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Ventilation (physiology)

2023-07-18T08:18:30Z

Christeen Henen:

{{SI}}
{{CMG}} Christine Henen, MD

One of the primary roles of the lungs is to facilitate gas exchange between the circulatory system and the external environment. The lungs are constitute of branching airways that terminate in respiratory bronchioles and alveoli, which participate in gas exchange. The conducting zone of the lung which delivers gas to sites of gas exchange in alveoli is Mostly bronchioles and large airways. Gas exchange happens in the lungs between alveolar air and the blood of the pulmonary capillaries. For sufficient gas exchange to occur, alveoli must be ventilated and perfused. Ventilation (V) refers to the flow of air in and out of the alveoli, compared to perfusion (Q), which refers to the flow of blood to alveolar capillaries. every Individual alveoli have variable degrees of ventilation and perfusion in different regions of the lungs. The ratio of ventilation to perfusion (V/Q) is the Collective changes in ventilation and perfusion in the lungs, for which are measured clinically as V/Q ratio . Changes in the V/Q ratio can affect gas exchange and can contribute to hypoxemia [1].

In [[respiratory physiology]], '''ventilation''' (or '''ventilation rate''') is the rate at which gas enters or leaves the [[lung]]. It is categorised under the following definitions:

{| class="wikitable"
| '''Measurement''' || '''Equation''' || '''Description'''
|-
| ''[[Minute ventilation]]'' || = [[tidal volume]] * [[respiratory rate]]<ref name="virginia"> http://www.healthsystem.virginia.edu/Internet/Anesthesiology-Elective/airway/ventilation.cfm</ref><ref>http://www.nda.ox.ac.uk/wfsa/html/u12/u1211_02.htm</ref> || the total volume of gas entering the lungs per minute.
|-
| ''Alveolar ventilation'' || = ([[tidal volume]] - [[dead space]]) * [[respiratory rate]] <ref name="virginia"> </ref> || the volume of gas per unit time that reaches the [[alveolus|alveoli]], the respiratory portions of the lungs where gas exchange occurs.
|-
| ''Dead space ventilation'' || = [[dead space]] * [[respiratory rate]]<ref>{{GeorgiaPhysiology|4/4ch3/s4ch3_16}}</ref>
|| is the volume of gas per unit time that does not reach these respiratory portions, but instead remains in the airways ([[Vertebrate trachea|trachea]], [[bronchi]], etc.).
|}
'''Lung volumes''' and '''lung capacities''' refer to the volume of air in the lungs at different phases of the respiratory cycle. The average total lung capacity of an adult human male is about 6 litres of air <ref>{{Cite web}}</ref>

== See also ==
*[[Gas exchange]]

==References==
1- Wagner PD, Laravuso RB, Uhl RR, West JB. Continuous distributions of ventilation-perfusion ratios in normal subjects breathing air and 100 per cent O2. J Clin Invest. 1974 Jul;54(1):54-68. [PMC free article] [PubMed]<references/>

==External links==
* {{MeshName|Pulmonary+ventilation}}

{{Respiratory physiology}}

[[Category:Pulmonology]]

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Ventilation (physiology)

2023-07-18T08:00:06Z

Christeen Henen:

{{SI}}
{{CMG}} Christine Henen, MD

One of the primary roles of the lungs is to facilitate gas exchange between the circulatory system and the external environment. The lungs are constitute of branching airways that terminate in respiratory bronchioles and alveoli, which participate in gas exchange. Most bronchioles and large airways are part of the conducting zone of the lung, which delivers gas to sites of gas exchange in alveoli. Gas exchange occurs in the lungs between alveolar air and the blood of the pulmonary capillaries. For effective gas exchange to occur, alveoli must be ventilated and perfused. Ventilation (V) refers to the flow of air into and out of the alveoli, while perfusion (Q) refers to the flow of blood to alveolar capillaries. Individual alveoli have variable degrees of ventilation and perfusion in different regions of the lungs. Collective changes in ventilation and perfusion in the lungs are measured clinically using the ratio of ventilation to perfusion (V/Q). Changes in the V/Q ratio can affect gas exchange and can contribute to hypoxemia [1].

In [[respiratory physiology]], '''ventilation''' (or '''ventilation rate''') is the rate at which gas enters or leaves the [[lung]]. It is categorised under the following definitions:

{| class="wikitable"
| '''Measurement''' || '''Equation''' || '''Description'''
|-
| ''[[Minute ventilation]]'' || = [[tidal volume]] * [[respiratory rate]]<ref name="virginia"> http://www.healthsystem.virginia.edu/Internet/Anesthesiology-Elective/airway/ventilation.cfm</ref><ref>http://www.nda.ox.ac.uk/wfsa/html/u12/u1211_02.htm</ref> || the total volume of gas entering the lungs per minute.
|-
| ''Alveolar ventilation'' || = ([[tidal volume]] - [[dead space]]) * [[respiratory rate]] <ref name="virginia"> </ref> || the volume of gas per unit time that reaches the [[alveolus|alveoli]], the respiratory portions of the lungs where gas exchange occurs.
|-
| ''Dead space ventilation'' || = [[dead space]] * [[respiratory rate]]<ref>{{GeorgiaPhysiology|4/4ch3/s4ch3_16}}</ref>
|| is the volume of gas per unit time that does not reach these respiratory portions, but instead remains in the airways ([[Vertebrate trachea|trachea]], [[bronchi]], etc.).
|}

== See also ==
*[[Gas exchange]]

==References==
1- Wagner PD, Laravuso RB, Uhl RR, West JB. Continuous distributions of ventilation-perfusion ratios in normal subjects breathing air and 100 per cent O2. J Clin Invest. 1974 Jul;54(1):54-68. [PMC free article] [PubMed]<references/>

==External links==
* {{MeshName|Pulmonary+ventilation}}

{{Respiratory physiology}}

[[Category:Pulmonology]]

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{{WikiDoc Sources}}

Asperger syndrome

2017-09-15T06:10:54Z

Christeen Henen: overview

__NOTOC__
{{Infobox_Disease |
Name = Asperger syndrome |
Image = Asperger kl2.jpg|
Caption = [[Hans Asperger]] described his young patients as "little professors"|
DiseasesDB = 31268 |
ICD10 = {{ICD10|F|84|5|f|80}} |
ICD9 = 299.8 |
ICDO = |
OMIM = 608638 |
MedlinePlus = 001549 |
}}
{{Asperger syndrome}}

'''For patient information click [[Asperger syndrome (patient information)|here]]'''

{{CMG}} '''Associate-Editor-In-Chief:''' Christeen Henen, M.D.

{{SK}} Asperger's syndrome; Asperger's disorder; Asperger's; AS

==[[Asperger syndrome overview|Overview]]==
is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests. As a milder autism spectrum disorder (ASD), it differs from other ASDs by relatively normal language and intelligence. Although not required for diagnosis, physical clumsiness and unusual use of language are common. Signs usually begin before two years old and typically last for a person's entire life.

==[[Asperger syndrome historical perspective|Historical Perspective]]==

==[[Asperger syndrome classification|Classification]]==

==[[Asperger syndrome pathophysiology|Pathophysiology]]==

==[[Asperger syndrome causes|Causes]]==

==[[Asperger syndrome differential diagnosis|Differentiating Asperger Syndrome from other Disorders]]==

==[[Asperger syndrome epidemiology and demographics|Epidemiology and Demographics]]==

==[[Asperger syndrome risk factors|Risk Factors]]==

==[[Asperger syndrome screening|Screening]]==

==[[Asperger syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==

==Diagnosis==
[[Asperger syndrome history and symptoms|History and Symptoms]] | [[Asperger syndrome physical examination|Physical Examination]] | [[Asperger syndrome laboratory findings|Laboratory Findings]] | [[Asperger syndrome other diagnostic studies|Other Diagnostic Studies]]

==Treatment==

[[Asperger syndrome medical therapy|Medical Therapy]] | [[Asperger syndrome behavioral therapy|Behavioral Therapy]] | [[Asperger syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Asperger syndrome future or investigational therapies|Future or Investigational Therapies]]

{{Pervasive developmental disorders}}
{{Mental and behavioural disorders}}

{{DEFAULTSORT:Asperger syndrome}}

[[Category:Overview complete]]
[[Category:Genetic disorders]]
[[Category:Psychiatry]]
[[Category:Pediatrics]]
[[Category:Neurology]]
[[Category:Syndromes]]
[[Category:Disease]]

{{Link FA|he}}
[[af:Aspergersindroom]]
[[ar:متلازمة آسبرجر]]
[[ca:Síndrome d'Asperger]]
[[cy:Syndrom Asperger]]
[[da:Aspergers syndrom]]
[[de:Asperger syndromeus#Asperger-Syndrom]]
[[et:Aspergeri sündroom]]
[[es:Síndrome de Asperger]]
[[eo:Sindromo de Asperger]]
[[fr:Syndrome d'Asperger]]
[[ko:아스퍼거 증후군]]
[[hr:Aspergerov sindrom]]
[[id:Sindrom Asperger]]
[[is:Asperger heilkenni]]
[[it:Sindrome di Asperger]]
[[he:תסמונת אספרגר]]
[[lv:Aspergera sindroms]]
[[hu:Asperger-szindróma]]
[[nl:Syndroom van Asperger]]
[[ja:アスペルガー症候群]]
[[no:Aspergers syndrom]]
[[pms:Sìndrom d'Asperger]]
[[pl:Zespół Aspergera]]
[[pt:Síndrome de Asperger]]
[[ru:Синдром Аспергера]]
[[simple:Asperger syndrome]]
[[sk:Aspergerov syndróm]]
[[fi:Aspergerin oireyhtymä]]
[[sv:Aspergers syndrom]]
[[tr:Asperger sendromu]]
[[zh:亞斯伯格症候群]]

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Postnatal depression

2017-09-15T06:02:17Z

Christeen Henen: treatment

'''For patient information click [[Postpartum depression (patient information)|here]]'''

{{DiseaseDisorder infobox |
Name = Postnatal depression |
ICD10 = {{ICD10|F|53|0|f|50}} |
ICD9 = {{ICD9|648.4}} |
ICDO = |
Image = |
Caption = |
OMIM = |
MedlinePlus = 007215 |
DiseasesDB = 10921 |
}}
{{SI}}
{{CMG}}'''Associate editor-in-Chief''': Christeen Henen

==Overview==
'''Postnatal depression''' is a form of [[clinical depression]] which can affect women, and less frequently men, after [[childbirth]]. It is widely considered to be treatable. Studies report prevalence rates from 5% to 25%, but methodological differences among the studies make the actual prevalence rate unclear.

==Baby blues==
'Baby' or [[maternity blues]] are a mild and transitory form of 'moodiness' suffered by up to 80% of postnatal women. Fathers also suffer from postnatal depression. Symptoms typically last from a few hours to several days, and include tearfulness, irritability, [[hypochondriasis]], sleeplessness, impairment of concentration, isolation and headache. The maternity blues are not considered a postpartum depressive disorder.

== Risk Factors ==
While not all causes of PND are known, several factors have been identified. Beck (2001) has conducted a [[meta-analysis]] of predictors of PPD. She found that the following 13 factors were significant predictors of PPD ([[effect size]] in parentheses -- larger values indicate larger effects):

*Prenatal depression, i.e., during pregnancy (.44 to .46)
*Low self esteem (.45 to.47)
*Childcare stress (.45 to .46)
*Prenatal anxiety (.41 to .45)
*Life stress (.38 to .40)
*Low social support (.36 to .41)
*Poor marital relationship (.38 to .39)
*History of previous depression (.38 to.39)
*Infant temperament problems/colic (.33 to .34)
*Maternity blues (.25 to .31)
*Single parent (.21 to .35)
*Low socioeconomic status (.19 to .22)
*Unplanned/unwanted pregnancy (.14 to .17)

'''''Other factors identified in people suffering from postnatal depression are:'''''
*history of genetic mental illnesses
*substance abuse
*former childbirth issues

These factors are known to [[correlation|correlate]] with PPD. That means that, for example, high levels of prenatal depression are associated with high levels of postnatal depression, and low levels of prenatal depression are associated with low levels of postnatal depression. But this does not mean the prenatal depression causes postnatal depression -- they might both be caused by some third factor. In contrast, some factors, such as lack of social support, almost certainly ''cause'' postnatal depression. (The ''causal'' role of lack of social support in PPD is strongly suggested by several studies, including O'Hara 1985, Field et al. 1985; and Gotlib et al. 1991.)

Although profound [[hormonal]] changes after childbirth are often claimed to cause PND, there is little evidence that variation in pregnancy hormone levels is correlated with variation in PPD levels: Studies that have examined pregnancy hormone levels and PND have usually failed to find a relationship (see Harris 1994; O'Hara 1995). Further, fathers, who are not undergoing profound hormonal changes, suffer PND at relatively high rates (e.g., Goodman 2004). Finally, all mothers experience these hormonal changes, yet only about 10-15% suffer PPD. This does ''not'' mean, however, that hormones do not play a role in PPD. For example, found that, ''in women with a history of PPD '', a hormone treatment simulating pregnancy and parturition caused these women to suffer mood symptoms. The same treatment, however, did not cause mood symptoms in women with no history of PPD. One interpretation of these results is that there is a subgroup of women who are vulnerable to hormone changes during pregnancy. Another interpretation is that simulating a pregnancy will trigger PND in women who are vulnerable to PPD for any of the reasons indicated by Beck's meta-analysis (summarized above).

Women most commonly experience depression during their primary reproductive years (25 to 45), so they are especially vulnerable to developing depression during pregnancy and after childbirth.

Profound [[lifestyle]] changes brought about by caring for the [[infant]] are also frequently claimed to cause PPD, but, again, there is little evidence for this hypothesis. Mothers who have had several previous children without suffering PPD can nonetheless suffer it with their latest child (Nielsen Forman et al. 2000). Plus, most women experience profound lifestyle changes with their first pregnancy, yet most do not suffer PPD.

In severe cases, '''postnatal psychosis''' (also known as '''puerperal psychosis''') can develop, characterized by [[hallucination]]s and [[delusion]]s. This happens in about 0.1 - 0.2% of all women after having given birth. In some cases, postpartum psychosis can develop independent of postpartum depression.

Sometimes a pre-existing [[mental illness]] can be brought to the forefront through a postnatal depression. Postpartum depression can be hereditary. Women with severe [[premenstrual syndrome]] most commonly suffer from postpartum depression.

===Evolutionary psychological hypothesis===

Evolutionary approaches to parental care (e.g., [[Robert Trivers|Trivers]] 1972) suggest that parents (human and non-human) will not automatically invest in all offspring, and will reduce or eliminate investment in an offspring when the costs outweigh the benefits, that is, when the offspring is "unaffordable." Reduced care, abandonment, and killing of offspring have been documented in a wide range of species. In many bird species, for example, both pre- and post-hatching abandonment of broods is common (Ackerman et al. 2003; Cezilly 1993; Gendron and Clark 2000).

Human infants require an extraordinary degree of parental care. Lack of support from fathers and/or other family member will increase the costs borne by mothers, whereas infant health problems will reduce the evolutionary benefits to be gained (Hagen 1999). If ancestral mothers did not receive enough support from fathers or other family members, they may not have been able to afford raising the new infant without harming any existing children, or damaging their own health (nursing depletes mothers' nutritional stores, placing the health of poorly nourished women in jeopardy).

For mothers suffering inadequate social support or other costly and stressful circumstances, negative emotions directed towards a new infant could serve an important evolved function by causing the mother to reduce her investment in an unaffordable infant, thereby reducing her costs. Numerous studies support the correlation between postpartum depression and lack of social support or other childcare stressors (Beck 2001; Hagen 1999).

Mothers with postnatal depression can unconsciously exhibit fewer positive emotions and more negative emotions toward their children, are less responsive and less sensitive to infant cues, less emotionally available, have a less successful maternal role attainment, and have infants that are less securely attached; and in more extreme cases, some women may have thoughts of harming their children (Beck 1995, 1996b; Cohn et al. 1990, 1991; Field et al. 1985; Fowles 1996; Hoffman and Drotar 1991; Jennings et al. 1999; Murray 1991; Murray and Cooper 1996). In other words, most mothers with PPD are suffering some kind of cost, like inadequate social support, and consequently are mothering less.

On this view, mothers with PND do not have a ''mental illness'', but instead cannot afford to take care of the new infant without more social support, more resources, etc. Treatment should therefore focus on helping mothers get what they need. (See [http://www.anth.ucsb.edu/projects/human/ppd.pdf Hagen 1999] and [http://itb.biologie.hu-berlin.de/~hagen/papers/perinatal.pdf Hagen and Barrett, n.d.])

==Effects on the parent-infant relationship==
Postnatal depression may lead mothers to be inconsistent with [[childcare]]. Women diagnosed with post- partum depression often focus more on the negative events of childcare, tending to make themselves have poor coping strategies (Murray).

There are four groups of coping methods, each divided into a different style of coping subgroups. Avoidance coping is one of the most common strategies used (Murray). It consists of denial and behavioral disengagement subgroups (for example, an avoidant mother might not respond to her baby crying). This strategy however, does not resolve any problems and ends up negatively impacting the mother’s mood, similarly of the other coping strategies used (Honey).

<blockquote>'''Four Coping Strategies:'''

* '''''Avoidance Coping:''''' denial, behavioral disengagement
* '''''Problem-Focused Coping:''''' active coping, planning, positive reframing
* '''''Support Seeking Coping:''''' emotional support, instrumental support
* '''''Venting Coping:''''' venting, self-blame </blockquote>

===Security===

Mothers who may be using avoidance coping and don’t respond to their infants needs may make the infant feel insecure. According to Edhborg’s article on long-term impacts, insecurity can lead to infant stress and infant avoidance, where the infant may become so subdued that it will not interact with the mother or any other adult. This is a concern because months two through six in an infant’s life are very important; it is in these months that the infant develops some interaction and cognitive skills. Parent-infant interaction is most essential during this time because it builds the connection not only with the mother, but others as well (Long-term). It is also the time of most risk for the child because of a possible increased onset of depression in the mother (Long-term). The lack of interaction can lead to difficulties in parent-infant communication and result in poorer infant performance (Murray).

===Attachment Study===

Edhborg and some colleagues did a study on mother-child attachment by using forty-five randomly selected mother-child pairs. These pairs were chosen using an Edinburgh Postnatal Depression Scale (EDPS) form, measuring postpartum depression in the community. 326 women returned the form and of the 326, twenty-four scoring above twelve were recruited and twenty-one women scoring less than nine were recruited. Scoring above twelve is considered potentially depressed while those scoring less than nine are considered to have no form of depression. The forty-five mother-child pairs were then taken and videotaped, in their homes, for five minutes in three different situations. Mother and child were first put in a room with a standard set of toys, to represent a control play. In the second situation, the mother and child were allowed to play freely in an average toy room. In the third situation, the mother was asked to leave the room as if she had to check on something, like she would regularly do in their home environment, and then return.

Senior Psychologists then scored the interaction between mother and child. The first two taped situations were scored on a five point scale; 1 (being the area of most concern) to 5 (being an area of strength). In the third situation, the attachment behavior was put into three groups based on how the child reacted to the mothers return.

<blockquote>'''Three classified groups:'''

* '''''Secure and Joyful Attachment''''': consists of child greeting mother with joy and being comforted by her presence.
* '''''Secure Attachment but Restricted in Expressed Enjoyment and Pleasure''''': consists of the child acknowledging the mother, but showing little joy than would normally be expected.
*'''''Insecure Attachment''''': consists of child showing signs of avoidance and resistance. In the form of resistance the child would go to the mother, but then pull away and often repeat this action.</blockquote>

Analysis showed only one difference between the groups. In the free play situation, children with high EPDS scores showed less interest in playing with their mothers and exploring on their own than the children with low EPDS scores. The mothers too only showed one difference. Those with a high EDPS score showed little maternal emotional availability to the child.

Following the results, Edhborg performed a cluster analysis, keeping interest on the different interaction styles. Some children did show signs of depression, but when comparing the children it was found that there is no significance with the EPDS scores and the interaction styles. The study did find, however, that children of high EPDS scorers were less involved in the free play situation than the children of low EPDS scorers, showing that children of high EPDS are more likely to be insecure.

When performing the structured task from the first situation it showed that the mothers with high EPDS were “aware of their unavailability for the child in the early postpartum period and thus tried harder… to help their children succeed in the task” (Edhborg). This overreaction proves that too much interaction can cause a negative mood in the child and a continuing difficulty in mother-child communication.

Attachment issues have been shown to be a problem in older children, also. As a result of being exposed to the depression symptoms, as an infant, older children may have impaired cognitive and socio-emotional developments. The lack of attachment can also cause troubles in the interaction with others and personal independence (Long-term). Children with these issues have a higher risk of being diagnosed with depression later in life as well (Honey).

==Prevention and screening==
Early identification and intervention improves long term prognoses for most women. Some success with preemptive treatment has been found as well. A major part of prevention is being informed about the risk factors, and the medical community can play a key role in identifying and treating postpartum depression. Women should be screened by their physician to determine their risk for acquiring postpartum depression.

The [[United States Preventive Services Task Force]] (USPSTF) recommends screening for depression. A systematic review conducted by the USPSTF has found adequate evidence that screening for depression, when combined with an effective support system for positive screens, improves clinical outcomes and is of moderate net benefit. Results from a systematic review of 6 trials, screening pregnant and postpartum women 18 years of age or older, showed a 18%-59% relative reduction and a 2.1%-9.1% absolute reduction in the risk of depression at follow-up (3-5 months) compared with usual care.

The American Academy of Pediatricians (AAP) recommends screening at well-child visits at 1, 2, 4 and 6 months.

Although there is no clear consensus as to which scale is recommended for screening postpartum depression, the two most widely utilized screening scales are the Patient Health Questionnaire (PHQ-9) and the Edinburgh Postnatal Depression Scale (EPDS). Although PHQ-9 and EPDS measure depression, they capture two distinct aspects of postnatal depression. The PHQ-9 assesses common somatic symptoms during pregnancy and in the immediate postnatal period, while the EPDS detects depressive symptoms comorbid with anxiety. Multiple studies have concluded that PHQ-9 and EPDS may be applied with equal confidence in screening for major depressive episodes in postpartum women.

Currently, Alberta is the only province in Canada with universal PND screening which has been in place since 2003. The PPD screening is carried out by Public Health nurses in conjunction with the baby's immunization schedule. Also, proper exercise and nutrition appears to play a role in preventing postpartum, and general, depression.

==Nutrition / Prevention==
'''Nutrition:''' [[Nutrition]] has shown itself to be a factor in the condition known as postpartum [[Clinical depression|depression]]. Many scientists in the medical community have begun to publish their findings in the area. Some aspects of what role nutrition plays in a woman’s chance of suffering from this condition have become quite controversial while others have been embraced as useful aids to help combat suffering from postpartum depression. One area of the nutrition factor that is shrouded in a great deal of controversy and is fiercely debated by both sides of the issue is the use of [[aspartame]] and other sugar supplements during the course of a [[pregnancy]]. Many independent studies claim that aspartame is a carcinogen and that when ingested produces large amounts of [[phenylalanine]] in the body which can lead to birth defects such as mental retardation. This is due to the fact that the phenylalanine can disrupt the connections being made in the fetuses developing brain. Aspartame has also been linked to causing abnormal [[serotonin]] production in the brain. Due to these findings some doctors caution pregnant woman not to use aspartame, based on the concern that low serotonin levels in the brain could greatly increase the risk of suffering from the effects of postpartum depression. Despite the findings of these independent studies done on aspartame the [[FDA]], [[Searle]] / [[Monsanto]] (the company that birthed the chemical), and the Food and Beverage Association of America vigorously defend the safety of their product and claim that the findings against aspartame should be viewed as “urban myths.” One factor in regards to the diet of pregnant women that most doctors agree upon is the increased need for [[omega-3 fatty acids]]. It is recommended that pregnant women ingest at least 1,000 mg (1 gram) of omega-3 oils every day. This amount of oil can be obtained through any of these examples: 2 teaspoons of walnut oil, 2 to 3 oz. of cooked salmon, or 1/3 teaspoons of flaxseed oil. Pregnant woman choosing to eat fish as a way obtain their necessary amount of omega-3’s should limit their intake to 12 oz a week. This is due to the [[mercury (element)|mercury]] levels found in fish that could be potentially harmful to a mother’s unborn child or to infants being reared on breast milk containing high amounts of the toxic element. Along with omega-3’s, protein also plays an important role in the diet of a pregnant woman. When the body breaks down protein it allows the brain to produce the neurotransmitter serotonin, which helps to relive [[anxiety]]. It is recommend that [[nursing]] mothers ingest 71 grams of protein per day while non-nursing mothers only need 46. Protein can be found in a wide variety of foods. Some examples along with their protein content are as follows: 3 oz of most meat products contain about 25 gm, 3 large eggs will hold 19 gm, and 3 oz of Swiss cheese will have about 15 gm.

'''Hydration:''' One of the most important roles in any diet (especially for pregnant and nursing mothers) is that of [[hydration]]. Drinking enough liquid is a key part in combating postpartum depression. Studies have shown that dehydration can cause feelings of [[fatigue (medical)|fatigue]] and anxiety. If a woman already suffering from postpartum depression failed to keep herself properly hydrated, the chances of her condition worsening would be almost certain. It is recommend that pregnant women make sure to consume ten 8oz glasses of water every day. Mothers who are nursing are strongly urged to drink a tall glass of water, milk, or juice before sitting down to breast-feed their child. Another aspect of liquid diet concerning postpartum women is the consumption of [[alcohol]] and [[caffeine]]. Despite the feelings of light euphoria alcohol may seem to induce it is a depressant. It is recommend that postpartum women greatly limit their alcohol intake until they feel emotionally stable and physically recovered from the strains of giving birth. Caffeine consumption is also a concern in the diets of pregnant and postpartum women. While it is common practice for someone to use caffeine as a way to raise ones alertness, when consumed in large amounts it has been shown to cause a variety of side effects such as: restlessness, anxiety, and [[headaches]]. All these conditions can be very detrimental to pregnant and postpartum women. It is recommended that pregnant and nursing mothers consume no more than 300 mg of caffeine a day. It is also recommended that if one decides to stop using caffeine they should wean them selves off the drug slowly. This is due to the concern that by eliminating caffeine abruptly (rather than in small steps) it may induce intense headaches, feelings of irritation, and lethargy.

'''Vitamins:''' While [[vitamins]] cannot be relied upon to solely provide an individual with all the nutrition they need, vitamins can do a great deal to help combat postpartum depression. It is highly recommend that postpartum women take a daily [[prenatal]] supplement to aid them in meeting all their nutritional needs. When choosing a prenatal vitamin one should look for a supplement containing high amounts of [[iron]] and vitamins A, C, and E. '''Warning:''' While vitamin A is [[Retinol#Role in embryology|essential to normal fetal development]], high amounts are [[teratogenesis|teratogenic]], ie. cause [[Congenital disorder|birth defects]]. Even twice the daily recommended amount can cause [[Retinol#Vitamin A overdose .28Toxicity.29|severe birth defects]], while certain [[Isotretinoin#Teratogenicity|acne medicines]] contain enough amounts to be teratogenic after a single use. [http://www.medsafe.govt.nz/Profs/PUarticles/teratogen.htm]
[http://www.fda.gov/bbs/topics/ANSWERS/ANS00689.html]
[http://www.thenutritionreporter.com/A-vitamins.html]

'''Appetite:''' It is extremely important for pregnant and postpartum women to maintain a healthy [[appetite]]. A proper calorie intake is a key part in keeping one feeling healthy and positive both during the pregnancy and in the first few months after the birth. If a woman finds herself with a strong lack of appetite she should consult her physician. This may be a sign of postpartum depression and therefore should be brought to the attention of ones doctor. Cortisol is produced as a response to stress and cannot be converted into serotonin. the intake of any substance, including caffeine may produce an overload of cortisol, which in turn limits the production of serotonin, causing a higher risk of postpartum depression. amino acid tryptophan and vitamin B6 is essential in the process of building serotonin.

==Treatment==
Treatments for PPD are largely the same as for [[clinical depression]] in general. If the cause of PPD can be identified, treatment should be aimed at the root cause of the problem.

Women need to be taken seriously when symptoms occur. [That is, she must take her symptoms seriously enough to tell her significant other, or a close friend, or her medical practitioner. Also, THEY must take her symptoms seriously as well.] Generally a combination of psychotherapy and medication can reduce symptoms. The ideal treatment plan includes:
* Medical evaluation to rule out physiological problems
* Psychiatric evaluation
* Psychotherapy
* Possible medication
* Support group
* Home visit
* Healthy diet
* Consistent/ healthy sleep patterns

It is critical that women being treated for postpartum depression prolong the treatment even after symptoms subside, because if treatment is ceased prematurely, symptoms can reoccur.

==Postnatal psychosis==

'''Postnatal psychosis''' or PNP, is a mental illness, which involves a complete break with reality. Although correctly termed as a ''postnatal stress disorder'' or ''postpartum depressive reaction'', Postnatal [[psychosis]] is different from post-partum depression.
The majority of PNP occurs within the first two weeks after childbirth with a classic 10-14 day ''meltdown'', likely caused by the radical hormonal changes combined with neurotransmitter overactivity. When correctly diagnosed at the earliest signs and immediately treated with [[anti-psychotic medication]], the illness is recoverable within a few weeks. If undiagnosed, even for just a few days, it can take the woman months to recover. In cases of PNP, the sufferer is often unaware that she is unwell.

Psychosis can also take place in combination with an underlying psychiatric disorder, such as [[bipolar affective disorder]], [[schizophrenia]], or undiagnosed depression. In some women, a part-partum psychosis is the only psychotic episode they will ever experience, but, for others, it is just the first indication of a psychiatric disorder. Only 1 to 2 women per 1,000 births develop post-partum psychosis. It is a rare condition, and often treatable. However, much media coverage of post-partum depression has focused on psychosis, especially following the [[Andrea Yates]] case. Whilst postpartum/puerperal psychosis is a serious psychiatric illness, the risks of a mother suffering this illness harming her baby are low: infanticide rates are estimated at 4%, and suicide rates in postpartum/puerperal psychosis are estimated at 5%.

PNP is also known as "postnatal stress disorder", because the patients are notably under emotional [[Stress (medicine)|stress]] and exhibits unusual behavioral patterns not seen before their pregnancy or post-partum event. Symptoms associated with PP are memory lapses (periods of confusion or similar to [[amnesia]]), random or uncontrollable "anxiety" attacks and unintelligible speech or communication.

===Andrea Yates case===
After the [[National Organization for Women]] (NOW) insisted that [[Andrea Yates]] had postnatal depression, the [[Individualist feminism|Individualist Feminists]] of Ifeminist.com pointed out that postnatal depression is quite common and that most sufferers do not murder their children. In fact, Yates suffered from postnatal psychosis. After Ifeminist.com pointed out that this [[social stigma|stigmatize]]d a large number of mothers and made them less likely to seek professional help, NOW removed their claims from their official website. Some believe that Yates' [[Michael Peter Woroniecki|fundamentalist church]] bears some responsibility for the murder, as the church allegedly urged her to ignore her [[psychiatrist]]'s orders. Yates methodically [[drown]]ed her children in a [[bathtub]] in her [[Clear Lake City, Texas|Clear Lake City]], [[Houston, Texas]] house on [[June 20]], [[2001]].

===Melanie Stokes===
Melanie Stokes died of Postnatal Psychosis several months after her daughter's birth in February 2001. Ms. Stokes had a textbook perfect pregnancy; her husband was a physician; she was a successful business woman.

Melanie's mother started a website to raise awareness about Postpartum Psychosis: http://www.melaniesbattle.org/index.html Her work also led to the introduction of the Melanie Stokes Postpartum Depression and Research and Care Act (HR 20) in 2001: http://www.melaniesbattle.org/legislation.html The Act was reintroduced to Congress in 2007 as HR 846: http://www.ppdil.org/billalert.htm

==References==
Ackerman, J. T., Eadie, J. M., Yarris, G. S., Loughman, D. L., & Mclandress R. M. (2003) Cues for investment: nest desertion in response to partial clutch depredation in dabbling ducks. Animal Behaviour, 66, 871–883.

Beck, C.T. The effects of postnatal depression on maternal-infant interaction: a meta-analysis. Nursing
Research 44:298–304, 1995.

Beck, C.T. A meta-analysis of predictions of postpartam depression. Nursing Research 45:297–303,
1996a.

Beck, C.T. A meta-analysis of the relationship between postpartum depression and infant temperament.
Nursing Research 45:225–230, 1996b.

Beck, C.T. (2001) Predictors of Postnatal Depression: An Update. Nursing Research, 50, 275-285.

Canadian Pediatric Society. [http://www.caringforkids.cps.ca/babies/Depression.htm. "Depression in Pregnant Women and Mothers: How Children are Affected."] October 2004. Accessed 22 November 2005 at

Cezilly, F. (1993) Nest desertion in the greater flamingo, Phoenicopterus ruber roseus. Animal Behaviour, 45, 1038-1040.

Cohn, J.F., Campbell, S.B., Matias, R., and Hopkins, J. Face-to-face interactions of postpartum depressed
and nondepressed mother-infant pairs at 2 months. Developmental Psychology 26:15–23, 1990.

Cohn, J.F., Campbell, S.B., and Ross, S. Infant response in the still-face paradigm at 6 months predicts
avoidant and secure attachment at 12 months. Special Issue: Attachment and developmental
psychopathology. Development and Psychopathology 3:367–376, 1991.

Edhborg, Maigun. “The long-term impact of postnatal depressed mood on mothers +
child interaction: a preliminary study.” Journal of Reproductive and Infant Psychology 19 (2001):61-71.

Edhborg, Maigun. “‘Struggling with Life’: Narratives from women with signs of
postpartum depression.” Scandinavian Journal of Public Health 33 (2005):
261-267.

Field, T., Sandburg, S., Garcia, R., Vega-Lahr, N., Goldstein, S., and Guy, L. Pregnancy problems, postpartum
depression, and early mother-infant interactions. Developmental Psychology 21:1152–
1156, 1985.

Fowles, E.R. Relationships among prenatal maternal attachment, presence of postnatal depressive symptoms,
and maternal role attainment. Journal of the Society of Pediatric Nurses 1:75–82, 1996.

Gendron, M. & Clark, R. G. (2000) Factors affecting brood abandonment in gadwalls (Anas strepera). Canadian Journal of Zoology, 78, 327–331.

Gotlib, I.H., Whiffen, V.E., Wallace, P.M., and Mount, J.H. Prospective investigation of postpartum depression: factors involved in onset and recovery. Journal of Abnormal Psychology 100:122–
132, 1991.

Goodman J.H. (2004) Paternal postpartum depression, its relationship to maternal postpartum depression, and implications for family health. Journal of Advanced Nursing, 45, 26-35.

Harris, B. Biological and hormonal aspects of postpartum depressed mood: working towards strategies
for prophylaxis and treatment. Special Issue: Depression. British Journal of Psychiatry
164:288–292, 1994.

Hoffman, Y., and Drotar, D. The impact of postpartum depressed mood on mother-infant interaction: like
mother like baby? Infant Mental Health Journal 12:65–80, 1991.

Honey, Kyla. “A Stress-Coping Transactional Model of low mood following
Childbirth.” Journal of Reproductive and Infant Psychology 21 (2003): 129-143.

Jennings, K.D., Ross, S., Popper, S., and Elmore, M. Thoughts of harming infants in depressed and nondepressed mothers. Journal of Affective Disorders, 1999.

Murray. “The Impact of Postnatal Depression on Infant Development.” Journal of Child
Psychology and Psychiatry and Allied Disciplines 33 (1992): 543-561.

Murray, L. Intersubjectivity, object relations theory, and empirical evidence from mother-infant interactions. Special Issue: The effects of relationships on relationships. Infant Mental Health Journal
12:219–232, 1991.

Murray, L., and Cooper, P.J. The impact of postnatal depression on child development. International
Review of Psychiatry 8:55–63, 1996.

Nielsen Forman D, Videbech P, Hedegaard M, Dalby Salvig J, Secher NJ (2000) Postnatal depression: identification of women at risk. British Journal of Obstetrics and Gynaecology, 107, 1210-7.

O’Hara, M.W. Depression and marital adjustment during pregnancy and after delivery. American Journal
of Family Therapy 13:49–55, 1985.

O’Hara, M.W. Postpartum Depression: Causes and Consequences. New York: Springer-Verlag, 1995.

O’Hara, M.W., and Swain A.M. Rates and risk of postpartum depression – A meta-analysis. International
Review of Psychiatry 8:37–54, 1996.

[[Robert Trivers|Trivers, R. L.]] (1972) Parental investment and sexual selection. In B. Campbell (Ed.), Sexual Selection and the Descent of Man (pp. 136-179). London: Heinemann.

<references />

==Further reading==

* Hagen, E., and Barrett, H. C. (2007). Perinatal sadness among Shuar women: Support for an evolutionary theory of psychic pain. ''Medical Anthropology Quarterly, 21,'' 22-40. [http://www.sscnet.ucla.edu/anthro/faculty/barrett/Hagen-Barrett-2007.pdf Full text]

{{Mental and behavioural disorders}}

[[Category:Overview complete]]
[[Category:Psychiatry]]
[[Category:Obstetrics]]

[[de:Postpartale Stimmungskrisen]]
[[es:depresión postparto]]
[[fr:Dépression post-natale]]
[[it:Depressione post-partum]]
[[he:דיכאון לאחר לידה]]
[[nl:Postpartumdepressie]]
[[pl:Depresja poporodowa]]
[[pt:Depressão pós-parto]]
[[fi:Synnytysmasennus]]
[[zh:产后抑郁症]]

{{WH}}
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Mood disorder

2017-09-15T05:51:04Z

Christeen Henen: overview

__NOTOC__
{{SI}}
{{CMG}}'''Associate editor-in-Chief''': Christeen Henen

==Overview==
A '''mood disorder''' is a condition whereby the prevailing [[Mood (psychology) |emotional mood]] is distorted or inappropriate to the circumstances.

The two major types of mood disorders are [[Clinical depression|depression]] (or unipolar depression) and [[bipolar disorder]].

* [[Clinical depression|Depression]] (or unipolar depression), including subtypes:
** [[Clinical_depression#Major_clinical_depression|Major Depression]]
** Major Depression (Recurrent)
** Major Depression with [[psychosis|psychotic]] symptoms (psychotic depression)
** [[Dysthymia]] ( similar but milder form of MDD)
** [[Postpartum depression]]

* [[Bipolar disorder]], a mood disorder formerly known as "manic depression" and described by alternating periods of [[mania]] and [[Clinical depression|depression]] (and in some cases rapid cycling, mixed states, and [[psychosis|psychotic]] symptoms). Subtypes include:
** [[Bipolar I]]
** [[Bipolar II]]
** [[Cyclothymia]] ( similar but milder form of BD)

{{Mental and behavioural disorders}}

[[Category:Psychiatry]]

[[de:Affektive Störung]]
[[et:Meeleoluhäire]]
[[nl:Stemmingsstoornis]]
[[fi:Mielialahäiriö]]
[[pl:Choroby afektywne]]
{{WH}}
{{WikiDoc Sources}}

Depression

2017-09-15T05:35:59Z

Christeen Henen: overview

__NOTOC__
{{SI}}
{{CMG}}; '''Associate-Editor-In-Chief:''' Christeen Henen, M.D.

==Overview==

'''Depression''' generally signifies a lowering or reduction of some kind, for example in the context of [[mood]], economy, or functionality: is a mental disorder characterized by at least two weeks of low mood presenting in most situations.[1] It is often accompanied by low self-esteem, loss of interest, low energy, and pain without a clear cause.[1] People may also occasionally have false beliefs or see or hear things that others cannot.[1] Some people have periods of depression separated by years in which they are normal while others nearly always have symptoms present.[3] Major depressive disorder can negatively affect a person's personal, work, or school life, as well as sleeping, eating habits, and general health.[1][3] Between 2–7% of adults with major depression die by suicide,[2] and up to 60% of people who die by suicide had depression or another mood disorder.[6]
==Classification==
; [[Psychology]] and [[mood]]
:* [[Depression (mood)]], a common term for a sad or low [[mood]] or [[emotional state]], or the loss of pleasure.
:* [[Clinical depression]], or major depressive disorder, a clinical term for a state of intense sadness, [[melancholia]] or despair that has advanced to the point of being disruptive to an individual's social functioning and/or activities of daily living. Subtypes of clinical depression:
:::* [[Melancholic depression]], characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.
:::* [[Atypical depression]], a common long term cyclical form of depression in which the individual can feel enjoyment, eat, and sleep, but there is significant [[lethargy]], a 'leaden' feeling, and a strong response to rejection-related issues.
:::* [[Psychotic depression]], in which clinical depression co-exists with [[psychosis|psychotic]] or [[delusion]]al perceptions.
:* [[Postpartum depression]], depression following [[childbirth]], sometimes known as 'postpartum blues'.

;Other medical and biological uses
:* [[Depression (physiology)]], a lowering, in particular a reduction in a particular biological variable or the function of an organ, contrasted to ''elevation''
:* [[Depression (kinesiology)]], an anatomical term of motion

; Other uses
:* Depression (geology), a sunken geological formation
:* Depression (economics), a longer-lasting and more severe economic downturn than a recession
::* The Great Depression, a severe economic recession in the 1930s
:* Depression (meteorology), an area of low atmospheric pressure associated with cyclones and weather fronts

====Causes====
* Drug Side Effect- [[Acamprosate calcium]], [[Apremilast]], [[Asenapine maleate]], [[Belimumab]], [[Benzphetamine]], [[Betamethasone valerate]], [[Betamethasone dipropionate]],[[Cimetidine]], [[Clobazam]], [[Conjugated estrogens]], [[caspofungin acetate]], [[Ciprofloxacin]], [[crofelemer]], [[Desogestrel and Ethinyl Estradiol]], [[Dexamethasone]], [[Diethylpropion]], [[Drospirenone and Ethinyl estradiol]], [[Elvitegravir]], [[Eribulin]], [[Estropipate]], [[Fluoxymesterone]], [[Goserelin]], [[Hydrocortisone]], [[Hydroxyprogesterone caproate]], [[Indinavir]], [[Interferon alfa-2b]], [[Isotretinoin]], [[meclofenamate]],[[Megestrol]], [[Meropenem]], [[Metipranolol]], [[Mitotane]], [[Nandrolone]], [[Natalizumab]], [[Norethindrone acetate and Ethinyl estradiol]], [[Norgestimate and Ethinyl estradiol]], [[Norgestrel and Ethinyl estradiol]], [[Oxaprozin]], *[[Peginterferon Beta-1a]],[[Pergolide]], [[Progesterone]], [[Sorafenib]], [[Sulfasalazine]], [[Sodium phenylbutyrate]], [[Tolmetin]], [[Toremifene]], [[Triamcinolone]], [[Varenicline]], [[Vinblastine]]
* Endocrine
:* [[Multiple endocrine neoplasia type 1]], [[Hyperparathyroidism]]

==References==
{{reflist|2}}

{{Geriatrics}}

[[Category:Primary care]]
[[Category:Geriatrics]]
[[Category:Psychiatry]]

[[bs:Depresija (čvor)]]
[[cs:Deprese]]
[[de:Depression (Begriffsklärung)]]
[[es:Depresión (desambiguación)]]
[[eo:Depresio]]
[[fr:Dépression]]
[[hr:Depresija]]
[[it:Depressione]]
[[nl:Depressie]]
[[nds-nl:Depressie]]
[[no:Depresjon]]
[[pl:Depresja]]
[[pt:Depressão]]
[[ru:Депрессия (значения)]]
[[simple:Depression]]
[[sk:Depresia]]
[[sr:Депресија]]
[[sv:Depression (olika betydelser)]]
[[uk:Депресія]]

{{WH}}
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Aspergillosis pathophysiology

2013-12-09T02:04:42Z

Christeen Henen:

__NOTOC__
{{Aspergillosis}}
{{CMG}}; {{AE}}{{CH}}

==Allergic Bronchopulmonary Aspergillosis (ABPA)==

For an unknown reason, patients with allergic bronchopulmonary aspergillosis develop a hypersensitivity response, both a type I response (atopic, with formation of immunoglobulin E or IgE) and a type III hypersensitivity response (with formation of immunoglobulin G or IgG). The reaction of immunoglobulin E with Aspergillus antigens results in mast cell degranulation with bronchoconstriction and increased capillary permeability. Immune complexes (a type III reaction) and inflammatory cells are then deposited within the mucous membranes of the airways, leading to necrosis (tissue death) and an eosinophilic infiltrate. Type 2 T helper cells secreting interleukin 4 and interleukin 5, and attraction of neutrophils by interleukin 8 seem to play an important role.[citation needed]

In spite of this pronounced immune reaction, the fungus is not cleared from the airways. Proteolytic enzymes are released by the immune cells, and toxins are released by the fungi. Together these result in bronchiectasis, most pronounced in the central parts of the airways. Repeated acute episodes left untreated can result in progressive pulmonary fibrosis that is often seen in the upper zones and can give rise to a similar radiological appearance to that produced by tuberculosis.
==Invasive Aspergillosis==
Invasive Aspergillus infection almost always occurs in patients who are immunosuppressed with underlying lung disease, on an immunosuppressive drug therapy, or immunodeficiency.
Aspergillus hyphae are histologically distinct from other fungi in that the hyphae have frequent septae, which branch at 45° angles. The hyphae are best visualized in tissue with silver stains. Although many species of Aspergillus have been isolated in nature, A fumigatus is the most common cause of infection in humans. A flavus and A niger are less common. Likely, this relates to the ability of A fumigatus, but not most other Aspergillus species, to grow at normal human body temperature.
Human host defense against the inhaled spores begins with the mucous layer and the ciliary action in the respiratory tract. Macrophages and neutrophils encompass, engulf, and eradicate the fungus. However, many species of Aspergillus produce toxic metabolites that inhibit macrophage and neutrophil phagocytosis. Corticosteroids also impair macrophage and neutrophil function. Underlying immunosuppression (eg, HIV disease, chronic granulomatous disease, pharmacologic immunosuppression) also contributes directly to neutrophil dysfunction or decreased numbers of neutrophils. In individuals who are immunosuppressed, vascular invasion is much more common and may lead to infarction, hemorrhage, and necrosis of lung tissue. Persons with CNPA typically have granuloma formation and alveolar consolidation. Hyphae may be observed within the granulomata.
==Aspergilloma==
The most common place affected by aspergillomas is the lung. Aspergillus fumigatus, the most common species, is typically inhaled as small (2 to 3 micrometer) spores which do not affect people without underlying lung or immune system disease. However, people who have pre-existing lung problems, especially the cavities typically caused by tuberculosis, are at risk for developing aspergillomata. The fungus settles in a cavity and is able to grow free from interference because the immune system is unable to penetrate into the cavity. As the fungus multiplies, it forms a ball, which incorporates dead tissue from the surrounding lung, mucus, and other debris.[2]
==References==
{{reflist|2}}
[[Category:Needs content]]
{{Mycoses}}

[[Category:Fungal diseases]]
[[Category:Infectious disease]]

}
{{WH}}
{{WS}}

Aspergillosis pathophysiology

2013-12-09T01:43:30Z

Christeen Henen:

Niemann-Pick disease pathophysiology

2013-12-07T19:39:36Z

Christeen Henen:

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}; {{AE}} {{CH}}

==Overview==

==Pathogenesis==
Niemann–Pick diseases are a subgroup of LSDs called sphingolipidoses or lipid storage disorders in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow, and brain.
In the classic infantile type A variant, a missense mutation causes complete deficiency of sphingomyelinase. Sphingomyelin is a component of cell membrane including the organellar membrane and so the enzyme deficiency blocks degradation of lipid, resulting in the accumulation of sphingomyelin within lysosomes in the macrophage-monocyte phagocyte lineage. Affected cells become enlarged, sometimes up to 90 micrometres in diameter, secondary to the distention of lysosomes with sphingomyelin and cholesterol. Histology shows lipid-laden macrophages in the marrow and "sea-blue histiocytes" on pathology. Numerous small vacuoles of relatively uniform size are created, giving the cytoplasm a foamy appearance.

==Genetics==

==Associated Conditions==

==Gross Pathology==

==Microscopic Pathology==

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease classification

2013-12-07T19:34:07Z

Christeen Henen:

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}};{{AE}}{{CH}}

==Overview==

==Classification==
===Types A and B===
Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen ([[hepatosplenomegaly]]), [[failure to thrive]], and progressive deterioration of the [[nervous system]]. Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.

Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent [[lung]] infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of ([[platelets]]). People affected by this type of Niemann-Pick disease usually survive into adulthood. Niemann-Pick disease, type B occurs in all populations.

Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid [[sphingomyelinase]]. This enzyme is found in the [[lysosomes]] (compartments that digest and recycle materials in the cell), where it processes lipids such as [[sphingomyelin]]. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.

===Type C===
Niemann-Pick disease type C (NP-C) is a rare, progressive genetic lysosomal lipid storage disease caused by
mutations in the NPC1 or NPC2 gene. It is a highly heterogeneous disease, characterized by visceral, neurological
and psychiatric manifestations that can present alone, or in specific or non-specific combinations. Moreover, age at onset and disease course vary greatly from one patient to another, including among siblings. Due to its challenging presentation, especially for non-specialists, the disease often remains undetected for many years, with an average delay in diagnosis of 5–6 years from onset of neurological symptoms. Early diagnosis is essential so that therapy with miglustat, the only available disease-specific therapy approved for NP-C, can be initiated as soon as neurological symptoms appear in order to slow the progression of neurological damage.<ref name="Mengel-2013">{{Cite journal | last1 = Mengel | first1 = E. | last2 = Klünemann | first2 = HH. | last3 = Lourenço | first3 = CM. | last4 = Hendriksz | first4 = CJ. | last5 = Sedel | first5 = F. | last6 = Walterfang | first6 = M. | last7 = Kolb | first7 = SA. | title = Niemann-Pick disease type C symptomatology: an expert-based clinical description. | journal = Orphanet J Rare Dis | volume = 8 | issue = 1 | pages = 166 | month = Oct | year = 2013 | doi = 10.1186/1750-1172-8-166 | PMID = 24135395 }}</ref>

Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone ([[dystonia]]), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.

===Biochemical Transport===
The molecular basis for this disease is extremely complex due to the role that [[endosome]] formation has on affected patients. Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.

* The contention by Neufel et al is that the buildup of [[mannose 6-phosphate receptor]]s (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans [[Golgi]] Network cannot occur.<ref name="npp">{{cite journal |author=Neufeld EB, Wastney M, Patel S, et al |title=The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo |journal=J. Biol. Chem. |volume=274 |issue=14 |pages=9627-9635 |year=1999|pmid=10092649 |doi=}}</ref>

* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans [[Golgi]] Network cannot bud and form.

The support of these theories has considerable evidence using mutant proteins [[in vitro]] to determine the buildup of [[cholesterol]] in the [[lysosomes]]. Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.<ref name="tmp">{{cite journal |author=Davies JP, Chen FW, Ioannou YA|title=Transmembrane molecular pump activity of Niemann-Pick C1 protein |journal=Science |volume=290 |issue=5500 |pages=2295-2298 |year=2000 |pmid=11125140|doi=10.1126/science.290.5500.2295}}</ref>

The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease overview

2013-11-14T17:51:13Z

Christeen Henen: /* Overview */

__NOTOC__
{{Niemann-Pick disease}}

==Overview==
'''Niemann-Pick disease (NPD)''' is a group of [[autosomal recessive]] disorders that are classified into two broad types. Types A and B NPD are [[lysosomal storage disease]]s due to [[sphingomyelinase]] deficiency. Type C NPD results from defective intracellular trafficking of cholesterol. Both types are featured by deposition of lipids such as [[cholesterol]], [[sphingomyelin]], and [[bisphosphonate]] in various organs.
Types A and B are charachterized by an early age of onset and progressive CNS disease in type A. Type A typically has onset in the first 6 months, with rapidly progressive CNS deterioration, spasticity, failure to thrive, and massive hepatosplenomegaly. In contrast, type B has a later, more variable onset and progression of hepatosplenomegaly, with eventual development of cirrhosis and hepatic replacement by foam cells. Affected patients develop progressive pulmonary disease with dyspnea, hypoxemia, and a reticular infiltrative pattern on chest x-ray.

The diagnosis is established by markedly decreased (1–10% of normal) sphingomyelinase activity in nucleated cells. There is no specific treatment for Niemann-Pick disease. The efficacy of hepatic or bone marrow transplantation has not been proven yet. Clinical trials using enzyme therapy are expected in the near future.

==References==
{{Reflist|2}}

{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Niemann-Pick disease classification

2013-11-12T20:00:50Z

Christeen Henen: /* Types A and B */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==Classification==
===Types A and B===
Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen ([[hepatosplenomegaly]]), [[failure to thrive]], and progressive deterioration of the [[nervous system]]. Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.

Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent [[lung]] infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of ([[platelets]]). People affected by this type of Niemann-Pick disease usually survive into adulthood. Niemann-Pick disease, type B occurs in all populations.

Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid [[sphingomyelinase]]. This enzyme is found in the [[lysosomes]] (compartments that digest and recycle materials in the cell), where it processes lipids such as [[sphingomyelin]]. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.

===Type C===
Niemann-Pick disease type C (NP-C) is a rare, progressive genetic lysosomal lipid storage disease caused by
mutations in the NPC1 or NPC2 gene. It is a highly heterogeneous disease, characterized by visceral, neurological
and psychiatric manifestations that can present alone, or in specific or non-specific combinations. Moreover, age at onset and disease course vary greatly from one patient to another, including among siblings. Due to its challenging presentation, especially for non-specialists, the disease often remains undetected for many years, with an average delay in diagnosis of 5–6 years from onset of neurological symptoms. Early diagnosis is essential so that therapy with miglustat, the only available disease-specific therapy approved for NP-C, can be initiated as soon as neurological symptoms appear in order to slow the progression of neurological damage.<ref name="Mengel-2013">{{Cite journal | last1 = Mengel | first1 = E. | last2 = Klünemann | first2 = HH. | last3 = Lourenço | first3 = CM. | last4 = Hendriksz | first4 = CJ. | last5 = Sedel | first5 = F. | last6 = Walterfang | first6 = M. | last7 = Kolb | first7 = SA. | title = Niemann-Pick disease type C symptomatology: an expert-based clinical description. | journal = Orphanet J Rare Dis | volume = 8 | issue = 1 | pages = 166 | month = Oct | year = 2013 | doi = 10.1186/1750-1172-8-166 | PMID = 24135395 }}</ref>

Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone ([[dystonia]]), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.

===Biochemical Transport===
The molecular basis for this disease is extremely complex due to the role that [[endosome]] formation has on affected patients. Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.

* The contention by Neufel et al is that the buildup of [[mannose 6-phosphate receptor]]s (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans [[Golgi]] Network cannot occur.<ref name="npp">{{cite journal |author=Neufeld EB, Wastney M, Patel S, et al |title=The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo |journal=J. Biol. Chem. |volume=274 |issue=14 |pages=9627-9635 |year=1999|pmid=10092649 |doi=}}</ref>

* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans [[Golgi]] Network cannot bud and form.

The support of these theories has considerable evidence using mutant proteins [[in vitro]] to determine the buildup of [[cholesterol]] in the [[lysosomes]]. Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.<ref name="tmp">{{cite journal |author=Davies JP, Chen FW, Ioannou YA|title=Transmembrane molecular pump activity of Niemann-Pick C1 protein |journal=Science |volume=290 |issue=5500 |pages=2295-2298 |year=2000 |pmid=11125140|doi=10.1126/science.290.5500.2295}}</ref>

The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease historical perspective

2013-11-07T17:08:27Z

Christeen Henen: /* Discovery */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}; {{AE}} {{CH}}

==Overview==

==Historical Perspective==
===Discovery===
In 1914, A. Niemann reported an 18-month-old girl presented with progressive mental and motor deterioration with [[hepatosplenomegaly]] suggestive of type 2 [[Gaucher disease]]. In 1927, Ludwig Pick described the clinicopathologic features which helped differentiate these two disorders. In 1966, the defective enzyme was first identified by R. O. Brady at the [[National Institutes of Health]] (NIH).
At 1961, A.Crocker proposed the classification adding type C and D.

==References==
{{Reflist|2}}

{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Niemann-Pick disease historical perspective

2013-11-07T16:34:38Z

Christeen Henen: /* Historical Perspective */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}; {{AE}} {{CH}}

==Overview==

==Historical Perspective==
===Discovery===
In 1914, A. Niemann reported an 18-month-old girl presented with progressive mental and motor deterioration with [[hepatosplenomegaly]] suggestive of type 2 [[Gaucher disease]]. In 1927, Ludwig Pick described the clinicopathologic features which helped differentiate these two disorders. In 1966, the defective enzyme was first identified by R. O. Brady at the [[National Institutes of Health]] (NIH).

==References==
{{Reflist|2}}

{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Niemann-Pick disease historical perspective

2013-11-07T16:32:27Z

Christeen Henen:

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}; {{AE}} {{CH}}

==Overview==

==Historical Perspective==
In 1914, A. Niemann reported an 18-month-old girl presented with progressive mental and motor deterioration with [[hepatosplenomegaly]] suggestive of type 2 [[Gaucher disease]]. In 1927, Ludwig Pick described the clinicopathologic features which helped differentiate these two disorders. In 1966, the defective enzyme was first identified by R. O. Brady at the [[National Institutes of Health]] (NIH).

==References==
{{Reflist|2}}

{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Niemann-Pick disease historical perspective

2013-11-07T16:31:10Z

Christeen Henen:

Niemann-Pick disease historical perspective

2013-11-07T16:29:08Z

Christeen Henen:

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==Historical Perspective==
In 1914, A. Niemann reported an 18-month-old girl presented with progressive mental and motor deterioration with [[hepatosplenomegaly]] suggestive of type 2 [[Gaucher disease]]. In 1927, Ludwig Pick described the clinicopathologic features which helped differentiate these two disorders. In 1966, the defective enzyme was first identified by R. O. Brady at the [[National Institutes of Health]] (NIH).

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

D-dimer articles

2013-11-01T14:38:51Z

Christeen Henen: /* D-dimer and Occurrence of VTE */

__NOTOC__
{{CMG}}

==List of Articles==

===D-dimer and Occurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Result Slides''' ||'''Complete Slides Set''' || '''Status (Completed)'''||'''Comments'''
|-
| 12393393 ||{{Rim}}||Completed||Dr. Kay ||Completed
|-
| 19636003 ||{{Rim}}||Completed||Christeen Henen||
|-
| 23645760 ||{{Rim}}||Completed||Mohamed||
|-
| 21463550 ||{{Rim}}||Completed||{{VR}}||Completed
|-
| 9261262 ||{{Rim}}||Completed||{{VR}}||Completed
|-
| 20129998 ||{{Rim}}||Completed|| {{M.P}} ||Completed
|-
| 9635655 ||{{Rim}}||Completed|| {{M.P}}||Completed
|-
| 10193549 ||{{Rim}}||Completed||{{AO}} ||Completed
|-
| 19276795 ||{{Rim}}||Completed||{{AO}} ||Completed
|-
| 22591606 ||{{Rim}}||Completed||{{Ochuko}} ||
|-
| 19333044 ||{{Rim}}||Completed||{{AO}} ||
|-
| 22466814 ||{{Rim}}||Completed|| {{M.P}} ||
|-
| 8784122 ||{{Rim}}||Completed||{{VR}}||Completed
|-
| 22711667 ||{{Rim}}||Completed||{{VR}}||
|-
| 23196757 ||{{Rim}}||Completed||Christeen Henen ||
|-
|}

===D-Dimer and Mortality===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Comments'''
|-
| PMC3409812/ 22371182||Mohamad||Completed || ||Malignancy (Different types)
|-
| 17513096||Dr.K||Completed || || Malignancy (lung cancer)
|-
| 24114016||{{AO}} ||Completed || ||Malignancy (Metaanalysis lung cancer)
|-
| PMC2375200||{{VR}}||Completed || ||Malignancy (Metastatic breast cancer)
|-
| 15486368||Mohamad|| Completed || || Pneumonia
|-
| 22726372||Twinkle || || ||Pneumonia
|-
| 22401156||{{M.P}}|| Completed || || Sepsis
|-
| http://www.nobelmedicus.com/contents/201062/37-42.htm||Chris||Completed|| ||Stroke
|-
| 8711789||Chris||Completed|| || Stroke
|-
| 22259615||{{M.P}}||Completed|| ||Stroke (Poor outcome, not mortality)
|-
| 12105349||Mohamed||Completed || || Stroke
|-
| 16651873||Rim||Completed|| || Stroke (No Association)
|-
| 22109384||Mohamed||Completed||Yes||Yes
|-
| 19806253||Twinkle ||Completed|| reviewed||
|-
| 20871127||Twinkle ||Completed || reviewed ||
|-
| 18028485||{{AO}} ||Completed|| Reviewed ||
|-
| 19691481||{{M.P}} || Completed || Reviewed ||
|-
| 19302447||{{M.P}} || Completed ||Reviewed ||
|-
| 17030057||Mohamed ||Completed||Yes
|-
| 17581488||{{M.P}} ||Completed || Reviewed ||
|-
| 16943732||{{M.P}} || Completed || Reviewed ||
|-
| 20096002||{{VR}} || Completed || Yes ||
|-
| 21288930|| Gerald || Completed || Yes ||
|-
| 22286958||{{Ochuko}} ||Completed ||
|-
| 22322841|| Gerald || Completed || Yes ||
|-
| 16689753||{{Ochuko}} ||Completed || Reviewed ||
|-
| 21901368||Mohamed||Completed || Yes ||
|-
| 17023678||{{VR}}||Completed||Yes||
|-
| 19472201||Twinkle||Completed|| Reviewed
|-
| 23813850||Twinkle||Completed||Reviewed||
|-
| 22795996||{{AO}} ||Completed
|-
| 23645692 ||{{AO}} ||Completed||Reviewed
|-
| 23683952 || Gerald || Completed || Yes ||
|-
| 17003925||Bora ||Completed||Reviewed ||
|-
| 23677634 || Christeen ||Completed|| ||
|}

===D-dimer and Recurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Quality Check'''
|-
| 11848459 || Dr.K||Completed||Reviewed||Yes
|-
| 12941680 ||Bora||Completed
|-
| 12847064 ||{{M.P}}|| Completed || Reviewed ||
|-
| 17065639||{{VR}}||Completed||Yes||
|-
| 15869591||Gerald|| Completed || Yes ||
|-
| 20553388||{{MM}}||Completed|| Yes ||
|-
| 19288181||{{M.P}}|| Completed || Reviewed ||
|-
| 20352167||{{VR}}||Completed||Yes||
|-
| 18443269||Rim|| Completed
|-
| 19965693||{{Ochuko}} ||Completed || Reviewed ||
|-
| 22488507||{{M.P}}|| Completed || Reviewed ||
|-
| 12152661||Twinkle||Completed
|-
| 18838728||Bora ||Completed
|-
| 20956709||Bora ||Completed
|-
| 22489957||Bora ||Completed
|-
|-
| 21847593||{{MM}}||Completed|| Yes ||
|-
| 16363238||Dr.K ||Completed||Reviewed
|-
| 21359409||Twinkle ||Completed
|-
| 12574808||{{VR}}||Completed||Yes
|-
| 16706961||{{MM}}||Completed||Yes||
|-
| 18304616||Twinkle ||Completed
|-
| 18838728 || Gerald || Completed || Yes ||
|-
| 19175498||{{MM}}||Completed||Yes||
|-
| 18948369||{{VR}}||Completed||Yes||
|-
| 18194414||Twinkle ||Completed
|-
| 23196319||{{Ochuko}} ||Completed
|-
| 12393393||Bora ||Completed
|-
| 17940483 || Gerald ||
|-
| 16302157||-||
|}

D-dimer articles

2013-11-01T14:38:19Z

Christeen Henen: /* D-dimer and Occurrence of VTE */

__NOTOC__
{{CMG}}

==List of Articles==

===D-dimer and Occurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Result Slides''' ||'''Complete Slides Set''' || '''Status (Completed)'''||'''Comments'''
|-
| 12393393 ||{{Rim}}||Completed||Dr. Kay ||Completed
|-
| 19636003 ||{{Rim}}||Completed||christeen Henen||
|-
| 23645760 ||{{Rim}}||Completed||Mohamed||
|-
| 21463550 ||{{Rim}}||Completed||{{VR}}||Completed
|-
| 9261262 ||{{Rim}}||Completed||{{VR}}||Completed
|-
| 20129998 ||{{Rim}}||Completed|| {{M.P}} ||Completed
|-
| 9635655 ||{{Rim}}||Completed|| {{M.P}}||Completed
|-
| 10193549 ||{{Rim}}||Completed||{{AO}} ||Completed
|-
| 19276795 ||{{Rim}}||Completed||{{AO}} ||Completed
|-
| 22591606 ||{{Rim}}||Completed||{{Ochuko}} ||
|-
| 19333044 ||{{Rim}}||Completed||{{AO}} ||
|-
| 22466814 ||{{Rim}}||Completed|| {{M.P}} ||
|-
| 8784122 ||{{Rim}}||Completed||{{VR}}||Completed
|-
| 22711667 ||{{Rim}}||Completed||{{VR}}||
|-
| 23196757 ||{{Rim}}||Completed||Christeen Henen ||
|-
|}

===D-Dimer and Mortality===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Comments'''
|-
| PMC3409812/ 22371182||Mohamad||Completed || ||Malignancy (Different types)
|-
| 17513096||Dr.K||Completed || || Malignancy (lung cancer)
|-
| 24114016||{{AO}} ||Completed || ||Malignancy (Metaanalysis lung cancer)
|-
| PMC2375200||{{VR}}||Completed || ||Malignancy (Metastatic breast cancer)
|-
| 15486368||Mohamad|| Completed || || Pneumonia
|-
| 22726372||Twinkle || || ||Pneumonia
|-
| 22401156||{{M.P}}|| Completed || || Sepsis
|-
| http://www.nobelmedicus.com/contents/201062/37-42.htm||Chris||Completed|| ||Stroke
|-
| 8711789||Chris||Completed|| || Stroke
|-
| 22259615||{{M.P}}||Completed|| ||Stroke (Poor outcome, not mortality)
|-
| 12105349||Mohamed||Completed || || Stroke
|-
| 16651873||Rim||Completed|| || Stroke (No Association)
|-
| 22109384||Mohamed||Completed||Yes||Yes
|-
| 19806253||Twinkle ||Completed|| reviewed||
|-
| 20871127||Twinkle ||Completed || reviewed ||
|-
| 18028485||{{AO}} ||Completed|| Reviewed ||
|-
| 19691481||{{M.P}} || Completed || Reviewed ||
|-
| 19302447||{{M.P}} || Completed ||Reviewed ||
|-
| 17030057||Mohamed ||Completed||Yes
|-
| 17581488||{{M.P}} ||Completed || Reviewed ||
|-
| 16943732||{{M.P}} || Completed || Reviewed ||
|-
| 20096002||{{VR}} || Completed || Yes ||
|-
| 21288930|| Gerald || Completed || Yes ||
|-
| 22286958||{{Ochuko}} ||Completed ||
|-
| 22322841|| Gerald || Completed || Yes ||
|-
| 16689753||{{Ochuko}} ||Completed || Reviewed ||
|-
| 21901368||Mohamed||Completed || Yes ||
|-
| 17023678||{{VR}}||Completed||Yes||
|-
| 19472201||Twinkle||Completed|| Reviewed
|-
| 23813850||Twinkle||Completed||Reviewed||
|-
| 22795996||{{AO}} ||Completed
|-
| 23645692 ||{{AO}} ||Completed||Reviewed
|-
| 23683952 || Gerald || Completed || Yes ||
|-
| 17003925||Bora ||Completed||Reviewed ||
|-
| 23677634 || Christeen ||Completed|| ||
|}

===D-dimer and Recurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Quality Check'''
|-
| 11848459 || Dr.K||Completed||Reviewed||Yes
|-
| 12941680 ||Bora||Completed
|-
| 12847064 ||{{M.P}}|| Completed || Reviewed ||
|-
| 17065639||{{VR}}||Completed||Yes||
|-
| 15869591||Gerald|| Completed || Yes ||
|-
| 20553388||{{MM}}||Completed|| Yes ||
|-
| 19288181||{{M.P}}|| Completed || Reviewed ||
|-
| 20352167||{{VR}}||Completed||Yes||
|-
| 18443269||Rim|| Completed
|-
| 19965693||{{Ochuko}} ||Completed || Reviewed ||
|-
| 22488507||{{M.P}}|| Completed || Reviewed ||
|-
| 12152661||Twinkle||Completed
|-
| 18838728||Bora ||Completed
|-
| 20956709||Bora ||Completed
|-
| 22489957||Bora ||Completed
|-
|-
| 21847593||{{MM}}||Completed|| Yes ||
|-
| 16363238||Dr.K ||Completed||Reviewed
|-
| 21359409||Twinkle ||Completed
|-
| 12574808||{{VR}}||Completed||Yes
|-
| 16706961||{{MM}}||Completed||Yes||
|-
| 18304616||Twinkle ||Completed
|-
| 18838728 || Gerald || Completed || Yes ||
|-
| 19175498||{{MM}}||Completed||Yes||
|-
| 18948369||{{VR}}||Completed||Yes||
|-
| 18194414||Twinkle ||Completed
|-
| 23196319||{{Ochuko}} ||Completed
|-
| 12393393||Bora ||Completed
|-
| 17940483 || Gerald ||
|-
| 16302157||-||
|}

D-dimer articles

2013-10-29T19:49:00Z

Christeen Henen: /* D-Dimer and Mortality */

__NOTOC__
{{CMG}}

==List of Articles==

===D-dimer and Occurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Result Slides''' ||'''Complete Slides Set''' || '''Status (Completed)'''||'''Comments'''
|-
| 12393393 ||{{Rim}}||Completed||Dr. Kay ||
|-
| 19636003 ||{{Rim}}||Completed||christeen Henen||
|-
| 23645760 ||{{Rim}}||Completed|| ||
|-
| 21463550 ||{{Rim}}||Completed||{{VR}}||
|-
| 9261262 ||{{Rim}}||Completed||{{VR}}||
|-
| 20129998 ||{{Rim}}||Completed|| {{M.P}} ||
|-
| 9635655 ||{{Rim}}||Completed|| {{M.P}}||
|-
| 10193549 ||{{Rim}}||Completed||{{AO}} ||
|-
| 19276795 ||{{Rim}}||Completed|| ||
|-
| 22591606 ||{{Rim}}||Completed|| ||
|-
| 19333044 ||{{Rim}}||Completed|| ||
|-
| 22466814 ||{{Rim}}||Completed|| ||
|-
| 8784122 ||{{Rim}}||Completed|| ||
|-
| 22711667 ||{{Rim}}||Completed|| ||
|-
| 23196757 ||{{Rim}}||Completed|| ||
|-
|}

===D-Dimer and Mortality===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Comments'''
|-
| PMC3409812/ 22371182||Mohamad||Completed || ||Malignancy (Different types)
|-
| 17513096||Dr.K||Completed || || Malignancy (lung cancer)
|-
| 24114016||{{AO}} ||Completed || ||Malignancy (Metaanalysis lung cancer)
|-
| PMC2375200||{{VR}}||Completed || ||Malignancy (Metastatic breast cancer)
|-
| 15486368||Mohamad|| Completed || || Pneumonia
|-
| 22726372||Twinkle || || ||Pneumonia
|-
| 22401156||{{M.P}}|| Completed || || Sepsis
|-
| http://www.nobelmedicus.com/contents/201062/37-42.htm||Chris||Completed|| ||Stroke
|-
| 8711789||Chris||Completed|| || Stroke
|-
| 22259615||{{M.P}}||Completed|| ||Stroke (Poor outcome, not mortality)
|-
| 12105349||Mohamed||Completed || || Stroke
|-
| 16651873||Rim||Completed|| || Stroke (No Association)
|-
| 22109384||Mohamed||Completed||Yes||Yes
|-
| 19806253||Twinkle ||Completed|| reviewed||
|-
| 20871127||Twinkle ||Completed || reviewed ||
|-
| 18028485||{{AO}} ||Completed|| Reviewed ||
|-
| 19691481||{{M.P}} || Completed || Reviewed ||
|-
| 19302447||{{M.P}} || Completed ||Reviewed ||
|-
| 17030057||Mohamed ||Completed||Yes
|-
| 17581488||{{M.P}} ||Completed || Reviewed ||
|-
| 16943732||{{M.P}} || Completed || Reviewed ||
|-
| 20096002||{{VR}} || Completed || Yes ||
|-
| 21288930|| Gerald || Completed || Yes ||
|-
| 22286958||{{Ochuko}} ||Completed ||
|-
| 22322841|| Gerald || Completed || Yes ||
|-
| 16689753||{{Ochuko}} ||Completed || Reviewed ||
|-
| 21901368||Mohamed||Completed || Yes ||
|-
| 17023678||{{VR}}||Completed||Yes||
|-
| 19472201||Twinkle||Completed|| Reviewed
|-
| 23813850||Twinkle||Completed||Reviewed||
|-
| 22795996||{{AO}} ||Completed
|-
| 23645692 ||{{AO}} ||Completed||Reviewed
|-
| 23683952 || Gerald || Completed || Yes ||
|-
| 17003925||Bora ||Completed||Reviewed ||
|-
| 23677634 || Christeen ||Completed|| ||
|}

===D-dimer and Recurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Quality Check'''
|-
| 11848459 || Dr.K||Completed||Reviewed||Yes
|-
| 12941680 ||Bora||Completed
|-
| 12847064 ||{{M.P}}|| Completed || Reviewed ||
|-
| 17065639||{{VR}}||Completed||Yes||
|-
| 15869591||Gerald|| Completed || Yes ||
|-
| 20553388||{{MM}}||Completed|| Yes ||
|-
| 19288181||{{M.P}}|| Completed || Reviewed ||
|-
| 20352167||{{VR}}||Completed||Yes||
|-
| 18443269||Rim|| Completed
|-
| 19965693||{{Ochuko}} ||Completed
|-
| 22488507||{{M.P}}|| Completed || Reviewed ||
|-
| 12152661||Twinkle||Completed
|-
| 18838728||Bora ||Completed
|-
| 20956709||Bora ||Completed
|-
| 22489957||Bora ||Completed
|-
|-
| 21847593||{{MM}}||Completed
|-
| 16363238||Dr.K ||Completed||Reviewed
|-
| 21359409||Twinkle ||Completed
|-
| 12574808||{{VR}}||Completed||Yes
|-
| 16706961||{{MM}}||Completed||Yes||
|-
| 18304616||Twinkle ||Completed
|-
| 18838728 || Gerald || Completed || Yes ||
|-
| 19175498||{{MM}}||Completed||Yes||
|-
| 18948369||{{VR}}||Completed||Yes||
|-
| 18194414||Twinkle ||Completed
|-
| 23196319||{{Ochuko}} ||Completed
|-
| 12393393||Bora ||Completed
|-
| 17940483 || Gerald ||
|-
| 16302157||-||
|}

D-dimer articles

2013-10-29T19:48:23Z

Christeen Henen: /* D-Dimer and Mortality */

__NOTOC__
{{CMG}}

==List of Articles==

===D-dimer and Occurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Result Slides''' ||'''Complete Slides Set''' || '''Status (Completed)'''||'''Comments'''
|-
| 12393393 ||{{Rim}}||Completed||Dr. Kay ||
|-
| 19636003 ||{{Rim}}||Completed||christeen Henen||
|-
| 23645760 ||{{Rim}}||Completed|| ||
|-
| 21463550 ||{{Rim}}||Completed||{{VR}}||
|-
| 9261262 ||{{Rim}}||Completed||{{VR}}||
|-
| 20129998 ||{{Rim}}||Completed|| {{M.P}} ||
|-
| 9635655 ||{{Rim}}||Completed|| {{M.P}}||
|-
| 10193549 ||{{Rim}}||Completed||{{AO}} ||
|-
| 19276795 ||{{Rim}}||Completed|| ||
|-
| 22591606 ||{{Rim}}||Completed|| ||
|-
| 19333044 ||{{Rim}}||Completed|| ||
|-
| 22466814 ||{{Rim}}||Completed|| ||
|-
| 8784122 ||{{Rim}}||Completed|| ||
|-
| 22711667 ||{{Rim}}||Completed|| ||
|-
| 23196757 ||{{Rim}}||Completed|| ||
|-
|}

===D-Dimer and Mortality===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Comments'''
|-
| PMC3409812/ 22371182||Mohamad||Completed || ||Malignancy (Different types)
|-
| 17513096||Dr.K||Completed || || Malignancy (lung cancer)
|-
| 24114016||{{AO}} ||Completed || ||Malignancy (Metaanalysis lung cancer)
|-
| PMC2375200||{{VR}}||Completed || ||Malignancy (Metastatic breast cancer)
|-
| 15486368||Mohamad|| Completed || || Pneumonia
|-
| 22726372||Twinkle || || ||Pneumonia
|-
| 22401156||{{M.P}}|| Completed || || Sepsis
|-
| http://www.nobelmedicus.com/contents/201062/37-42.htm||Chris||Completed|| ||Stroke
|-
| 8711789||Chris||Completed|| || Stroke
|-
| 22259615||{{M.P}}||Completed|| ||Stroke (Poor outcome, not mortality)
|-
| 12105349||Mohamed||Completed || || Stroke
|-
| 16651873||Rim||Completed|| || Stroke (No Association)
|-
| 22109384||Mohamed||Completed||Yes||Yes
|-
| 19806253||Twinkle ||Completed|| reviewed||
|-
| 20871127||Twinkle ||Completed || reviewed ||
|-
| 18028485||{{AO}} ||Completed|| Reviewed ||
|-
| 19691481||{{M.P}} || Completed || Reviewed ||
|-
| 19302447||{{M.P}} || Completed ||Reviewed ||
|-
| 17030057||Mohamed ||Completed||Yes
|-
| 17581488||{{M.P}} ||Completed || Reviewed ||
|-
| 16943732||{{M.P}} || Completed || Reviewed ||
|-
| 20096002||{{VR}} || Completed || Yes ||
|-
| 21288930|| Gerald || Completed || Yes ||
|-
| 22286958||{{Ochuko}} ||Completed ||
|-
| 22322841|| Gerald || Completed || Yes ||
|-
| 16689753||{{Ochuko}} ||Completed || Reviewed ||
|-
| 21901368||Mohamed||Completed || Yes ||
|-
| 17023678||{{VR}}||Completed||Yes||
|-
| 19472201||Twinkle||Completed|| Reviewed
|-
| 23813850||Twinkle||Completed||Reviewed||
|-
| 22795996||{{AO}} ||Completed
|-
| 23645692 ||{{AO}} ||Completed||Reviewed
|-
| 23683952 || Gerald || Completed || Yes ||
|-
| 17003925||Bora ||Completed||Reviewed ||
|-
| 23677634 || Christeen ||completed|| ||
|}

===D-dimer and Recurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Quality Check'''
|-
| 11848459 || Dr.K||Completed||Reviewed||Yes
|-
| 12941680 ||Bora||Completed
|-
| 12847064 ||{{M.P}}|| Completed || Reviewed ||
|-
| 17065639||{{VR}}||Completed||Yes||
|-
| 15869591||Gerald|| Completed || Yes ||
|-
| 20553388||{{MM}}||Completed|| Yes ||
|-
| 19288181||{{M.P}}|| Completed || Reviewed ||
|-
| 20352167||{{VR}}||Completed||Yes||
|-
| 18443269||Rim|| Completed
|-
| 19965693||{{Ochuko}} ||Completed
|-
| 22488507||{{M.P}}|| Completed || Reviewed ||
|-
| 12152661||Twinkle||Completed
|-
| 18838728||Bora ||Completed
|-
| 20956709||Bora ||Completed
|-
| 22489957||Bora ||Completed
|-
|-
| 21847593||{{MM}}||Completed
|-
| 16363238||Dr.K ||Completed||Reviewed
|-
| 21359409||Twinkle ||Completed
|-
| 12574808||{{VR}}||Completed||Yes
|-
| 16706961||{{MM}}||Completed||Yes||
|-
| 18304616||Twinkle ||Completed
|-
| 18838728 || Gerald || Completed || Yes ||
|-
| 19175498||{{MM}}||Completed||Yes||
|-
| 18948369||{{VR}}||Completed||Yes||
|-
| 18194414||Twinkle ||Completed
|-
| 23196319||{{Ochuko}} ||Completed
|-
| 12393393||Bora ||Completed
|-
| 17940483 || Gerald ||
|-
| 16302157||-||
|}

D-dimer articles

2013-10-29T02:29:07Z

Christeen Henen: /* D-dimer and Occurrence of VTE */

__NOTOC__
{{CMG}}

==List of Articles==

===D-dimer and Occurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Result Slides''' ||'''Complete Slides Set''' || '''Status (Completed)'''||'''Comments'''
|-
| 12393393 ||{{Rim}}||Completed||Dr. Kay ||
|-
| 19636003 ||{{Rim}}||Completed||christeen Henen||
|-
| 23645760 ||{{Rim}}||Completed|| ||
|-
| 21463550 ||{{Rim}}||Completed||Vendhan||
|-
| 9261262 ||{{Rim}}||Completed|| ||
|-
| 20129998 ||{{Rim}}||Completed|| {{M.P}} ||
|-
| 9635655 ||{{Rim}}||Completed|| {{M.P}}||
|-
| 10193549 ||{{Rim}}||Completed|| ||
|-
| 19276795 ||{{Rim}}||Completed|| ||
|-
| 22591606 ||{{Rim}}||Completed|| ||
|-
| 19333044 ||{{Rim}}||Completed|| ||
|-
| 22466814 ||{{Rim}}||Completed|| ||
|-
| 8784122 ||{{Rim}}||Completed|| ||
|-
| 22711667 ||{{Rim}}||Completed|| ||
|-
| 23196757 ||{{Rim}}||Completed|| ||
|-
|}

===D-Dimer and Mortality===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Comments'''
|-
| PMC3409812/ 22371182||Mohamad||Completed || ||Malignancy (Different types)
|-
| 17513096||Dr.K||Completed || || Malignancy (lung cancer)
|-
| 24114016||{{AO}} ||Completed || ||Malignancy (Metaanalysis lung cancer)
|-
| PMC2375200||{{VR}}||Completed || ||Malignancy (Metastatic breast cancer)
|-
| 15486368||Mohamad|| Completed || || Pneumonia
|-
| 22726372||Twinkle || || ||Pneumonia
|-
| 22401156||{{M.P}}|| Completed || || Sepsis
|-
| http://www.nobelmedicus.com/contents/201062/37-42.htm||Chris||Completed|| ||Stroke
|-
| 8711789||Chris||Completed|| || Stroke
|-
| 22259615||{{M.P}}||Completed|| ||Stroke (Poor outcome, not mortality)
|-
| 12105349||Mohamed||Completed || || Stroke
|-
| 16651873||Rim||Completed|| || Stroke (No Association)
|-
| 22109384||Mohamed||Completed||Yes||Yes
|-
| 19806253||Twinkle ||Completed|| reviewed||
|-
| 20871127||Twinkle ||Completed || reviewed ||
|-
| 18028485||{{AO}} ||Completed|| Reviewed ||
|-
| 19691481||{{M.P}} || Completed || Reviewed ||
|-
| 19302447||{{M.P}} || Completed ||Reviewed ||
|-
| 17030057||Mohamed ||Completed||Yes
|-
| 17581488||{{M.P}} ||Completed || Reviewed ||
|-
| 16943732||{{M.P}} || Completed || Reviewed ||
|-
| 20096002||{{VR}} || Completed || Yes ||
|-
| 21288930|| Gerald || Completed || Yes ||
|-
| 22286958||{{Ochuko}} ||Completed ||
|-
| 22322841|| Gerald || Completed || Yes ||
|-
| 16689753||{{Ochuko}} ||Completed || Reviewed ||
|-
| 21901368||Mohamed||Completed || Yes ||
|-
| 17023678||{{VR}}||Completed||Yes||
|-
| 19472201||Twinkle||Completed|| Reviewed
|-
| 23813850||Twinkle||Completed||Reviewed||
|-
| 22795996||{{AO}} ||Completed
|-
| 23645692 ||{{AO}} ||Completed||Reviewed
|-
| 23683952 || Gerald || Completed || Yes ||
|-
| 17003925||Bora ||Completed||Reviewed ||
|-
| 23677634 || Christeen || || ||
|}

===D-dimer and Recurrence of VTE===
{| class="wikitable" border="1" style="background:FloralWhite"
| '''Pubmed ID''' || '''Name''' ||'''Status (Completed)''' || '''Reviewed by the Author'''||'''Quality Check'''
|-
| 11848459 || Dr.K||Completed||Reviewed||Yes
|-
| 12941680 ||Bora||Completed
|-
| 12847064 ||{{M.P}}|| Completed || Reviewed ||
|-
| 17065639||{{VR}}||Completed||Yes||
|-
| 15869591||Gerald|| Completed || Yes ||
|-
| 20553388||{{MM}}||Completed|| Yes ||
|-
| 19288181||{{M.P}}|| Completed || Reviewed ||
|-
| 20352167||{{VR}}||Completed||Yes||
|-
| 18443269||Rim|| Completed
|-
| 19965693||{{Ochuko}} ||Completed
|-
| 22488507||{{M.P}}|| Completed || Reviewed ||
|-
| 12152661||Twinkle||Completed
|-
| 18838728||Bora ||Completed
|-
| 20956709||Bora ||Completed
|-
| 22489957||Bora ||Completed
|-
|-
| 21847593||{{MM}}||Completed
|-
| 16363238||Dr.K ||Completed||Reviewed
|-
| 21359409||Twinkle ||Completed
|-
| 12574808||{{VR}}||Completed||Yes
|-
| 16706961||{{MM}}||Completed||Yes||
|-
| 18304616||Twinkle ||Completed
|-
| 18838728 || Gerald || Completed || Yes ||
|-
| 19175498||{{MM}}||Completed||Yes||
|-
| 18948369||{{VR}}||Completed||Yes||
|-
| 18194414||Twinkle ||Completed
|-
| 23196319||{{Ochuko}} ||Completed
|-
| 12393393||Bora ||Completed
|-
| 17940483 || Gerald ||
|-
| 16302157||-||
|}

Niemann-Pick disease laboratory findings

2013-10-23T19:43:21Z

Christeen Henen: /* Laboratory Findings */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==
The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The ﬁlipin test is currently the most sensitive and speciﬁc assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.<ref name="Kheder-2013">{{Cite journal | last1 = Kheder | first1 = A. | last2 = Scott | first2 = C. | last3 = Olpin | first3 = S. | last4 = Hadjivassiliou | first4 = M. | title = Niemann-Pick type C: a potentially treatable disorder? | journal = Pract Neurol | volume = | issue = | pages = | month = Aug | year = 2013 | doi = 10.1136/practneurol-2013-000525 | PMID = 23906593 }}</ref>

==Laboratory Findings==

===Diagnostic Algorithm for Niemann-Pick Disease===
{{Family tree/start |summary=Diagnostic Algorithm for NP-C}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | | | | | | | | A01 = Skin biopsy}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree | | | | | | | | | | | | | | | | | | | | | B01 | | | | | | | | | | | | | | | | | | | | | | | | | | | B01 = Filipin test}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | |,|-|-|-|-|-|-|-|v|-|-|-|-|-|-|-|^|-|-|-|-|-|-|-|v|-|-|-|-|-|-|-|.| | | | | | | | | |}}
{{Family tree | | | | | |!| | | | | | | |!| | | | | | | | | | | | | | | |!| | | | | | | |!| | | | | | | | | |}}
{{Family tree | |,|-|-| C01 | | | | | | C02 |-|-|-|.| | | | | | | | | | C03 | | | | | | C04 | | | | | | | | | | | | C01 = Highly positive | C02 = Moderately positive | C03 = Difficult interpretation | C04 = Clearly negative }}
{{Family tree | |!| | | |!| | | | | | | |!| | | | |!| | | | | | | | | | |!| | | | | | | |!| | | | | | | | | |}}
{{Family tree | |!| | | |`|-|-|-|v|-|-|-|'| | | | |!| | | | | | | | | | |!| | | | | | | |!| | | | | | | | | |}}
{{Family tree | |!| | | | | | | |!| | | | | | | | |!| | | | | | | | | | |!| | | | | | | |!| | | | | | | | | |}}
{{Family tree | |!| | | | | | | |!| | | | | | | | |`|-|-|-|-|v|-|-|-|-| D02 | | | | | | D03 | | | | | | | | | | D02 = Reassess clinical features | D03 = a priori, not NP-C}}
{{Family tree | |!| | | | | | | |!| | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | }}
{{Family tree | |!| | | | | | | D01 | | | | | | | | | | | | D04 | | | | | | | | | | | | | | | | | | | | | | | |D01 = Kinetics of LDL-induced cholesteryl ester formation | D04 = NPC1 mutation p.P1007A and codon 992}}
{{Family tree | |!| | | | | | | |!| | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | |`|-|-|-|-|-|-|-|+|-|-|-|-|-|-|-|-|-|-|-|-|-|'| | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree | | | | | | | | | E01 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | E01 = Sequencing opf NPC1 and NPC2 gene}}
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}}
{{Family tree/end}}

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease laboratory findings

2013-10-23T18:51:51Z

Christeen Henen: /* Overview */

Niemann-Pick disease laboratory findings

2013-10-23T18:48:48Z

Christeen Henen: /* Overview */

Niemann-Pick disease pathophysiology

2013-10-23T18:29:51Z

Christeen Henen:

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}; {{AE}} {{CH}}

==Overview==

==Pathogenesis==

==Genetics==

==Associated Conditions==

==Gross Pathology==

==Microscopic Pathology==

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Splenomegaly physical examination

2013-10-23T16:36:43Z

Christeen Henen: /* Physical Examination */

__NOTOC__
{{Splenomegaly}}
Please help WikiDoc by adding more content here. It's easy! Click [[Help:How_to_Edit_a_Page|here]] to learn about editing.

{{CMG}}

==Physical Examination==

===Abdomen===
In young patients, splenomegaly can be assessed by turning the patient on the right side in order to have the
spleen falling downwards. In this position, the spleen should not be palpable under normal conditions. A palpable
spleen indicates that its size is increased by at least two-fold. In adolescent and adult patients, mild splenomegaly may only be detected by abdominal imaging such as ultrasound.<ref name="Patterson-2012">{{Cite journal | last1 = Patterson | first1 = MC. | last2 = Hendriksz | first2 = CJ. | last3 = Walterfang | first3 = M. | last4 = Sedel | first4 = F. | last5 = Vanier | first5 = MT. | last6 = Wijburg | first6 = F. | last7 = Baumgartner | first7 = M. | last8 = Bembi | first8 = B. | last9 = Bonnot | first9 = C. | title = Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. | journal = Mol Genet Metab | volume = 106 | issue = 3 | pages = 330-44 | month = Jul | year = 2012 | doi = 10.1016/j.ymgme.2012.03.012 | PMID = 22572546 }}</ref>

* Palpable left upper quadrant [[abdominal mass]]
* Splenic rub
* [[Castell's sign]]<ref name="pmid8411607">{{cite journal |author=Grover SA, Barkun AN, Sackett DL |title=The rational clinical examination. Does this patient have splenomegaly? |journal=JAMA |volume=270 |issue=18 |pages=2218-21 |year=1993 |pmid=8411607 |doi=}} [http://gateway.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8411607.ui Ovid full text]</ref>

==References==
{{Reflist|2}}

[[Category:Needs content]]
[[Category:Medical signs]]
[[Category:Signs and symptoms]]
[[Category:Physical examination]]
[[Category:Hematology]]
[[Category:Gastroenterology]]
[[Category:Primary care]]

{{WH}}
{{WS}}

Niemann-Pick disease history and symptoms

2013-10-23T16:28:23Z

Christeen Henen: /* Visceral symptoms */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==History==

==Symptoms==
===Niemann-Pick Disease Type C===
====Visceral symptoms====
Isolated unexplained [[splenomegaly]] with or without [[hepatomegaly]], is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including vertical supranuclear gaze palsy (VSGP), [[ataxia]] and [[schizophrenia]]-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C ranges from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C.<ref name="Mengel-2013">{{Cite journal | last1 = Mengel | first1 = E. | last2 = Klünemann | first2 = HH. | last3 = Lourenço | first3 = CM. | last4 = Hendriksz | first4 = CJ. | last5 = Sedel | first5 = F. | last6 = Walterfang | first6 = M. | last7 = Kolb | first7 = SA. | title = Niemann-Pick disease type C symptomatology: an expert-based clinical description. | journal = Orphanet J Rare Dis | volume = 8 | issue = 1 | pages = 166 | month = Oct | year = 2013 | doi = 10.1186/1750-1172-8-166 | PMID = 24135395 }}</ref>

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease history and symptoms

2013-10-23T16:24:38Z

Christeen Henen: /* Niemann-Pick Disease Type C */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==History==

==Symptoms==
===Niemann-Pick Disease Type C===
====Visceral symptoms====
Isolated unexplained [[splenomegaly]] with or without [[hepatomegaly]], is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including vertical supranuclear gaze palsy (VSGP), [[ataxia]] and [[schizophrenia]]-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C ranges from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C. In young patients, splenomegaly can be assessed by turning the patient on the right side in order to have the spleen falling downwards. In this position, the spleen should not be palpable under normal conditions. A palpable spleen indicates that its size is increased by at least two-fold. In adolescent and adult patients, mild splenomegaly may only be detected by abdominal imaging such as ultrasound.<ref name="Mengel-2013">{{Cite journal | last1 = Mengel | first1 = E. | last2 = Klünemann | first2 = HH. | last3 = Lourenço | first3 = CM. | last4 = Hendriksz | first4 = CJ. | last5 = Sedel | first5 = F. | last6 = Walterfang | first6 = M. | last7 = Kolb | first7 = SA. | title = Niemann-Pick disease type C symptomatology: an expert-based clinical description. | journal = Orphanet J Rare Dis | volume = 8 | issue = 1 | pages = 166 | month = Oct | year = 2013 | doi = 10.1186/1750-1172-8-166 | PMID = 24135395 }}</ref>

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease history and symptoms

2013-10-23T16:15:22Z

Christeen Henen: /* Visceral symptoms */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==History==

==Symptoms==
===Niemann-Pick Disease Type C===
====Visceral symptoms====
Isolated unexplained [[splenomegaly]] with or without [[hepatomegaly]], is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including Vertical supranuclear gaze palsy, ataxia and schizophrenia-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C is ranging from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C. In young patients, splenomegaly can be assessed by turning the patient on the right side in order to have the spleen falling downwards. In this position, the spleen should not be palpable under normal conditions. A palpable spleen indicates that its size is increased by at least two-fold. In adolescent and adult patients, mild splenomegaly may only be detected by abdominal imaging such as ultrasound.<ref name="Mengel-2013">{{Cite journal | last1 = Mengel | first1 = E. | last2 = Klünemann | first2 = HH. | last3 = Lourenço | first3 = CM. | last4 = Hendriksz | first4 = CJ. | last5 = Sedel | first5 = F. | last6 = Walterfang | first6 = M. | last7 = Kolb | first7 = SA. | title = Niemann-Pick disease type C symptomatology: an expert-based clinical description. | journal = Orphanet J Rare Dis | volume = 8 | issue = 1 | pages = 166 | month = Oct | year = 2013 | doi = 10.1186/1750-1172-8-166 | PMID = 24135395 }}</ref>

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease history and symptoms

2013-10-23T16:12:33Z

Christeen Henen: /* Symptoms */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==History==

==Symptoms==
===Niemann-Pick Disease Type C===
====Visceral symptoms====
Isolated unexplained [[splenomegaly]] with or without [[hepatomegaly]], is observed in the majority of patients with NP-C and is the strongest visceral indicator of the disease. When present in combination with other neurological and/or psychiatric symptoms, including Vertical supranuclear gaze palsy, ataxia and schizophrenia-like symptoms, isolated splenomegaly becomes highly suggestive of NP-C. Isolated unexplained splenomegaly should always lead to the inclusion of NP-C in the differential diagnosis, and hence trigger a search for other symptoms of the disease. Splenomegaly in NP-C is ranging from slight to tremendous enlargement, even in young children. Importantly, the degree of splenomegaly does not correlate with neurological manifestations, disease severity or illness stage. Absence of splenomegaly should not lead to the exclusion of NP-C. In young patients, splenomegaly can be assessed by turning the patient on the right side in order to have the spleen falling downwards. In this position, the spleen should not be palpable under normal conditions. A palpable spleen indicates that its size is increased by at least two-fold. In adolescent and adult patients, mild splenomegaly may only be detected by abdominal imaging such as ultrasound.

==References==
{{Reflist|2}}

{{WH}}
{{WS}}

Niemann-Pick disease classification

2013-10-23T15:40:46Z

Christeen Henen: /* Type C */

__NOTOC__
{{Niemann-Pick disease}}

{{CMG}}

==Overview==

==Classification==
===Types A and B===
Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen ([[hepatosplenomegaly]]), [[failure to thrive]], and progressive deterioration of the [[nervous system]]. Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.

Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent [[lung]] infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of [[blood cell]]s involved in clotting ([[platelets]]). People affected by this type of Niemann-Pick disease usually survive into adulthood. Niemann-Pick disease, type B occurs in all populations.

Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid [[sphingomyelinase]]. This enzyme is found in the [[lysosomes]] (compartments that digest and recycle materials in the cell), where it processes lipids such as [[sphingomyelin]]. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.

===Type C===
Niemann-Pick disease type C (NP-C) is a rare, progressive genetic lysosomal lipid storage disease caused by
mutations in the NPC1 or NPC2 gene. It is a highly heterogeneous disease, characterized by visceral, neurological
and psychiatric manifestations that can present alone, or in specific or non-specific combinations. Moreover, age at onset and disease course vary greatly from one patient to another, including among siblings. Due to its challenging presentation, especially for non-specialists, the disease often remains undetected for many years, with an average delay in diagnosis of 5–6 years from onset of neurological symptoms. Early diagnosis is essential so that therapy with miglustat, the only available disease-specific therapy approved for NP-C, can be initiated as soon as neurological symptoms appear in order to slow the progression of neurological damage.<ref name="Mengel-2013">{{Cite journal | last1 = Mengel | first1 = E. | last2 = Klünemann | first2 = HH. | last3 = Lourenço | first3 = CM. | last4 = Hendriksz | first4 = CJ. | last5 = Sedel | first5 = F. | last6 = Walterfang | first6 = M. | last7 = Kolb | first7 = SA. | title = Niemann-Pick disease type C symptomatology: an expert-based clinical description. | journal = Orphanet J Rare Dis | volume = 8 | issue = 1 | pages = 166 | month = Oct | year = 2013 | doi = 10.1186/1750-1172-8-166 | PMID = 24135395 }}</ref>

Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone ([[dystonia]]), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.

===Biochemical Transport===
The molecular basis for this disease is extremely complex due to the role that [[endosome]] formation has on affected patients. Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.

* The contention by Neufel et al is that the buildup of [[mannose 6-phosphate receptor]]s (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans [[Golgi]] Network cannot occur.<ref name="npp">{{cite journal |author=Neufeld EB, Wastney M, Patel S, et al |title=The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo |journal=J. Biol. Chem. |volume=274 |issue=14 |pages=9627-9635 |year=1999|pmid=10092649 |doi=}}</ref>

* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans [[Golgi]] Network cannot bud and form.

The support of these theories has considerable evidence using mutant proteins [[in vitro]] to determine the buildup of [[cholesterol]] in the [[lysosomes]]. Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.<ref name="tmp">{{cite journal |author=Davies JP, Chen FW, Ioannou YA|title=Transmembrane molecular pump activity of Niemann-Pick C1 protein |journal=Science |volume=290 |issue=5500 |pages=2295-2298 |year=2000 |pmid=11125140|doi=10.1126/science.290.5500.2295}}</ref>

The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.

==References==
{{Reflist|2}}

{{WH}}
{{WS}}