Property:AnswerBExp
Jump to navigation
Jump to search
W
Turner syndrome is caused by a genetic disorder characterized by an absence of an X chromosome due to non-dysjunction. Patient's karyotype demonstrates a 44+XO pattern. Patients with Turner syndrome often have short stature when their syndrome is left untreated, neck and shoulder webbing, and ovarian dysgenesis. Turner syndrome is also associated with bicuspid aortic valve, shield chest, coarctation of the aorta (classically preductal), cystic hygroma, and horseshoe kidney. Turner syndrome is not classically associated with rubella infection during pregnancy. +
This is not the correct dosing regimen for treating adults and children with onchocerciasis. The correct dose is 150 micrograms per kilogram in one dose every six months. +
Infant serum-VDRL is a quantitative non-treponemal serologic test. Infant serum VDRl or RPR should be performed on infants born to reactive mothers. +
Correct- Airflow obstruction can be shown by spirometry revealing an FEV1 of <80% predicted or an FEV1/FVC(forced vital capacity) of <65% of the lower limit of normal. Reversibility can be shown by an FEV1 increase of 15% and at least 200 mL with the use of a short-acting beta agonist like inhaled albuterol. +
This sequence comprises two mutations: One mutation from 5'...GGC T to GGT...3' reflects a one base pair deletion; while the other is a one base pair insertion after 5'...AAG AAG T...3' to 5'...AAG AAG AT...3'. The first mutation disrupts the frame of the sequence whereas the second mutation restores it. The above sequence thus reflects 5 missense mutations with no nonsense mutations. The series of two mutations is extremely unlikely and does not commonly explain the genetic disorder observed in Duchenne muscular dystrophy. +
While a deletion of the wild type allele of the ''RB'' gene could cause the “second hit” to the ''RB'' gene, the normal karyotype of chromosome 13 makes this possibility less likely. +
Polycystins, which are the defect proteins among patients with ADPKD, regulate the cell cycle and the function of renal primary (immotile) cilium. +
The deletion of G at the first position of the 4th codon in GGC causes a small frameshift mutation due to deletion of just 1 nucleotide. Small frameshift mutations account a smaller percentage of mutations that cause DMD. +
Patients with Klinefelter's syndrome have an additional X chromosome. The total number of chromosomes is thus 47, not 44. Denoting a karyotype includes the ''total'' number of chromosomes, including autosomes and sex chromosomes, followed by the identity of sex chromosomes. +
Long QT syndromes, such as LQT1 and LQT2, are caused by potassium channel gene mutations ''KCNQ1'' and ''KCNE2'', respectively. Also, Jervell and Lange-Nielsen (JLN) syndrome is a rare but clinically significant long QT syndrome that involves potassium channel mutations. +
Also a common complication of this fracture, but neuopraxias are more common. It presents as cold, pale, and pulseless hand. long term complication can lead to Volkmann's contracture, also known as Volkmann's ischaemic contracture, which is a permanent flexion contracture of the hand at the wrist, resulting in a claw-like deformity of the hand and fingers. +
Incorrect. Acoustic neuroma (sometimes termed a neurolemmoma or schwannoma) is a benign (noncancerous) tissue growth that arises on the eighth cranial nerve leading from the brain to the inner ear. Acoustic neuromas usually grow slowly over a period of years. They expand in size at their site of origin, and when large, can displace normal brain tissue. The brain is not invaded by the tumor, but the tumor pushes the brain as it enlarges. The slowly enlarging tumor protrudes from the internal auditory canal into an area behind the temporal bone called the cerebellopontine angle. Since the balance portion of the eighth nerve is where the tumor arises, unsteadiness and balance problems may occur during the growth of the neuroma. The most common presentation is unilateral hearing loss. +
This is not a presentation of acute hepatitis A, which usually has very high transaminases. The antibody to hepatitis A virus occurs after a month and is associated with high transaminases. Hepatitis A vaccine is indicated for patients with chronic liver disease. +
Incorrect. Acoustic neuroma (sometimes termed a neurolemmoma or schwannoma) is a benign (noncancerous) tissue growth that arises on the eighth cranial nerve leading from the brain to the inner ear. Acoustic neuromas usually grow slowly over a period of years. They expand in size at their site of origin, and when large, can displace normal brain tissue. The brain is not invaded by the tumor, but the tumor pushes the brain as it enlarges. The slowly enlarging tumor protrudes from the internal auditory canal into an area behind the temporal bone called the cerebellopontine angle. Since the balance portion of the eighth nerve is where the tumor arises, unsteadiness and balance problems may occur during the growth of the neuroma. The most common presentation is unilateral hearing loss. +
Hashimoto's thyroiditis does not usually increase the risk of developing follicular carcinoma of the thyroid. Follicular thyroid carcinoma is associated with a good prognosis and may be associated with ''RAS'' mutations. +