https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&feed=atom&action=history
Abetalipoproteinemia - Revision history
2024-03-29T14:34:33Z
Revision history for this page on the wiki
MediaWiki 1.40.0
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303244&oldid=prev
Aravind Kuchkuntla: /* Laboratory Findings */
2017-03-29T16:00:38Z
<p><span dir="auto"><span class="autocomment">Laboratory Findings</span></span></p>
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 16:00, 29 March 2017</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*[[Peripheral blood smear]] demonstrates 50 to 90% of [[acanthocytes]], with increased [[erythrocyte fragility]].</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*[[Peripheral blood smear]] demonstrates 50 to 90% of [[acanthocytes]], with increased [[erythrocyte fragility]].</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Absent [[beta-lipoprotein]] is demonstrated on 2D [[electrophoresis]].(apo B (<0.1 g/L)<ref name="pmid3782476">{{cite journal| author=Lackner KJ, Monge JC, Gregg RE, Hoeg JM, Triche TJ, Law SW et al.| title=Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. | journal=J Clin Invest | year= 1986 | volume= 78 | issue= 6 | pages= 1707-12 | pmid=3782476 | doi=10.1172/JCI112766 | pmc=423946 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3782476 }} </ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Absent [[beta-lipoprotein]] is demonstrated on 2D [[electrophoresis]].(apo B (<0.1 g/L)<ref name="pmid3782476">{{cite journal| author=Lackner KJ, Monge JC, Gregg RE, Hoeg JM, Triche TJ, Law SW et al.| title=Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. | journal=J Clin Invest | year= 1986 | volume= 78 | issue= 6 | pages= 1707-12 | pmid=3782476 | doi=10.1172/JCI112766 | pmc=423946 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3782476 }} </ref></div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>*Gold standard test for diagnosing abetalipoproteinemia is [[<del style="font-weight: bold; text-decoration: none;">molecular </del>gene sequencing]] for MTTP gene.</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>*Gold standard test for diagnosing abetalipoproteinemia is <ins style="font-weight: bold; text-decoration: none;">molecular </ins>[[gene sequencing]] for MTTP gene.</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>===Approach to Low LDL C Algorithm===</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>===Approach to Low LDL C Algorithm===</div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303243&oldid=prev
Aravind Kuchkuntla: /* Approach to Low LDL C Algorithm */
2017-03-29T16:00:11Z
<p><span dir="auto"><span class="autocomment">Approach to Low LDL C Algorithm</span></span></p>
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 16:00, 29 March 2017</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l86">Line 86:</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>===Approach to Low LDL C Algorithm===</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>===Approach to Low LDL C Algorithm===</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>The following algorithm helps to diagnose patients with low LDL C:</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>The following algorithm helps to diagnose patients with low <ins style="font-weight: bold; text-decoration: none;">[[</ins>LDL<ins style="font-weight: bold; text-decoration: none;">]] </ins>C:</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree/start}}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree/start}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | A01 | | | |A01= Low [[LDL]] C <5th percentile}}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | A01 | | | |A01= Low [[LDL]] C <5th percentile}}</div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303242&oldid=prev
Aravind Kuchkuntla: /* Approach to Low LDL C Algorithm */
2017-03-29T15:59:55Z
<p><span dir="auto"><span class="autocomment">Approach to Low LDL C Algorithm</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
<col class="diff-marker" />
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:59, 29 March 2017</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l99">Line 99:</td>
<td colspan="2" class="diff-lineno">Line 99:</td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | F01 | | | | | F02| |F01= Normal [[Triglycerides]]| F02=Low [[Triglycerides]]}}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | F01 | | | | | F02| |F01= Normal [[Triglycerides]]| F02=Low [[Triglycerides]]}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | |!| | | | | | |!| | | | | | }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | |!| | | | | | |!| | | | | | }}</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | G01 | | | | | G02 | | |G01= Chlyomicron retention disease <br> <SMALL>(Confirm with gene sequencing)</SMALL>| G02=Screen the lipid profile of the patient's parents}}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | G01 | | | | | G02 | | |G01= <ins style="font-weight: bold; text-decoration: none;">[[</ins>Chlyomicron retention disease<ins style="font-weight: bold; text-decoration: none;">]] </ins><br> <SMALL>(Confirm with <ins style="font-weight: bold; text-decoration: none;">[[</ins>gene sequencing<ins style="font-weight: bold; text-decoration: none;">]]</ins>)</SMALL>| G02=Screen the <ins style="font-weight: bold; text-decoration: none;">[[</ins>lipid profile<ins style="font-weight: bold; text-decoration: none;">]] </ins>of the patient's parents}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | | | |!| | | | }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | | | |!| | | | }}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |,|-|^|-|-|.| }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |,|-|^|-|-|.| }}</div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303241&oldid=prev
Aravind Kuchkuntla: /* Approach to Low LDL C Algorithm */
2017-03-29T15:59:19Z
<p><span dir="auto"><span class="autocomment">Approach to Low LDL C Algorithm</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:59, 29 March 2017</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l99">Line 99:</td>
<td colspan="2" class="diff-lineno">Line 99:</td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | F01 | | | | | F02| |F01= Normal [[Triglycerides]]| F02=Low [[Triglycerides]]}}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | F01 | | | | | F02| |F01= Normal [[Triglycerides]]| F02=Low [[Triglycerides]]}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | |!| | | | | | |!| | | | | | }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | |!| | | | | | |!| | | | | | }}</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | G01 | | | | | G02 | | |G01= Chlyomicron retention disease <br> <SMALL>(Confirm with gene sequencing)</SMALL>| G02=Screen the <del style="font-weight: bold; text-decoration: none;">[[</del>lipid profile of the patient's parents}}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | G01 | | | | | G02 | | |G01= Chlyomicron retention disease <br> <SMALL>(Confirm with gene sequencing)</SMALL>| G02=Screen the lipid profile of the patient's parents}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | | | |!| | | | }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | | | |!| | | | }}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |,|-|^|-|-|.| }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |,|-|^|-|-|.| }}</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | H01| | |H02|H01=Normal Parental [[Lipid Profile]]|H02=If Parental [[Lipid profile]] <50% of Normal on:<br>*[[LDL]]<br>*[[Total Cholesterol]]<br>*[[Triglycerides]]}}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | H01| | |H02|H01=Normal Parental [[Lipid Profile]]|H02=If Parental [[Lipid profile]] <50% of Normal on:<br>*[[LDL]]<br>*[[Total Cholesterol]]<br>*[[Triglycerides]] }}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |!| | | | |!| }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |!| | | | |!| }}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | |I01| | |I02|I01=Abetalipoproteinemia<br><SMALL>(Confirm with [[gene sequencing]])</SMALL>|I02=[[Familial homozygous hypobetalipoproteinemia]]<br><SMALL>(Confirm with [[gene sequencing]])</SMALL>}}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | |I01| | |I02|I01=Abetalipoproteinemia<br><SMALL>(Confirm with [[gene sequencing]])</SMALL>|I02=[[Familial homozygous hypobetalipoproteinemia]]<br><SMALL>(Confirm with [[gene sequencing]])</SMALL>}}</div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303239&oldid=prev
Aravind Kuchkuntla: /* Approach to Low LDL C Algorithm */
2017-03-29T15:58:41Z
<p><span dir="auto"><span class="autocomment">Approach to Low LDL C Algorithm</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
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<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:58, 29 March 2017</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l97">Line 97:</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | |!| | | | | }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | |!| | | | | }}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | |,|-|-|-|^|-|-|.|}}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | |,|-|-|-|^|-|-|.|}}</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | |F01<del style="font-weight: bold; text-decoration: none;">| </del>| | | | | F02| |F01= Normal [[Triglycerides]]| F02=Low [[Triglycerides]]}}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | F01 | | | | | F02| |F01= Normal [[Triglycerides]]| F02=Low [[Triglycerides]]}}</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | |!<del style="font-weight: bold; text-decoration: none;">| </del>| | | | | | |!| | | | | | }}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree <ins style="font-weight: bold; text-decoration: none;">| </ins>| |!| | | | | | |!| | | | | | }}</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | G01 <del style="font-weight: bold; text-decoration: none;">| </del>| | | | | G02 <del style="font-weight: bold; text-decoration: none;">| | | | </del>| | |G01= Chlyomicron retention disease <br> <SMALL>(Confirm with gene sequencing)</SMALL>| G02=Screen the [[lipid profile of the patient's parents}}</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree <ins style="font-weight: bold; text-decoration: none;">| </ins>| G01 | | | | | G02 | | |G01= Chlyomicron retention disease <br> <SMALL>(Confirm with gene sequencing)</SMALL>| G02=Screen the [[lipid profile of the patient's parents}}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | | | |!| | | | }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | | | |!| | | | }}</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |,|-|^|-|-|.| }}</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Family tree | | | | | | | |,|-|^|-|-|.| }}</div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303237&oldid=prev
Aravind Kuchkuntla: /* Laboratory Findings */
2017-03-29T15:56:59Z
<p><span dir="auto"><span class="autocomment">Laboratory Findings</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:56, 29 March 2017</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>Laboratory findings consistent with the diagnosis of abetalipoproteinemia include :</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>Laboratory findings consistent with the diagnosis of abetalipoproteinemia include :</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>*[[Lipid profile]] after a 12 hour fast will demonstrate low [[LDL]]C less than 0.1 mmol/L and [[triglyceride]] level of <0.2 mmol/L.<ref name="pmid5245476">{{cite journal| author=Sturman RM| title=The Bassen-Kornzweig syndrome: 18 years in evolution. | journal=J Mt Sinai Hosp N Y | year= 1968 | volume= 35 | issue= 5 | pages= 489-517 | pmid=5245476 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5245476 }} </ref></div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>*[[Lipid profile]] after a 12 hour fast will demonstrate <ins style="font-weight: bold; text-decoration: none;">a </ins>low [[LDL]]C less than 0.1 mmol/L and [[triglyceride]] level of <0.2 mmol/L.<ref name="pmid5245476">{{cite journal| author=Sturman RM| title=The Bassen-Kornzweig syndrome: 18 years in evolution. | journal=J Mt Sinai Hosp N Y | year= 1968 | volume= 35 | issue= 5 | pages= 489-517 | pmid=5245476 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5245476 }} </ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Very low or undetectable [[vitamin E]] levels.</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Very low or undetectable [[vitamin E]] levels.</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Elevated [[liver function test]]s due to [[hepatic steatosis]]. </div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Elevated [[liver function test]]s due to [[hepatic steatosis]]. </div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303235&oldid=prev
Aravind Kuchkuntla: /* History and Symptoms */
2017-03-29T15:56:35Z
<p><span dir="auto"><span class="autocomment">History and Symptoms</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:56, 29 March 2017</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>===History and Symptoms===</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>===History and Symptoms===</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Patients present in [[infancy]] with symptoms of [[Chronic diarrhea resident survival guide|chronic diarrhea]], [[steatorrhea]], [[failure to thrive]].</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Patients present in [[infancy]] with symptoms of [[Chronic diarrhea resident survival guide|chronic diarrhea]], [[steatorrhea]], [[failure to thrive]].</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>*The <del style="font-weight: bold; text-decoration: none;">most serious </del>symptoms <del style="font-weight: bold; text-decoration: none;">are neurological </del>due to [[demyelination]], which begins in the first or second decade of life and include: </div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>*The <ins style="font-weight: bold; text-decoration: none;">neurological </ins>symptoms due to [[demyelination]], which begins in the first or second decade of life and include: </div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>**Progressive truncal [[ataxia]] : Presents as instability </div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>**Progressive truncal [[ataxia]] : Presents as instability </div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>**Peripheral [[neuropathy]] causing [[numbness]], [[tingling]], weakness and [[parasthesias]].<ref name="pmid14237436">{{cite journal| author=SOBREVILLA LA, GOODMAN ML, KANE CA| title=DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME). | journal=Am J Med | year= 1964 | volume= 37 | issue= | pages= 821-8 | pmid=14237436 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14237436 }} </ref> </div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>**Peripheral [[neuropathy]] causing [[numbness]], [[tingling]], weakness and [[parasthesias]].<ref name="pmid14237436">{{cite journal| author=SOBREVILLA LA, GOODMAN ML, KANE CA| title=DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME). | journal=Am J Med | year= 1964 | volume= 37 | issue= | pages= 821-8 | pmid=14237436 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14237436 }} </ref> </div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303229&oldid=prev
Aravind Kuchkuntla: /* Natural History, Complications, and Prognosis */
2017-03-29T15:51:57Z
<p><span dir="auto"><span class="autocomment">Natural History, Complications, and Prognosis</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:51, 29 March 2017</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== Natural History, Complications, and Prognosis ==</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>== Natural History, Complications, and Prognosis ==</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*If left untreated, patients can develop atypical [[retinitis pigmentosa]], severe [[ataxia]], [[dysarthria]], and absent reflexes, leading to significant neurological functional impairment and reduced lifespan.<ref name="urlOrphanet: Abetalipoproteinemia">{{cite web |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=252&Disease_Disease_Search_diseaseGroup=Abetalipoproteinemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Abetalipoproteinemia&title=Abetalipoproteinemia&search=Disease_Search_Simple |title=Orphanet: Abetalipoproteinemia |format= |work= |accessdate=}}</ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*If left untreated, patients can develop atypical [[retinitis pigmentosa]], severe [[ataxia]], [[dysarthria]], and absent reflexes, leading to significant neurological functional impairment and reduced lifespan.<ref name="urlOrphanet: Abetalipoproteinemia">{{cite web |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=252&Disease_Disease_Search_diseaseGroup=Abetalipoproteinemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Abetalipoproteinemia&title=Abetalipoproteinemia&search=Disease_Search_Simple |title=Orphanet: Abetalipoproteinemia |format= |work= |accessdate=}}</ref></div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>*Early identification and treatment with [[vitamin E]] can delay <del style="font-weight: bold; text-decoration: none;">or </del>prevent progression of the disease.<ref name="pmid11767031">{{cite journal| author=Chowers I, Banin E, Merin S, Cooper M, Granot E| title=Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. | journal=Eye (Lond) | year= 2001 | volume= 15 | issue= Pt 4 | pages= 525-30 | pmid=11767031 | doi=10.1038/eye.2001.167 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11767031 }} </ref> <ref name="pmid2981135">{{cite journal| author=Hegele RA, Angel A| title=Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. | journal=Can Med Assoc J | year= 1985 | volume= 132 | issue= 1 | pages= 41-4 | pmid=2981135 | doi= | pmc=1346503 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2981135 }} </ref></div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>*Early identification and treatment with [[vitamin E]] can delay <ins style="font-weight: bold; text-decoration: none;">and </ins>prevent progression of the disease.<ref name="pmid11767031">{{cite journal| author=Chowers I, Banin E, Merin S, Cooper M, Granot E| title=Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. | journal=Eye (Lond) | year= 2001 | volume= 15 | issue= Pt 4 | pages= 525-30 | pmid=11767031 | doi=10.1038/eye.2001.167 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11767031 }} </ref> <ref name="pmid2981135">{{cite journal| author=Hegele RA, Angel A| title=Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy. | journal=Can Med Assoc J | year= 1985 | volume= 132 | issue= 1 | pages= 41-4 | pmid=2981135 | doi= | pmc=1346503 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2981135 }} </ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*The [[prognosis]] is poor with a significantly reduced life expectancy.<ref name="urlOrphanet: Abetalipoproteinemia2">{{cite web |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=252&Disease_Disease_Search_diseaseGroup=Abetalipoproteinemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Abetalipoproteinemia&title=Abetalipoproteinemia&search=Disease_Search_Simple |title=Orphanet: Abetalipoproteinemia |format= |work= |accessdate=}}</ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*The [[prognosis]] is poor with a significantly reduced life expectancy.<ref name="urlOrphanet: Abetalipoproteinemia2">{{cite web |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=252&Disease_Disease_Search_diseaseGroup=Abetalipoproteinemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Abetalipoproteinemia&title=Abetalipoproteinemia&search=Disease_Search_Simple |title=Orphanet: Abetalipoproteinemia |format= |work= |accessdate=}}</ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303227&oldid=prev
Aravind Kuchkuntla: /* Historical Perspective */
2017-03-29T15:51:17Z
<p><span dir="auto"><span class="autocomment">Historical Perspective</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:51, 29 March 2017</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l15">Line 15:</td>
<td colspan="2" class="diff-lineno">Line 15:</td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*In 1960, Salt noticed the absence of [[serum]] beta-[[lipoprotein]] in the patient on [[electrophoresis]].<ref name="pmid13745738">{{cite journal| author=SALT HB, WOLFF OH, LLOYD JK, FOSBROOKE AS, CAMERON AH, HUBBLE DV| title=On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. | journal=Lancet | year= 1960 | volume= 2 | issue= 7146 | pages= 325-9 | pmid=13745738 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13745738 }} </ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*In 1960, Salt noticed the absence of [[serum]] beta-[[lipoprotein]] in the patient on [[electrophoresis]].<ref name="pmid13745738">{{cite journal| author=SALT HB, WOLFF OH, LLOYD JK, FOSBROOKE AS, CAMERON AH, HUBBLE DV| title=On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. | journal=Lancet | year= 1960 | volume= 2 | issue= 7146 | pages= 325-9 | pmid=13745738 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13745738 }} </ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*The biochemical defect was determined to be a complete absence of [[apolipoprotein B]]-containing [[lipoproteins]]: [[Chylomicron|chylomicrons]], very-low density lipoprotein ([[VLDL]]), and low-density lipoprotein ([[LDL]]).<ref name="pmid5245476">{{cite journal| author=Sturman RM| title=The Bassen-Kornzweig syndrome: 18 years in evolution. | journal=J Mt Sinai Hosp N Y | year= 1968 | volume= 35 | issue= 5 | pages= 489-517 | pmid=5245476 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5245476 }} </ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*The biochemical defect was determined to be a complete absence of [[apolipoprotein B]]-containing [[lipoproteins]]: [[Chylomicron|chylomicrons]], very-low density lipoprotein ([[VLDL]]), and low-density lipoprotein ([[LDL]]).<ref name="pmid5245476">{{cite journal| author=Sturman RM| title=The Bassen-Kornzweig syndrome: 18 years in evolution. | journal=J Mt Sinai Hosp N Y | year= 1968 | volume= 35 | issue= 5 | pages= 489-517 | pmid=5245476 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5245476 }} </ref></div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>* In 1986, [[apolipoprotein B]] content of the [[hepatocytes]], [[APOB]] gene and [[mRNA]] were found to be normal in patients with abetalipoproteinemia, suggesting a defective post-translational processing and secretion of apolipoprotein B as the cause of abetalipoproteinemia.<ref name="pmid3782476">{{cite journal| author=Lackner KJ, Monge JC, Gregg RE, Hoeg JM, Triche TJ, Law SW et al.| title=Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. | journal=J Clin Invest | year= 1986 | volume= 78 | issue= 6 | pages= 1707-12 | pmid=3782476 | doi=10.1172/JCI112766 | pmc=423946 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3782476 }} </ref></div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>* In 1986, [[apolipoprotein B]] content of the [[hepatocytes]], [[APOB]] gene and [[mRNA]] were found to be normal in patients with abetalipoproteinemia, suggesting a defective <ins style="font-weight: bold; text-decoration: none;">[[</ins>post-translational<ins style="font-weight: bold; text-decoration: none;">]] </ins>processing and secretion of <ins style="font-weight: bold; text-decoration: none;">[[</ins>apolipoprotein B<ins style="font-weight: bold; text-decoration: none;">]] </ins>as the cause of abetalipoproteinemia.<ref name="pmid3782476">{{cite journal| author=Lackner KJ, Monge JC, Gregg RE, Hoeg JM, Triche TJ, Law SW et al.| title=Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia. | journal=J Clin Invest | year= 1986 | volume= 78 | issue= 6 | pages= 1707-12 | pmid=3782476 | doi=10.1172/JCI112766 | pmc=423946 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3782476 }} </ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*In 1992, [[Microsomal triglyceride transfer protein deficiency|microsomal triglyceride transfer protein]] (MTP) a deficiency due to the mutation reported as the primary cause of abetalipoproteinemia.<ref name="pmid1439810">{{cite journal| author=Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M et al.| title=Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. | journal=Science | year= 1992 | volume= 258 | issue= 5084 | pages= 999-1001 | pmid=1439810 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1439810 }} </ref> </div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*In 1992, [[Microsomal triglyceride transfer protein deficiency|microsomal triglyceride transfer protein]] (MTP) a deficiency due to the mutation reported as the primary cause of abetalipoproteinemia.<ref name="pmid1439810">{{cite journal| author=Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M et al.| title=Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. | journal=Science | year= 1992 | volume= 258 | issue= 5084 | pages= 999-1001 | pmid=1439810 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1439810 }} </ref> </div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*In 1993, the region on [[chromosome]] 4q 22-24 that encodes the large sub-unit of [[MTP]] was cloned and sequenced, and various human [[MTP]] mutations in abetalipoproteinemia patients were reported.<ref name="pmid8111381">{{cite journal| author=Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT et al.| title=Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. | journal=Hum Mol Genet | year= 1993 | volume= 2 | issue= 12 | pages= 2109-16 | pmid=8111381 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8111381 }} </ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*In 1993, the region on [[chromosome]] 4q 22-24 that encodes the large sub-unit of [[MTP]] was cloned and sequenced, and various human [[MTP]] mutations in abetalipoproteinemia patients were reported.<ref name="pmid8111381">{{cite journal| author=Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT et al.| title=Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. | journal=Hum Mol Genet | year= 1993 | volume= 2 | issue= 12 | pages= 2109-16 | pmid=8111381 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8111381 }} </ref></div></td></tr>
</table>
Aravind Kuchkuntla
https://www.wikidoc.org/index.php?title=Abetalipoproteinemia&diff=1303226&oldid=prev
Aravind Kuchkuntla: /* Medical Therapy */
2017-03-29T15:50:29Z
<p><span dir="auto"><span class="autocomment">Medical Therapy</span></span></p>
<table style="background-color: #fff; color: #202122;" data-mw="interface">
<col class="diff-marker" />
<col class="diff-content" />
<col class="diff-marker" />
<col class="diff-content" />
<tr class="diff-title" lang="en">
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td>
<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:50, 29 March 2017</td>
</tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l164">Line 164:</td>
<td colspan="2" class="diff-lineno">Line 164:</td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>**Dosing and efficacy can be assessed by checking the Vitamin E levels in the [[adipose tissue]] [[Needle aspiration biopsy|needle aspiration biopsy.]]<ref name="pmid6959555">{{cite journal| author=Muller DP, Lloyd JK| title=Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. | journal=Ann N Y Acad Sci | year= 1982 | volume= 393 | issue= | pages= 133-44 | pmid=6959555 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6959555 }} </ref> <ref name="pmid19158321">{{cite journal| author=Iqbal J, Hussain MM| title=Intestinal lipid absorption. | journal=Am J Physiol Endocrinol Metab | year= 2009 | volume= 296 | issue= 6 | pages= E1183-94 | pmid=19158321 | doi=10.1152/ajpendo.90899.2008 | pmc=2692399 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19158321 }} </ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>**Dosing and efficacy can be assessed by checking the Vitamin E levels in the [[adipose tissue]] [[Needle aspiration biopsy|needle aspiration biopsy.]]<ref name="pmid6959555">{{cite journal| author=Muller DP, Lloyd JK| title=Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. | journal=Ann N Y Acad Sci | year= 1982 | volume= 393 | issue= | pages= 133-44 | pmid=6959555 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6959555 }} </ref> <ref name="pmid19158321">{{cite journal| author=Iqbal J, Hussain MM| title=Intestinal lipid absorption. | journal=Am J Physiol Endocrinol Metab | year= 2009 | volume= 296 | issue= 6 | pages= E1183-94 | pmid=19158321 | doi=10.1152/ajpendo.90899.2008 | pmc=2692399 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19158321 }} </ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* Oral supplementation of [[Vitamin A]] 100–400 IU/kg/day; [[Vitamin D]] 800–1200 IU/day; [[Vitamin K]] 5–35 mg/week.<ref name="pmid848999">{{cite journal| author=Muller DP, Lloyd JK, Bird AC| title=Long-term management of abetalipoproteinaemia. Possible role for vitamin E. | journal=Arch Dis Child | year= 1977 | volume= 52 | issue= 3 | pages= 209-14 | pmid=848999 | doi= | pmc=1546285 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=848999 }} </ref></div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* Oral supplementation of [[Vitamin A]] 100–400 IU/kg/day; [[Vitamin D]] 800–1200 IU/day; [[Vitamin K]] 5–35 mg/week.<ref name="pmid848999">{{cite journal| author=Muller DP, Lloyd JK, Bird AC| title=Long-term management of abetalipoproteinaemia. Possible role for vitamin E. | journal=Arch Dis Child | year= 1977 | volume= 52 | issue= 3 | pages= 209-14 | pmid=848999 | doi= | pmc=1546285 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=848999 }} </ref></div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>*[[Parental]] supplementation of fat soluble vitamins is <del style="font-weight: bold; text-decoration: none;">avoided </del>due to the risk of [[hepatic steatosis]].<ref name="pmid9745481">{{cite journal| author=Cavicchi M, Crenn P, Beau P, Degott C, Boutron MC, Messing B| title=Severe liver complications associated with long-term parenteral nutrition are dependent on lipid parenteral input. | journal=Transplant Proc | year= 1998 | volume= 30 | issue= 6 | pages= 2547 | pmid=9745481 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9745481 }} </ref></div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>*[[Parental]] supplementation of fat soluble vitamins is <ins style="font-weight: bold; text-decoration: none;">not preferred </ins>due to the risk of [[hepatic steatosis]].<ref name="pmid9745481">{{cite journal| author=Cavicchi M, Crenn P, Beau P, Degott C, Boutron MC, Messing B| title=Severe liver complications associated with long-term parenteral nutrition are dependent on lipid parenteral input. | journal=Transplant Proc | year= 1998 | volume= 30 | issue= 6 | pages= 2547 | pmid=9745481 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9745481 }} </ref></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Diet modification is advised for control gastrointestinal symptoms, [[low fat diet]] consisting of less than 30 % of daily requirement with reduced [[long-chain fatty acids]] and oral [[essential fatty acid]]s is recommended.</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>*Diet modification is advised for control gastrointestinal symptoms, [[low fat diet]] consisting of less than 30 % of daily requirement with reduced [[long-chain fatty acids]] and oral [[essential fatty acid]]s is recommended.</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><br/></td></tr>
</table>
Aravind Kuchkuntla