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<meta name="keywords" content="C5542197, actg2, disease or syndrome, infantile visceral myopathy, megaduodenum and/or megacystis, pseudoobstruction idiopathic intestinal, pseudoobstruction, idiopathic intestinal, visceral myopathy, visceral myopathy 1, vscm, vscm1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1785391
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||
ConceptID=C5542197
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Visceral myopathy 1<span class="h1sub">(VSCM1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785391</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5542197</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Infantile visceral myopathy; Megaduodenum and/or megacystis; Pseudoobstruction idiopathic intestinal; Visceral myopathy; VSCM1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ACTG2 - ID: 72 - NCBI Gene" href="/gene/72" class="medgenPMinfo">ACTG2</a> (2p13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020754" target="_blank">MONDO:0020754</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/155310" target="_blank">155310</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Familial visceral myopathy (VSCM) is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).
|
||
Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320).
|
||
Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629).
|
||
Genetic Heterogeneity of Visceral Myopathy
|
||
VSCM2 (619350) is caused by mutation in the MYH11 gene (160745) on chromosome 16p13. <a target="_blank" href="http://www.omim.org/entry/155310">http://www.omim.org/entry/155310</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0000737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42531"><div><strong>Hydronephrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42531</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe distention of the kidney with dilation of the renal pelvis and calices.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42531">Feature record</a> | <a href="/medgen?term=%22Hydronephrosis%22%5BClinical%20Features%5D%20OR%2042531%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21852"><div><strong>Vesicoureteral reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21852</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21852">Feature record</a> | <a href="/medgen?term=%22Vesicoureteral%20reflux%22%5BClinical%20Features%5D%20OR%2021852%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_38289"><div><strong>Urinary retention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38289</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0080274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Functional Concept</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to completely empty the urinary bladder during the process of urination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Urinary%20retention%22%5BClinical%20Features%5D%20OR%2038289%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343318"><div><strong>Megacystis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilatation of the bladder postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343318">Feature record</a> | <a href="/medgen?term=%22Megacystis%22%5BClinical%20Features%5D%20OR%20343318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_34"><div><strong>Abdominal distention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>34</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0000731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distention of the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/34">Feature record</a> | <a href="/medgen?term=%22Abdominal%20distention%22%5BClinical%20Features%5D%20OR%2034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5559"><div><strong>Aganglionic megacolon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5559</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5559">Feature record</a> | <a href="/medgen?term=%22Aganglionic%20megacolon%22%5BClinical%20Features%5D%20OR%205559%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5864"><div><strong>Intestinal pseudo-obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5864</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0021847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5864">Feature record</a> | <a href="/medgen?term=%22Intestinal%20pseudo-obstruction%22%5BClinical%20Features%5D%20OR%205864%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101809"><div><strong>Gastroparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101809</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101809">Feature record</a> | <a href="/medgen?term=%22Gastroparesis%22%5BClinical%20Features%5D%20OR%20101809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56429"><div><strong>Malnutrition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56429</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency in the intake of energy and nutrients.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56429">Feature record</a> | <a href="/medgen?term=%22Malnutrition%22%5BClinical%20Features%5D%20OR%2056429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75604"><div><strong>Megaduodenum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75604</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0266177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75604">Feature record</a> | <a href="/medgen?term=%22Megaduodenum%22%5BClinical%20Features%5D%20OR%2075604%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82734"><div><strong>Microcolon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82734</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0266200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A colon of abnormally small caliber.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82734">Feature record</a> | <a href="/medgen?term=%22Microcolon%22%5BClinical%20Features%5D%20OR%2082734%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_860148"><div><strong>Thinning of outer muscular layer of small bowel</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860148</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4011711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The depth of the outer muscular layer of the small bowel is below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/860148">Feature record</a> | <a href="/medgen?term=%22Thinning%20of%20outer%20muscular%20layer%20of%20small%20bowel%22%5BClinical%20Features%5D%20OR%20860148%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14586"><div><strong>Pancreatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0030305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of inflammation in the pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14586">Feature record</a> | <a href="/medgen?term=%22Pancreatitis%22%5BClinical%20Features%5D%20OR%2014586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_34" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal distention</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aganglionic megacolon</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroparesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5864" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal pseudo-obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malnutrition</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaduodenum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcolon</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_860148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thinning of outer muscular layer of small bowel</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydronephrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megacystis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary retention</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatitis</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1608393[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=296125">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=296125" target="_blank" href="/omim/249210">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK540960/" ref="ncbi_uid=296125">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=296125" ref="ncbi_uid=296125">V</a></span></span><span class="TLline"><a href="/medgen/296125" ref="tree=GTR&ncbi_uid=296125&link_uid=296125" title="View MedGen record for 'Megacystis, microcolon, hypoperistalsis syndrome'">Megacystis, microcolon, hypoperistalsis syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/120590" ref="tree=GTR&ncbi_uid=120590&link_uid=120590" title="View MedGen record for 'Hereditary hollow viscus myopathy'">Hereditary hollow viscus myopathy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5542197[DISCUI]&test_type=Clinical" ref="ncbi_uid=1785391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1785391" target="_blank" href="/omim/102545">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK299311%20OR%20NBK540960)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1785391">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1785391" ref="ncbi_uid=1785391">V</a></span></span><span class="TLline">Visceral myopathy 1</span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/354119" ref="tree=MeSH" title="MedGen record for Rare Non-Neoplastic Disorder">Rare Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/296125" ref="tree=MeSH" title="MedGen record for Megacystis, microcolon, hypoperistalsis syndrome">Megacystis, microcolon, hypoperistalsis syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/120590" ref="tree=MeSH" title="MedGen record for Hereditary hollow viscus myopathy">Hereditary hollow viscus myopathy</a></span><ul><li><span class="matched_ds">Visceral myopathy 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28837505">Diagnostic Criteria of Pediatric Intestinal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lombardi L,
|
||
Bruder E,
|
||
Pio L,
|
||
Nozza P,
|
||
Thai E,
|
||
Lerone M,
|
||
Del Rossi C,
|
||
Mattioli G,
|
||
Silini EM,
|
||
Paraboschi I,
|
||
Martucciello G</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2018 Mar;66(3):383-386.
|
||
doi: 10.1097/MPG.0000000000001727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28837505" target="_blank">28837505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27913002">Clinical Evaluation and Management of Radiation Fibrosis Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stubblefield MD</span><br />
|
||
<span class="medgenPMjournal">Phys Med Rehabil Clin N Am</span>
|
||
2017 Feb;28(1):89-100.
|
||
doi: 10.1016/j.pmr.2016.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27913002" target="_blank">27913002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9093995">Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of consensus workshop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudolph CD,
|
||
Hyman PE,
|
||
Altschuler SM,
|
||
Christensen J,
|
||
Colletti RB,
|
||
Cucchiara S,
|
||
Di Lorenzo C,
|
||
Flores AF,
|
||
Hillemeier AC,
|
||
McCallum RW,
|
||
Vanderhoof JA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
1997 Jan;24(1):102-12.
|
||
doi: 10.1097/00005176-199701000-00021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9093995" target="_blank">9093995</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(visceral%20myopathy%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (39)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35482095">Paediatric intestinal pseudo-obstruction: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nham S,
|
||
Nguyen ATM,
|
||
Holland AJA</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2022 Jul;181(7):2619-2632.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1007/s00431-021-04365-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35482095" target="_blank">35482095</a><a href="/pmc/articles/PMC9192403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34826255">Multisystem Imaging Manifestations of Kawasaki Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsujioka Y,
|
||
Handa A,
|
||
Nishimura G,
|
||
Miura M,
|
||
Yokoyama K,
|
||
Sato K,
|
||
Handa H,
|
||
Jinzaki M,
|
||
Nosaka S,
|
||
Kono T</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2022 Jan-Feb;42(1):268-288.
|
||
Epub 2021 Nov 26
|
||
doi: 10.1148/rg.210070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34826255" target="_blank">34826255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29149920">Gastrointestinal and Hepatic Disease in the Inflammatory Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gadiparthi C,
|
||
Hans A,
|
||
Potts K,
|
||
Ismail MK</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2018 Feb;44(1):113-129.
|
||
doi: 10.1016/j.rdc.2017.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29149920" target="_blank">29149920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11370333">Neonatal intestinal obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasir GA,
|
||
Rahma S,
|
||
Kadim AH</span><br />
|
||
<span class="medgenPMjournal">East Mediterr Health J</span>
|
||
2000 Jan;6(1):187-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11370333" target="_blank">11370333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8995957">Hereditary megaduodenum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basilisco G</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1997 Jan;92(1):150-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8995957" target="_blank">8995957</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Visceral%20myopathy%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (307)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37994282">Chronic intestinal pseudo-obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basilisco G,
|
||
Marchi M,
|
||
Coletta M</span><br />
|
||
<span class="medgenPMjournal">Neurogastroenterol Motil</span>
|
||
2024 Jan;36(1):e14715.
|
||
Epub 2023 Nov 22
|
||
doi: 10.1111/nmo.14715.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994282" target="_blank">37994282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35482095">Paediatric intestinal pseudo-obstruction: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nham S,
|
||
Nguyen ATM,
|
||
Holland AJA</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2022 Jul;181(7):2619-2632.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1007/s00431-021-04365-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35482095" target="_blank">35482095</a><a href="/pmc/articles/PMC9192403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29149925">Gastrointestinal and Hepatic Disease in Systemic Lupus Erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brewer BN,
|
||
Kamen DL</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2018 Feb;44(1):165-175.
|
||
doi: 10.1016/j.rdc.2017.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29149925" target="_blank">29149925</a><a href="/pmc/articles/PMC5796428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20123274">Diagnosis and management of intestinal motility disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Lorenzo C,
|
||
Youssef NN</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2010 Feb;19(1):50-8.
|
||
doi: 10.1053/j.sempedsurg.2009.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20123274" target="_blank">20123274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3285765">Intestinal pseudo-obstruction syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anuras S</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
1988;39:1-15.
|
||
doi: 10.1146/annurev.me.39.020188.000245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3285765" target="_blank">3285765</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Visceral%20myopathy%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (371)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37973225">Endoscopic Management of Colonic Obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aboelezz AF,
|
||
Othman MO</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
|
||
2024 Jan;34(1):141-153.
|
||
Epub 2023 Oct 13
|
||
doi: 10.1016/j.giec.2023.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37973225" target="_blank">37973225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35482095">Paediatric intestinal pseudo-obstruction: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nham S,
|
||
Nguyen ATM,
|
||
Holland AJA</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2022 Jul;181(7):2619-2632.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1007/s00431-021-04365-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35482095" target="_blank">35482095</a><a href="/pmc/articles/PMC9192403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29413013">Nutritional Interventions in Chronic Intestinal Pseudoobstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirby DF,
|
||
Raheem SA,
|
||
Corrigan ML</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2018 Mar;47(1):209-218.
|
||
Epub 2017 Dec 6
|
||
doi: 10.1016/j.gtc.2017.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29413013" target="_blank">29413013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27174045">Prucalopride: For functional constipation only?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellini M,
|
||
Gambaccini D,
|
||
Bassotti G</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2016 Jul;20(7):433-6.
|
||
Epub 2016 May 12
|
||
doi: 10.1007/s10151-016-1477-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27174045" target="_blank">27174045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1346601">Ogilvie's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamed AD,
|
||
Dare FO</span><br />
|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
1992 Jan;37(1):47-50.
|
||
doi: 10.1016/0020-7292(92)90977-q.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1346601" target="_blank">1346601</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Visceral%20myopathy%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (250)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37994282">Chronic intestinal pseudo-obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Basilisco G,
|
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Marchi M,
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Coletta M</span><br />
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<span class="medgenPMjournal">Neurogastroenterol Motil</span>
|
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2024 Jan;36(1):e14715.
|
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Epub 2023 Nov 22
|
||
doi: 10.1111/nmo.14715.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37994282" target="_blank">37994282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31859206">The Use of Coffee to Decrease the Incidence of Postoperative Ileus: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kane TD,
|
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Tubog TD,
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Schmidt JR</span><br />
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<span class="medgenPMjournal">J Perianesth Nurs</span>
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||
2020 Apr;35(2):171-177.e1.
|
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Epub 2019 Dec 16
|
||
doi: 10.1016/j.jopan.2019.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31859206" target="_blank">31859206</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30592523">Pseudo-obstruction But a Real Perforation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">AORN J</span>
|
||
2019 Jan;109(1):142-144.
|
||
doi: 10.1002/aorn.12442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30592523" target="_blank">30592523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11370333">Neonatal intestinal obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasir GA,
|
||
Rahma S,
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Kadim AH</span><br />
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<span class="medgenPMjournal">East Mediterr Health J</span>
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2000 Jan;6(1):187-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11370333" target="_blank">11370333</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/8995957">Hereditary megaduodenum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basilisco G</span><br />
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<span class="medgenPMjournal">Am J Gastroenterol</span>
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1997 Jan;92(1):150-3.
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<span class="bold">PMID: </span><a href="/pubmed/8995957" target="_blank">8995957</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Visceral%20myopathy%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (201)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39461088">Systematic review of treatments for the gastrointestinal manifestations of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson L,
|
||
Hao Y,
|
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Basnayake C,
|
||
Oon S,
|
||
Nikpour M</span><br />
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||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2024 Dec;69:152567.
|
||
Epub 2024 Oct 28
|
||
doi: 10.1016/j.semarthrit.2024.152567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39461088" target="_blank">39461088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31516082">The expanding phenotypes of cohesinopathies: one ring to rule them all!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piché J,
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Van Vliet PP,
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||
Pucéat M,
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Andelfinger G</span><br />
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<span class="medgenPMjournal">Cell Cycle</span>
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||
2019 Nov;18(21):2828-2848.
|
||
Epub 2019 Sep 13
|
||
doi: 10.1080/15384101.2019.1658476.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31516082" target="_blank">31516082</a><a href="/pmc/articles/PMC6791706" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28730326">Infectious diseases causing autonomic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carod-Artal FJ</span><br />
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<span class="medgenPMjournal">Clin Auton Res</span>
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||
2018 Feb;28(1):67-81.
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Epub 2017 Jul 20
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doi: 10.1007/s10286-017-0452-4.
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<span class="bold">PMID: </span><a href="/pubmed/28730326" target="_blank">28730326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15607208">A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gamez J,
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Lara MC,
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Mearin F,
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Oliveras-Ley C,
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Raguer N,
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Olive M,
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Leist AT,
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Perello A,
|
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Perona M,
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||
Cervera C,
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Andreu AL,
|
||
Martí R,
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Hirano M</span><br />
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<span class="medgenPMjournal">J Neurol Sci</span>
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2005 Jan 15;228(1):35-9.
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Epub 2004 Nov 12
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doi: 10.1016/j.jns.2004.09.034.
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||
<span class="bold">PMID: </span><a href="/pubmed/15607208" target="_blank">15607208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8995957">Hereditary megaduodenum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basilisco G</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1997 Jan;92(1):150-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8995957" target="_blank">8995957</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Visceral%20myopathy%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (164)</a></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39461088">Systematic review of treatments for the gastrointestinal manifestations of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson L,
|
||
Hao Y,
|
||
Basnayake C,
|
||
Oon S,
|
||
Nikpour M</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2024 Dec;69:152567.
|
||
Epub 2024 Oct 28
|
||
doi: 10.1016/j.semarthrit.2024.152567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39461088" target="_blank">39461088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38526522">Pharmacologic prevention and therapy of postoperative paralytic ileus after gastrointestinal cancer surgery: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reichert M,
|
||
Willis F,
|
||
Post S,
|
||
Schneider M,
|
||
Vilz T,
|
||
Willis M,
|
||
Hecker A</span><br />
|
||
<span class="medgenPMjournal">Int J Surg</span>
|
||
2024 Jul 1;110(7):4329-4341.
|
||
doi: 10.1097/JS9.0000000000001393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38526522" target="_blank">38526522</a><a href="/pmc/articles/PMC11254286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35863181">Varicella-zoster virus infection and autonomic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakakibara R,
|
||
Sawai S,
|
||
Ogata T</span><br />
|
||
<span class="medgenPMjournal">Auton Neurosci</span>
|
||
2022 Nov;242:103018.
|
||
Epub 2022 Jul 8
|
||
doi: 10.1016/j.autneu.2022.103018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35863181" target="_blank">35863181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30636241">Effect of Caffeine Intake on Postoperative Ileus: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gkegkes ID,
|
||
Minis EE,
|
||
Iavazzo C</span><br />
|
||
<span class="medgenPMjournal">Dig Surg</span>
|
||
2020;37(1):22-31.
|
||
Epub 2019 Jan 11
|
||
doi: 10.1159/000496431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30636241" target="_blank">30636241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27174045">Prucalopride: For functional constipation only?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellini M,
|
||
Gambaccini D,
|
||
Bassotti G</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2016 Jul;20(7):433-6.
|
||
Epub 2016 May 12
|
||
doi: 10.1007/s10151-016-1477-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27174045" target="_blank">27174045</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Visceral%20myopathy%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5542197%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C5542197%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
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<li><a href="/gtr/tests?term=C5542197%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5542197%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(visceral%20myopathy%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=102545" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=72[geneid]" target="_blank">View ACTG2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=155310" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Megaduodenum+and-or+megacystis/4557" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/visceral_myopathy_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Visceral%20myopathy%201" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/26072522" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/31070878" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Visceral%20myopathy%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Visceral%20myopathy%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
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||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1785391" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1785391" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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||
</li>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5542197[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C5542197[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1785391" ref="log$=recordlinks">OMIM</a>
|
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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||
</li>
|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1785391" ref="log$=recordlinks">OMIM(Genes)</a>
|
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1785391" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1785391" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1785391" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1785391" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1785391" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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Turn Off
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Turn On
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb61e1a68b6b5afcc3af61">Visceral myopathy 1</a>
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<div class="ralinkpop offscreen_noflow">Visceral myopathy 1<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb61dfb15b832ebc540e45">C5542197[conceptid] <span class="number">(1)</span></a>
|
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb61dfa68b6b5afcc3a49c">C3178805[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(29)</span></a>
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<div class="ralinkpop offscreen_noflow">C3178805[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb61de84f3725e59853ca2">C1970483[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(153)</span></a>
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<div class="ralinkpop offscreen_noflow">C1970483[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
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<div class="tertiary">ClinVar</div>
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</li>
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<li class="ra_rcd ralinkpopper two_line">
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb61dd84f3725e598531de">Vesicoureteral reflux 2</a>
|
||
<div class="ralinkpop offscreen_noflow">Vesicoureteral reflux 2<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
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</li>
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</ul>
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<p class="HTOn">Your browsing activity is empty.</p>
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<p class="HTOff">Activity recording is turned off.</p>
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<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
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