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<meta name="keywords" content="C4476709, delayed ability to stand, finding, 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="A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Delayed ability to stand (Concept Id: C4476709)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Delayed ability to stand</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370611</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)&#10;Click for more information."><span class="highlight" style="background-color:">C4476709</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0025335">HP:0025335</a></td></tr>
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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">A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<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="matched_ds"><span class="TLline">Delayed ability to stand</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/453059" ref="tree=MeSH" title="MedGen record for Neurodevelopmental disorder">Neurodevelopmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3367" ref="tree=MeSH" title="MedGen record for Developmental disorder">Developmental disorder</a></span><ul><li><span class="TLline"><a href="/medgen/98410" ref="tree=MeSH" title="MedGen record for Developmental delay">Developmental delay</a></span><ul><li><span class="TLline"><a href="/medgen/381392" ref="tree=MeSH" title="MedGen record for Motor delay">Motor delay</a></span><ul><li><span class="TLline"><a href="/medgen/332508" ref="tree=MeSH" title="MedGen record for Delayed gross motor development">Delayed gross motor development</a></span><ul><li><span class="matched_ds">Delayed ability to stand</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_96563"><div><strong>Gillespie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96563</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)&#10;Click for more information.">C0431401</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96563">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_350085"><div><strong>Spinocerebellar ataxia type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350085</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)&#10;Click for more information.">C1861732</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012).&#13; For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350085">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_924883"><div><strong>Spastic paraplegia, intellectual disability, nystagmus, and obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924883</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)&#10;Click for more information.">C4284592</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/924883">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648446"><div><strong>Neuropathy, congenital hypomyelinating, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648446</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)&#10;Click for more information.">C4722277</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996).&#13; CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008).&#13; For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648446">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1714171"><div><strong>Episodic ataxia, type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714171</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)&#10;Click for more information.">C5394520</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Episodic ataxia type 9 (EA9) is a neurologic disorder characterized by onset of ataxic episodes in the first years of life. Features may include difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The ataxic episodes vary in frequency and duration; most tend to occur every few weeks or months and last minutes to hours. Prior to the EA, most patients have neonatal- or infantile-onset tonic or generalized tonic-clonic (GTC) seizures that may be severe and refractory to medication, but remit later in infancy or early childhood, either spontaneously or concurrently with medication. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. However, others show normal psychomotor development. Treatment of the ataxic episodes with acetazolamide is effective in about 50% of patients (summary by Schwarz et al., 2019).&#13; For a phenotypic description and discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1714171">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1755743"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1755743</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)&#10;Click for more information.">C5436552</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development (MDDGB15) is characterized by elevated serum creatine kinase, developmental delay, epilepsy, impaired intellectual development, and brain abnormalities (Fu et al., 2019).&#13; For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1755743">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1782861"><div><strong>Mitochondrial complex 2 deficiency, nuclear type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782861</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)&#10;Click for more information.">C5543176</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1782861">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1786662"><div><strong>Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786662</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)&#10;Click for more information.">C5543228</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1786662">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794208"><div><strong>Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794208</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)&#10;Click for more information.">C5561998</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SIMHA syndrome is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. Inter- and intrafamilial phenotypic variability has been observed (Kambouris et al., 2014; Zahra et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794208">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic ataxia, type 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillespie syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 2 deficiency, nuclear type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1755743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786662" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, congenital hypomyelinating, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia, intellectual disability, nystagmus, and obesity</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 29</a></div></span></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/38749584">The contribution of EUS to the management of endoscopic and surgical complications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tehami N,
Kaushal K,
Maher B</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2024 Mar;69:101914.
Epub 2024 Apr 17
doi: 10.1016/j.bpg.2024.101914.
<span class="bold">PMID: </span><a href="/pubmed/38749584" target="_blank">38749584</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27191320">Neutropenic sepsis: prevention, identification and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warnock C</span><br />
<span class="medgenPMjournal">Nurs Stand</span>
2016 Apr 27;30(35):51-60.
doi: 10.7748/ns.30.35.51.s48.
<span class="bold">PMID: </span><a href="/pubmed/27191320" target="_blank">27191320</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11357235">Botulinum toxin for treatment of spasticity in adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reichel G</span><br />
<span class="medgenPMjournal">J Neurol</span>
2001 Apr;248 Suppl 1:25-7.
doi: 10.1007/pl00007814.
<span class="bold">PMID: </span><a href="/pubmed/11357235" target="_blank">11357235</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(delayed%20ability%20to%20stand)%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 (7)</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/38556893">Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schiava M,
Lofra RM,
Bourke JP,
Díaz-Manera J,
James MK,
Elseed MA,
Malinova M,
Michel-Sodhi J,
Moat D,
Ghimenton E,
Mccallum M,
Díaz CFB,
Mayhew A,
Wong K,
Richardson M,
Tasca G,
Eglon G,
Eagle M,
Turner C,
Heslop E,
Straub V,
Bettolo CM,
Guglieri M</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2024 Jun;31(6):e16267.
Epub 2024 Mar 31
doi: 10.1111/ene.16267.
<span class="bold">PMID: </span><a href="/pubmed/38556893" target="_blank">38556893</a><a href="/pmc/articles/PMC11236054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38007663">Transcranial Direct Current Stimulation Intervention in Alzheimer's Disease and Its Follow-Up.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Meléndez JC,
Satorres E,
Pitarque A,
Escudero J,
Delhom I,
Navarro-Prados AB</span><br />
<span class="medgenPMjournal">J Alzheimers Dis</span>
2023;96(4):1685-1693.
doi: 10.3233/JAD-230826.
<span class="bold">PMID: </span><a href="/pubmed/38007663" target="_blank">38007663</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35009886">Head-Mounted and Hand-Held Displays Diminish the Effectiveness of Fall-Resisting Skills.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weber A,
Werth J,
Epro G,
Friemert D,
Hartmann U,
Lambrianides Y,
Seeley J,
Nickel P,
Karamanidis K</span><br />
<span class="medgenPMjournal">Sensors (Basel)</span>
2022 Jan 4;22(1)
doi: 10.3390/s22010344.
<span class="bold">PMID: </span><a href="/pubmed/35009886" target="_blank">35009886</a><a href="/pmc/articles/PMC8749840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27191320">Neutropenic sepsis: prevention, identification and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warnock C</span><br />
<span class="medgenPMjournal">Nurs Stand</span>
2016 Apr 27;30(35):51-60.
doi: 10.7748/ns.30.35.51.s48.
<span class="bold">PMID: </span><a href="/pubmed/27191320" target="_blank">27191320</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26132100">Delays in Motor Development in Children with Down Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Malak R,
Kostiukow A,
Krawczyk-Wasielewska A,
Mojs E,
Samborski W</span><br />
<span class="medgenPMjournal">Med Sci Monit</span>
2015 Jul 1;21:1904-10.
doi: 10.12659/MSM.893377.
<span class="bold">PMID: </span><a href="/pubmed/26132100" target="_blank">26132100</a><a href="/pmc/articles/PMC4500597" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ability%20to%20stand%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 (67)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38749584">The contribution of EUS to the management of endoscopic and surgical complications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tehami N,
Kaushal K,
Maher B</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2024 Mar;69:101914.
Epub 2024 Apr 17
doi: 10.1016/j.bpg.2024.101914.
<span class="bold">PMID: </span><a href="/pubmed/38749584" target="_blank">38749584</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37716390">Multifunctional and theranostic hydrogels for wound healing acceleration: An emphasis on diabetic-related chronic wounds.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tehrany PM,
Rahmanian P,
Rezaee A,
Ranjbarpazuki G,
Sohrabi Fard F,
Asadollah Salmanpour Y,
Zandieh MA,
Ranjbarpazuki A,
Asghari S,
Javani N,
Nabavi N,
Aref AR,
Hashemi M,
Rashidi M,
Taheriazam A,
Motahari A,
Hushmandi K</span><br />
<span class="medgenPMjournal">Environ Res</span>
2023 Dec 1;238(Pt 1):117087.
Epub 2023 Sep 15
doi: 10.1016/j.envres.2023.117087.
<span class="bold">PMID: </span><a href="/pubmed/37716390" target="_blank">37716390</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27469578">Usefulness of blood and cerebrospinal fluid laboratory testing to predict bacterial meningitis in the emergency department.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Julián-Jiménez A,
Morales-Casado MI</span><br />
<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
2019 Mar;34(2):105-113.
Epub 2016 Jul 26
doi: 10.1016/j.nrl.2016.05.009.
<span class="bold">PMID: </span><a href="/pubmed/27469578" target="_blank">27469578</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29884294">Personal health records, global policy and regulation review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flaumenhaft Y,
Ben-Assuli O</span><br />
<span class="medgenPMjournal">Health Policy</span>
2018 Aug;122(8):815-826.
Epub 2018 May 14
doi: 10.1016/j.healthpol.2018.05.002.
<span class="bold">PMID: </span><a href="/pubmed/29884294" target="_blank">29884294</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20609093">Review: neutrophil gelatinase-associated lipocalin: a troponin-like biomarker for human acute kidney injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Devarajan P</span><br />
<span class="medgenPMjournal">Nephrology (Carlton)</span>
2010 Jun;15(4):419-28.
doi: 10.1111/j.1440-1797.2010.01317.x.
<span class="bold">PMID: </span><a href="/pubmed/20609093" target="_blank">20609093</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ability%20to%20stand%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 (48)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39098305">Photoswitchable dynamics and RNAi synergist with tailored interface and controlled release reprogramming tumor immunosuppressive niche.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong H,
Song Z,
Wang T,
Huang K,
Yu F,
Sun W,
Liu X,
Liu L,
Jiang H,
Wang X</span><br />
<span class="medgenPMjournal">Biomaterials</span>
2025 Jan;312:122712.
Epub 2024 Jul 31
doi: 10.1016/j.biomaterials.2024.122712.
<span class="bold">PMID: </span><a href="/pubmed/39098305" target="_blank">39098305</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38749584">The contribution of EUS to the management of endoscopic and surgical complications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tehami N,
Kaushal K,
Maher B</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2024 Mar;69:101914.
Epub 2024 Apr 17
doi: 10.1016/j.bpg.2024.101914.
<span class="bold">PMID: </span><a href="/pubmed/38749584" target="_blank">38749584</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38556893">Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schiava M,
Lofra RM,
Bourke JP,
Díaz-Manera J,
James MK,
Elseed MA,
Malinova M,
Michel-Sodhi J,
Moat D,
Ghimenton E,
Mccallum M,
Díaz CFB,
Mayhew A,
Wong K,
Richardson M,
Tasca G,
Eglon G,
Eagle M,
Turner C,
Heslop E,
Straub V,
Bettolo CM,
Guglieri M</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2024 Jun;31(6):e16267.
Epub 2024 Mar 31
doi: 10.1111/ene.16267.
<span class="bold">PMID: </span><a href="/pubmed/38556893" target="_blank">38556893</a><a href="/pmc/articles/PMC11236054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25982818">Stabilization of proteins in solid form.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cicerone MT,
Pikal MJ,
Qian KK</span><br />
<span class="medgenPMjournal">Adv Drug Deliv Rev</span>
2015 Oct 1;93:14-24.
Epub 2015 May 14
doi: 10.1016/j.addr.2015.05.006.
<span class="bold">PMID: </span><a href="/pubmed/25982818" target="_blank">25982818</a><a href="/pmc/articles/PMC4623959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9496311">Reappraising the prehospital care of the patient with major trauma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pepe PE,
Eckstein M</span><br />
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
1998 Feb;16(1):1-15.
doi: 10.1016/s0733-8627(05)70345-x.
<span class="bold">PMID: </span><a href="/pubmed/9496311" target="_blank">9496311</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Delayed%20ability%20to%20stand%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38556893">Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schiava M,
Lofra RM,
Bourke JP,
Díaz-Manera J,
James MK,
Elseed MA,
Malinova M,
Michel-Sodhi J,
Moat D,
Ghimenton E,
Mccallum M,
Díaz CFB,
Mayhew A,
Wong K,
Richardson M,
Tasca G,
Eglon G,
Eagle M,
Turner C,
Heslop E,
Straub V,
Bettolo CM,
Guglieri M</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2024 Jun;31(6):e16267.
Epub 2024 Mar 31
doi: 10.1111/ene.16267.
<span class="bold">PMID: </span><a href="/pubmed/38556893" target="_blank">38556893</a><a href="/pmc/articles/PMC11236054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34374648">Learning to stand with unexpected sensorimotor delays.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rasman BG,
Forbes PA,
Peters RM,
Ortiz O,
Franks I,
Inglis JT,
Chua R,
Blouin JS</span><br />
<span class="medgenPMjournal">Elife</span>
2021 Aug 10;10
doi: 10.7554/eLife.65085.
<span class="bold">PMID: </span><a href="/pubmed/34374648" target="_blank">34374648</a><a href="/pmc/articles/PMC8480973" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27469578">Usefulness of blood and cerebrospinal fluid laboratory testing to predict bacterial meningitis in the emergency department.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Julián-Jiménez A,
Morales-Casado MI</span><br />
<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
2019 Mar;34(2):105-113.
Epub 2016 Jul 26
doi: 10.1016/j.nrl.2016.05.009.
<span class="bold">PMID: </span><a href="/pubmed/27469578" target="_blank">27469578</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26248129">Infant formula and neurocognitive outcomes: impact of study end-point selection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sun H,
Como PG,
Downey LC,
Murphy D,
Ariagno RL,
Rodriguez W</span><br />
<span class="medgenPMjournal">J Perinatol</span>
2015 Oct;35(10):867-74.
Epub 2015 Aug 6
doi: 10.1038/jp.2015.87.
<span class="bold">PMID: </span><a href="/pubmed/26248129" target="_blank">26248129</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25982818">Stabilization of proteins in solid form.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cicerone MT,
Pikal MJ,
Qian KK</span><br />
<span class="medgenPMjournal">Adv Drug Deliv Rev</span>
2015 Oct 1;93:14-24.
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doi: 10.1016/j.addr.2015.05.006.
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Ghimenton E,
Mccallum M,
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Mayhew A,
Wong K,
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2024 Jun;31(6):e16267.
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<div class="portlet_content ln"><span class="medgenPMauthor">Julián-Jiménez A,
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2019 Mar;34(2):105-113.
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doi: 10.1016/j.nrl.2016.05.009.
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<div class="nl"><a target="_blank" href="/pubmed/26248129">Infant formula and neurocognitive outcomes: impact of study end-point selection.</a></div>
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2015 Oct;35(10):867-74.
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<span class="medgenPMjournal">Med Sci Monit</span>
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