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<meta name="keywords" content="C0241237, difficulty in standing, difficulty standing, dysstasia, sign or symptom, standing instability, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=69136
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ConceptID=C0241237
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Difficulty standing</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69136</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:">C0241237</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Difficulty in standing</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Dysstasia (249902000); Difficulty standing (249902000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003698">HP:0003698</a></td></tr>
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<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">Difficulty standing</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/870898" ref="tree=MeSH" title="MedGen record for Functional motor deficit">Functional motor deficit</a></span><ul><li><span class="matched_ds">Difficulty standing</span></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">
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<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>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_124344"><div><strong>Vitamin D-dependent rickets, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124344</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.">C0268689</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124344">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90989"><div><strong>Vitamin D-dependent rickets type II with alopecia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90989</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.">C0342646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90989">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163229"><div><strong>X-linked progressive cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163229</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.">C0796205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar Ataxia X-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (302600), SCAX3 (301790), SCAX4 (301840), and SCAX5 (300703). SCAX6 (301310) is caused by mutation in the ABCB7 gene (300135).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163229">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374020"><div><strong>Vitamin D hydroxylation-deficient rickets, type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374020</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.">C1838657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation (Molin et al., 2017). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by Liberman and Marx, 2001). Rickets can occur because of inadequate dietary intake or sun exposure or because of genetic disorders. Vitamin D3 (cholecalciferol) is taken in the diet or synthesized in the skin from 7-dehydrocholesterol by ultraviolet irradiation. For vitamin D to be active, it needs to be converted to its active form, 1,25-dihydroxyvitamin D3. Vitamin D is transported in the blood by the vitamin D binding protein (DBP; 139200) to the liver, where vitamin D 25-hydroxylase (CYP2R1; 608713) is the key enzyme for 25-hydroxylation. Vitamin D 25(OH)D3, the major circulating form of vitamin D, is then transported to the kidney, where 25(OH)D3 is hydroxylated at the position of carbon 1 of the A ring, resulting in the active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) (summary by Christakos et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334784"><div><strong>Hereditary spastic paraplegia 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334784</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.">C1843569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501133"><div><strong>Autosomal recessive hypophosphatemic bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501133</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.">C1853271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501133">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) 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). 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_1717271"><div><strong>Diabetes mellitus, permanent neonatal 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717271</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.">C5394303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to age 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and history of intrauterine growth deficiency. Therapy with insulin and/or oral hypoglycemic medications (in some molecular causes of PNDM) can correct the hyperglycemia and result in dramatic catch-up growth. The course of PNDM varies by genotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717271">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799164"><div><strong>Combined oxidative phosphorylation defect type 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799164</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.">C5567741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) is an autosomal recessive multisystemic disorder with highly variable manifestations, even within the same family. Some patients present in infancy with hypotonia and global developmental delay with poor or absent motor skill acquisition and poor growth, whereas others present as young adults with exercise intolerance and muscle weakness. All patients have signs of a peripheral neuropathy, usually demyelinating, with distal muscle weakness and atrophy and distal sensory impairment; many become wheelchair-bound. Additional features include spasticity, extensor plantar responses, contractures, cerebellar signs, seizures, short stature, and rare involvement of other organ systems, including the heart, pancreas, and kidney. Biochemical analysis may show deficiencies in mitochondrial respiratory complex enzyme activities in patient tissue, although this is not always apparent. Lactate is frequently increased, suggesting mitochondrial dysfunction (Powell et al., 2015; Argente-Escrig et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799164">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841278"><div><strong>Amyotrophic lateral sclerosis 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841278</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.">C5830642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amyotrophic lateral sclerosis-28 (ALS28) is an autosomal dominant neurodegenerative disorder characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. EMG and muscle biopsy show active and chronic denervation. Patient-derived motor neurons show accumulation of TDP43 (605078) and toxic intranuclear RNA accumulation (Kume et al., 2023). For discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841278">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive hypophosphatemic bone disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 26</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1717271" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus, permanent neonatal 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 24</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D hydroxylation-deficient rickets, type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets type II with alopecia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin D-dependent rickets, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked progressive cerebellar ataxia</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/23027502">Vertebral osteomyelitis complicated by iliopsoas muscle abscess in an immunocompetent adolescent: successful conservative treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu SY,
|
||
Wei TS,
|
||
Chen YC,
|
||
Huang SW</span><br />
|
||
<span class="medgenPMjournal">Orthopedics</span>
|
||
2012 Oct;35(10):e1576-80.
|
||
doi: 10.3928/01477447-20120919-34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23027502" target="_blank">23027502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22difficulty%20standing%22%5Btiab%3A~0%5D)%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 (1)</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/35034162">Association between back and neck pain and workplace absenteeism in the USA: the role played by walking, standing, and sitting difficulties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacob L,
|
||
López-Sánchez GF,
|
||
Oh H,
|
||
Grabovac I,
|
||
Stefanac S,
|
||
Shin JI,
|
||
Tully MA,
|
||
López-Bueno R,
|
||
Koyanagi A,
|
||
Barnett Y,
|
||
Haro JM,
|
||
Smith L</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2022 Apr;31(4):926-934.
|
||
Epub 2022 Jan 16
|
||
doi: 10.1007/s00586-021-07084-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35034162" target="_blank">35034162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27803343">Knee Pain Predicts Subsequent Shoulder Pain and the Association Is Mediated by Leg Weakness: Longitudinal Observational Data from the Osteoarthritis Initiative.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laslett LL,
|
||
Otahal P,
|
||
Hensor EM,
|
||
Kingsbury SR,
|
||
Conaghan PG</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2016 Nov;43(11):2049-2055.
|
||
Epub 2016 Oct 1
|
||
doi: 10.3899/jrheum.160001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27803343" target="_blank">27803343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27053307">Low Back Pain and Everyday Functioning of Students.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kędra A,
|
||
Kolwicz-Gańko A,
|
||
Sitarski D,
|
||
Ewertowska P,
|
||
Czaprowski D</span><br />
|
||
<span class="medgenPMjournal">Ortop Traumatol Rehabil</span>
|
||
2016 Jan-Feb;18(1):31-9.
|
||
doi: 10.5604/15093492.1198840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27053307" target="_blank">27053307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12634016">Methods to assess and improve the physical parameters associated with fall risk in older adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers ME,
|
||
Rogers NL,
|
||
Takeshima N,
|
||
Islam MM</span><br />
|
||
<span class="medgenPMjournal">Prev Med</span>
|
||
2003 Mar;36(3):255-64.
|
||
doi: 10.1016/s0091-7435(02)00028-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12634016" target="_blank">12634016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9929676">Age-related changes in the prevalence of smell/taste problems among the United States adult population. Results of the 1994 disability supplement to the National Health Interview Survey (NHIS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman HJ,
|
||
Ishii EK,
|
||
MacTurk RH</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
1998 Nov 30;855:716-22.
|
||
doi: 10.1111/j.1749-6632.1998.tb10650.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9929676" target="_blank">9929676</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Difficulty%20standing%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 (22)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35081667">Living with heart failure: patient experiences and implications for physical activity and daily living.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niklasson A,
|
||
Maher J,
|
||
Patil R,
|
||
Sillén H,
|
||
Chen J,
|
||
Gwaltney C,
|
||
Rydén A</span><br />
|
||
<span class="medgenPMjournal">ESC Heart Fail</span>
|
||
2022 Apr;9(2):1206-1215.
|
||
Epub 2022 Jan 26
|
||
doi: 10.1002/ehf2.13795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35081667" target="_blank">35081667</a><a href="/pmc/articles/PMC8934912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31871337">Reconstruction of Complete Peroneus Longus and Brevis Tendon Ruptures Using a Semitendinosus and Gracilis Tendon Graft.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morimoto Y,
|
||
Tokuhashi Y</span><br />
|
||
<span class="medgenPMjournal">Acta Med Okayama</span>
|
||
2019 Dec;73(6):533-536.
|
||
doi: 10.18926/AMO/57719.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31871337" target="_blank">31871337</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27803343">Knee Pain Predicts Subsequent Shoulder Pain and the Association Is Mediated by Leg Weakness: Longitudinal Observational Data from the Osteoarthritis Initiative.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laslett LL,
|
||
Otahal P,
|
||
Hensor EM,
|
||
Kingsbury SR,
|
||
Conaghan PG</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2016 Nov;43(11):2049-2055.
|
||
Epub 2016 Oct 1
|
||
doi: 10.3899/jrheum.160001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27803343" target="_blank">27803343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26790109">Neurogenic orthostatic hypotension: pathophysiology and diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Low PA</span><br />
|
||
<span class="medgenPMjournal">Am J Manag Care</span>
|
||
2015 Oct;21(13 Suppl):s248-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26790109" target="_blank">26790109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23999567">Clinical reasoning: a 40-year-old man with CIDP-like illness resistant to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lahoria R,
|
||
Karam C,
|
||
Dispenzieri A,
|
||
Dyck PJ</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2013 Sep 3;81(10):e65-70.
|
||
doi: 10.1212/WNL.0b013e3182a3523b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23999567" target="_blank">23999567</a><a href="/pmc/articles/PMC3885213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Difficulty%20standing%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 (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33274880">A Case Report of a Tragic Story of Pott's paraplegia Cured after Four Years.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abdulwadoud Alshoabi S,
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Bushra Gameraddin M,
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<div class="nl"><a target="_blank" href="/pubmed/27803343">Knee Pain Predicts Subsequent Shoulder Pain and the Association Is Mediated by Leg Weakness: Longitudinal Observational Data from the Osteoarthritis Initiative.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Laslett LL,
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Otahal P,
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Hensor EM,
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<span class="bold">PMID: </span><a href="/pubmed/27803343" target="_blank">27803343</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23999567">Clinical reasoning: a 40-year-old man with CIDP-like illness resistant to treatment.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Difficulty%20standing%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27803343">Knee Pain Predicts Subsequent Shoulder Pain and the Association Is Mediated by Leg Weakness: Longitudinal Observational Data from the Osteoarthritis Initiative.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Laslett LL,
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Otahal P,
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Hensor EM,
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Epub 2016 Oct 1
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<span class="bold">PMID: </span><a href="/pubmed/27803343" target="_blank">27803343</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/27053307">Low Back Pain and Everyday Functioning of Students.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Kędra A,
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Kolwicz-Gańko A,
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Sitarski D,
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2016 Jan-Feb;18(1):31-9.
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<span class="bold">PMID: </span><a href="/pubmed/27053307" target="_blank">27053307</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/26790109">Neurogenic orthostatic hypotension: pathophysiology and diagnosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Low PA</span><br />
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<span class="medgenPMjournal">Am J Manag Care</span>
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2015 Oct;21(13 Suppl):s248-57.
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<span class="bold">PMID: </span><a href="/pubmed/26790109" target="_blank">26790109</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/12634016">Methods to assess and improve the physical parameters associated with fall risk in older adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers ME,
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Rogers NL,
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Takeshima N,
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Islam MM</span><br />
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<span class="medgenPMjournal">Prev Med</span>
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2003 Mar;36(3):255-64.
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||
<span class="bold">PMID: </span><a href="/pubmed/12634016" target="_blank">12634016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2683724">Status of anthropometry and body composition data in elderly subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chumlea WC,
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||
Baumgartner RN</span><br />
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<span class="medgenPMjournal">Am J Clin Nutr</span>
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1989 Nov;50(5 Suppl):1158-66; discussion 1231-5.
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<span class="bold">PMID: </span><a href="/pubmed/2683724" target="_blank">2683724</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Difficulty%20standing%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35081667">Living with heart failure: patient experiences and implications for physical activity and daily living.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Niklasson A,
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Maher J,
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Patil R,
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Sillén H,
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Chen J,
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Gwaltney C,
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Rydén A</span><br />
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<span class="medgenPMjournal">ESC Heart Fail</span>
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||
2022 Apr;9(2):1206-1215.
|
||
Epub 2022 Jan 26
|
||
doi: 10.1002/ehf2.13795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35081667" target="_blank">35081667</a><a href="/pmc/articles/PMC8934912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30091045">The impact of hip and knee osteoarthritis on the subsequent risk of incident diabetes: a population-based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kendzerska T,
|
||
King LK,
|
||
Lipscombe L,
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||
Croxford R,
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||
Stanaitis I,
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||
Hawker GA</span><br />
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||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2018 Nov;61(11):2290-2299.
|
||
Epub 2018 Aug 8
|
||
doi: 10.1007/s00125-018-4703-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30091045" target="_blank">30091045</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27803343">Knee Pain Predicts Subsequent Shoulder Pain and the Association Is Mediated by Leg Weakness: Longitudinal Observational Data from the Osteoarthritis Initiative.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laslett LL,
|
||
Otahal P,
|
||
Hensor EM,
|
||
Kingsbury SR,
|
||
Conaghan PG</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2016 Nov;43(11):2049-2055.
|
||
Epub 2016 Oct 1
|
||
doi: 10.3899/jrheum.160001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27803343" target="_blank">27803343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2709546">Risk factors for recurrent nonsyncopal falls. A prospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nevitt MC,
|
||
Cummings SR,
|
||
Kidd S,
|
||
Black D</span><br />
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<span class="medgenPMjournal">JAMA</span>
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1989 May 12;261(18):2663-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2709546" target="_blank">2709546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2683724">Status of anthropometry and body composition data in elderly subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chumlea WC,
|
||
Baumgartner RN</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Nutr</span>
|
||
1989 Nov;50(5 Suppl):1158-66; discussion 1231-5.
|
||
doi: 10.1093/ajcn/50.5.1158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2683724" target="_blank">2683724</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Difficulty%20standing%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 (17)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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