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<!--
|
||
UID=1790456
|
||
ConceptID=C5551413
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Somatic sensory dysfunction</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790456</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.">C5551413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Sensory impairment</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Reduced sensation of skin (398026008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003474">HP:0003474</a></td></tr>
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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">An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. [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>
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<div class="portlet mgSection" id="ID_118">
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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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5551413[DISCUI]&test_type=Clinical" ref="ncbi_uid=1790456">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1790456" ref="ncbi_uid=1790456">V</a></span></span><span class="TLline">Somatic sensory dysfunction</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/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="matched_ds">Somatic sensory dysfunction</span><ul><li><span class="TLline"><a href="/medgen/1779297" ref="tree=MeSH" title="MedGen record for Abnormal exteroceptive sensation">Abnormal exteroceptive sensation</a></span><ul><li><span class="TLline"><a href="/medgen/869265" ref="tree=MeSH" title="MedGen record for Abnormality of pain sensation">Abnormality of pain sensation</a></span><ul><li><span class="TLline"><a href="/medgen/97901" ref="tree=MeSH" title="MedGen record for Dysesthesia">Dysesthesia</a></span></li><li><span class="TLline"><a href="/medgen/373348" ref="tree=MeSH" title="MedGen record for Impaired pain sensation">Impaired pain sensation</a></span></li><li><span class="TLline"><a href="/medgen/325208" ref="tree=MeSH" title="MedGen record for Painless fractures due to injury">Painless fractures due to injury</a></span></li><li><span class="TLline"><a href="/medgen/869264" ref="tree=MeSH" title="MedGen record for Spontaneous pain sensation">Spontaneous pain sensation</a></span></li><li><span class="TLline"><a href="/medgen/866865" ref="tree=MeSH" title="MedGen record for Trophic changes related to pain">Trophic changes related to pain</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9361" ref="tree=MeSH" title="MedGen record for Hyperesthesia">Hyperesthesia</a></span></li><li><span class="TLline"><a href="/medgen/6974" ref="tree=MeSH" title="MedGen record for Hypoesthesia">Hypoesthesia</a></span><ul><li><span class="TLline"><a href="/medgen/353396" ref="tree=MeSH" title="MedGen record for Arm Or Hand Hypoesthesia">Arm Or Hand Hypoesthesia</a></span></li><li><span class="TLline"><a href="/medgen/313199" ref="tree=MeSH" title="MedGen record for Foot Or Leg Hypoesthesia">Foot Or Leg Hypoesthesia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866866" ref="tree=MeSH" title="MedGen record for Impaired tactile sensation">Impaired tactile sensation</a></span><ul><li><span class="TLline"><a href="/medgen/867225" ref="tree=MeSH" title="MedGen record for Impaired distal tactile sensation">Impaired distal tactile sensation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866867" ref="tree=MeSH" title="MedGen record for Impaired temperature sensation">Impaired temperature sensation</a></span></li><li><span class="TLline"><a href="/medgen/14619" ref="tree=MeSH" title="MedGen record for Paresthesia">Paresthesia</a></span><ul><li><span class="TLline"><a href="/medgen/66692" ref="tree=MeSH" title="MedGen record for Acroparesthesia">Acroparesthesia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841956" ref="tree=MeSH" title="MedGen record for Perianal anethesia">Perianal anethesia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/451034" ref="tree=MeSH" title="MedGen record for Dissociated sensory loss">Dissociated sensory loss</a></span></li><li><span class="TLline"><a href="/medgen/335722" ref="tree=MeSH" title="MedGen record for Distal sensory impairment">Distal sensory impairment</a></span></li><li><span class="TLline"><a href="/medgen/346424" ref="tree=MeSH" title="MedGen record for Impaired proprioception">Impaired proprioception</a></span><ul><li><span class="TLline"><a href="/medgen/867227" ref="tree=MeSH" title="MedGen record for Impaired distal proprioception">Impaired distal proprioception</a></span></li><li><span class="TLline"><a href="/medgen/220959" ref="tree=MeSH" title="MedGen record for Impaired vibratory sensation">Impaired vibratory sensation</a></span><ul><li><span class="TLline"><a href="/medgen/325190" ref="tree=MeSH" title="MedGen record for Abolished vibration sense">Abolished vibration sense</a></span></li><li><span class="TLline"><a href="/medgen/381262" ref="tree=MeSH" title="MedGen record for Impaired distal vibration sensation">Impaired distal vibration sensation</a></span></li><li><span class="TLline"><a href="/medgen/338617" ref="tree=MeSH" title="MedGen record for Impaired vibration sensation in the lower limbs">Impaired vibration sensation in the lower limbs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66017" ref="tree=MeSH" title="MedGen record for Positive Romberg sign">Positive Romberg sign</a></span></li><li><span class="TLline"><a href="/medgen/66020" ref="tree=MeSH" title="MedGen record for Sensory ataxia">Sensory ataxia</a></span></li></ul></li></ul></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_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_11161"><div><strong>Phytanic acid storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11161</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.">C0034960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11161">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_235598"><div><strong>Hereditary intrinsic factor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235598</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.">C1394891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrinsic factor deficiency (IFD), or congenital pernicious anemia, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371441"><div><strong>Brody myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371441</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.">C1832918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371441">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371512"><div><strong>Charcot-Marie-Tooth disease type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371512</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.">C1833219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371512">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376235"><div><strong>Charcot-Marie-Tooth disease, dominant intermediate A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376235</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.">C1847896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease, dominant intermediate-A (CMTDIA) is an autosomal dominant peripheral neuropathy characterized by onset of symptoms in the first or second decades of life. Affected individuals have difficulty walking with muscle cramps of the lower limbs; the motor symptoms may be worsened by cold. The disorder is slowly progressive, eventually involving all 4 limbs, but patients remain ambulatory. After age 40, patients develop more severe features, including distal muscle weakness and atrophy, pes cavus, areflexia, and distal sensory loss. Electrophysiologic studies yield nerve conduction velocities with 'intermediate' values between demyelinating and axonal neuropathy (see below). One such family has been reported (Rossi et al., 1985).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376235">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339941"><div><strong>Spinocerebellar ataxia type 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339941</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.">C1853249</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339941">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355075"><div><strong>Neuronal intranuclear inclusion disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355075</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.">C1863843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Neuronal intranuclear inclusion disease (NIID) is an autosomal dominant, slowly progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The age at onset varies, but most individuals present as adults between about 30 and 70 years of age. Pathologic investigation shows eosinophilic intranuclear inclusions in almost all cell types, including neurons, skin cells, fibroblasts, and skeletal muscle. Brain imaging shows a characteristic leukoencephalopathy with high intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI), as well as white matter abnormalities in subcortical and brainstem regions. Skin biopsy combined with brain imaging is useful for diagnosis (summary by Sone et al., 2016). The phenotype in some cases is suggestive of Parkinson disease (see 168600) and/or Alzheimer disease (see 104300), consistent with an evolving phenotypic spectrum of adult-onset NIID (summary by Tian et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393399"><div><strong>Amyotrophic lateral sclerosis type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393399</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.">C2675491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393399">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767280"><div><strong>Charcot-Marie-Tooth disease axonal type 2Q</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767280</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.">C3554366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767280">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811490"><div><strong>Hereditary spastic paraplegia 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811490</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.">C3714897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811490">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815639"><div><strong>Charcot-Marie-Tooth disease recessive intermediate C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815639</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.">C3809309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815639">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862808"><div><strong>Immunodeficiency 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862808</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.">C4014371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862808">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_865256"><div><strong>Imerslund-Grasbeck syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865256</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.">C4016819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13. Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003. Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/865256">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934757"><div><strong>Charcot-Marie-Tooth disease axonal type 2CC</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934757</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.">C4310790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934757">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640947"><div><strong>Alacrima, achalasia, and intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640947</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.">C4706563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640947">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1655287"><div><strong>Autosomal recessive spastic paraplegia type 70</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1655287</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.">C4749431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1655287">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1794139"><div><strong>Leukoencephalopathy, diffuse hereditary, with spheroids 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794139</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.">C5561929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The spectrum of CSF1R-related disorder ranges from early-onset disease (age <18 years) to late-onset disease (age =18 years). Early-onset disease is associated with hypotonia, delayed acquisition of developmental milestones, and non-neurologic manifestations (such as skeletal abnormalities); both early- and late-onset disease have similar neurodegenerative involvement. Most affected individuals eventually become bedridden with spasticity, rigidity, and loss of the ability to walk. They lose speech and voluntary movement and appear to be generally unaware of their surroundings. The last stage of disease progresses to a vegetative state with presence of primitive reflexes, such as visual and tactile grasp, mouth-opening reflex, and sucking reflex. Death most commonly results from pneumonia or other infections. About 500 individuals with CSF1R-related disorder have been reported to date.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794139">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1802496"><div><strong>Spinocerebellar ataxia, autosomal recessive 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802496</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.">C5676978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1802496">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1830501"><div><strong>Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830501</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.">C5780022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to phenotypes involving both the central nervous system and peripheral nervous system referred to collectively as DYNC1H1-related neurodevelopmental disorder (DYNC1H1-NDD). DYNC1H1-NMD manifestations are limited to the peripheral nervous system and characterized predominantly by motor neuropathy initially most pronounced in the lower limbs; muscle weakness and atrophy variably associated with foot deformities, contractures, and other skeletal involvement; and/or delayed motor milestones. DYNC1H1-NDD manifestations include motor axonal neuropathy and often global developmental delay / intellectual disability, epilepsy, neurobehavioral/psychiatric manifestations, and movement disorders with or without malformations of cortical development and/or microcephaly. In an individual with more significant central nervous system involvement, the motor axonal neuropathy may not be evident clinically and, thus, is only detected on further evaluation such as electrophysiologic testing.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1830501">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640947" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alacrima, achalasia, and intellectual disability syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 11</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1655287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spastic paraplegia type 70</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brody myopathy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2CC</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2Q</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease recessive intermediate C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 2B</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, dominant intermediate A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_235598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary intrinsic factor deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 57</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Imerslund-Grasbeck syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal intranuclear inclusion disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phytanic acid storage disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 28</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 32</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/38100766">Sacral Tarlov perineurial cysts: a systematic review of treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paredes Mogica JA,
|
||
Feigenbaum F,
|
||
Pilitsis JG,
|
||
Schrot RJ,
|
||
Oaklander AL,
|
||
De EJB</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2024 Mar 1;40(3):375-388.
|
||
Epub 2023 Dec 15
|
||
doi: 10.3171/2023.9.SPINE23559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38100766" target="_blank">38100766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30664364">Mechanism-based pain management in chronic pancreatitis - is it time for a paradigm shift?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuhlmann L,
|
||
Olesen SS,
|
||
Olesen AE,
|
||
Arendt-Nielsen L,
|
||
Drewes AM</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
|
||
2019 Mar;12(3):249-258.
|
||
Epub 2019 Feb 5
|
||
doi: 10.1080/17512433.2019.1571409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30664364" target="_blank">30664364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20104402">Neuropsychiatric diagnosis and management of chronic sequelae of war-related mild to moderate traumatic brain injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halbauer JD,
|
||
Ashford JW,
|
||
Zeitzer JM,
|
||
Adamson MM,
|
||
Lew HL,
|
||
Yesavage JA</span><br />
|
||
<span class="medgenPMjournal">J Rehabil Res Dev</span>
|
||
2009;46(6):757-96.
|
||
doi: 10.1682/jrrd.2008.08.0119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20104402" target="_blank">20104402</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(somatic%20sensory%20dysfunction)%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 (14)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng127" target="_blank">UK NICE Guideline (NG127), Suspected neurological conditions: recognition and referral, 2023</a></h3>
|
||
</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/28504110">Neurological consequences of obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Brien PD,
|
||
Hinder LM,
|
||
Callaghan BC,
|
||
Feldman EL</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2017 Jun;16(6):465-477.
|
||
doi: 10.1016/S1474-4422(17)30084-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28504110" target="_blank">28504110</a><a href="/pmc/articles/PMC5657398" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21877183">Recent advances in the understanding of genetic susceptibility to chronic pain and somatic symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holliday KL,
|
||
McBeth J</span><br />
|
||
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
|
||
2011 Dec;13(6):521-7.
|
||
doi: 10.1007/s11926-011-0208-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21877183" target="_blank">21877183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15733628">Comparison of pain syndromes associated with nervous or somatic lesions and development of a new neuropathic pain diagnostic questionnaire (DN4).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhassira D,
|
||
Attal N,
|
||
Alchaar H,
|
||
Boureau F,
|
||
Brochet B,
|
||
Bruxelle J,
|
||
Cunin G,
|
||
Fermanian J,
|
||
Ginies P,
|
||
Grun-Overdyking A,
|
||
Jafari-Schluep H,
|
||
Lantéri-Minet M,
|
||
Laurent B,
|
||
Mick G,
|
||
Serrie A,
|
||
Valade D,
|
||
Vicaut E</span><br />
|
||
<span class="medgenPMjournal">Pain</span>
|
||
2005 Mar;114(1-2):29-36.
|
||
Epub 2005 Jan 26
|
||
doi: 10.1016/j.pain.2004.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15733628" target="_blank">15733628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8701557">Evoked potential testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vodusek DB</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
1996 Aug;23(3):427-46.
|
||
doi: 10.1016/s0094-0143(05)70323-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8701557" target="_blank">8701557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7789057">Multidisciplinary approach to fibromyalgia. A pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mengshoel AM,
|
||
Forseth KO,
|
||
Haugen M,
|
||
Walle-Hansen R,
|
||
Førre O</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
1995 Mar;14(2):165-70.
|
||
doi: 10.1007/BF02214937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7789057" target="_blank">7789057</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Somatic%20sensory%20dysfunction%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 (185)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39305894">A fast and responsive voltage indicator with enhanced sensitivity for unitary synaptic events.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hao YA,
|
||
Lee S,
|
||
Roth RH,
|
||
Natale S,
|
||
Gomez L,
|
||
Taxidis J,
|
||
O'Neill PS,
|
||
Villette V,
|
||
Bradley J,
|
||
Wang Z,
|
||
Jiang D,
|
||
Zhang G,
|
||
Sheng M,
|
||
Lu D,
|
||
Boyden E,
|
||
Delvendahl I,
|
||
Golshani P,
|
||
Wernig M,
|
||
Feldman DE,
|
||
Ji N,
|
||
Ding J,
|
||
Südhof TC,
|
||
Clandinin TR,
|
||
Lin MZ</span><br />
|
||
<span class="medgenPMjournal">Neuron</span>
|
||
2024 Nov 20;112(22):3680-3696.e8.
|
||
Epub 2024 Sep 20
|
||
doi: 10.1016/j.neuron.2024.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39305894" target="_blank">39305894</a><a href="/pmc/articles/PMC11581914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30296978">The peripheral nerves: update on ultrasound and magnetic resonance imaging.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Möller I,
|
||
Miguel M,
|
||
Bong DA,
|
||
Zaottini F,
|
||
Martinoli C</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2018 Sep-Oct;36 Suppl 114(5):145-158.
|
||
Epub 2018 Oct 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/30296978" target="_blank">30296978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28085788">Essentials of Our Current Understanding: Abdominal Wall Blocks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chin KJ,
|
||
McDonnell JG,
|
||
Carvalho B,
|
||
Sharkey A,
|
||
Pawa A,
|
||
Gadsden J</span><br />
|
||
<span class="medgenPMjournal">Reg Anesth Pain Med</span>
|
||
2017 Mar/Apr;42(2):133-183.
|
||
doi: 10.1097/AAP.0000000000000545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28085788" target="_blank">28085788</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25943558">Ocular neuropathic pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenthal P,
|
||
Borsook D</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2016 Jan;100(1):128-34.
|
||
Epub 2015 May 5
|
||
doi: 10.1136/bjophthalmol-2014-306280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25943558" target="_blank">25943558</a><a href="/pmc/articles/PMC4717373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17479598">What lies beneath the surface of the itch in adults?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weldon D</span><br />
|
||
<span class="medgenPMjournal">Allergy Asthma Proc</span>
|
||
2007 Mar-Apr;28(2):153-62.
|
||
doi: 10.2500/aap.2007.28.2942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17479598" target="_blank">17479598</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Somatic%20sensory%20dysfunction%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 (243)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28085788">Essentials of Our Current Understanding: Abdominal Wall Blocks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chin KJ,
|
||
McDonnell JG,
|
||
Carvalho B,
|
||
Sharkey A,
|
||
Pawa A,
|
||
Gadsden J</span><br />
|
||
<span class="medgenPMjournal">Reg Anesth Pain Med</span>
|
||
2017 Mar/Apr;42(2):133-183.
|
||
doi: 10.1097/AAP.0000000000000545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28085788" target="_blank">28085788</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17324677">Altered cortical excitability in subjectively electrosensitive patients: results of a pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landgrebe M,
|
||
Hauser S,
|
||
Langguth B,
|
||
Frick U,
|
||
Hajak G,
|
||
Eichhammer P</span><br />
|
||
<span class="medgenPMjournal">J Psychosom Res</span>
|
||
2007 Mar;62(3):283-8.
|
||
doi: 10.1016/j.jpsychores.2006.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17324677" target="_blank">17324677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15253601">Lumbar radicular pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Govind J</span><br />
|
||
<span class="medgenPMjournal">Aust Fam Physician</span>
|
||
2004 Jun;33(6):409-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15253601" target="_blank">15253601</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11459884">Ramsay Hunt syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sweeney CJ,
|
||
Gilden DH</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2001 Aug;71(2):149-54.
|
||
doi: 10.1136/jnnp.71.2.149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11459884" target="_blank">11459884</a><a href="/pmc/articles/PMC1737523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11135274">Pelvic cancer pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigor BM Sr</span><br />
|
||
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2000 Dec;75(4):280-300.
|
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doi: 10.1002/1096-9098(200012)75:4<280::aid-jso13>3.0.co;2-q.
|
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<span class="bold">PMID: </span><a href="/pubmed/11135274" target="_blank">11135274</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Somatic%20sensory%20dysfunction%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 (127)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30296978">The peripheral nerves: update on ultrasound and magnetic resonance imaging.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Möller I,
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Miguel M,
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Bong DA,
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Zaottini F,
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<span class="bold">PMID: </span><a href="/pubmed/30296978" target="_blank">30296978</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28085788">Essentials of Our Current Understanding: Abdominal Wall Blocks.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chin KJ,
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McDonnell JG,
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<div class="portlet_content ln"><span class="medgenPMauthor">Sweeney CJ,
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2001 Aug;71(2):149-54.
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<div class="nl"><a target="_blank" href="/pubmed/8701557">Evoked potential testing.</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/7789057">Multidisciplinary approach to fibromyalgia. A pilot study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mengshoel AM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Somatic%20sensory%20dysfunction%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 (88)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34980249">Aging, frailty, and design of built environments.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Crews DE</span><br />
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<span class="medgenPMjournal">J Physiol Anthropol</span>
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2022 Jan 3;41(1):2.
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doi: 10.1186/s40101-021-00274-w.
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/28553764">Somatosensory tinnitus: Current evidence and future perspectives.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ralli M,
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Greco A,
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||
Turchetta R,
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Altissimi G,
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de Vincentiis M,
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Epub 2017 May 28
|
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doi: 10.1177/0300060517707673.
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<span class="bold">PMID: </span><a href="/pubmed/28553764" target="_blank">28553764</a><a href="/pmc/articles/PMC5536427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27876359">Somatoautonomic reflexes in acupuncture therapy: A review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Uchida S,
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Kagitani F,
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Sato-Suzuki I</span><br />
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2017 Mar;203:1-8.
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Epub 2016 Nov 16
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doi: 10.1016/j.autneu.2016.11.001.
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<span class="bold">PMID: </span><a href="/pubmed/27876359" target="_blank">27876359</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/25943558">Ocular neuropathic pain.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenthal P,
|
||
Borsook D</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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||
2016 Jan;100(1):128-34.
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||
Epub 2015 May 5
|
||
doi: 10.1136/bjophthalmol-2014-306280.
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||
<span class="bold">PMID: </span><a href="/pubmed/25943558" target="_blank">25943558</a><a href="/pmc/articles/PMC4717373" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8369640">Early childhood abuse and limbic system ratings in adult psychiatric outpatients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teicher MH,
|
||
Glod CA,
|
||
Surrey J,
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||
Swett C Jr</span><br />
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||
<span class="medgenPMjournal">J Neuropsychiatry Clin Neurosci</span>
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||
1993 Summer;5(3):301-6.
|
||
doi: 10.1176/jnp.5.3.301.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8369640" target="_blank">8369640</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Somatic%20sensory%20dysfunction%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 (187)</a></div></div>
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||
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|
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|
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/39486472">Structural and functional alterations in different types of delusions across schizophrenia spectrum: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dudina AN,
|
||
Tomyshev AS,
|
||
Ilina EV,
|
||
Romanov DV,
|
||
Lebedeva IS</span><br />
|
||
<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
|
||
2025 Jan 10;136:111185.
|
||
Epub 2024 Oct 30
|
||
doi: 10.1016/j.pnpbp.2024.111185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39486472" target="_blank">39486472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38100766">Sacral Tarlov perineurial cysts: a systematic review of treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paredes Mogica JA,
|
||
Feigenbaum F,
|
||
Pilitsis JG,
|
||
Schrot RJ,
|
||
Oaklander AL,
|
||
De EJB</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2024 Mar 1;40(3):375-388.
|
||
Epub 2023 Dec 15
|
||
doi: 10.3171/2023.9.SPINE23559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38100766" target="_blank">38100766</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Somatic%20sensory%20dysfunction%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5551413%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5551413%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
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<div class="row">
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<li>
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||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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||
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
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||
</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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