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<!--
|
||
UID=68549
|
||
ConceptID=C0231807
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exertional dyspnea</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68549</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.">C0231807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Dyspnea on exertion; Dyspnea, exertional; Shortness of breath on exertion</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Exertional dyspnea (60845006); Breathlessness on exertion (60845006); Dyspnea on effort (60845006); Short of breath on exertion (60845006); SOBOE - Shortness of breath on exertion (60845006); Dyspnea on exertion (60845006)</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:0002875">HP:0002875</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet 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>
|
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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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0231807[DISCUI]&test_type=Clinical" ref="ncbi_uid=68549">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Exertional dyspnea</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/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/332433" ref="tree=MeSH" title="MedGen record for Abnormal pattern of respiration">Abnormal pattern of respiration</a></span><ul><li><span class="TLline"><a href="/medgen/3938" ref="tree=MeSH" title="MedGen record for Dyspnea">Dyspnea</a></span><ul><li><span class="matched_ds">Exertional dyspnea</span></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>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_75661"><div><strong>Deficiency of cytochrome-b5 reductase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75661</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.">C0268193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75661">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140788"><div><strong>Anti-glomerular basement membrane disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140788</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.">C0403529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Goodpasture syndrome, also known as anti-GBM disease, is a rare autoimmune disease consisting of alveolar hemorrhage and glomerulonephritis secondary to circulating antiglomerular basement membrane (anti-GBM) antibodies. Anti-GBM antibodies are directed against an antigen intrinsic to the alpha-3 chain of type IV collagen (COL4A3; 120070) that is expressed in the GBMs of the glomerular capillary loops and the basal membrane of the pulmonary alveoli. Goodpasture syndrome is suspected in patients with hemoptysis and hematuria and is confirmed by the presence of anti-GBM antibodies in renal biopsy specimens and serum. Patients with human leukocyte antigen HLA-DR15 and HLA-DR4 are susceptible to the development of Goodpasture syndrome. Reported cases of familial Goodpasture syndrome are extremely rare (summary by Angioi et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140788">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98048"><div><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98048</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.">C0410190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98048">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324806"><div><strong>Hypertrophic cardiomyopathy 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324806</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.">C1837471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324806">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340603"><div><strong>Myopathy, myosin storage, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340603</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.">C1850709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive myosin storage congenital myopathy-7B (CMYO7B) is a skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable, even within families. Most patients develop respiratory insufficiency, nocturnal hypoventilation, and restrictive lung disease; some develop hypertrophic cardiomyopathy. Additional features include myopathic facies, high-arched palate, scoliosis, and muscle wasting with thin body habitus. Serum creatine kinase may be normal or elevated. Skeletal muscle biopsy shows variable findings, including myosin storage disease, type 1 fiber predominance, centralized nuclei, and multiminicore disease (Onengut et al., 2004; Tajsharghi et al., 2007; Beecroft et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340603">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350678"><div><strong>Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350678</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.">C1862472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410074"><div><strong>Interstitial lung disease due to ABCA3 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410074</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.">C1970456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410074">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413312"><div><strong>Hypertrophic cardiomyopathy 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413312</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.">C2750459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442487"><div><strong>Hypertrophic cardiomyopathy 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442487</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.">C2750472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482204"><div><strong>Surfactant metabolism dysfunction, pulmonary, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482204</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.">C3280574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482204">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767513"><div><strong>Mitochondrial DNA deletion syndrome with progressive myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767513</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.">C3554599</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 dominant progressive external ophthalmoplegia-6 (PEOA6) is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/767513">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641215"><div><strong>Primary familial polycythemia due to EPO receptor mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641215</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.">C4551637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Primary familial and congenital erythrocytosis (PFCE), originally described as primary familial and congenital polycythemia, is characterized by isolated erythrocytosis in an individual with a normal to slightly enlarged spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and include rubor, and may or may not include hyperviscosity syndrome (headache, dizziness, altered mentation, visual disturbances, tinnitus, paresthesia, fatigue, lassitude, and weakness) and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCE have absence of or only mild manifestations of hyperviscosity syndrome such as headache or dizziness, some affected individuals have severe and even fatal complications including arterial hypertension, coronary artery disease, myocardial infarction, intracerebral hemorrhage, and deep vein thrombosis (DVT). Phlebotomy-induced iron deficiency results in lassitude, impaired intellect, and impaired athletic performance, especially in children. Iron deficiency may also increase the risk of thromboses. Leukocyte count and differential are normal and platelet count tends to be low normal or slightly low due to hemodilution from increased red blood cells and increased whole blood volume.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1641215">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1643786"><div><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643786</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.">C4551861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750917"><div><strong>Mitochondrial complex IV deficiency, nuclear type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750917</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.">C5435656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by Tiranti et al., 1998; Tiranti et al., 1999; Teraoka et al., 1999; Poyau et al., 2000) Genetic Heterogeneity of Mitochondrial Complex IV Deficiency Most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare (Shoubridge, 2001; Sacconi et al., 2003). Mitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 (604377), caused by mutation in the SCO2 gene (604272); MC4DN3 (619046), caused by mutation in the COX10 gene (602125); MC4DN4 (619048), caused by mutation in the SCO1 gene (603664); MC4DN5 (220111), caused by mutation in the LRPPRC gene (607544); MC4DN6 (615119), caused by mutation in the COX15 gene (603646); MC4DN7 (619051), caused by mutation in the COX6B1 gene (124089); MC4DN8 (619052), caused by mutation in the TACO1 gene (612958); MC4DN9 (616500), caused by mutation in the COA5 gene (613920); MC4DN10 (619053), caused by mutation in the COX14 gene (614478); MC4DN11 (619054), caused by mutation in the COX20 gene (614698); MC4DN12 (619055), caused by mutation in the PET100 gene (614770); MC4DN13 (616501), caused by mutation in the COA6 gene (614772); MC4DN14 (619058), caused by mutation in the COA3 gene (614775); MC4DN15 (619059), caused by mutation in the COX8A gene (123870); MC4DN16 (619060), caused by mutation in the COX4I1 gene (123864); MC4DN17 (619061), caused by mutation in the APOPT1 gene (616003); MC4DN18 (619062), caused by mutation in the COX6A2 gene (602009); MC4DN19 (619063), caused by mutation in the PET117 gene (614771); MC4DN20 (619064), caused by mutation in the COX5A gene (603773); MC4DN21 (619065), caused by mutation in the COXFA4 gene (603883); MC4DN22 (619355), caused by mutation in the COX16 gene (618064); and MC4DN23 (620275), caused by mutation in the COX11 gene (603648). Mitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 (516030), MTCO2 (516040), MTCO3 (516050), MTTS1 (590080), MTTL1 (590050), and MTTN (590010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794136"><div><strong>Interstitial lung disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794136</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.">C5561926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (review by Gross and Hunninghake, 2001; summary by Legendre et al., 2020). Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'idiopathic pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Gross and Hunninghake (2001) reviewed idiopathic pulmonary fibrosis, emphasizing definition, pathogenesis, diagnosis, natural history, and therapy. Antoniou et al. (2004) provided a 'top ten list' of references pertaining to etiopathogenesis, prognosis, diagnosis, therapy, and other aspects of idiopathic pulmonary fibrosis. For a discussion of genetic heterogeneity of ILD, see ILD1 (619611). Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and PFBMFT2 (614743). Some patients with surfactant protein C deficiency (610913) who survive to adulthood manifest features of pulmonary fibrosis.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794136">Condition Record</a></div></div>
|
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<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>
|
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1799164">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1802382"><div><strong>Pulmonary hypertension, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802382</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.">C5676877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary pulmonary hypertension-5 (PPH5) is an autosomal recessive disorder characterized by the onset of pulmonary arterial hypertension in infancy, resulting in right heart dysfunction and ultimately right heart failure. Death in early childhood is common (Machado et al., 2022). For a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1802382">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824079"><div><strong>Respiratory infections, recurrent, and failure to thrive with or without diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824079</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.">C5774306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis (CF; 219700), these patients have normal sweat chloride and pancreatic elastase tests (Bertoli-Avella et al., 2022).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824079">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-glomerular basement membrane disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of cytochrome-b5 reductase</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', 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_442487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 13</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 15</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interstitial lung disease 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Interstitial lung disease due to ABCA3 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex IV deficiency, nuclear type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA deletion syndrome with progressive myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, myosin storage, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary familial polycythemia due to EPO receptor mutation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypertension, primary, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory infections, recurrent, and failure to thrive with or without diarrhea</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Surfactant metabolism dysfunction, pulmonary, 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 1</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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/39172674">Chronic Cough: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda K,
|
||
Nayak R</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2024 Aug;110(2):167-173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39172674" target="_blank">39172674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35001525">Idiopathic pulmonary fibrosis: Current and future treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glass DS,
|
||
Grossfeld D,
|
||
Renna HA,
|
||
Agarwala P,
|
||
Spiegler P,
|
||
DeLeon J,
|
||
Reiss AB</span><br />
|
||
<span class="medgenPMjournal">Clin Respir J</span>
|
||
2022 Feb;16(2):84-96.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1111/crj.13466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35001525" target="_blank">35001525</a><a href="/pmc/articles/PMC9060042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31673990">Dyspnea in COPD: New Mechanistic Insights and Management Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnell DE,
|
||
Milne KM,
|
||
James MD,
|
||
de Torres JP,
|
||
Neder JA</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2020 Jan;37(1):41-60.
|
||
Epub 2019 Oct 30
|
||
doi: 10.1007/s12325-019-01128-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31673990" target="_blank">31673990</a><a href="/pmc/articles/PMC6979461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22exertional%20dyspnea%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 (44)</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/33153686">Occupational Bronchiolitis: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nett RJ,
|
||
Harvey RR,
|
||
Cummings KJ</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2020 Dec;41(4):661-686.
|
||
doi: 10.1016/j.ccm.2020.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33153686" target="_blank">33153686</a><a href="/pmc/articles/PMC7748392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29792299">A Simple, Evidence-Based Approach to Help Guide Diagnosis of Heart Failure With Preserved Ejection Fraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy YNV,
|
||
Carter RE,
|
||
Obokata M,
|
||
Redfield MM,
|
||
Borlaug BA</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2018 Aug 28;138(9):861-870.
|
||
doi: 10.1161/CIRCULATIONAHA.118.034646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29792299" target="_blank">29792299</a><a href="/pmc/articles/PMC6202181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29543134">Inspiratory muscle training reduces diaphragm activation and dyspnea during exercise in COPD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langer D,
|
||
Ciavaglia C,
|
||
Faisal A,
|
||
Webb KA,
|
||
Neder JA,
|
||
Gosselink R,
|
||
Dacha S,
|
||
Topalovic M,
|
||
Ivanova A,
|
||
O'Donnell DE</span><br />
|
||
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
|
||
2018 Aug 1;125(2):381-392.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1152/japplphysiol.01078.2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29543134" target="_blank">29543134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29431384">Cardiomyopathy: An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brieler J,
|
||
Breeden MA,
|
||
Tucker J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Nov 15;96(10):640-646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29431384" target="_blank">29431384</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11886323">Hypertrophic cardiomyopathy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2002 Mar 13;287(10):1308-20.
|
||
doi: 10.1001/jama.287.10.1308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11886323" target="_blank">11886323</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exertional%20dyspnea%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 (509)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37983112">Quadricuspid aortic valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain A,
|
||
Kharge J,
|
||
Manjunath CN,
|
||
Shrimanth YS</span><br />
|
||
<span class="medgenPMjournal">J Invasive Cardiol</span>
|
||
2023 Sep;35(9)
|
||
doi: 10.25270/jic/22.00325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37983112" target="_blank">37983112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065052">Using Cardiopulmonary Exercise Testing to Understand Dyspnea and Exercise Intolerance in Respiratory Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stickland MK,
|
||
Neder JA,
|
||
Guenette JA,
|
||
O'Donnell DE,
|
||
Jensen D</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2022 Jun;161(6):1505-1516.
|
||
Epub 2022 Jan 19
|
||
doi: 10.1016/j.chest.2022.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065052" target="_blank">35065052</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33153686">Occupational Bronchiolitis: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nett RJ,
|
||
Harvey RR,
|
||
Cummings KJ</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2020 Dec;41(4):661-686.
|
||
doi: 10.1016/j.ccm.2020.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33153686" target="_blank">33153686</a><a href="/pmc/articles/PMC7748392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29631735">Exercise-Induced Laryngeal Obstruction-An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nordang L,
|
||
Norlander K,
|
||
Walsted ES</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2018 May;38(2):271-280.
|
||
Epub 2018 Feb 19
|
||
doi: 10.1016/j.iac.2018.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29631735" target="_blank">29631735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29431384">Cardiomyopathy: An Overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brieler J,
|
||
Breeden MA,
|
||
Tucker J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Nov 15;96(10):640-646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29431384" target="_blank">29431384</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exertional%20dyspnea%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 (933)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35001525">Idiopathic pulmonary fibrosis: Current and future treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glass DS,
|
||
Grossfeld D,
|
||
Renna HA,
|
||
Agarwala P,
|
||
Spiegler P,
|
||
DeLeon J,
|
||
Reiss AB</span><br />
|
||
<span class="medgenPMjournal">Clin Respir J</span>
|
||
2022 Feb;16(2):84-96.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1111/crj.13466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35001525" target="_blank">35001525</a><a href="/pmc/articles/PMC9060042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33153686">Occupational Bronchiolitis: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nett RJ,
|
||
Harvey RR,
|
||
Cummings KJ</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2020 Dec;41(4):661-686.
|
||
doi: 10.1016/j.ccm.2020.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33153686" target="_blank">33153686</a><a href="/pmc/articles/PMC7748392" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32250872">Non-CF bronchiectasis: Orphan disease no longer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imam JS,
|
||
Duarte AG</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2020 May;166:105940.
|
||
Epub 2020 Mar 27
|
||
doi: 10.1016/j.rmed.2020.105940.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32250872" target="_blank">32250872</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31673990">Dyspnea in COPD: New Mechanistic Insights and Management Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnell DE,
|
||
Milne KM,
|
||
James MD,
|
||
de Torres JP,
|
||
Neder JA</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2020 Jan;37(1):41-60.
|
||
Epub 2019 Oct 30
|
||
doi: 10.1007/s12325-019-01128-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31673990" target="_blank">31673990</a><a href="/pmc/articles/PMC6979461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29792299">A Simple, Evidence-Based Approach to Help Guide Diagnosis of Heart Failure With Preserved Ejection Fraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy YNV,
|
||
Carter RE,
|
||
Obokata M,
|
||
Redfield MM,
|
||
Borlaug BA</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2018 Aug 28;138(9):861-870.
|
||
doi: 10.1161/CIRCULATIONAHA.118.034646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29792299" target="_blank">29792299</a><a href="/pmc/articles/PMC6202181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exertional%20dyspnea%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 (448)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38245366">Sarcoidosis-Associated Pulmonary Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savale L,
|
||
Dorfmüller P,
|
||
Boucly A,
|
||
Jaïs X,
|
||
Lacoste-Palasset T,
|
||
Jevnikar M,
|
||
Seferian A,
|
||
Humbert M,
|
||
Sitbon O,
|
||
Montani D</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2024 Mar;45(1):185-197.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1016/j.ccm.2023.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38245366" target="_blank">38245366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36907372">Lung Imaging in COPD Part 1: Clinical Usefulness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raoof S,
|
||
Shah M,
|
||
Make B,
|
||
Allaqaband H,
|
||
Bowler R,
|
||
Fernando S,
|
||
Greenberg H,
|
||
Han MK,
|
||
Hogg J,
|
||
Humphries S,
|
||
Lee KS,
|
||
Lynch D,
|
||
Machnicki S,
|
||
Mehta A,
|
||
Mina B,
|
||
Naidich D,
|
||
Naidich J,
|
||
Naqvi Z,
|
||
Ohno Y,
|
||
Regan E,
|
||
Travis WD,
|
||
Washko G,
|
||
Braman S</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2023 Jul;164(1):69-84.
|
||
Epub 2023 Mar 11
|
||
doi: 10.1016/j.chest.2023.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36907372" target="_blank">36907372</a><a href="/pmc/articles/PMC10403625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31673990">Dyspnea in COPD: New Mechanistic Insights and Management Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnell DE,
|
||
Milne KM,
|
||
James MD,
|
||
de Torres JP,
|
||
Neder JA</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2020 Jan;37(1):41-60.
|
||
Epub 2019 Oct 30
|
||
doi: 10.1007/s12325-019-01128-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31673990" target="_blank">31673990</a><a href="/pmc/articles/PMC6979461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29792299">A Simple, Evidence-Based Approach to Help Guide Diagnosis of Heart Failure With Preserved Ejection Fraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy YNV,
|
||
Carter RE,
|
||
Obokata M,
|
||
Redfield MM,
|
||
Borlaug BA</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2018 Aug 28;138(9):861-870.
|
||
doi: 10.1161/CIRCULATIONAHA.118.034646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29792299" target="_blank">29792299</a><a href="/pmc/articles/PMC6202181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29543134">Inspiratory muscle training reduces diaphragm activation and dyspnea during exercise in COPD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langer D,
|
||
Ciavaglia C,
|
||
Faisal A,
|
||
Webb KA,
|
||
Neder JA,
|
||
Gosselink R,
|
||
Dacha S,
|
||
Topalovic M,
|
||
Ivanova A,
|
||
O'Donnell DE</span><br />
|
||
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
|
||
2018 Aug 1;125(2):381-392.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1152/japplphysiol.01078.2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29543134" target="_blank">29543134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exertional%20dyspnea%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 (479)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38843105">Bexotegrast in Patients with Idiopathic Pulmonary Fibrosis: The INTEGRIS-IPF Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lancaster L,
|
||
Cottin V,
|
||
Ramaswamy M,
|
||
Wuyts WA,
|
||
Jenkins RG,
|
||
Scholand MB,
|
||
Kreuter M,
|
||
Valenzuela C,
|
||
Ryerson CJ,
|
||
Goldin J,
|
||
Kim GHJ,
|
||
Jurek M,
|
||
Decaris M,
|
||
Clark A,
|
||
Turner S,
|
||
Barnes CN,
|
||
Achneck HE,
|
||
Cosgrove GP,
|
||
Lefebvre ÉA,
|
||
Flaherty KR;
|
||
PLN-74809-IPF-202 Trial Investigators</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2024 Aug 15;210(4):424-434.
|
||
doi: 10.1164/rccm.202403-0636OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38843105" target="_blank">38843105</a><a href="/pmc/articles/PMC11351797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34051975">Stress Testing in Heart Failure with Preserved Ejection Fraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shim CY</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2021 Jul;17(3):435-445.
|
||
doi: 10.1016/j.hfc.2021.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34051975" target="_blank">34051975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31673990">Dyspnea in COPD: New Mechanistic Insights and Management Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Donnell DE,
|
||
Milne KM,
|
||
James MD,
|
||
de Torres JP,
|
||
Neder JA</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2020 Jan;37(1):41-60.
|
||
Epub 2019 Oct 30
|
||
doi: 10.1007/s12325-019-01128-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31673990" target="_blank">31673990</a><a href="/pmc/articles/PMC6979461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29792299">A Simple, Evidence-Based Approach to Help Guide Diagnosis of Heart Failure With Preserved Ejection Fraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy YNV,
|
||
Carter RE,
|
||
Obokata M,
|
||
Redfield MM,
|
||
Borlaug BA</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2018 Aug 28;138(9):861-870.
|
||
doi: 10.1161/CIRCULATIONAHA.118.034646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29792299" target="_blank">29792299</a><a href="/pmc/articles/PMC6202181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29543134">Inspiratory muscle training reduces diaphragm activation and dyspnea during exercise in COPD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langer D,
|
||
Ciavaglia C,
|
||
Faisal A,
|
||
Webb KA,
|
||
Neder JA,
|
||
Gosselink R,
|
||
Dacha S,
|
||
Topalovic M,
|
||
Ivanova A,
|
||
O'Donnell DE</span><br />
|
||
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
|
||
2018 Aug 1;125(2):381-392.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1152/japplphysiol.01078.2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29543134" target="_blank">29543134</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exertional%20dyspnea%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 (402)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36111729">Prophylaxis and treatment of cancer-related dyspnea with pharmacologic agents: A systematic review and network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chow R,
|
||
Hui D,
|
||
Caini S,
|
||
Simone CB 2nd,
|
||
Prsic E,
|
||
Boldt G,
|
||
Lock M</span><br />
|
||
<span class="medgenPMjournal">Palliat Support Care</span>
|
||
2022 Oct;20(5):744-751.
|
||
doi: 10.1017/S1478951521001656.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36111729" target="_blank">36111729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32892393">Prognostic significance of exercise-induced diastolic dysfunction: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sud K,
|
||
Bhatia KS,
|
||
Vogel B,
|
||
Bohra C,
|
||
Argulian E</span><br />
|
||
<span class="medgenPMjournal">Echocardiography</span>
|
||
2020 Oct;37(10):1594-1602.
|
||
Epub 2020 Sep 5
|
||
doi: 10.1111/echo.14841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32892393" target="_blank">32892393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22285287">Dyspnea in idiopathic pulmonary fibrosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryerson CJ,
|
||
Donesky D,
|
||
Pantilat SZ,
|
||
Collard HR</span><br />
|
||
<span class="medgenPMjournal">J Pain Symptom Manage</span>
|
||
2012 Apr;43(4):771-82.
|
||
Epub 2012 Jan 30
|
||
doi: 10.1016/j.jpainsymman.2011.04.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22285287" target="_blank">22285287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12202851">The acute effects of noninvasive ventilatory support during exercise on exercise endurance and dyspnea in patients with chronic obstructive pulmonary disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van 't Hul A,
|
||
Kwakkel G,
|
||
Gosselink R</span><br />
|
||
<span class="medgenPMjournal">J Cardiopulm Rehabil</span>
|
||
2002 Jul-Aug;22(4):290-7.
|
||
doi: 10.1097/00008483-200207000-00013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12202851" target="_blank">12202851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11886323">Hypertrophic cardiomyopathy: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maron BJ</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2002 Mar 13;287(10):1308-20.
|
||
doi: 10.1001/jama.287.10.1308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11886323" target="_blank">11886323</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exertional%20dyspnea%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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||
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||
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0231807%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0231807%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0231807%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Exertional%20dyspnea" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22exertional%20dyspnea%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Exertional%20dyspnea%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Exertional%20dyspnea" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Exertional%20dyspnea" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Exertional%20dyspnea%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0231807[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0231807[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=68549" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
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||
</div>
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||
</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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</div>
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</div>
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||
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||
|
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