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<meta name="keywords" content="C0302845, elevated mcv, elevated mean corpuscular volume (mcv), erythrocyte macrocytosis, finding, increased mcv, increased mean corpuscular volume, increased mean corpuscular volume (mcv), mcv - raised, mean corpuscular volume - raised, mean corpuscular volume above reference range, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Larger than normal size of erythrocytes." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=81303
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ConceptID=C0302845
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Increased mean corpuscular volume</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>81303</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0302845</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elevated MCV; Elevated mean corpuscular volume (MCV); Erythrocyte macrocytosis; Increased mean corpuscular volume (MCV)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>MCV - raised (165454002); Mean corpuscular volume - raised (165454002); Mean corpuscular volume above reference range (165454002)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0005518">HP:0005518</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>
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||
<div class="portlet_content ln">Larger than normal size of erythrocytes. [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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Increased mean corpuscular volume</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/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1648289" ref="tree=MeSH" title="MedGen record for Abnormal mean corpuscular volume">Abnormal mean corpuscular volume</a></span><ul><li><span class="matched_ds">Increased mean corpuscular volume</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_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_341253"><div><strong>Methylmalonic aciduria and homocystinuria type cblD</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341253</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.">C1848552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341253">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381529"><div><strong>Monosomy 7 myelodysplasia and leukemia syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381529</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.">C1854978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018). Monosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by Shannon et al., 1989). Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome See also M7MLS2 (619041), caused by germline mutation in the SAMD9 gene (610457) on chromosome 7q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387892"><div><strong>Diamond-Blackfan anemia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387892</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.">C1857719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387892">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348876"><div><strong>Overhydrated hereditary stomatocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348876</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.">C1861455</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390817"><div><strong>Diamond-Blackfan anemia 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390817</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.">C2675511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390817">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436451"><div><strong>Diamond-Blackfan anemia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436451</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.">C2675512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436451">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390966"><div><strong>Diamond-Blackfan anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390966</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.">C2676137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390966">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419918"><div><strong>Diamond-Blackfan anemia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419918</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.">C2931850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419918">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462555"><div><strong>Constitutional megaloblastic anemia with severe neurologic disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462555</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.">C3151205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462555">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863974"><div><strong>Thrombocytopenia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863974</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.">C4015537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected individuals also have a moderate risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other malignant solid tumors, particularly colorectal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908701"><div><strong>Dehydrated hereditary stomatocytosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908701</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.">C4225242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908701">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895657"><div><strong>Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895657</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.">C4225422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</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.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934728"><div><strong>Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934728</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.">C4310761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645250"><div><strong>Dyskeratosis congenita, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645250</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.">C4551974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645250">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1717739"><div><strong>Bone marrow failure syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717739</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.">C5394274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure syndrome-6 (BMFS6) is an autosomal dominant disorder characterized by variable features of hypocellular bone marrow, anemia, neutropenia, lymphopenia, and increased incidence of cancer (Toufektchan et al., 2020). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717739">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1762901"><div><strong>Monosomy 7 myelodysplasia and leukemia syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1762901</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.">C5436668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018). For a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see 252270.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1762901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810465"><div><strong>Immunodeficiency 96</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810465</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.">C5676930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-96 (IMD96) is an autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair (summary by Maffucci et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810465">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823991"><div><strong>Bone marrow failure and diabetes mellitus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823991</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.">C5774218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823991">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841132"><div><strong>Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841132</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.">C5830496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-8 (PFBMFT8) is an autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Some affected individuals have signs of bone marrow failure, such as thrombocytopenia, or liver dysfunction, including hepatopulmonary syndrome. Other features of dyskeratosis congenita, including premature graying of the hair, may be observed. Telomeres are shortened compared to controls (Kelich et al., 2022). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841132">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure and diabetes mellitus syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1717739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constitutional megaloblastic anemia with severe neurologic disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dehydrated hereditary stomatocytosis 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', 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_390966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 14 with mandibulofacial dysostosis</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 1</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810465" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 96</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria and homocystinuria type cblD</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monosomy 7 myelodysplasia and leukemia syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1762901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Monosomy 7 myelodysplasia and leukemia syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overhydrated hereditary stomatocytosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 5</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/38321562">Hydroxyurea Adherence for Personal Best in Sickle Cell Treatment (HABIT) efficacy trial: Community health worker support may increase hydroxyurea adherence of youth with sickle cell disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green NS,
|
||
Manwani D,
|
||
Aygun B,
|
||
Appiah-Kubi A,
|
||
Smith-Whitley K,
|
||
Castillo Y,
|
||
Soriano L,
|
||
Jia H,
|
||
Smaldone AM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2024 Apr;71(4):e30878.
|
||
Epub 2024 Feb 6
|
||
doi: 10.1002/pbc.30878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321562" target="_blank">38321562</a><a href="/pmc/articles/PMC10919354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22521754">Increased mean corpuscular volume of erythrocytes predicts the response to metronomic cyclophosphamide, capecitabine and bevacizumab treatment: is it true for capecitabine treatment or more?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan C,
|
||
Altundag K</span><br />
|
||
<span class="medgenPMjournal">Breast</span>
|
||
2012 Aug;21(4):612-3.
|
||
Epub 2012 Apr 20
|
||
doi: 10.1016/j.breast.2012.03.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22521754" target="_blank">22521754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14506399">Mean corpuscular volume and the aldehyde dehydrogenase-2 genotype in male Japanese workers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yokoyama M,
|
||
Yokoyama A,
|
||
Yokoyama T,
|
||
Hamana G,
|
||
Funazu K,
|
||
Kondo S,
|
||
Yamashita T,
|
||
Yoshimizu H,
|
||
Nakamura H</span><br />
|
||
<span class="medgenPMjournal">Alcohol Clin Exp Res</span>
|
||
2003 Sep;27(9):1395-401.
|
||
doi: 10.1097/01.ALC.0000085589.47243.8D.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14506399" target="_blank">14506399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22increased%20mean%20corpuscular%20volume%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 (8)</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/39195280">Effect of Cyclin-Dependent Kinase 4/6 Inhibitors on Circulating Cells in Patients with Metastatic Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lobo-Martins S,
|
||
Corredeira P,
|
||
Cavaco A,
|
||
Rodrigues C,
|
||
Piairo P,
|
||
Lopes C,
|
||
Fraga J,
|
||
Silva M,
|
||
Alves P,
|
||
Wachholz Szeneszi L,
|
||
Barradas A,
|
||
Castro Duran C,
|
||
Antunes M,
|
||
Nogueira-Costa G,
|
||
Sousa R,
|
||
Pinto C,
|
||
Ribeiro L,
|
||
Abreu C,
|
||
Torres S,
|
||
Quintela A,
|
||
Mata G,
|
||
Megías D,
|
||
Ribot J,
|
||
Serre K,
|
||
Casimiro S,
|
||
Silva-Santos B,
|
||
Diéguez L,
|
||
Costa L</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2024 Aug 21;13(16)
|
||
doi: 10.3390/cells13161391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39195280" target="_blank">39195280</a><a href="/pmc/articles/PMC11487375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37739734">The effects of spirulina supplementation on serum iron and ferritin, anemia parameters, and fecal occult blood in adults with ulcerative colitis: A randomized, double-blinded, placebo-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moradi S,
|
||
Foshati S,
|
||
Poorbaferani F,
|
||
Talebi S,
|
||
Bagheri R,
|
||
Amirian P,
|
||
Parvizi F,
|
||
Nordvall M,
|
||
Wong A,
|
||
Zobeiri M</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr ESPEN</span>
|
||
2023 Oct;57:755-763.
|
||
Epub 2023 Aug 25
|
||
doi: 10.1016/j.clnesp.2023.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37739734" target="_blank">37739734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31819326">Neurological symptoms of vitamin B12 deficiency: analysis of pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serin HM,
|
||
Arslan EA</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2019 Jun;58(2):295-302.
|
||
doi: 10.20471/acc.2019.58.02.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31819326" target="_blank">31819326</a><a href="/pmc/articles/PMC6884369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25206273">Diagnosis of alcoholic liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torruellas C,
|
||
French SW,
|
||
Medici V</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Sep 7;20(33):11684-99.
|
||
doi: 10.3748/wjg.v20.i33.11684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25206273" target="_blank">25206273</a><a href="/pmc/articles/PMC4155359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8444218">The immune response in iron-deficient young children: effect of iron supplementation on cell-mediated immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thibault H,
|
||
Galan P,
|
||
Selz F,
|
||
Preziosi P,
|
||
Olivier C,
|
||
Badoual J,
|
||
Hercberg S</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1993 Feb;152(2):120-4.
|
||
doi: 10.1007/BF02072487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8444218" target="_blank">8444218</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20mean%20corpuscular%20volume%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 (32)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31819326">Neurological symptoms of vitamin B12 deficiency: analysis of pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serin HM,
|
||
Arslan EA</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2019 Jun;58(2):295-302.
|
||
doi: 10.20471/acc.2019.58.02.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31819326" target="_blank">31819326</a><a href="/pmc/articles/PMC6884369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28255644">Etanercept-induced leukemia: could increased mean corpuscular volume be a predictor of hematologic malignancy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cansu DÜ,
|
||
Teke HÜ,
|
||
Korkmaz C</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2017 Aug;37(8):1381-1385.
|
||
Epub 2017 Mar 2
|
||
doi: 10.1007/s00296-017-3687-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28255644" target="_blank">28255644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25206273">Diagnosis of alcoholic liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torruellas C,
|
||
French SW,
|
||
Medici V</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Sep 7;20(33):11684-99.
|
||
doi: 10.3748/wjg.v20.i33.11684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25206273" target="_blank">25206273</a><a href="/pmc/articles/PMC4155359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23723302">Ethylenediaminetetraacetic acid-dependent pseudomacrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vagace JM,
|
||
Rodriguez MÁ,
|
||
de la Maya MD,
|
||
Gervasini G</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2013 Sep;66(9):811-4.
|
||
Epub 2013 May 30
|
||
doi: 10.1136/jclinpath-2013-201545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23723302" target="_blank">23723302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11352316">What evaluation should be done for an apparently healthy patient with an increased mean corpuscular volume (MCV)?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lichtin AE</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2001 May;68(5):381-4.
|
||
doi: 10.3949/ccjm.68.5.381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11352316" target="_blank">11352316</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20mean%20corpuscular%20volume%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37739734">The effects of spirulina supplementation on serum iron and ferritin, anemia parameters, and fecal occult blood in adults with ulcerative colitis: A randomized, double-blinded, placebo-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moradi S,
|
||
Foshati S,
|
||
Poorbaferani F,
|
||
Talebi S,
|
||
Bagheri R,
|
||
Amirian P,
|
||
Parvizi F,
|
||
Nordvall M,
|
||
Wong A,
|
||
Zobeiri M</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr ESPEN</span>
|
||
2023 Oct;57:755-763.
|
||
Epub 2023 Aug 25
|
||
doi: 10.1016/j.clnesp.2023.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37739734" target="_blank">37739734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31819326">Neurological symptoms of vitamin B12 deficiency: analysis of pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serin HM,
|
||
Arslan EA</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2019 Jun;58(2):295-302.
|
||
doi: 10.20471/acc.2019.58.02.13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31819326" target="_blank">31819326</a><a href="/pmc/articles/PMC6884369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28255644">Etanercept-induced leukemia: could increased mean corpuscular volume be a predictor of hematologic malignancy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cansu DÜ,
|
||
Teke HÜ,
|
||
Korkmaz C</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2017 Aug;37(8):1381-1385.
|
||
Epub 2017 Mar 2
|
||
doi: 10.1007/s00296-017-3687-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28255644" target="_blank">28255644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17299811">Triethylene glycol HO(CH2CH2O)3H.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballantyne B,
|
||
Snellings WM</span><br />
|
||
<span class="medgenPMjournal">J Appl Toxicol</span>
|
||
2007 May-Jun;27(3):291-9.
|
||
doi: 10.1002/jat.1220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17299811" target="_blank">17299811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8444218">The immune response in iron-deficient young children: effect of iron supplementation on cell-mediated immunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thibault H,
|
||
Galan P,
|
||
Selz F,
|
||
Preziosi P,
|
||
Olivier C,
|
||
Badoual J,
|
||
Hercberg S</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1993 Feb;152(2):120-4.
|
||
doi: 10.1007/BF02072487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8444218" target="_blank">8444218</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20mean%20corpuscular%20volume%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 (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36393972">Relationship between Red Blood Cell Indices (MCV, MCH, and MCHC) and Major Adverse Cardiovascular Events in Anemic and Nonanemic Patients with Acute Coronary Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Gao S,
|
||
Dong M,
|
||
Luo J,
|
||
Xu C,
|
||
Wen W,
|
||
Huang Y,
|
||
Wu Y,
|
||
Zhou J,
|
||
Yuan Z</span><br />
|
||
<span class="medgenPMjournal">Dis Markers</span>
|
||
2022;2022:2193343.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1155/2022/2193343.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36393972" target="_blank">36393972</a><a href="/pmc/articles/PMC9649320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28255644">Etanercept-induced leukemia: could increased mean corpuscular volume be a predictor of hematologic malignancy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cansu DÜ,
|
||
Teke HÜ,
|
||
Korkmaz C</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2017 Aug;37(8):1381-1385.
|
||
Epub 2017 Mar 2
|
||
doi: 10.1007/s00296-017-3687-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28255644" target="_blank">28255644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25206273">Diagnosis of alcoholic liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torruellas C,
|
||
French SW,
|
||
Medici V</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Sep 7;20(33):11684-99.
|
||
doi: 10.3748/wjg.v20.i33.11684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25206273" target="_blank">25206273</a><a href="/pmc/articles/PMC4155359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24659646">Capecitabine-related increased mean corpuscular volume of red blood cell may be a predictive marker of treatment response and survival in patients with metastatic colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cokmert S,
|
||
Demir L,
|
||
Can A,
|
||
Akyol M,
|
||
Vedat Bayoglu I,
|
||
Dirican A,
|
||
Kucukzeybek Y,
|
||
Erten C,
|
||
Oktay Tarhan M</span><br />
|
||
<span class="medgenPMjournal">J BUON</span>
|
||
2014 Jan-Mar;19(1):75-82.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24659646" target="_blank">24659646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22322836">Increased mean corpuscular volume of erythrocytes during capecitabine treatment: a simple surrogate marker for clinical response.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan C,
|
||
Aksoy S,
|
||
Dizdar O,
|
||
Kurt M,
|
||
Güler N,
|
||
Ozisik Y,
|
||
Güllü I,
|
||
Altundag K</span><br />
|
||
<span class="medgenPMjournal">Tumori</span>
|
||
2011 Nov-Dec;97(6):711-6.
|
||
doi: 10.1177/030089161109700606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22322836" target="_blank">22322836</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20mean%20corpuscular%20volume%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39195280">Effect of Cyclin-Dependent Kinase 4/6 Inhibitors on Circulating Cells in Patients with Metastatic Breast Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lobo-Martins S,
|
||
Corredeira P,
|
||
Cavaco A,
|
||
Rodrigues C,
|
||
Piairo P,
|
||
Lopes C,
|
||
Fraga J,
|
||
Silva M,
|
||
Alves P,
|
||
Wachholz Szeneszi L,
|
||
Barradas A,
|
||
Castro Duran C,
|
||
Antunes M,
|
||
Nogueira-Costa G,
|
||
Sousa R,
|
||
Pinto C,
|
||
Ribeiro L,
|
||
Abreu C,
|
||
Torres S,
|
||
Quintela A,
|
||
Mata G,
|
||
Megías D,
|
||
Ribot J,
|
||
Serre K,
|
||
Casimiro S,
|
||
Silva-Santos B,
|
||
Diéguez L,
|
||
Costa L</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2024 Aug 21;13(16)
|
||
doi: 10.3390/cells13161391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39195280" target="_blank">39195280</a><a href="/pmc/articles/PMC11487375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38640990">Environmental chemical-wide associations with immune biomarkers in US adults: A cross-sectional analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Middleton LYM,
|
||
Nguyen VK,
|
||
Dou J,
|
||
Wang H,
|
||
Patel CJ,
|
||
Park SK,
|
||
Colacino JA,
|
||
Bakulski KM</span><br />
|
||
<span class="medgenPMjournal">Environ Res</span>
|
||
2024 Jul 1;252(Pt 3):118956.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.envres.2024.118956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38640990" target="_blank">38640990</a><a href="/pmc/articles/PMC11707796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28255644">Etanercept-induced leukemia: could increased mean corpuscular volume be a predictor of hematologic malignancy?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cansu DÜ,
|
||
Teke HÜ,
|
||
Korkmaz C</span><br />
|
||
<span class="medgenPMjournal">Rheumatol Int</span>
|
||
2017 Aug;37(8):1381-1385.
|
||
Epub 2017 Mar 2
|
||
doi: 10.1007/s00296-017-3687-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28255644" target="_blank">28255644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25206273">Diagnosis of alcoholic liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torruellas C,
|
||
French SW,
|
||
Medici V</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Sep 7;20(33):11684-99.
|
||
doi: 10.3748/wjg.v20.i33.11684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25206273" target="_blank">25206273</a><a href="/pmc/articles/PMC4155359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22322836">Increased mean corpuscular volume of erythrocytes during capecitabine treatment: a simple surrogate marker for clinical response.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan C,
|
||
Aksoy S,
|
||
Dizdar O,
|
||
Kurt M,
|
||
Güler N,
|
||
Ozisik Y,
|
||
Güllü I,
|
||
Altundag K</span><br />
|
||
<span class="medgenPMjournal">Tumori</span>
|
||
2011 Nov-Dec;97(6):711-6.
|
||
doi: 10.1177/030089161109700606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22322836" target="_blank">22322836</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20mean%20corpuscular%20volume%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 (21)</a></div></div>
|
||
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|
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|
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/30780101">Effects of delayed cord clamping on infants after neonatal period: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Hou R,
|
||
Zhu X,
|
||
Ren L,
|
||
Lu H</span><br />
|
||
<span class="medgenPMjournal">Int J Nurs Stud</span>
|
||
2019 Apr;92:97-108.
|
||
Epub 2019 Feb 8
|
||
doi: 10.1016/j.ijnurstu.2019.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30780101" target="_blank">30780101</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20mean%20corpuscular%20volume%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 (1)</a></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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