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987 lines
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118 KiB
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<!--
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UID=8524
|
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ConceptID=C0013491
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ecchymosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8524</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.">C0013491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Ecchymoses</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ecchymosis (77643000); Ecchymoses (77643000); Ecchymosis (302227002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0031364">HP:0031364</a></td></tr>
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||
<div class="portlet_content ln">A purpuric lesion that is larger than 1 cm in diameter. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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 unavailable round" title="Clinical test">C</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">Ecchymosis</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/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="matched_ds">Ecchymosis</span><ul><li><span class="TLline"><a href="/medgen/149268" ref="tree=MeSH" title="MedGen record for Battle sign">Battle sign</a></span></li><li><span class="TLline"><a href="/medgen/209002" ref="tree=MeSH" title="MedGen record for Conjunctival Ecchymosis">Conjunctival Ecchymosis</a></span></li><li><span class="TLline"><a href="/medgen/96609" ref="tree=MeSH" title="MedGen record for Ecchymosis of gingivae">Ecchymosis of gingivae</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_52736"><div><strong>Glanzmann thrombasthenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52736</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.">C0040015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52736">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66381"><div><strong>Pituitary dependent hypercortisolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66381</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.">C0221406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82790"><div><strong>Ehlers-Danlos syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82790</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.">C0268338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82790">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124425"><div><strong>Congenital prothrombin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124425</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.">C0272317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_321945"><div><strong>Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321945</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.">C1832388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376381"><div><strong>Vitamin K-dependent clotting factors, combined deficiency of, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376381</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.">C1848534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344008"><div><strong>Platelet-type bleeding disorder 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344008</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.">C1853278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type bleeding disorder-8 (BDPLT8) is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344008">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_396078"><div><strong>Platelet-type bleeding disorder 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396078</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.">C1861194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/396078">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_356497"><div><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356497</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.">C1866294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/356497">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_442490"><div><strong>Factor XIII, b subunit, deficiency of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442490</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.">C2750481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442490">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442497"><div><strong>Factor XIII, A subunit, deficiency of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442497</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.">C2750514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419514"><div><strong>Hermansky-Pudlak syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419514</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.">C2931875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419514">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_478706"><div><strong>Bernard-Soulier syndrome, type A2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478706</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.">C3277076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001). Genetic Heterogeneity of Bernard-Soulier Syndrome Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481244"><div><strong>Bleeding disorder, platelet-type, 13, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481244</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.">C3279614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Susceptibility to platelet-type bleeding disorder-13 (BDPLT13) is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481750"><div><strong>Platelet-type bleeding disorder 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481750</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.">C3280120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481750">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_854714"><div><strong>Hermansky-Pudlak syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854714</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.">C3888007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/854714">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1794158"><div><strong>Portal hypertension, noncirrhotic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794158</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.">C5561948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021). For a discussion of genetic heterogeneity of NCPH, see 617068.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794158">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847968"><div><strong>Immune dysregulation, autoimmunity, and autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847968</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.">C5848750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways (Tao et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1847968">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bernard-Soulier syndrome, type A2, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, platelet-type, 13, susceptibility to</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital prothrombin deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, musculocontractural type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, type 4</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_442497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor XIII, A subunit, deficiency of</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442490" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor XIII, b subunit, deficiency of</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glanzmann thrombasthenia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immune dysregulation, autoimmunity, and autoinflammation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary dependent hypercortisolism</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 11</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 17</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344008" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension, noncirrhotic, 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitamin K-dependent clotting factors, combined deficiency of, 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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/39042137">An Update on Cutaneous Angiosarcoma Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richards E,
|
||
Schimmel J,
|
||
Renzi M,
|
||
Lawrence N</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2024 May;113(5):218-223.
|
||
doi: 10.12788/cutis.1008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39042137" target="_blank">39042137</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36126009">Thrombocytopenia: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gauer RL,
|
||
Whitaker DJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Sep;106(3):288-298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36126009" target="_blank">36126009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/154860">"Steroid-phobia" in asthma management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuft L</span><br />
|
||
<span class="medgenPMjournal">Ann Allergy</span>
|
||
1979 Mar;42(3):152-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/154860" target="_blank">154860</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ecchymosis%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 (96)</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/32026881">Acquired hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Chávez J,
|
||
Majluf-Cruz A</span><br />
|
||
<span class="medgenPMjournal">Gac Med Mex</span>
|
||
2020;156(1):67-77.
|
||
doi: 10.24875/GMM.19005469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32026881" target="_blank">32026881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26227781">Fifty shades of yellow: a review of the xanthodermatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frew JW,
|
||
Murrell DF,
|
||
Haber RM</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2015 Oct;54(10):1109-23.
|
||
Epub 2015 Jul 30
|
||
doi: 10.1111/ijd.12945.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26227781" target="_blank">26227781</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9729060">Horse bite injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal S,
|
||
Barcala L,
|
||
Tovar JA</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
1998 Sep;8(6):437-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9729060" target="_blank">9729060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3968818">Adult scurvy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reuler JB,
|
||
Broudy VC,
|
||
Cooney TG</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1985 Feb 8;253(6):805-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3968818" target="_blank">3968818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6425760">Carbon dioxide laser blepharoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker SS,
|
||
Muenzler WS,
|
||
Small RG,
|
||
Leonard JE</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1984 Mar;91(3):238-44.
|
||
doi: 10.1016/s0161-6420(84)34305-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6425760" target="_blank">6425760</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ecchymosis%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 (1075)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36374198">Spontaneous periocular ecchymosis: a major review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartley MJ,
|
||
Gounder P,
|
||
Oliphant H</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2023 Apr;42(2):124-129.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1080/01676830.2022.2142944.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36374198" target="_blank">36374198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36508558">Spontaneous ecchymoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guda VA,
|
||
Brown ME,
|
||
Palacios M</span><br />
|
||
<span class="medgenPMjournal">J Fam Pract</span>
|
||
2022 Oct;71(8):E9-E11.
|
||
doi: 10.12788/jfp.0492.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36508558" target="_blank">36508558</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613545">Dermatological Toxicities of Bruton's Tyrosine Kinase Inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibaud V,
|
||
Beylot-Barry M,
|
||
Protin C,
|
||
Vigarios E,
|
||
Recher C,
|
||
Ysebaert L</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2020 Dec;21(6):799-812.
|
||
doi: 10.1007/s40257-020-00535-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613545" target="_blank">32613545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32026881">Acquired hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Chávez J,
|
||
Majluf-Cruz A</span><br />
|
||
<span class="medgenPMjournal">Gac Med Mex</span>
|
||
2020;156(1):67-77.
|
||
doi: 10.24875/GMM.19005469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32026881" target="_blank">32026881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31145659">Brachial distal biceps injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krumm D,
|
||
Lasater P,
|
||
Dumont G,
|
||
Menge TJ</span><br />
|
||
<span class="medgenPMjournal">Phys Sportsmed</span>
|
||
2019 Nov;47(4):406-410.
|
||
Epub 2019 May 30
|
||
doi: 10.1080/00913847.2019.1620653.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31145659" target="_blank">31145659</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ecchymosis%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 (970)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33857043">Methylphenidate Induced Ecchymosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Şahan E,
|
||
Boylu ME</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Danub</span>
|
||
2021 Spring;33(1):65-66.
|
||
doi: 10.24869/psyd.2021.65.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33857043" target="_blank">33857043</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29496572">Colonoscopy-induced hemoscrotum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu D,
|
||
Lu J</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
2018 Aug;88(2):408.
|
||
Epub 2018 Feb 27
|
||
doi: 10.1016/j.gie.2018.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29496572" target="_blank">29496572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9729060">Horse bite injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal S,
|
||
Barcala L,
|
||
Tovar JA</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
1998 Sep;8(6):437-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9729060" target="_blank">9729060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1521489">Scurvy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onorato J,
|
||
Lynfield Y</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
1992 May;49(5):321-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1521489" target="_blank">1521489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3650323">Obstetric vacuum extraction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galvan BJ,
|
||
Broekhuizen FF</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynecol Neonatal Nurs</span>
|
||
1987 Jul-Aug;16(4):242-8.
|
||
doi: 10.1111/j.1552-6909.1987.tb01580.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3650323" target="_blank">3650323</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ecchymosis%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 (1246)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613545">Dermatological Toxicities of Bruton's Tyrosine Kinase Inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sibaud V,
|
||
Beylot-Barry M,
|
||
Protin C,
|
||
Vigarios E,
|
||
Recher C,
|
||
Ysebaert L</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2020 Dec;21(6):799-812.
|
||
doi: 10.1007/s40257-020-00535-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613545" target="_blank">32613545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32026881">Acquired hemophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Chávez J,
|
||
Majluf-Cruz A</span><br />
|
||
<span class="medgenPMjournal">Gac Med Mex</span>
|
||
2020;156(1):67-77.
|
||
doi: 10.24875/GMM.19005469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32026881" target="_blank">32026881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31889407">Complications of botulinum toxin and fillers: A narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kassir M,
|
||
Gupta M,
|
||
Galadari H,
|
||
Kroumpouzos G,
|
||
Katsambas A,
|
||
Lotti T,
|
||
Vojvodic A,
|
||
Grabbe S,
|
||
Juchems E,
|
||
Goldust M</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2020 Mar;19(3):570-573.
|
||
Epub 2019 Dec 30
|
||
doi: 10.1111/jocd.13266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31889407" target="_blank">31889407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29734800">The Face – A Vascular Perspective. A literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">von Arx T,
|
||
Tamura K,
|
||
Yukiya O,
|
||
Lozanoff S</span><br />
|
||
<span class="medgenPMjournal">Swiss Dent J</span>
|
||
2018 May 14;128(5):382-392.
|
||
doi: 10.61872/sdj-2018-05-405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29734800" target="_blank">29734800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9729060">Horse bite injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vidal S,
|
||
Barcala L,
|
||
Tovar JA</span><br />
|
||
<span class="medgenPMjournal">Eur J Dermatol</span>
|
||
1998 Sep;8(6):437-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9729060" target="_blank">9729060</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ecchymosis%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 (471)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36030118">Drainage tube use for the reduction of postoperative ecchymosis in rhinoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caypinar Eser B</span><br />
|
||
<span class="medgenPMjournal">Ann Chir Plast Esthet</span>
|
||
2023 Apr;68(2):145-151.
|
||
Epub 2022 Aug 24
|
||
doi: 10.1016/j.anplas.2022.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36030118" target="_blank">36030118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34172217">Pediatric tracheal trauma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carratola M,
|
||
Hart CK</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2021 Jun;30(3):151057.
|
||
Epub 2021 May 21
|
||
doi: 10.1016/j.sempedsurg.2021.151057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34172217" target="_blank">34172217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22987898">2011: the scurvy Odyssey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardino VR,
|
||
Mendes-Bastos P,
|
||
Noronha C,
|
||
Henriques CC</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2012 Sep 17;2012
|
||
doi: 10.1136/bcr-02-2012-5819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22987898" target="_blank">22987898</a><a href="/pmc/articles/PMC4543164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11174237">Efficacy, safety, and use of snake antivenoms in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dart RC,
|
||
McNally J</span><br />
|
||
<span class="medgenPMjournal">Ann Emerg Med</span>
|
||
2001 Feb;37(2):181-8.
|
||
doi: 10.1067/mem.2001.113372.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11174237" target="_blank">11174237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2304985">Le Fort fractures without mobility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romano JJ,
|
||
Manson PN,
|
||
Mirvis SE,
|
||
Dunham M,
|
||
Crawley W</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1990 Mar;85(3):355-62.
|
||
doi: 10.1097/00006534-199003000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2304985" target="_blank">2304985</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ecchymosis%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 (678)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39587611">Efficacy of arterial compression hemostasis devices in liver cancer treatment: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
|
||
Yang L,
|
||
Qin Q,
|
||
Cui L</span><br />
|
||
<span class="medgenPMjournal">World J Surg Oncol</span>
|
||
2024 Nov 26;22(1):312.
|
||
doi: 10.1186/s12957-024-03599-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39587611" target="_blank">39587611</a><a href="/pmc/articles/PMC11590351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/37953697">Meta-analysis on the efficacy of Traditional Chinese Medicine in enhancing surgical site wound healing post-colorectal surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu HS,
|
||
Qian H,
|
||
Liu J,
|
||
Zhang D</span><br />
|
||
<span class="medgenPMjournal">Int Wound J</span>
|
||
2024 Mar;21(3):e14444.
|
||
Epub 2023 Nov 12
|
||
doi: 10.1111/iwj.14444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37953697" target="_blank">37953697</a><a href="/pmc/articles/PMC10949938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27119920">Interventions to Decrease Postoperative Edema and Ecchymosis after Rhinoplasty: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ong AA,
|
||
Farhood Z,
|
||
Kyle AR,
|
||
Patel KG</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2016 May;137(5):1448-1462.
|
||
doi: 10.1097/PRS.0000000000002101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27119920" target="_blank">27119920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27035499">Is There a Role for Arnica and Bromelain in Prevention of Post-Procedure Ecchymosis or Edema? A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ho D,
|
||
Jagdeo J,
|
||
Waldorf HA</span><br />
|
||
<span class="medgenPMjournal">Dermatol Surg</span>
|
||
2016 Apr;42(4):445-63.
|
||
doi: 10.1097/DSS.0000000000000701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27035499" target="_blank">27035499</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25131000">The efficacy of steroids for edema and ecchymosis after rhinoplasty: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang SH,
|
||
Lee JH,
|
||
Kim BG,
|
||
Kim SW,
|
||
Kang JM</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2015 Jan;125(1):92-8.
|
||
Epub 2014 Aug 18
|
||
doi: 10.1002/lary.24883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25131000" target="_blank">25131000</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ecchymosis%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 (87)</a></div></div>
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