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Infantile Myofibromatosis
Orphanet
Clinical description Infantile myofibromatosis (IM) presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. IM is characterized by solitary or multiple nodules that are firm, flesh-colored to purple (''myofibroma''), and usually painless (except in case of compression of adjacent nerves). ... Etiology Most of these tumors are sporadic and isolated. Rare familial cases of IM have been described and 2 genes have been identified as disease causing: PDGFRB and NOTCH3 which encode PDGFRB and NOTCH3 respectively. ... Histopathology remains the gold standard for the diagnosis of IM. Biopsy reveals interlacing fascicles of spindle cells (myofibroblasts) in the periphery. ... Antenatal diagnosis Prenatal diagnosis is achieved by ultrasound examination and confirm by fetal MRI. Genetic counseling IM is mostly isolated and sporadic. In cases of familial and multifocal lesions, IM can be inherited as an autosomal recessive or dominant trait (incomplete penetrance and variable expressivity).
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Congenital Disorder Of Glycosylation, Type Im
OMIM
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Im (CDG1M), also known as dolichol kinase deficiency, is caused by homozygous mutation in the DOLK gene (610746), which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. ... Helander et al. (2013) reported 2 sibs, born of consanguineous Syrian Turkish parents, with CDG type Im. The patients presented at age 4 months with severe intractable seizures and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome (see 308350). ... In 2 sibs, born of consanguineous Syrian Turkish parents, with CDG type Im and a purely neurologic phenotype, Helander et al. (2013) identified a homozygous mutation in the initiating methionine codon of the DOLK gene (610746.0006). ... Kranz et al. (2007) suggested that since dolichol kinase deficiency can be detected by isoelectric focusing (IEF) of serum transferrin, the disorder could be included in the CDG I group with the designation CDG Im. INHERITANCE - Autosomal recessive GROWTH Height - Normal birth length Weight - Normal birth weight Other - Failure to thrive HEAD & NECK Head - Normal birth head circumference - Microcephaly, acquired Eyes - Sparse eyebrows - Sparse eyelashes CARDIOVASCULAR Heart - Dilated cardiomyopathy SKIN, NAILS, & HAIR Skin - Ichthyosis Hair - Sparse eyebrows - Sparse eyelashes - Minimal hair growth NEUROLOGIC Central Nervous System - Hypotonia, profound muscular (in some patients) - Seizures (in some patients) - Hypsarrhythmia (in some patients) METABOLIC FEATURES - Hypoketotic hypoglycemia (in some patients) LABORATORY ABNORMALITIES - Abnormal transferrin isoelectric focusing (IEF) - Increased disialo- and asialotransferrin - Decreased lipid-linked oligosaccharides (LLO) MISCELLANEOUS - Death in early infancy (in some patients) - Some patients present with apparent nonsyndromic dilated cardiomyopathy in early childhood MOLECULAR BASIS - Caused by mutation in the transmembrane protein 15 gene (TMEM15, 610746.0001 ) ▲ Close
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Coronary Artery Anomaly
Wikipedia
AA = antero-left; AR = antero-right; Cx = circumfles artery; IM = intramural; IS = intraseptal; LAD = left anterior descending artery; M = mitral valve; P = posterior; PP = prepulmonic; RA = retroaortic; RC = retrocardiac; RCA = right coronary artery; T = tricuspid valve. R-ACAOS-IM [2] is observed in a higher percentage of cases (0.35% of adolescents) than L-ACAOS-IM [3] but is less likely to be associated with sudden cardiac death in athletes. ... Assessment of severity of stenosis is best achieved by intravascular ultrasound (IVUS) imaging and it should be considered in known carriers of ACAOS-IM or that have symptoms or positive stress test results or are involved in competitive exercises. ... Importantly, untreated carriers of significant ACAOS should not generally engage in competitive sports or strenuous activities. Treatment options for ACAOS-IM include both catheter-based procedures ( percutaneous coronary intervention [PCI]) and surgical interventions. PCI consists of stent angioplasty of the proximal, intramural segment by placing a thin metal tube (a stent) in order to keep open the narrowed artery. PCI of R-ACAOS-IM is feasible and quite successful, but further experience is needed in L-ACAOS-IM since few cases have been treated percutaneously, while surgery is the recommended treatment in this subpopulation, at this time.
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Transcobalamin Deficiency
Orphanet
Management and treatment Treatment of TC involves maintenance of a very high serum cobalamin concentration (1,000-10,000 pg/ml) by intramuscular (IM) administration of hydroxocobalamin. Oral treatment or treatment with cyanocobalamin instead of hydroxocobalamin may result in poorer outcomes. Treatment with IM hydroxocobalamin at least once a week is recommended, with monitoring of biochemical and hematological parameters to ensure that treatment is effective.
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Gfer Syndrome
Wikipedia
Mechanism [ edit ] The most major role of GFER is inside the mitochondria's IMS (it is imported into the mitochondria from the cytosol ). ... These unfolded proteins will not be able to enter the matrix and therefore: The mitochondria will lack various building blocks and its ability to maintain itself will be hindered (e.g., It will not be able to produce cytochrome c oxidase and other building blocks for the ETC, maintenance, correction of errors and splitting). The IMS will become bloated with partially folded proteins with structural damage.
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Pleomorphic Anaplastic Neuroblastoma
Wikipedia
Arch Pathol Lab Med 113:11-12. ^ Shimada H, Ambros IM, Dehner LP, Joshi VV, Roald B (1999). ... Cancer 100(2):390-397. Shimada H, Ambros IM, Dehner LP, Hata J, Joshi VV, Roald B (1999).
- Mediastinal Fibrosis Wikipedia
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Epstein–barr Virus-Associated Lymphoproliferative Diseases
Wikipedia
Individuals who are immunodeficient because of disease, immunosuppressive drugs , or old age immunosenescence may exhibit a more pronounced hyperplasia of affected nodes, higher numbers of EBV+ cells, and a more disseminated disorder termed polymorphic lymphoproliferative disorder. [1] These disorders almost always resolve spontaneously but in very rare cases progress over months or years to EBV+ Hodgkin lymphoma or EBV+ diffuse large B-cell lymphoma of the elderly . [15] Epstein–Barr virus-positive infectious mononucleosis [ edit ] Main article: Infectious mononucleosis Infectious mononucleosis (IM) is caused by EBV in ~90% of cases; the remaining cases are caused by human cytomegalovirus , adenovirus , or toxoplasma . [16] HIV , rubella , and Hepatitis viruses A, B, and C can produce an illness resembling IM. The acute EBV infection is usually asymptomatic or mild in children <5 years old whereas 25–75% of adolescents and adults develop overt IM after infection. [10] The signs and symptoms of IM occur within weeks of EBV infection. ... The tonsils and cervical lymph nodes in these cases are hyperplasic and contain mixtures of normal-appearing lymphocytes, activated lymphocytes , plasma cells , and Reed–Sternberg-like cells . [14] Many of these normal-appearing and activated B cells and a small percentage of the tissue's T and NK cells are EBV+ with the virus being mostly in its lytic cycle rather than latent phases. [1] The diagnosis of mild IM cases is often overlooked or made based on clinical and routine laboratory findings. These cases as well as asymptomatic and more severe cases of EBV infection are diagnosed definitively as EBV-associated by finding during the initial infection period the Epstein–Barr virus, IgM antibody to EBV viral-capsid antigen (VCA-IgM), IgG antibody to VCA (IgG-VCA), and IgG antibody to EBV viral- capsid antigen (EBNA1-IgG) in the blood [10] and/or finding EBV in the oral/nasal secretions. [14] There are no controlled studies on the treatment of uncomplicated EBV+ IM. Short-term courses of corticosteroid drugs are often prescribed for patients afflicted with airways obstruction, autoimmune reactions (e.g. autoimmune anemia or thrombocytopenia ), or other complications of the disease. [17] Treatment of these and the severest IM cases generally use regimens directed at the specific features of each type of complication. [10] Epstein–Barr virus-related hemophagocytic lymphohistiocytosis [ edit ] Main article: Hemophagocytic lymphohistiocytosis Main article: Macrophage activation syndrome Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder characterized by a systemic inflammatory or, in extreme cases, overwhelming cytokine storm condition. ... IM) or asymptomatic EBV infection. Characteristic findings that are also diagnostic criteria for the disorder are: 1) symptoms similar to those in infectious mononucleosis but persist for >3 months; 2) high blood levels of EBV DNA (i.e. >25 viral copies per mg of total DNA); 3) histologic evidence of organ disease; 4) presence of EBV RNA (e.g. an EBER) in an afflicted organ or tissue; and 5) occurrence of these findings in individuals who do not have a known immunodeficiency, malignancy, or autoimmune disorder.
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Onychomadesis
Wikipedia
ISBN 978-0-8089-2351-0 . ^ Freedberg IM, Fitzpatrick TB (2003). Fitzpatrick's dermatology in general medicine (6th ed.).
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Benjamin Syndrome
Wikipedia
Über eine selbständige Form der Anämie im frühen Kindersalter. Verh Deut Ges Kinderh , 1911,119-24. ^ Jablonski, Stanley (1991).
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Snatiation
Wikipedia
Hall also provides the humorous backronym , S neezing N on-controllably A t a T ime of I ndulgence of the A ppetite—a T rait I nherited and O rdained to be N amed. ^ Raphael, Gordon; Raphael, Mindy Hauptschein; Kaliner, Michael (January 1989).
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Placental Site Trophoblastic Tumor
Wikipedia
Prognosis [ edit ] 10–20% of cases metastasize leading to death. References [ edit ] ^ Shih IM, Kurman RJ (January 2001). "The pathology of intermediate trophoblastic tumors and tumor-like lesions".
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Lymphoproliferative Syndrome, X-Linked, 1
OMIM
Purtilo et al. (1982) reviewed 100 cases of XLP in 25 kindreds, and suggested 4 major interrelated phenotypes: infectious mononucleosis (IM), malignant B-cell lymphoma (ML), aplastic anemia (AA), and hypogammaglobulinemia (HGG). Eighty-one of the patients died; 2 were asymptomatic but showed immunodeficiency to EBV; 75 had IM and, concurrently, 17 of this group had AA; all with AA died within a week. On the other hand, AA did not accompany HGG or ML. In 9, IM appeared to evolve into ML; however, most patients with ML showed no obvious antecedent IM. In 1, IM occurred after recurrent ML. Twenty-six of 35 lymphomas were in the terminal ileum.SH2D1A, IL17A, XIAP, IFNG, STAG2, SLAMF1, APCS, IL10, HPRT1, ITK, RTEL1, CD244, CD1D, ICOS, CCR4, TRBV20OR9-2, NR0B2, CD84, TENM1, HPGDS, IL22, RAB27A, FOXP3, AP5M1, NLRC4, IL21, SLAMF6, VPS13B, CD2, PTPN6, PTPN11, IL2RG, DOK1, FUT1, HLA-DQB1, LYST, IL1A, IL1B, IL1RN, IL4, CYBB, IL7R, CD40LG, INS, CD27, PDCD1, SERPINA4, PLCG1, NCF1
- Accessory Breast Wikipedia
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Ganglioneuroblastoma
Wikipedia
PMID 14601099 . ^ Shimada H, Ambros IM, Dehner LP, Hata J, Joshi VV, Roald B (July 1999).PHOX2B, RET, MYO1H, EDN3, ASCL1, BDNF, GDNF, KIF1B, MYCN, TH, TP53, GAPDH, ALK, CCND1, CD44, BCL2, SIGLEC7, VIP, SST, TAC1, TCF3, TNFRSF1B, UCHL1, KHSRP, KDM1A, FUBP1, PDLIM5, WASF3, GALP, UQCC2, UTS2, PSIP1, SLC2A1, ACTB, PTHLH, IL2RB, CD58, CRH, CUX1, ERBB3, EWSR1, FGF8, GAP43, HCLS1, HIC1, INSM1, LGMN, ITGA5, ITGAV, LGALS3, NCAM1, NGF, ADRB3, NTRK1, NTRK2, PCNA, NPY
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Chilaiditi Syndrome
Wikipedia
Chilaiditi: Zur Frage der Hepatoptose und Ptose im allgemeinen im Anschluss an drei Fälle von temporärer, partieller Leberverlagerung.
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Helsmoortel-Van Der Aa Syndrome
Wikipedia
References [ edit ] ^ Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, et al. (March 2018).
- Hoffa Fracture Wikipedia
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Analgesic Nephropathy
Wikipedia
UpToDate . Waltham, MA. ^ Boström, IM; Nyman, G; Hoppe, A; Lord, P (January 2006). ... PMID 16412133 . ^ Frendin, JH; Boström, IM; Kampa, N; Eksell, P; Häggström, JU; Nyman, GC (December 2006). ... American Journal of Veterinary Research . 67 (12): 1967–73. doi : 10.2460/ajvr.67.12.1967 . PMID 17144795 . ^ Boström, IM; Nyman, GC; Lord, PE; Häggström, J; Jones, BE; Bohlin, HP (May 2002).
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Kowarski Syndrome
Wikipedia
Their study demonstrated a decrease ability of the growth hormone from children with the Kowarski syndrome to bind with living IM-9 cells. The test involved measuring the ratio between the levels of growth hormone by a radioreceptor assay (RRA-GH) to the level of growth hormone determined by the established radioimmunoassay (RIA-GH). ... "Decreased Growth Hormone (Gh) Binding to Im-9 Cells in Children with Biologically Inactive Gh Syndrome (Bi)" .