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A nationwide survey of MYH9-related disease in Japan.
Shirai Y, Miura K, Hamada R, Ishikura K, Kunishima S, Hattori M. Shirai Y, et al. Clin Exp Nephrol. 2024 Jan;28(1):40-49. doi: 10.1007/s10157-023-02404-3. Epub 2023 Sep 21. Clin Exp Nephrol. 2024. PMID: 37733142
Most of the 11 patients who underwent kidney transplantation required perioperative red cell concentrate transfusions, but there was no graft loss during the median posttransplant observational period of 2.0 (interquartile range, 1.3-6.8) years. CONCLUSION: Our study demon …
Most of the 11 patients who underwent kidney transplantation required perioperative red cell concentrate transfusions, but there was no graf …
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratory signs, such as sensorineural hearing loss, cataract, nephritis, and poly …
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias …
A case of cochlear implantation in a patient with Epstein syndrome.
Nabekura T, Nagano Y, Matsuda K, Tono T. Nabekura T, et al. Auris Nasus Larynx. 2015 Apr;42(2):160-2. doi: 10.1016/j.anl.2014.09.004. Epub 2014 Oct 5. Auris Nasus Larynx. 2015. PMID: 25293679
Epstein syndrome is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and sensorineural hearing loss. ...A cochlear implant was successfully used with a speech discrimination score of 100% on a Japanese sentence r …
Epstein syndrome is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and sensor …
Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.
Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, Landolfi R, Brok-Simoni F, Carlsson LE, Rechavi G, Greinacher A. Toren A, et al. Blood. 2000 Nov 15;96(10):3447-51. Blood. 2000. PMID: 11071640 Free article.
We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American family with the Epstein syndrome. Four markers on chromosome 22q yielded an LOD …
We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the …
Glycoproteins expression on platelet membrane in inherited macrothrombocytopenias.
Pérez-Pujol S, Lozano M, Escolar G, Díaz-Ricart M, Pujol-Moix N, Ordinas A. Pérez-Pujol S, et al. Thromb Res. 2003;112(4):233-7. doi: 10.1016/j.thromres.2003.12.010. Thromb Res. 2003. PMID: 14987917
We have investigated the expression of constitutively expressed platelet membrane GP and the response to TRAP activation in a group of patients with different forms of inherited macrothrombocytopenias. MATERIALS AND METHODS: Two patients diagnosed Epstein syndrome ( …
We have investigated the expression of constitutively expressed platelet membrane GP and the response to TRAP activation in a group of patie …
Cochlear implantation in a patient with Epstein syndrome.
Nishiyama N, Kawano A, Kawaguchi S, Shirai K, Suzuki M. Nishiyama N, et al. Auris Nasus Larynx. 2013 Aug;40(4):409-12. doi: 10.1016/j.anl.2012.07.005. Epub 2012 Jul 31. Auris Nasus Larynx. 2013. PMID: 22854055
Epstein syndrome is a rare disease which is accompanied by nephritis, sensorineural hearing impairment and macrothrombocytopenia. ...These complications were considered to be caused by platelet dysfunction and delayed wound healing. Furthermore, cochlear destruction …
Epstein syndrome is a rare disease which is accompanied by nephritis, sensorineural hearing impairment and macrothrombocytopen …
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.
Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T, Hamaguchi M, Saito H. Kunishima S, et al. Eur J Haematol. 2007 Mar;78(3):220-6. doi: 10.1111/j.1600-0609.2006.00806.x. Epub 2007 Jan 16. Eur J Haematol. 2007. PMID: 17241369
MYH9 R702 mutations are highly associated with Alport manifestations and result in Epstein syndrome. The aim of our study was to determine the haematological characteristics of MYH9 disorders as a result of R702 mutations to aid in making a proper diagnosis. ...Howe …
MYH9 R702 mutations are highly associated with Alport manifestations and result in Epstein syndrome. The aim of our study was …
Alport syndrome. Molecular genetic aspects.
Hertz JM. Hertz JM. Dan Med Bull. 2009 Aug;56(3):105-52. Dan Med Bull. 2009. PMID: 19728970
Knowledge of a possible correlation between genotype and phenotype can be of help in predicting the prognosis. Samples from 135 probands suspected of AS and 359 of their relatives were collected, together with available clinical information. ...X-linked inheritance could b …
Knowledge of a possible correlation between genotype and phenotype can be of help in predicting the prognosis. Samples from 135 proba …
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
Selleng K, Lubenow LE, Greinacher A, Warkentin TE. Selleng K, et al. Eur J Haematol. 2007 Sep;79(3):263-8. doi: 10.1111/j.1600-0609.2007.00913.x. Epub 2007 Jul 26. Eur J Haematol. 2007. PMID: 17655694
OBJECTIVE: Hereditary thrombocytopenias characterized by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA) are known as MYH9-related hereditary macrothrombocytopenia, and include the May-Hegglin anomaly, Sebastian platelet syndrome, Fechtner syndrome, and …
OBJECTIVE: Hereditary thrombocytopenias characterized by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA) are known a …
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H. Kunishima S, et al. Lab Invest. 2003 Jan;83(1):115-22. doi: 10.1097/01.lab.0000050960.48774.17. Lab Invest. 2003. PMID: 12533692 Free article.
The autosomal dominant macrothrombocytopenia with leukocyte inclusions, May-Hegglin anomaly, Sebastian syndrome, and Fechtner syndrome, are rare human disorders characterized by a triad of giant platelets, thrombocytopenia, and characteristic Dohle body-like cytoplasmic inclusion …
The autosomal dominant macrothrombocytopenia with leukocyte inclusions, May-Hegglin anomaly, Sebastian syndrome, and Fechtner syndrome, are …
13 results