02683cam a2200349 a 4500 EG-GiCUC 20250223032503.0 191218s2018 ua d f m 000 0 eng d EG-GiCUC eng EG-GiCUC eng Deposite M.Sc Cai01.11.28.M.Sc.2018.Mo.B Mostafa Ibrahim Ibrahim Mekhimar Bleeding spectrum in Egyptian children with gaucher disease / Mostafa Ibrahim Ibrahim Mekhimar ; Supervised Lubna Anas Fawaz , Magy Samir Abdelwahab , Marwa Abdelhady Abdelsamad أشكال النزيف فى الأطفال المصريين المصابين بمرض جوشر Cairo : Mostafa Ibrahim Ibrahim Mekhimar, 2018 101 P. : charts , facsimiles ; 23cm Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics Background:Gaucher disease (GD) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells.Objective:The purpose of this study is to report the bleeding spectrum of Egyptian children diagnosed with Gaucher disease, types 1 and 3 and receiving ERT. Methods:Children aged 0-18 years diagnosed with Gaucher disease type 1 and 3 by enzyme assay (Ý-glucocerebrosidase), Genotype or common mutations, following up in hematology outpatient clinic, New Children{u2019}s hospital, Cairo University.patients were subjected to full history taking, full clinical assessment, laboratory investigation (complete blood count,direct platelet count,prothrombin time,partial thromboplastin time,prothrombin concentration,INR,platelet function tests) and abdominal ultrasound for assessment of liver and spleen volumes.Data were analyzed using NCSS© 12 Statistical Software 2018 (NCSS, LLC. Kaysville, Utah, USA) Issued also as CD Bleeding Egyptian Gaucher disease Lubna Anas Fawaz , Supervisor Magy Samir Abdelwahab , Supervisor Marwa Abdelhady Abdelsamad , Supervisor http://172.23.153.220/th.pdf Nazla Revisor Shimaa Cataloger ddc TH 75990 75990 ddc 0 CUCL cl210 2024-02-11 Cai01.11.28.M.Sc.2018.Mo.B 01010110080445000 2023-09-22 00:00:00 TH ddc 0 CUCL cl2u8 2024-02-11 Cai01.11.28.M.Sc.2018.Mo.B 01020110080445000 2023-09-22 00:00:00 80445.CD CD