Health sciences and disease : the journal of medicine and health science最新文献

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[Diagnosis and evaluation of the response to treatment of chronic myeloid leukaemia in Mali by fluorescent in situ hybridization]. [通过荧光原位杂交诊断和评估马里慢性骨髓性白血病的治疗反应]。

Health sciences and disease : the journal of medicine and health science Pub Date : 2022-07-01 Epub Date: 2022-06-29

C O Sidibé, O Samassékou, M Bathily, M Ly, Y Diallo, G Landouré, S F Traoré, C O Guinto, M Traoré

{"title":"[Diagnosis and evaluation of the response to treatment of chronic myeloid leukaemia in Mali by fluorescent in situ hybridization].","authors":"C O Sidibé, O Samassékou, M Bathily, M Ly, Y Diallo, G Landouré, S F Traoré, C O Guinto, M Traoré","doi":"","DOIUrl":"","url":null,"abstract":"Objective: Chronic myeloid leukemia (CML) is a hematologic malignancy characterized by the presence of the Philadelphia chromosome or its molecular equivalent, the BCR/ABL1 fusion gene. Diagnosis and monitoring of CML are done by detecting this chromosome, the BCR/ABL1 gene, or the BCR/ABL1 transcript. In Mali, genetic tools of diagnosis and follow-up are still lacking, so we did this study with the objectives of developing the FISH technique to diagnose, to follow up, and to characterize the cytogenetic profile of CML patients.Methods: We carried out FISH technique by using the dual color dual fusion probe for BCR/ABL1 on interphase nuclei and metaphases. Slides were scanned with an epifluorescence microscope.Results: A total of 25 patients (16 for diagnostic and 9 for follow-up) were included. We achieved a 92% success rate for obtaining metaphases. The BCR/ABL1 gene fusion signal was present in 22 patients. Among those 22 patients, 16 presented a typical signal pattern and 6 presented atypical signal patterns.Conclusion: We set up the FISH technique in Mali for the diagnosis and the follow-up of CML patients and identified atypical translocation of t(9;22).","PeriodicalId":93438,"journal":{"name":"Health sciences and disease : the journal of medicine and health science","volume":"23 7","pages":"6-9"},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G]. [G点大学医院神经内科隐性肢带肌营养不良症的临床及实验室特点]。

Health sciences and disease : the journal of medicine and health science Pub Date : 2021-11-01

Th Coulibaly, A J Ouabo, G Landouré, H O Bah, L Cissé, S H Diallo, S Diallo, O Samassékou, A B Maïga, F Kané, A Yalcouyé, A Taméga, A Bocoum, M E Dembélé, A Témé, C O Sidibé, A K Cissé, O Traoré, M Traoré, C O Guinto

{"title":"[Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G].","authors":"Th Coulibaly, A J Ouabo, G Landouré, H O Bah, L Cissé, S H Diallo, S Diallo, O Samassékou, A B Maïga, F Kané, A Yalcouyé, A Taméga, A Bocoum, M E Dembélé, A Témé, C O Sidibé, A K Cissé, O Traoré, M Traoré, C O Guinto","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Limb-Girdle Muscular dystrophies (LGMD) is a group of inherited diseases characterized by predominantly proximal and limb muscle weakness. These are rare diseases that have not been well studied in sub-saharan Africa. The aim of our was the clinical and paraclinical characterization of patients with recessive LGMD at the Department of Neurology of the Teaching Hospital of Point G.Patients and methods: We conducted a longitudinal prospective study which took place from March 2014 to May 2019. Patients with recessive LGMD phenotype were enrolled. Sociodemographic, clinical and laboratory data were analyzed.Results: We enrolled 46 families (67 patients), i.e. a frequency of 16.7% among the neurodegenerative diseases seen in the service. Among them, 45.6% came from the Sikasso region. Autosomal recessive inheritance pattern was suspected in 67.4% of the families. Symptoms appeared mainly in the first decade of life. Proximal muscle weakness was found in almost all patients. Cardiac examination showed dilated cardiomyopathy in 4.5% of cases.Conclusion: Limb-Girdle muscular dystrophy is a disabling disease that is found in Mali. Further study of these cases could elucidate the underlying genetic defects.","PeriodicalId":93438,"journal":{"name":"Health sciences and disease : the journal of medicine and health science","volume":"22 11","pages":"24-28"},"PeriodicalIF":0.0,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612446/pdf/nihms-1754578.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39927067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0