C O Sidibé, O Samassékou, M Bathily, M Ly, Y Diallo, G Landouré, S F Traoré, C O Guinto, M Traoré
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).
目的：慢性髓性白血病（CML）是一种血液系统恶性肿瘤，其特征是存在费城染色体或其分子等价物 BCR/ABL1 融合基因。诊断和监测 CML 的方法是检测该染色体、BCR/ABL1 基因或 BCR/ABL1 转录本。在马里，仍然缺乏诊断和随访的基因工具，因此我们开展了这项研究，目的是开发 FISH 技术，用于诊断、随访和描述 CML 患者的细胞遗传学特征：方法：我们使用 BCR/ABL1 双色双融合探针对期间期细胞核和分裂相进行了 FISH 技术检测。用荧光显微镜扫描切片：共纳入 25 例患者（16 例用于诊断，9 例用于随访）。我们获得分裂相的成功率为 92%。22例患者出现了BCR/ABL1基因融合信号。在这 22 例患者中，16 例呈现典型信号模式，6 例呈现非典型信号模式：我们在马里建立了 FISH 技术，用于 CML 患者的诊断和随访，发现了 t（9;22）非典型易位。
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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
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.
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