African health sciences
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African health sciences · Jun 2021
Case ReportsClinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%). ⋯ We report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS. The molecular study of the major gene CREBBP (by Sanger Sequencing followed by CGH array, if sequence normal) revealed point mutations in five patients. For the sixth patient, CGH array revealed a microdeletion carrying the CREBBP gene. Through this work, we emphasize the importance of clinical expertise in the diagnosis, management and genetic counseling in Rubinstein Taybi syndrome.
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African health sciences · Jun 2021
A descriptive prospective study of sports medicine practices for athletes in Uganda.
Many international sporting organizations have recommended practices to reduce the risk of injury. These practices include screening for injury, having appropriate emergency medical care, and protocols for managing injury before return-to-play. The extent of the uptake of these practices in a developing country such as Uganda, is unknown. ⋯ This study identified barriers such as up-to-date knowledge among the sports resource providers; the gaps for appropriate and adequate specific facilities for managing injured athletes, and policies to mandate care of injured athletes. These barriers detract from applying best medical practices.
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African health sciences · Jun 2021
Bacterial vaginosis, the leading cause of genital discharge among women presenting with vaginal infection in Dar es Salaam, Tanzania.
Pathological vaginal discharge is a common complaint of women in reproductive age worldwide caused by various agents. The prevalence and etiologic agents vary depending on the population studied. Management of vaginal discharge in low-income countries, typically depend on the syndromic approach, which limits understanding the specific causative agents. We determined the proportion of bacterial vaginosis, candidiasis, and trichomoniasis among women with vaginal discharge at a regional referral hospital in Dar es Salaam, Tanzania. ⋯ The proportion of bacterial vaginosis in women with vaginal discharge was relatively higher than others, and the presence of vaginal infection relate to socio-demographic characteristics. Further advanced studies are needed to understand the potential role of aetiologic agents in causing vaginal infections.
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African health sciences · Jun 2021
Evaluation of the postal service for referral of specimen of drug resistance tuberculosis in Amhara region, Ethiopia; mixed method.
In Ethiopia, specimens of presumptive drug resistant tuberculosis cases are transported by courier system from district sample collection centers to reference laboratories. It is essential to track the effectiveness of the referral system and identify challenges in order to take timely and appropriate actions. We assessed turnaround time and quality of specimens, and explored challenges of the specimen referral system in Amhara region, Ethiopia, 2017. ⋯ The postal service was effective in keeping quality and majority of test results were timely delivered. Yet, there were operational challenges. Therefore, effective communication, using dedicated vehicle for specimen shipment and awareness creation on specimen collection and handling are recommended.