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2 result(s) for "Diallo, Mama Sy"
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Omphalocele: a review of common genetic etiologies
Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect is observed in Congolese hospitals, but risk factors are not well precised on the published case reports, which are more often focused on management. We aim in this paper to make a review on the condition, insisting on the risk factors of omphaloceles mainly of those of genetic origins.
Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal
Globozoospermia is a rare but serious teratozoospermia, characterised by ejaculates consisting of entirely of round-headed spermatozoa without acrosomes or, in the case of partial globozoospermia, containing a variable proportion (20 to 90%) of spermatozoa without acrosomes. Men with total globozoospermia are infertile, and even the use of intracytoplasmic sperm injection (ICSI) has been associated with disappointing success rates. This study confirmed need to complement spermogram with genetic testing in order to confirm diagnosis and to advice on the appropriate management of patients, regardless of phenotype on spermogram.