A novel de novo variant in the gene causes cleidocranial dysplasia in a Malian girl.

Key Clinical Message: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.

Abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes.

[Epidemiological and cultural aspect of gingival tattooin the dental department of the Infirmérie Hôpital of Bamako (IHB) in Mali].

Introduction: Gingival tattooing is a traditional practice consisting of artificial pigmentation of the pink gum in black-gray. The objective of this study was to determine the prevalence and level of perception of gingival tattooing in women who came for consultation in the dentistry department of the Infirmary Hospital of Bamako (Mali).

Methodology: This was a cross-sectional, descriptive study lasting 3 months from January 01 to March 31, 2018.

LTR real-time PCR for HIV-1 DNA quantitation in blood cells for early diagnosis in infants born to seropositive mothers treated in HAART area (ANRS CO 01).

HIV-1 diagnosis in babies born to seropositive mothers is one of the challenges of HIV epidemics in children. A simple, rapid protocol was developed for quantifying HIV-1 DNA in whole blood samples and was used in the ANRS French pediatric cohort in conditions of prevention of mother-to-child transmission. A quantitative HIV-1 DNA protocol (LTR real-time PCR) requiring small blood volumes was developed.