Déterminants des parasitoses intestinales chez les enfants VIH-positifs à Kinshasa: Determinants of intestinal parasitosis with HIV positive in Children, Kinshasa

Context and objective. HIV-induced immunosuppression is linked to various infectious complications among which, intestinal parasitoses (IP). Despite high frequency, data on this co-infection are scarce in sub-Saharan Africa. This study assessed the extent of IP in HIV-seropositive children (HIV+) followed in Kinshasa’s referral hospitals. Methods. A multicenter cross-sectional study looking at HIV-positive children (HIV+), aged 18 months to 15 years, was conducted in eight referral hospitals in Kinshasa. Sociodemographic data were recorded, and stool and blood samples were collected from each participant. Parasitological examinations on stool (direct stool and after concentration), as well as Kinyoun (modified Ziehl), were carried out in the parasitology laboratory of the Faculty of Medicine, University of Kinshasa and the level of CD4 T lymphocytes in the blood determined in the reference laboratory of the General Referral Hospital of Kinshasa. Results. Two hundred twenty-seven children (sex ratio M/F: 1.1/1) were examined. Of these, 56 (24.6%, 95% CI: 19.0 -30.3%.) were infected with at least one of the following intestinal parasites: Ascaris lumbricoides (12.8%), Trichiuris trichiura (11.9%), Schistosoma mansoni (0.4%), Entamoeba coli (5.7%) and Giardia intestestinalis (1.8%). Cryptosporidium sp and Isospora belli were not detected. The parents’ low level of education was significantly associated with IP (p = 0.039). Conclusion. In Kinshasa, one in four HIV-positive children, mainly from households with low educational level, has IP. Health education and basic hygiene measures should be promoted as primary strategic tools for prevention and control of IP. Contexte et objectif. L’immunodépression induite par le VIH s’accompagne d’infections diverses et certaines parasitoses intestinales (PI) y sont fréquemment associées. Les données relatives à cette co-infection sont fragmentaires en Afrique subsaharienne. La présente étude a évalué l’ampleur des parasitoses intestinales chez les enfants seropositfs pour le VIH (VIH+) suivis dans les hôpitaux de référence de Kinshasa. Méthodes. Une étude transversale multicentrique a été menée dans huit hôpitaux de référence de Kinshasa, incluant 227 enfants séropositifs pour le VIH (VIH+), âgés de 18 mois à 15 ans. Les données sociodémographiques ont été enregistrées, et les échantillons de selles et de sang collectés chez chacun des participants. Les examens parasitologiques sur selles (selles directes et après concentration), ainsi que le Kinyoun (Ziehl modifié, ont été réalisés au laboratoire de parasitologie de la faculté de Médecine, et le taux de lymphocytes T CD4 sanguin déterminé au laboratoire de référence de l’Hôpital Général de Référence de Kinshasa. Résultats. Deux cent vingt sept enfants (sexe ratio H/F : 1,1/1) ont été examinés. Parmi eux, 56 (24,6%, IC 95% :19,0 -30,3%.) étaient infectés par au moins un des parasites intestinaux suivants: Ascaris lumbricoïdes (12,8%), Trichiuris trichiura (11,9%), Schistosoma mansoni (0,4%), Entamoeba coli (5,7%) et Giardia intestinalis (1,8%). Cryptosporidium sp et Isospora belli n’ont pas été détectés. Le niveau bas d’étude des parents a été significativement associé aux PI (p = 0,039). Conclusion. A Kinshasa, un enfant VIH-séropositif sur quatre, surtout issu d’un ménage où le niveau d’instruction des tuteurs était bas, présente une PI. L’éducation sanitaire et les mesures élémentaires d’hygiène sont à promouvoir comme moyen primordial de prévention et de lutte contre ces PI

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

peer reviewedPERCHING syndrome is a rare multisystem developmental disorder caused by autosomal recessive (AR) variants (truncating and missense) in the Kelch-like family member 7 gene (KLHL7). We report the first phenotypic and molecular description of PERCHING syndrome in a patient from Central Africa. The patient presented multiple dysmorphic features in addition to neurological, respiratory, gastroenteric, and dysautonomic disorders. Clinical Whole Genome Sequencing in the proband and his mother identified two novel heterozygous variants in the KLHL7 gene, including a maternally inherited intronic variant (NM_001031710.2:c.793 + 5G > C) classified as Variant of Uncertain Significance and a frameshift stop gain variant (NM_001031710.2:c.944delG; p.Ser315ThrfsTer23) of unknown inheritance classified as likely pathogenic. Although the diagnosis was only evoked after genomic testing, the review of published patients suggests that this disease could be clinically recognizable and maybe considered as an encephalopathy. Our report will allow expanding the phenotypic and molecular spectrum of Perching syndrome

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting

Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.status: publishe