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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

ABSTRACT: Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into their clinical presentation in special institutions in a Central African country. A total of 127 patients (33 females and 94 males, mean age 10.03 ± 4.68 years), were recruited from six institutions across Kinshasa. A clinical diagnosis was achieved in 44 but molecular confirmation was achieved in 21 of the 22 patients with expected genetic defect (95% clinical sensitivity). Identified diseases included Down syndrome (15%), submicroscopic copy number variants (9%), aminoacylase deficiency (0.8%), Partington syndrome in one patient (0.8%) and his similarly affected brother, X-linked syndromic Mental Retardation type 33 (0.8%), and two conditions without clear underlying molecular genetic etiologies (Oculo-Auriculo-Vertebral and Amniotic Bands Sequence). We have shown that genetic etiologies, similar to those reported in Caucasian subjects, are a common etiologic cause of ID in African patients from Africa. We have confirmed the diagnostic utility of clinical characterization prior to genetic testing. Finally, our clinical descriptions provide insights into the presentation of these genetic diseases in African patients.

SUBMITTER: Lumaka A

PROVIDER: S-EPMC6325645 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Lumaka Aimé A Race Valerie V Peeters Hilde H Corveleyn Anniek A Coban-Akdemir Zeynep Z Jhangiani Shalini N SN Song Xiaofei X Mubungu Gerrye G Posey Jennifer J Lupski James R JR Vermeesch Joris R JR Lukusa Prosper P Devriendt Koenraad K

American journal of medical genetics. Part A 20180808 9

Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into ...[more]

PMID: 30088852

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Project description:IntroductionPrehospital care in many low- and middle-income countries is underdeveloped and needs strengthening for improved outcomes. Where formal prehospital care systems are under development, integration of a layperson first responder programme may help improve access for those in need. The World Health Organization recently developed the Community First Aid Responder (CFAR) learning program in support of this system, providing that it may require adaptation to be contextually suitable and sustainably implemented at country level. This study assesses a pilot WHO CFAR course in Kinshasa, Democratic Republic of Congo, to inform future rollouts and related research.MethodsWe conducted a 3-day in-person pilot CFAR training with 42 purposively selected community health workers. Data collection involved quantitative and qualitative phases. The first consisted of structured pre- and post-training surveys, and a course evaluation by participants. The second consisted of two focus group discussions involving purposively selected community health workers in one group, and a convenience sample of course instructors and organisers in the other. Perceptions regarding course content, perceived knowledge acquisition and self-confidence gain were analysed using descriptive statistics for the quantitative data and content analysis for qualitative data.ResultsCourse participants were predominantly male (76.3 %) with a median age of 42 years and most (80.5 %) had no prior first aid training. Most were satisfied that the learning objectives were reached, the logistics were adequate, and that the content and teaching language were appropriately tailored to local context. The majority (94.7 %) found the 3-day duration insufficient. There was a significant self-confidence gain regarding first aid skills (average 17.9 % in pre- to 95.3 % in post-training, p < 0.001). Favourable opinions on the course structure, content, logistics and teaching methods were noted.ConclusionA CFAR course pilot was successfully conducted in Kinshasa. The course is appropriate for context and well received by participants. It can form a key component of developing prehospital care systems in resource-constrained settings.

Project description:BackgroundHepatitis B virus (HBV) co-infection in HIV-infected individuals increases the risk of hepatic complications and mortality. Further, the risk of perinatal HBV transmission increases among HBV/HIV co-infected pregnant women. Although HBV is endemic in the Democratic Republic of Congo, there is little data on HBV/HIV co-infection. We aimed to assess the burden and risk factors of HBV surface antigen (HBsAg) positivity among HIV-infected pregnant and post-partum women.MethodsThis cross-sectional study was conducted as part of an ongoing trial to assess the effect of data-driven continuous quality improvement interventions (CQI) for optimal prevention of mother-to-child transmission (PMTCT) of HIV (CQI-PMTCT study, NCT03048669). In each of the 35 health zones of Kinshasa province, all HIV-infected pregnant or breastfeeding women (≤1 year post-delivery) presenting for care in one of the three busiest maternal and child health clinics of the health zone were tested for HBsAg using Alere Determine, Japan. We used logistic regression with general estimating equation accounting for within-clinic clustering to assess risk factors of HBsAg positivity.ResultsBetween November 2016 and June 2018, a total of 1377 women, all on antiretroviral therapy, were tested for HBsAg. Overall, 4.7% [95% binomial confidence interval (CI): 3.7%-5.7%] tested positive for HBsAg. HBsAg prevalence was 3.3% (95% CI: 2.1%-4.8%) for women tested during pregnancy, 4.5% (2.5%-7.4%) for those tested at delivery, and 8.5% (5.6%-12.2%) for those tested post-partum (Ptrend = 0.001). In multivariate models including socio-economic status (SES), type of care facility, duration of antiretroviral therapy, HIV viral load, and self-reported intimate partner violence (IPV), lowest tertile of SES, ≤ 6 months of ART, and IPV were all consistently and positively associated with higher prevalence of HBsAg across pregnancy, delivery, and postpartum period while been tested in a health centre or having a viral load ≥ 1000 copies/mL were consistently associated with lower prevalence. However, only the association with IPV (OR = 2.74, 95% CI: 1.10-6.84) and viral load between 40-1000 copies/ml (OR = 4.28, 95% CI: 1.22-15.01) achieved statistical significance among pregnant women.ConclusionThis study revealed an overall high prevalence of HBsAg among HIV-infected pregnant and post-partum women in Kinshasa with the latter showing the highest HBsAg prevalence. Among pregnant women, intimate partner violence was independently and statistically associated with HBsAg positivity, requiring further investigation.

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Project description:BackgroundResistance to antibiotics is an increasing and major threat to global health. While the large majority of antimicrobial use occurs in the community where antibiotics are available without prescription, we did not find any studies investigating community-level factors influencing the inappropriate use of antibiotics in the Democratic Republic of Congo (DRC), where non-prescription antibiotic use is prevalent.MethodsThis qualitative study was conducted from April 1st 2019 to May 5th 2019 and consisting of in-depth semi-structured interviews, utilizing purposive and snowball sampling schemes to recruit adult heads of households in the Pakadjuma slum, in Kinshasa, DRC. Participants with differing medical and educational backgrounds were selected. We employed a thematic analysis approach to explore community knowledge and use of antibiotics in the sampled population.ResultsA total of 18 participants with a median age of 35 years were interviewed. The majority was female (77.7%), had at least a secondary education (83.4%), and unemployed (61.1%). We found that participants were familiar with the term "antibiotics", but had limited knowledge of the indications and risks of antibiotics, including the risk of antibiotic resistance. Inappropriate use of antibiotics was common and there was frequent self-medication of non-prescribed medicines for a range of non-indicated conditions such as menstruation. Having limited income was the most commonly reported reason for not visiting a health facility for appropriate health care.ConclusionInappropriate use of antibiotics is a widespread practice and is influenced by lack of adequate knowledge of antibiotic use, indications and risks, prevalent self-medication, and financial barriers to accessing appropriate health care. There is need for both community education as well as structural interventions addressing poverty in order to reduce the inappropriate use of antibiotics in the Pakadjuma slum in Kinshasa.

Dataset Information

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

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