Genomics and Health Data Governance in Africa: Democratize the Use of Big Data and Popularize Public Engagement.

Effectively addressing ethical issues in precision medicine research in Africa requires a holistic social contract that integrates biomedical knowledge with local cultural values and Indigenous knowledge systems. Drawing on African epistemologies such as ubuntu and ujamaa and on our collective experiences in genomics and big data research for sickle cell disease, hearing impairment, and fragile X syndrome and the project Public Understanding of Big Data in Genomics Medicine in Africa, we envision a transformative shift in health research data governance in Africa that could help create a sense of shared responsibility between all stakeholders in genomics and data-driven health research in Africa. This shift includes proposing a social contract for genomics and data science in health research that is grounded in African communitarianism such as solidarity, shared decision-making, and reciprocity.

Navigating the Genetic Frontier for the Integration of Genetic Services into African Healthcare Systems: A scoping review.

Background: The integration of genetic services into African healthcare systems is a multifaceted endeavor marked by both obstacles and prospects. This study aims to furnish evidence-based recommendations for policymakers and healthcare entities to facilitate the effective assimilation of genetic services within African healthcare systems.

Methods: Employing a scoping review methodology, we scrutinized peer-reviewed studies spanning from 2003 to 2023, sourced from PubMed, Scopus, and Africa-wide databases.

Imaging of developmental delay in black African children: A hospital-based study in Yaoundé-Cameroon.

Background: The purpose of this study was to describe the anomalies observed on imaging for developmental delay in black African children.

Methods: It was a descriptive cross-sectional study, which included children aged between 1 month to 6 years with developmental delay and had done a brain MRI and/or CT scan.

Results: We included 94 children, 60.

Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa).

This study aimed to gain an understanding of the challenges faced by people with hearing impairment (HI) in Cameroon, their understanding of the causes of HI, and how challenges could be remedied to improve the quality of life of persons with HI. Semi-structured one-on-one in-depth interviews and observation of participant behaviour when answering questions were used to collect data from 10 HI professionals (healthcare workers and educationists), and 10 persons affected by HI (including caregivers). The results show that the different groups associate the causes of HI to genetics, environmental factors, and a spiritual curse.

Explanatory models for the cause of Fragile X Syndrome in rural Cameroon.

Among the myriad causes of intellectual disability (ID), Fragile X Syndrome (FXS) is the leading genetic cause. Yet, little is known of how people affected by this condition make sense of it. The present study aimed to investigate the explanatory models for the causes of FXS in an extended family mainly affected by this condition and members of the village from which they originated in Cameroon.

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.

Background: Fragile X Syndrome (FXS) is a neurogenetic condition that significantly impacts the lives of affected individuals and their families due to its association with intellectual disability (ID) and stigma.

Method: In this paper, we present the findings of an ethnographic study in the community of a patient who received a genetic diagnosis for FXS in Cameroon. This study builds on data from 28 participants of a royal family and 58 from the community who participated in 20 in-depth interviews and nine focus group discussions.

Birth weight and renal markers in children aged 5-10 years in Cameroon: a cross-sectional study.

Background: A relationship exists between birth weight (BW) and glomerular filtration rate (GFR) in postnatal kidney. Willing to fill a gap of knowledge in sub-Saharan Africa, we assessed the effect of BW on blood pressure (BP), proteinuria and GFR among Cameroonians children.

Methods: This was a cross-sectional hospital-based study from January to April 2018 at the Yaounde Gynaeco-Obstetric and Paediatric Hospital (YGOPH).

Decrease in Hospitalizations and Increase in Deaths during the Covid-19 Epidemic in a Pediatric Hospital, Yaounde-Cameroon and Prediction for the Coming Months.

The COVID-19 pandemic reached Cameroon in March, 2020. The aim of this study was to unveil the consequences of this pandemic on hospitalizations and on mortality in a pediatric hospital. : A descriptive and retrospective cross-sectional study was carried out using hospitalization and death statistics collected from a pediatric hospital.

Impact of the COVID-19 pandemic on pediatricians' clinical activity in Cameroon.

Background: The outbreak of COVID-19 has imposed many challenges on health systems. The purpose of this study was to describe the impact of the COVID-19 pandemic on the clinical activity of pediatricians.

Methods: We conducted a cross-sectional and descriptive online survey among pediatricians practicing in Cameroon.

DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.

Background: Most of the previous studies on Duchenne Muscular Dystrophy (DMD) were conducted in Caucasian, Asian, and Arab populations. Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common mutations associated with this condition in a group of Cameroonian patients.

Severe malaria in Cameroon: Pattern of disease in children at the Yaounde Gynaeco-Obstetric and Pediatric hospital.

Background And Objective: Malaria is the most widely spread parasitic disease in the world, especially in the tropics affecting mostly children and pregnant women. In children, mostly under-fives carry the heaviest burden in terms of morbidity and mortality. The aim of this study was to determine the epidemiological and clinical aspects, and outcome of children 3 months to 15 years old with severe malaria at the Yaounde Gynaeco-Obstetric and Pediatric Hospital (YGOPH), a referral hospital in Yaounde, Cameroon.

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies.

Fragile X Syndrome (FXS) is the most common x-linked monogenic cause of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Taking care of children with ID is challenging and overwhelming due to the multiple facets of caregiving. This scoping review aimed at summarizing the qualitative literature on the experiences of families living with FXS, identify key themes and determine the gaps in the extant literature.

Hearing Impairment Overview in Africa: the Case of Cameroon.

The incidence of hearing impairment (HI) is higher in low- and middle-income countries when compared to high-income countries. There is therefore a necessity to estimate the burden of this condition in developing world. The aim of our study was to use a systematic approach to provide summarized data on the prevalence, etiologies, clinical patterns and genetics of HI in Cameroon.

MECP2 duplication syndrome in a patient from Cameroon.

MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor-to-absent speech, progressive spasticity, seizures, and recurrent infections. The condition is 100% penetrant in males, with observed variability in phenotypic expression within and between families.

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family.

[Rare diseases and their clinical oral manifestations in two Hospitals in Yaoundé].

Introduction: Rare diseases have, in certain cases, oral manifestations. These are often understudied; this helps to limit oral care services to this category of patients. This study aims to determine the epidemiology and clinical features of oral manifestations in patients with rare diseases in our environment.

[Retinal manifestations of neuro-malaria or "malarial retinopathy" in Yaoundé].

Aim: Contribute to the improvement of diagnostic and prognostic approaches to treating children with neuro-malaria in Yaoundé.

Patients And Method: A prospective and analytical study carried out in 2 hospitals of Yaoundé from October 2015 to March 2016. All patients aged 3 months to 15 years hospitalized for neuro-malaria in one of the 2 hospitals benefited from a fundus examination.

Vaccination of infants aged 0 to 11 months at the Yaounde Gynaeco-obstetric and pediatric hospital in Cameroon: how complete and how timely?

Background: Vaccination is a major, but simple and cost effective public health intervention in the prevention of infectious diseases, especially in children. Nowadays, many children still miss scheduled vaccines in the Extended Program of Immunization (EPI) or are being vaccinated after the recommended ages.This study was aimed at assessing vaccination completeness and timeliness in children aged 0 to 11 months attending the vaccination clinic of the Yaounde Gynaeco-Obstetric and Pediatric Hospital.

The clinical spectrum of severe acute malnutrition in children in Cameroon: a hospital-based study in Yaounde, Cameroon.

Background: Severe acute malnutrition (SAM) is a major health problem, and the cause of more than half of childhood deaths in children less than 5 years in developing countries. Globally, 20 million children under 5 years of age are severely malnourished according to the World Health Organization (WHO). In Cameroon, the prevalence of SAM remains high and estimated at 1.

Weight-for-Height Z Score and Mid-Upper Arm Circumference as Predictors of Mortality in Children with Severe Acute Malnutrition.

Background: Mortality associated with severe acute malnutrition (SAM) could be reduced by screening malnourished children for those most vulnerable to death. We compared the weight-for-height Z score (WHZ) and mid-upper arm circumference (MUAC) as predictors of mortality in children with SAM.

Methods: We conducted a retrospective study spanning over 8 years, using records of children aged 6-59 months, hospitalized for SAM and discharged alive or who died during hospitalization.

Economic evaluation of artesunate and three quinine regimens in the treatment of severe malaria in children at the Ebolowa Regional Hospital-Cameroon: a cost analysis.

Background: Severe malaria is a leading cause of morbidity and mortality in under-fives in sub-Saharan Africa. Recently quinine has been replaced by artesunate as the first-line drug in the treatment of severe malaria in Cameroon. Artesunate has been shown to be cost-effective in African children, but whether these findings are transferable to Cameroonian children remains to be explored.

Child abuse: an underestimated health problem? A case report from Cameroon.

Physical abuse of children can be of varying nature. Children can be shaken, beaten, burnt, or cut by their parents or guardians. The incidence of trauma inflicted on children is underestimated in many countries, probably because clinical signs are misjudged, as this case report shows.

[Endomyocardial fibrosis in Cameroon: Echocardiographic and clinical description of a pediatric series in Yaoundé].

Background: Endomyocardial fibrosis is a restrictive cardiomyopathy that causes heart failure. It is characterized by the fibrotic thickening of the endocardium, sometimes involving the myocardium as well. The lesion generally lies at the apices or inflow tracts of one or both ventricles, associated with more or less severe alteration of the valves.