Neonatal Morbidity and Mortality at Hospital Saint Camille de Ouagadougou (HOSCO): A Study from 2017 to 2020

Introduction: Neonatal pathology remains a real public health problem in developing countries. In Burkina Faso, this mortality has declined over the last ten years but remains below compared to the Sustainable Development Goals, which is 12 per 1000 living births at most by 2030. This study aims to identify specific causes of neonatal morbidity and mortality and will contribute to the implementation of preventive and curative measures aimed at reducing neonatal mortality at HOSCO. Method: This was a retrospective study using the records and database of newborns hospitalized from January 1srt, 2017 to December 31srt, 2020. Using logistic regression, the factors associated with mortality were determined. Results: During the study period, 3020 newborns were hospitalized. Most newborns (83.71%) were referred by a peripheral health facility. The average age at admission was 0.3 days ± 0.9 and the sex ratio was 1.2. Prematurity was the leading cause of hospitalization (61.13%) followed by neonatal infection (38.34%) and neonatal suffering (23.88%). The mortality rate was 40.6% with 82.71% cases of death in the early neonatal period. The main causes of death were low birth weight (47.39%), respiratory distress (18.76%), neonatal suffering (17.37%) and neonatal infection (13.87%). Home delivery, gestational age 36 weeks, number of PNC 4, concept of resuscitation, Apgar at the 5th minute 7, birth weight 2000 g and >4000 g, respiratory distress, hypothermia, neurological disorders were factors associated with deaths. Conclusion: Neonatal mortality is influenced by both maternal and fetal factors and many of them are preventable.

Presymptomatic Diagnosis and Gene Therapy for Alzheimer’s Disease: Genomic, Therapeutic, and Ethical Aspects—A Systematic Review

Over the past three decades, genomic and epigenetic sciences have identified more than 70 genes involved in the molecular pathophysiology of Alzheimer’s disease (AD). DNA methylation, abnormal histone and chromatin regulation and the action of various miRNAs induce AD. The identification of mutated genes has paved the way for the development of diagnostic kits and the initiation of gene therapy trials. However, despite major advances in neuroscience research, there is yet no suitable treatment for AD. Therefore, the early diagnosis of this neurodegenerative disease raises several ethical questions, including the balance between the principle of non-maleficence and the principle of beneficence. The aims of this research were to present the genomic and ethical aspects of AD, and to highlight the ethical principles involved in its presymptomatic diagnosis and therapy. A systematic review of the literature in PubMed, Google Scholar and Science Direct was carried out to outline the genomic aspects and ethical principles relating not only to the presymptomatic diagnosis of AD, but also to its gene therapy. A total of 16 publications were selected. AD is a multifactorial disease that can be genetically classified into Sporadic Alzheimer’s Disease and Familial Alzheimer’s Disease based on family history. Gene therapy targeting specific disease-causing genes is a promising therapeutic strategy. Advancements in artificial intelligence applications may enable the prediction of AD onset several years in advance. While early diagnosis of AD may empower patients with full decision competence for early decision-making, it also carries implications for the patient’s family members, who are at risk of developing the disease, potentially becoming a source of confusion or anxiety. AD has a significant impact on the life of individuals at risk and their families. Given the absence of disease modifying therapy, genetic screening and early diagnosis for this condition raise ethical issues that must be carefully considered in the context of fundamental bioethical principles, including autonomy, beneficence, non-maleficence, and justice.

Gene therapy for Parkinson’s Disease and Ethical Challenges: A Systematic Review

Background: Parkinson’s disease (PD) is a complex, multifactorial neurodegenerative disorder with a pathophysiology deriving from the synergy of abnormal aggregation of neuroinflammation, synuclein and dysfunction of lysosomes, mitochondria and synaptic transport difficulties influenced by genetic and idiopathic factors. Worldwide, PD has a prevalence of 2-3% in people over the age of 65. To date, there is no certified, effective treatment for PD. Aim: The aims of this research were: (i) to present, on the basis of recent advances in molecular genetics and epigenetics, the genomic aspects and challenges of gene therapy trials for PD;(ii) to outline the ethical principles applicable to therapeutic trials for PD. Method: A systematic literature review was carried out to identify relevant articles reporting on genomic aspects and gene therapy in PD from 2001 to October 2023. The search was conducted in French and/or English in three databases: PubMed, Google Scholar and Science Direct. PRISMA guidelines were used in this systematic review. Results: A total of thirty-three publications were selected. An inductive thematic analysis revealed that numerous genetic mutations (SNCA, Parkin, PINK1, DJ-1, LRRK2, ATP13A2, VPS35, Parkin/PRKN, PINK1, DJ1/PARK7) and epigenetic events such as the action of certain miRNAs (miR-7, miR-153, miR-133b, miR-124, miR-137) are responsible for the onset of PD, and that genetic therapy for this pathology raises ethical questions that need to be elucidated in the light of the bioethical principles of autonomy, beneficence, non-maleficence and justice. Conclusion: There is no zero risk in biotechnology. Then, it will be necessary to assess all the potential risks of Parkinson disease’s gene therapy to make the right decision. It is therefore essential to pursue research and, with the guidance of ethics, to advance treatment options and meet the challenges of brain manipulation and its impact on human identity. The golden rule of medicine remains: “Primum non nocere”.

Evolution of HBV Viral Load during Clinical and Biological Follow-Up of Chronic Hepatitis B Patients at the Saint Camille Hospital in Ouagadougou

Hepatitis B virus (HBV) infection is a major public health problem worldwide. The aim of this study was to document the dynamics of HBV viral load during the follow-up of chronic hepatitis B patients at the Saint Camille Hospital in Ouagadougou (HOSCO) from 2017 to 2021. This descriptive retrospective study was carried out in the Hepato-Gastro-Enterology Department of HOSCO and focused on patients who were undergoing treatment for chronic viral hepatitis B. A total of 260 cases of chronic hepatitis B were included in the study. The most affected age group was 21 to 30 years, accounting for 48.08% of the cases. Lifestyle factors included alcohol consumption (3.08%) and tobacco use (2.69%). Major risk factors for transmission included lack of vaccination (98.46%), family history of HBV infection (68.00%) and engagement in high-risk activities (28.00%). Patients requiring treatment were prescribed Tenofovir 300 mg tablets. FibroScan® showed the presence of stage F3-F4 fibrosis (2.14%) and S3 steatosis (13.33%). After one year of follow-up, 6.92% of patients achieved an undetectable viral load with normalized transaminase levels. The majority of other patients had a detectable viral load but below 20,000 IU/mL. The prevalence of viral hepatitis B remains significant worldwide. Although effective and well-monitored treatment can lead to undetectable viremia, prevention remains the most effective strategy for successful management of this disease.

Hepatitis B and C Immunological and Molecular Parameter Analysis in HIV-Positive Patients Undergoing Antiretroviral Therapy at Saint Camille Hospital in Ouagadougou (HOSCO), Burkina Faso

Knowledge of the clinical and biological profile of patients infected with HIV and hepatitis B and/or C is essential in order to identify and implement effective management strategies. Methods: This was a retrospective descriptive study from January 01, 2016 to June 01, 2021. Adult patients aged at least 18 years infected with HIV type 1 and/or 2, na?ve to ARV treatment. Univariate analyses were assessed using Pearson’s Chi2 test. The Student Newman test was used for comparison between groups using R software version 4.0.2. Objective: To draw up the epidemiological, clinical, paraclinical and evolutionary profiles of HIV-treated-patients in relation to HIV/HBV and HIV/HCV co-infections in order to allow the identification and the implementation of effective management strategies. Results: Of the 379 patients included 280 (73.88%) were women. At treatment initiation, the mean age was 40.14 ± 11.84 years. The majority of patients consulted at WHO stage III (51.45%). Clinical suspicion was the most frequent screening circumstance (51.71%). The pathologies frequently reported at the first consultation were diarrhea (28%) and shingles (16%). Body mass index was normal in 50.5% of patients. HIV1 infection was the majority (91.03%). A total of 270 had a CD4 count at treatment initiation. The mean CD4 cell count was 304.17 ± 242.06 cells/μL, and 116 (42.59%) of them had a CD4 ≤ 200 cells/μL. Viral load at treatment initiation was documented in 62 patients (16.35%) and 70.97% of them had a detectable viral load (greater than 1000 copies/mL). The clinical and biological evolution was relatively good in patients after therapeutic initiation. HIV-HBV co-infection was 24.11% and HIV-HCV co-infection was 2.26%. The mortality rate was 3.69%. Conclusion: These results reflect a significant delay in HIV infection diagnosis. Furthermore, hepatitis B and/or C is co-infections that increasingly affect people living with HIV. It also appears that COVID 19 disease has had a strong impact on patient management. Thus, new screening strategies must be implemented to encourage early diagnosis of HIV, hepatitis B and C. Effective strategies are also necessary to fight HIV in the context of epidemics and/or pandemics.

Incidence of Sickle Cell Disease and Other Hemoglobinopathies in Burkina Faso: Results of a Five-Year Systematic Neonatal Screening (2015-2019) in Four Urban Hospitals

Hemoglobinopathies, mainly Sickle cell disease (SCD), are the most common monogenic disorders in Africa. In Burkina Faso, data on these diseases are scarce, mainly hospital-based in Ouagadougou and its surroundings. In order to assess the incidence and allelic frequencies of the main hemoglobinopathies in newborns in Burkina Faso, we conducted a cross-sectional study from 2015 to 2019 in four hospitals. The study included babies of both sexes, regardless of ethnic group and parents’ hemoglobin status. It was a newborn screening and hemoglobin variants were detected using isoelectric focusing on cord blood samples and confirmed using hemoglobin electrophoresis by high-performance liquid chromatography. The proportions and cumulative incidences of the different hemoglobinopathies were computed. Hardy-Weinberg equilibrium law was applied to calculate genotypic and allelic frequencies. The significant level was p < 0.05. Out of 11,337 newborns included, 47.8% were males and 60.2% were from Bobo-Dioulasso. Abnormal hemoglobin was found in 27.1%, representing a cumulative incidence of 1:4 newborns. The incidence of SCD was 1.9% (1:53 newborns) with 27.9% of homozygous SS. Homozygous CC and compound heterozygous Cβ-Thalassemia accounted for 1.1%. SCD cases were 1.51 times higher in Bobo-Dioulasso (OR = 1.51;95% CI [1.09 - 2.10]: p = 0.013). The observed genotype frequencies were significantly different from the expected ones (p 0.001). The βS and βC alleles represented 5.1 and 9.9%, respectively. This study showed a high incidence of hemoglobinopathies. Such results raise the question of control strategies for these hemoglobinopathies in our country.