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

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Advances in Alzheimer's Disease 2023年第4期12卷 55-74页

作者： Théodora m. Zohoncon Joseph Sawadogo Abdoul Karim Ouattara Abdou Azaque Zoure marie N. L. Ouedraogo Paul Ouedraogo florencia W. Djigma Christelle W. m. Nadembèga Raphael Kabore Djénéba Ouermi Dorcas Obiri-Yeboah Jacques Simpore Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA) Ouagadougou Burkina Faso Faculty of medicine University Saint Thomas d’Aquin (USTA) Ouagadougou Burkina Faso Laboratoire de Biologie moléculaire H&#244pital Saint Camille de Ouagadougou (HOSCO) Ouagadougou Burkina Faso Laboratoire de Biologie moléculaire et de Génétique (LABIOGENE) Université Joseph KI-ZERBO Ouaga Burkina Département de Biochimie microbiologie Université Norbert Zongo/Centre Universitaire de Manga Koudougou Burkina Faso Department of microbiology and Immunology School of Medical Sciences University of Cape Coast Cape Coast Ghana

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 issue

关键词： Neurodegenerative Diseases Alzheimer’s Disease molecular mechanism Gene Therapy Presymptomatic Diagnosis Ethics Gene Therapy Ethics

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Detection of Human Papillomavirus DNA and E6/E7 mRNA from HPV Genotypes 16, 18, 31 and 33 in Histologically Confirmed Cases of Cervical Cancer and Precancerous Lesions in Burkina Faso

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American Journal of molecular Biology 2023年第4期13卷 276-290页

作者： Théodora mahoukèdè Zohoncon Shoukrat Ohuwa Toyin Bello Prosper Bado Rogomenoma Alice Ouédraogo Estelle Ouédraogo Ina marie Angèle Traoré Abdoul Karim Ouattara florencia Wenkunni Djigma Albert Théophane Yonli Assita Sanou-Lamien Olga mélanie Lompo Jacques Simpore Laboratoire de Biologie moléculaire et de Génétique (LABIOGENE) Université Joseph KI-ZERBO Ouagadougou Burkina Faso Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA) Ouagadougou Burkina Faso Faculté des Sciences de la Santé Université Saint Thomas d’Aquin (USTA) Ouagadougou Burkina Faso Centre Hospitalo-Universitaire Yalgado Ouedraogo Ouagadougou Burkina Faso Pathological Anatomy and Cytology Laboratory Université Joseph Ki-Zerbo Ouagadougou Burkina Faso

Introduction: Cervical cancer, caused by persistent high-risk human papillomavirus (HPV) infection, remains a global public health problem. The cellular transformation and maintenance of the malignant phenotype of these HPVs are attributed to the viral oncoproteins E6 and E7. Objective: This study aims to detect the presence of human papillomavirus DNA and E6/E7 oncoprotein mRNA of HPV genotypes 16, 18, 31 and 33 in cases of cervical cancer and precancerous lesions, histologically confirmed in Burkina Faso. methods: This descriptive cross-sectional study focused on cases of cervical cancer and high-grade intraepithelial neoplasia (CIN) and was conducted from June to December 2022. One hundred (100) samples of fixed and paraffin-embedded tissues were collected from the pathological anatomy and cytology laboratories of hospitals in the capital of Burkina Faso. High-risk human papillomavirus (HR-HPV) DNA was detected using multiplex real-time PCR, while the presence of E6 and E7 mRNA in cervical cancer and high-grade CIN samples was determined using real-time Reverse Transcriptase-PCR (RT-PCR) with Taqman probes. Results: The mean age of women diagnosed with cervical cancer and high-grade CIN was 50.81 ± 13.65 years, ranging from 22 to 82 years. Cervical cancer and high-grade CIN were positive for at least one high-risk human papillomavirus (HR-HPV) in 80% of cases. The most prevalent genotypes observed were HPV16, 18, 31, and 33, collectively accounting for 70.08% of cases. Of the 89 samples that tested positive for HR-HPV genotypes 16, 18, 31, and 33, 88 (98.88%;95% CI: [94.58 - 99.94]) were also positive for the presence of mRNA encoding the E6 and E7 oncoproteins of HPV16, 18, 31, and 33. Conclusion: In the presence of HPV DNA, testing for E6 and E7 oncoprotein mRNA could serve as a promising biomarker and valuable tool for improved assessment of the progression to cervical cancer.

关键词： HPV E6/E7 Cervical Cancer Precancerous Lesions Burkina Faso

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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

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Advances in Infectious Diseases 2022年第1期12卷 20-41页

作者： Denise P. Ilboudo W. W. Eudoxie Kévine Savadogo Théodora m. Zohoncon Estelle Savadogo Yéri Esther Hien Lassina Traore Djéneba Ouermi Wendkuuni florencia Djigma Christelle m. Nadembega marius Belemgnegre Paul Ouedraogo mahamoudou Sanou Damintoti Simplice Karou Yves Traore Jacques Simpore Laboratory of molecular Biology and molecular Genetics (LABIOGENE) UFR/SVT University Joseph KI-ZERBO Ouagadougou Burkina Faso University of Fada N’Gourma Fada N’Gourma Burkina Faso Laboratory of Biochemistry and Applied Immunology University Joseph KI-ZERBO Ouagadougou Burkina Faso Biomolecular Research Center Pietro Annigoni (CERBA) Ouagadougou Burkina Faso Université Saint Thomas d’Aquin Faculté de Médecine Ouagadougou Burkina Faso Hopital Saint Camille Ouagadougou (HOSCO) Ouagadougou Burkina Unité de Formation et de Recherche en Science De la Santé (UFR/SDS) Université Joseph KI-ZERBO (UJKZ) Ouagadougou Burkina Faso Ecole Supérieure des Techniques Biologiques et Alimentaires (ESTBA-UL) Université de Lomé Lomé Togo

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

关键词： HIV Clinical-Biological Profile Hepatitis B and C Co-Infection Burkina Faso

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CENTRAL CORNEAL THICKNESS IN WHITE AND YELLOW PATIENTS IN BRAZIL

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国际眼科杂志 2003年第1期3卷 63-64页

作者： m.Hatanaka J.A.Ferreira P.A.florencia C.morita R.Susanna-Jr. Hospital Das Clinicas da Faculdade de medicina da USP BrazilHospital Das Clinicas da Faculdade de Medicina da USP BrazilHospital Das Clinicas da Faculdade de Medicina da USP BrazilHospital Das Clinicas da Faculdade de Medicina da USP BrazilHospital Das Clinicas da Faculdade de Medicina da USP Brazil

Purpose: To determine if there is a difference in central corneal thickness (CCT) of white and yellow Brazilian patients. methods: We retrospectively compared the CCT data of yellow patients living in Brazil and white Brazilian patients. CCT was measured with an ultrasound pachymeter (Compuscan P Ultrasonic Pachymeter System model UPC 1000 ). One eye of each patient was randomly selected for statistical analysis. A two sample t

关键词：巴西白人患者黄种人患者角膜中央厚度

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Detection of Low-Risk and High-Risk Oncogenic Human Papillomavirus in Archived Tissues from ENT Tumors in Burkina Faso

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Journal of Biosciences and medicines 2023年第9期11卷 171-180页

作者： Ali Kandé maïmouna Ilboudo Djénéba Ouermi Ina marie Angèle Traore Abdoul Karim Ouattara Théodora mahoukèdè Zohoncon Esther mah Alima Traore florencia W. Djigma Dorcas Obiri-Yeboah Henriette Poaty Yvette marie Chantal Gyebre Olga m. Lompo Charlemagne mR Ouedraogo Jacques Simpore Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA) Ouagadougou Burkina Faso Laboratoire de Biologie moléculaire et de génétique (LABIOGENE) UFR/SVT Université Joseph Ki-Zerbo Ouagadougou Burkina Faso University Post Office Department of Microbiology and Immunology School of Medical Sciences University of Cape Coast Cape Coast Ghana Centre Hospitalier Universitaire Yalgado Ouedraogo Université Joseph Ki-Zerbo Ouagadougou Burkina Faso

Human papillomavirus (HPV) is classified into high-risk HPV (HR-HPV) and HPV (LR-HPV) according to their oncogenic potential. These viruses can be found in the cervix, vagina, vulva, anus and in the ENT sphere. HPV ENT infections can lead to benign or malignant tumors in which we could find both LR-HPV and HR-HPV genotypes. The objective of this study was to investigate the genotypes of HR-HPV and LR-HPV in archived tissue samples derived from both benign and malignant tumors of the ear, nose, and throat (ENT) in Ouagadougou, Burkina Faso. One hundred and twenty formalin-fixed, paraffin-embedded archived tissues of the ENT sphere from 26 benign tumors and 94 malignant tumors were included. The tissues were first deparaffinized with xylem. The extracted DNA was used to test for high-risk and low-risk HPV by Real-Time multiplex PCR. HPV DNA was found in 57.7% (15/26) of benign tumors and 43.61% (41/94) of malignant tumors. The prevalence of HPV infection was 46.67% (56/120) in all tumors combined. The most common HPV genotypes found were HPV 11 (34.28%), HPV 6 (30%), HPV56 (14.28%) and HPV 33 (8.57%). There were 21.43% (12/56) cases of genotypes co-infections with 10 cases of double infection and 2 cases of triple infection. Both low-risk and high-risk HPV are found in ENT tumors with relatively high HPV prevalence.

关键词： HPV Archived Tissues ENT Tumor Burkina Faso

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Gluten immunogenic peptide excretion detects dietary transgressions in treated celiac disease patients

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World Journal of Gastroenterology 2019年第11期25卷 1409-1420页

作者： Ana florencia Costa Emilia Sugai maría de la Paz Temprano Sonia Isabel Niveloni Horacio Vázquez maría Laura moreno m.Remedios Domínguez-Flores Alba mu?oz-Suano Edgardo Smecuol Juan Pablo Stefanolo Andrea F González Angel Cebolla-Ramirez Eduardo mauri?o Elena F Verdú Julio César Bai Small Bowel Section Department of MedicineDr.C.Bonorino Udaondo Gastroenterology HospitalBuenos Aires 1263Argentina Department of Immunology Biomedal S.L.Sevilla 41092Spain Farncombe Family Digestive Health Research Institute McMaster UniversityHamiltonON L8S4L8Canada Research Institutes Universidad del SalvadorBuenos Aires 1050Argentina

BACKGROUND Life-long removal of gluten from the diet is currently the only way to manage celiac disease(CeD). Until now, no objective test has proven useful to objectively detect ingested gluten in clinical practice. Recently, tests that determine consumption of gluten by assessing excretion of gluten immunogenic peptides(GIP) in stool and urine have been developed. Their utility, in comparison with conventional dietary and analytical follow-up strategies, has not been fully *** To assess the performance of enzyme-linked immunosorbent assay(ELISA) and point-of-care tests(PoCTs) for GIP excretion in CeD patients on gluten-free diet(GFD).mETHODS We conducted an observational, prospective, cross-sectional study in patients following a GFD for at least two years. Using the Gastrointestinal Symptom Rating Scale questionnaire, patients were classified at enrollment as asymptomatic or symptomatic. Gluten consumption was assessed twice by 3-d dietary recall and GIP excretion(by ELISA in stool and PoCTs(commercial kits for stool and urine) in two consecutive samples. These samples and dietary reports were obtained 10 day apart one from the other. Patients were encouraged to follow their usual GFD during the study *** Forty-four patients were enrolled, of which 19(43.2%) were symptomatic despite being on a GFD. Overall, 83 sets of stool and/or urine samples were *** out of 44 patients(25.0%) had at least one positive GIP test. The occurrence of at least one positive test was 32% in asymptomatic patients compared with 15.8% in symptomatic patients. GIP was concordant with dietary reports in 65.9% of cases(Cohen′s kappa: 0.317). PoCT detected dietary indiscretions. Both ELISA and PoCT in stool were concordant(concomitantly positive or negative) in 67 out of 74(90.5%) samples. Excretion of GIP was detected in 7(8.4%) stool and/or urine samples from patients considered to be strictly compliant with the GFD by dietary *** GIP dete

关键词： Celiac disease Follow-up Gluten-free diet Gluten immunogenic peptide excretion Rapid tests

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Helicobacter pylori Virulence Genes cagA, babA2, and vacA Detection in Dyspeptic Patients from Burkina Faso

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American Journal of molecular Biology 2023年第3期13卷 141-155页

作者： Tegwinde Rebeca Compaore Kalifou Traore Nômawendé Ines Compaore Lassina Traore Sylvie Zida Serge Theophile Soubeiga Dinanibe Kambire Jean Claude R. P. Ouedraogo Aminata Dickel Sidibe Yasmine Astrid Sana Tani Sagna Wendkuuni florencia Djigma Henri Gautier Ouedraogo Jacques Simpore Département Biomédical et Santee Publique Institut de Recherche en Sciences de la Santé (IRSS) Ouagadougou Burkina Faso Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA) Ouagadougou Burkina Faso Laboratoire de Biologie et de Génétique moléculaire (LABIOGENE) Université Joseph KI-ZERBO Ouagadougou Burkina Faso Clinique El Fateh-Suka Service de médecine et de spécialités médicales Ouagadougou Burkina Faso Département de médecine et de Pharmacopée Traditionnelle Institut de Recherche en Sciences de la Santé (IRSS) Ouagadougou Burkina Faso

The diverse clinical presentation of Helicobacter pylori (H. pylori) infection results from the interaction between bacterial virulence, host genetics, socio-demographic and environmental factors. This study aimed to characterize Helicobacter pylori virulence genes and the associated behavioral factors among dyspeptic patients in Burkina Faso. Two hundred and fifty (250) stool samples were collected from patients with dyspepsia seen at health centers in Ouagadougou, Burkina Faso. Bacterial deoxyribonucleic acid (DNA) was extracted using a commercial kit. Virulence genes were detected using conventional multiplex Polymerase Chain Reaction with specific primers. The overall prevalence of Helicobacter pylori of the 250 participants was 91.20%. CagA virulence gene was present among 20.19% of individuals, while babA2 and vacA were detected respectively among 9.65% and 67.54% of the population positive for Helicobacter pylori. Among vacA subtypes, vacAs1 was the most frequent, with 39.04%, followed by vacAi1 (19.74%), vacAi2 (17.54%), and vacAs2 with 10.96%. Regarding vacAm1 and vacAm2, they were less frequent at 6.14% each. “Handwashing three times or less per day” significantly increased the risk of having vacAi2 allele and H. pylori rRNA16s, with p-values of 0.013 and 0.020, respectively. The consumption of non-tap water increases the risk of carrying the cagA virulence gene. Additionally, H. pylori-positive patients living with more than four (4) people in their household had about two times the risk of having the vacAs1 allele. The present study shows the detection of Helicobacter pylori cagA, vacA subtypes, and babA2 by stool a PCR method in Burkina Faso. The strong association between sanitary habits and virulence factors depicts the composite interaction between ecological factors, gastric mucosa, and bacteria. Therefore, the synergic action of these factors should be considered when aiming for bacterial eradication and gastric pathology cure.

关键词： Helicobacter pylori Stool cagA babA2 vacA

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Human Immunodeficiency Virus Prevention among HIV-Serodiscordant Couples in Burkina Faso: Biomedical Issues, Bioethical and Cultural Challenges

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World Journal of AIDS 2011年第4期1卷 185-191页

作者： Jacques Simpore Eveline Compaore Joseph Sawadogo florencia Djigma Djeneba Ouermi marina martinetto Virginio Pietra Fernando Fabó Henk A.m.J. ten Have Alberto García 不详

Context: In Burkina Faso, there are young HIV-serodiscordant partners who want to get married and wish to procreate. Objectives: The purpose of this research was: 1) to assess the sexual behaviour of young people in Burkina Faso, 2) to estimate their knowledge about the modes of HIV transmission, 3) to appreciate the cultural reasons of the desire to procreate among HIV serodiscordant couples and 4) to draw some bioethical lessons. methods: From April to Septemr 2009, the survey on HIV and reproductive health in Burkina Faso carried out with 815 young people. Among them, 407 were females and 408 males (average age: 23.59 ± 2.99). They have voluntarily agreed to answer a questionnaire which gave the following results. Results: This study shows that young people in Burkina Faso had their first sexual intercourse at 18.99 ± 2.76 years, 23.68% (193/815) were afraid to be tested for HIV, 30.92% (252/815) have not yet been tested for HIV-serostatus and 39.75% (324/815) of them have never heard of HIV vertical transmission. Despite the fact that 36.81% (300/815) are HIV negative, they would be willing to marry the beloved HIV positive person and amongst them, 28.34% (231/815) want a child even with an HIV positive person beloved. Conclusion: So far, there is no effective vaccine against HIV. However, it is clear that Highly Active Anti-Retroviral Therapy (HAART) associated with ethical and cultural good options can contribute to reduce the spread of HIV in Sub-Saharan Africa.

关键词： AIDS HIV-Serodiscordant Couple PmTCT Procreation Tradition Burkina Faso

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Epidemiological and Clinical Aspects of Acne in the Dermatology Department of the Teaching Hospital of Parakou (Benin)

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Journal of Cosmetics, Dermatological Sciences and Applications 2014年第3期4卷 129-134页

作者： Hugues Adégbidi Christiane Koudoukpo Félix Atadokpèdé florencia do Ango-Padonou Hubert G. Yédomon Faculté de médecine de Parakou Université de Parakou Parakou Bénin Faculté des Sciences de la Santé de Cotonou Université d’Abomey-Calavi Cotonou Bénin

Introduction: Acne is an affection that concerns 80% of young people in the world with a significant impact on their quality of life. The purpose of this study was to determine the epidemiological and clinical aspects of the acne in the Dermatology Department of the Teaching Hospital of Parakou (THP). Patients and methods: We achieved a cross sectional study carrying on 167 files collected on a 20-month period in the Dermatology Department of the THP. Results: The prevalence of the acne was 31.21%. Female subjects represented 69.46%. Vulgaris acne was the most prevailing clinical form (47.30%). A peak of frequency was noted in the age bracket of 21 - 25 years in the 2 sexes. The lesions were mainly located on the face (82.63%). Some factors influencing the eruption have been evoked by the patients notably: foods, cosmetics products and stress respectively to 41.00%, 33.33% and 25.67%. Conclusion: Our study allowed confirming the female ascendancy of acne. Besides, the adults are more represented, precisely women because of depigmenting practice. It seems in favor of an influence of the food in the intervening of the acne. Vulgaris acne was the predominant clinical form as described in literature.

关键词： Acne Epidemiology Foods

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Distribution of High-Risk Human Papillomavirus Genotypes in Precancerous Cervical Lesions in Ouagadougou, Burkina Faso

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Open Journal of Obstetrics and Gynecology 2016年第4期6卷 196-204页

作者： Charlemagne Ouédraogo Théodora mahoukèdè Zohoncon Esther m. A. Traoré Souleymane Ouattara Prosper Bado Clarisse T. Ouedraogo florencia W. Djigma Djénéba Ouermi Dorcas Obiri-Yeboah Olga Lompo Simon A. Akpona Jacques Simpore Pietro Annigoni Biomolecular Research Center (CERBA) Ouagadougou Burkina Faso UFR/SDS University of Ouagadougou Ouagadougou Burkina Faso Laboratory of molecular Biology and Genetics (LABIOGENE) University of Ouagadougou Ouagadougo Burkina Faso Teaching and Research Unit in Biochemistry and molecular Biology Faculty of Medicine University of Parakou Parakou Republic of Benin Faculty of medicine Université Saint Thomas d’Aquin Ouagadougou Burkina Faso University of Cape Coast School of Medical Sciences Microbiology Department University Post Office Cape Coast Ghana Yalgado Ouédraogo University Hospital (CHU/YO) Ouagadougou Burkina Faso

Aims: We aimed at identifying the high-risk HPV genotypes associated with high-grade dysplastic cervical lesions in Burkina Faso. The available vaccines to Burkina Faso only protect against two high risk HPV genotypes: HPV 16 and 18. Are the genotypes identified in the high-grade precan-cerous lesions in this survey covered by the available vaccines? methods: The detection and genotyping of high-risk HPV have been conducted based on 118 formalin-fixed and paraffin-embedded archived tissues using the “HPV Genotypes 14 Real-Tm Quant” (Sacace biotechnologies®, Italy) kit allowing for the detection of fourteen high-risk HPV genotypes: HPV 16, 31, 18, 39, 45, 59, 33, 35, 56, 68, 51, 52, 58 and 66. Results: The prevalence of high-risk HPV infections was 48.8% based on the appropriate PCR results (21/43). The most common HPV genotypes were HPV 39 (21.7%), HPV 35 (13.0%) and HPV 45 (13.0%). Two cases of multiple infections between HPV 39 - 45 and HPV 39 - 59 have been observed. HPV 16 was not detected in this study. Conclusions: We noted a high prevalence rate for HPV 39, HPV 35 and HPV 45, which are not covered by the commercial vaccines. We also found that the prevalence of HPV 18 was very low in this study and HPV 16 was not detected.

关键词： HPV Cancer CIN Cervix Burkina Faso

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