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 r...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.展开更多
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 EN...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.展开更多
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...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”.展开更多
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...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<sup>®</sup>, 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.展开更多
文摘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.
文摘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.
文摘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”.
文摘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<sup>®</sup>, 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.
