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PLCG2 Mutation in a Patient Presenting with Type 2 Autoimmune Hepatitis

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Journal of Clinical and Translational Hepatology 2024年第7期12卷 685-687页

作者： Antoine Gardin Léa Gaigne aude Magérus Frédéric Rieux-Laucat Emmanuel Jacquemin Pediatric Hepatology and Liver Transplantation Unit National Reference Centre for Inflammatory Diseases of the Bile Ducts and Autoimmune HepatitisFILFOIEERN RARE LIVERBicêtre HospitalAssistance Publique–Hôpitaux de ParisUniversity Paris-SaclayLe Kremlin-BicêtreFrance INSERM UMR 1193 HepatinovParis-Saclay UniversityOrsayFrance Laboratory of Immunogenetics of Pediatric Autoimmune Diseases INSERM UMR 1163Imagine InstituteParis CitéUniversityParisFrance

The combination of defective immune tolerance and external triggers is thought to underlie the pathophysiology of autoimmune hepatitis.1,2 Some polymorphisms associated with susceptibility to autoimmune hepatitis have been reported,and some cases have been described in patients with monogenic primary immune deficiencies or systemic diseases.

关键词： autoimmune Autoimmune immune

Epidemiological Aspects of Stillbirth and Neonatal Deaths in the Delivery Room at the Libreville Mother-Child University Hospital from 2019 to 2022

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Open Journal of Pediatrics 2024年第1期14卷 1-10页

作者： Eliane Kuissi Kamgaing Jacques Albert Bang Ntamack Opheelia Makoyo Komba Raïssa Koumba Maniaga Steeve Minto’o Rogombe Pascal Loulouga Badinga aude Lembet Mikolo Simon Ategbo Department of Neonatal Medicine Jeanne Ebori Foundation Mother-Child University Hospital (JEFMCUH) of Libreville Libreville Gabon Department of Gynaecology and Obstetrics Jeanne Ebori Foundation (JEFMCUH) of Libreville Libreville Gabon Department of Paediatrics University of Health Sciences Libreville Gabon

Introduction: Stillbirths are estimated at 2 million each year, of which more than 40% occur during labour. Our objective was to study the epidemiological aspects of stillbirth and neonatal deaths in the delivery room in our health facility. Patients and methods: Prospective, descriptive and analytical study, conducted at the Jeanne Ebori Foundation Mother-Child University Hospital over 4 years (January 2019-December 2022). All neonatal deaths in the delivery room or foetal death in utero, were included. Results: Among the 18,346 deliveries performed, 512 newborns were declared dead in the delivery room (27.9‰ live births), divided into in utero foetal death (19.0‰) and immediate neonatal death (8.9‰). The mean age was 34.3 weeks of amenorrhea. The rate of preterm birth was 60.4%. The sex ratio was 1.1. The average weight was 2186.6. The main causes were vascular (46.1%), foetal (20.2%), adnexal (17.1%) and asphyxia per partum (16.6%). Foetal causes were more likely to result in IUFD than other causes (OR = 6.4 [2.4 - 15.7], p < 0.001). After birth, partum asphyxia was more likely to lead to death before 15 minutes of life than other causes (OR = 11 [6.1 - 18.9], p Conclusion: The causes of stillbirth and early neonatal mortality are dominated by maternal vascular pathologies. However, the proportion of childbirth-related causes remains worrying. Better monitoring of pregnancy and labour will minimize this prevalence in our hospital.

关键词： Stillbirth Neonatal Death Delivery Room Epidemiology Libreville-Gabon

Assessment of the Vaccination Status of Children Aged 6 to 30 Months in a Tertiary Level Health Care Center in Côte d’Ivoire

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Open Journal of Pediatrics 2024年第3期14卷 536-546页

作者： Yenan John Patrick Kpangni Jean Bertrand Yao Kouassi Christian Yeboua Yao Kossonou Roland Aka-Tanoh Koko aude Hélène Avi-Siallou Christelle Honorine Asse Kouadio Vincent Department of Pediatrics University Teaching Hospital of Bouake Bouake Ivory Coast Unit Pediatric Surgery University Teaching Hospital of Bouake Bouake Ivory Coast

Introduction: Vaccination coverage in Côte d’Ivoire over the period 2011 to 2015 was below the target of 95% for all antigens. The objective of this study was to analyze the vaccination status of children aged 6 to 30 months with a view to improving vaccination coverage. Patients and Methods: This was a descriptive cross-sectional study which took place from June to September 2018 in a tertiary health center, focusing on children aged 6 to 30 months with a correctly completed health record. The parameters studied were sex, age, educational level of mothers, dates of vaccine administration and reason for missed vaccination opportunities. Results: We retained 212 children. The sex ratio was 1.21 and 93% had received the BCG vaccine before the age of 1 month. The average ages of combined and co-administered vaccines for the 1st and 2nd doses were 7.66 ± 3.81 and 12.88 ± 3.95 weeks, respectively. The median was 16.57 weeks for the 3rd dose. The proportion of vaccinated subjects was greater than 90% for the BCG vaccine and the 3 doses of combined vaccines, and 77% for the yellow fever and measles vaccines. The reasons for non-vaccination were attributable to the children’s parents and health facilities. Conclusion: Improving vaccination coverage requires regular supply of vaccines to centers, and the involvement of all health professionals, community and religious leaders in the vaccination awareness process.

关键词： Children Vaccination Coverage Missed Opportunities

Psychological Experience of Mothers of Children with Sickle Cell Disease Followed at the Pediatric Department of Bouaké University Teaching Hospital

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Open Journal of Pediatrics 2024年第1期14卷 149-163页

作者： Akanji Iburaima Alamun Aka-Tanoh Koko aude Hélène Yao Kouassi Christian Adou Leioh Romeo Sahi Gnantin Josette Landryse Amani Ehi Alexise Eleonore Boune Aboulaye Asse Kouadio Vincent Paediatrics Department Bouaké University Teaching Hospital Bouaké C&#244te d’Ivoire

Introduction: Sickle cell disease has physical and emotional repercussions on the child and his family. The aim of this study was to describe the psychosocial experiences of mothers of children with sickle cell disease in order to improve the overall care of the child. Methods: This was a descriptive cross-sectional study carried out in the pediatrics department of Bouaké University Teaching Hospital from June to September 2023. It focused on mothers of major sickle-cell-affected children followed up in the pediatrics department of the Bouaké University Teaching Hospital. The variables studied were sociodemographic, psychological, social and economic. Results: Of the 40 mothers surveyed, 15% were not in school and 32.5% were unemployed. For them, sickle cell disease was of natural (genetic) origin in 90% and supernatural in 10%. They stated that the child had an average age of 36 months (extremes 7 and 108 months) when the disease was discovered. And 52% of them were satisfied with the way the disease was clearly and completely announced. Following the announcement, the questioned mothers said they had felt shock (35%), sadness (31.7%), guilt (23.3%) and discouragement (10%). Anxiety and depression were experienced by 77.5% and 22.5% respectively. In 60% of cases, they stated that the disease was incurable, and the outcome was fatal in 2.5% of cases. The child’s illness was a source of problems in the home in 25% of cases, represented by arguments in 92% and divorce in 8%. In 97.5% of cases, the mother told her family and friends about the child’s illness. In 90% of cases, the mother and child benefited from psychological support from family and friends. Conclusion: Sickle cell disease is a serious illness with a psychological and social impact on mothers. We recommend psychological support for mothers from the moment of diagnosis and throughout follow-up.

关键词： Psychosocial Experience Sickle Cell Disease Côte d’Ivoire

Relationship between the rs2241766 ADIPOQ Polymorphism in a Black African Population and the Occurrence of Type 2 Diabetes

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American Journal of Molecular Biology 2024年第2期14卷 97-106页

作者： aude Syntia Mbang Bengone Rosalie Nikiema-Ndong Elisabeth Lendoye Alvine Sibylle Batou Edwige Nnegue Edzo Serge Bekale Daniela Nsame Frédéric Da Dari Félix Ovono Abessolo Department of Chemistry-Biochemistry Faculty of Medicine University of Health Sciences Libreville Gabon Laboratory of Research in Biochemistry (LAREBIO) University of Sciences and Technology of Masuku Franceville Gabon Endocrinology Department University Hospital of Libreville Libreville Gabon Research Institute of Health Sciences Bobodioulasso Burkina Faso

Background: Type 2 diabetes mellitus (T2DM) is a metabolic disease, characterized by chronic hyperglycemia. This pathology is linked to various genes whose interaction with the environment promotes its development. The aim of this work was to determine the relationship between the rs2241766 (T/G) polymorphism of the ADIPOQ gene with type 2 diabetes in the black population. Material and Methods: This work was a case-control study, involving type 2 diabetics subjects (n = 94) and controls (n = 82). The study took place from September 2022 to September 2023. Patients were recruited in the Endocrinology Department of the Libreville University Hospital Center. Analysis was performed in the Biochemistry laboratory of the University of Health Sciences in Libreville and at the Research Institute of Health Sciences of Bobodioulasso. Genomic DNA was extracted using the protocol Qiagen kit and the PCR-RFLP method was used to determine the rs2241766 (T/G) polymorphism of the ADIPOQ gene. Results: Only 2 genotypes were found in this population, the TT genotype and the GT genotype. The proportions were not different between the two groups (p = 0.1095) neither the distribution of G and T alleles (p = 0.1095). On the other hand, the HDL hypocholesterolemia was frequent in subjects with the GT genotype compared to TT heterozygous (51.1% vs 48.9%, p = 0.0280;OR = 0.55 [0.30 - 1.01]). Conclusion: There was no association between the rs2241766 (T/G) variant of the ADIPOQ gene and the occurrence of type 2 diabetes in this population. On the other hand, a relationship between HDL hypocholesterolemia and the GT genotype has been established.

关键词： Type 2 Diabetes Mellitus Polymorphism rs2241766 ADIPOQ PCR-RFLP

No-go decay as a novel route to restrict viral infection in plants

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Molecular Plant 2023年第3期16卷 509-510页

作者： aude Poucleti Dominique Gagliardil Damien Garcia institut de Biologie Moleculaire des Plantes CNRSUniversite de Strasbourg StrasbourgFrance

Plants use several layers of defense to detect and combat viruses(Figure 1).Specialized host-encoded receptors sense viral virulence effector proteins and induce a signal transduction cascade,leading to effector-triggered immunity(Lopez-Gomollon and Baulcombe,2022).Plants also use several RNA-based processes to seek and destroy viral *** major pathway restricting viral multiplication is RNA silencing,a widely conserved mechanism of gene extinction that uses dsRNA to produce 21 to 24 nucleotides small interfering RNAs and guide viral RNA degradation(Lopez-Gomollon and Baulcombe,2022).

关键词： immunity restrict infection

Effects of meteorological conditions and topography on the bioaccumulation of PAHs and metal elements by native lichen(Xanthoria parietina)

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Journal of Environmental Sciences 2021年第11期33卷 193-205页

作者： Julien Dron aude Ratier Annabelle Austruy Gautier Revenko Florence Chaspoul Emmanuel Wafo Institutécocitoyen pour la Connaissance des Pollutions Fos-sur-MerFrance Aix Marseille Université Avignon UniversitéCNRS UMR-7263IRD-237IMBEMarseilleFrance Aix Marseille Université INSERM U-1261SSAIRBAMCTMarseilleFrance Universitéde Lyon UniversitéLyon 1CNRS UMR-5558LBBEVilleurbanneFrance

The bioaccumulation of PAHs and metal elements in the indigenous lichens Xanthoria parietina was monitored during two years at a quarterly frequency,in 3 sites of contrasted anthropic *** impact of the meteorological factors(temperature,relative humidity,rainfall,wind speed)was first estimated through principal component analysis,and then by stepwise multilinear regressions to include wind *** pollutants levels reflected the proximity of atmospheric emissions,in particular from a large industrial *** humidity and mild temperatures,and in a lower extent low wind speed and rainfall,also favored higher concentration *** contributions of these meteorological aspects became minor when including wind direction,especially when approaching major emission *** bioaccumulation integration time towards meteorological variations was on a seasonal basis(1–2 months)but the wind direction and thus local emissions also relied on a longer time scale(12 months).This showed that the contribution of meteorological conditions may be prevalent in remote places,while secondary in polluted areas,and should be definitely taken into account regarding long-term lichen biomonitoring and inter-annual *** the same time,a quadruple sampling in each site revealed a high homogeneity among supporting tree species and *** resulting uncertainty,including sampling,preparation and analysis was below 30%when comfortable analytical conditions were ***,the occurrence of unexpected events such as a major forest fire,permitted to evaluate that this type of short,although intense,events did not have a strong influence on PAH and metals bioaccumulation by lichen.

关键词： Indigenous lichen Biomonitoring Climate Seasonal impacts Sampling uncertainties Integration time

Host evolution in Mastomys natalensis(Rodentia:Muridae):An integrative approach using geometric morphometrics and genetics

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Integrative Zoology 2015年第6期10卷 505-514页

作者： aude LALIS Allowen EVIN Marc JANIER Lamine KOIVOGUI Christiane DENYS UMR 7205 Institute of Systematic Evolution and Biodiversity(ISYEB)National Museum of Natural History CNRSSorbonne UniversitiesParisFrance Institute of Evolutionary Sciences-Montpellier(ISEM) University of MontpellierCNRSIRDEPHEMontpellierFrance Department of Archaeology University of AberdeenAberdeenUK Plateforme ANIMAGE-CREATIS Faculty of Medicine Lyon-EstClaude Bernard University Lyon 1LyonFrance National Institute of Public Health Guinea CHU DonkaConakryGuinea

The commensal rodent Mastomys natalensis is the natural reservoir of Lassa arenavirus(LASV),which causes hemorrhagic fever in West *** study a possible effect of the virus on phenotypic and genotypic variation of its persistently infected host,we compared LASV-positive and non-infected wild-caught *** LASV effects on the phenotypic variation were explored using standard external morphometric measurements,geometric morphometric analyses of the cranial size and shape,and brain case *** genetic variability of *** specimens was assessed using 9 polymorphic microsatellite *** of sex and age,LASV-infected animals had smaller external body measurements,reproductive organs,skull size and brain case *** shape differences between the 2 groups are represented by a lateral constriction of the entire *** genetic variability revealed consanguinity only among the LASV-positive *** hypothesize that growth impairment may result in a selective disadvantage for LASV-infected ***,leading to a preferably commensal lifestyle in areas where the LAVS is endemic and,thereby,increasing the risk of LASV transmission to humans.

关键词： host evolution genetic diversity inbreeding skull shape variation

Plant infection by two different viruses induce contrasting changes of vectors fitness and behavior

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Insect Science 2019年第1期26卷 86-96页

作者： Quentin Chesnais aude Couty Maryline Uzest Veronique Brault Arnaud Ameline FRE CNRS 3498 EDYSAN (Ecologie et Dynamique des Systemes Anthropises) Universite de Picardie Jules Veme33 rue St Leu80039 Amiens CedexFrance INRA UMR 0385 BGPICIRAD-INRA-Montpellier SupAgroTA A541KCampus International de Baillarguet34394 Montpellier Cedex 5France UMR 1131 SVQV INRA-UDS28rue de Herrlisheim68021 Colmar CedexFrance

Insect-vectored plant viruses can induce changes in plant phenotypes,thus influencing plant-vector interactions in a way that may promote their dispersal according to their mode of transmission (i.e.,circulative ***).This indirect vector manipulation requires host-virus-vector coevolution and would thus be effective solely in very specific plant-virus-vector species *** studies suggest this manipulation may depend on multiple factors relative to various intrinsic characteristics of vectors such as transmission *** anintegrative study,we tested the effects of infection of the Brassicaceae Camelina sativa with the noncirculative Cauliflower mosaic virus (CaMV)or the circulative Turnip yellows virus (TuYV)on the host-plant colonization of two aphid species differing in their virus transmission efficiency:the polyphagous Myzus persicae,efficient vector of both viruses,and the Brassicaceae specialist Brevicoryne brassicae,poor vector of TuYV and efficient vector of *** confirmed the important role of virus mode of transmission as plant-mediated effects of CaMV on the two aphid species induced negative alterations of feeding behavior (i.e.,decreased phloem sap ingestion)and performance that were both conducive for virus fitness by promoting dispersion after a rapid *** addition,virus transmission efficiency may also play a role in vector manipulation by viruses as only the responses of the efficient vector to plant-mediated effects of TuYV,that is,enhanced feeding behavior and performances,were favorable to their acquisition and further ***,this work demonstrated that vector transmission efficiency also has to be considered when studying the mechanisms underlying vector manipulation by *** results also re- inforce the idea that vector manipulation requires coevolution between plant,virus and vector.

关键词： aphid vector Cauliflower mosaic virus electrical penetration graph host-plant selection life history traits Turnip yellows virus