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Automated Behavioral Phenotyping Reveals Presymptomatic Alterations in a SCA3 Genetrap Mouse Model

Journal of Genetics and Genomics 2012年第6期39卷 287-299页

作者： jeannette hübener Nicolas Casadei Peter Teismann Mathias W. Seeliger Maria Bjrkqvist Stephan von horsten Olaf Riess huu Phuc Nguyen Department of Medical Genetics University of TubingenTubingen 72076Germany Institute of Medical Sciences University of AberdeenAB25 2ZDUK Division of Ocular Neurodegeneration Centre for OphthalmologyInstitute for Ophthalmic ResearchUniversity of TubingenTubingen 72076Germany Neuronal Survival Unit Department of Experimental Medical SciencesWallenberg Neuroscience CenterLund UniversityLund 221 84Sweden Experimental Therapy Franz-Penzoldt-CenterUniversity of Erlangen-NurnbergErlangen 91054Germany

Characterization of disease models of neurodegenerative disorders requires a systematic and comprehensive phenotyping in a highly standardized manner. Therefore, automated high-resolution behavior test systems such as the homecage based LabMaster system are of particular interest. We demonstrate the power of the automated LabMaster system by discovering previously unrecognized features of a recently characterized atxn3 mutant mouse model. This model provided neurological symptoms including gait ataxia, tremor, weight loss and premature death at the age of 12 months usually detectable just 2 weeks before the mice died. Moreover, using the LabMaster system we were able to detect hypoactivity in presymptomatic mutant mice in the dark as well as light phase. Additionally, we analyzed inflammation, immunological and hematological parameters, which indicated a reduced immune defense in phenotypic mice. here we demonstrate that a detailed characterization even of organ systems that are usually not affected in SCA3 is important for further studies of pathogenesis and required for the preclinical therapeutic studies.

关键词： Automated homecage behavior Genetrap mouse model Spinocerebellar Ataxia Type 3

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Diagnosis of CAh in a Sub Saharan Country: Visible Part of Iceberg

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Open Journal of Pediatrics 2024年第2期14卷 227-233页

作者： Suzanne Sap Ritha Mbono hélène Kamo Jocelyn Tony Charlotte Eposse jeannette Epée Isabelle Mekone Adele Bodieu Gaelle Ntsoli Paul Olivier Koki Mother and Child Center of the Chantal Biya Foundation University of Yaoundé I Yaoundé Cameroon Laquintinie hospital University of Douala Douala Cameroon Genral hospital of Garoua University of Garoua Garoua Cameroon human Reproductive Center and Research on Fertility of Yaoundé University of Yaoundé I Yaoundé Cameroon Yaounde General hospital University of Yaoundé I Yaoundé Cameroon Yaounde Central hospital Yaoundé Cameroon Laquintiinie hospital Douala Cameroon

Introduction :Congenital adrenal hyperplasia (CAh) is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information from past history or pedigree of the patient is of a huge importance and may revealed surprises. Patients and Methods: In this observational study, we retrospectively included all patients with a diagnosis of CAh. The diagnosis of CAh was retained based on a high 17 hydroxyprogesterone level in addition to clinical and morphological findings. From patients’ files, we extracted data on family history of disease, pedigree, clinical findings and genetics when available of 39 patients from two endocrinopeadiatric centers. Results: In 13 (30%) families, we found 20 reported deaths of infant less than 12 months. In these 13 families, half of the patients followed had 21 hydroxylase deficiencies and had 11 hydroxylase deficiencies. Unsurprisingly, we suspected adrenal insufficiency in these patients at verbal autopsy even in families with a patient with 11 hydroxylase deficiency. Other non DSD malformations or genetic disorders with apparently no link with CAh were reported in 3 families. The father of a patient reported to have hypospadias. Conclusion: Each diagnosis of CAh made in our context is visible part of an iceberg. Behind a diagnosis of CAh made in our setting, is a long course of care, a dramatic past history revealing access to appropriate care disparity. Neonatal screening should thus be considered as an emergency.

关键词： Congenital Adrenal hyperplasia

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Acceptance and Experience of hIV-Infected Adolescents in Two hospitals in Yaoundé

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Open Journal of Pediatrics 2024年第2期14卷 435-443页

作者： Isabelle Mekone Nkwele Nelly Kamgaing Pierrette Amanda Emah Manga jeannette Épée Ngoué hélène Kamo Sélangai Claude Audrey Meguieze Nsoh Ndeh-Fofang Serge Tchoukoua Jean-Baptiste Fotso Djemo Paul Koki Ndombo Department of Pediatrics Faculty of Medicine and Biomedical Sciences University of Yaoundé I Yaoundé Cameroon Institut Supérieur des Sciences de la Santé de Bangangté Université des Montagnes Bangangté Cameroon Faculty of Medicine and Biomedical Sciences University of Garoua Garoua Cameroon

Introduction: Access to antiretroviral drugs has improved the survival of children infected with the human Immunodeficiency Virus (hIV). As they reach adolescence, they are confronted with various constraints related to the infection and its treatment, in addition to those of the growth period they are going through. The main aim of the study was to assess the acceptance and describe the experience of hIV infection by infected adolescents but also to investigate the factors associated with good acceptance and a positive experience. Methodology: The cross-sectional analytic study concerned hIV-infected adolescents aged 15 to 19 followed up at the Chantal Biya Foundation-Mother and Child Centre (CME-FCB) and the Yaoundé University hospital Centre (ChUY) between February 2020 and June 2020. The study saw participants complete a questionnaire containing socio-demographic data and assessing acceptance and experience with the infection. Data analysis was accomplished using Epi info software version 7.***.2.6. Results: One hundred and thirteen hIV-infected adolescents were included in the study. The sex ratio was 0.68 and the mean age was 17 years. More than half of the adolescents had a good acceptance and positive experience with the infection. Related factors were the adolescent’s perception of good health and participation in an association with other infected adolescents. Conclusion: Emphasizing the psychological and educational follow-up of infected adolescents and encouraging their participation in associations for adolescents living with hIV could reduce the consequences of poor acceptance and ensure a better transition to adulthood. .

关键词： hIV Adolescent Acceptance Experience

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Pediatric Nephrotic Syndrome in a Cameroonian Cohorte: The Beast to Slaughter

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Open Journal of Nephrology 2024年第3期14卷 386-396页

作者： Maimouna Mahamat Kalla Claude Diya Rahinatou Epee Ngoue jeannette Gamarko Sossal Ousmane Kaze Folefack François Koki Ndombo Paul Olivier Department of Internal Medicine and Specialties Faculty of Medicine and Biomedical Sciences University of Yaound 1 Yaound Cameroon haemodialysis Unit Yaound General Hospital Yaound Cameroon Department of Pediatrics Faculty of Medicine and Biomedical Sciences University of Yaound 1 Yaound Cameroon hemodialysis Department University Teaching Hospital Yaound Cameroon Mother and Child Center of Chantal Biyas Foundation Yaound Cameroon

Background: Idiopathic nephrotic syndrome (INS) is a frequent pathology in children. There is little data on the future of NS in children in sub-Saharan Africa, particularly Cameroon. The aim of our study is to report the prognosis of children treated for nephrotic syndrome in the city of Yaoundé. Method: This was an analytical cross-sectional study with retrospective collection in 4 reference hospitals in the Cameroonian capital over a period of five years from January 1, 2018 to December 31, 2022. We included all medical records of patients treated for idiopathic INS. We excluded incomplete records and those with a history of chronic kidney disease. The sociodemographic, clinical, paraclinical, and therapeutic data, as well as the short-term evolution were collected in the files. Data was analysed using the software statistical package for social sciences version 25.0. Statistical significance was set at a p-value Results: A total of 131 children (58% boys) were included in our study over a period of 5 years. The median age was 8 [6 - 11] years. Median proteinuria was 5 g/24h [3 - 8.4], median serum protein was 39 [34 - 46] g/l and median estimated glomerular filtration rate was 130.36 [68 - 174.6] ml/min/1.73m2. During steroid therapy, 45.07% were in partial remission at 2 months, 16.9% were in complete remission at 4 and 6 months, and 37.25% had relapsed. Steroid sensitivity was reported in 28.17% of cases, steroid resistance in 64.78% of cases and steroid dependent in 7.04% of cases. The mortality rate was 12.97%. Survival time averaged 48.2 months, with an overall crude survival rate of 99.2% at 3 and 6 months and 98.4% at 1 year. Regarding renal survival, renal function was impaired in 8.33% of patients at 6 months and 9% at 12 months. Conclusion: Idiopathic nephrotic syndrome is a common disease in children. Its evolution depends on corticosteroid therapy. The long-term prognosis is dominated by the risk of progression to end-stage kidney disease or even dea

关键词： Idiopathic Nephrotic Syndrome Outcome Mortality End-Stage Kidney Disease Children Cameroon

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科学化引领护肤新趋势

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商业周刊（中文版） 2024年第2期 72-73页

作者： jeannette Neumann Lennard Kok(绘图) 王非(译) 不详

希瑟·罗格斯(heatherRogers)13岁的女儿最近说,她想要的圣诞礼物是含有透明质酸的护肤品。罗格斯说她真是受够了。“我说,‘不,你需要的只有防晒霜,其他不用说了,’”罗格斯说。她是西雅图一位通过资72格认证的皮肤科医生。她说,女儿... 详细信息

希瑟·罗格斯(heatherRogers)13岁的女儿最近说,她想要的圣诞礼物是含有透明质酸的护肤品。罗格斯说她真是受够了。“我说,‘不,你需要的只有防晒霜,其他不用说了,’”罗格斯说。她是西雅图一位通过资72格认证的皮肤科医生。她说,女儿的要求反映了美国人当中的一种趋势,他们愈发沉迷于购买那些主要成分听上去像是直接来自实验室的产品。要是这些产品还承诺具有保湿功能,可以增强“皮肤屏障”,总之就是能够延缓皮肤老化,那就更好不过了。

关键词：皮肤科医生圣诞礼物皮肤老化防晒霜皮肤屏障透明质酸护肤品西雅图

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Storylines of family medicine Ⅻ:family medicine and the healthcare system

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Family Medicine and Community health 2024年第S3期12卷 109-118页

作者： William B Ventres Leslie A Stone jeannette E South-Paul Kendall M Campbell Aerial R Petty hima Ekanadham Kurt C Stange Rebecca S Etz William L Miller Robert L Ferrer Marianna Kong Thomas Bodenheimer Roger Strasser Sharon C M Reece Joshua Freeman John M Westfall Family and Preventive Medicine University of Arkansas for Medical Sciences College of MedicineLittle RockArkansasUSA Meharry Medical College NashvilleTennesseeUSA Family Medicine University of Texas Medical Branch at Galveston School of MedicineGalvestonTexasUSA Family Medicine Residency Program New York-Presbyterian Columbia University Medical CenterNew YorkNew YorkUSA Center for Family and Community Medicine Columbia University Vagelos College of Physicians and SurgeonsNew YorkNew YorkUSA Center for Community health Integration Case Western Reserve University School of MedicineClevelandOhioUSA Family Medicine and Population health Virginia Commonwealth University School of MedicineRichmondVirginiaUSA Family Medicine Lehigh Valley Health NetworkAllentownPennsylvaniaUSA University of South Florida Morsani College of Medicine TampaFloridaUSA Family and Community Medicine UT Health San Antonio Long School of MedicineSan AntonioTexasUSA Family and Community Medicine University of California San Francisco School of MedicineSan FranciscoCaliforniaUSA Northern Ontario School of Medicine University SudburyOntarioCanada Family Medicine Baylor Scott and White HealthTempleTexasUSA Family Medicine University of Kansas School of MedicineKansas CityKansasUSA DARTNet Insitute AuroraColoradoUSA

Storylines of Family Medicine is a 12-part series of thematically linked mini-essays with accompanying illustrations that explore the many dimensions of family medicine,as interpreted by individual family physicians and medical educators in the USA and elsewhere around the ***‘Ⅻ:Family medicine and the future of the healthcare system’,authors address the following themes:‘Leadership in family medicine’,‘Becoming an academic family physician’,‘Advocare—our call to act’,‘The paradox of primary care and three simple rules’,‘The quadruple aim—melding the patient and the health system’,‘Fit-for-purpose medical workforce’,‘Universal healthcare—coverage for all’,‘The futures of family medicine’and‘The 100th essay.’May readers of these essays feel empowered to be part of family medicine’s exciting future.

关键词： system illustration family

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Risk Factors for Geo-helminthiasis in Children Aged 6 - 36 Months in a Rural health District in Cameroon

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Open Journal of Pediatrics 2024年第2期14卷 391-400页

作者： Isabelle Mekone Nkwele Monono Naiza Gervais Talla Kamga hugues Nana Djeunga jeannette Epée Ngoue Patricia Epée Eboumbou Suzanne Ngo Um Sap Evelyn Mah Mungeh Joseph Kamgno Department of Pediatrics Faculty of Medicine and Biomedical Sciences University of Yaoundé I Yaoundé Cameroon Department of Internal Medicine and Paediatrics Faculty of Health Sciences University of Buea Buea Cameroon Centre de Recherche sur les Filarioses et autres Maladies Tropicales (CRFilMT) Yaoundé Cameroon Department of Clinical Sciences Faculty of Medicine and Pharmaceutical Sciences University of Douala Douala Cameroon Department of Public health Faculty of Medicine and Biomedical Sciences University of Yaoundé I Yaoundé Cameroon

Introduction and Objectives: Soil-Transmitted-helminthiasis (STh) is a public health problem in Cameroon. The control strategies currently in place, particularly chemoprevention, has shortcomings linked to the target population, which are school-age children. The objective was to determine the prevalence and the risk factors associated with geo-helminthiasis in children aged 0 to 3 years in a rural health district. Method: From December 2020 to May 2021, a descriptive and analytical cross-sectional study of 376 children between 6 and 36 months was carried out in the Akonolinga health district. This was a cluster sampling in 4 health areas. Stool samples were collected and analysed using the mini-FLOTAC method. The results expressed as the number of eggs per gram of stool. A questionnaire on socio-demographic and lifestyle data was administered to the parents. The Chi-squared test was used to measure the association between geo-helminth infection and the data collected. A multivariate analysis using logistic regression was performed (p 0.05). Results: The prevalence of STh was 19.4% (Ascaris lumbricoides: 16% and Trichuris trichiura: 8%). Risk factors were: consumption of contaminated water (AOR = 1.93 [1.03 - 3.6];p = 0.040), early contact of the child with the ground (before age of 4 months) (AOR = 4.9 [2.1 - 11.37];p .001), habit of walking barefoot (AOR = 2.91 [1.1 - 7.97];p = 0.038), and living in a habitat with unpaved ground (AOR = 7.4 [1.55 - 35.7];p = 0.012). Conclusion: The prevalence of SThs in infants was high. Preventive chemotherapy should be extended to this age-group, and other measures intensified.

关键词： Akonolinga Soil-Transmitted-helminths Children Aged 0 - 3 Years Risk Factors

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Epidemiological, Clinical Aspects and Outcome of Measles in a Low-Income Country in 2023

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Open Journal of Pediatrics 2024年第1期14卷 139-148页

作者： Sime Tchouamo Arielle Annick Enyama Dominique Noukeu Diomède Atyam Ekotto Marie Christine Abouame Palma haoua Epee Ngoue jeannette Kago Tague Daniel Armand Touka Eric Brice Tasse Simo Nathalie Ines Nguéfack Félicité Faculty of Medicine and Pharmaceutical Sciences of University of Dschang Dschang Cameroon Gynaeco-Obstetric and Pediatric hospital of Yaounde Yaounde Cameroon Gynaeco-Obstetric and Pediatric hospital of Douala Douala Cameroon Regional Annex hospital of Dschang Dschang Cameroon Faculty of Medicine and Biomedical Sciences of University of Garoua Garoua Cameroon Faculty of Medicine and Biomedical Sciences of University of Yaounde 1 Yaounde Cameroon West Regional Delegation of Public health Bafoussam Cameroon

Introduction: Measles remains a worrying health problem in sub-Saharan African countries. There have been measles outbreaks in Cameroon with the most recent occurring between October 2022 and September 2023. The Centre region of Cameroon was the most affected in the country and being at the frontline of the fight against this illness, we conducted this study in order to determine the epidemiological and clinical characteristics as well as the outcome of children who contracted the measles and were hospitalized at the Yaoundé Gynaeco-Obstetric and Pediatric hospital. Methodology: We conducted a cross-sectional descriptive and prospective study for one year from October 2022 to November 2023 corresponding to the duration of the outbreak. We included all children admitted in the pediatric unit for measles and its complications during this period. Results: In total, 60 children were enrolled. Their caregivers were mostly their mothers who had a mean age of 34.71 ± 9.55 years living in significant precarious conditions for the majority. The median age of children was 16 months (09 - 30 months). Twenty six percent of children (16) were less than 9 months. Girls were predominant (55%). Most children were not up to date with their routine EPI vaccination (80%) and most did not receive the measles and Rubella vaccine (76.67%). Clinical manifestations, included fever, conjunctivitis, and cough. Skin rash and catarrh (98.33% and 86.67% respectively) are the case definition signs of measles. The outcome was unfavorable for 4 children. One had a neurological disorder: coma and three presented with pneumonia and severe respiratory distress (6.67%). Conclusion: Measles is still being a reality and claiming lives in our context, emphasis should be made on immunization coverage and if possible, advocacies should be formulated to decrease the age of measles vaccine administration.

关键词： Measles Complications Low-Income Countries

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LVMh路威酪轩集团董事会主席兼CEO 伯纳德·阿尔诺:我们的每项计划都着眼于未来

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商业周刊（中文版） 2024年第12期 42-49页

作者： BRAD STONE ANGELINA RASCOUET RUVEN AFANADOR(摄影) jeannette Neumann Natalie Wong Daniela Wei Shirley Zhao 杨飞(译) 不详

LVMh路威酪轩集团已将全球众多奢侈品牌收入囊中,如今又成为2024年巴黎奥运会的最大赞助商。阿尔诺认为,该集团作为法国文化旗手,有责任让奥运会取得成功每周六早上,伯纳德·阿尔诺(BernardArnault)都会在副手、保镖和子女轮流担当的随... 详细信息

LVMh路威酪轩集团已将全球众多奢侈品牌收入囊中,如今又成为2024年巴黎奥运会的最大赞助商。阿尔诺认为,该集团作为法国文化旗手,有责任让奥运会取得成功每周六早上,伯纳德·阿尔诺(BernardArnault)都会在副手、保镖和子女轮流担当的随从陪同下,花几个小时的时间巡查他供奉着手袋、时装、珠宝和昂贵手表的时尚神殿。

关键词：集团董事会奢侈品牌阿尔诺奥运会伯纳德 CEO 赞助商

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Evaluation of Mandibular Deprogramming Using TENS (Transcutaneous Electrical Nerve Stimulation) in Patients at the Specialty Clinic of the Juarez Autonomous University of Tabasco from 2022 to 2024

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Journal of Biosciences and Medicines 2024年第7期12卷 245-251页

作者： Christian C. Aguilar-Caamal Landy V. Limonchi-Palacio Crystell G. Guzmán-Priego jeannette Ramírez-Mendoza José M. Lehmann-Mendoza Miguel A. López-Alvarado Xavier E. Moreno-Enriquez Jorda A. Albarrán-Melzer Academic Division of health Sciences Juarez Autonomous University of Tabasco Villahermosa Tabasco Mxico Cardiometabolism Laboratory Academic Division of Health Sciences Juarez Autonomous University of Tabasco Villahermosa Tabasco Mxico

Temporomandibular disorders (TMD) negatively affect quality of life, causing pain and restricted jaw movements. This study evaluates the effectiveness of Transcutaneous Electrical Nerve Stimulation (TENS) on TMD patients before orthodontic treatment at the Juarez Autonomous University of Tabasco. A quantitative, quasi-experimental study was conducted with 30 patients who met the inclusion criteria: aged 18 to 65 years, with TMJ pain symptoms, diagnosed with temporomandibular disorders using the helkimo index, and who had provided informed consent for the study. The range of mandibular movement and the Visual Analog Scale (VAS) were measured to record values before therapy. The electrodes of the TENS therapy were positioned on both sides of the jaw in the preauricular area and the masseter muscle, the therapy was administered for 40 minutes, utilizing a frequency of 2 - 4 hz and a pulse duration of 300 microseconds. Following this, the range of mandibular movement and the VAS were reassessed to evaluate the outcomes., significantly improved maximum mouth opening (37.7 ± 6.4 mm to 44.6 ± 5.88 mm), right laterality (3.86 ± 1.57 mm to 5.43 ± 1.21 mm), left laterality (3.13 ± 1.63 mm to 4.53 ± 1.61 mm), protrusion (4.01 ± 1.7 mm to 5.36 ± 1.32 mm), and pain perception (4.56 ± 2.045 to 2.03 ± 1.5) (P herapy enhances mandibular movement and reduces pain, making it a well-tolerated, non-invasive complementary treatment for TMD.

关键词： TENS Opening Deprogramming Electrostimulation TMJ (Temporomandibular Joint)

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