Results 71 to 80 of about 161,329 (200)

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Impact de trois mois d’activité physique sportive accompagnés d’un régime alimentaire chez des personnes en excès pondéral.

Revue des Sciences Humaines, 2015
La surcharge pondérale, provoquée par l'accumulation des graisses, devient de plus en plus un problème  de santé publique majeur. L’excès pondéral est associé à un risque accru de pathologies chroniques. Le but de cette étude était d’étudier  l’effet de
Yacine BENKARA
doaj  

Impact des déchets ménagers sur l’environnement et la santé dans la périphérie de Kinshasa-RDC [PDF]

Mouvements et Enjeux Sociaux
En République Démocratique du Congo, dans la ville de Kinshasa en général, et en particulier dans la commune de Selembao voire quartier Madiata, la mauvaise gestion des déchets ménagers est l’une des principales causes des maladies et de pollution.
Guylain NKULA NSINDU , Benjamin KONGOLO TSHISUAKA, Aimé KUDIAKUBANZA KATEMBO   +2 more
doaj  

Images et imaginaires de l’aliment biologique

Im@go. A Journal of the Social Imaginary, 2015
Nous proposons une analyse sociologique de la nourriture biologique en prenant comme axe directeur la production d’images et d’imaginaires. Deux formes symboliques apparaissent: la décontamination et l’écosophie.
Hélène Houdayer
doaj  

Salud en la frontera brasileña: construcciones para una política transfronteriza

Trayectorias Humanas Trascontinentales
Este artículo presenta una reflexión analítica sobre la salud en la frontera brasileña, resultado de investigaciones realizadas en ese territorio. El objetivo es discutir y reflexionar sobre los elementos que involucran la cooperación y la integración de
Fabricia Santina de Oliveira Carissimi, Luciane Pinho de Almeida   +1 more
doaj   +1 more source