Results 61 to 70 of about 64,233 (299)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Anthropometric Characteristics and Body Composition Changes in a Five-Time Olympic Champion in Greco-Roman Wrestling: A Longitudinal Case Study Towards the Paris 2024 Olympic Games

Journal of Functional Morphology and Kinesiology
Purpose: This case study examines the anthropometric characteristics and body composition changes of a 41-year-old Cuban Greco-Roman 130 kg wrestler, a five-time Olympic gold medalist (2008–2024).
Wiliam Carvajal-Veitía, Carlos Abraham Herrera-Amante, Rodrigo Yáñez-Sepúlveda, Vladimir Gainza-Pérez, Yanell Deturnell-Campos, Carlos Cristi-Montero, Guillermo Cortés-Roco, César Octavio Ramos-García   +7 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Validity of self-reported anthropometry in adult Mexican women

Salud Pública de México, 2017
Objective. To compare direct and self-reported anthro­pometry in Mexican women. Materials and methods. Women aged 30-72 years, participating in the Mexican Teach­ers’ Cohort, completed a questionnaire with their anthropo­metric data in 2006-2008.
Eduardo Ortiz-Panozo, Elsa Yunes-Diaz, Martin Lajous, Isabelle Romieu, Adriana Monge, Ruy López-Ridaura   +5 more
doaj   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

Pelvic morphology and body size in relation to the preauricular sulcus: Evidence from medieval to modern Iberia

The Anatomical Record, EarlyView.
Abstract The preauricular sulcus has long been debated as a pelvic feature variably attributed to obstetric stress, ligamentous traction, and broader biomechanical processes. To clarify its determinants, we analyzed 409 adult individuals from three archeological and one early modern skeletal collection from the Iberian Peninsula, integrating graded ...
Rebeca García‐González, Julia Muñoz‐Guarinos, Nico Cirotto, Sonia Díaz‐Navarro, Laura Rodríguez, José Miguel Carretero   +5 more
wiley   +1 more source

Validity and agreement between dual-energy X-ray absorptiometry, anthropometry and bioelectrical impedance in the estimation of fat mass in young adults

Frontiers in Nutrition
IntroductionAssessment of fat mass has historically employed various methods like Dual-energy X-ray Absorptiometry (DXA), and bioelectrical impedance (BIA), and anthropometry with its set of formulas.
Malek Mecherques-Carini, Mario Albaladejo-Saura, Raquel Vaquero-Cristóbal, Nicolás Baglietto, Francisco Esparza-Ros   +4 more
doaj   +1 more source

Twin pregnancies and the limits of the energetics of gestation and growth hypothesis

The Anatomical Record, EarlyView.
Abstract The “Energetics of Gestation and Growth” (EGG) hypothesis proposes that human birth timing and the associated secondary altriciality of human newborns is determined by limits in maternal metabolic capacity. According to this model, labor is triggered when the increasing fetal energy requirements exceed the expectant mother's maximum sustained ...
Cédric Cordey, Nicole M. Webb, Martin Haeusler   +2 more
wiley   +1 more source

Minimalist Footwear Acutely Alters Running Kinematics in Runners With Medial Tibial Stress Syndrome

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To assess immediate biomechanical changes in runners with medial tibial stress syndrome (MTSS) when transitioning from standard to minimalist running shoes. Methods Active runners diagnosed with MTSS ran on a treadmill at 10 km/h using standard and minimalist running shoes. Hip, knee, and ankle joint kinematics were captured using a 16‐infrared‐
Quyet Thang Nguyen, My T. Than, Minh Ho Ngoc, Ngoc‐Tram Nguyen, Nam Vu Tu, Tien Quang Tran, Dung Tran Trung   +6 more
wiley   +1 more source