Results 111 to 120 of about 581,453 (310)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Editorial: Immunological challenges around pregnancy complications associated with failures of maternal tolerance to the fetus

Frontiers in Immunology, 2022
Michael Eikmans, Diana M. Morales-Prieto, Marie-Louise van der Hoorn, Udo R. Markert   +3 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Hysterotomy for Retained Placenta in a Septate Uterus: A Case Report

Case Reports in Obstetrics and Gynecology, 2012
Retained placenta is a common complication of the third stage of labor. Most literature has focused on management of a trapped placenta or placenta accreta.
Daniel Lee, Joseph Johnson
doaj   +1 more source

Canine brachycephalic obstructive airway syndrome as a model for studying the effects of obstructive sleep apnea during pregnancy

Animal Models and Experimental Medicine, EarlyView.
We observed a negative effect of brachycephalic obstructive airway syndrome (BOAS) in a staggered manner based on the severity of the condition on respiratory and cardiac patterns, glycemia, acid–base balance, fetal growth, and uterine artery hemodynamics, thus requiring adaptations within the fetal–placental unit. Severely affected bitches had uterine
Roberto Rodrigues da Rosa Filho, Thayná Pantoja Gardés, Maíra Morales Brito, Leticia Lima de Almeida, Camila Infantosi Vannucchi   +4 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Efecto sobre la función trofoblástica in vitro, de los anticuerpos antifosfolípidos de pacientes con diferentes manifestaciones clínicas del síndrome antifosfolípido

Iatreia, 2013
INTRODUCCIÓN: el síndrome antifosfolípido (SAF) se define como episodios trombóticos y/o morbilidad gestacional asociados a la presencia de anticuerpos antifosfolípidos (aAFL).
Yonhatan Ramírez Castillo, Ángela Álvarez, Norman Bálcazar, Manuela Velásquez, Beatriz Peña, Udo Markert, Angela Cadavid   +6 more
doaj  

A perspective from the Mesozoic: Evolutionary changes of the mammalian skull and their influence on feeding efficiency and high‐frequency hearing

The Anatomical Record, EarlyView.
Abstract The complex evolutionary history behind modern mammalian chewing performance and hearing function is a result of several changes in the entire skeletomuscular system of the skull and lower jaw. Lately, exciting multifunctional 3D analytical methods and kinematic simulations of feeding functions in both modern and fossil mammals and their ...
Julia A. Schultz
wiley   +1 more source

Comparative and functional anatomy of masticatory muscles and bite force in opossums (Didelphimorphia, Didelphidae)

The Anatomical Record, EarlyView.
We describe the functional anatomy of masticatory muscles in nine opossums, finding a generalized anatomical pattern with differences related to skull morphology. Variation in quantitative myological data and estimated bite force was mostly related to size, and the increase in bite force supports dietary diversification associated with size increase ...
Juann A. F. H. Abreu, Diego Astúa
wiley   +1 more source