Results 71 to 80 of about 1,615,855 (255)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

A clinical study of childhood penetrating ocular trauma in a tertiary care center in Southern India

Kerala Journal of Ophthalmology
Aims: Ocular trauma is one of the major causes of monocular blindness in the pediatric age group, causing significant visual morbidity. The purpose of this study is to identify the causes, types, location of injuries, and clinical features due to ocular ...
Swetha Mallagundla, Priyam Gupta, Sanjana Singasandra Marijogaiah, H R Hithashree, K H Srinivas   +4 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Prehospital and emergency department pediatric readiness for injured children: A statement from the American College of Surgeons Committee on Trauma Emergency Medical Services Committee

, 2023
Injury is the leading cause of death in children >1 year of age and children make up 22% of the population. Pediatric readiness of the nation's emergency departments and state Trauma and Emergency Medical Services systems is conceptually important and ...
Gross, Toni, Bulger, Eileen M, Mary E. Fallat, Fallat, Mary E., Eileen M. Bulger, Bulger, Eileen M., Lisa Gray, Nicholas Namias, Campion, Eric, Jensen, Aaron, Gray, Lisa, Goodloe, Jeffrey M, Jensen, Aaron R., Goodloe, Jeffrey M., Ross, Samuel Wade, Fischer, Peter E., Samuel Wade Ross, Jeffrey M. Goodloe, Peter E. Fischer, Toni Gross, Aaron R. Jensen, Namias, Nicholas, Fischer, Peter E, Eric Campion, Fallat, Mary   +24 more
core   +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

Transient Myopia and Hypotonia after Blunt Eye Trauma

, 2011
A patient whot received blunt trauma to the right eye one week ago referred to our clinic with complaints of low vision. Traumatic mMyopia and hypotonia were detected in the same eye after full ophthalmologic examination.
Yonca Ayd›n Akova, Yonca Aydın Akova, Müge Çoban Karataf, Aysel Pelit, Müge Çoban Karataş   +4 more
core   +1 more source

Irreversible Electroporation for Inferior Turbinate Reduction Ablation in Adults

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Inferior turbinate hypertrophy is a common cause of nasal airway obstruction. An optimal surgical approach should provide effective volume reduction while preserving mucosal integrity and minimizing postoperative morbidity. Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) for non‐thermal ablation ...
Narin Nard Carmel Neiderman, Codrut Sarafoleanu, Ionut Tanase, Mihai Alexandru Pascu, Desiderio Passali, Ulugbek Saidakramovich Khasanov, Ulugbek Nuridinovich Vokhidov, Eugenijus Lesinskas, Marius Polianskis, Avraham Abergel   +9 more
wiley   +1 more source

Penetrating injury of orbital roof and brain sparing the eye ball in a pediatric patient: A rare occurrence

Journal of Pediatric Neurosciences, 2016
Blowout fractures are a common occurrence in traumatic brain injury patients. In pediatric age group, orbital floor fracture is a common occurrence. We report a case of 2-year-old male admitted to trauma center, with penetrating injury to the left eye by
Vikul Kumar, Atul Kumar Singh, Kulwant Singh Bhaikhel   +2 more
doaj   +1 more source

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source