Results 61 to 70 of about 8,860 (245)

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

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

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +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

Estudio comparativo de 2 técnicas quirúrgicas para la cirugía del pterigión primario Comparative study of 2 surgical techniques for the operation of primary Pterygium

Revista Cubana de Oftalmología, 2000
Realizamos un estudio comparativo de 2 técnicas quirúrgicas para la cirugía del Pterigión Primario. Nuestra muestra estuvo conformada por 100 pacientes portadores del Pterigión Primario Grado II, que fueron enviados a una consulta creada al efecto, según
Leonor R Díaz Alfonso, Elvira Machado Héctor, Hernán García Álvarez, Juan Alegre Núñez   +3 more
doaj  

Patient‐Personalized Membrane‐Coated Magnetic Nanovectors: Probing the Biomimetic Interface for Targeted Tumor Theranostics

Advanced NanoBiomed Research, EarlyView.
This study presents a label‐free spectroscopic platform to evaluate membrane protein conformation on patient‐derived glioblastoma cell membrane‐coated magnetic nanovectors. This work demonstrates that preserving membrane protein integrity during nanoparticle fabrication enhances homotypic tumor targeting and reduces hard protein corona formation ...
Daniele De Pasquale, Michela Patrucco, Melike Belenli Gümüş, Alessandra Flori, Luca Menichetti, Stefania Moscato, Valentina Bonanni, Alessandra Gianoncelli, Milan Žižić, Pietro Fiaschi, Monica Truffelli, Andrea Bianconi, Melis Emanet, Gianmarco Ferri, Chiara Maria Mazzanti, Carlotta Pucci, Gianni Ciofani   +16 more
wiley   +1 more source

When trabeculectomy fails

Community Eye Health Journal, 2012
The patient needed the trabeculectomy and you have done a great surgical job, but the pressure is now above the pre-operative level and you are feeling a failure. What are you going to do?
Ian Murdoch
doaj  

Satisfação de pacientes após cirurgia refrativa de monovisão avançada

Revista Brasileira de Oftalmologia
Resumo Objetivo: Monovisão é um conceito que descreve a correção propositadamente desigual da visão de em um olho para longe e outro olho para perto, sendo utilizada principalmente para correção da presbiopia.
Ignatz Rohrbache, Luciano Halal Haddad
doaj   +1 more source

Using Q‐methodology and the 3P model of learning to evaluate medicine and dentistry students' experiences with a blended anatomy laboratory design

Anatomical Sciences Education, EarlyView.
Abstract In response to the COVID‐19 pandemic, the Faculty of Medicine and Health Sciences at McGill University initiated blended curriculum delivery for first‐year medicine and dentistry students in anatomy, combining limited hands‐on dissection with online laboratory‐adjacent activities using a 3D software application.
Jobanpreet Dhillon, Mayssa Moukarzel, George Laggis, Geoffroy Noël, Nicole M. Ventura, Sean C. McWatt   +5 more
wiley   +1 more source

RULA method in the ergonomic analysis of an ophthalmic surgeon’s work: a case study

O Mundo da Saúde
Work-related musculoskeletal disorders (WRMSDs) represent a widespread occupational health issue across many countries, leading to high organizational costs and constituting one of the main causes of work disability.
Teresa Alexandra Vaz Ferreira, Cláudia Cristina Cabral de Carvalho   +1 more
doaj   +1 more source