Results 221 to 230 of about 36,304 (274)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases. [PDF]

Front Neurosci
Zhao T, Chen F, Cao B, Yang L, Yin J, Li Y, Feng F.   +6 more
europepmc   +1 more source

Development of an in situ small intestinal injection technique for targeted macromolecule delivery and in vivo functional studies in mice

Animal Models and Experimental Medicine, EarlyView.
This study developed a minimally invasive, in situ small intestinal injection technique for mice, enabling targeted delivery of bioactive molecules while bypassing gastric degradation. Validation using functional assays and single‐cell RNA sequencing reveals high‐mobility group box 1–mediated epithelial responses, offering a translational tool for gut ...
Yawen Lai, Xintao Zhang, Tingting Luo, Wenhan Chen, Chenyu Ma, Haihua Luo, Jinghua Liu, Jia Xu   +7 more
wiley   +1 more source

Association Between Prophylactic Anti-Seizure Medication and Early Post-Traumatic Seizures: An International Observational Multicenter Study. [PDF]

MedComm (2020)
Ji J, Roa G JD, Chong SL, Wang Q, Gan CS, Ng JPW, Miranda TET, Chamorro FIP, Chan LCN, Abbas Q, Ong JSM, Ardila IJ, Kazzaz YM, Domínguez-Rojas JA, Kurosawa H, Domínguez SBR, Arriola NEG, Watzlawik NZ, Yock-Corrales A, Palomino REL, Aparicio G, Caporal P, Gómez RET, Liu C, Samransamruajkit R, Anantasit N, Turina DM, Flores MF, Lee PC, Pilar-Orive FJ, Dang H, Chor YK, Ming M, Jaramillo-Bustamante JC, González-Dambrauskas S, Lee JH, Qian S.   +36 more
europepmc   +1 more source

Animal models of benign airway stenosis: Advances in construction techniques, evaluation systems, and perspectives

Animal Models and Experimental Medicine, EarlyView.
Currently, the animals commonly used to establish animal models of benign airway stenosis (BAS) include mice, rats, pigs, dogs, rabbits, and ferrets. The establishment methods involve one or a combination of two methods such as mechanical injury, tracheal cautery, cuff overpressure intubation, laser injury, and endoscopic silver nitrate cauterization ...
Wusheng Zhang, Yilin Chen, Chengcheng Yang, Yuchao Dong, Haidong Huang, Hui Shi, Chong Bai   +6 more
wiley   +1 more source

Trends in alcohol withdrawal management by medical toxicologists in the acute care setting: an analysis of the Toxicology Investigators Consortium (ToxIC) Core Registry, 2016-2022. [PDF]

Alcohol Alcohol
DelBianco JD, Galeano KJ, Beauchamp GA, Surmaitis RM, Shara SE, Sutter A, Kincaid H, Stirparo JJ, Wheel KL, Amaducci AM, Toxicology Investigators Consortium (ToxIC).   +10 more
europepmc   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Comprehending the Membrane Properties for Emulation in Organs‐on‐a‐Chip

Advanced NanoBiomed Research, EarlyView.
The advent of organ‐on‐chip models allows closer emulation of in vivo conditions, leading to effective, less costly, and specific drugs. Although a number of membrane‐based on‐chip models exist, better emulating functional models need to be devised for organ simulations.
Tanmayee Makarand Sathe, Dhananjay Shrikrishna Bodas   +1 more
wiley   +1 more source

Adverse Drug-Drug Interaction Between Phenobarbital and Fluconazole in Two Dogs. [PDF]

J Vet Intern Med
Jaramillo M, Mondino A, Court M, Lewis MJ, Olby NJ, Muñana KR.   +5 more
europepmc   +1 more source