Results 131 to 140 of about 302,141 (331)

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou, Hana Kubova, Stéphane Auvin, Massimo Mantegazza, Melissa Barker‐Haliski, Aristea S. Galanopoulou, Christopher A. Reid, Bridgette D. Semple   +7 more
wiley   +1 more source

The Surge of Maternal and Congenital Syphilis in a Tertiary Care Center in Bangkok, Thailand

Thai Journal of Obstetrics and Gynaecology, 2019
Objectives: Globally, syphilis in pregnancies remains a significant health concern, because the infection results in numerous maternal and fetal complications.
Yada Kunpalin, Anongnart Sirisabya, Surasith Chaithongwongwatthana   +2 more
doaj  

Congenital Infection of Severe Acute Respiratory Syndrome Coronavirus 2 With Intrauterine Fetal Death: A Clinicopathological Study With Molecular Analysis. [PDF]

Clin Infect Dis, 2022
Lesieur E, Torrents J, Fina F, Zandotti C, Blanc J, Collardeau-Frachon S, Gazin C, Sirgant D, Mezouar S, Otmani Idrissi M, Lepidi H, Bretelle F, Mege JL, Daniel L, Fritih R.   +14 more
europepmc   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Efficacy and Safety of a Standardized CPAP Protocol in the Delivery Room in Late Preterm Infants with Infectious and Non-Infectious Lung Diseases

Общая реаниматология
The aim of this study was to evaluate the efficacy and safety of a standardized protocol of delivery room CPAP therapy in late preterm infants with acute neonatal respiratory failure (ARF) caused by various conditions.Material and methods.
Eugene V. Shestak, Olga P. Kovtun, Ekaterina A. Mylarshikova, Yulia I. Nechaeva   +3 more
doaj   +1 more source

HLA-E restricted cytomegalovirus UL40 peptide polymorphism may represent a risk factor following congenital infection. [PDF]

BMC Genomics, 2022
Tarragó D, González I, González-Escribano MF.   +2 more
europepmc   +1 more source

Linajes de Trypanosoma cruzi en pacientes con enfermedad de Chagas y coinfección por VIH [PDF]

, 2009
Introducción. Las poblaciones naturales de T. cruzi han sido clasificadas en seis linajes filogenéticos o unidades de tipificación discreta: T. cruzi I, IIa, IIb, IIc, IId y IIe, que pueden jugar un rol en el tropismo tisular y patogénesis de la ...
Altcheh, Jaime Marcelo, Begher, Sandra, Bisio, Margarita María Catalina, Burgos, Juan Miguel, Cura, Carolina Inés, Duffy, Tomás, Freilij, Hector León, Giganti, Salvador Óscar, Levin, Mariano Jorge, Scapellato, Pablo Gustavo, Schijman, Alejandro Gabriel, Schreck, Ricardo   +11 more
core  

Chronic infection with Trypanosoma musculi in congenitally athymic nude mice [PDF]

, 1977
R G Rank, David W. Roberts, William P. Weidanz   +2 more
openalex   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source