Results 121 to 130 of about 55,352 (285)

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Impact of resuscitation training program on neonatal outcomes in a region of high socioeconomic vulnerability in Brazil: an interventional study

Jornal de Pediatria, 2023
Objectives: This pre/post-intervention study aimed to evaluate neonatal outcomes after the implementation of the Neonatal Resuscitation Program of the Brazilian Society of Pediatrics.
Renato Oliveira de Lima, Sérgio Tadeu Martins Marba, Maria Fernanda Branco de Almeida, Ruth Guinsburg   +3 more
doaj  

ANESTHESIA PERSONNEL, NEONATAL RESUSCITATION, AND THE COURTS [PDF]

, 1991
H. J. Heyman, Ninos J. Joseph, M. R. Salem, Kathy Heyman   +3 more
openalex   +1 more source

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

Clinical Genetics, EarlyView.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick‐Esteve, Gregory M. Cooper, Stephen R. F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor   +8 more
wiley   +1 more source

Rh Negative Status and Isoimmunization Update: A Case-Based Approach to Care [PDF]

, 2003
Prior to the 1970s and the advent of Rho (D) immune globulin (RIG) for Rh negative women, hemolytic disease of the newborn led to morbidity, long-term disabilities, and mortality.
Hanson, Lisa, Harrod, Kathryn Shisler, Heywood, Patricia, VandeVusse, Leona   +3 more
core   +1 more source

Reproducibility of the Motor Optimality Score–Revised in infants with an increased risk of adverse neurodevelopmental outcomes

Developmental Medicine &Child Neurology, EarlyView.
The Motor Optimality Score‐Revised assesses early infant motor repertoire, with promising predictive ability for identifying developmentally vulnerable infants, ensuring good reproducibility is essential for real‐world implementation. We demonstrated high reliability and agreement among six assessors across a cohort of infants with varied ...
Carly Luke, Arend F. Bos, Michelle Jackman, Robert S. Ware, Anya Gordon, Christine Finn, Dyvonne H. Baptist, Katherine A. Benfer, Margot Bosanquet, Roslyn N. Boyd   +9 more
wiley   +1 more source

Neonatal Resuscitation Online Registry in Shenzhen: protocol for a prospective, multicentre, open, observational cohort study

BMJ Open
Introduction Preterm birth complications and neonatal asphyxia are the leading causes of neonatal mortality worldwide. Surviving preterm and asphyxiated newborns can develop neurological sequelae; therefore, timely and appropriate neonatal resuscitation ...
Ping Zhou, Ping Jiang, Lu Ding, Hong Tang, Jing Han, Zhangbin Yu, Hanni Lin, Jiebo Liu   +7 more
doaj   +1 more source

Neonatal resuscitation and the laryngeal mask airway [PDF]

, 1995
E. Thomas
openalex   +1 more source

Mammalian TatD DNase domain containing 1 (TATDN1) is a proteostasis‐responsive gene with roles in ventricular structure and neuromuscular function

The FEBS Journal, EarlyView.
Twin‐arginine translocation D (TatD) homologs are found across all kingdoms, with debated roles in DNA degradation and protein quality control in unicellular organisms. We characterize TATDN1, the mammalian TatD orthologue, as a proteostatic stress‐responsive cytosolic protein dispensable for DNA degradation.
Gisel Barés, Aida Beà, Anna Sancho‐Balsells, Juan G Valero, David Aluja, Javier Inserte, Sandra García‐Carpi, Elisabet Miró‐Casas, Sara Borràs‐Pernas, Sara Hernández, Ana Martínez‐Val, Jesper V Olsen, Francesc Tebar, Xavier Cañas, Joan X. Comella, Patricia Pérez‐Galán, Marisol Ruiz‐Meana, Albert Giralt, Marta Llovera, Daniel Sanchis   +19 more
wiley   +1 more source

Median sternotomy for prolonged resuscitation in neonatal tetralogy of fallot with absent pulmonary valve [PDF]

, 1996
Jacques A.M. van Son, F. W. Mohr
openalex   +1 more source