Results 131 to 140 of about 5,122,361 (303)

Intensive Care Management in Pediatric Burn Patients

, 2011
Burn injury is still a leading cause of morbidity and mortality in children. This article aimed to review the current principles of management from initial assessment to early management and intensive care for pediatric burn patients.
Ayşe Ebru Sakallıoğlu Abalı
core  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Supporting Muslim families before and after a death in neonatal and paediatric intensive care units

, 2019
Background: The death of a child is regarded as one of the most devastating events for a family. Families are reliant on nurses to not only provide end-of-life care but also to support and care for grieving families in a way that is sensitive to their ...
Laura A. Brooks, Abbas Al Mutair, Al Mutair, Abbas, Maram Al Ammary, Al Ammary, Maram, Bloomer, Melissa J, Brooks, Laura A, Melissa J. Bloomer   +7 more
core   +1 more source

Diversity of clonal types of Klebsiella pneumoniae causing infections in intensive care neonatal patients in a large urban setting. [PDF]

Braz J Microbiol, 2019
Justo-da-Silva LH, De-Azeredo AN, Bueno AC, Montezzi LF, Leobons MBGP, Alves MS, de Souza Inhaquite P, Santos RR, Girão VBC, da Cunha AJLA, Pessoa-Silva CL, Picão RC, Hofer CB, Santoro-Lopes G, Riley LW, Moreira BM.   +15 more
europepmc   +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

Pharmacological therapy of newborn babies admitted to the neonatal intensive care unit

, 2017
Newborn babies who need intensive medical care are often sheltered into a special area of the hospital called Neonatal Intensive Care Unit (NICU). In this structure, babies are regularly subject to conditions that would be considered harmful by older ...
Cavallaro, Angela, Rizzo, Serena, Plescia, Fulvio, Salvago, Pietro, Brancato, Anna, Lavanco, Gianluca, Sireci, Federico, Mucia, Marianna, Dispenza, Francesco, Passalacqua, Maria Ilenia, Cannizzaro, Carla   +10 more
core  

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Collaboration, participation and non-participation: decisions about involvement in randomised controlled trials for clinicians and parents in two neonatal trials [PDF]

Background: The ethical basis of randomised controlled trials is equipoise, whether at the collective or individual level. Neonatal intensive care trials are therefore conducted in a context of clinical uncertainty as well as stress
Snowdon, Claire
core   +1 more source