Results 121 to 130 of about 98,680 (342)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Hemitruncus Arteriosus in a 10-Day-Old Neonate with Patent Ductus Arteriosus and Thrombocytopenia

Vascular Health and Risk Management, 2020
Ali Zolfi-Gol,1 Mohammad Radvar,1 Amin Sedokani2 1Department of Pediatrics, Pediatric Cardiology, Urmia University of Medical Sciences, Urmia, Iran; 2Student Research Committee, Urmia University of Medical Sciences, Urmia, IranCorrespondence: Amin ...
Zolfi-Gol A, Radvar M, Sedokani A
doaj  

Ibuprofen for Ductus Arteriosus Months after Birth

Case Reports in Pediatrics, 2016
Ibuprofen is a well-known agent used to treat patent ductus arteriosus in preterm neonates in the first days of life. In the current case report we illustrate the potential use of ibuprofen in two preterm neonates 60 and 88 days after birth, respectively.
Odile Frauenfelder, Ingrid M. van Beynum, Irwin K. M. Reiss, Sinno H. P. Simons   +3 more
doaj   +1 more source

Hyperglycemia as an atypical finding of malignant hyperthermia: A case report and literature review

Journal of Diabetes Investigation, EarlyView.
A 13‐month‐old toddler presented with an atypical symptom – hyperglycemia – during a malignant hyperthermia crisis. During MH, hyperglycemia may result from intracellular calcium leakage in muscle cells, suggesting a potential association between MH susceptibility and hyperglycemia.
Huai‐Jhih Sun, Yuan‐Yi Chia, Yung‐Yun Huang, Jun‐Chen Sun, Chun‐Hsien Wen   +4 more
wiley   +1 more source

Comparison of Oral Acetaminophen Versus Ibuprofen in Premature Infants With Patent Ductus Arteriosus

Iranian Journal of Pediatrics, 2016
Background Patent ductus arteriosus (PDA) is a common cause of morbidity. The aim of this study was to compare the efficacy of oral Acetaminophen and oral Ibuprofen for the closure of patent ductus arteriosus (PDA) in preterm infants.
M. Bagheri, P. Niknafs, Fatemeh Sabsevari, M. H. Torabi, Bahareh Bahman Bijari, Elahe Noroozi, Hamid Mossavi   +6 more
semanticscholar   +1 more source

Predictive Performance of Device‐Neonatal Skin Risk Assessment Scale to Evaluating Pressure Injuries Risk in the Neonates. An Observational Multicenter Study

Journal of Clinical Nursing, EarlyView.
ABSTRACT Aim To assess the validity of a modified Neonatal Skin Risk Assessment scale (Dev‐NSARS) for neonatal pressure injuries (PIs) in the neonatal intensive care unit (NICU) and neonatal sub‐intensive care unit (NICU‐Sub) environment. Background Medical devices are the leading cause of pressure injuries (PIs) in neonates, a key cause of morbidity ...
Biagio Nicolosi, Elisa Neri, Leonardo Fioravanti, Silvia Leoncini, Claudio De Felice, Pablo Garcìa‐Molina, Alessandra Mugnaini   +6 more
wiley   +1 more source

Fluid and electrolyte balance during the first week of life and risk of bronchopulmonary dysplasia in the preterm neonate

Clinics, 2010
BACKGROUND: Early fluid and electrolyte imbalances may be associated with an increased risk of bronchopulmonary dysplasia. OBJECTIVE: We sought to establish an association between fluid and electrolyte balance in the first week of life and the risk of ...
Gustavo Rocha, Orquídea Ribeiro, Hercília Guimarães   +2 more
doaj   +1 more source

Yunis Varon Syndrome [PDF]

, 2010
We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Dal, SI, Parmar, P
core   +1 more source

Pathology and molecular mechanisms of coarctation of the aorta and its association with the ductus arteriosus

Journal of Physiological Sciences, 2017
Coarctation of the aorta (CoA) is defined as a congenital stenosis of the thoracic aorta and is one of the most common congenital cardiovascular diseases.
U. Yokoyama, Y. Ichikawa, S. Minamisawa, Y. Ishikawa   +3 more
semanticscholar   +1 more source

Evaluation of Modified Fasting Protocols to Shorten Fasting Time Before Sedation in Children: A Prospective Randomized Noninferiority Trial

Pediatric Anesthesia, EarlyView.
ABSTRACT Backgrounds Guidelines for fasting before procedural sedation aim to prevent pulmonary aspiration and are primarily targeted for deep sedation. Our study explored whether a shortened fasting protocol is noninferior to the standard protocol by comparing gastric contents evaluated by ultrasound.
Eunah Cho, Jinyoung Song, June Huh, I‐Seok Kang, Hyun Ju Kim, In Young Youn, Hyebin Lee, Ji Hee Kwak   +7 more
wiley   +1 more source