Results 71 to 80 of about 26,942 (220)

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

Persistent Pulmonary Atelectasis After Tracheoesophageal Fistula Repair: Diagnostic Challenge of a Communicating Bronchopulmonary Foregut Malformation Group 1a in a Neonate With VACTERL Association

The Kaohsiung Journal of Medical Sciences, EarlyView.
Tien‐Pai Huang, Twei‐Shiun Jaw, Yu‐Tang Chang, Yu‐Han Chen   +3 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Interrupted Aortic Arch Associated with AP Window and Complex Cardiac Anomalies: Multi Detector Computed Tomography Findings

Eurasian Journal of Medicine, 2019
Interrupted aortic arch is a rare congenital malformation of the aortic arch defined as a loss of luminal continuity between the ascending and descending portions of the aorta.
Ummugulsum Bayraktutan, Mecit Kantarci, Naci Ceviz, Ihsan Yuce, Hayri Ogul, M. Erdem Sagsoz, Idris Kaya   +6 more
doaj   +1 more source

3D transparent technology displays the developmental patterns of ductus arteriosus morphology in chicken embryos before and after birth

Journal of Anatomy, EarlyView.
At the eighth week of human embryonic development, 3D transparent imaging enables clear visualization of the outflow tract's morphological features, revealing its anatomical components in detail. Abstract The ductus arteriosus (DA) is a critical fetal vascular structure that shunts blood from the pulmonary artery to the aorta, bypassing the non ...
Conghong Xu, Lidi Li, Xiu Wu, Yanli Zhang, Chuanye Wu, Juan Chen, Haihua Gao, Zhenglai Ma   +7 more
wiley   +1 more source

Retinopathy of Prematurity Is Associated With Reduced Thalamic Volume and Impaired Neurodevelopment. A Cohort Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Retinopathy of prematurity (ROP) is a neurovascular disorder that may affect not only the retina but also the brain structures involved in visual processing. The relationship between ROP severity and the volumetric development of these regions remains unclear.
Jose Uberos, Marta Carrasco‐Solis, Carolina Laynez‐Rubio, Ana Nieto‐Ruiz, Aida Ruiz‐López, Francisco Contreras‐Chova, Elizabeth Fernández‐Marin, Ana Campos‐Martínez, Jose Luis García‐Serrano   +8 more
wiley   +1 more source

Management of Congenital Complete Atrioventricular Block in Preterm Neonates With Novel Pacing Method

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Congenital complete atrioventricular block (CCAVB) is a rare autoimmune mediated disorder with a guarded prognosis, particularly when associated with extreme prematurity and severe bradycardia. Recent advances in neonatal care for extremely premature infants with delivery at level IV neonatal intensive care unit and novel pediatric pacing ...
Anusha Bai Kalithkar, Rodrigo Ruano, Leonardo Mulinari, Steven Fishberger, Sethuraman Swaminathan, Ileana Torres‐Burgos   +5 more
wiley   +1 more source

Optimising the workflow for infant ABO blood typing: The role of automated analyser and a manual reflex protocol

Transfusion Medicine, EarlyView.
Abstract Objectives We aimed to optimise the infant ABO typing workflow by evaluating the performance of the ORTHO VISION analyser (VISION; QuidelOrtho, San Diego, CA, USA) and establishing a targeted manual reflex protocol. Background The application of automated analysers in infants poses challenges due to weak antigen and antibody expression ...
Eunhui Ji, Seung Hwan Oh, Sun Min Lee, In‐Suk Kim, Hyun Ji Lee   +4 more
wiley   +1 more source

Device Closure of Hemodynamically Significant Patent Ductus Arteriosus in Premature Infants

JACC: Advances
The patent ductus arteriosus is a very common condition in preterm infants, and a hemodynamically significant patent ductus arteriosus increases morbidity and mortality in these vulnerable patients. However, despite numerous randomized controlled trials,
Alban-Elouen Baruteau, MD, PhD, Mathilde Méot, MD, Nadir Benbrik, MD, Céline Grunenwald, MD, Naychi Lwin, MD, Juliana Patkai, MD, Jean-Christophe Rozé, MD, Damien Bonnet, MD, PhD, Sophie Malekzadeh-Milani, MD   +8 more
doaj   +1 more source