Results 61 to 70 of about 35,899 (261)

CLINICAL AND BIOCHEMICAL DESCRIPTION OF PREMATURE INFANTS WITH EXTREMELY LOW AND VERY LOW BIRTH WEIGHT

Педиатрическая фармакология, 2013
The purpose of this work was to study the levels of neurotrophic factor nerve growth of the brain, the levels of vascular endothelial growth factor, the levels of neurospecific enolase and the activity of endothelin-1 in the serum of blood in preterm ...
I. V. Mikhalenko, E. V. Mikhalev, S. P. Ermolenko   +2 more
doaj   +1 more source

Artificial Intelligence for Benign Esophageal Stricture Dilation: An Evidence‐Transferability Framework and Safety‐First Roadmap

AI &Innovation, EarlyView.
ABSTRACT Background Endoscopic dilation is first‐line therapy for symptomatic benign esophageal strictures but remains operator‐dependent. Artificial intelligence (AI) could support assessment, risk stratification, and documentation; however, evidence from adjacent tasks is often mistaken for procedure‐specific validation.
Ahmed A. Salman, Mohamed A. Salman
wiley   +1 more source

NO NĀ PUA: Exploring the feasibility of culture‐based social prescribing on firefighters' wellbeing in Hawaiʻi

American Journal of Community Psychology, EarlyView.
Abstract Firefighters face an array of stressors due to the demands of their occupation, leading to a high prevalence of mental health challenges. Social prescribing represents a novel approach to healthcare that emphasizes a holistic view of health and wellbeing.
Janice Ikeda, Margary Martin, Misty Pacheco   +2 more
wiley   +1 more source

PERINATAL TRIGLYCERIDE AND CHOLESTEROL METABOLIC DISTURBANCES IN NEWBORN INFANTS

Общая реаниматология, 2016
Objective. Investigate the impact of the course of pregnancy and labor on some lipid metabolic disturbances in newborn infants.Subjects and methods. The anamnestic data of the course of pregnancy, which were used to identify a high risk for intranatal ...
S. A. Perepelitsa, O. V. Sednev
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

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

Role of nasal high-frequency oscillatory ventilation in a premature infant with severe bronchopulmonary dysplasia

Respiratory Medicine Case Reports
To prevent the worsening of bronchopulmonary disease (BPD), early extubation is desirable. However, in extremely preterm infants, BPD tends to become severe, making early extubation difficult and leading to prolonged intubation.
Akiho Ueda-Kuramochi, Kazumi Morisawa, Takeshi Arimitsu, Kazuma Shimura, Kaori Hara-Isono, Takane Kin, Mariko Hida   +6 more
doaj   +1 more source

The association of early postnatal weight loss with outcome in extremely low birth weight infants

Pediatrics and Neonatology, 2019
Background: To compare outcomes of extremely low birth weight (ELBW) infants having different weight losses in the first 3 days of life. Methods: One hundred and twenty six ELBW infants were evaluated retrospectively for weight loss percentages on the ...
Hatice Tatar Aksoy, Nilüfer Güzoğlu, Zeynep Eras, İsmail Kürşad Gökçe, Fuat Emre Canpolat, Nurdan Uraş, S. Suna Oğuz   +6 more
doaj   +1 more source