Results 61 to 70 of about 159,974 (289)

Diagnostic Value Parameters Of Acute Phase Reactances Of Infectious-inflammatory Process In Diagnostics Of Early Neonatal Sepsis [PDF]

, 2018
An advanced progress of clinical neonatology in recent years has enabled to achieve considerable success in newborn management with due respect to both medical treatment and general care, especially in the group of neonates with low body weight at birth.
Bezrukov, L. (Leonid), Koloskova, O. (Olena), Vlasova, O. (Olena)   +2 more
core   +2 more sources

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Hipotermia terapêutica em pacientes com asfixia neonatal - Estudo transversal em UTI neonatal do Sul do Brasil

Residência Pediátrica, 2023
INTRODUCTION: Neonatal asphyxia causes a large part of infant deaths, especially during the perinatal period. In addition to the high mortality rate, it is also responsible for the majority of brain disabilities in patients born at term.
Mariana Martins Denicol, Marcelo de Freitas Calegari, Cátia Rejane Soares de Soares, Valéria Raymundo Fonteles Ritter   +3 more
doaj   +1 more source

Training the Fetal Immune System Through Maternal Inflammation-A Layered Hygiene Hypothesis. [PDF]

, 2020
Over the last century, the alarming surge in allergy and autoimmune disease has led to the hypothesis that decreasing exposure to microbes, which has accompanied industrialization and modern life in the Western world, has fundamentally altered the immune
Apostol, April C, Beaudin, Anna E, Jensen, Kirk DC   +2 more
core  

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Observación clínica de recién nacidos con factores de riesgo infeccioso, una práctica segura

Anales de Pediatría, 2018
Resumen: Introducción: La sepsis vertical precoz es una causa importante de morbimortalidad neonatal. La evidencia científica apunta a que la mayoría de los recién nacidos infectados presentan clínica en las primeras horas de vida. Tras la aplicación de
Carla Escribano García, María del Mar Montejo Vicente, Raquel Izquierdo Caballero, Carmen María Samaniego Fernández, Sara Isabel Marín Urueña, María Elena Infante López, Sonia Caserío Carbonero   +6 more
doaj   +1 more source

Committing to Child Survival: A Promise Renewed Progress Report 2015 [PDF]

, 2015
Twenty-five years ago this month, when the Convention on the Rights of the Child came into force, the world made a promise to its children. It was a promise to do everything we could to keep them alive, to keep them healthy, and to help them realize ...

core  

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Effectiveness of a Multifactorial Intervention in the First 1000 Days of Life to Prevent Obesity and Overweight in Childhood: Study Protoco [PDF]

, 2020
(1) Background: Obesity is a global health problem, and its prevention must be a priority goal of public health, especially considering the seriousness of the problem among children.
Bas Sarmiento, María del Pilar, Díaz Rodríguez, Mercedes, Fernández Gutiérrez, Martina, Ferriz Mas, Bernardo C., Lendínez de la Cruz, José Manuel, Pérez Muñoz, Celia   +5 more
core   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source