Results 61 to 70 of about 132,089 (282)

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales   +6 more
wiley   +1 more source

Patient management and principles of nutritional therapy in premature infants at the pediatric department [PDF]

open access: yesРМЖ. Мать и дитя
L.A. Fedorova St. Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation The advancement of perinatal care and neonatal technologies has led to an increase in the premature infant survival rate, including those with ...
L.A. Fedorova
doaj  

Pediatric Specialists' Beliefs About Gastroesophageal Reflux Disease in Premature Infants [PDF]

open access: yesPediatrics, 2010
BACKGROUND: Wide variation exists in the treatment of suspected gastroesophageal reflux disease (GERD) in premature infants; it is unknown to what degree diagnosis and treatment are affected by the treating physician's medical specialty or interpretation of the medical literature.
Catherine A, Golski   +6 more
openaire   +2 more sources

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

open access: yes, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P   +6 more
core   +1 more source

Sequelae of premature birth in young adults [PDF]

open access: yes, 2020
Background and Purpose Qualitative studies about the abnormalities appreciated on routine magnetic resonance imaging (MRI) sequences in prematurely born adults are lacking. This article aimed at filling this knowledge gap by (1) qualitatively describing
Bartmann, Peter   +11 more
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

YEARS OF POTENTIAL LIFE LOST AMONG THE POPULATION: IS YPLL ANALYSIS A HELPFUL TOOL?

open access: yesZbornik Radova: Geografski institut "Jovan Cvijić", 2022
Mortality is one of the key determinants of the demographic development of the Republic of Srpska (RS). In the last 20 years, there has been an increase in the mortality rate, especially in the older population.
Aleksandar Majić, Draško Marinković
doaj   +1 more source

Ambient Air Toxic Releases and Adverse Pregnancy Outcomes in Allegheny County, Pennsylvania [PDF]

open access: yes, 2009
Previous studies have shown that women exposed to certain air pollutants are at an increased risk for preterm delivery and/or delivering a low birth weight newborn. Preterm delivery and low birth weight are associated with an increased risk for morbidity
Carman, April E
core  

Long-term continuous monitoring of the preterm brain with diffuse optical tomography and electroencephalography: A technical note on cap manufacturing [PDF]

open access: yes, 2016
open12noDiffuse optical tomography (DOT) has recently proved useful for detecting whole-brain oxygenation changes in preterm and term newborns' brains.
Amodio, Piero   +11 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

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