Results 91 to 100 of about 132,089 (282)

The Neonatal Microbiome and Necrotizing Enterocolitis. [PDF]

open access: yes, 2010
Necrotizing enterocolitis (NEC) is a devastating disorder that affects approximately 10% of premature infants. Its mortality remains high (15-30%), and its cause remains unknown.
Aaron Hamvas   +7 more
core   +2 more sources

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

The burden of premature mortality in Poland analysed with the use of standard expected years of life lost [PDF]

open access: yes, 2015
Background: Despite positive changes in the health of the population of Poland, compared to the EU average, the average life expectancy in 2011 was 5 years shorter for males and 2.2 years shorter for females.
Bryła, Marek   +3 more
core   +2 more sources

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan   +23 more
wiley   +1 more source

Tamponamento cardíaco por cateter central de inserção periférica em prematuros: papel da ultrassonografia à beira do leito e abordagem terapêutica.

open access: yesRevista do Colégio Brasileiro de Cirurgiões, 2018
RESUMO Objetivo: determinar a incidência de derrame pericárdico com tamponamento cardíaco em recém-natos prematuros em uma unidade de terapia intensiva pediátrica, com ênfase na relação entre o derrame pericárdico e a inserção de cateter central de ...
Livia Lopes Barreiros   +5 more
doaj   +1 more source

Epilepsy syndromes classification

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell   +4 more
wiley   +1 more source

U.S. Health Care Spending: Comparison with Other OECD Countries [PDF]

open access: yes, 2007
[Excerpt] The United States spends more money on health care than any other country in the Organization for Economic Cooperation and Development (OECD).
Burton, Rachel, Peterson, Chris L.
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

Selenium deficiency and the effects of supplementation on preterm infants

open access: yesRevista Paulista de Pediatria, 2014
Objective: This study aimed to review the literature about blood concentrations of selenium associated with gestational age, feeding, supplementation and related clinical features in preterm infants.
Renata Germano B. O. N. Freitas   +4 more
doaj   +1 more source

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