Results 71 to 80 of about 461,229 (347)

Addressing Anemia in High‐Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions

open access: yesAmerican Journal of Hematology, EarlyView.
Key challenges in diagnosing anemia in high‐altitude populations include variability in hemoglobin (Hb) concentration, associated pathological conditions, altitude‐induced plasma volume changes, and environmental factors such as contamination and nutrition.
Ayoub Boulares   +11 more
wiley   +1 more source

Health disparities in chronic liver disease

open access: yesHepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian   +3 more
wiley   +1 more source

Assimilation effects on infant mortality among immigrants in Norway: Does maternal source country matter?

open access: yesDemographic Research, 2014
Background: Assimilation models of infant outcomes among immigrants have received considerable attention in the social sciences. However, little effort has been made to investigate how these models are influenced by the source country.
Jonas Kinge, Tom Kornstad
doaj   +1 more source

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

open access: yesHepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel   +93 more
wiley   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque   +7 more
wiley   +1 more source

Determinants of infant and child mortality in Zimbabwe: Results of multivariate hazard analysis [PDF]

open access: yes
This study addresses important issues in infant and child mortality in Zimbabwe. The objective of the paper is to determine the impact of maternal, socioeconomic and sanitation variables on infant and child mortality. Results show that births of order 6+
Jeroen K Van Ginneken, Joshua Kembo
core  

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

The Chilean infant mortality decline: improvement for whom? Socioeconomic and geographic inequalities in infant mortality, 1990-2005

open access: yesBulletin of the World Health Organization
OBJECTIVE: To measure socioeconomic inequalities and differential risk in infant mortality on national and regional levels in Chile from 1990 to 2005, and propose new policy targets.
Alexander Warren Hertel-Fernandez   +2 more
doaj   +1 more source

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