Results 91 to 100 of about 11,331,211 (305)

Behaviour and weight gain in early infancy [PDF]

open access: yes, 2000
Slow weight gain in infancy is the core sign of failure to thrive. However, it is far from clear what the cause of the slow weight gain in infancy is. Failure to thrive is mostly identified late in the first year at which time it becomes problematic to ...
Molkenboer, A.E.   +1 more
core  

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

Economic Crises, Maternal and Infant Mortality, Low Birth Weight and Enrollment Rates: Evidence from Argentina’s Downturns [PDF]

open access: yes
Este estudio investiga el impacto de las recientes crisis en Argentina (incluyendo la grave recesión de 2001-2002) en la salud y la educación. La estrategia de identificación se basa en la covarianza entre los cambios en el PIB regional y los resultados ...
Pablo Glüzman   +2 more
core  

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

Interpersonal relationships between professionals and mothers of premature from Kangaroo-Unit [PDF]

open access: yesRevista Brasileira em Promoção da Saúde, 2010
Objective: To understand the interpersonal relationships between professionals and mothers of premature newborns of the Kangaroo Unit. Methods: This was an exploratory study of qualitative approach.
Francisca Eliene de Oliveira Callou   +3 more
doaj  

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

Medicaid Managed Care and Infant Health: A National Evaluation [PDF]

open access: yes
In this study, we examine the effects of Medicaid managed care (MMC) on prenatal care utilization and infant health. We obtain separate estimates of the effect of primary care case management (PCCM) managed care programs and HMO managed care plans on ...
Lisa Dubay   +2 more
core  

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale   +2 more
wiley   +1 more source

Mother's education and birth weight [PDF]

open access: yes
Low birth weight has considerable short and long-term consequences and leads to high costs to the individual and society even in a developed economy.
Vincent O'Sullivan, Arnaud Chevalier
core  

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