Results 191 to 200 of about 384,617 (310)

Re-examining the Effects of Medicaid Expansions for Pregnant Women [PDF]

open access: yes
This paper analyzes the effect of Medicaid eligibility expansions on the health insurance coverage of women giving birth and on the use of prenatal care and infant health, controlling for year and state effects and state-specific trends that may be ...
Kosali I. Simon   +3 more
core  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Protocol for the Feasibility, Acceptability, and Preliminary Efficacy Trial of text4FATHER for Improving Underserved Fathers' Involvement in Infant Care. [PDF]

open access: yesJ Health Care Poor Underserved, 2021
Marcell AV   +7 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Short and long-term relationship between physician density on infant mortality: a longitudinal econometric analysis [PDF]

open access: yes
While countries with higher levels of human resources for health typically have better population health, the evidence that increases in the level of human resources for health leads to improvements in population health is limited.
Mansour Farahani   +2 more
core  

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

The Disease Pattern and Utilisation of Health Care Services in Pakistan [PDF]

open access: yes
Health is an important aspect of human life. In general terms, better health status of individuals reflects reduced illnesses, low level of morbidity, and less burden of disease in a given population. It is widely recognised that improved health not only
Syed Mubashir Ali, Naushin Mahmood
core  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

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