Results 231 to 240 of about 965,870 (302)

Agricultural Injuries With Dementia: Double Whammy?

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Nearly 40% of US farmers are over 65 years old. Some emerging evidence links agricultural occupational exposure to increased dementia risk. However, little is known about dementia and injury outcomes in agricultural settings. Methods We employed data from the American College of Surgeons Trauma Quality Programs Participant Use File (
Kanika Arora   +3 more
wiley   +1 more source

Cultural, socioeconomic, and demographic factors contributing to child mortality: evidence from Sierra Leone demographic and health survey 2019. [PDF]

open access: yesBMC Public Health
Zahangir MS   +7 more
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden   +2 more
wiley   +1 more source

A critical pathway to reducing maternal, newborn and child mortality. [PDF]

open access: yesBull World Health Organ
Langlois EV   +3 more
europepmc   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

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

Factors contributing to under-5 child mortality in Nigeria: A narrative review. [PDF]

open access: yesMedicine (Baltimore)
Olawade DB   +6 more
europepmc   +1 more source

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