Results 141 to 150 of about 1,277,264 (308)

A community‐driven approach to address substance use and create a Great Plains American Indian addiction and recovery research agenda

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Substance use, specifically opioid and methamphetamine use, is of increasing concern among American Indian (AI) populations in the Great Plains. This community‐driven participatory study investigated the impacts of substance use and community‐defined needs in treating addiction.
Brynn Luger   +8 more
wiley   +1 more source

Exploring the experiences and outcomes of advantaged and disadvantaged families [PDF]

open access: yes, 2008
This report provides further evidence of the interrelationship between age, young motherhood, family type and a range of measures of socio-economic advantage and disadvantage.
Bradshaw, Paul   +2 more
core  

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

Parental Job Loss and Children’s Health: Ten Years after the Massive Layoff of the SOEs’ Workers in China [PDF]

open access: yes
Beginning in the mid 1990s, China sped up its urban labor market reform and drastically restructured its state-owned enterprises (SOEs), which resulted in massive layoff of the SOEs' workers and a high unemployment rate. In this paper, we investigate the
Liu, Hong, Zhao, Zhong
core  

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

An action plan to assess the current situation of maternal & newborn care at government health facilities in Jharkhand, India [PDF]

open access: yes
Maternal and child health care especially safe motherhood services are an important factor in the primary health care and are the responsibility of the government and ministry of health.
Kumar, Sudesh, Singh, Janet
core   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill   +5 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

Endogenous Women's Autonomy and the Use of Reproductive Health Services: Empirical Evidence from Tajikistan [PDF]

open access: yes
Though gender equity is widely considered to be a key to improving maternal health in developing countries, little empirical evidence has been presented to support this claim.
Yusuke Kamiya
core  

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