Results 71 to 80 of about 15,201 (209)

Prevalence of unilateral hearing loss among kindergarteners aged 3-6 years in Hamadan city, 2012

open access: yesپژوهان, 2012
Introduction: Unilateral hearing loss has devastating effects on sound localization, speech understanding in adverse listening conditions, academic achievement, behavior and learning of Hearing impaired children.
Atta Heidari, Ayub Valadbeigi
doaj  

Improved Speech Recognition in Adults With Conductive or Mixed Hearing Loss Using a Direct-to-Consumer Bone-Conduction Device: A Multiple Methods Intervention Study

open access: yesJMIR Rehabilitation and Assistive Technologies
BackgroundHearing loss affects 20% of the global population, including 250 million experiencing chronic suppurative otitis media, which can present challenges for conventional hearing aids due to ear discharge.
Thomas Hampton   +5 more
doaj   +1 more source

Improving access to new technologies: An experiment with Kenyan input sellers

open access: yesAmerican Journal of Agricultural Economics, EarlyView.
Abstract Agrodealers play a critical role in rural economies, selling essential inputs for agricultural production, stocking new products, and providing farmers with technical advice. However, uncertainty can discourage them from stocking newer, less familiar products, limiting the availability of innovative technologies and leading to market failures ...
Sarah W. Kariuki   +6 more
wiley   +1 more source

NO NĀ PUA: Exploring the feasibility of culture‐based social prescribing on firefighters' wellbeing in Hawaiʻi

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Firefighters face an array of stressors due to the demands of their occupation, leading to a high prevalence of mental health challenges. Social prescribing represents a novel approach to healthcare that emphasizes a holistic view of health and wellbeing.
Janice Ikeda   +2 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas   +6 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan   +5 more
wiley   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila   +3 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes   +5 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

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

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