Results 251 to 260 of about 433,497 (298)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

Meeting the Needs of Aboriginal and Torres Strait Islander People With Hearing Loss in the Context of the National Disability Insurance Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack   +4 more
wiley   +1 more source

Aboriginal and Torres Strait Islander Perspectives in Drinking Water Policy: A Realist Review

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander cultures have a deep, enduring connection to water. However, since Australia's colonisation in 1788, water management has shifted, creating ongoing issues for these communities. Notwithstanding the universal recognition of safe drinking water as a human right, significant inequities persist, particularly ...
Margaret Apolima Fono   +8 more
wiley   +1 more source

The Physical and Mental Health of Mothers of Aboriginal Children in Out‐of‐Home Care in Western Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT There is a need to better understand the physical and mental health of mothers of Aboriginal children who enter out‐of‐home care to prevent removals. Evidence suggests that families involved in child protection systems often experience significant needs that may culminate in child removals.
Fernando Lima   +11 more
wiley   +1 more source

Granulomatosis with polyangiitis presenting as isolated ear involvement: a case series and literature review. [PDF]

open access: yesActa Otorhinolaryngol Ital
Zorzi S   +8 more
europepmc   +1 more source

Associations of Historic Residential Pesticide Proximity With Proinflammatory Cytokine Levels in a Patient Population With and Without Chronic Rhinosinusitis (CRS)

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Residential proximity to commercial pesticide application has been associated with increased odds of developing chronic rhinosinusitis (CRS) with in vitro studies demonstrating cytotoxic dose‐dependent effects on sinonasal epithelia.
Melodyanne Y. Cheng   +8 more
wiley   +1 more source

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