Results 151 to 160 of about 35,837 (293)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa   +23 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura   +2 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington   +2 more
wiley   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz   +7 more
wiley   +1 more source

An Analysis of the Effects of Organizational Trust on Organizational Commitment Components along with the Moderating Role of National Identity among Employees of Mortaz Hospital, Yazd [PDF]

open access: yesRāhburdhā-yi Mudīriyyat dar Niẓām-i Salāmat
Background: Today, organizational commitment is regarded as one of the most important motivational issues in organizations. Organizational commitment refers to the extent of employees’ psychological attachment, loyalty, and willingness to invest effort ...
Mohsen Forghani, Elham Alsadat Dashti
doaj  

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi   +6 more
wiley   +1 more source

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