Results 91 to 100 of about 113,937 (235)

Digital speech hearing screening using a quick novel mobile hearing impairment assessment: an observational correlation study

Scientific Reports
By 2050, 1 in 4 people worldwide will be living with hearing impairment. We propose a digital Speech Hearing Screener (dSHS) using short nonsense word recognition to measure speech-hearing ability. The importance of hearing screening is increasing due to
Russell Banks, Barry R. Greene, Isaiah Morrow, Marissa Ciesla, David Woolever, Sean Tobyne, Joyce Gomes-Osman, Ali Jannati, John Showalter, David Bates, Alvaro Pascual-Leone   +10 more
doaj   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Hearing and vision impairment and social isolation over 8 years in community-dwelling older adults

BMC Public Health
Background Little is known about the long-term impact of hearing and vision impairment on social isolation. This study quantifies the association between hearing, vision, and concurrent hearing and vision impairment (dual sensory impairment) and social ...
Alison R. Huang, Thomas K. M. Cudjoe, George W. Rebok, Bonnielin K. Swenor, Jennifer A. Deal   +4 more
doaj   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source

Understanding Youth Assaults of Police Officers in Australia: A Power Threat Meaning Framework Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explores youth violence towards police officers in Australia through the Power Threat Meaning Framework (PTMF) to better understand the underlying factors contributing to such violence; focusing on power dynamics, childhood adversity, and trauma.
Dimitra Lattas, Kelly Hine, Catherine Creamer, Kelley Burton, Katelyn Davenport‐Klunder   +4 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

Australian 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, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source