Results 111 to 120 of about 334,678 (236)

Integration of ear and hearing care services in low- and middle-income health systems: a systematic review and qualitative synthesis. [PDF]

Glob Health Action
de Kock C, Gilson L.
europepmc   +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

Severe self-limiting acute bilateral hearing loss following a low dose of methylphenidate for ADHD treatment: A case report. [PDF]

PCN Rep
Zandifar A, Badrfam R.
europepmc   +1 more source

Advancing Clinical Research

Advanced Science, EarlyView.
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

A plasma metabolomic fingerprint of moderate or severe hearing loss. [PDF]

Metabolomics
Li Y, Balasubramanian R, Welling DB, Stankovic KM, Zeleznik OA, Curhan G, Curhan S.   +6 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Detection of hearing loss by formal audiological testing after acute infectious meningitis: a global systematic review and meta-analysis. [PDF]

BMC Med
Alviz LF, Kim CY, Benevides-Tadinac AC, Roberts JA, Monette LE, Harrer CE, Varela FJ, Hwang SA, Gebresilassie BM, Balcarce P, Prasad M, Usseglio J, Kothari KU, Venuti F, Schiess N, Gadama Y, Binello N, Chadha S, Dua T, Thakur KT.   +19 more
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

From silence to sound: A journey through hearing loss, advocacy and academia. [PDF]

Afr J Disabil
Kriel H, Kriel-Kruger MM.
europepmc   +1 more source