Results 111 to 120 of about 17,307 (299)

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

Understanding Hearing and Hearing Loss in Children With Down Syndrome

, 2017
Purpose This study evaluated the prevalence of permanent and transient hearing loss, the use of hearing aids as a recommendation, and middle ear dysfunction in children with Down syndrome (DS) through a large multiage and ...
Emily Nightengale, Dee Daniels, Fran Hickey, Patricia Yoon, Kristy Wolter-Warmerdam   +4 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

Evaluation of Conductive Hearing Loss in Patients with Nasopharyngeal Obstruction in a Tertiary Care Setup of Karachi

Annals of Abbasi Shaheed Hospital and Karachi Medical & Dental College
Objective: To evaluate the frequency and severity of conductive hearing loss in patients with nasopharyngeal obstruction, admitted in tertiary care setup of Karachi. Methods: It was a descriptive cross-sectional type of study.
sana mehfooz, Areej Iqrar, Zeba Ahmed, Tariq Zahid Khan, Rajesh Kumar Vasandani, Tehmina Junaid   +5 more
doaj   +1 more source

Sitting in Many Camps—Innovative Approaches and Methods for First Nations‐Led Research Into Indigenous Peacebuilding

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2021, a desktop review was conducted of published references to First Nations peoples' approaches to conflict and its management in Australia (Project Stage One), culminating in a report published in 2024. This article focuses on Project Stage Two, a complex, innovative research undertaking building on the findings of Stage One, and being ...
Helen Bishop, Alysoun Boyle, Tania Sourdin, Bin Li   +3 more
wiley   +1 more source

Forest plot of meta-analysis of functional gain outcomes (FG) for patients with conductive hearing loss (CHL), conductive and mixed hearing loss (C/MHL) and single-sided Deafness (SSD).

, 2019
Forest plot of meta-analysis of functional gain outcomes (FG) for patients with conductive hearing loss (CHL), conductive and mixed hearing loss (C/MHL) and single-sided Deafness (SSD).
Astrid Magele (7388003), Bernhard Gradl (7388012), Georg Mathias Sprinzl (7388015), Barbara Stanek (7388009), Philipp Schoerg (7388006)   +4 more
core   +1 more source