Results 81 to 90 of about 55,610 (296)

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

Age at Fitting Affected Unilateral Versus Bilateral Hearing Aids Choice in Asymmetric Hearing Loss

, 2023
BACKGROUND: Bilateral hearing aids are desirable to restore hearing in the most effective and natural way. The aim of the present study was to identify which type of hearing rehabilitation was preferred by our patients and which factors drove their ...
de Filippis C., Cinquemani P., Frosolini A., Lovato A.   +3 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

International Archives of Otorhinolaryngology, 2013
Background Harboyan syndrome, defined as congenital corneal dystrophy associated with progressive sensorineural hearing loss, was first described by Harboyan in 1971.
Lauren Medeiros Paniagua, Maria Elza Kazumi Yamaguti Dorfman, Luiz Lavinsky, Pricila Sleifer   +3 more
doaj   +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

Stronger Futures in the Northern Territory: hearing health services 2012-2013 [PDF]

, 2014
Summary: This report presents data on the hearing health services delivered under the National Partnership Agreement on Stronger Futures in the Northern Territory (SFNT) during 2012-13.

core  

From Material Tensions to Organizational Paradoxes: How Manufacturers Cope With the Limits of Circular Product Design

Business Strategy and the Environment, EarlyView.
ABSTRACT Circular product design (CPD) is central to advancing the circular economy by enabling the narrowing, slowing, and closing of resource flows. Yet, its implementation remains persistently challenging for firms. Prior research has largely framed these challenges as discrete barriers, overlooking the structural contradictions embedded in CPD ...
Vanessa Robertson, Nelly Rahimy, Suleika Bort   +2 more
wiley   +1 more source

Current requirements for early hearing detection and intervention at bilateral congenital hearing loss

, 2019
Oboustranná vrozená sluchová vada je pro dítě vážným (často i celoživotním) hendikepem, především pro omezený příjem informací, pro vývoj řeči, odlišný způsob komunikace, omezení sociálních vztahů včetně edukace a následného životního a pracovního ...
Viktor Chrobok, Arnošt Pellant, Bendová, Petra, Chrobok, Viktor, Vít Blanař, Pellant, Arnošt, Škvrňáková, Jana, Dršata, Jakub, Blanař, Vít, Petra Bendová, Jakub Dršata, Jana Škvrňáková   +11 more
core   +1 more source

A Predictive Model of Bilateral Sensorineural Hearing Loss in Meniere Disease Using Clinical Data

, 2021
Objectives: Meniere disease (MD) is defined by a clinical syndrome of recurrent attacks of spontaneous vertigo associated with tinnitus, aural fullness, and sensorineural hearing loss (SNHL).
Di Berardino, Federica, Torres-Garcia, Lidia, Trinidad-Ruiz, Gabriel, Lopez-Escamez, Jose A, Natalia Castillo-Ledesma, Gonzalez-Aguado, Rocio, Moleon, M D Carmen, M. D. Carmen Moleon, Angel Batuecas-Caletrio, Batuecas-Caletrio, Angel, Magnoni, Laura, Vanesa Perez-Guillen, Laura Magnoni, Marcos Rossi, Gabriel Trinidad-Ruiz, Perez-Guillen, Vanesa, Federica Di Berardino, Jose A. Lopez-Escamez, Rocio Gonzalez-Aguado, Lidia Torres-Garcia, Castillo-Ledesma, Natalia, Rossi, Marcos   +21 more
core   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source