Results 101 to 110 of about 35,803 (307)

Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview [PDF]

, 2013
The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction.
Martines, E, Martines, F, Salvago, P
core   +1 more source

Collaborating with transnational families: Learning from the experiences of family caretakers, educators, psychologists, and spiritual leaders in Honduras

American Journal of Community Psychology, EarlyView.
Abstract This manuscript centers on the experiences of caretakers of minors in Honduran transnational families (TNFs) in which one or both parents emigrated, and of the schoolteachers, professional psychologists, and spiritual leaders working with these families.
Marco Gemignani, Yolanda Hernández‐Albújar, Nerea Larrinaga‐Bidegain   +2 more
wiley   +1 more source

Experience of conductive hearing loss and impacts of hearing aid use throughout life

Frontiers in Rehabilitation Sciences
IntroductionHearing loss and Deafness/deafness affects as much as 5% of the world's population and has a considerable health and economic burden. We explored the relationship with hearing and hearing aids as well as other assistive technology for health ...
Thomas Hampton, Thomas Hampton, Thomas Hampton, Thomas Hampton, Manuel Loureiro, Kevin Mortimer, Kevin Mortimer, Kevin Mortimer, Deborah Nyirenda, Deborah Nyirenda   +9 more
doaj   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Capillary hemangioma of tympanic cleft [PDF]

, 2009
We present an extensive capillary hemangioma of right ear in an 11-year-old child involving external auditory canal, middle ear and mastoid. Patient was presented with chronic purulent discharge and aural mass in right ear. The Computarize tomography (CT)
Bhandary, Sangita, Karki, Smirti, Singh, Rakesh Kumar, Tiwary, Awadhesh   +3 more
core   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Dominant symphalangism and conductive hearing loss.

Revue de laryngologie - otologie - rhinologie, 1995
Dominant symphalangism in three generations is presented in this paper. Conductive hearing loss of a 14 year old male patient with proximal symphalangism was due to fixation of the stapes.
A, Makowski, B, Latkowski, T, Biegański
openaire   +2 more sources