Results 101 to 110 of about 334,678 (236)

Titanium Prostheses for Treating Posttraumatic Ossicular Chain Disruption

Journal of International Advanced Otology, 2022
Lukasz Plichta, Aleksandra Dabkowska , Sandra Wawszczyk-Frohlich , Henryk Skarzynski , Piotr Henryk Skarzynski   +4 more
doaj   +1 more source

Central auditory processing disorder (CAPD) tests in a school-age hearing screening programme – analysis of 76,429 children

Annals of Agricultural and Environmental Medicine, 2015
[b]Introduction and objective[/b]. Hearing disorders among school-age children are a current concern. Continuing studies have been performed in Poland since 2008, and on 2 December 2011 the EU Council adopted Conclusions on the Early Detection and ...
Piotr H. Skarzynski, Andrzej W. Wlodarczyk, Krzysztof Kochanek, Adam Pilka, Wiktor W Jedrzejczak, Lukasz Olszewski, Lukasz Bruski, Artur Niedzielski, Henryk Skarzynski   +8 more
doaj  

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

Results of Hearing Screening in School-Age Children from Rural Areas of the Kujawsko– Pomorskie Region in Poland

Journal of International Advanced Otology, 2022
Elzbieta Gos , Piotr Henryk Skarzynski , Natalia Czajka, Monika Matusiak , Wojciech Kazmierczak, Joanna Janiak-Kiszka, Katarzyna Beata Cywka , Henryk Skarzynski   +7 more
doaj   +1 more source

Study on the influencing factors of bilateral high-frequency hearing loss in mining workers: The relationship between different occupational environmental pollutants and bilateral high-frequency hearing loss. [PDF]

PLoS One
Shen Z, Yin Z, Tuerdi A, Wang F, Sun D, Liu X, Zhang J, Ding D, Zhang X.   +8 more
europepmc   +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

Additional interventions for enhancing the quality-of-life of older adults using hearing aids: a systematic review and narrative synthesis. [PDF]

Qual Life Res
Kang M, Han Y, Kim H.
europepmc   +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

Impact of hearing aid usage on the quality of life of the older adult in KwaZulu-Natal. [PDF]

S Afr J Commun Disord
Mansoor Z, Mchunu X, Mthembu N, Ngwenya SB, Thwala T, Paken J.   +5 more
europepmc   +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