Results 41 to 50 of about 44,405 (346)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Vestibular and balance dysfunction in attention deficit hyperactivity disorder and cognitive disengagement syndrome risk groups

Middle East Current Psychiatry
Background In the past, cognitive disengagement syndrome (CDS) and attention deficit hyperactivity disorder (ADHD) were considered similar concepts. However, many differences have recently been identified between the two disorders, and they have been ...
Zuhal Koc Apaydın, Emre Soylemez, Nefise Demir   +2 more
doaj   +1 more source

Inteligibilidade de fala com e sem ruído em indivíduos expostos à música eletrônica Speech intelligibility with and without noise in individuals exposed to electronic music

Brazilian Journal of Otorhinolaryngology, 2010
A audiometria é o principal meio pelo qual se avalia a audição, pois é um teste universal e padronizado. Os testes de fala são de difícil padronização devido às variáveis envolvidas, sendo de grande importância a aplicação destes na presença de ruído ...
Jéssica Kuchar, Cássia Menin Cabrini Junqueira   +1 more
doaj   +1 more source

A 4‐year follow‐up study of hearing acuity in a large population‐based cohort of children and adolescents

Laryngoscope Investigative Otolaryngology, 2021
Objectives To describe the prevalence of hearing loss among 13 year old adolescents, and to examine the change in prevalence between ages 9 and 13 years.
Danique E. Paping, Jantien L. Vroegop, Carlijn M. P. leClercq, Robert J. Baatenburg de Jong, Marc P. van derSchroeff   +4 more
doaj   +1 more source

Self-Reported Hearing Loss and Pure Tone Audiometry for Screening in Primary Health Care Clinics

Journal of Primary Care & Community Health, 2018
Objective: To evaluate the performance of self-reported hearing loss alone and in combination with pure tone audiometry screening in primary health care clinics in South Africa.
Christine Louw, D. Swanepoel, R. Eikelboom   +2 more
semanticscholar   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Estudo da prevalência de hipoacusia em indivíduos com diabetes mellitus tipo 1 Hearing loss prevalence in patients with diabetes mellitus type 1

Brazilian Journal of Otorhinolaryngology, 2012
Diabetes mellitus (DM) é uma doença crônica causada pela não produção e uso inadequado de insulina. Enfermidade crônico-degenerativa. Complicações crônicas do DM, no sistema auditivo, podem causar atrofia do gânglio espiral, degeneração da bainha de ...
Diego Augusto Malucelli, Fernanda Justus Malucelli, Vinicius Ribas Fonseca, Bianca Zeigeboim, Angela Ribas, Fabiano de Trotta, Thanara Pruner da Silva   +6 more
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

RETRACTION: Top 100 cited articles on anosmia and COVID‐19: a bibliometric analysis

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView., 2023
Retraction: Tan, DJY, Ko, TK. Top 100 cited articles on anosmia and COVID‐19: a bibliometric analysis. World J Otorhinolaryngol Head Neck Surg. 2023; 1–8. doi:10.1002/wjo2.125. The above article, published online on 28 July 2023 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the authors, the journal's Editor ...
Denise Jia Yun Tan, Tsz Ki Ko
wiley   +1 more source

The Effects of COVID‐19 on Tinnitus Severity and Quality of Life in Individuals With Subjective Tinnitus

Brain and Behavior
Purpose This study aimed to investigate the effects of the SARS‐CoV‐2 virus (COVID‐19) on tinnitus severity and quality of life in infected and non‐infected individuals who were re‐admitted to our clinic after the COVID‐19 outbreak.
Zehra Aydogan PHD, Mehmet Can PHD, Emre Soylemez PHD, Kursad Karakoc PHD, Zahide Ciler Buyukatalay MD, Suna Tokgoz Yilmaz PHD   +5 more
doaj   +1 more source