Results 111 to 120 of about 3,598,435 (367)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study

Orphanet Journal of Rare Diseases
Background Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient’s quality of life, it is difficult to address therapeutically. Due to bulbar dysfunction, maximum mouth opening
Jana Zang, Deike Weiss, Charlotte Dumitrascu, Julia Glinzer, Marie Wegner, Anna Strube, Jonas Denecke, Almut Niessen, Christina Pflug   +8 more
doaj   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Requirements for cabin crew medical examinations and assessments [PDF]

, 2015
The aim of the current study is to review current regulations relatively to medical requirements necessary to achieve suitability to fly of the cabin crew. There are three classes of flight crew medical standards and licensing. A first class medical
Di Folco, Francesco, Feltrin, Gianpietro, Sernia, Sabina, Unim, BRIGID ANDOUNIMYE   +3 more
core   +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

The Circulatory Influence on Development of Age-Related Macular Degeneration and Hearing and Equilibrium Impairments [PDF]

, 2010
This study attempts to answer the question if any level of head and neck circulation takes a part in development of Age-Related Macular Degeneration (ARMD) and hearing and equilibrium impairments.
Božo Vojniković, Damir Kovačević, Ines Strenja-Linić, Tanja Šepić, Tea Čaljkušić-Mance, Zvjezdana Alpeza-Dunato   +5 more
core   +1 more source

Episodic vestibular symptoms in children with a congenital cytomegalovirus infection [PDF]

, 2019
Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described ...
Dhondt, Cleo, Dhooge, Ingeborg, Maes, Leen, Oostra, Anna   +3 more
core   +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

Musical Ear Syndrome: What Do We Know? [PDF]

, 2017
The purpose of this study was to review the existing literature regarding Musical Ear Syndrome and other related auditory hallucinations. While the existence of auditory hallucinations is evident, their cause is unclear and widely understudied. There was
Pestel, Cara D.
core   +2 more sources

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source