Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

ConclusionsThis study shows that individuals with AS have high HRU/STU, and apart from a few differences, HRU/STU was similar across molecular etiology. These results reflect usage in younger individuals and studies that describe HRU/STU in older individuals are needed.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Authors: Del Cerro I, Merino P, Gómez de Liaño P, Alan G Abstract Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes. The most typical clinical characteristics are mental retardation, postnatal growth retardation, skeletal anomalies, and characteristic facial features. As the eyes are affected in most of the cases, ophthalmological examination is recommended for the early detection of ocular anomalies, in order to prevent visual impairment. The most frequent ocular signs are stra...
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
We report 2 cases in which a combination of multiple palsies resulted in paralytic esotropia with the medial rectus being the sole functioning rectus muscle. Both cases were treated with temporal transposition of split medial rectus.
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
Authors: Yücel Ekici N, Külahci Ö Abstract BACKGROUND: Previous reports suggested that allergic/eosinophilic inflammation affects the adenoid and tonsillar tissue. The aim of this study is to evaluate and compare the tissue and serum eosinophilia in children undergoing adeno-tonsillectomy with allergic rhinitis. MATERIALS AND METHODS: The clinical registers of 125 children who underwent adenoidectomy/tonsillectomy due to adenoid/tonsil hypertrophy were examined and reviewed retrospectively. 57 children with skin prick test positivity and with symptoms of allergic rhinitis were included in the stu...
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Publication date: October 2019Source: Journal of American Association for Pediatric Ophthalmology and Strabismus, Volume 23, Issue 5Author(s):
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
We present a video of left lateral rectus disinsertion and reattachment to the lateral orbital rim combined with left medial rectus plication in a 9-year-old girl with presumed congenital fibrosis of extraocular muscles.
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
Discussion Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.” There are four distinct subtypes: Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected. Semilobar – the cerebral hemispheres are fused anteriorly bu...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Laryngo-Rhino-Otol 2019; 98: 760-761 DOI: 10.1055/a-0898-8562Tzelnick S et al. Long-Term Outcomes of Tonsillectomy for Recurrent Tonsillitis in Adults. Laryngoscope 2019; 9999: 1–4. doi:10.1002/lary.27928 Ein Cochrane Review von 2014 beantwortete die Frage nach der Effektivität von Tonsillektomien bei Erwachsenen nicht abschließend, sprach aber für einen positiven Einfluss auf die Lebensqualität. Die retrospektive Studie aus Israel belegt nun eine deutliche Reduktion der Tonsillitis-Episoden und der Gesundheitskosten. [...] © Georg Thieme Verlag KG Stuttgart · New YorkArticl...
Source: Laryngo- Rhino- Otologie - Category: ENT & OMF Authors: Tags: Referiert & Diskutiert Source Type: research
This study aims to explore the effects of low-temperature plasma treatment on pulmonary function in children with OSAHS.MethodsA total of 110 children with OSAHS were included in this prospective study. Low-temperature plasma radiofrequency treatment and routine surgical treatment were performed in group A and group B, respectively. Maximal voluntary ventilation (MVV), forced vital capacity (FVC), and total lung capacity (TLC) were measured. OSA-18 survey was used to evaluate the quality of life 1 year after operation.ResultsGroup A had significantly higher effective treatment rate (P
Source: Irish Journal of Medical Science - Category: General Medicine Source Type: research
A 74-year-old woman with a prior history of tobacco use presented with a chronic cough productive of clear sputum. She carried a diagnosis of asthma for the past 20 years but had minimal improvement in symptoms despite treatment with inhaled corticosteroids and long acting beta agonists. Her medical history was remarkable for gastroesophageal reflux disease that resolved after an esophageal fundoplication.
Source: The American Journal of Medicine - Category: General Medicine Authors: Source Type: research
ConclusionOur study indicates RA-ILD among Blacks is predominantly a disease of elderly females with higher rates of GERD and CVD risk factors. Further studies are needed to identify the pathogenetic differences accounting for the gender distribution of RA-ILD among Black and White populations.Key Points•First study to assess ILD among predominantly Black RA patients.•The prevalence of RA-associated ILD was 6.36%, affecting mostly women in their sixth decade with seropositive disease.•COPD was the most common airway disease among non-RA-ILD Black population.•GERD was found in approximately one-third of ...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
More News: Acid Reflux | Adenoidectomy | Adenoids | Angelman Syndrome | Gastroenterology | Gastroesophageal Reflux Disease | Genetics | GERD | Loop Electrosurgical Excision Procedure (LEEP) | Myringotomy and Grommet Insertion | Respiratory Medicine | Statistics | Strabismus (squint) | Study | Tonsillectomy and Adenoidectomy | Tonsillitis