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Provision of sign language courses for parents of deaf children is found to be "patchy".
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news

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Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião CunhaAbstractBackgroundThe common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our stu...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
This study aimed to examine the knowledge, attitude, and practice (KAP) of child sexual abuse (CSA) prevention among parents of children with hearing loss. The study involved 127 pairs of parents with deaf and hard of hearing children from three special ed...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Publication date: Available online 13 February 2020Source: CellAuthor(s): Christoph Kirst, Sophie Skriabine, Alba Vieites-Prado, Thomas Topilko, Paul Bertin, Gaspard Gerschenfeld, Florine Verny, Piotr Topilko, Nicolas Michalski, Marc Tessier-Lavigne, Nicolas RenierSummaryThe cerebral vasculature is a dense network of arteries, capillaries, and veins. Quantifying variations of the vascular organization across individuals, brain regions, or disease models is challenging. We used immunolabeling and tissue clearing to image the vascular network of adult mouse brains and developed a pipeline to segment terabyte-sized multichann...
Source: Cell - Category: Cytology Source Type: research
This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
We report the case of a pregnant patient diagnosed with Cockayne Syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.ResumoA síndrome de Cockayne é doença multissistêmica autossômica recessiva devido à falha no reparo do DNA. Or...
Source: Brazilian Journal of Anesthesiology - Category: Anesthesiology Source Type: research
ConclusionOur results expanded the mutation spectrum and genotype ‒phenotype correlation of nonsyndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next‐generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for nonsyndromic hearing loss.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
The Jeff mouse mutant carries a mutation in the F-box only 11 gene (Fbxo11) and heterozygous animals display conductive deafness due to the development of otitis media (OM). The Fbxo11 locus is also associated with chronic otitis media with effusion (COME) and recurrent OM in humans. The Jeff mutation affects the ability of FBXO11 to stabilize p53 that leads to perturbation in the TGF-beta/Smad2 signaling pathway important in immunity and inflammation. In the current study, we evaluated the effect of the Jeff mutation on the immune cell content using multicolor flow cytometry. In blood of Jeff heterozygotes, we observed a ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
  What’s it like being the spouse of someone with mental illness? In today’s podcast, our hosts Gabe and Jackie invite their beloved spouses, Kendall and Adam, to share what marriage with mental illness is like from their point of view. What issues have the couples run into so far and how did they resolve them? Do they have a safety plan if something goes awry? Is a strong partnership with mental illness even doable? Tune in to get a glimpse of married life with mental illness and see how both couples support each other through it all. (Transcript Available Below) SUBSCRIBE &REVIEW About The Not Cra...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Bipolar Depression Disorders General Marriage and Divorce Not Crazy Podcast Relationships Source Type: blogs
Conclusions: This recorded weakness for CI users' speech production is a challenge for future work in speech processing strategies. This is the first study measuring production of vocants during the pre-linguistic stage in CI recipients. PMID: 32037936 [PubMed - as supplied by publisher]
Source: Logopedics, Phoniatrics, Vocology. - Category: Speech-Language Pathology Authors: Tags: Logoped Phoniatr Vocol Source Type: research
Authors: Bin Nooh DM, Hegazi TM, Bukhari IA Abstract Anonychia refers to the absence of nail plates owing to an autosomal dominant or recessive inheritance. Congenital anonychia is a rare condition that may be associated with other ectodermal or mesodermal malformations like epidermolysis bullosa, (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome and Iso-Kikuchi syndrome. Here, we report 3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia. PMID: 32020155 [PubMed - in process]
Source: Saudi Medical Journal - Category: Middle East Health Tags: Saudi Med J Source Type: research
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