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Condition: Deafness

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Total 120 results found since Jan 2013.

Pure word deafness in a patient with bilateral ischemic stroke in the superior temporal gyrus (STG).
Conclusions: Our case suggested that bilateral, symmetric lesions in the region of STG could cause pure world deafness. The diversity and severity of symptoms confirm the necessity of pure world deafness classification for subtypes. PMID: 32364009 [PubMed - as supplied by publisher]
Source: Neurocase - May 1, 2020 Category: Neurology Authors: Slotwinski K, Ejma M, Szczepanska A, Budrewicz S, Koszewicz M Tags: Neurocase Source Type: research

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation
ConclusionThis study improves the knowledge on natural history of late-onset variants of FD, carrying major impact on clinical decisions and guidelines.
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

Mapping the Fine-Scale Organization and Plasticity of the Brain Vasculature
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 - February 14, 2020 Category: Cytology Source Type: research

Medical News Today: Testing hearing by looking at the eyes
Pupil dilation may provide a new and accurate way of testing hearing. The new test may be helpful for babies or people who have had a stroke.
Source: Health News from Medical News Today - January 13, 2020 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

A Simple Assay to Evaluate the Function of Human Connexin Hemichannels Expressed in Escherichia coli that Can Be Used for Drug Discovery and Mutant Analysis.
Authors: Fiori MC, Cuello LG, Altenberg GA Abstract Abnormally increased activity of connexin hemichannels contributes to cell damage in many disorders, including deafness, stroke, and cardiac infarct, and therefore hemichannels constitute a potentially important therapeutic target. Unfortunately, the available hemichannel inhibitors are not specific and most are toxic. The absence of a simple and cost-effective screening assay has made the discovery of hemichannel inhibitors difficult. Here, we present an optimized assay where human connexins are expressed in genetically modified Escherichia coli cells deficient i...
Source: Current Protocols in Pharmacology - November 24, 2019 Category: Drugs & Pharmacology Tags: Curr Protoc Pharmacol Source Type: research

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report
ConclusionsGrowth differentiation factor-15 can be used not only for the diagnosis of mitochondrial disease, but as an indicator of its acute exacerbation. A stroke-like episode of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes reflects a drastic derangement of multiple amino acids. The involvement of aspartic acid in the episodes should be explored in future studies.
Source: Journal of Medical Case Reports - October 20, 2019 Category: General Medicine Source Type: research

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
ConclusionA founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region. In this late-onset phenotype, although cardiac manifestations carry the highest prognostic impact, extracardiac involvement is common.
Source: Molecular Genetics and Metabolism - July 25, 2019 Category: Genetics & Stem Cells Source Type: research

Relationships Among Self-Reported Hearing Problems, Psychological Distress, and Cardiovascular Disease in U.S. Adults, National Health Interview Survey 1997-2017.
Conclusions The relationship between self-reported hearing problems and CVD is mediated by psychological distress. Further research is needed to identify causal pathways and psychophysiological mechanisms involved in this relationship and to identify effective methods for addressing cardiovascular health-related psychosocial factors in the treatment of hearing impairment. PMID: 31339788 [PubMed - as supplied by publisher]
Source: Journal of speech, language, and hearing research : JSLHR - July 23, 2019 Category: Speech-Language Pathology Authors: Xu D, Francis AL Tags: J Speech Lang Hear Res Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Age Is a Greater Influence on Small Saccades Than Target Size in Normal Subjects on the Horizontal Video Head Impulse Test
Conclusion: While this study suggests that target size may have a statistically significant impact on the vHIT saccade profile of normal subjects, age has a greater influence on the incidence and size of small vHIT saccades. Introduction The video head impulse test (vHIT) is a quantitative adaptation of the clinical head impulse test (1), and enables functional assessment of the high-frequency angular vestibulo-ocular reflex (VOR) in all three planes of head rotation (2, 3). Lightweight goggles worn by the subject detect head movement using an accelerometer and gyroscope, and a high frame rate video camera tracks eye...
Source: Frontiers in Neurology - April 15, 2019 Category: Neurology Source Type: research

The Promoter Regions of Intellectual Disability-Associated Genes Are Uniquely Enriched in LTR Sequences of the MER41 Primate-Specific Endogenous Retrovirus: An Evolutionary Connection Between Immunity and Cognition
Discussion We have found that, in the human genome, the promoter regions of ID-associated genes are uniquely enriched in MER41 LTRs. More specifically, nine ID-associated genes that are putatively important in cognitive evolution exhibit MER41 LTRs in their promoter regions. As more than 100 families of HERV are integrated into our genome, it was important to determine whether our findings are specific to MER41 and to ID-associated genes, and if so to what extent. Among the 133 families of HERV explored here, MER41 is the only family whose LTRs were found with statistically high frequency in the promoter regions of ID-ass...
Source: Frontiers in Genetics - April 11, 2019 Category: Genetics & Stem Cells Source Type: research

Role of TREK-1 in Health and Disease, Focus on the Central Nervous System
Conclusion and Perspectives Since their cloning 20 years ago, the physiological importance of TREK-1 channels has continued to grow (Figure 3). Today, TREK-1 channels have been shown to be important and their presence is essential in a number of physiopathological processes. Their involvement in these different processes demonstrate the necessity to design pharmacological modulators, activators or inhibitors, of these channels to correct any TREK-1-related dysfunctions. Despites a number of studies and many molecule screenings, only few putative new drugs were identified. The activators belonging to the ML and BL series ...
Source: Frontiers in Pharmacology - April 10, 2019 Category: Drugs & Pharmacology Source Type: research

GSE129091 Quantitative variation in m.3243A > G mutation produce discrete changes in energy metabolism
Contributors : Ryan P McMillan ; Sidney Stewart ; James A Budnick ; Clayton C Caswell ; Matthew W Hulver ; Konark Mukherjee ; Sarika SrivastavaSeries Type : Expression profiling by arrayOrganism : Homo sapiensMitochondrial DNA (mtDNA) 3243A>G tRNALeu(UUR) heteroplasmic mutation (m.3243A>G) exhibits clinically heterogeneous phenotypes. While the high mtDNA heteroplasmy exceeding a critical threshold causes mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome, the low mtDNA heteroplasmy causes maternally inherited diabetes with or without deafness (MIDD) syndrome. How quantitative diffe...
Source: GEO: Gene Expression Omnibus - April 9, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research