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Condition: Deafness
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Total 39 results found since Jan 2013.

Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A   & gt;  G cases
Mol Genet Metab. 2023 Aug 28;140(3):107691. doi: 10.1016/j.ymgme.2023.107691. Online ahead of print.ABSTRACTMitochondrial DNA m.3243A > G mutation causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and its associated multi-organ disorders, including diabetes. To clarify associations between m.3243A > G organ heteroplasmy and clinical phenotypes, including the age at death, we combined genetic and pathological examinations from seven unreported and 36 literature cases of autopsied subjects. Clinical characteristics of subjects were as follows: male, 13; female, 28; unknown, 2; the a...
Source: Molecular Medicine - September 3, 2023 Category: Molecular Biology Authors: Kunimasa Yagi Satoko Okazaki Azusa Ohbatake Masako Nakaya Jianhui Liu Eiko Arite Yukiko Miyamoto Naoko Ito Kaoru Nakano Naoto Yamaaki Hisae Honoki Shiho Fujisaka Daisuke Chujo Shin-Ichiro Tsunoda Kunio Yanagimoto Tsuyoshi Nozue Masayo Yamada Kotaro Ooe Ts Source Type: research

From Rags to Riches: Power and progress in Abu Dhabi
The Ethiad TowersBy Jan LundiusSTOCKHOLM, Apr 20 2022 (IPS) I recently visited Abu Dhabi and my impressions became intermingled with worries about the war in Ukraine. I also happened to read Livy’s The Early History of Rome, written around the beginning of CE, coming across these lines: The study of history is the best medicine for a sick mind; for in history you have a record of the infinite variety of human experience plainly set out for all to see; and in that record you can find for yourself and your country both examples and warnings; fine things to take as models, base things, rotten through and through, to avoid....
Source: IPS Inter Press Service - Health - April 20, 2022 Category: International Medicine & Public Health Authors: Jan Lundius Tags: Armed Conflicts Crime & Justice Development & Aid Economy & Trade Education Energy Headlines Health Labour Middle East & North Africa TerraViva United Nations IPS UN Bureau Source Type: news

Proteomic Analysis of m.8296A & #x3e;G Variation in the Mitochondrial < b > < i > tRNA < /i > < /b > < sup > Lys < /sup > Gene
In this study, we aimed to analyze the mitochondrial proteome in a patient with m.8296A#x3e;G variation to elucidate the effects of this mutation at the protein level. Whole-exome sequencing and mitochondrial genome analysis were performed in a patient with sensorineural hearing impairment, cognitive impairment, leukodystrophy, migraine-like headaches, and gastrointestinal dysmotility. Mitochondrial genome analysis identified a homoplasmic m.8296A#x3e;G variation in the mitochondrialtRNALys gene in the proband and unaffected mother. Global mitochondrial proteome analysis was carried out in the muscle mitochondria of the in...
Source: Molecular Syndromology - February 9, 2022 Category: Molecular Biology Source Type: research

What are Some Risk Factors for Hypoxic-Ischemic Encephalopathy Outcomes?
Discussion “Neonatal encephalopathy, manifesting as altered responsiveness, seizures, apnea and abnormal muscle tone and reflexes, resulting from hypoxic-ischemic injury is termed hypoxic-ischemic encephalopathy (HIE).” Neonatal encephalopathy can be associated with other problems including stroke, hemorrhage, infection, pre-term brain injury and hypoglycemia as some examples. Sometimes more than one of these entities occurs simultaneously such as hypoglycemia and HIE. HIE can result in long-term neurological problems including motor, behavioral, and cognitive problems that can become apparent even years later....
Source: PediatricEducation.org - December 13, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Cochlear Implantation in Sporadic Vestibular Schwannoma and Other Retrocochlear Pathology: A Case Series
Conclusions: Appropriately selected patients with retrocochlear pathology may benefit from CI so long as the patient has a cochlear fluid signal and an intact cochlear nerve. Patients with sporadic VS patients and normal contralateral hearing exhibited guarded outcomes with CI, whereas most patients with non-VS retrocochlear pathologies demonstrated open-set speech understanding scores comparable to or slightly worse than conventional CI candidates. Since variable performance benefit is observed with CI in patients with retrocochlear pathology, counseling is imperative to align patient expectations with realistic outcomes.
Source: Otology and Neurotology - March 19, 2021 Category: ENT & OMF Tags: COCHLEAR IMPLANTS Source Type: research

Basilar artery occlusion presenting as sudden bilateral deafness: a case report
ConclusionsWhen hearing loss is due to vertebrobasilar occlusive disease, the prognosis is very poor. We suggest that vertebrobasilar stroke be suspected in patients with bilateral sensorineural hearing loss who present with risk factors for stroke such as atrial fibrillation and other neurologic signs.
Source: Journal of Medical Case Reports - March 2, 2021 Category: General Medicine Source Type: research

U0126 pretreatment inhibits cisplatin-induced apoptosis and autophagy in HEI-OC1 cells and cochlear hair cells.
Abstract Deafness is the most common sensory disorder in the world. Ototoxic drugs are common inducing factors of sensorineural hearing loss, and cochlear hair cell (HC) damage is the main concern of the present studies. Cisplatin is a widely used, highly effective antitumor drug, but some patients have experienced irreversible hearing loss as a result of its application. This hearing loss is closely related to HC apoptosis and autophagy. U0126 is a specific inhibitor of the extracellular signal-regulated protein kinases 1 and 2 (ERK1/2) signaling pathway and has neuroprotective effects. For example, the neuroprot...
Source: Toxicology and Applied Pharmacology - February 9, 2021 Category: Toxicology Authors: Wang D, Shi S, Ren T, Zhang Y, Guo P, Wang J, Wang W Tags: Toxicol Appl Pharmacol Source Type: research

Transthyretin cardiac amyloidosis.
Authors: Eicher JC, Audia S, Damy T Abstract Transthyretin (TTR) cardiac amyloidosis results from the dissociation of the tetrameric, liver-synthetized transport protein, either because of a mutation (hereditary CA), or spontaneously due to ageing (wild type CA). Monomers self-associate into amyloid fibrils within the myocardium, causing heart failure, arrhythmias and conduction defects. This overlooked disease must be recognized in case of unexplained increased thickness of the myocardium, particularly in subjects of African descent, in patients with heart failure and preserved ejection fraction, and in those with...
Source: Revue de Medecine Interne - August 23, 2020 Category: Internal Medicine Tags: Rev Med Interne Source Type: research

Functional Near-Infrared Spectroscopy in the Study of Speech and Language Impairment Across the Life Span: A Systematic Review.
Conclusions Though it is not without inherent challenges, fNIRS may have advantages over other neuroimaging techniques in the areas of speech and language impairment. fNIRS has clinical applications that may lead to improved early and differential diagnosis, increase our understanding of response to treatment, improve neuroprosthetic functioning, and advance neurofeedback. PMID: 32640168 [PubMed - as supplied by publisher]
Source: American Journal of Speech-Language Pathology - July 7, 2020 Category: Speech-Language Pathology Authors: Butler LK, Kiran S, Tager-Flusberg H Tags: Am J Speech Lang Pathol 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

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