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Condition: Deafness

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Total 120 results found since Jan 2013.

Progression of Peripheral Vestibular Dysfunctions in Patients With a Mitochondrial A3243G Mutation
Conclusions: The A3243G mutation causes progression of peripheral vestibular dysfunction as well as that of hearing loss.
Source: Otology and Neurotology - February 13, 2019 Category: ENT & OMF Tags: VESTIBULAR DISORDERS Source Type: research

Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.
Authors: Tsang SH, Aycinena ARP, Sharma T Abstract Patients with maternally inherited diabetes and deafness (MIDD) have insulin-dependent diabetes with relatively low BMI; usually the onset of the diabetes is during the third or fourth decade of life and it is associated with progressive neurosensory deafness. The fundus shows circumferentially oriented but discontinuous patches of RPE and choriocapillaris (CC) atrophy around the macula, within the arcades (Figs. 31.1 and 31.2). Sometimes even hyperpigmentation can be seen, also around the optic nerve, or pattern-like dystrophy may occur. Vision is usually good, ab...
Source: Advances in Experimental Medicine and Biology - December 25, 2018 Category: Research Tags: Adv Exp Med Biol Source Type: research

Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes.
Abstract A point mutation of mitochondrial DNA (mtDNA) at nucleotide position 3243 A to G (mt.3243A>G) is involved in many common diseases, including maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes (MELAS). However, the mutant level of mt.3243A>G varies both among individuals and in different organs, tissues, and even cells of single individuals. For detection of this mutation, current methods have limited universality and sensitivity and may be not adequate for a routine clinical test. Here, we develop and evaluate a rapid TaqM...
Source: Biomed Res - December 14, 2018 Category: Research Authors: Rong E, Wang H, Hao S, Fu Y, Ma Y, Wang T Tags: Biomed Res Int Source Type: research

mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases
Mitochondrial diseases represent a significant clinical challenge. Substantial efforts have been devoted to identifying therapeutic strategies for mitochondrial disorders, but effective interventions have remained elusive. Recently, we reported attenuation of disease in a mouse model of the human mitochondrial disease Leigh syndrome through pharmacological inhibition of the mechanistic target of rapamycin (mTOR). The human mitochondrial disorder MELAS/MIDD (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes/Maternally Inherited Diabetes and Deafness) shares many phenotypic characteristics with Leigh syndrome.
Source: Kidney International - November 21, 2018 Category: Urology & Nephrology Authors: Simon C. Johnson, Frank Martinez, Alessandro Bitto, Brenda Gonzalez, Cagdas Tazaerslan, Camille Cohen, Laure Delaval, Jos é Timsit, Bertrand Knebelmann, Fabiola Terzi, Tarika Mahal, Yizhou Zhu, Philip G. Morgan, Margaret M. Sedensky, Matt Kaeberlein, Chr Tags: Clinical Trial Source Type: research

The heart in m.3243A > G carriers.
CONCLUSIONS: Cardiac involvement in m.3243A>G carriers has been only rarely systematically studied, which is perhaps why the incidence of cardiac diseases in MELAS is lower than would be expected. Myocardial abnormalities are much more frequent than arrhythmias or conduction defects. All symptomatic and asymptomatic m.3243A>G carriers should be systematically investigated for cardiac disease. PMID: 30128910 [PubMed - as supplied by publisher]
Source: Herz - August 23, 2018 Category: Cardiology Tags: Herz Source Type: research

Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation
Focal segmental glomerulosclerosis (FSGS) is caused by various etiologies, with mitochondrial dysfunction being one of the causes. FSGS is known to be associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is a subclass of mitochondrial disease. However, it has rarely been reported in other mitochondrial disease subclasses. Here, we reported a 20-year-old man diagnosed with FSGS associated with chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) 3243A#x3e;G mutation. He presented with left ptosis, short stature, mild sensorineural deafness,...
Source: Nephron - November 30, 2017 Category: Urology & Nephrology Source Type: research

Molecules, Vol. 22, Pages 2063: Inhibition by Commercial Aminoglycosides of Human Connexin Hemichannels Expressed in Bacteria
Altenberg In addition to gap junctional channels that mediate cell-to-cell communication, connexins form hemichannels that are present at the plasma membrane. Since hemichannels are permeable to small hydrophilic compounds, including metabolites and signaling molecules, their abnormal opening can cause or contribute to cell damage in disorders such as cardiac infarct, stroke, deafness, skin diseases, and cataracts. Therefore, hemichannels are potential pharmacological targets. A few aminoglycosides, well-known broad-spectrum antibiotics, have been shown to inhibit hemichannels. Here, we tested several commercially avai...
Source: Molecules - November 25, 2017 Category: Chemistry Authors: Mariana Fiori Srinivasan Krishnan Abbey Kjellgren Luis Cuello Guillermo Altenberg Tags: Article Source Type: research

NIH awards almost $10 million to UCLA Center for Autism Research and Treatment
The National Institutes of Health, recognizing UCLA ’s leadership in understanding and developing interventions for autism spectrum disorder, has renewed its support of the UCLA Center for Autism Research and Treatment with a five-year, $9.7 million grant.The Autism Center of Excellence grant is directed by Susan Bookheimer, director of the Intellectual and Developmental Disabilities Research Center at UCLA. It supports research projects led by autism experts Mirella Dapretto, Dr. Shafali Jeste, Connie Kasari, Elizabeth Laugeson, Dr. Daniel Geschwind and Dr. Jim McCracken.“This renewed support will allow UCLA to contin...
Source: UCLA Newsroom: Health Sciences - October 13, 2017 Category: Universities & Medical Training Source Type: news

Little Black Boxes: Noncardiac Implantable Electronic Medical Devices and Their Anesthetic and Surgical Implications.
Abstract Implanted electronic medical devices. or stimulators such as pacemakers and nerve stimulators have grown enormously in diversity and complexity over recent decades. The function and potential interaction of these devices with the perioperative environment is of increasing concern for anesthesiologists and surgeons. Because of the innate electromagnetic environment of the hospital (operating room, gastrointestinal procedure suite, and imaging suite), implanted device malfunction, reprogramming, or destruction may occur and cause physical harm (including nerve injury, blindness, deafness, burn, stroke, para...
Source: Anesthesia and Analgesia - May 4, 2017 Category: Anesthesiology Authors: Srejic U, Larson P, Bickler PE Tags: Anesth Analg Source Type: research

MELAS Syndrome: How Stroke-like are the Stroke episodes? (P1.255)
Conclusions:Patients with MELAS syndrome may present with recurrent strokes in the arterial territory rather than SLEs. Clinicians should entertain the possibility of a mitochondrial disease in young patients with cryptogenic stroke and pursue appropriate diagnostic evaluations and treatment.Disclosure: Dr. Liaw has nothing to disclose. Dr. Lewis has nothing to disclose. Dr. Saini has nothing to disclose. Dr. Gultekin has nothing to disclose. Dr. Koch has nothing to disclose. Dr. Asdaghi has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Liaw, N., Lewis, R., Saini, V., Gultekin, S. H., Koch, S., Asdaghi, N. Tags: Genetic Stroke Syndromes, Biomarkers, and Translational/Basic Research Source Type: research

Ischemic stroke in a patient with Parry-Romberg syndrome (P4.064)
Conclusions:The only other reported patient with PRS and stroke was also found to have a PFO. It is possible that the elevated ANA seen in this patient correlates with propensity towards small venous clots not seen on ultrasound. This may lead to paradoxical emboli and ischemic strokes. It is important to note this potential association between PRS and ischemic stroke in young patients without other known risk factors. It would be worthwhile to treat this subset of patients with medications for secondary stroke prevention.Disclosure: Dr. Ebiana has nothing to disclose. Dr. Singh has nothing to disclose. Dr. Khosa has nothi...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Ebiana, V., Singh, S., Khosa, S., Moheb, N., Trikamji, B., Rao, N., Mishra, S. Tags: General Neurology: Vascular Neurology Source Type: research

An Unusual Cause of Hyperglycemia
​BY CHRISTINE SHEELER; SEEMA ELAHI, MDA 46-year-old man presented to the ED with multiple complaints, including fatigue and dizziness for one day. His primary care physician had diagnosed him with diabetes the previous day, and had prescribed him an oral hypoglycemic as well as insulin. Neither, however, was started at the time of presentation. The patient had a medical history significant for HIV, with his most recent CD4 count above 500, and bilateral sensorineural hearing loss, which had progressively worsened since its initial onset in his 20s. His physical exam was unremarkable except for decreased hearing bilateral...
Source: The Case Files - April 13, 2017 Category: Emergency Medicine Tags: Blog Posts Source Type: research

A Cell-Based Assay to Assess Hemichannel Function.
Authors: Krishnan S, Fiori MC, Cuello LG, Altenberg GA Abstract Activation of connexin hemichannels is involved in the pathophysiology of disorders that include deafness, stroke, and cardiac infarct. This aspect makes hemichannels an attractive therapeutic target. Unfortunately, most available inhibitors are not selective or isoform specific, which hampers their translational application. The absence of a battery of useful inhibitors is due in part to the absence of simple screening assays for the discovery of hemichannel-active drugs. Here, we present an assay that we have recently developed to assess hemichannel ...
Source: The Yale Journal of Biology and Medicine - April 1, 2017 Category: Universities & Medical Training Tags: Yale J Biol Med Source Type: research

Acute Hearing Loss Caused by Decreasing Anterior Inferior Cerebellar Arterial Perfusion in a Patient with Vertebral Artery Stenosis
We report a case of bilateral hearing loss caused by decreased vascular flow in the anterior inferior cerebellar artery (AICA) territory. A 74-year-old man who experienced right hearing loss 5 months ago presented with bilateral deafness and right cerebellar ataxia; however, no ischemic lesion was detected in the bilateral AICA area. After stroke treatment, hearing loss was improved. One month later, we obtained blood flow improvement in the left AICA territory on single –photon-emission computed tomography and vertebral artery stenosis on magnetic resonance angiography.
Source: Journal of Stroke and Cerebrovascular Diseases - March 31, 2017 Category: Neurology Authors: Rintaro Fukuda, Nobukazu Miyamoto, Arisa Hayashida, Yuji Ueno, Kazuo Yamashiro, Ryota Tanaka, Nobutaka Hattori Tags: Case Studies Source Type: research