Filtered By:
Condition: Deafness
This page shows you your search results in order of date. This is page number 7.
Order by Relevance | Date
Total 120 results found since Jan 2013.
Kidney involvement in MELAS syndrome: Description of 2 cases.
CONCLUSION: The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNA(Leu) mutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement.
PMID: 28283275 [PubMed - as supplied by publisher]
Source: Medicina Clinica - March 12, 2017 Category: Journals (General) Tags: Med Clin (Barc) Source Type: research
Teaching NeuroImages: Superficial siderosis due to a dural cervical arteriovenous fistula
A 58-year-old man presented to our hospital with cerebellar ataxia, pyramidal signs, dysarthria, bilateral deafness, and cognitive impairment. These symptoms were consistent with superficial siderosis (SS) of the CNS, confirmed by MRI (figure A).1 Cerebral angiography showed a dural arteriovenous fistula perispinal and pontic with venous drainage in the left foramen C1-C2, fed by meningeal branches of the vertebral artery (figure, B). The fistulous point was clipped. SS of CNS is a rare disease resulting from hemosiderin deposition on the surface of the CNS and cranial nerves.2 At diagnosis, the etiology may...
Source: Neurology - February 19, 2017 Category: Neurology Authors: Madkouri, R., Grelat, M. Tags: All Cerebrovascular disease/Stroke, All Spinal Cord, Arteriovenous malformation, Subarachnoid hemorrhage RESIDENT AND FELLOW SECTION Source Type: research
Three families with ‘de novo’ m.3243A & gt;G mutation
In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A>G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A>G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A>G mutations exi...
Source: BBA Clinical - July 19, 2016 Category: Biochemistry Source Type: research
Phenotypic Destiny in Mitochondrial Disease?
Mitochondrial diseases are a group of heterogeneous disorders caused by inherited mutations in the mitochondrial genome (mtDNA) and nuclear genome. Typically, mutations in the mtDNA are maternally inherited and cause respiratory chain defects and account for a substantial fraction of childhood and adult neurometabolic disease, with an estimated prevalence of 1:5000 (0.02%). The most common mtDNA mutation is the mitochondrial 3243A>G mutation (m.3243A>G) in the MTTL1 gene (OMIM 590050), which encodes the transfer RNA tRNALeu(UUR). This mutation is associated with multiple clinical and psychiatric manifestations, including d...
Source: JAMA Neurology - June 20, 2016 Category: Neurology Source Type: research
Visual, Ocular Motor, and Cochleo-Vestibular Loss in Patients With Heteroplasmic, Maternally-Inherited Diabetes Mellitus and Deafness (MIDD), 3243 Transfer RNA Mutation
Conclusions: MIDD patients are primarily recognized by their advanced hearing loss or deafness, early onset diabetes mellitus, and lactic acidosis. Decreased vision in these patients relates primarily to peri-macular retinal atrophy. In addition, loss of vestibular function causes poor dynamic visual acuity. Both patients, in their late fifties, had evidence of progressive central and peripheral nervous system dysfunction.
Source: Journal of Neuro-Ophthalmology - June 1, 2016 Category: Opthalmology Tags: Original Contribution Source Type: research
Three families with ‘de novo’ m.3243A>G mutation
In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m.3243A>G mutation has arisen de novo in each of these families. The symptomatic carriers presented with a variety of symptoms frequently observed in patients harbouring the m.3243A>G mutation. A more severe phenotype is seen in the de novo families compared to recent cohort studies, which might be due to reporting bias. The observation that de novo m.3243A>G mutations exi...
Source: BBA Clinical - April 29, 2016 Category: Biochemistry Source Type: research
Acute cortical deafness in a child with MELAS syndrome
We report here an 11-year-old boy with MELAS syndrome who presented with subacute deafness after waking up from sleep. Peripheral hearing loss was rapidly excluded. A brain MRI documented bilateral stroke-like lesions predominantly affecting the superior temporal lobe, including the primary auditory cortex, confirming the central nature of deafness. Slow recovery was observed in the following weeks. This case serves to illustrate the numerous challenges caused by MELAS and the unusual occurrence of acute cortical deafness, that to our knowledge has not be described so far in a child in this setting.
Source: Journal of Inherited Metabolic Disease - April 6, 2016 Category: Internal Medicine Source Type: research
Experience Journal: Growing up with cerebral palsy
Cerebral palsy (CP) is the most common physical disability of childhood. The term CP is an umbrella term for a group of disorders that affect body movement and posture as a result of damage to a baby’s developing brain. There are many causes for CP, but all occur either during pregnancy, birth or shortly after birth. Common causes include differences in brain development, infection or stroke. Oxygen deprivation is accountable for only a small percentage of cases of CP; often, the cause is unknown. Although CP is a lifelong condition that can’t be reversed, children with the diagnosis can lead rich, fulfilling lives wit...
Source: Thrive, Children's Hospital Boston - March 18, 2016 Category: Pediatrics Authors: Erin Horan Tags: Experience Journal Cerebral Palsy Program Source Type: news
The Four Pillars of Longevity and Well-Being
by guest blogger Pam Peeke, MD, MPH, FACP, best-selling author and expert on health, fitness, and nutrition When I began my undergraduate years at the University of California-Berkeley, I chose cellular biology as my premed major. Enthused as I was with each course, I felt something was missing. Seeking an answer to my angst, I'd often take long, reflective walks around campus, through eucalyptus groves populated by cackling blue Steller's jays and verdant gardens punctuated by bright hibiscus and bougainvillea. And then it hit me: The answer was literally right under my nose. Gazing at the greenery around me, I realized h...
Source: Healthy Living - The Huffington Post - January 19, 2016 Category: Consumer Health News Source Type: news
KCNQ potassium channels in sensory system and neural circuits.
Abstract
M channels, an important regulator of neural excitability, are composed of four subunits of the Kv7 (KCNQ) K(+) channel family. M channels were named as such because their activity was suppressed by stimulation of muscarinic acetylcholine receptors. These channels are of particular interest because they are activated at the subthreshold membrane potentials. Furthermore, neural KCNQ channels are drug targets for the treatments of epilepsy and a variety of neurological disorders, including chronic and neuropathic pain, deafness, and mental illness. This review will update readers on the roles of KCNQ channe...
Source: Acta Pharmacologica Sinica - December 21, 2015 Category: Drugs & Pharmacology Authors: Wang JJ, Li Y Tags: Acta Pharmacol Sin Source Type: research
Inner-ear decompression sickness: 'hubble-bubble' without brain trouble?
Authors: Tremolizzo L, Malpieri M, Ferrarese C, Appollonio I
Abstract
Inner-ear decompression sickness (DCS) is an incompletely understood and increasingly recognized condition in compressed-air divers. Previous reports show a high association of inner-ear DCS with persistent foramen ovale (PFO), suggesting that a moderate-to-severe right-to-left shunt might represent a major predisposing factor, and more properly defining it as an event from arterial gas embolism (AGE). However, other conditions characterized by bubbles entering the arterial circulation, such as open-chamber cardiac surgery, do not produce inner-...
Source: Diving and Hyperbaric Medicine - December 11, 2015 Category: Sports Medicine Tags: Diving Hyperb Med Source Type: research
Can You Think Yourself Into A Different Person?
For years she had tried to be the perfect wife and mother but now, divorced, with two sons, having gone through another break-up and in despair about her future, she felt as if she’d failed at it all, and she was tired of it. On 6 June 2007 Debbie Hampton, of Greensboro, North Carolina, took an overdose of more than 90 pills – a combination of ten different prescription drugs, some of which she’d stolen from a neighbor’s bedside cabinet. That afternoon, she’d written a note on her computer: “I’ve screwed up this life so bad that there is no place here for me and nothing I can contr...
Source: Science - The Huffington Post - November 19, 2015 Category: Science Source Type: news
What It's Like When Your Mother Struggles With Major Anxiety
This article originally appeared on YourTango. More from YourTango: 5 Ways I Stay Happily Married To A Man With Chronic Anxiety 10 Things Your Friend Dealing With Anxiety Wants You To Know 10 Uplifting Quotes That Will Get You Through The Day A Guide To The BEST Birth Control For Every Type Of Woman Out There 7 Ways To Keep Their Passive-Aggression From Driving You Nuts Also on HuffPost: -- This feed and its contents are the property of The Huffington Post, and use is subject to our terms. It may be used for personal consumption, but may not be distributed on a website.
Source: Healthy Living - The Huffington Post - November 6, 2015 Category: Consumer Health News Source Type: news
Deaf Adolescents' Learning of Cardiovascular Health Information: Sources and Access Challenges
Deaf individuals have more cardiovascular risks than the general population that are believed to be related to their cardiovascular health knowledge disparities. This phenomenological study describes where 20 deaf sign language-using adolescents from Rochester, New York, many who possess many positive characteristics to support their health literacy, learn cardiovascular health information and their lived experiences accessing health information. The goal is to ultimately use this information to improve the delivery of cardiovascular health education to this population and other deaf adolescents at a higher risk for weak h...
Source: Journal of Deaf Studies and Deaf Education - August 31, 2015 Category: Audiology Authors: Smith, S. R., Kushalnagar, P., Hauser, P. C. Tags: Empirical Manuscript Source Type: research
