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Condition: Deafness
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Total 120 results found since Jan 2013.
The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients
CONCLUSIONS: A single mtDNA point mutation at locus 3243 can result in a variety of clinical presentations (MELAS, MIDD, or CPEO). Ocular involvement may manifest as a perimacular/peripapillary RPE atrophy/deposit, which can variably impact central visual function (from asymptomatic to legal blindness). The discovery of such a maculopathy should prompt the ophthalmologist to complete the personal and family history, namely, asking for the presence of diabetes mellitus and/or deafness.PMID:33930928 | DOI:10.1055/a-1386-5826
Source: Klinische Monatsblatter fur Augenheilkunde - April 30, 2021 Category: Opthalmology Authors: Eirini Kaisari Fran çois-Xavier Borruat Source Type: research
Concomitant Mitochondrial Diabetes and Myopathy Mistook for Complications of Immunosuppressants After Kidney Transplant
We report the case of a 48-year-old woman with diabetes mellitus, sensorineural hearing loss, and severe myopathy without neuropathy after deceased donor kidney transplant. ShehadamitochondrialDNApointmutation at position 3243 (A>G), and mitochondrial diseases such as maternally inherited diabetes deafness or mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodeswere suspected.Diabetes andother symptoms following kidney transplant can often be overlooked as complications of immunosuppressants taken after kidney transplant. However, in patients without a known cause of their symptoms, appropriate exam...
Source: Experimental and Clinical Transplantation : official journal of the Middle East Society for Organ Transplantation - July 30, 2021 Category: Transplant Surgery Authors: Yong Hoon Shin Ae Jin Kim Han Ro Jae Hyun Chang Ji Yong Jung Woo Kyung Chung Hyun Hee Lee 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
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
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
