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Condition: Deafness
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Total 120 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
Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G > A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer,
Ritwik Ghosh Tags: CASE REPORT Source Type: research
Case report: Bilateral sudden deafness in acute middle cerebellar peduncle infarction: central or peripheral?
CONCLUSION: Vertebrobasilar diseases due to atherosclerosis should be routinely considered in middle-aged and elderly patients with vascular risk factors and bilateral hearing loss. Bilateral SSNHL can be a prodrome of acute MCP infarction and it can be peripheral. Brain MRI, brain magnetic resonance angiogram (MRA), brain and neck computed tomography angiography (CTA), BAEP, otoacoustic emissions, and Pure Tone Audiogram help to localize and qualify the diagnosis. Bilateral SSNHL localized to the periphery usually improves better and has a good prognosis. Early detection of hearing loss and intervention can help patients ...
Source: Atherosclerosis - May 22, 2023 Category: Cardiology Authors: Ziyun Yuan Lei Xiang Ran Liu Wei Yue Source Type: research
Macrocytosis in Mitochondrial DNA Deletion Syndromes
Acta Haematol. 2023 Feb 10. doi: 10.1159/000529311. Online ahead of print.ABSTRACTLarge single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [1-2]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy. Here, we describe a 62-year-old ...
Source: Acta Haematologica - February 12, 2023 Category: Hematology Authors: Farida Almarzooqi Hilary Vallance Michelle M Mezei Anna Lehman Gabriella Horvath Bojana Rakic Leslie Zypchen Andre Mattman Source Type: research
Case Report: A novel mutation in WFS1 gene (c.1756G > A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke
In this report, we presented a case of WSF1 gene mutation-related disease with cognitive impairment as the initial symptom and recurrent cerebral infarction in the course of the disease. Brain structural imaging results suggested decreased intracranial volume, dramatically reduced in cerebral cortex and cerebellum regions. Multimodal molecular imaging results suggested Tau protein deposition in the corresponding brain regions without Aβ pathology changes. These pathological changes may indicate a role of WFS1 in neuronal vulnerability to tau pathology associated with neurodegeneration and ischemia-induced damage.
Source: Frontiers in Genetics - February 2, 2023 Category: Genetics & Stem Cells Source Type: research
Trans-cortical vessels in the mouse temporal bulla bone are a means to recruit myeloid cells in chronic otitis media and limit peripheral leukogram changes
We report trans-cortical vessels in the mouse temporal bone connect to the bulla mucosal vasculature and potentially represent a means to recruit myeloid cells directly into the inflamed bulla. The mutant mouse strains Junbo (MecomJbo/+) and Jeff (Fbxo11Jf/+) develop chronic otitis spontaneously; MecomJbo/+ mice have highly cellular neutrophil (90%) rich bulla exudates whereas Fbxo11Jf/+ mice have low cellularity serous effusions (5% neutrophils) indicating differing demand for neutrophil recruitment. However we found peripheral leukograms of MecomJbo/+ and Fbxo11Jf/+ mice are similar to their respective wild-type litterma...
Source: Frontiers in Genetics - September 28, 2022 Category: Genetics & Stem Cells Source Type: research
