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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

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

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

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

MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level.
MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level. Neth J Med. 2012 Dec;70(10):460-2 Authors: de Wit HM, Westeneng HJ, van Engelen BG, Mudde AH Abstract Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) are different syndromes, but are caused by the same m.3243A>G mutation in mitochondrial DNA. Why some patients develop MIDD while others MELAS is unknown, but may be relate...
Source: The Netherlands Journal of Medicine - December 1, 2012 Category: Journals (General) Authors: de Wit HM, Westeneng HJ, van Engelen BG, Mudde AH Tags: Neth J Med Source Type: research