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Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma
ConclusionsThe muscle pathological examination of late-onset PA provides valuable information that is helpful for distinguishing delayed-onset PA from metabolic diseases. In the absence of a history of trauma, subdural hematoma may be a very rare complication of late-onset PA and can be regarded as a poor prognostic sign; therefore, it is suggested to perform head computed tomography as part of the routine neurological evaluation of PA patients.
Source: Frontiers in Neurology - December 22, 2022 Category: Neurology Source Type: research

independent origin for M.3243A & gt;G mitochondrial mutation in three venezuelan cases of melas syndrome
Clin Biochem. 2022 Sep 18:S0009-9120(22)00221-1. doi: 10.1016/j.clinbiochem.2022.09.007. Online ahead of print.ABSTRACTMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80% of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome. All cases showed lactic acidosis, cortical cerebral atrophy on magnetic resonance imaging and ...
Source: Clinical Biochemistry - September 21, 2022 Category: Biochemistry Authors: Ingrid Florez Irune Pirrone Liliana Casique Carmen Luisa Dom ínguez Antonieta Mahfoud Tania Rodr íguez Daniel Rodr íguez Marisel De Lucca Jos é Luis Ramírez Source Type: research

P035  Inflammatory myopathy and metabolic disorders causing myopathies
Conclusion This lady was initially managed as inflammatory myopathy but did not respond to high dose methylprednisolone. There were atypical features including normal inflammatory markers, MRI thighs showing predominantly fatty infiltration and muscle atrophy and the muscle biopsy with abundant lipid accumu lation suggestive of a metabolic disorder. We are awaiting full results of genetic testing. This case is a reminder of the importance of tissue diagnosis and reassessing the initial diagnosis if the clinical picture changes or patients do not respond as expected to treatment.Disclosure M. Malik: None.A. Mason: None....
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
Conclusions: Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. Furthermore, the lactate detection in CSF and the brain MRI scanning are suggested as the diagnosis methods for LS patients with mtDNA mutations. PMID: 30425197 [PubMed - in process]
Source: Chinese Medical Journal - November 15, 2018 Category: General Medicine Authors: Yu XL, Yan CZ, Ji KQ, Lin PF, Xu XB, Dai TJ, Li W, Zhao YY Tags: Chin Med J (Engl) Source Type: research