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Total 442 results found since Jan 2013.
The Possible Role of COVID-19 in the Triggering of Underlying Mitochondrial Dysfunction in MELAS Syndrome, A Brief Report of three cases
CONCLUSION: Although MELAS is not a prevalent condition, the recent increase in the number of these patients in our center might indicate the potential role of COVID-19 in triggering the silent pre- existing mitochondrial dysfunction in these patients.PMID:37198511
Source: Acta Neurologica Taiwanica - May 17, 2023 Category: Neurology Authors: Mahtab Ramezani Mohammad Mahdi Rabiei Zahra Cheraghi Leila Simani Source Type: research
Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling
We report a case of a 21-year-old student who developed bilateral lower limb weakness, pain, and swelling diagnosed with mitochondrial myopathy on muscle biopsy. Initial laboratory tests revealed elevated creatinine kinase, brain natriuretic peptide, troponin, myoglobin, and lactic acid and reduced serum bicarbonate. Cardiac workup revealed systolic heart failure with a reduced ejection fraction. Endomyocardial biopsy revealed punctate foci of lymphocytic myocarditis. However, cardiac magnetic resonance imaging did not reveal either myocarditis or an infiltrative cardiac disease. An extensive autoimmune and infection work-...
Source: Primary Care - May 10, 2023 Category: Primary Care Authors: Kavya Bharathidasan Abbie Evans Fabiana Monte Alegre Olmos Fernandez Arunee Tansrisook Motes Kenneth Nugent Source Type: research
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
DiscussionCollectively, our findings expand our knowledge of the genetic spectrum of RVMs in China and suggest that muscle imaging should be an integral part of assisting genetic testing and avoiding misdiagnosis in the diagnostic workup of RVM.
Source: Frontiers in Neurology - April 28, 2023 Category: Neurology Source Type: research
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
Conclusions: This study enriches the phenotypic spectrum of nemaline myopathy caused by NEB and KLHL40 variants and highlights the importance of detailed prenatal, neonatal, and infancy assessments of muscular weakness associated with complex systemic features. Variants of uncertain significance in genes associated with nemaline myopathy may be correlated with the phenotype. Early, multidisciplinary intervention can improve the outcome in patients with mild forms of nemaline myopathies. WES is essential for clarifying complex clinical phenotypes encountered in patients from consanguineous families. Targeted carrier screeni...
Source: Frontiers in Genetics - March 21, 2023 Category: Genetics & Stem Cells Source Type: research
A novel variant of COL6A3 c.6817-2(IVS27)A > G causing Bethlem myopathy: A case report
This study presents a 50-year-old female patient with symptoms of facial weakness beginning in childhood and with the slow progression of the disease with age. At the age of 30 years, the patient presented with asymmetrical proximal muscle weakness, and the neurological examination revealed bilateral facial weakness and a positive Beevor's sign. Phosphocreatine kinase was slightly elevated with electromyography showing myopathic changes and magnetic resonance imaging (MRI) of the lower limb muscles showing the muscle MRI associated with collagen VI (COL6)-related myopathy (COL6-RM). The whole-genome sequencing technology i...
Source: Frontiers in Neurology - January 27, 2023 Category: Neurology Source Type: research
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study
CONCLUSIONS: A diagnostic algorithm for detection of (peri)myocarditis in adult IIM may consist of sequential testing with high-sensitivity cardiac troponins and CMR.PMID:36683515 | DOI:10.3233/JND-221582
Source: Atherosclerosis - January 23, 2023 Category: Cardiology Authors: Johan Lim Hannah A W Walter Rianne A C M de Bruin-Bon Myrthe C Jarings R Nils Planken Wouter E M Kok Joost Raaphorst Yigal M Pinto Ahmad S Amin S Matthijs Boekholdt Anneke J van der Kooi Source Type: research
Proximal muscle weakness as the sole manifestation of Cushing ’s disease, misdiagnosed as dermatomyositis: a case report
ConclusionThis case report emphasizes the high diagnostic importance of proximal muscle weakness as the sole presenting manifestation of Cushing ’s syndrome/disease.
Source: Journal of Medical Case Reports - December 22, 2022 Category: General Medicine Source Type: research
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
