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Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas fatty degeneration was excluded. Within 7  days of therapy with spironolactone, potassium and physical therapy, muscle strength almost completely normalized, a normal pennate pattern appeared and the edema was markedly reduced. She learned to walk without aid and to do sports and has continued to do so for 11 years until now. Over the yea rs, we tested serum pot...
Source: Journal of Neurology - March 31, 2019 Category: Neurology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

Chronic seronegative spondyloarthropathy following acute Mycoplasma pneumoniae infection in a human leukocyte antigen B27-positive patient: a case report
ConclusionsIn our case, an acuteM. pneumoniae infection eventually progressed to chronic spondyloarthropathy. In our patient,M. pneumoniae infection may represent a random event, or it might be a necessary factor for the development of reactive arthritis, asymmetric proximal myopathy, and sacroiliitis, always in combination with the appropriate genetic background. Extrapulmonary manifestations ofM. pneumoniae may occur even in the complete absence of respiratory symptoms, and the diagnosis of unusual complications, such as reactive arthritis, requires high clinical suspicion and extensive investigation.
Source: Journal of Medical Case Reports - September 16, 2020 Category: General Medicine Source Type: research

Not just eosinophilic fasciitis
J Med Life. 2021 Jan-Mar;14(1):121-124. doi: 10.25122/jml-2021-0015.ABSTRACTThis case report describes a rare case of progressive muscle weakness in a patient treated for eosinophilic fasciitis (EF) for many years before being diagnosed with a second autoimmune disease: dermatomyositis. Our case is a report of a 65-year-old male diagnosed with eosinophilic fasciitis 7 years before being evaluated in our service at Mayo Clinic in Jacksonville, Florida, due to progressive muscle weakness despite the chronic treatment with methotrexate. Contrast-enhanced magnetic resonance imaging of the lower extremity showed enhancement thr...
Source: Journal of Medicine and Life - March 26, 2021 Category: General Medicine Authors: Razvan Chirila Elena Raluca Cristea Monica Roxana Purcarea Laura Carina Tribus Source Type: research