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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

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

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey.
CONCLUSIONS: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2 and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL. PMID: 27144933 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - May 3, 2016 Category: Endocrinology Authors: Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, Nur B, Tuysuz B, Nuri Ozbek M, Gungor A, Yildirim Simsir I, Altay C, Demir L, Simsek E, Atmaca M, Topaloglu H, Bilen H, Atmaca H, Atik T, Cavdar U, Altunoglu U, Aslanger A, Mihci E, Secil M, Saygil Tags: J Clin Endocrinol Metab Source Type: research

Non-Neuromuscular Manifestations of Spinal and Bulbar Muscular Atrophy (P7.054)
CONCLUSIONS: These non-neuromuscular observations provide new insight into spinal and bulbar muscular atrophy and offer additional avenues for investigating the disease mechanism. Study Supported by:Disclosure: Dr. Bakar has nothing to disclose. Dr. Grunseich has nothing to disclose. Dr. Kats has nothing to disclose. Dr. Kokkinis has nothing to disclose. Dr. Schindler has nothing to disclose. Dr. Rinaldi has nothing to disclose. Dr. Fischbeck has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Bakar, D., Grunseich, C., Kats, I., Kokkinis, A., Schindler, A., Rinaldi, C., Fischbeck, K. Tags: Neuromuscular Disease: Clinical Science Source Type: research