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The study will include three cohorts of 12 patients each (aged 16–65 years) with genetically confirmed PMD including mitochondrial myopathy . Nine patients in each cohort will be treated with the drug, three with placebo. The drug will be given as a 2-hour continuous intravenous infusion daily for 5 consecutive days.
- Understanding mitochondrial myopathies: a review - PMC
Diet: Dietary needs are extremely variable from patient to...
- Understanding mitochondrial myopathies: a review - PMC
12 Ιουν 2024 · Mitochondrial disease results from failure of mitochondria to function properly. This can lead to less energy, cell injury and cell death. The most common organs that may experience damage are the brain, heart, liver, muscles, kidneys and the endocrine system.
Cardiopulmonary failure and acute cerebral events have been described as the leading cause of mortality in adult mitochondrial patients. 15 Patients with mitochondrial disease are more likely to have underlying myopathy, immobility, dysphagia, chronic intestinal pseudo-obstruction (CIPO), cardiomyopathy, and cardiac arrhythmias including Wolf ...
Certain dietary supplements may be of value in treating PMDs because, as nutrients and metabolic cofactors, they help increase mitochondrial ATP production, bypass a cellular defect (e.g., a deficiency in the activity of complexes I, II, or III in the ETC), or remove toxic metabolites [9, 14].
Diet: Dietary needs are extremely variable from patient to patient with mitochondrial myopathies. It is required to evaluate a patient’s nutritional deficiencies. Potential therapies include supplementing caloric intake, enteral feeding, increasing the frequency of meals, limited fasting, and parenteral nutrition ( Parikh et al., 2009 ).
14 Φεβ 2024 · We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005–21). We identified 94 patients. Median time from symptom onset to diagnosis was 11 years (interquartile range 4–21 years). Median age at diagnosis was 48 years (32–63 years).
19 Μαρ 2024 · INTRODUCTION. Mitochondrial diseases are present with a wide range of clinical phenotypes. The organ systems most reliant on aerobic metabolism are preferentially affected. Myopathy may be the sole or main sign, or merely an incidental finding associated with a multisystemic illness.
