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1.
Eur J Case Rep Intern Med ; 11(2): 004268, 2024.
Article in English | MEDLINE | ID: mdl-38352812

ABSTRACT

MELAS - an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes - is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA). Its clinical manifestations are highly variable; mainly stroke-like episodes, seizures, recurrent headaches, or muscle weakness. However, gastrointestinal complications such as chronic intestinal pseudo-obstruction (IPO), pancreatitis, gastroparesis and hepatopathy are also common. In this report we describe a young patient with gastrointestinal complication of MELAS which led to superior mesenteric artery syndrome (SMAS). It is rare but not surprising combination and should be considered in cases with significant weight loss and resistance to symptomatic treatment. The optimal energy support is the main pillar of the treatment. LEARNING POINTS: Gastrointestinal complications of MELAS such as chronic intestinal pseudo-obstruction, pancreatitis and gastroparesis can lead to undernutrition.Superior mesenteric artery syndrome is a rare condition but should be considered in cases with significant weight loss and resistance to symptomatic treatment.Optimal caloric intake and energy support can improve the condition of patients with MELAS.

2.
Vnitr Lek ; 65(1): 30-36, 2019.
Article in English | MEDLINE | ID: mdl-30823835

ABSTRACT

Adenosintriphosphate is basic unit of cellular energetics, although during situations of high energy demand, cell had developed metabolic inert molecules - phosphagens - including phosphocreatine. Nowadays there are not so many recent publications describing positive effect of phosphocreatine supplementation., its potential benefit in supplementation is mainly in cardiology - acute myocardial infarction, acute or chronic heart failure. Another field of medicine with potential use of phosphocreatine is nephrology - in dialysis patients, or in psotemnopausal women in prevention of osteoporosis. In following article, we present review of studies describing positive effect of using phosphocreatine in specific group of patients in internal medicine. Key words: ATP - ischemia - phosphagens - phosphocreatine.


Subject(s)
Energy Metabolism , Phosphocreatine , Adenosine Triphosphate , Female , Heart Failure/drug therapy , Humans , Internal Medicine/trends , Myocardium , Phosphocreatine/therapeutic use
3.
Article in English | MEDLINE | ID: mdl-30198520

ABSTRACT

INTRODUCTION: Hormone changes during pregnancy lead to increased plasma lipid levels. When there is added disorder of lipid metabolism, this otherwise physiological change can cause extremely high triglyceride levels with potentionally life-threatening complications, such as non-biliary acute pancreatitis. MATERIALS AND METHODS: We present a case report of a 27-year-old pregnant woman with familial hyperchylomicronemia and a history of 7 hypertriglyceridemia-induced acute pancreatitis attacks. Three attacks occured during her first pregnancy with the last one leading to its termination at 33 weeks owing to the death of the fetus. During her second pregnancy, standard treatment was not able to lower the triglyceride levels sufficiently and she suffered another acute pancreatitis attack. Therapeutic plasma exchange was therefore chosen as the treatment method. RESULTS AND CONCLUSION: Plasma exchange was succesful in the secondary prevention of acute pancreatitis attack and she delivered a healthy baby at 36 weeks of gestation. Treatment was very well tolerated by the mother and the fetus and this supports the use of apheresis as a safe and efficient method in tackling gestational hypertriglyceridemia.


Subject(s)
Hypertriglyceridemia/prevention & control , Pancreatitis/prevention & control , Plasma Exchange , Pregnancy Complications/therapy , Adult , Female , Humans , Hypertriglyceridemia/blood , Hypertriglyceridemia/therapy , Pancreatitis/blood , Pancreatitis/therapy , Pregnancy , Pregnancy Complications/blood , Pregnancy Outcome , Pregnancy Trimester, Third , Secondary Prevention
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