INTRODUCTION DMD is an X-linked recessive disease which occurs due to deficiency of dystrophin; an important component of muscle cytoskeleton. It is the most common form of muscular dystrophy affecting 1 in 3300 live male births. In spite of extensive research in humans and mdx mouse models no satisfactory therapeutic approach has been developed. In DMD patients, low phosphocreatine (PCr) / pho...

Exercise induced rhabdomyolysis is a complication of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (TFP) deficiency that frequently leads to exercise avoidance. Dietary therapy for most subjects includes medium-chain triglyceride (MCT) supplementation but analysis of diet records indicates that the majority of patients consume oral MCT only with brea...

Deficient bioenergetic signaling contributes to myocardial dysfunction and electrical instability in both atrial and ventricular cardiac chambers. Yet, approaches capable to prevent metabolic distress are only partially established. Here, in a canine model of tachycardia-induced congestive heart failure, we compared atrial and ventricular bioenergetics and tested the efficacy of metabolic rescu...

BACKGROUND: Cardiac Troponin I (cTnI) is known as a cardiac biomarker in determining the myocardial damage of diseases which affect the heart muscle. OBJECTIVES: This study aims to evaluate the serum cTnI concentration in Markhoz Breed goats suffering selenium (Se) deficiency and its correlation with electrocardiographic parameters, and activity of creatine kinase (CK) and aspartate aminotransf...

Myxedematous psychosis was first described in 1979 by Pr Asher, it is a rare diagnosis associating an acute psychosis, rhabdomyolysis whose etiology hypothyroidism. We report the case of 32-year-old patient followed for 6 years schizophrenia, who had not any treatment 3 years, and admitted with psychotic attack consisting delusions persecution. The examination revealed oedematose syndrome, deep...

Detecting psychiatric disorders of secondary origin is a crucial concern for the psychiatrist. But how can this reliably be done among a large number of conditions, most of which have a very low prevalence? Metabolic screening undertaken in a population of subjects with psychosis demonstrated the presence of treatable metabolic disorders in a significant number of cases. The nature of the sympt...

Heart failure (HF) is associated with weight loss, and cachexia is a well-recognized complication. Patients have an increased risk of osteoporosis and lose muscle bulk early in the course of the disease. Basal metabolic rate is increased in HF, but general malnutrition may play a part in the development of cachexia, particularly in an elderly population. There is evidence for a possible role fo...

We present a patient with neuroleptic malignant syndrome and intestinal pseudo-obstruction misdiagnosed as being secondary to septicaemia. The management of the patient is discussed with emphasis on the role of creatine kinase and liver function tests.