a 7 year old boy with desanctis-cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

ABSTRACT. The activity and duration of the inflammatory process in myocarditis affects severity course determines development cardiomyofibrosis, arrhythmias, dilatation syndrome, occurrence progression heart failure. mechanisms that affect transition from an active to chronic ventricular dysfunction have not yet been elucidated. Aim. To study peculiarities acute impact on quality life patients,...

background: metabolic syndrome (ms) is an important risk factor that is associated with vitamin d deficiency, according to recent studies. this study aimed to evaluate the relationship between serum 25-hydroxyvitamin d level and risk of metabolic syndrome in children in birjand. materials and methods: a case-control study on 6 to 18 years old metabolic syndrome patients, this investigation was ...

BACKGROUND Multiple studies suggest creatine mediates anti-oxidant activity in addition to its established role in cellular energy metabolism. The functional significance for the heart has yet to be established, but antioxidant activity could contribute to the cardioprotective effect of creatine in ischaemia/reperfusion injury. OBJECTIVES To determine whether intracellular creatine levels inf...

BACKGROUND Urinary concentrations of creatine and guanidinoacetic acid divided by creatinine are informative markers for cerebral creatine deficiency syndromes (CDSs). The renal excretion of these substances varies substantially with age and sex, challenging the sensitivity and specificity of postanalytical interpretation. METHODS Results from 155 patients with CDS and 12 507 reference indivi...

the term congenital hypopituitarism defines deficiency of all of the pituitary hormones. hypoglycemia and microphallus (in males) are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. we report a case of congenital panhypopituitarism with deficiency of six major hormones and association with severe hypoglycemia, impaired liver function tests and congenita...

  Objective: This prospective study performed to evaluate blood biomarkers alterations with administration of propofol for maintenance of anaesthesia during long oral and maxillofacial surgeries in order to estimate the risk of Propofol Infusion Syndrome (PRIS). This rare syndrome often would be happened in long duration or high dose infusion which is characterized by the combination of metabol...

We describe a case of a limb-girdle myopathy presenting with myoglobinuria. A partial deficiency of muscle carnitine palmitoyltransferase (EC 2.3.1.21) may also have been present. All "muscle-type" serum enzymes were markedly increased (to between 30- and 400-fold their respective upper reference limits) and creatine kinase (EC 2.7.3.2) isoenzyme 2 (CK-MB) was increased 130-fold but was still l...

In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an inability to degrade glycogen stores. We present a novel case of McArdle disease (glycogen stora...