THE UTILITY OF CONTRAST-ENHANCED ULTRASONOGRAPHY IN DIAGNOSING CHILD’S VESICOURETERAL REFLUX – A CASE REPORT AND A REVIEW OF THE LITERATURE

Vesicoureteral reflux represents the reflow of bladder content in the ureter and pelvicalyceal system with their subsequent dilation. Most of the cases of urinary tract infections in child are associated with vesicoureteral reflux. We present the case of a 3-year-old female patient, with a history of multiple symptomatic urinary tract infections, who was admitted in our clinic for specialty investigations and establishment of an adequate therapy. The clinical exam and the laboratory tests did not point out any pathological elements. The native abdominal ultrasound was without pathological modifications, while the contrast-enhanced ultrasonography revealed bilateral vesicoureteral reflux. The renal scintigraphy with DMSA showed impaired renal function on the right side, of 39% with duplicity of the collector system and moderate dilation of the superior pelvis, and normal function of the left kidney. The recommendations consisted in long-term antibiotic prophylaxis, contrast-enhanced ultrasonography once a year and nephrologist consult every 6 months. The particularity of the case consists in diagnosing a bilateral vesicoureteral reflux by contrast-enhanced ultrasonography in a female patient with a history of multiple urinary tract infections, in whom the native renal ultrasound did not point out any pathological elements

Metabolic therapy: cardioprotective effects of orotic acid and its derivatives

Metabolic therapy involves the administration of a substance normally found in the human body to enhance cellular reactions involved in the pathogenesis of disease. Myocardial ischaemia/reperfusion injury represents a leading cause of morbidity and mortality, also in cardiovascular disease. Therapeutic strategies aimed at limiting cardiomyocyte death during the postischaemic reperfusion and in the perioperative settings are nowadays extensively studied. Conceived originally as a dietary constituent (known as vitamin B13) only, it is now apparent that most orotic acid is synthesized in the human body where it arises as an intermediate in the biosynthetic pathway of pyrimidine nucleotides. Previous investigations in the heart suggest that orotate and its derivatives could be of significant clinical benefit in the treatment of heart disease. The present brief review is concerned with the current knowledge of the major effects of these compounds in both experimental and clinical cardiology. The potential mechanisms and biochemical pathways responsible for cardioprotection are highlighted.Biomedical Reviews 2010; 21: 47-55

Modulation of mitochondrial respiratory function and ROS production by novel benzopyran analogues

A substantial body of evidence indicates that pharmacological activation of mitochondrial ATP-sensitive potassium channels (mKATP) in the heart is protective in conditions associated with ischemia/reperfusion injury. Several mechanisms have been postulated to be responsible for cardioprotection, including the modulation of mitochondrial respiratory function. The aim of the present study was to characterize the dose-dependent effects of novel synthetic benzopyran analogues, derived from a BMS-191095, a selective mKATP opener, on mitochondrial respiration and reactive oxygen species (ROS) production in isolated rat heart mitochondria. Mitochondrial respiratory function was assessed by high-resolution respirometry, and H2O2 production was measured by the Amplex Red fluorescence assay. Four compounds, namely KL-1487, KL-1492, KL-1495, and KL-1507, applied in increasing concentrations (50, 75, 100, and 150 �mol/L, respectively) were investigated. When added in the last two concentrations, all compounds significantly increased State 2 and 4 respiratory rates, an effect that was not abolished by 5-hydroxydecanoate (5-HD, 100 �mol/L), the classic mKATP inhibitor. The highest concentration also elicited an important decrease of the oxidative phosphorylation in a K+ independent manner. Both concentrations of 100 and 150 �mol/L for KL-1487, KL-1492, and KL-1495, and the concentration of 150 �mol/L for KL-1507, respectively, mitigated the mitochondrial H2O2 release. In isolated rat heart mitochondria, the novel benzopyran analogues act as protonophoric uncouplers of oxidative phosphorylation and decrease the generation of reactive oxygen species in a dose-dependent manner

UN CAZ RAR DE SINDROM HUNTER – PREZENTARE DE CAZ

Mucopolizaharidozele (MPZ) sunt un grup de boli genetice rare din marea familie de boli lizozomale. Tulburările (MPZ) sunt cauzate de o defi cienţă în activitatea unei enzime lizozomale specifi ce necesare pentru degradarea glicozaminoglicanilor (GAG). MPZ tip II, numită şi sindromul Hunter, constă dintr-un defi cit al unei enzime, iduronat-2-sulfataza. Vă prezentăm un caz rar de sindrom Hunter cu prezentare atipică. Este vorba despre un băiat de 2,7 ani, care s-a prezentat la Clinica Pediatrie I cu simptome de infecţie a tractului respirator, cu antecedente de multiple infecţii ale otice şi respiratorii. Examenul clinic e evidenţiat: statură mare, moderat supraponderal, dismorfi sm facial (caracteristici faciale grosiere, frunte proeminentă, nas lărgit şi deprimat), degete mici butucănoase, cu flexie a articulaţiilor interfalangiene distale, rigiditate articulară, abdomen proeminent cu hernie ombilicală, hepatomegalie şi splenomegalie, precum şi uşor retard mental. Aspectul clinic a fost sugestiv pentru MPZ tip I, II sau VII. Dozarea enzimelor cu rol în metabolismul mucopolizaharidelor lizozomale a relevat un nivel scăzut al iduronat-2-sulfatazei, modifi cari caracteristice pentru MPZ tip II. Diagnosticul enzimatic a fost confi rmat prin analiza ADN-ului molecular care a arătat o mutaţie a genei hemizigote iduronate-2-sulfatazei la nivelul intronului 3 (c.419-2A>G). S-a instituit terapia de substituţie enzimatică genetic recombinată de iduronat-2-sulfatază (Elaprase®). Evoluţia cazului, după aproape doi ani de tratament cu Elaprase este favorabilă, fără pierderi ale achiziţiilor neurologice