Aluminum exposure in premature babies related to total parenteral nutrition and treatments.

Asut E, Köksal N, Dorum BA, Özkan H. Aluminum exposure in premature babies related to total parenteral nutrition and treatments. Turk J Pediatr 2018; 60: 385-391. This study aimed to measure aluminum contamination of parenteral nutrition (PN) solutions and aluminum contents of parenteral products given to newborn infants for nutrition or treatment. In this study, the aluminum content of the first products used to prepare PN solutions for premature neonates, of the final parenteral products prepared therefrom, and of the parenteral drugs frequently used in newborn units was measured using the inductively coupled plasma mass spectrometry. The aluminum contamination of all parenteral nutritional products evaluated, except for one, was detected to be over the recommended doses. Of all the first products analyzed within the scope of the study, trace-element preparation, preparation containing fat-soluble vitamins, 20% dextrose solution, calcium gluconate ampoule and sodium phosphate ampoule indicated high aluminum contamination. The total aluminum content of the prepared final products was identified to be at least 40% higher than the total aluminum content of the ingredients added to the compound. Accordingly, the minimum amount of aluminum content was measured as 233 µg/kg/day in nutrition solutions prepared for a baby weighing 1,000 g. Contamination was detected in 9 of the 18 drugs evaluated. This study indicated that the rate of aluminum exposure of the premature babies receiving parental nutrition is still much higher than the safe doses recommended as 5 µg/kg/day by the FDA. Products with lower aluminum content should be preferred in the care of premature infants.

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

OBJECTIVE: Deficiency of steroid 5-alpha reductase type 2 (5αRD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of testosterone into dihydrotestosterone, leads to disorders of sex development. This study presents the clinical and genetic results of patients with 5αRD2 deficiency. METHODS: 5αRD2 deficiency was detected in 6 different patients from 3 unrelated families. All patients were reared as girls. Two of the patients presented with primary amenorrhea, one with primary amenorrhea and rejection of female gender, and the others with masses in their inguinal canals. Chromosome and sex-determining region Y (SRY) gene analyses were performed in all patients. Additionally, five exons of the SRD5A2 gene were amplified with polymerase chain reaction in the obtained DNA samples and evaluated. RESULTS: While 46,XY was identified in 5 patients, 47,XXY was detected in one patient. The SRY gene was positive in all patients. The p.Ala65Pro (c193G>C) mutation and V89L polymorphism were observed in exon 1 of the SRD5A2 gene in all patients. CONCLUSION: Identification of this mutation and polymorphism is a significant indicator of presence of 5αRD2 deficiency in Southeastern Turkey, a geographical region where consanguineous marriages are also highly common.

Congenital anomalies of coronary arteries in children: the evaluation of 22 patients.

Although congenital coronary artery anomalies are seen in 0.6-1 % of adult patients undergoing coronary angiography, the data for the pediatric population are few. This study of 22 children with coronary artery anomalies evaluated them in terms of demographic and clinical features and analyzed their angiographic findings and surgical results. Databases in the Department of Pediatric Cardiology at the University of Uludag were searched for all the patients with a diagnosis of congenital coronary artery anomaly who underwent coronary angiography between 1993 and 2013. Patients with coexistent congenital heart disease were excluded from the study. The study noted 22 patients (0.9 %; 10 boys and 11 girls) with coronary artery anomalies. The mean age of these patients was 58.77 ± 52.04 months (range, 1 month-16 years). Coronary arteriovenous fistula (50 %) and anomalous left coronary artery from the pulmonary artery (ALCAPA) (36 %) were the most common anomalies. In addition, the study included one patient with diffuse coronary artery hypoplasia, one patient with muscular bridge, and one patient with left main coronary artery originating from the right aortic sinus valsalva. Of the 11 patients who had coronary atrioventricular fistula, 7 were asymptomatic, whereas 75 % of the patients with ALCAPA syndrome were admitted because of heart failure. Although 13 patients had an exact diagnosis by echocardiography, 50 % of the patients with ALCAPA syndrome had their diagnosis determined by catheter angiography performed because of severe mitral regurgitation or dilated cardiomyopathy. The mortality rate for all the patients was found to be 18.1 %. Eight patients with coronary arteriovenous fistula have been followed up without surgery to the present. In contrast, seven patients with ALCAPA syndrome have undergone surgery, and three have died. Two of these patients died during the postoperative period, and the remaining patient died suddenly during the preoperative period at home. Isolated congenital coronary artery anomalies are very rare in the pediatric population. Although most congenital coronary artery anomalies are clinically silent, they may be associated with severe symptoms in children. Recognition of potentially serious anomalies such as ALCAPA syndrome is mandatory so that early surgical treatment can be prescribed.