Dragana Ristic

HLA genotyping in pediatric celiac disease patients

Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk for CD incidence. Presence of susceptible HLA-DQ genotypes does not predict certain disease development, but their absence makes CD very unlikely, close to 100%. Here we presented for the first time the distribution of HLA-DQ genotypes in the group of pediatric celiac patients from the University Childrens Hospital, Belgrade, Serbia and estimated risk for CD development that these genotypes confer. Seventy three celiac disease patients and 62 healthy individuals underwent genotyping for DQA1, DQB alleles and DRB1 allele. 94.5% of patients carried alleles that encode DQ2 protein variant and 2.7% carried alleles that encode DQ8 protein variant. Two patients carried single DQB1*02 allele. No patients were negative for all the alleles predisposing to CD. The highest HLA-DQ genotype risk for CD development was found in group of patients homozygous for DQ2.5 haplotype, followed by the group of heterozygous carriers of DQ2.5 haplotype in combination with DQB1*02 allele within the other haplotype. The lowest risk was observed in carriers of a single copy of DQB1*02 or DQA1*05 allele or other non-predisposing alleles. HLA genotyping, more informative than serological testing commonly used, proved to be a useful diagnostic tool for excluding CD development.

Gilbert’s syndrome in children: Our experience

INTRODUCTION Gilberts syndrome represents the most frequent hereditary disorder of bilirubin metabolism. It occurs in 2-7% of subjects in general population, and is manifested by mild unconjugated hyperbilirubinaemia of benign nature. OBJECTIVE The study was conducted in order to analyse our experience related to the circumstances of disclosure, age at onset and sex distribution of Gilberts syndrome in children. METHOD The diagnosis of Gilberts syndrome was based on the findings of mild unconjugated hyperbilirubinaemia in the absence of haemolysis and organic liver disease, as well as significant increase of bilirubin unconjugated fraction in serum after a 3-day hypocaloric diet (400 kcal/daily). RESULTS Of 58 subjects with Gilberts syndrome, there were 40 (68.97%) boys and 18 (31.03%) girls, indicating a 2.22 fold higher incidence of boys than girls. The age at diagnosis of the disorder was similar in boys and girls, and was 12.2-18 (X =14.71 +/- 1.55) years for boys and 10.5-16.4 (X = 14.38 +/- 2.10) years for girls (p > 0.05). Except for 3 girls aged below 12 years, in all other patients the diagnosis was made after that age; in 20, between age 12 and 14 years and in 14, between age 14 and 16 years, while in 10 patents, it was made at age between 16 and 18 years. In 20 (34.48%) subjects, hyperbilirubinaemia was disclosed on routine paediatric examination, in 19 (32.76%) when differentiating the cause of recurrent or acute abdominal pain, in 17 (29.3%) during febrile condition and in 2 during insufficient caloric intake. The values of unconjugated bilirubinaemia, both before a hypocaloric test and after a 3-day energy deprivation, were higher in boys than girls, but this difference was statistically significant only after the 3-day hypocaloric diet in age group between 16 and 18 years (p = 0.038). Also, no significant difference was found in bilirubinaemia level between the different age groups either in boys or girls. CONCLUSION According to our findings, in children, Gilberts syndrome is manifested only in puberty, and 2.22 times more often in boys than girls. It is most frequently revealed during a routine paediatric examination, as well as when investigating the cause of abdominal pain and fever. A significantly higher level of serum bilirubin in boys as related to girls is registered only after a hypocaloric diet in age group between 16 and 18 years.

Variations in the concentration of total human milk proteins in the first month of lactation

INTRODUCTION Human milk proteins are maximally adapted to physiological needs of a neonate. Thus, depending on the speed of the neonatal growth and development, the content of milk proteins changes, both in quantity and quality. OBJECTIVE The study was conducted in order to determine variations of total protein concentrations in milk in the first and third lactation week in lactating mothers of term and preterm neonates. Also, we analyzed the influence of the mode of delivery, neonatal Apgar score and parity on the concentration of human milk proteins in both lactation phases. METHOD The study aims were evaluated on the sample of 48 women, of whom 33 were mothers of term neonates and 15 of neonates born between the 34th to 37th gestational weeks. Total protein level of the lactation milk from the middle phase was determined using the standard laboratory method (Lowry et al., 1951), and the obtained differences were analyzed by t-test. RESULTS Total protein concentration in term colostrum was 17.60-45.17 g/l (X = 24.71 +/- 5.19), while in preterm colostrum it was 28.39-73.30 g/l (X = 39.17 +/- 11.08). The total protein level of mature milk in women who had term delivery was 11.90-22.11 g/l (X = 16.39 +/- 2.96), while in women who had preterm delivery it was 14.50-44.19 g/l (X = 23.25 +/-8.96). The obtained results indicated that total protein concentration in women who had preterm delivery was significantly higher than that of women who had term delivery, both in the colostral and mature phase of lactation. (p < 0.01). Also, the difference in the protein concentration was statistically highly significant (p < 0.01) in the colostral and mature phase of lactation, both in women who had term and preterm delivery. Variations in the total protein level of human milk were not significant, depending on the prematurity stage, the mode and severity of delivery and parity, both in the first and third week of lactation. CONCLUSION Our results show that total protein concentration in human milk was significantly higher in the first than the third week of lactation. In both lactation phases, milk protein content was higher in women who had preterm delivery than those having had term delivery. The influence of prematurity stage, the mode and severity of delivery and parity on the total milk protein level was not significant.

Hospital infections rate and health staff density in a Neonatology Department

Objective. The aim of our study was to compare staffing trends for physicians and nurses with hospital infections (HIs) rate at a neonatology department of tertiary care health facility. Methods. The prospective cohort study was conducted at Neonatology Department, Clinical Centre Kragujevac, Serbia. The incidences of neonates with HIs were calculated for each of the quarters during the 5-year period. The data about the number and structure of staff for each quarter of the study period were collected from the official work schedule lists of the department. Results. This study registered a total of 272 HIs occurring in 264 neonates. The incidence rate of patients with HIs was 13.36% and the incidence density of HIs was 5.85 per 1,000 patient-days. In the observed period the trend of incidence rate of patients with HIs was stable, but the trend of incidence density of HIs was increasing, however without statistical significance. The highest incidence rates of patients with HIs were recorded in the third quarter of all observed years respectively: 17.44% in 2012, 16.74% in 2013, 23.47% in 2014, 18.18% in 2015 and 22.74 in 2016. The average number of nurses in the first shift ranged from 5.0 to 7.0, but in second shift was 3.0 to 4.0 only, and the least number of nurses worked in the third quarter of each year. The average number of physicians in the first shift ranged from 2.33 to 4.47 and they were also the fewest in numbers in the third quarter. We observed strong negative correlation between the average incidence rate of patients with HIs and the average number of nurses in the first shift (r=-0.977, p=0.023). Conclusion. Optimal nurse and physician staffing of neonatal departments in developing countries and the avoidance of inter-quarter variations in number of staff at duty would decrease the incidence of HIs and probably create overall savings of the hospital budget.