General and oral health status of preterm one-year-old very low and extremely low birthweight infants (a cross - sectional study).

AIMS: The aim of the present study was to evaluate the general and oral health status of a group of preterm one-year-old very low (VLBW) and extremely low birthweight (ELBW) infants and make a comparison with full-term one-year-old normal birthweight infants (NBW). METHODS: A cross-sectional study was conducted in 102 one-year-old preterm VLBW and ELBW infants, and the data obtained were compared to 87 one-year-old full-term NBW infants. The infants' medical histories were obtained from hospital records and interviews with the mothers. The oral cavities of all infants were examined under the same conditions. The chi-square test, Pearson's chi-square test of independence and Mann-Whitney test were used for the statistical evaluation, with P < 0.05 considered statistically significant. Relative risk (RR) and 95% confidence interval (CI) estimates for variables significantly associated with oral findings were calculated. RESULTS: Both perinatal variables (gestational age, mode of delivery, birthweight, Apgar score, resuscitation, orotracheal intubation and presence of intraoral pathology) and neonatal variables (antibiotic treatment and infections) had a significant association with prematurity, VLBW and ELBW. The one-year-old preterm VLBW and ELBW infants frequently suffered from general diseases, frequently received regular medication and had fewer erupted primary teeth; they also had a higher prevalence of developmental defects of the enamel and deformations of the hard palate. CONCLUSION: This study confirmed anamnestic, medical and oral differences between one-year-old preterm VLBW and ELBW and full-term NBW infants.

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR-1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene. In case 2, the SLC19A2 intron 1 mutation c.204+2T>G has never been reported before. TRMA subjects are at risk of diabetic ketoacidosis during intercurrent disease and arrythmias. Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control of diabetes mellitus. Patient 1 was suffering from hearing loss and rod-cone dystrophy at the time of diagnosis, however, she was unresponsive to thiamine substitution. Our patient 2 developed the hearing loss despite the early thiamine substitution, however no visual disorder had developed. The novel mutation described here extends the list of SLC19A2 mutations causing TRMA.

First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.

We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. We confirmed primary adrenal insufficiency. There were no signs of the external genitalia virilism. The replacement therapy with glucocorticoids and mineralocorticoids led to normal laboratory results. At the age of 12 years, we confirmed hypergonadotropic hypogonadism, which revealed disorder of steroidogenesis in the adrenal glands and in the gonads. The enzymatic block was found at the beginning of steroidogenesis. The mutation was confirmed in the CYP11A1 gene. The patient is compound heterozygote for the novel CYP11A1 missense mutation c.412G>A (p.Gly138Arg) in exon 2 and frameshift mutation c.508_509delCT (p.Leu170Valfs*30) in exon 3. The CYP11A1: c.412G>A (p.Gly138Arg) was predicted as pathogenic by in silico analysis. So far, only 19 patients with CYP11A1 mutations causing P450scc deficiency have been reported worldwide. There are no related reports in the Czech Republic.

[Has the pregnancy outcome of women with pregestational diabetes mellitus improved in ten years?]. / Zlepsil se osud gravidit zen s pregestacním diabetes mellitus za deset let?

INTRODUCTION: In spite of progress in medicine, studies from a number of countries indicate steadily increased risk of perinatal morbidity and mortality in the offspring of diabetic mothers. No data regarding the pregnancy outcome in women with diabetes mellitus type 1 and 2 (pregestational DM) have been published in the Czech Republic. The aim of the study was to evaluate the pregnancy course of women with pregestational DM and outcome of their offspring and to assess whether it has improved in ten years. METHODS: A retrospective evaluation of pregnancy outcome of pregestational DM women followed up in the University Hospital Pilsen in years 2000-2009 (Group A, n = 107) and comparison with the period 1990-1997 (Group B, n = 39) were performed. Wilcoxon non-paired test, contingency tables, step-wise logistic regression and step-wise linear multiple regression methods were used for statistical analyses. RESULTS: Data is presented as median (interquartile range). Women from the Group A were older 28 (25, 31) vs 25 (22, 27) years, p = 0.01. Otherwise, the groups did not statistically significantly differ in diabetes duration, BMI, and representation of women with type 2 diabetes. A better glycemic control (HbA1c, mmol/mol) was achieved in the Group A in all trimesters - 1st trimester: 59 (47, 67) vs 66 (56, 76), 2nd trimester: 46 (40, 52) vs 54 (48, 59) and 3rd trimester: 46 (40, 51) vs 53 (47, 60), p = 0.01. The caesarean section rate decreased (65.2 % vs 87.5 %, p < 0.05). The incidence of the respiratory distress syndrome after adjustment for age and diabetes duration also decreased (8.9 % vs 18.2 %, p < 0.05). A decreasing trend in the rate of premature delivery before 34th week of gestation (1.1 % vs 6.3 %) and neonatal mortality (1.1 % vs 2.9 %) was observed, however, the differences were not statistically significant. CONCLUSION: The achieved improved glycemic control led to only a partial improvement in the course of pregnancy and outcome of the offspring of diabetic mothers.

The presence of cariogenic and periodontal pathogens in the oral cavity of one-year-old infants delivered pre-term with very low birthweights: a case control study.

BACKGROUND: Recently, the dental literature has focused mainly on the microbial colonization of healthy full-term infants and their mothers or caretakers. However, oral microbial acquisition by premature infants has not been adequately investigated, and the correlation between pre-term birth and the presence of cariogenic and periodontal pathogens has not been determined. The aim of this study was to identify the presence and quantities of representative cariogenic and periodontal pathogens in the oral cavities of 12-month-old infants and compare the occurrence of these microbes between a cohort of pre-term infants with very low birthweights and a control cohort comprising full-term infants. METHODS: The research cohort was composed of 69 one-year-old infants, of whom 24 were born prematurely with very low birthweights and 45 of whom were carried to full term. Information regarding the infants' gestational age, mode of delivery, general health status, birthweight and antibiotic use were obtained from hospital records and through oral interviews. At 12 months of age, both groups of infants were examined, and unstimulated saliva samples from the dorsum of the tongue and dental plaque samples were collected. The microorganisms (Streptococcus mutans, Lactobacillus spp., Actinomyces spp., Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, Peptostreptococcus micros, Prevotella intermedia, Fusobacterium nucleatum) were identified and their quantities were evaluated using a PCR-based method. The chi-squared and Fisher's factorial tests were used for the statistical evaluations. RESULTS: The infants had a high prevalence of cariogenic microbes and of Fusosbacterium nucleatum and Aggregatibacter actinomycetemcomitans. Cariogenic microbes were detected in 91.7% of the very low birthweight infants and in all full-term infants. Periodontal pathogens were present in 83% of the pre-term infants and in 96% of the full-term infants. A significant difference was found between the cohorts in terms of the presence of S. mutans. Most of the very low birthweight infants had negative values of this microbe, while the full-term infants had positive values. CONCLUSIONS: This study confirms the early transmission of representative cariogenic and periodontal pathogens to the oral cavity of one-year-old infants and a higher prevalence of S. mutans in full-term infants than in premature infants.