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.

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.

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.

[Has the pregnancy outcome of women with pregestational diabetes mellitus improved in ten years?].

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.

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.