BackgroundRecently, 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.MethodsThe 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.ResultsThe 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.ConclusionsThis 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.
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.
Autoimmune diseases can be accompanied by presence of various antiphospholipid antibodies (aPL). The laboratory criteria of antiphospholipid syndrome are based on detection of anticardiolipin, lupus anticoagulant or to antib2-glycoprotein I but currently a significance of other multiple aPL is being discussed. Because of their vascular and neuroinflammatory effect aPL, if being transplacentally transferred, might inflict damage in developing organism.The aim of our study was to determine the occurrence of eight selected aPL in offspring of mothers with proven autoimmune disease with aPL positivity. The possible influence of aPL presence on clinical, ultrasound and laboratory outcome of children was observed as well.The prospective study included 38 women: 17 women with primary antiphospholipid syndrome and 21 women with other diagnosed autoimmune disease with detected aPL. Also included were 39 children born to the above mentioned mothers between January 2009 and April 2010 in Perinatology Centre in Pilsen, Czech Republic. The control group consisted of 30 mothers without AD and their 30 healthy singletons.Preliminary results of the study showed the presence of aPL in 42.1% neonates of aPL positive mothers with autoimmune disease, six month later aPL were present in only 37.5 % of these children. Observed occurrence of aPL positivity at 6 months of age in originally negative offspring could be attributed to vaccination or food exposure. Psychomotor development of children has proceeded without major deviations. The follow-up study continues and will evaluate both groups of children at two years of age. Lupus (2012) 21, 793-795.
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.
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