FCN1 polymorphisms are not the markers of dental caries susceptibility in Polish children: A case-control study.

OBJECTIVE: To examine the association of four FCN1 SNPs: -542G>A (rs10120023), -144C>A (rs10117466), +6658C>T (rs148649884), and +7895A>G (rs150625869) with dental caries in Polish children. SUBJECTS AND METHODS: The study group consisted of 261 15-year-old Polish teenagers: 82 children with "higher" caries experience (having Decayed Missing Filled Teeth, DMFT >5) and 179 children with "lower" caries experience (having DMFT ≤5). Moreover, in additional comparison, a group of 229 children with caries experience (DMFT ≥1) was compared to a caries-free (DMFT =0) group of 32 children. Extraction of genomic DNA was performed from buccal swabs, and genotyping was performed by Real-Time PCR. RESULTS: FCN1 SNPs +6658C>T and +7895A>G appeared to be monomorphic in our sample. The genotype, allele, or haplotype distributions in FCN1 SNPs -542G>A and -144C>A in children with "higher" caries experience did not differ significantly from those in "lower" caries experience group. Similar results with no significant differences were demonstrated for subjects with DMFT ≥1 compared to subjects with DMFT =0. CONCLUSION: FCN1 SNPs are not the markers of dental caries susceptibility in Polish children.

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

OBJECTIVE: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. MATERIAL AND METHODS: The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. RESULTS: Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. CONCLUSIONS: Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.

Assessment of selected carbohydrate parameters in children exposed to gestational diabetes in utero.

OBJECTIVES: The study was undertaken to assess the selected carbohydrate parameters in children exposed to gestational diabetes in utero. METHODS: 50 children exposed to gestational diabetes were compared with 46 control subjects. Anthropometric parameters of a newborn were obtained from the medical records. In all participants height, body mass, waist and hip circumferences were measured; BMI, WHR and WHtR were calculated. Values of fasting glucose, insulin, C-peptide and HbA1c were measured and HOMA2-IR, HOMA2-S, HOMA2-B were calculated. In obese children (BMI ≥95th percentile) OGTT was performed. RESULTS: The prevalence of overweight/obesity in the study group was 38%, in the control group 41% (p=0.19). Higher fasting glucose level (p=0.02) and HbA1c (p=0.00004) were found in the study group comparing to the control. In children exposed to GDM in utero a positive correlation of fasting insulin and WHR (Rs=0.31, p=0.028) as well as significantly lower HOMA2-B (p=0.03) were observed. In the study group higher HOMA2-IR (p=0.0002) and HOMA2-B (p=0.0000039) and also lower HOMA2-S (p=0.0002) were observed among participants with overweight/obesity comparing to children with normal body weight. In the study group a correlation of HOMA2-IR and SD of the birth weight was found (Rs=0.28, p=0.049). CONCLUSIONS: Children exposed to gestational diabetes in utero, in spite of similar prevalence of overweight/obesity comparing to their non-exposed peers, could have higher risk of glucose intolerance and diabetes mellitus in future. Towards observed decreased insulin sensitivity and compensatory increase in insulin secretion, prevention of overweight and obesity in this group seems to be essential.

A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome.

OBJECTIVE: Silver-Russell syndrome is heterogeneous both clinically and genetically. The best known genetic aberrations existing in this syndrome are an 11p15 epimutation, present in 20-60% patients, and a maternal uniparental chromosome 7 disomy (7-15%) (upd(7)mat). Children with SRS suffer from physical growth impairments - intrauterine and after birth. MATERIAL AND METHODS: The study group consisted of 38 children aged 2 to 17 (x=8.9 ± 4.0 years). These children had undergone a genetic analysis in search for the 11p15 epimutation and the upd(7)mat. Somatic growth was also analysed in terms of birth parameters and postnatal BMI, weight and height. The aforementioned parameters were compared in a subgroup of children with the genetic aberrations and with a control group of children born with IUGR. RESULTS: In the study group a mean weight SD on birth was -3.41 ± 1.22, the birth height was -1.25 ± 2.08 SD and a head circumference of -3.56 ± 1.93 SD. No significant differences were noted between the SRS study group and the control group in reference to weight and head circumference (p>0.05). Such difference was, however, seen in birth height. Children with 11p15 epimutation had significantly lower weight and height at birth, but a significantly larger head circumference than children without this genetic aberration. When analysing further development of children with SRS, a significantly smaller height SD, body mass and BMI was observed, compared with children from the control group. CONCLUSIONS: Children with SRS present impaired somatic development compared to children with IUGR, and these with a genetic aberration develop worse.

[Current problems of hygiene and epidemiology]. / Problemy higieny i epidemiologii, takze molekularnej.

In this review, the data available in the literature concerning determinants of human health from the public health point of view have been summarized. Presented newest concepts of human health include genomic and proteomic perspectives in the complex web of interactions between genes and environment. In 2002 epidemiologist and hygienist also has an access to an almost complete description of a single human genome but the challenges remain to move from the description to understanding the function of the genome. Studying the role of molecular determinants of human health is an area of research that has gained attention, particularly during the past 50 years, since the structure of DNA helix has solved. This field will become more dynamic one in the near future and the important data will rapidly accumulate. Further researches are clearly needed to determine not only carcinogenic potential of human ecosystems, but also to establish new methods of risk assessment. The knowledge gained will be crucial in prophylactic health care systems.