Caries in adolescents in relation to their skeletal status.

OBJECTIVE: Despite well-known evidence of association of caries with bone metabolic diseases, there are only a small number of studies about caries and bone mineral density (BMD) on pediatric population. We evaluated the possibility of bone mineralization and metabolism disturbances in children with caries and compared them with healthy individuals. MATERIALS AND METHODS: A total of 123 patients with caries (63 boys and 60 girls), aged 12-15 years, were included. The children were divided according caries stage: the decayed, missing, and filled tooth (DMFT) group (n=73) and the initial caries (IC) group (n=50), which have clinically active initial caries lesions on the enamel ("white spots"). Caries-free (CF) children (n=42) were the healthy controls. Bone mineralization was measured in all children with caries and healthy controls by dual-energy X-ray absorptiometry of the lumbar spine (L1-L4). For the assessment of bone metabolism, osteocalcin, carboxy terminal telopeptide of type I collagen (CTX), parathyroid hormone, Ca²âº, inorganic phosphate, and total alkaline phosphatase were used. RESULTS: Children with DMFT have low BMD and BMD Z score in association with low osteocalcin and high CTX levels, compared with IC (p=0.008 and p=0.0001, respectively) and CF children (p<0.0000 and p=0.0001, respectively). In DMFT, Ca²âº was significantly higher compared with IC (p=0.01) and CF (p=0.003). Caries stages negatively correlated with BMD (r=-0.86, p<0.001). A differently directed correlation between CTX and osteocalcin was detected: CTX was negatively related to osteocalcin in the DMFT group (r=-0.22, p=0.043) and positively related in the IC (r=0.42, p=0.002) and CF children (r=0.58, p=0.0000). CONCLUSIONS: Children with any caries stage have decreased BMD accompanied with increased bone resorption. We consider that caries could be a marker of impact bone mineralization and metabolism.

Genetic polymorphisms of collagen type I α1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis.

BACKGROUND: Collagen type I is one of the key proteins involved in the maturation, development and mineralization of bone. Genetic polymorphisms of collagen type I alpha-1 chain (COL1A1) gene are associated with low bone mineral density and higher risk of fractures in adults and children. We hypothesize that the polymorphic alleles and genotypes of COL1A1 gene influence bone mineralization and metabolism in children with juvenile idiopathic arthritis (JIA). METHODS: We recruited 196 children with JIA in our study. Bone mineral density (BMD) was measured by lumbar spine dual-energy X-ray absorptiometry. Osteocalcin, Ca, Ca2+ and inorganic phosphate (Pi) were utilized for the assessment of bone metabolism. Molecular testing: Sp1 (rs1800012) and -1997G/T (rs1107946) polymorphisms of COL1A1 gene were detected RFLP. RESULTS: No differences in genotype, allele and haplotype distribution of COL1A1 were detected among children with normal and low BMD (LBMD; <-2 standard deviation). The presence of GG genotype of Sp1 increased the incidence of LBMD in Tanner II to III children (odds ratio (OR) = 9.7 [95% confidence interval (CI), 1.2; 81.7], p = 0.02) as well as GG genotype of -1997G/T increased the frequency of LBMD in Tanner IV to V children (OR = 4.5 [95% CI, 0.9; 22.0], p = 0.048). Tanner I children with -1997GG genotype had lower Ca2+ and osteocalcin and higher Pi compared with carriers of -1997Т allele. Tanner IV to V children with -1997GG genotype had lower BMD and BMD-Z score than carriers of -1997Т. CONCLUSIONS: The evaluation of the biologic effects of the GG Sp1 and GG of -1997G/T polymorphism of COL1A1 has shown negative effect on BMD and mineral turnover related to pubertal stage.

Glucocorticoid receptor gene polymorphism and juvenile idiopathic arthritis.

BACKGROUND: The glucocorticoid receptor gene (NR3C1) has been suggested as a candidate gene affecting juvenile idiopathic arthritis (JIA) course and prognosis. The purpose of this study is to investigate the glucocorticoid receptor gene BclI polymorphism (rs41423247) in JIA patients, the gene's role in susceptibility to juvenile idiopathic arthritis, and its associations with JIA activity, course and bone mineralization. METHODS: One hundred twenty-two Caucasian children with JIA and 143 healthy ethnically matched controls were studied. We checked markers of clinical and laboratory activity: morning stiffness, Ritchie Articular Index (RAI), swollen joint count (SJC), tender joint count (TJC), physician's visual analog scale (VAS), hemoglobin level (Hb), leukocyte count (L), platelet count (Pl), Westergren erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), albumin, DAS and DAS28. Bone mineralization was measured by dual-energy X-ray absorptiometry (DXA) of lumbar spine L1-L4. Assessments of bone metabolism included osteocalcin, C-terminal telopeptide (CTT), parathyroid hormone (PTH), total and ionized calcium, inorganic phosphate and total alkaline phosphatase (TAP). BclI polymorphism was genotyped by polymerase chain reaction restriction fragment length polymorphism. RESULTS: No association was observed between glucocorticoid receptor gene polymorphism and the presence or absence of JIA. In girls with JIA, the presence of the G allele was associated with an unfavorable arthritis course, a younger age of onset of arthritis (p = 0.0017), and higher inflammatory activity. The higher inflammatory activity was demonstrated by the following: increased time of morning stiffness (p = 0.02), VAS (p = 0.014), RAI (p = 0.048), DAS (p = 0.035), DAS28 (p = 0.05), Pl (p = 0.003), L (p = 0.046), CRP (p = 0.01). In addition, these patients had bone metabolism disturbances as follows: decreased BA (p = 0.0001), BMC (p = 0.00007), BMD (0.005) and Z score (p = 0.002); and higher levels of osteocalcin (p = 0.03), CTT (p = 0.036), TAP activity (p = 0.01) and ionized calcium (p = 0.017). In boys with JIA, no significant differences were observed related to the polymorphic alleles or genotypes. CONCLUSIONS: We suggest that G allele and the GG genotype of the glucocorticoid receptor gene BclI polymorphism contribute to an unfavorable course and low bone mineral density in girls with JIA.

Type 2 deiodinase Thr92Ala polymorphism impact on clinical course and myocardial remodeling in patients with Graves' disease.

Patients with thyreotoxicosis have variable clinical manifestations and various degree of cardiomyopathy which severity depends on many factors. Last years the genetic factors predicting development and clinical features of thyrotoxic symptoms and thyreotoxic cardiomyopathy became more evident. It is known, that production of T3 in various tissues including cardiac muscle is limited by deiodinase 2 (D2). Recent studies showed that certain polymorphisms, including Thr92Ala of D2 gene, are implicated in the development of thyrotoxic symptoms and thyreotoxic cardiomyopathy. Individuals with Ala92Ala genotype have lower D2 activity in tissues compared to other genotypes. In our study we focused on codon 92 polymorphism of D2 gene in relation to clinical manifestations of thyreotoxic cardiomyopathy and Echo-cardiography parameters in patients with Graves' disease.