Aims: The similarity between mucopolysaccharidosis (MPS) patients and juvenile idiopathic arthritis (JIA) leads to ineffective and needless anti-rheumatic treatment and delayed initiation of enzyme-replacement therapy, the early start of which is crucial for diminishing the disease progression and yielding better outcomes Background: The prevalence of joint involvement in the attenuated forms of MPS leads to the JIA misdiagnosis, especially in patients without distinctive facial dysmorphic features. Objective: Our study aimed to compare mild forms of MPS and JIA and create a diagnostic score helping to differentiate both conditions. Methods: 41 patients with mild forms of different types of MPS and 255 JIA patients with polyarthritis were included in the retrospective study. The routine clinical and laboratory features were used for the comparison analysis. Results: The main features of the MPS cohort were younger age at the disease onset, lower weight and height lower inflammation, and higher number of affected joints compared to JIA patients and involvement in the organs and system, specific for MPS. The majority of the patients had similar C-reactive protein levels. At least two extra-articular features with polyarticular involvement were the main discriminating factors for both conditions. The sum (>38) of the following criteria:ESR< 12 mm/h (38 points), growth delay (height ≤ -2.0 SD; 20 points), age of joint involvement < 1.0 years (24 points), male sex (15 points), and involvement of both elbows with limited range of motion (29 points) can help in the differentiation If a patient had no extra-articular features, typical for MPS. The specificity and sensitivity of this model are 91.0% and 92.7% respectively. Conclusion: This diagnostic algorithm might increase the suspicion of MPS and should be added to routine testing not miss the mild form of MPS inside JIA. Early diagnosis of mild cases allows for the initiation of treatment in patients with MPS at an earlier stage, which can significantly improve their daily functioning and quality of life.

Background. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities.Objective. The aim of the study is to create simple diagnostic criteria (DScore) that would allow to differentiate MPS from JIA for earlier MPS diagnosis.Methods. The retrospective multicenter study included analysis of clinical (joint, heart, eye involvement, hearing loss, hernias, psychomotor delay, noisy breathing, posture disorders, macrocephaly, hepatomegaly, splenomegaly, and growth delay) and laboratory data (ESR, CRP, hemoglobin, WBC, and platelets) from MPS patients (n = 41) and from rheumatoid factor-negative polyarticular category of JIA patients (n = 255). These variables allowed to differentiate both conditions and were used to create DScore.Results. Patients with MPS had younger onset age, male predominance, height and weight delay, lower inflammation markers (WBC, platelets, and ESR), and usually involved joints, especially cervical spine, upper limbs joints, hip, and small foot joints. The prevalence of eye involvement was similar for both diseases, however, the type of involvement was different. JIA patients had uveitis and its’ complications and MPS patients — corneal opacity and cataract. No differences in CRP levels were revealed in most cases. The major diagnostic criterion of MPS was the presence of more than one extra-articular manifestation associated with polyarticular involvement. DScore has included 5 following criteria: ESR ≤ 11 mm/h (38 points), height ≤ -2.0 SD (20 points), onset age of articular manifestations ≤ 1.1 year (24 points), male gender (15 points), and symmetrical limitation of movements in elbow joints (29 points). The sum > 38 points allowed us to differentiate MPS and JIA with sensitivity of 92.7% and specificity of 91.0%.Conclusion. This DScore can be used for differential diagnosis of mild MPS and JIA alongside with routine diagnostic procedures. DScore allows us to identify a group of patients with joint involvement who require MPS exclusion.

This article presents modern data on epidemiology, etiology, and clinical manifestations of mucopolysaccharidosis (MPS) type I in children. MPS develops due to deficiency of particular lysosomal enzyme which determines the disease type. The article considers in details disease's pathogenesis and classification. Evidence-based approaches to diagnosis (differential diagnosis included) are covered, moreover, special attention is paid to pathogenetic, symptomatic, and surgical treatment of MPS.

Introduction Chronic gastroduodenitis in adolescents is often accompanied by a decrease in bone density. The mechanisms of this relationship are not fully understood. Objective To study the level of 25 (OH)-vitamin D, vitamin D receptor gene polymorphisms and bone metabolism in adolescents with chronic gastroduodenitis in dependency of helicobacter pylori (HP) infection. Materials and methods 51 adolescents aged from 12 to 15 years old were examined. All patients had a morphologically checked chronic gastroduodenitis condition. Group 1 included 19 patients with HP infection and other 32 children without HP infection were put in a group 2. All children had a gastroenterological examination including urease test and taking a biopsy sample from the stomach. 25 (OH)-vitamin D in serum was determined by ELISA. Polymorphisms (ApaI, TagI, BsmI) of vitamin D receptor gene (VDR) were determined by PCR with restriction digest. Dual-energy x-ray absorptiometry of the lumbar region of the spine L1-L4 was carried out in all patients on a Hologic QDR 4500C densitometer equipped with pediatric reference base in order to study osteocalcin (OK) and β-Cross-Laps. Results A 25 (OH)-vitamin D deficiency was observed with an equal frequency in both groups (5.26% and 6.25%, p>0.05). The correlation between vitamin D levels and the presence of HP- infection was not found (r s = 0.417, p & gt; 0.05). At the same time, the frequency of occurrence of genotypes containing the allele B of the VDR BsmI gene was higher among patients without HP infection compared with children with Hp infection (p & lt; 0.05 χ2 = 6.03). In both groups, the carriers of the VDR BsmI gene B had a significantly higher level of osteocalcin in comparison with children without it (90.43 ± 36.03 ng/ml and63.02 ± 34.12 ng/ml, p<0.005). The carriers of the ApaI gene A allele in both groups had high bone mineral density and high levels of 25 (OH)-vitamin D, osteocalcin, and β-cross-laps in comparison to children without this allele. Children with hp-infection, carriers of the t + genotype of the TagI gene of the VDR gene had a higher bone mineral density (p = 0.001). Conclusion In adolescents with chronic gastroduodenitis, the bone metabolism and the level of 25 (OH)-vitamin D are related to genetic polymorphism gene VDR, and the presence of HP- infection as well.

Background. Identification of the genetic prerequisites for development of spinal deformity. Aim. The aim of the study was to assess the frequency of distribution of alleles and genotypes for polymorphisms -3731A/G (Cdx2) and +61968T/C (TaqI) of the VDR gene and -1997G/T and +1245G/T (Sp1) of the COL1A1 gene in children with scoliosis of various etiologies and in healthy children. Materials and methods. Clinical genetic testing was performed in 154 children with congenital scoliosis, 145 children with idiopathic scoliosis, and 278 children without an orthopedic pathology. The molecular genetic testing was performed by PCR. Results. Genotype tt/GG VDR gene incidence is twice as high in children with congenital scoliosis than in children who do not have scoliosis (11% and 5.2% of cases, respectively; χ² = 4.17; df = 1; p = 0.04). Conclusion. We have found that children with the allele carriers t(C) and genotype tt(CC) in patients with congenital scoliosis were significantly more likely than children without scoliosis spinal deformity.

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, Ca2+, 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, Ca2+ 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.

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).

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

Methods We examined 58 children with juvenile idiopathic arthritis. Clinical, serological and x-ray manifestations were analyzed in children and correlated with the genotypes. For detection erosion bone process we used ultrasound, x-ray, MRI and diagnostic arthroscopy with synovial biopsy. We investigated (PCR-RFLP) the status of p53 gene this children with juvenile idiopathic arthritis and 100 healthy children living in Russian Federation.

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.

Aim. To study association between stroke and gene polymorphism of angeotensin converting enzyme (ACE), angeotensin II type 1 receptor (ATR1), apolipoprotein СIII (APO CIII), apoproteine Е (APO E), methylentetrahydrofolate reductase (MTHFR), fibrinogen (Fb), endothelial NO-synthase (NOS3) in arterial hypertension (HT). Material and methods. Molecular genetic analysis by polymerase chain reaction was done in 41 patients with HT, who experienced first episode of acute disturbances of cerebral blood circulation (ADCBC). Results. Stroke rate inpatients withHT isassociated with A1166CofATR1 gene polymorphism, G-455A of Fbgene polymorphism and C677TofMTH-FR gene polymorphism. The high risk markers are C-allele of ATR1 gene, 455А allele and AA genotype of Fb gene, 677T allele of MTHFR. The A-allele and genotype AA of ATR1 gene, G-445 allele of Fb gene, С677-allele and CC genotype of MTHFR gene play protective role against ADCBC in HT. Conclusion. It is established an association between gene polymorphism of some molecules and ADCBC in HT

A missense mutation in the methylenetetrahydrofolate reductase gene (MTHFR), C677T, results in a thermolabile variant with reduced activity. Elevated levels of homocysteine have been recognized as a risk factor for vascular disease. Insulin-dependent diabetes mellitus (IDDM) is characterized by a higher prevalence of vascular complications. We analyzed the frequency of C677T MTHFR in IDDM and control groups. The genotype distribution did not differ between control subjects (n = 297) and IDDM patients (n = 392) (chi(2) = 5.413, df = 2, P > 0.05). The MTHFR T677T genotype was found significantly more frequently in IDDM patients with diabetic nephropathy (0.216) compared with the IDDM patients without nephropathy (0.056); the odds ratio was 2.635 (95% CI 1.768-3.927). Thus, we suggest that the T677T genotype of the MTHFR gene is an independent risk factor for diabetic nephropathy in IDDM.