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Barbagli G.,Centro Chirurgico Toscano | Pellegrini G.,University of Modena and Reggio Emilia | Corradini F.,University of Modena and Reggio Emilia | Montorsi F.,Unit of Urology | And 3 more authors.
European Urology | Year: 2016

Background: Repair of penile urethral strictures is a challenging problem for which different techniques have been suggested. Objective: To describe a new surgical technique for one-stage penile urethroplasty using an oral graft and glue, and to assess its safety and efficacy. Design, setting, and participants: A retrospective review of medical records for patients who underwent one-stage penile urethroplasty using oral mucosa and glue from February 2013 to October 2014 was performed. Surgical procedure: The penile urethra was opened and the urethral plate was incised to create a wide window within which the oral graft was pasted with glue. The urethra was sutured over the catheter. Outcome measurements and statistical analysis: Clinical data were collected in a database. Intraoperative and postoperative complications and outcomes were assessed. A descriptive statistical analysis was performed. Results and limitations: Fourteen patients were included in the study. Median operative time was 60. min. The median postoperative stay was 3 d. Three intraoperative and one postoperative complication occurred. In all patients, voiding cystourethrography 2 wk after surgery failed to show urethral fistula or sacculation. No patients complained of penile chordee or sexual dysfunction after surgery. Median follow-up was 16 mo. Among the 14 patients, 12 (85.7%) procedures were successful and two (14.3%) were failures. Study limitations include the small sample size and short follow-up. Conclusions: An in vitro study and a one-stage reconstruction of penile urethral strictures with an oral mucosa graft and glue showed that the procedure is safe and efficient, but further studies including larger series of patients and longer follow-up are required. Patient summary: We report on the repair of penile urethral stricture using one-stage urethroplasty with oral mucosa and glue. This new technique was safe and effective, with limited complications and satisfactory outcomes. We plan to increase the use of this technique in the future. The combined use of oral mucosa and glue for one-stage penile urethroplasty is safe and efficient and, in our experience, considerably increases the success rate for this type of urethroplasty. © 2016 European Association of Urology.

Hradsky O.,Charles University | Dusatkova P.,Charles University | Lenicek M.,Charles University | Bronsky J.,Charles University | And 6 more authors.
BMC Medical Genetics | Year: 2010

Background: The CTLA4 (cytotoxic T-lymphocyte antigen 4) gene is associated with several immunopathologic diseases and because of its important immuno-regulatory role it may be considered also a plausible candidate for a genetic association with inflammatory bowel diseases. Previously published studies found no association of CTLA4 with Crohn's disease itself, but some indicated an association with its subphenotypes. The aim of this study was to assess the association in the Czech population, using a set of markers shown to associate with other diseases.Methods: Six polymorphisms within the CTLA4 region were investigated in 333 patients with Crohn's disease and 482 unrelated healthy controls, all Caucasians of Czech origin. The genotypes of the SNPs were determined using the TaqMan SNP genotyping assays. Haplotypes were reconstructed using an expectation-maximization algorithm, and their association with the condition was assessed using log-linear modeling. Then, potential interactions were tested between the CTLA4 variants and other genetic factors known to confer the disease susceptibility.Results: No crude associations with Crohn's disease were found for the tested CTLA4 variants under the log-additive or dominant models. However, when stratified for the genetic risk conferred by the variants in the NOD2 (the p.Leu1007fsX1008, rs5743293) or the IL23R (p.R381Q, rs11209026), a significant negative association emerged for the minor alleles of CTLA4 CT60 (rs3087243), JO31 (rs11571302), JO27-1 (rs11571297) polymorphisms. This negative association with CTLA4 was apparent only in the strata defined by presence minor alleles at the NOD2 rs5743293 (here the CTLA4 CT60 A coffered an OR = 0.43, 95%CI 0.19 - 0.95 for the presence of CT60 A), or IL23R rs11209026 (here the OR for presence of CT60 A was 0.23, 95%CI 0.07 - 0.71). We observed this effect also for the haplotype consisting of minor alleles of the three tightly linked CTLA4 markers. Furthermore, this haplotype was associated with the younger age at diagnosis (OR 1.52, 95%CI 1.09 - 2.11, p = 0.014).Conclusions: A protective effect of a CTLA4 haplotype was unmasked after stratification for the risk variants in the NOD2 and IL23R genes, and may point towards the biological relevance of the molecule in the pathogenesis of the disease. © 2010 Hradsky et al; licensee BioMed Central Ltd.

Bolivar J.,University of Antioquia | Sandoval O.,University Hospital of Neiva | Osorio J.,University of Antioquia | Gallo J.,University of Antioquia | Gallo J.,Clinical and Research Center
Apunts Medicina de l'Esport | Year: 2015

Introduction: Although the grade of fusion of the left distal radial epiphysis (LDRE) observed by magnetic resonance imaging (MRI) has been linked to chronological age (CA), its relationship to Tanner stage of the genitals in the Latin American population is unknown. Objective: To evaluate the relationship of CA and sexual maturity with skeletal maturity (SM) determined by MRI of the LDRE in adolescent football players from Medellin, Colombia. Materials and methods: Cross-sectional study that included 60 male football players with certified legal age between 12 and 18 years. Medical evaluation and MRI of the LDRE using a 1.5 T scanner was performed according to a described protocol. The image reading was performed by 3 blinded evaluators. SM was classified as: A: immature; B: developing; C: mature, and inter- and intra-observer variability was assessed. Results: Among the football players included in the study, the average body mass index and body fat were 19.6 ± 2.0 kg/m2 and 11.1 ± 1.2%, respectively. A correlation of CA and the Tanner stage of genital maturity with SM (Kendall's Tau_b 0.686 and 0.693, respectively; P < .001) was found. All players classified as stage C were 17 or older and Tanner stage V. The inter-observer and intra-observer agreement showed a kappa index of 0.36 (P < .001) and 0.60 (P < .001), respectively. Conclusion: A relationship was found between CA and sexual maturity and SM by MRI of the LDRE in adolescent football players. Classification by stage of SM in 3 categories could be more practical and have implications for competition. © 2015 Consell Català de l'Esport. Generalitat de Catalunya.

Lenicek M.,Charles University | Duricova D.,Clinical and Research Center | Hradsky O.,Charles University | Dusatkova P.,Charles University | And 5 more authors.
Inflammatory Bowel Diseases | Year: 2014

Background: The oxidative stress is thought to play an important role in Crohn's disease (CD). As serum bilirubin represents the major endogenous antioxidant, this article aimed to evaluate in a clinical study, whether serum bilirubin levels and genes affecting its systemic concentrations are associated with CD. Methods: This exploratory case-control study was based on pediatric (n = 119) and adult (n = 504) patients with CD and 370 appropriate healthy control subjects. The (GT)n and (TA)n dinucleotide variations in heme oxygenase 1 (HMOX1) and bilirubin UDP-glucuronosyl transferase (UGT1A1) gene promoters were determined by fragment analysis. Serum bilirubin levels were compared in a subset of 90 cases and 229 controls, for whom biochemical data were available. Results: Substantially lower serum bilirubin levels were detected in patients with CD compared with controls (7.4 versus 12.1 μmol/L, P < 10-6). Serum bilirubin levels were significantly lower in patients with CD within all UGT1A1*28 genotypes (P < 0.05). UGT1A1*28 homozygotes with wildtype NOD2 gene variant exhibited significant delay in CD manifestation (P = 0.004), while the protective effect of UGT1A1*28 homozygosity was lost in those patients with mutated NOD2 gene. No associations between CD risk and individual HMOX1 gene variants were observed. Conclusions: CD is associated with significantly low serum bilirubin levels, most likely as a result of increased oxidative stress accompanying this inflammatory disease. UGT1A1*28 allele homozygosity, responsible for higher bilirubin levels, seems to be an important modifier of CD manifestation. Copyright © 2014 Crohn's & Colitis Foundation of America, Inc.

Hradsky O.,University Hospital Motol | Dusatkova P.,University Hospital Motol | Lenicek M.,Charles University | Bronsky J.,University Hospital Motol | And 5 more authors.
Inflammatory Bowel Diseases | Year: 2011

Background: The role of the IBD5 locus in development of Crohn's disease (CD) has not been clarified. In the Czech population we examined its genetic association using variants of the SLC22A4 (rs1050152), SLC22A5 (rs2631367), two single nucleotide polymorphisms (SNPs) shown to be associated with CD in genome-wide studies (rs6596075 and rs2188962), and four SNPs previously shown to tag the haplotype blocks 4, 7, 9, 10 of the IBD5 locus (IGR2063b-1, IGR2230a-1, IGR100Xa-1, IGR3236a-1). Methods: The genotype, phenotype, and allelic frequencies were compared between 469 unrelated patients with CD (177 pediatric-onset, 292 adult-onset) and 470 unrelated healthy controls, all Caucasians of Czech ancestry. Results: The most significant difference between patients and controls was found for the SNP rs6596075 (odds ratio [OR] = 0.70 for the G allele; 95% CI 0.52-0.94) in the dominant model and SNP IGR2063b-1 (OR = 1.38 for the G allele; 95% CI 1.14-1.67) in the log-additive model. We found a strong linkage disequilibrium across the IBD5 locus except rs6596075. The haplotype consisting of minor alleles of all tested SNPs except rs6596075 was carried by 31% patients and 23% control subjects (OR = 1.35, 95% CI 1.06-1.72). The association of variants in SLC22A4 and SLC22A5 was dependent on this risk haplotype, while the strong association of the rs6596075 was seemingly independent. In the analysis of subphenotypes we found only an association of the penetrating disease with rs6596075 (OR = 2.13; 95% CI 1.31-3.47). Conclusions: Our study confirms the importance of IBD5 in determining CD susceptibility, and demonstrates that two independent genetic factors may be responsible for the association observed within this locus. Copyright © 2010 Crohn's & Colitis Foundation of America, Inc.

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