RESUMO
BACKGROUND: Certain single nucleotide polymorphisms (SNPs) in genes such as PADI4 (coding for peptidyl arginine deiminase 4), PDCD1 (coding for programmed cell death 1), and CTLA4 (coding for cytotoxic T-lymphocyte-associated protein 4) are linked to rheumatoid arthritis (RA). However, links between SNPs rs2240340, rs10204525 and rs231775 in PADI4, PDCD1 and CTLA4 respectively, and juvenile idiopathic arthritis (JIA), the commonest type of childhood arthritis, are unclear. We aimed to determine whether any of these SNPs are associated with JIA, and to clinical indices disease activity score (JADAS 71) and functional disability score (CHAQ). METHODS: We genotyped the three SNPs in 150 children with polyarticular JIA and 160 healthy children, recording standard health questionnaires, clinical features and laboratory markers. RESULTS: The TT genotype of PADI4 rs2240340 (aOR/95%CI 2.64: 1.31-5.30, P = 0.006) and CT genotype of PDCD1 rs10204525 (aOR/95%CI 4.99: 2.98-8.36, P < 0.0001) were associated with JIA. The AG+GG genotype of CTLA4 rs231175 was modestly linked to disease activity (aOR/95%CI 2.44 (1.19-5.04), p = 0.015). PADI4 rs2240340 was linked to CHAQ score (genotypes p = 0.013, alleles p = 0.006), whilst PDCD1 rs10204525 was linked to anti-CCP antibodies (genotypes p = 0.004), RF (genotypes p = 0.01), and the CHAQ score (genotypes p = 0.005, alleles p = 0.013). CONCLUSIONS: There are various roles for these SNPs in PADI4, CTLA4 and PDCD1 in the diagnosis and, potentially, in the management of JIA.
Assuntos
Artrite Juvenil/genética , Artrite Reumatoide/genética , Antígeno CTLA-4/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Receptor de Morte Celular Programada 1/genética , Proteína-Arginina Desiminase do Tipo 4/genética , Alelos , Estudos de Casos e Controles , Criança , Feminino , Frequência do Gene/genética , Genótipo , Humanos , MasculinoRESUMO
BACKGROUND: Little is known regarding the effect of bariatric surgery on urinary incontinence. METHODS: Between September 2008 and November 2014, 240 female patients underwent bariatric surgery. RESULTS: The prevalence of urinary incontinence preoperatively was 45 % (108). Eighty-two (76 %) completed urinary function questionnaires pre-operatively and post-operatively. Fifty-seven (70 %) underwent laparoscopic gastric bypass, twenty-four (29 %) underwent sleeve gastrectomy and one underwent a banding procedure. Thirty-one (38 %) reported leaking on sneezing or coughing-stress urinary incontinence (SUI). Thirteen (16 %) complained of leaking before reaching the toilet-overactive bladder syndrome (OAB). The remaining thirty-eight (46 %) reported mixed symptoms. The mean pre-operative weight and BMI were 133 (18) kg and 50 (SD = 6.2) kg/m(2) respectively. The mean post-operative BMI drop was 16 (SD = 5.2) kg/m(2). Preoperatively, 61 (75 %) reported moderate to very severe urinary incontinence compared to 30 (37 %) post-operatively (χ (2) = 3.24.67, p = 0.050). Twenty-seven (33 %) patients reported complete resolution of their urinary incontinence. Fifty-one (62 %) patients required incontinence pads on a daily basis pre-operatively, compared to 35 (43 %) post-operatively (χ (2) = 22.211.6, p = 0.00). The mean International Consultation on Incontinence Questionnaire- Urinary Incontinence short form (ICIQ-UI SF) score was 9.3 (SD = 4.4) pre-operatively compared to 4.9 (SD = 5.3) post-operatively (t = 7.2, p = 0.000). The improvement score post-operatively was 8 (SD = 3). A significant difference in the ICIQ-UI SF was identified between OAB and SUI groups when adjusting for age, number of children, type of delivery and pre-op BMI (t = 1.98, p = 0.05). CONCLUSION: Bariatric surgery results in a clinically significant improvement in urinary incontinence. However, this is not proportional to pre-operative BMI, weight loss, age, parity and mode of delivery.