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1.
J Urol ; : 101097JU0000000000004126, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38985890

RESUMO

PURPOSE: Patient- and family-centered communication is essential to health care equity. However, less is known about how urologists implement evidence-based communication and dynamics involved in caring for diverse pediatric patients and caregivers. We sought to evaluate the feasibility and acceptability using video-based research to characterize physician-family communication in pediatric urology. MATERIALS AND METHODS: We assembled a multidisciplinary team to conduct a multiphase learning health systems project to establish the Urology HEIRS (Health Experiences and Interactions in Real-time Studies) corpus for research and interventions. This paper reports the first phase, evaluating feasibility and acceptability based on consent rate, patient diversity, and qualitative identification of verbal and paraverbal features of physician-family communication. We used applied conversation analysis methodology to identify salient practices across 8 pediatric urologists. RESULTS: We recruited 111 families at 2 clinic sites; of these 82 families (N = 85 patients, ages 0-20 years) participated in the study with a consent rate of 73.9%. The racial/ethnic composition of the sample was 45.9% non-Hispanic White, 30.6% any race of Hispanic origin, 16.5% non-Hispanic Black/African American, 4.7% any ethnicity of Asian/Asian American, and 2.3% some other race/ethnicity; 24.7% of families used interpreters. We identified 11 verbal and paraverbal communication practices that impacted physician-family dynamics, including unique challenges with technology-mediated interpreters. CONCLUSIONS: Video-based research is feasible and acceptable with diverse families in pediatric urology settings. The Urology HEIRS corpus will enable future systematic studies of physician-family communication in pediatric urology and provides an empirical basis for specialty-specific training in patient- and family-centered communication.

2.
J Sex Med ; 19(12): 1766-1777, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36216747

RESUMO

BACKGROUND: Spina bifida (SB) may differentially impact adults' participation in solo and partnered sexual behaviors, but little research investigates this topic. AIM: Describe solo and partnered sexual behaviors among an international sample of adult men and women with SB. MAIN OUTCOME MEASURES: Ever participated (no/yes) and recent participation (>1 year ago/within last year) in solo masturbation, cuddled with a partner, held hands with a partner, kissed a partner, touched a partner's genital, had genitals touched by a partner, gave a partner oral sex, received oral sex from a partner, vaginal sex, anal sex, and sex toy use. METHODS: Data were drawn from a larger cross-sectional, internet-based survey assessing the sexual behaviors of an international sample of men and women with SB. We used logistic regression to examine the impact of background (gender, age, independent living, and relationship status) and health (shunt status, ambulation, and genital sensation) factors on each outcome. RESULTS: The sample consisted of 345 respondents aged 18-73 years from 26 nations. Very few (<3%) had no lifetime experience with any solo or partnered behaviors; 25.0% reported participating in all behaviors at some point in their lives. The median number of past year sexual behaviors (of 16 total) was 7. Lifetime and recent participation were associated with demographic and health factors. CLINICAL IMPLICATIONS: Despite impairment, adults with spina bifida do participate in solo and partnered sexual behaviors. Medical personnel who work with this population should include discussions about sexuality as part of routine care. STRENGTHS & LIMITATIONS: Although this research measured solo and partnered sexual behavior in large international sample of adults with spina bifida, it is limited by its cross-sectional retrospective design and non-clinical convenience sample. CONCLUSION: Despite disability, many adults with SB participate in solo and partnered sexual behavior. Medical and psychosocial supports are needed to help adults in this population enjoy sexuality in a healthy and safe manner. Hensel DJ, Misseri R, Wiener JS, et al. Solo and Partnered Sexual Behavior Among an International Sample of Adults With Spina Bifida. J Sex Med 2022;19:1766-1777.


Assuntos
Comportamento Sexual , Disrafismo Espinal , Humanos , Adulto , Masculino , Feminino , Estudos Transversais , Estudos Retrospectivos , Comportamento Sexual/psicologia , Masturbação/psicologia , Parceiros Sexuais , Disrafismo Espinal/psicologia
3.
J Urol ; 205(6): 1770-1777, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33525923

RESUMO

PURPOSE: We assessed opinions of females with congenital adrenal hyperplasia and their parents about the parent's ability to choose early genital surgery for these patients. MATERIALS AND METHODS: We conducted an online survey of females with congenital adrenal hyperplasia (46XX,16+ years old) and independently recruited parents (2019-2020) diagnosed in first year of life in the United States. A multidisciplinary medical team, women with congenital adrenal hyperplasia and parents drafted the survey. Fisher exact test was used. RESULTS: Of 57 females with congenital adrenal hyperplasia (median age 39 years), 93.0% underwent genital surgery (median 1-2 years old). Most females (79.0%) believed legislation prohibiting surgery in childhood would cause harm. Most (64.9%) believed a ban "would have been harmful to me" (24.6% not harmful, 10.5% neutral). Most females (70.2%) believed a ban undermined parental rights to make medical decisions in their child's best interest. While 75.4% did not believe a ban was in the best interest of females with congenital adrenal hyperplasia, 14.0% did (10.5% neutral). For 132 parents of females with congenital adrenal hyperplasia (parent/child median age 40/11 years), 78.8% of children underwent surgery (median <1 year old). Most parents (93.9%) believed legislation prohibiting surgery in childhood would cause harm. Most (77.3%) believed a ban "would have harmed my daughter" (12.1% no harm, 5.3% neutral, 5.3% no answer). Parents were more likely than females with congenital adrenal hyperplasia to oppose a ban (p ≤0.02). Most parents (90.9%) believed a ban undermined parental rights. While 93.9% did not believe a ban was in the best interest of females with congenital adrenal hyperplasia, 3.8% did (2.3% neutral). CONCLUSIONS: The majority of females with congenital adrenal hyperplasia and their parents support the parents' ability to decide about potential genital surgery, opposing moratoria on surgery in childhood.


Assuntos
Hiperplasia Suprarrenal Congênita/cirurgia , Atitude Frente a Saúde , Comportamento de Escolha , Intervenção Médica Precoce , Pais/psicologia , Pacientes/psicologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Autorrelato , Procedimentos Cirúrgicos Urogenitais
4.
Pediatr Int ; 63(4): 423-429, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32745355

RESUMO

BACKGROUND: We previously developed the Japanese version of The Quality of Life Assessment of Spina Bifida in Teenagers, a health-related quality-of-life instrument specific to children aged 13-17 years with spina bifida (SB). The Quality of Life Assessment of Spina Bifida in Children is a version of this questionnaire for children aged 8-12 years. The purpose of this study was to develop a Japanese version of the Quality of Life Assessment of Spina Bifida in Children (QUALAS-C-J) and verify its reliability and validity. METHODS: Three urologists specializing in SB, 2 nurses, and 1 statistician developed the QUALAS-C-J and conducted a pilot and main survey. Participants included children with SB and non-disabled (ND) children. Participants completed the QUALAS-C-J and the Japanese version of KIDSCREEN-27 (J-KIDSCREEN) without parental help. RESULTS: Five children with SB participated in the pilot study and provided face and content validity. Sixty-three children with SB and 40 age- and sex-matched ND children participated in the main survey. The intraclass correlation coefficient in the retest was 0.80, and Cronbach's alpha in each domain was 0.73. The validity was verified by factor analysis, convergent / divergent validity, and known-groups validity. Factor analysis converged to the same two-factor structure as the original version. The correlation between QUALAS-C-J and J-KIDSCREEN-27 was weak (r=-0.06-0.30). The scores of both groups for the two domains of the QUALAS-C-J were significantly lower in SB than ND children. CONCLUSIONS: QUALAS-C-J is easy to answer, suitable for Japanese children with SB, reliable, and valid. It can be a communication tool for children with SB, medical staff, families, communities, and school teachers.


Assuntos
Qualidade de Vida , Disrafismo Espinal , Adolescente , Criança , Humanos , Japão , Projetos Piloto , Reprodutibilidade dos Testes , Inquéritos e Questionários
5.
J Urol ; 203(6): 1207-1213, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31951496

RESUMO

PURPOSE: We determined the long-term risks of additional surgery after bladder augmentation in a modern spina bifida cohort accounting for differential followup. MATERIALS AND METHODS: We retrospectively reviewed patients with spina bifida who were born after 1972 and were followed at our institution after augmentation surgery performed between 1979 and 2018. Outcomes included diversion, bladder stones, perforation, reaugmentation, laparotomy for bowel obstruction, and benign and malignant bladder tumors. Survival analysis was used for the entire cohort and the modern cohort (detubularized and reconfigured ileocystoplasty beginning in 2000). RESULTS: A total of 413 patients were included in the study. At a median followup of 11.2 years 80.9% of the patients had undergone ileocystoplasty and 44.1% had undergone 370 additional surgeries. Ten-year risk of any reoperation was 43.9%, with 17.4% of patients undergoing 2 or more and 9.9% undergoing 3 or more additional surgeries. Outcomes included conversion to a diversion (2.7% at 10-year followup) and bladder stones (28.2% with recurrence in 52.4%) irrespective of detubularized reconfigured status (p ≥0.20). Bladder perforation risk was 9.6% for patients undergoing vs 23.7% for those not undergoing detubularized reconfigured ileocystoplasty (p=0.01). Similarly reaugmentation rate was 5.3% for patients undergoing vs 15.2% for those not undergoing detubularized reconfigured ileocystoplasty (p=0.001). Finally, 10-year reperforation risk was 32.1% for patients undergoing vs 73.8% for those not undergoing detubularized reconfigured ileocystoplasty (p=0.053). Other risks included bowel obstruction (4.5% with recurrence in 15.8%), nephrogenic adenoma (2.2% with regrowth in 48.2%) and malignancy (0.0% at 20 years). For 222 patients in the modern cohort (median followup 9.1 years) 10-year risk of any reoperation was 46.0%, which consisted of diversion in 4.0%, stones in 32.9% (recurrence in 44.5%), perforation in 8.8% (recurrence in 42.2%), reaugmentation in 4.3%, obstruction in 4.9% (recurrence in 10.0%), adenoma in 4.7% (regrowth in 40.0%) and cancer in 0.0%. CONCLUSIONS: Bladder augmentation is long-lasting. While benefiting continence and renal outcomes, this operation frequently requires additional surgeries, necessitating close followup. Since survival analysis based risks of alternative management options such as incontinent diversion are unavailable, comparisons with augmentation are unfeasible.


Assuntos
Disrafismo Espinal/complicações , Bexiga Urinaria Neurogênica/cirurgia , Bexiga Urinária/cirurgia , Adenoma/epidemiologia , Adenoma/cirurgia , Adolescente , Criança , Feminino , Seguimentos , Humanos , Obstrução Intestinal/epidemiologia , Obstrução Intestinal/cirurgia , Masculino , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Bexiga Urinária/lesões , Cálculos da Bexiga Urinária/epidemiologia , Cálculos da Bexiga Urinária/cirurgia , Neoplasias da Bexiga Urinária/epidemiologia , Neoplasias da Bexiga Urinária/cirurgia , Bexiga Urinaria Neurogênica/etiologia , Derivação Urinária/estatística & dados numéricos , Adulto Jovem
6.
Acta Odontol Scand ; 78(4): 250-255, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32013665

RESUMO

Objectives: Carbonic anhydrase (CA) VI is supposed to take part in pH or buffering capacity regulation, which can influence the caries risk of an individual. Its expression in the saliva can be modified by single nucleotide polymorphism (SNP). The aim was to investigate SNP in the CA VI gene in relation to active dental caries and physiochemical properties of saliva.Materials and methods: One hundred and thirty participants aged 11-16 years were involved. Clinical examinations were carried out using standardized WHO criteria, DMFT/DMFS and white spot lesions score was evaluated. Saliva samples were examined for salivary properties and CA VI concentration. DNA evaluated in the investigation was extracted from the buccal smear. Three SNP within CAVI gene (rs2274327; rs2274328; rs2274333) were selected and genotyping was performed.Results: In the active caries group, the mean CAVI concentration was significantly lower than in caries free group (p = .014). No association between increased or decreased risk of caries and analysed SNPs was found. There were some significant relations concerning SNPs and salivary buffer capacity and flow rate in rs2274327 and rs2274328.Conclusions: Polymorphism in the CAVI gene can affect salivary properties but there is no direct connection with dental caries.


Assuntos
Anidrases Carbônicas/genética , Cárie Dentária/enzimologia , Cárie Dentária/genética , Éxons/genética , Hemoglobinas Glicadas/metabolismo , Saliva/metabolismo , Adolescente , Criança , Índice CPO , Humanos , Concentração de Íons de Hidrogênio , Polimorfismo de Nucleotídeo Único/genética
7.
J Urol ; 202(6): 1256-1262, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31526259

RESUMO

PURPOSE: We assessed the probability of bladder augmentation/diversion and clean intermittent catheterization in classic bladder exstrophy in a multi-institutional cohort. MATERIALS AND METHODS: We included children born from 1980 to 2016 with bladder exstrophy and treated across 5 centers (exclusion criteria less than 1 year followup after birth, isolated epispadias, bladder exstrophy variants etc). Outcomes were probability of bladder augmentation/diversion after bladder closure and proportion of patients performing clean intermittent catheterization at last followup. Survival analysis was used. RESULTS: Of 216 patients 63.4% were male (median followup 14.4 years). Overall 4 patients (1.9%) underwent primary diversion and 212 underwent primary closure (72.6% in first week of life). After primary closure 50.9% underwent augmentation, 4.7% diversion and 44.8% neither. By age 18 years 88.5% underwent a bladder neck procedure (synchronous augmentation 27.3%). On survival analysis the probability of bladder augmentation/diversion was 14.9% by age 5 years, 50.7% by 10 years and 70.1% by 18 years. Probability of bladder augmentation/diversion varied significantly between centers (p=0.01). Probability of bladder augmentation/diversion was 60.7% 10 years after bladder neck procedure. At last followup of the entire cohort 67.4% performed clean intermittent catheterization. Among 95 patients with intact native bladders 30.5% performed clean intermittent catheterization (channel 72.4%). Among 76 adults without a diversion 85.5% performed clean intermittent catheterization (augmented bladder 100.0% clean intermittent catheterization, native bladder 31.3%). Fifteen patients underwent diversion (continent 8, ureterosigmoidostomy 5, incontinent 2). CONCLUSIONS: On long-term followup probability of bladder augmentation/diversion increased with age, with 1 in 2 patients by age 10 years and the majority in adulthood. Probability of bladder augmentation/diversion differed among institutions. Almost a third of patients, including adults, with a closed native bladder performed clean intermittent catheterization. Considering all adults only 14% did not perform clean intermittent catheterization.


Assuntos
Extrofia Vesical/terapia , Cateterismo Uretral Intermitente/estatística & dados numéricos , Procedimentos de Cirurgia Plástica/estatística & dados numéricos , Derivação Urinária/estatística & dados numéricos , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Probabilidade , Procedimentos de Cirurgia Plástica/métodos , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Bexiga Urinária/anormalidades , Bexiga Urinária/cirurgia , Derivação Urinária/métodos , Adulto Jovem
8.
J Urol ; 202(3): 612-616, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31042110

RESUMO

PURPOSE: Reaugmentation cystoplasty rates vary in the literature but have been reported as high as 15%. It is likely that bladders augmented with detubularized and reconfigured bowel are less likely to require reaugmentation. We assessed the incidence of reaugmentation among patients with spina bifida at 2 high volume reconstruction centers. MATERIALS AND METHODS: We retrospectively reviewed medical records of patients with spina bifida who underwent enterocystoplasty before age 21 years (1987 to 2017). Those who did not undergo augmentation with a detubularized and reconfigured bowel segment were excluded from analysis. Data on demographic and surgical variables were collected. Reaugmentation was the main outcome. One analysis was performed using the entire cohort and another analysis was restricted to patients with ileocystoplasty performed in the last 15 years (2002 to 2017). Survival analysis was used. RESULTS: A total of 289 patients were identified. Enterocystoplasty was performed in patients at a median age of 8.1 years (median followup 11.3, IQR 5.2-14.9). Most initial augmentations were performed using ileum (93.4%), followed by sigmoid (6.2%). Seven patients underwent reaugmentation, including 6 with initial augmentation using ileum and 1 with initial augmentation using sigmoid. On survival analysis risk of reaugmentation was 1.1% at 5 years and 3.3% at 10 years after the original surgery. All reaugmentations occurred within the first 9 years of followup. In the more contemporary cohort (162, median followup 7.0 years) only 1 patient underwent reaugmentation at 2.0 years. CONCLUSIONS: The risk of reaugmentation after enterocystoplasty with a detubularized and reconfigured bowel in the spina bifida population is lower than that reported in initial series.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Procedimentos de Cirurgia Plástica/efeitos adversos , Disrafismo Espinal/complicações , Bexiga Urinaria Neurogênica/cirurgia , Procedimentos Cirúrgicos Urológicos/efeitos adversos , Anastomose Cirúrgica/efeitos adversos , Anastomose Cirúrgica/métodos , Anastomose Cirúrgica/estatística & dados numéricos , Criança , Pré-Escolar , Colo Sigmoide/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Procedimentos Cirúrgicos do Sistema Digestório/estatística & dados numéricos , Feminino , Humanos , Íleo/cirurgia , Masculino , Procedimentos de Cirurgia Plástica/métodos , Procedimentos de Cirurgia Plástica/estatística & dados numéricos , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Medição de Risco , Resultado do Tratamento , Bexiga Urinária/inervação , Bexiga Urinária/cirurgia , Bexiga Urinaria Neurogênica/etiologia , Procedimentos Cirúrgicos Urológicos/métodos , Procedimentos Cirúrgicos Urológicos/estatística & dados numéricos
9.
Clin Endocrinol (Oxf) ; 90(2): 320-327, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30358895

RESUMO

BACKGROUND: Graves' disease (GD) is an autoimmune thyroid disease (AITD) with a peak incidence between 30 and 50 years of age. Although children and adolescents may also develop the disease, the genetic background of paediatric-onset GD (POGD) remains largely unknown. Here, we looked for similarities and differences in the genetic risk factors for POGD and adult-onset GD (AOGD) as well as for variants associated with age of GD onset. MATERIALS AND METHODS: A total of 1267 GD patients and 1054 healthy controls were included in the study. Allele frequencies of 40 established and suggested GD/AITD genetic risk variants (39 SNPs and HLA-DRB1*03) were compared between POGD (N = 179), AOGD (N = 1088) and healthy controls. Subsequently, multiple linear regression was used to explore the relationship between age of GD onset and genotype for each locus. RESULTS: We identified six POGD risk loci, all of them were also strongly associated with AOGD. Although for some of the analysed variants, including HCP5 (rs3094228), PRICKLE1 (rs4768412) and SCGB3A2 (rs1368408), allele frequencies differed nominally between POGD and AOGD patients, these differences were not significant after applying multiple testing correction (Pcor  = 0.05/40 = 1.25 × 10-3 ). Regression analysis showed that patients with higher number of HCP5 risk alleles tend to have a significantly earlier onset of GD (P = 6.9 × 10-5 ). CONCLUSIONS: The results of our study revealed that POGD and AOGD share multiple common genetic risk variants. Moreover, we demonstrated for the first time that HCP5 polymorphism is associated with an earlier age of GD onset in a dose-dependent manner.


Assuntos
Idade de Início , Predisposição Genética para Doença , Doença de Graves/genética , Adulto , Estudos de Casos e Controles , Criança , Frequência do Gene , Humanos , Fatores de Risco
10.
Pediatr Nephrol ; 34(7): 1277-1282, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30826869

RESUMO

BACKGROUND: Spina bifida (SB) patients are at increased risk for hydronephrosis, bladder storage and emptying problems, and renal failure that may require multiple bladder surgeries. METHODS: We retrospectively reviewed patients born with SB 2005-2009, presenting to our institution within 1 year of birth. Outcomes at 8-11 years old included final renal/bladder ultrasound (RBUS) results, clean intermittent catheterization (CIC) use, anticholinergic use, surgical interventions, and final renal function. We excluded those without follow-up past age 8 and/or no RBUS or fluoroscopic urodynamic images (FUI) within the first year of life. Imaging was independently reviewed by four pediatric urologists blinded to radiologists' interpretation and initial findings compared with final outcomes. RESULTS: Of 98 children, 62 met inclusion criteria (48% male, 76% shunted). Median age at last follow-up was 9.6 years. Upon initial imaging, 74% had hydronephrosis (≥ SFU grade 1), decreasing to 5% at 10 years (p < 0.0001). Initially, 9% had ≥ SFU grade 3 hydronephrosis, decreasing to 2% (p = 0.13). CIC and anticholinergic use increased from 61% and 37% to 87% and 86%, respectively (p = 0.001 and p < 0.0001, respectively). With follow-up, 55% had surgical intervention and 23% had an augmentation. Of children with a serum creatinine/cystatin-C at 8-11 years old, one had confirmed chronic kidney disease (stage 2). CONCLUSIONS: Despite initial high incidence of hydronephrosis, this was low grade and resolved in the first decade of life. Additionally, the 8-11-year incidence of kidney disease and upper tract changes was low due to aggressive medical management.


Assuntos
Hidronefrose/diagnóstico por imagem , Hidronefrose/terapia , Disrafismo Espinal/complicações , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/cirurgia , Criança , Pré-Escolar , Antagonistas Colinérgicos/uso terapêutico , Feminino , Fluoroscopia , Seguimentos , Humanos , Hidronefrose/etiologia , Lactente , Recém-Nascido , Cateterismo Uretral Intermitente , Masculino , Insuficiência Renal Crônica/etiologia , Estudos Retrospectivos , Ultrassonografia , Bexiga Urinária/anormalidades , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/cirurgia , Anormalidades Urogenitais/etiologia , Refluxo Vesicoureteral/etiologia
11.
Rheumatol Int ; 39(2): 327-336, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30374689

RESUMO

Rheumatoid arthritis (RA) is a common systemic autoimmune disease characterized by increased cardiovascular morbidity. Several previous studies assessed associations between common atherosclerotic genetic risk factors and subclinical atherosclerosis (SA) in RA patients, yet most of them gave negative results. We undertook a cross-sectional study to evaluate the association between previously reported SNPs and subclinical atherosclerosis in a cohort of Polish RA patients. 29 SNPs associated with atherosclerosis in general population were genotyped in 289 RA patients: 116 patients with SA (increased carotid intima-media thickness and/or presence of carotid plaque) and 173 patients without SA. To assess the cumulative effect of SNPs we calculated 3 weighted genetic risk scores: GRSIMT, GRSCP and GRSCAD, comprising intima-media thickness-associated SNPs, carotid plaque-associated SNPs and coronary artery disease-associated SNPs, respectively. None of the SNPs showed a significant association with SA. However, we found an association between SA and GRSIMT. Interestingly, this association was limited to patients with short disease duration (P = 0.00004 vs. P > 0.5, for comparison of GRSIMT among patients within the 1st quartile of disease duration vs. others, respectively). Patients within the 1st quartile of disease duration were more frequently disease modifying anti-rheumatic drugs (DMARDs)-naïve and less frequently treated with biologics. Our study suggests that in patients with early RA subclinical atherosclerosis may be driven by similar genetic factors as in general population, while in long-lasting disease, the role common genetic risk factors may decrease. Possibly, this effect may be due to the influence of DMARDs.


Assuntos
Artrite Reumatoide/complicações , Aterosclerose/genética , Adulto , Artrite Reumatoide/tratamento farmacológico , Aterosclerose/etiologia , Feminino , Predisposição Genética para Doença , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Fatores de Tempo
12.
Pediatr Int ; 61(12): 1232-1238, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31487089

RESUMO

BACKGROUND: Spina bifida (SB) is the second-most common birth defect in Japan. In recent years, health-related quality of life measurements have been used to assess the psychosocial status of children with SB. The Quality of Life Assessment of Spina Bifida in Teenagers (QUALAS-T) is a self-reported questionnaire for subjects aged 13-17 years with SB. It focuses particularly on factors related to independence, bladder and bowel. The purpose of this study was to develop and validate a Japanese version of QUALAS-T (QUALAS-T-J). METHODS: Three urologists specialized in SB, two nurses, one statistician, and the author of the original version developed the QUALAS-T-J. Subjects with SB completed the QUALAS-T-J and the Japanese version of KIDSCREEN-27 (J-KIDSCREEN-27) independently from their parents. RESULTS: A pilot study involving seven adolescents with SB and confirmed face and content validity. Sixty-nine adolescents with SB participated in the main survey. The intraclass correlation coefficient in the retest was 0.77, and Cronbach's alpha in each domain was 0.83 and 0.79. Validity was verified on factor analysis and convergent/divergent validity. Five items converged in the one domain, Bladder and Bowel. The remaining five items converged in the concept of Family and Independence. The correlation between each domain of the QUALAS-T-J and J-KIDSCREEN-27 was low-moderate. CONCLUSION: The reliability and validity of the QUALAS-T-J were verified in Japanese adolescents with SB. The QUALAS-T-J would be a useful tool for communication between adolescents with SB and medical staff.


Assuntos
Qualidade de Vida , Disrafismo Espinal/psicologia , Inquéritos e Questionários/normas , Adolescente , Incontinência Fecal/epidemiologia , Feminino , Humanos , Japão , Masculino , Projetos Piloto , Reprodutibilidade dos Testes , Autorrelato/normas , Perfil de Impacto da Doença , Disrafismo Espinal/epidemiologia , Incontinência Urinária/epidemiologia
13.
J Sports Sci ; 37(14): 1655-1662, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30836829

RESUMO

Genetic factors are known to influence sport performance. The aim of the present study was to assess genetic variants in genes coding for proteins potentially modulating activity of brain emotion centres in a group of 621 elite athletes (212 endurance, 183 power and 226 combat athletes) and 672 sedentary controls. Ten statistically significant variants were identified in genes encoding elements of serotoninergic, catecholaminergic and hypothalamic-pituitary-adrenal systems in different sport groups. Of those the rs860573 variant in the FEV gene coding for transcription factor exclusively expressed in neurons of the central serotonin system is the only one whose frequency significantly differentiates all the groups of athletes studied, regardless of discipline, from the controls (p = 0.000026). Our results support the hypothesis that genetic variants potentially affecting mental processes and emotions, particularly in the serotonergic pathway, also influence the predispositions to athletic performance.


Assuntos
Desempenho Atlético/fisiologia , Emoções/fisiologia , Polimorfismo de Nucleotídeo Único , Receptores de Serotonina/genética , Adulto , Ansiedade/genética , Proteínas de Ligação a DNA/genética , Feminino , Genótipo , Humanos , Sistema Hipotálamo-Hipofisário/fisiologia , Masculino , Proteínas Nucleares/genética , Sistema Hipófise-Suprarrenal/fisiologia , Polônia , Receptor 5-HT1B de Serotonina/genética , Receptor 5-HT2C de Serotonina/genética , Receptores de Catecolaminas/genética , Estresse Psicológico/genética , Fatores de Transcrição , Adulto Jovem
14.
J Urol ; 197(3 Pt 2): 885-891, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28131501

RESUMO

PURPOSE: We previously reported that the self-reported amount of urinary incontinence is the main predictor of lower health related quality of life in adults with spina bifida. In this study we sought to determine the impact of fecal incontinence on health related quality of life after correcting for urinary incontinence. MATERIALS AND METHODS: An international sample of adults with spina bifida was surveyed online in 2013 to 2014. We evaluated fecal incontinence in the last 4 weeks using clean intervals (less than 1 day, 1 to 6 days, 1 week or longer, or no fecal incontinence), amount (a lot, medium, a little or none), number of protective undergarments worn daily and similar variables for urinary incontinence. Validated instruments were used, including QUALAS-A (Quality of Life Assessment in Spina bifida for Adults) for spina bifida specific health related quality of life and the generic WHOQOL-BREF (WHO Quality of Life, short form). Linear regression was used (all outcomes 0 to 100). RESULTS: Mean age of the 518 participants was 32 years and 33.0% were male. Overall, 55.4% of participants had fecal incontinence, 76.3% had urinary incontinence and 46.9% had both types. On multivariate analysis fecal incontinence was associated with lower bowel and bladder health related quality of life across all amounts (-16.2 for a lot, -20.9 for medium and -18.5 for little vs none, p <0.0001) but clean intervals were not significant (-4.0 to -3.4, p ≥0.18). Conversely, health related quality of life was lower with increased amounts of urinary incontinence (-27.6 for a lot, -18.3 for medium and -13.4 for little vs none, p <0.0001). Dry intervals less than 4 hours were not associated with lower health related quality of life (-4.6, p = 0.053) but the use of undergarments was associated with it (-7.5 to -7.4, p ≤0.01). Fecal incontinence and urinary incontinence were associated with lower WHOQOL-BREF scores. CONCLUSIONS: Fecal incontinence and urinary incontinence are independent predictors of lower health related quality of life in adults with spina bifida. Health related quality of life is lower with an increasing amount of urinary incontinence. Fecal incontinence has a more uniform impact on health related quality of life regardless of frequency or amount.


Assuntos
Incontinência Fecal/etiologia , Qualidade de Vida , Disrafismo Espinal/complicações , Incontinência Urinária/etiologia , Adulto , Feminino , Humanos , Masculino , Autorrelato
15.
J Hum Genet ; 62(3): 373-377, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27829681

RESUMO

The role of TPO gene polymorphism in the susceptibility to Graves' disease (GD) remains unclear. However, single-nucleotide polymorphisms (SNPs) near TPO have been recently associated with serum levels of thyroid peroxidase (TPO) antibody in two independent genome-wide association studies. Moreover, we have observed a strong association between the rs11675434 SNP located near TPO and the presence of clinically evident Graves' ophthalmopathy (GO). The aim of the current study was to reevaluate and dissect this association in an extended group of 1231 well-characterized patients with GD (1043 adults and 188 children) and 1130 healthy controls from the Polish Caucasian population, considering possible gender-dependent and age-of-onset-specific effects of the studied SNP. We found that the T allele of rs11675434 was significantly more frequent in GD patients with than without GO (odds ratio (OR)=1.26, 95% confidence interval (CI)=1.05-1.51, P=0.012), which was consistent with our previous findings. Further analyses performed in subgroups of patients showed that the association with GO was significant in adult patients with age of GD onset ⩾45 years (OR=1.34, 95% CI=1.03-1.75, P=0.031), but not in children and adolescents or adult patients with earlier onset of the disease (OR=1.72, 95% CI=0.77-3.84, P=0.18 and OR=1.05, 95% CI=0.79-1.40, P=0.75, respectively). Moreover, a strong association with GO was present in males (OR=2.06, 95% CI=1.40-3.02, P=0.0002), whereas it was absent in females (OR=1.10, 95% CI=0.90-1.35, P=0.35). The results of our study further suggest that rs11675434 SNP located near TPO is associated with the development of GO, especially in males and patients with later age of GD onset.


Assuntos
Predisposição Genética para Doença , Oftalmopatia de Graves/genética , Iodeto Peroxidase/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idade de Início , Alelos , Autoanticorpos/sangue , Criança , Feminino , Expressão Gênica , Frequência do Gene , Estudo de Associação Genômica Ampla , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/imunologia , Oftalmopatia de Graves/patologia , Humanos , Iodeto Peroxidase/imunologia , Masculino , Polônia , Fatores Sexuais
17.
J Urol ; 195(4 Pt 2): 1263-9, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26926556

RESUMO

PURPOSE: The effects of urinary incontinence on health related quality of life in adults with spina bifida is poorly understood. We determined which quantification method best captures bother with urinary incontinence. We also quantified the impact of urinary incontinence on health related quality of life. MATERIALS AND METHODS: We surveyed an international sample of adults with spina bifida online from January 2013 through September 2014. We evaluated dry intervals (4 hours or greater considered social continence), quantity of urinary incontinence (a lot, medium, little, none) and number of undergarments worn daily (pads, pull-ups or disposable underwear). A 5-point Likert bother scale was used. We applied validated instruments, including QUALAS-A (Quality of Life Assessment in Spina Bifida for Adults) and the generic WHOQOL-BREF (WHO Quality of Life). We analyzed data using linear regression with a range of 0 to 100 for all outcomes. RESULTS: Mean age of the 461 participants was 32 years and 31.0% were male. Overall 26.5% and 51.8% of participants were dry for less than 4 hours and 4 hours or greater, respectively, while 21.7% were always dry. On multivariate analysis worse bother was predominantly determined by the quantity of urinary incontinence (a lot 32.9 and medium 16.2 vs little, p <0.0001) rather than dry intervals less than 4 hours (7.21, p = 0.08) or number of undergarments (-2.2 to 4.2, p ≥0.43). Bladder and bowel health related quality of life was lower with higher quantities of urinary incontinence (a lot -31.2, medium -23.0 and little -17.2 vs none, p <0.0001) but not for dry intervals less than 4 hours (-4.1, p = 0.14). Use of undergarments regardless of number was associated with lower health related quality of life (-10.2 to -15.4, p ≤0.001). Quantity of urinary incontinence was the main predictor of lower WHOQOL-BREF scores. CONCLUSIONS: We report that adults with spina bifida and urinary incontinence have lower health related quality of life than those who are dry. Self-reported quantity of urinary incontinence was the best predictor of bother and health related quality of life.


Assuntos
Qualidade de Vida , Disrafismo Espinal/complicações , Incontinência Urinária/etiologia , Incontinência Urinária/fisiopatologia , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Fatores de Tempo , Incontinência Urinária/diagnóstico
19.
J Urol ; 193(6): 2079-84, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25562446

RESUMO

PURPOSE: We assessed long-term renal function, morbidities and mortality in 50 patients who had undergone primary gastrocystoplasty at our institution. MATERIALS AND METHODS: We retrospectively reviewed patients 21 years or younger who had undergone primary gastrocystoplasty between 1984 and 2004. Patients who underwent secondary gastrocystoplasty or primary composite augmentation or had cloacal exstrophy were excluded. Primary outcome was progression to end-stage renal disease. Secondary outcomes included mortality, bladder malignancy, hematuria-dysuria syndrome, electrolyte abnormalities and surgical revisions. RESULTS: Of 50 patients who had undergone gastrocystoplasty 35 met inclusion criteria. Median age was 9.4 years and 60% of the patients were male. Median followup was 19 years (IQR 11 to 25). Of the 35 patients 15 (43%) had normal preoperative estimated glomerular filtration rate and 5 (14%) had stage 2, 10 (29%) stage 3 and 5 (14%) stage 4 chronic kidney disease. Five of the 15 patients with stage 3 or 4 chronic kidney disease improved to normal estimated glomerular filtration rate, 1 remained with stage 3 disease and 9 progressed to end-stage renal disease. In 1 patient with normal estimated glomerular filtration rate end-stage renal disease developed following an episode of septic shock due to osteomyelitis. Seven patients in the cohort (20%) died, with 1 each dying of ventriculoperitoneal shunt infection, pneumonia, end-stage renal disease, complications of pregnancy and unknown cause, and 2 patients dying of septic shock due to urinary tract infection. There were no bladder malignancies. Hematuria-dysuria syndrome developed in 9 patients (24%). Eight patients (23%) underwent surgical revision. CONCLUSIONS: The majority of patients had preserved or improved renal function after gastrocystoplasty. There were no deaths attributable to gastric augmentation and no bladder malignancies. Approximately a fourth of patients required surgical revision.


Assuntos
Rim/fisiologia , Estômago/transplante , Doenças da Bexiga Urinária/cirurgia , Bexiga Urinária/cirurgia , Adolescente , Criança , Feminino , Humanos , Testes de Função Renal , Masculino , Complicações Pós-Operatórias/epidemiologia , Insuficiência Renal/epidemiologia , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
20.
J Urol ; 193(6): 2073-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25562445

RESUMO

PURPOSE: We sought to evaluate health related benefit in children undergoing surgical reconstruction for urinary and fecal incontinence from a parental perspective. MATERIALS AND METHODS: A health related benefit instrument was mailed to the parents or guardians of 300 consecutive patients who had undergone reconstruction for urinary and/or fecal incontinence at our institution between 1997 and 2011. We assessed parent reported health related benefit using the validated Glasgow Children's Benefit Inventory and satisfaction with 6 supplemental questions. One-sample t-tests as well as exploratory univariate and multivariate linear regressions were performed for statistical analysis. RESULTS: Response rate was 40.0% at a mean of 5.5 years (range 0.6 to 13.8) after reconstruction. Spina bifida was the most common primary diagnosis (48 patients, 56.5%). Mean total Glasgow Children's Benefit Inventory score and subscores for each domain were positive, indicating an improved health related benefit after reconstruction (all p <0.0001). Certain patients, possibly based on diagnosis and gender, may particularly benefit from reconstruction (p ≤0.04). Parents believed that the bladder augmentation and/or urinary continent catheterizable channel most changed the life of their child but that achievement of stool continence was most important to themselves. Only 17 families (16.2%) required more than 1 month to become comfortable with catheterizations, and 69 patients (68.8%) required less care or no assistance with daily activities after reconstruction. Only 2 parents (1.9%) would be unwilling to consent to the procedure again. CONCLUSIONS: We observed moderate parental satisfaction and parent reported improvement in health related quality of life for children undergoing surgical reconstruction for urinary and fecal incontinence.


Assuntos
Incontinência Fecal/cirurgia , Pais , Satisfação do Paciente , Qualidade de Vida , Incontinência Urinária/cirurgia , Adolescente , Criança , Pré-Escolar , Incontinência Fecal/etiologia , Feminino , Humanos , Lactente , Masculino , Defeitos do Tubo Neural/complicações , Estudos Retrospectivos , Inquéritos e Questionários , Incontinência Urinária/etiologia , Adulto Jovem
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