AIM: To assess the performance of the Finnish Diabetes Risk Score(FINDRISC) questionnaire for detecting and predicting type 2 diabetes mellitus(DM2) in a Colombian population.METHODS: This is a longitudinal observatio...AIM: To assess the performance of the Finnish Diabetes Risk Score(FINDRISC) questionnaire for detecting and predicting type 2 diabetes mellitus(DM2) in a Colombian population.METHODS: This is a longitudinal observational study conducted in Floridablanca, Colombia. Adult subjects(age ≥ 35 years) without known diabetes, were included. A modified version of FINDRISC was completed, and the glycemia values from all the subjects were collected from the hospital's database. Firstly, a cross-sectional analysis was performed and then, the subsample of prediabetic participants was followed for diabetes incidence. RESULTS: A total of 772 subjects were suitable for the study. The overall prevalence of undiagnosed DM2 was 2.59%, and the incidence of DM2 among the prediabetic participants was 7.5 per 100 person-years after a total of 265257 person-years follow-up. The FINDRISC at baseline was significantly associated with undiagnosed and incident DM2. The area under receiver operating characteristics curve of the FINDRISC score for detecting undiagnosed DM2 in both men and women was 0.7477 and 0.7175, respectively; and for predicting the incidence of DM2 among prediabetics was 71.99% in men and 67.74% in women. CONCLUSION: The FINDRISC questionnaire is a useful screening tool to identify cross-sectionally unknown DM2 and to predict the incidence of DM2 among prediabetics in the Colombian population.展开更多
男性患儿,出生5+d,因"发现尿蛋白明显升高5+d"入院.患儿系36+4周早产儿,产时伴羊水Ⅲ°胎粪污染、胎盘增大,生后即发现蛋白尿、低蛋白血症、进行性加重的水肿;全外显子基因检测提示患儿存在NPHS1的2个杂合突变位点,c.3325...男性患儿,出生5+d,因"发现尿蛋白明显升高5+d"入院.患儿系36+4周早产儿,产时伴羊水Ⅲ°胎粪污染、胎盘增大,生后即发现蛋白尿、低蛋白血症、进行性加重的水肿;全外显子基因检测提示患儿存在NPHS1的2个杂合突变位点,c.3325C>T(p.Arg1109*)和c.2479C>T(p.Arg827*)复杂杂合突变,诊断为芬兰型先天性肾病综合征(congenital nephrotic syndrome of the Finnish type,CNF),其中c.2479C>T(p.Arg827*)基因突变位点国内未见报道.本次报道的c.2479C>T突变基因对国内CNF基因突变谱进行了扩充,原因不明的先天性肾病综合征(congenital nephrotic syndrome,CNS)建议早期行基因检测,CNS的早期诊断对预后评估、遗传咨询及临床管理具有重要意义.展开更多
Congenital nephrotic syndrome (CNS) is defined as the presence of proteinuria > 50 mg/kg/24h associated with a protein concentration g/L or albuminemia 30 g/L in an infant less than 3 months old. The CNS is rare, o...Congenital nephrotic syndrome (CNS) is defined as the presence of proteinuria > 50 mg/kg/24h associated with a protein concentration g/L or albuminemia 30 g/L in an infant less than 3 months old. The CNS is rare, of various clinical forms dominated by the Finnish type caused by a mutation of the NPHS1 gene located on chromosome 19. The edematous syndrome is the most common mode of discovery. We report a case discovered in an infant of 50 days admitted for ascites of great abundance. The aim of this study was to describe the main epidemiological, diagnostic, therapeutic and evolutionary aspects of this syndrome. Improving the prognosis of this condition requires advocacy with the political authorities of Cote d’Ivoire to provide Teaching Hospital for the resources needed to perform kidney transplantation.展开更多
基金Supported by The Ophthalmological Foundation of Santander-FOSCAL
文摘AIM: To assess the performance of the Finnish Diabetes Risk Score(FINDRISC) questionnaire for detecting and predicting type 2 diabetes mellitus(DM2) in a Colombian population.METHODS: This is a longitudinal observational study conducted in Floridablanca, Colombia. Adult subjects(age ≥ 35 years) without known diabetes, were included. A modified version of FINDRISC was completed, and the glycemia values from all the subjects were collected from the hospital's database. Firstly, a cross-sectional analysis was performed and then, the subsample of prediabetic participants was followed for diabetes incidence. RESULTS: A total of 772 subjects were suitable for the study. The overall prevalence of undiagnosed DM2 was 2.59%, and the incidence of DM2 among the prediabetic participants was 7.5 per 100 person-years after a total of 265257 person-years follow-up. The FINDRISC at baseline was significantly associated with undiagnosed and incident DM2. The area under receiver operating characteristics curve of the FINDRISC score for detecting undiagnosed DM2 in both men and women was 0.7477 and 0.7175, respectively; and for predicting the incidence of DM2 among prediabetics was 71.99% in men and 67.74% in women. CONCLUSION: The FINDRISC questionnaire is a useful screening tool to identify cross-sectionally unknown DM2 and to predict the incidence of DM2 among prediabetics in the Colombian population.
文摘男性患儿,出生5+d,因"发现尿蛋白明显升高5+d"入院.患儿系36+4周早产儿,产时伴羊水Ⅲ°胎粪污染、胎盘增大,生后即发现蛋白尿、低蛋白血症、进行性加重的水肿;全外显子基因检测提示患儿存在NPHS1的2个杂合突变位点,c.3325C>T(p.Arg1109*)和c.2479C>T(p.Arg827*)复杂杂合突变,诊断为芬兰型先天性肾病综合征(congenital nephrotic syndrome of the Finnish type,CNF),其中c.2479C>T(p.Arg827*)基因突变位点国内未见报道.本次报道的c.2479C>T突变基因对国内CNF基因突变谱进行了扩充,原因不明的先天性肾病综合征(congenital nephrotic syndrome,CNS)建议早期行基因检测,CNS的早期诊断对预后评估、遗传咨询及临床管理具有重要意义.
文摘Congenital nephrotic syndrome (CNS) is defined as the presence of proteinuria > 50 mg/kg/24h associated with a protein concentration g/L or albuminemia 30 g/L in an infant less than 3 months old. The CNS is rare, of various clinical forms dominated by the Finnish type caused by a mutation of the NPHS1 gene located on chromosome 19. The edematous syndrome is the most common mode of discovery. We report a case discovered in an infant of 50 days admitted for ascites of great abundance. The aim of this study was to describe the main epidemiological, diagnostic, therapeutic and evolutionary aspects of this syndrome. Improving the prognosis of this condition requires advocacy with the political authorities of Cote d’Ivoire to provide Teaching Hospital for the resources needed to perform kidney transplantation.
