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1.
BMC Nephrol ; 21(1): 280, 2020 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-32677901

RESUMO

BACKGROUND: Serum creatinine (Cr) and cystatin C (CysC) can both be used to estimate glomerular filtration rate (eGFRCr and eGFRCysC). However, certain conditions may cause discrepancies between eGFR trends from Cr and CysC, and these remain undetermined in patients with chronic kidney disease (CKD). METHODS: A total of 1069 patients from the Korean CKD cohort (KNOW-CKD), which enrolls pre-dialytic CKD patients, whose Cr and CysC had been followed for more than 4 years were included in the sample. We performed trajectory analysis using latent class mixed modeling and identified members of the discrepancy group when patient trends between eGFRCr and eGFRCysC differed. Multivariate logistic analyses with Firth's penalized likelihood regression models were performed to identify conditions related to the discrepancy. RESULTS: Trajectory patterns of eGFRCr were classified into three groups: two groups with stable eGFRCr (stable with high eGFRCr and stable with low eGFRCr) and one group with decreasing eGFRCr. Trajectory analysis of eGFRCysC also showed similar patterns, comprising two groups with stable eGFRCysC and one group with decreasing eGFRCysC. Patients in the discrepancy group (decreasing eGFRCr but stable & low eGFRCysC; n = 55) were younger and had greater proteinuria values than the agreement group (stable & low eGFRCr and eGFRCysC; n = 706), differences that remained consistent irrespective of the measurement period (4 or 5 years). CONCLUSIONS: In the present study, we identify conditions related to discrepant trends of eGFRCr and eGFRCysC. Clinicians should remain aware of such potential discrepancies when tracing both Cr and CysC.

2.
PLoS One ; 15(6): e0235077, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32569271

RESUMO

Proteinuria and hyperphosphatemia are risk factors for cardiovascular disease in patients with chronic kidney disease (CKD). Although the interaction between proteinuria and the serum phosphate level is well established, the mechanistic link between the two, particularly the extent to which this interaction is mediated by phosphate-regulating factors, remains poorly understood. In this study, we examined the association between proteinuria and the serum phosphate level, as well as potential mediators, including circulating fibroblast growth factor (FGF23)/klotho, the 24-h urinary phosphate excretion rate to glomerular filtration rate ratio (EP/GFR), and the 24-h tubular phosphate reabsorption rate to GFR ratio (TRP/GFR). The analyses were performed with data from 1793 patients in whom 24-h urine protein and phosphate, serum phosphate, FGF23, and klotho levels were measured simultaneously, obtained from the KoreaN cohort study for Outcome in patients With Chronic Kidney Disease (KNOW-CKD). Multivariable linear regression and mediation analyses were performed. Total, direct, and indirect effects were also estimated. Patients with high serum phosphate levels were found to be more likely to exhibit greater proteinuria, higher FGF23 levels, and lower klotho levels. The 24-h EP/GFR increased and the 24-h TRP/GFR decreased with increasing proteinuria and CKD progression. Simple mediation analyses showed that 15.4% and 67.9% of the relationship between proteinuria and the serum phosphate level were mediated by the FGF23/klotho ratio and 24-h EP/GFR, respectively. Together, these two factors accounted for 73.1% of the relationship between serum markers. These findings suggest that proteinuria increases the 24-h EP/GFR via the FGF23/klotho axis as a compensatory mechanism for the increased phosphate burden well before the reduction in renal function is first seen.


Assuntos
Fosfatos/sangue , Proteinúria/sangue , Insuficiência Renal Crônica/sangue , Estudos de Coortes , Feminino , Fatores de Crescimento de Fibroblastos/sangue , Taxa de Filtração Glomerular , Glucuronidase/sangue , Humanos , Túbulos Renais/metabolismo , Túbulos Renais/patologia , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Insuficiência Renal Crônica/fisiopatologia , República da Coreia , Resultado do Tratamento
3.
Kidney Res Clin Pract ; 39(1): 93-102, 2020 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-32182639

RESUMO

Background: Higher statin intensity is associated with a lower risk of mortality in patients with cardiovascular disease. However, little is known about the relationship between statin intensity and chronic kidney disease (CKD) progression. Methods: We studied whether statin intensity affects kidney function decline in 1,073 patients from the Korean Cohort Study for Outcome in Patients With Chronic Kidney Disease. The participants were classified based on statin intensity as low, moderate, and high. The study endpoint was CKD progression (composite of doubling of serum creatinine, ≥ 50% decrease in estimated glomerular filtration rate [eGFR] from baseline, or end-stage renal disease). Results: The mean age was 56.0 ± 11.4 years, and 665 (62.0%) participants were male. The mean eGFR was 51.7 ± 26.7 mL/min/1.73 m2; there were no differences in baseline eGFR among statin intensity groups. During the median follow-up of 39.9 (25.4-61.6) months, 255 (23.8%) patients reached the study endpoint. In multivariable Cox model after adjustment of confounders, the hazard ratios (95% confidence interval) for adverse kidney outcome were 0.97 (0.72-1.30) and 1.15 (0.60-2.20) in moderate and high statin intensity groups, respectively, compared with the low intensity group. In addition, no significant association was observed in subgroups stratified by age, sex, eGFR, and atherosclerotic cardiovascular disease risk scores. Conclusion: We did not observe any significant association between intensity of statin therapy and progression of CKD. Long-term kidney outcomes may not be affected by statin intensity.

4.
Nephrol Dial Transplant ; 35(3): 438-446, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30615179

RESUMO

BACKGROUND: Recent experimental study reported that proteinuria increases serum phosphate by decreasing biologic activity of fibroblast growth factor 23 (FGF-23). We examined this relationship in a large chronic kidney disease (CKD) cohort and evaluated the combined effect of proteinuria, FGF-23 activity and serum phosphate on CKD progression. METHODS: The activity of FGF-23, measured by the fractional excretion of phosphate (FEP)/FGF-23 ratio, was compared according to the degree of proteinuria in 1909 patients with CKD. Primary outcome was CKD progression defined as ≥50% decline of estimated glomerular filtration rate, doubling of serum creatinine and start of dialysis. RESULTS: There was a negative relationship between 24-h urine protein (24-h UP) and FEP/FGF-23 ratio (γ -0.07; P = 0.005). In addition, after matching variables associated with serum phosphate, patients with more proteinuria had higher serum phosphate (P < 0.001) and FGF-23 (P = 0.012), and lower FEP/FGF-23 ratio (P = 0.007) compared with those with less proteinuria. In the matched cohort, low FEP/FGF-23 ratio was an independent risk factor for CKD progression (hazard ratio 0.87 per 1 log increase; 95% confidence interval 0.79-0.95; P = 0.002), and there was significant interaction between 24-h UP and FEP/FGF-23 ratio (P = 0.039). Furthermore, 24-h UP and serum phosphate also had a significant interaction on CKD progression (P < 0.001). CONCLUSIONS: Proteinuria is associated with decreased biologic activity of FGF-23 and increased serum phosphate. Furthermore, diminished activity of FGF23 is an independent risk factor for renal progression in proteinuric CKD patients.


Assuntos
Fatores de Crescimento de Fibroblastos/metabolismo , Fosfatos/sangue , Proteinúria/complicações , Insuficiência Renal Crônica/patologia , Adulto , Idoso , Progressão da Doença , Feminino , Taxa de Filtração Glomerular , Humanos , Masculino , Pessoa de Meia-Idade , Fosfatos/efeitos adversos , Estudos Prospectivos , Insuficiência Renal Crônica/etiologia , Insuficiência Renal Crônica/metabolismo , República da Coreia , Fatores de Risco , Adulto Jovem
5.
EBioMedicine ; 48: 203-211, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31629678

RESUMO

BACKGROUND: We previously conducted a systematic field synopsis of 1059 breast cancer candidate gene studies and investigated 279 genetic variants, 51 of which showed associations. The major limitation of this work was the small sample size, even pooling data from all 1059 studies. Thereafter, genome-wide association studies (GWAS) have accumulated data for hundreds of thousands of subjects. It's necessary to re-evaluate these variants in large GWAS datasets. METHODS: Of these 279 variants, data were obtained for 228 from GWAS conducted within the Asian Breast Cancer Consortium (24,206 cases and 24,775 controls) and the Breast Cancer Association Consortium (122,977 cases and 105,974 controls of European ancestry). Meta-analyses were conducted to combine the results from these two datasets. FINDINGS: Of those 228 variants, an association was observed for 12 variants in 10 genes at a Bonferroni-corrected threshold of P < 2·19 × 10-4. The associations for four variants reached P < 5 × 10-8 and have been reported by previous GWAS, including rs6435074 and rs6723097 (CASP8), rs17879961 (CHEK2) and rs2853669 (TERT). The remaining eight variants were rs676387 (HSD17B1), rs762551 (CYP1A2), rs1045485 (CASP8), rs9340799 (ESR1), rs7931342 (CHR11), rs1050450 (GPX1), rs13010627 (CASP10) and rs9344 (CCND1). Further investigating these 10 genes identified associations for two additional variants at P < 5 × 10-8, including rs4793090 (near HSD17B1), and rs9210 (near CYP1A2), which have not been identified by previous GWAS. INTERPRETATION: Though most candidate gene variants were not associated with breast cancer risk, we found 14 variants showing an association. Our findings warrant further functional investigation of these variants. FUND: National Institutes of Health.


Assuntos
Grupo com Ancestrais do Continente Asiático , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Grupo com Ancestrais do Continente Europeu , Predisposição Genética para Doença , Variação Genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Caspase 8 , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Genótipo , Humanos , Razão de Chances , Polimorfismo de Nucleotídeo Único , Vigilância da População , Risco
6.
Diabetes Metab J ; 43(5): 615-626, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31237129

RESUMO

BACKGROUND: The association between change in alcohol intake and metabolic syndrome is unclear. METHODS: This retrospective cohort consisted of 41,368 males and females from the Health Examinees-GEM study. Participants were divided into non-drinkers (0.0 g/day), light drinkers (male: 0.1 to 19.9 g/day; female: 0.1 to 9.9 g/day), moderate drinkers (male: 20.0 to 39.9 g/day; female: 10.0 to 19.9 g/day), and heavy drinkers (male: ≥40.0 g/day; female: ≥20.0 g/day) for each of the initial and follow-up health examinations. Logistic regression analysis was used to determine the adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for developing metabolic syndrome according to the change in alcohol consumption between the initial and follow-up health examinations. Adjusted mean values for the change in waist circumference, fasting serum glucose (FSG), blood pressure, triglycerides, and high density lipoprotein cholesterol (HDL-C) levels were determined according to the change in alcohol consumption by linear regression analysis. RESULTS: Compared to persistent light drinkers, those who increased alcohol intake to heavy levels had elevated risk of metabolic syndrome (aOR, 1.45; 95% CI, 1.09 to 1.92). In contrast, heavy drinkers who became light drinkers had reduced risk of metabolic syndrome (aOR, 0.61; 95% CI, 0.44 to 0.84) compared to persistent heavy drinkers. Increased alcohol consumption was associated with elevated adjusted mean values for waist circumference, FSG, blood pressure, triglycerides, and HDL-C levels (all P<0.05). Reduction in alcohol intake was associated with decreased waist circumference, FSG, blood pressure, triglycerides, and HDL-C levels among initial heavy drinkers (all P<0.05). CONCLUSION: Heavy drinkers who reduce alcohol consumption could benefit from reduced risk of metabolic syndrome.

7.
Sci Rep ; 9(1): 3103, 2019 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-30816310

RESUMO

We aimed to examine the effect of weight change attributable to cessation of cigarette smoking on newly diagnosed metabolic syndrome (MetS). We prospectively followed 5,809 men aged between 40 to 69 years without MetS at baseline in the Health Examinees-Gem (HEXA-G) study up to 4 years. The participants were grouped into continual smokers, quitters with weight gain, quitters without weight change, quitters with weight loss, and never smokers. We constructed multivariable logistic regression models adjusted for sociodemographic factors, health status, and health conditions to estimate the odds of newly diagnosed MetS. During the follow-up, there were 609 cases of newly diagnosed MetS in 5,809 men of the HEXA-G study. After adjustment for potential confounders, the odd ratios (OR) and 95% confidence intervals (95% CI) for MetS were 1.90 (95% CI: 1.43-2.52) in quitters with weight gain, 0.77 (95% CI: 0.60-1.00) in quitters without weight change, and 0.40 (95% CI: 0.28-0.57) in quitters with weight loss compared with continual smokers. Never smokers also had lower odds of MetS (OR = 0.54; 95% CI: 0.42-0.71) compared to continual smokers. Weight management program following smoking cessation may be necessary in clinical practice to reduce worsening of cardiometabolic risk factors related to post-cessation weight gain.


Assuntos
Síndrome Metabólica/epidemiologia , Abandono do Hábito de Fumar , Ganho de Peso , Perda de Peso , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , República da Coreia/epidemiologia , Fatores de Risco , Fumar/efeitos adversos
8.
Qual Life Res ; 28(4): 1075-1083, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30535570

RESUMO

PURPOSE: Obesity is linked to poor health-related quality of life (HRQOL) in the general population, but its role in chronic kidney disease (CKD) is uncertain. METHODS: We conducted a cross-sectional study that investigated 1880 participants from the KoreaN cohort study for Outcome in patients With CKD (KNOW-CKD) who underwent complete baseline laboratory tests, health questionnaires, and HRQOL. HRQOL was assessed by physical component summary (PCS) and mental component summary (MCS) of the SF-36 questionnaire. We used multivariable linear regression models to examine the relationship between Body Mass Index (BMI) and sex-specific waist circumference (WC) with HRQOL. RESULTS: Adults with higher BMI and greater WC showed lower PCS. After adjusting for age, sex, socioeconomic state, comorbidities, and laboratory findings, we found that WC, but not BMI, was associated with PCS. Greater WC quintiles were associated with lower PCS [WC-4th quintile (ß, - 2.63, 95% CI - 5.19 to - 0.06) and WC-5th quintile (ß, - 3.71, 95% CI - 6.28 to - 1.15)]. The association between WC and PCS was more pronounced in older adults, woman, patients with diabetes, cardiovascular disease, or lower eGFR. The relationship between BMI and WC with MCS was not significant. CONCLUSIONS: In adults with CKD, WC is a better indicator of poor physical HRQOL than BMI. The association between WC and physical HRQOL is modified by age, sex, eGFR, and comorbidities such as diabetes and cardiovascular disease.


Assuntos
Índice de Massa Corporal , Qualidade de Vida/psicologia , Insuficiência Renal Crônica/diagnóstico , Circunferência da Cintura/fisiologia , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Insuficiência Renal Crônica/patologia , Adulto Jovem
9.
Ann Rehabil Med ; 42(5): 690-701, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30404418

RESUMO

OBJECTIVE: To develop a simplified functional scale and classification system to evaluate the functional abilities of patients with Duchenne muscular dystrophy (DMD). METHODS: A Comprehensive Functional Scale for DMD (CFSD) was developed using the modified Delphi method. The accompanying Ambulatory Functional Classification System for DMD (AFCSD) was developed based on previously published classification systems. RESULTS: The CFSD consists of 21 items and 78 sub-items, assessing body structure and function, activities, and participation. Inter-rater intraclass correlation coefficient values were above 0.7 for 17 items. The overall limits of agreement between the two examiners ranged from -6.21 to 3.11. The Spearman correlation coefficient between the total score on the AFCSD and the Vignos Functional Scale was 0.833, and 0.714 between the total score of the AFCSD and the Brooke scale. Significant negative correlations existed between the total score for each functional level of the AFCSD and each functional grade of the Vignos and Brooke scales. The total scores of the CFSD varied significantly between the functional grades of the Vignos scale, and specific grades of the Brooke scale. For the AFCSD, total scores of the CFSD varied significantly between the functional levels. CONCLUSION: We have developed a new scale and the associated classification system, to assess the functional ability of children diagnosed with DMD. Preliminary evaluation of the psychometric properties of the functional scale and classification systems indicate sufficient reliability and concurrent validity.

10.
J Med Genet ; 55(12): 794-802, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30415210

RESUMO

BACKGROUND: BRCA1 and BRCA2 (BRCA1/2) variants classified ambiguously as variants of uncertain significance (VUS) are a major challenge for clinical genetic testing in breast cancer; their relevance to the cancer risk is unclear and the association with the response to specific BRCA1/2-targeted agents is uncertain. To minimise the proportion of VUS in BRCA1/2, we performed the multifactorial likelihood analysis and validated this method using an independent cohort of patients with breast cancer. METHODS: We used a data set of 2115 patients with breast cancer from the nationwide multicentre prospective Korean Hereditary Breast Cancer study. In total, 83 BRCA1/2 VUSs (BRCA1, n=26; BRCA2, n=57) were analysed. The multifactorial probability was estimated by combining the prior probability with the overall likelihood ratio derived from co-occurrence of each VUS with pathogenic variants, personal and family history, and tumour characteristics. The classification was compared with the interpretation according to the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG/AMP) guidelines. An external validation was conducted using independent data set of 810 patients. RESULTS: We were able to redefine 38 VUSs (BRCA1, n=10; BRCA2, n=28). The revised classification was highly correlated with the ACMG/AMP guideline-based interpretation (BRCA1, p for trend=0.015; BRCA2, p=0.001). Our approach reduced the proportion of VUS from 19% (154/810) to 8.9% (72/810) in the retrospective validation data set. CONCLUSION: The classification in this study would minimise the 'uncertainty' in clinical interpretation, and this validated multifactorial model can be used for the reliable annotation of BRCA1/2 VUSs.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Feminino , Estudos de Associação Genética/métodos , Testes Genéticos , Humanos , Análise Multivariada , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Probabilidade , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , República da Coreia/epidemiologia
11.
Clin J Am Soc Nephrol ; 13(6): 858-865, 2018 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-29724791

RESUMO

BACKGROUND AND OBJECTIVES: Sleep duration has been associated with cardiometabolic risk and mortality. The health-related quality of life represents a patient's comprehensive perception of health and is accepted as a health outcome. We examined the relationship between sleep duration and health-related quality of life in predialysis CKD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this cross-sectional study, data from 1910 adults with CKD enrolled in the Korean Cohort Study for Outcome in Patients with CKD were analyzed. Health-related quality of life was assessed with the physical component summary and mental component summary of the Short Form-36 Health Survey. Low health-related quality of life was defined as a Short Form-36 Health Survey score >1 SD below the mean. Using a generalized additive model and multivariable logistic regression analysis, the relationship between self-reported sleep duration and health-related quality of life was examined. RESULTS: Seven-hour sleepers showed the highest health-related quality of life. We found an inverted U-shaped relationship between sleep duration and health-related quality of life as analyzed by a generalized additive model. In multivariable logistic analysis, short sleepers (≤5 h/d) had lower health-related quality of life (odds ratio, 3.23; 95% confidence interval, 1.86 to 5.60 for the physical component summary; odds ratio, 2.37; 95% confidence interval, 1.43 to 3.94 for the mental component summary), and long sleepers (≥9 h/d) had lower health-related quality of life (odds ratio, 2.80; 95% confidence interval, 1.55 to 5.03 for the physical component summary; odds ratio, 2.08; 95% confidence interval, 1.20 to 3.60 for the mental component summary) compared with 7-hour sleepers. Sleep duration had a significant U-shaped association with low health-related quality of life. CONCLUSIONS: These findings suggest that short or long sleep duration is independently associated with low health-related quality of life in adults with CKD.


Assuntos
Qualidade de Vida , Diálise Renal , Insuficiência Renal Crônica/psicologia , Sono , Adulto , Idoso , Estudos Transversais , Feminino , Taxa de Filtração Glomerular , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Insuficiência Renal Crônica/terapia
12.
BMJ Open ; 8(4): e019327, 2018 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-29674364

RESUMO

PURPOSE: The Health and Prevention Enhancement (H-PEACE) study was designed to investigate the association of diagnostic imaging results, biomarkers and the predisease stage of non-communicable diseases (NCDs), such as malignancies and metabolic diseases, in an average-risk population in Korea. PARTICIPANTS: This study enrolled a large-scale retrospective cohort at the Healthcare System Gangnam Center, Seoul National University Hospital, from October 2003 to December 2014. FINDINGS TO DATE: The baseline and follow-up information collected in the predisease stage of NCDs allows for evaluation of an individual's potential NCD risk, which is necessary for establishing personalised prevention strategies. A total of 91 336 health examinees were included in the cohort, and we repeatedly measured and collected information for 50.9% (n=46 484) of the cohort members. All participants completed structured questionnaires (lifestyle, medical history, mini-dietary assessment index, sex-specific variables and psychiatric assessment), doctors' physical examinations, laboratory blood and urine tests and digital chest X-ray imaging. For participants with available data, we also obtained information on specific diagnostic variables using advanced diagnostic tests, including coronary CT for coronary calcium scores, colonoscopy and brain MRI. Furthermore, 17 455 of the participants who provided informed consent and donated blood samples were enrolled into the Gene-environmental interaction and phenotype study, a subcohort of the H-PEACE, from October 2013, and we analysed genome-wide single-nucleotide polymorphism array data for 6579 of these blood samples. FUTURE PLANS: The data obtained from this cohort will be used to facilitate advanced and accurate diagnostic techniques related to NCDs while considering various phenotypes. Potential collaborators can access the dataset after receiving approval from our institutional review board. Applications can be submitted on the study homepage (http://en-healthcare.snuh.org/HPEACEstudy).


Assuntos
Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Adulto , Idoso , Dieta , Feminino , Hospitais Universitários , Humanos , Estilo de Vida , Masculino , Anamnese , Pessoa de Meia-Idade , República da Coreia , Estudos Retrospectivos , Seul
13.
Hum Mutat ; 39(5): 593-620, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29446198

RESUMO

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Internacionalidade , Mutação/genética , Bases de Dados Genéticas , Família , Geografia , Humanos
14.
J Korean Med Sci ; 32(2): 221-230, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28049232

RESUMO

The KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD) was developed to investigate various clinical courses and risk factors for progression of Korean chronic kidney disease (CKD). The KNOW-CKD study consists of nine clinical centers in Korea, and patients aged between 20 and 75 years with CKD from stage 1 to 5 (predialysis) were recruited. At baseline, blood and urine samples were obtained and demographic data including comorbidities, drugs, quality of life, and health behaviors were collected. Estimated glomerular filtration rate (eGFR) was calculated by 4-variable Modification of Diet in Renal Disease (MDRD) equation using isotope dilution mass spectrometry (IDMS)-calibrated serum creatinine measured at a central laboratory. As a dynamic cohort, a total of 2,341 patients were enrolled during the enrollment period from 2011 until 2015, among whom 2,238 subjects were finally analyzed for baseline profiles. The mean age of the cohort was 53.7 ± 12.2 year and 61.2% were men. Mean eGFR was 50.5 ± 30.3 mL/min/1.73 m². The participants with lower eGFR had a tendency to be older, with more comorbidities, to have higher systolic blood pressure (BP) and pulse pressure, with lower income level and education attainment. The patients categorized as glomerulonephritis (GN) were 36.2% followed by diabetic nephropathy (DN, 23.2%), hypertensive nephropathy (HTN, 18.3%), polycystic kidney disease (PKD, 16.3%), and other unclassified disease (6.1%). The KNOW-CKD participants will be longitudinally followed for 10 years. The study will provide better understanding for physicians regarding clinical outcomes, especially renal and cardiovascular outcomes in CKD patients.


Assuntos
Insuficiência Renal Crônica/patologia , Adulto , Fatores Etários , Idoso , Grupo com Ancestrais do Continente Asiático , Estudos de Coortes , Creatinina/sangue , Demografia , Nefropatias Diabéticas/complicações , Feminino , Taxa de Filtração Glomerular , Glomerulonefrite/complicações , Humanos , Hipertensão Renal/complicações , Masculino , Pessoa de Meia-Idade , Nefrite/complicações , Doenças Renais Policísticas/complicações , Insuficiência Renal Crônica/etiologia , República da Coreia , Fatores de Risco , Índice de Gravidade de Doença
16.
Nutrition ; 33: 254-260, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27692989

RESUMO

OBJECTIVE: Adiponectin (ADPN) has antiatherogenic, anti-inflammatory, and insulin-sensitizing effects. Serum ADPN levels are increased in patients with chronic kidney diseases (CKD), and higher ADPN is paradoxically a predictor of mortality in these patients. The aim of this study was to determine the association between serum ADPN levels and protein-energy wasting (PEW) in predialysis CKD. METHOD: We examined serum ADPN concentrations and PEW in 1303 patients from the KNOW-CKD (KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease) study. PEW was defined as the presence of three or more of the following four indicators: serum albumin <3.8 g/dL, body mass index <23 kg/m2, urine creatinine excretion (UCE) below the lower quartile, and daily dietary protein intake <0.6 g/kg. We analyzed the association between PEW and ADPN using a multivariate regression model after adjustment for socioeconomic factors, comorbidities, and laboratory findings. RESULTS: Among 1303 predialysis CKD patients, 72 (5.5%) had PEW. In multivariate logistic regression analysis, higher ADPN level was associated with PEW (odds ratio, 1.04; 95% confidence interval [CI], 1.01-1.08 by 1 µg/mL ADPN). The highest ADPN quartile was associated with PEW in comparison with the lowest quartile (odds ratio, 10.54; 95% CI, 1.28-86.74). In multiple linear regression with PEW indicators, ADPN was more strongly associated with UCE (ß = -2.21; 95% CI, -4.13 to -0.28; R2 = 0.67). CONCLUSION: High ADPN is independently associated with PEW. Among PEW indicators, serum ADPN is closely associated with UCE as an indirect measure of muscle mass.


Assuntos
Adiponectina/sangue , Desnutrição Proteico-Calórica/epidemiologia , Insuficiência Renal Crônica/sangue , Regulação para Cima , Adulto , Idoso , Biomarcadores/sangue , Biomarcadores/urina , Estudos de Coortes , Comorbidade , Creatinina/urina , Estudos Transversais , Feminino , Hospitais Universitários , Humanos , Rim/fisiopatologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/urina , República da Coreia/epidemiologia , Fatores de Risco , Índice de Gravidade de Doença
17.
Kidney Int ; 90(6): 1368-1376, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27884313

RESUMO

In chronic kidney disease (CKD), overweight and mild obesity have shown the lowest cardiovascular (CV) risk. However, central obesity has been directly associated with CV risk in these patients. This bidirectional relationship of body mass index (BMI) and central obesity prompted us to evaluate CV risk based on a combination of BMI and waist-to-hip ratio (WHR) in nondialysis CKD patients. We included 1078 patients with CKD stage 2 through 5 (nondialysis) enrolled in a nationwide prospective cohort of Korea. Patients were divided into 3 groups by BMI (normal BMI, 18.5-22.9; overweight, 23.0-27.4; and obese, 27.5 and over kg/m2) and were dichotomized by a sex-specific median WHR (0.92 in males and 0.88 in females). Coronary artery calcification (CAC) was determined by multislice computed tomography. CAC (score above 10 Agatston units) was found in 477 patients. Multivariate logistic regression analysis indicated that BMI was not independently associated with CAC. However, WHR showed an independent linear and significant association with CAC (odds ratio, 1.036; 95% confidence interval, 1.007-1.065 per 0.01 increase). Furthermore, when patients were categorized into 6 groups according to a combination of BMI and WHR, normal BMI but higher WHR had the highest risk of CAC compared with the normal BMI with lower WHR group (2.104; 1.074-4.121). Thus, a normal BMI with central obesity was associated with the highest risk of CAC, suggesting that considering BMI and WHR, 2 surrogates of obesity, can help to discriminate CV risk in Korean nondialysis CKD patients.


Assuntos
Doença da Artéria Coronariana/etiologia , Obesidade Abdominal/complicações , Insuficiência Renal Crônica/complicações , Calcificação Vascular/etiologia , Adulto , Idoso , Índice de Massa Corporal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , República da Coreia , Medição de Risco , Relação Cintura-Quadril
18.
PLoS One ; 10(10): e0139747, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26430892

RESUMO

BACKGROUND: Anemia is a common complication among patients with chronic kidney disease (CKD), and it is associated with unfavorable clinical outcomes in patients with CKD independent of the estimated glomerular filtration rate (eGFR). We assessed the association of the urinary albumin-to-creatinine ratio (ACR) and eGFR with anemia in CKD patients. METHODS: We conducted a cross-sectional study using baseline data from the KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease (KNOW-CKD). Multiple regression analysis was performed to identify the independent association of albuminuria with anemia. Furthermore, odds ratios for anemia were calculated by cross-categorization of ACR and eGFR. RESULTS: Among 1,456 patients, the mean age was 53.5 ± 12.4 years, and the mean eGFR and ACR were 51.9 ± 30.5 mL/min per 1.73 m2 and 853.2 ± 1,330.3 mg/g, respectively. Anemia was present in 644 patients (40.5%). Multivariate analysis showed that the odds ratio of anemia increased according to ACR levels, after adjusting for age, sex, eGFR, body mass index, pulse pressure, cause of CKD, use of erythropoiesis stimulating agents, serum calcium and ferritin (ACR < 30 mg/g as a reference group; 30-299 mg/g, adjusted odds ratio (OR) = 1.43, 95% confidence interval (CI) = 0.88-2.33; ≥300 mg/g, adjusted OR = 1.86, 95% CI = 1.12-3.10). In addition, graded associations were observed in cross-categorized groups of a higher ACR and eGFR compared to the reference group with an ACR <30 mg/g and eGFR ≥60 mL/min per 1.73 m2. CONCLUSION: The present study demonstrated that albuminuria was a significant risk factor for anemia in CKD patients independent of the eGFR.


Assuntos
Albuminúria/complicações , Anemia/complicações , Falência Renal Crônica/complicações , Adulto , Idoso , Estudos de Coortes , Humanos , Pessoa de Meia-Idade , República da Coreia , Fatores de Risco , Resultado do Tratamento
19.
BMC Pregnancy Childbirth ; 15: 228, 2015 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-26403183

RESUMO

BACKGROUND: Spontaneous abortion (SA) affects 11.2% of recognized pregnancies in Korea. Many studies have focused on the increased risk of SA in obese populations, but there are few studies that have focused on underweight (Body mass index (BMI) <18.5 kg/m2) women, especially in relation to pre-pregnancy BMI. The aim of this study was to examine the role of pre-pregnancy BMI at age 18-20 in later SA. METHODS: Among the women who were ever pregnant in the Health Examinees Study (HEXA), which was one of the cohorts studied in the KoGES (Korean Genome and Epidemiology Study) from 2004 to 2012 (N = 80,447), the likelihood of SA based on pre-pregnancy BMI, classified by the criteria for Asians (Underweight: <18.5 kg/m2; Normal range: 18.5-22.9 kg/m2; Overweight at risk: 23-24.9 kg/m2; Obese I: 25-29.9 kg/m2; Obese II: ≥30 kg/m2), was presented as odds ratios (ORs) and 95% confidence intervals (95% CIs) using logistic regression models. RESULTS: Being underweight or obese relative to the normal weight range was associated with a higher likelihood of SA (OR = 1.10 [95% CI = 1.05-1.15] in underweight women and OR = 1.06 [95% CI = 0.96-1.16] in obese women), and this effect was much greater in women who experienced recurrent SAs (for three or more SAs: OR = 1.29 [95% CI 1.14-1.46] in underweight women and OR = 1.39 [95% CI 1.09-1.78] in obese women). Obesity was associated with an increased likelihood of SA at a younger age (≤25 years), whereas underweight was associated with an increased OR of SA at an older age (≥26 years). DISCUSSION: As this study was conducted with baseline data of original cohort which focused on other chronic diseases, recall for previous pregnancy-related information might be less accurate. However, this study shows strength in its large size and prospective potential. CONCLUSIONS: Pre-pregnancy BMI at ages 18-20 years revealed a U-shaped association with SA, and underweight and obese women showed increased likelihood for SA during different age periods.


Assuntos
Aborto Espontâneo/etiologia , Índice de Massa Corporal , Sobrepeso/complicações , Magreza/complicações , Aborto Espontâneo/epidemiologia , Adolescente , Adulto , Feminino , Humanos , Razão de Chances , Gravidez , Saúde Reprodutiva , República da Coreia/epidemiologia , Fatores de Risco , Adulto Jovem
20.
Ann Epidemiol ; 24(9): 673-80, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25088752

RESUMO

PURPOSE: Kappa is a widely used measure of agreement. However, it may not be straightforward in some situation such as sample size calculation due to the kappa paradox: high agreement but low kappa. Hence, it seems reasonable in sample size calculation that the level of agreement under a certain marginal prevalence is considered in terms of a simple proportion of agreement rather than a kappa value. Therefore, sample size formulae and nomograms using a simple proportion of agreement rather than a kappa under certain marginal prevalences are proposed. METHODS: A sample size formula was derived using the kappa statistic under the common correlation model and goodness-of-fit statistic. The nomogram for the sample size formula was developed using SAS 9.3. RESULTS: The sample size formulae using a simple proportion of agreement instead of a kappa statistic and nomograms to eliminate the inconvenience of using a mathematical formula were produced. CONCLUSIONS: A nomogram for sample size calculation with a simple proportion of agreement should be useful in the planning stages when the focus of interest is on testing the hypothesis of interobserver agreement involving two raters and nominal outcome measures.


Assuntos
Modelos Estatísticos , Nomogramas , Intervalos de Confiança , Humanos , Projetos de Pesquisa , Tamanho da Amostra
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