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1.
Artigo em Inglês | MEDLINE | ID: mdl-37572297

RESUMO

OBJECTIVE: Anti-TNF biologics have been widely used to ameliorate disease activity in patients with rheumatoid arthritis (RA). However, a large fraction of patients show a poor response to these agents. Moreover, no clinically applicable predictive biomarkers have been established. This study aimed to identify response-associated biomarkers using longitudinal transcriptomic data in two independent RA cohorts. METHODS: RNA sequencing data from peripheral blood cell samples of Korean and Caucasian RA cohorts before and after initial treatment with anti-TNF biologics were analyzed to assess treatment-induced expression changes that differed between highly reliable excellent and null responders. Weighted correlation network, immune cell composition, and key driver analyses were performed to understand response-associated transcriptomic networks and cell types and their correlation with disease activity indices. RESULTS: In total, 305 response-associated genes showed significantly different treatment-induced expression changes between excellent and null responders. Co-expression network construction and subsequent key driver analysis revealed that 41 response-associated genes played a crucial role as key drivers of transcriptomic alteration in four response-associated networks involved in various immune pathways: type I interferon signalling, myeloid leucocyte activation, B cell activation, and NK cell/lymphocyte-mediated cytotoxicity. Transcriptomic response scores that we developed to estimate the individual-level degree of expression changes in the response-associated key driver genes were significantly correlated with the changes in clinical indices in independent patients with moderate or ambiguous response outcomes. CONCLUSIONS: This study provides response-specific treatment-induced transcriptomic signatures by comparing the transcriptomic landscape between patients with excellent and null responses to anti-TNF drugs at both gene and network levels.

2.
Neurol Sci ; 44(2): 593-600, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36271260

RESUMO

BACKGROUND: Increased uric acid may have a protective effect in motor neuron diseases (MNDs). The association between gout, characterized by hyperuricemia, and MNDs was not investigated previously. To estimate the prevalence of MNDs in gout patients using the Health Insurance and Review Assessment (HIRA) database, a nationwide database of South Korea. METHODS: The current descriptive study was conducted using the HIRA database. Subjects diagnosed with gout from 2011 to 2018 were included in this study. Among them, the annual prevalence of MNDs was analyzed, stratified by age and sex. Comorbidities including the Charlson Comorbidity Index score and type of prescribed gout-related drug were also demonstrated. RESULTS: The age-adjusted prevalence of MNDs per 105 persons ranged from 0.598 (95% confidence interval (CI): - 0.231-1.426) to 2.534 (95% CI: 1.100-3.968) between 2011 and 2018. Compared to previous reports, the prevalence of MNDs, especially amyotrophic lateral sclerosis (ALS), in gout patients was significantly lower than in the general population. None of the female gout patients were diagnosed with MNDs. Cerebrovascular accidents, vascular risk factors including hypertension, dyslipidemia, and diabetic complications, and the use of uric acid-lowering agents were more common in gout patients with MNDs than in those without MNDs. CONCLUSION: This study adds to the evidence of MND prevalence in gout patients. Gout might have a protective effect against the risk of MNDs.


Assuntos
Gota , Doença dos Neurônios Motores , Humanos , Feminino , Ácido Úrico , Estudos de Coortes , Prevalência , Gota/epidemiologia , Gota/complicações , Doença dos Neurônios Motores/epidemiologia , Doença dos Neurônios Motores/complicações
3.
J Korean Med Sci ; 37(41): e297, 2022 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-36281486

RESUMO

BACKGROUND: This study aimed to describe the maternal, obstetrical, and neonatal outcomes in pregnant women with coronavirus disease 2019 (COVID-19) and identify the predictors associated with the severity of COVID-19. METHODS: This multicenter observational study included consecutive pregnant women admitted because of COVID-19 confirmed using reverse transcriptase-polymerase chain reaction (RT-PCR) test at 15 hospitals in the Republic of Korea between January 2020 and December 2021. RESULTS: A total of 257 women with COVID-19 and 62 newborns were included in this study. Most of the patients developed this disease during the third trimester. Nine patients (7.4%) developed pregnancy-related complications. All pregnant women received inpatient treatment, of whom 9 (3.5%) required intensive care, but none of them died. The gestational age at COVID-19 diagnosis (odds ratio [OR], 1.096, 95% confidence interval [CI], 1.04-1.15) and parity (OR, 1.703, 95% CI, 1.13-2.57) were identified as significant risk factors of severe diseases. Among women who delivered, 78.5% underwent cesarean section. Preterm birth (38.5%), premature rupture of membranes (7.7%), and miscarriage (4.6%) occurred, but there was no stillbirth or neonatal death. The RT-PCR test of newborns' amniotic fluid and umbilical cord blood samples was negative for severe acute respiratory syndrome coronavirus 2. CONCLUSION: At the time of COVID-19 diagnosis, gestational age and parity of pregnant women were the risk factors of disease severity. Vertical transmission of COVID-19 was not observed, and maternal severity did not significantly affect the neonatal prognosis.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Nascimento Prematuro , Recém-Nascido , Feminino , Humanos , Gravidez , Teste para COVID-19 , Cesárea , Gestantes , Complicações Infecciosas na Gravidez/diagnóstico , Resultado da Gravidez , Transmissão Vertical de Doenças Infecciosas , DNA Polimerase Dirigida por RNA
4.
J Clin Rheumatol ; 28(1): e26-e32, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-33298816

RESUMO

BACKGROUND/AIMS: To assess the efficacy and safety of intra-articular sacroiliac glucocorticoid injection in ankylosing spondylitis (AS). METHODS: Patients with AS undergoing fluoroscopy-guided intra-articular sacroiliac glucocorticoid injection were enrolled between 2012 and 2018. Efficacy was assessed by numeric pain rating scale, acute phase reactants, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Functional Index, and Ankylosing Spondylitis Disease Activity Score (ASDAS). Patients who started biologics within 3 months despite the intervention were compared with those not starting biologics, hence: the nonbiologic group. RESULTS: A total of 96 patients were treated, with a total of 107 injections. After intervention, there were significant decreases in numeric pain rating scale (7.8 ± 1.8 vs. 3.3 ± 2.2, p < 0.001) and acute phase reactants level (erythrocyte sedimentation rate [ESR] 23.0 mm/h [10.0-47.0 mm/h] vs. 13.0 mm/h [4.0-27.0 mm/h], p < 0.001; C-reactive protein [CRP] 1.0 mg/dL [0.2-2.7 mg/dL] vs. 0.2 mg/dL [0.2-0.9 mg/dL], p < 0.001). Disease activity scores also decreased for BASDAI (6.2 ± 1.8 vs. 4.5 ± 2.5, p = 0.001), Bath Ankylosing Spondylitis Functional Index (5.5 [4.1-7.0] vs. 1.8 [0.5-4.1], p = 0.001), ASDAS-CRP (2.9 ± 1.0 vs. 2.3 ± 1.3, p = 0.046), and ASDAS-ESR (3.7 ± 1.1 vs. 2.4 ± 1.3, p < 0.001). However, 12 patients (12.5%) started biologics within 3 months. These patients showed higher ESR (91.0 mm/h [IQR 21.0-113.0 mm/h] vs. 21.5 mm/h [IQR 9.5-43.0 mm/h], p = 0.010), CRP (8.0 mg/dL [IQR 1.11-17.1 mg/dL] vs. 0.8 mg/dL [IQR 0.2-1.8 mg/dL], p = 0.002), BASDAI (7.4 ± 1.2 vs. 5.9 ± 1.8, p = 0.027), and ASDAS-CRP (4.0 ± 0.5 vs. 2.8 ± 1.0, p = 0.004) than the nonbiologic group. There was no serious adverse event. CONCLUSIONS: Intra-articular sacroiliac glucocorticoid injection can be a safe and effective treatment option for active sacroiliitis in AS.


Assuntos
Glucocorticoides , Espondilite Anquilosante , Sedimentação Sanguínea , Proteína C-Reativa/análise , Glucocorticoides/administração & dosagem , Humanos , Injeções Intra-Articulares , Índice de Gravidade de Doença , Espondilite Anquilosante/diagnóstico , Espondilite Anquilosante/tratamento farmacológico
5.
Rheumatology (Oxford) ; 60(6): 2697-2705, 2021 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-33241295

RESUMO

OBJECTIVE: Previous studies have indicated that Behçet's disease (BD) has a genetic component, however population-level familial risk estimates are unavailable. We quantified the familial incidence and risk of BD in first-degree relatives (FDR) according to age, sex and type of family relationship. METHODS: Using the Korean National Health Insurance database, which has full population coverage and confirmed FDR information, we constructed a cohort of 21 940 795 individuals comprising 12 million families, which were followed for a familial occurrence of BD from 2002 to 2017. Age- and sex-adjusted incidence risk ratios for BD were calculated in individuals with affected FDR compared with those without affected FDR. RESULTS: Among the total study population, 53 687 individuals had affected FDR, of whom 284 familial cases developed BD with an incidence of 3.57/104 person-years. The familial risk (incidence) for BD was increased to 13.1-fold (2.71/104 person-years) in individuals with an affected father, 13.9-fold (3.11/104 person-years) with affected mother, 15.2-fold (4.9/104 person-years) with an affected sibling and the highest risk was 165-fold (46/104 person-years) with an affected twin. Familial risks showed age dependence, being higher in younger age groups. The sex-specific familial risk was similar in males and females. CONCLUSION: This study provides quantified estimates of familial incidence and risk in FDR of BD patients in an entire population. Familial risks were higher within generation (sibling-sibling) vs between generations (parent-offspring). This implicates complex interactions between genetic factors and shared childhood environmental exposures in the pathogenesis of BD.


Assuntos
Síndrome de Behçet/genética , Família , Predisposição Genética para Doença , Fatores Etários , Síndrome de Behçet/epidemiologia , Bases de Dados Factuais/estatística & dados numéricos , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/genética , Pai/estatística & dados numéricos , Feminino , Humanos , Incidência , Masculino , Mães/estatística & dados numéricos , República da Coreia/epidemiologia , Fatores Sexuais , Irmãos
6.
Rheumatology (Oxford) ; 60(12): 5814-5819, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-33576774

RESUMO

OBJECTIVES: To assess the efficacy of an endothelin receptor antagonist (ERA) and phosphodiesterase type5 inhibitors (PDE5is) for treating SSc-related digital ulcers (DUs). METHODS: This prospective, multicentre, observational cohort study recruited patients with active SSc-related DUs from 13 medical centres in South Korea. The primary outcome was time to cardinal ulcer (CU) healing. A secondary outcome was time to new DU occurrence. Patients were followed up 4, 8, 12 and 24 weeks after treatment initiation. RESULTS: Sixty-three patients were analysed. Their mean age was 49.9 years (s.d. 11.4) and 49 were female. Twenty-eight had limited SSc. Forty-nine patients received ERA, 11 received a PDE5i (9 sildenafil, 1 udenafil and 1 tadalafil) and 3 received other medication. The hazard ratio (HR) for time to CU healing in the ERA group vs the PDE5i group was 0.75 (95% CI 0.35, 1.64; P = 0.47) in an unadjusted model and 0.80 (95% CI 0.36, 1.78; P = 0.59) in a model adjusted for age, sex, use of calcium channel blockers (CCBs), total DU number and initial CU area. The HR for new DU development in the ERA group vs the PDE5i group was 0.39 (95% CI 0.16, 0.93; P = 0.03) in an unadjusted model and 0.32 (95% CI 0.13, 0.81; P = 0.02) in an adjusted model. No patients receiving CCBs developed new DUs at 24 weeks. CONCLUSION: Time to CU healing is comparable for ERA and PDE5i. ERAs are more effective in reducing new DU occurrence than PDE5is. CCBs may be effective as a background medication.


Assuntos
Antagonistas dos Receptores de Endotelina/uso terapêutico , Inibidores da Fosfodiesterase 5/uso terapêutico , Escleroderma Sistêmico/complicações , Úlcera Cutânea/tratamento farmacológico , Adulto , Feminino , Dedos , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , República da Coreia/epidemiologia , Escleroderma Sistêmico/epidemiologia , Úlcera Cutânea/epidemiologia , Úlcera Cutânea/etiologia , Resultado do Tratamento
7.
World J Surg Oncol ; 19(1): 180, 2021 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-34134706

RESUMO

BACKGROUND: There have been many studies on the clinical characteristics of neutrophilic, lymphocytic, and/or eosinophilic pleural effusion. While caring for patients with pleural effusion, we found that histiocytic pleural effusion (HisPE) was not uncommon. However, few studies have explored HisPE. The purpose of the present study was to determine the clinical characteristics and etiologies of HisPE. METHODS: In this retrospective study, HisPE was defined as pleural fluid white blood cells comprised of ≥ 50% histiocytes. Using a clinical data warehouse, patients with HisPE among all patients aged >18 years who underwent thoracentesis and pleural fluid analysis between January 2010 and December 2019 at Ulsan University Hospital were enrolled. A total of 295 (9.0%) of 3279 patients who underwent thoracentesis were identified as HisPE patients. Among them, 201 with exudative HisPE were included. Clinical characteristics and etiologies were extracted from medical records and analyzed. RESULTS: Among the 201 patients with exudative HisPE, the major causes were malignant pleural effusion (n = 102 [50.7%]), parapneumonic effusion (n = 9 [4.5%]), and tuberculous pleurisy (n = 9 [4.5%]). In the 102 patients with malignant pleural effusion, the main types of cancer were lung (n = 42 [41.2%]), breast (n = 16 [15.7%]), and stomach cancer (n = 11 [10.8%]). Among lung cancers, adenocarcinoma (n = 34 [81.0%]) was the most common histology. CONCLUSIONS: The leading cause of exudative HisPE was malignancy, particularly lung cancer. Physicians should consider the possibility of malignant disease if histiocytes are predominantly present in pleural effusion.


Assuntos
Derrame Pleural Maligno , Derrame Pleural , Tuberculose Pleural , Diagnóstico Diferencial , Histiócitos , Humanos , Derrame Pleural/epidemiologia , Derrame Pleural/etiologia , Derrame Pleural Maligno/etiologia , Prognóstico , Estudos Retrospectivos , Tuberculose Pleural/diagnóstico
8.
J Korean Med Sci ; 36(45): e303, 2021 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34811977

RESUMO

BACKGROUND: YouTube has become an increasingly popular educational tool and an important source of healthcare information. We investigated the reliability and quality of the information in Korean-language YouTube videos about gout. METHODS: We performed a comprehensive electronic search on April 2, 2021, using the following keywords-"gout," "acute gout," "gouty arthritis," "gout treatment," and "gout attack"-and identified 140 videos in the Korean language. Two rheumatologists then categorized the videos into three groups: "useful," "misleading," and "personal experience." Reliability was determined using a five-item questionnaire modified from the DISCERN validation tool, and overall quality scores were based on the Global Quality Scale (GQS). RESULTS: Among the 140 videos identified, 105 (75.0%), 29 (20.7%), and 6 (4.3%) were categorized as "useful," "misleading," and "personal experience," respectively. Most videos in the "useful" group were created by rheumatologists (70.5%). The mean DISCERN and GQS scores in the "useful" group (3.3 ± 1.0 and 3.8 ± 0.7) were higher than those in the "misleading" (0.9 ± 1.0 and 1.9 ± 0.6) and "personal experience" groups (0.8 ± 1.2 and 2.0 ± 0.8) (P < 0.001 for both the DISCERN and GQS tools). CONCLUSION: Approximately 75% of YouTube videos that contain educational material regarding gout were useful; however, we observed some inaccuracies in the medical information provided. Healthcare professionals should closely monitor media content and actively participate in the development of videos that provide accurate medical information.


Assuntos
Informação de Saúde ao Consumidor/normas , Gota/patologia , Mídias Sociais , Gota/diagnóstico , Gota/terapia , Humanos , Disseminação de Informação , República da Coreia , Reumatologistas/psicologia
9.
J Korean Med Sci ; 36(41): e263, 2021 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-34697929

RESUMO

BACKGROUND: To evaluate the incidence of fractures and fracture risk factors in Korean patients with polymyalgia rheumatica (PMR). METHODS: All PMR patients who visited a rheumatology clinic at a tertiary referral hospital between March 2005 and March 2018 were retrospectively assessed. We estimated bone mineral density (BMD) screening rate within 6 months of the first visit and classified the patients according to the performance and results of BMD screening. Incidence rates (IRs) of fractures were calculated in each group and risk factors for fractures were identified using Poisson regression analysis. RESULTS: A total of 95 PMR patients with median (interquartile range) age of 64.0 (56.0-72.0) years were included. Baseline BMD was assessed in only 55.8% of these patients (n = 53); 24 patients with osteoporosis, 20 with osteopenia, and 9 with normal BMD. During 433.1 person-years (PYs) of observation, 17 fractures occurred in 12 patients (IR, 3.93 [95% confidence interval (CI), 2.46-6.26]/100 PYs); 8.32 (95% CI, 4.09-16.90)/100 PYs in the osteopenia group, 3.40 (95% CI, 1.30-8.90)/100 PYs in the osteoporosis group, and 3.37 (95% CI, 1.53-7.39)/100 PYs in the no BMD test group. Risk factors for fractures were female sex, advanced age (≥ 65 years), longer follow-up duration, initial glucocorticoid dose ≥ 10 mg/day, and higher cumulative glucocorticoid dose over the first 6 months. CONCLUSION: The incidence rate of fractures in Korean patients with PMR was 3.93/100 PYs. Female sex, advanced age, longer follow-up duration, and increased glucocorticoid dose are risk factors for osteoporotic fracture.


Assuntos
Fraturas Ósseas/diagnóstico , Polimialgia Reumática/patologia , Fatores Etários , Idoso , Densidade Óssea , Doenças Ósseas Metabólicas/complicações , Doenças Ósseas Metabólicas/patologia , Feminino , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Glucocorticoides/uso terapêutico , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Osteoporose/complicações , Osteoporose/patologia , Polimialgia Reumática/complicações , Polimialgia Reumática/tratamento farmacológico , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais
10.
Ann Rheum Dis ; 79(11): 1438-1445, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32723749

RESUMO

OBJECTIVE: Genome-wide association studies (GWAS) in rheumatoid arthritis (RA) have discovered over 100 RA loci, explaining patient-relevant RA pathogenesis but showing a large fraction of missing heritability. As a continuous effort, we conducted GWAS in a large Korean RA case-control population. METHODS: We newly generated genome-wide variant data in two independent Korean cohorts comprising 4068 RA cases and 36 487 controls, followed by a whole-genome imputation and a meta-analysis of the disease association results in the two cohorts. By integrating publicly available omics data with the GWAS results, a series of bioinformatic analyses were conducted to prioritise the RA-risk genes in RA loci and to dissect biological mechanisms underlying disease associations. RESULTS: We identified six new RA-risk loci (SLAMF6, CXCL13, SWAP70, NFKBIA, ZFP36L1 and LINC00158) with pmeta<5×10-8 and consistent disease effect sizes in the two cohorts. A total of 122 genes were prioritised from the 6 novel and 13 replicated RA loci based on physical distance, regulatory variants and chromatin interaction. Bioinformatics analyses highlighted potentially RA-relevant tissues (including immune tissues, lung and small intestine) with tissue-specific expression of RA-associated genes and suggested the immune-related gene sets (such as CD40 pathway, IL-21-mediated pathway and citrullination) and the risk-allele sharing with other diseases. CONCLUSION: This study identified six new RA-associated loci that contributed to better understanding of the genetic aetiology and biology in RA.


Assuntos
Artrite Reumatoide/genética , Predisposição Genética para Doença/genética , Estudos de Casos e Controles , Estudo de Associação Genômica Ampla , Humanos , Polimorfismo de Nucleotídeo Único , República da Coreia
11.
BMC Infect Dis ; 19(1): 174, 2019 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-30782137

RESUMO

BACKGROUND: Severe fever with thrombocytopenia syndrome (SFTS) is emerging in Asian 3 countries, China, Japan and Korea, which are scrub typhus endemic areas, and its incidence is increasing. As the two infections overlap epidemiologically and clinically and the accessibility or sensitivity of diagnostic tests is limited, early clinical prediction may be useful for diagnostic and therapeutic purposes. METHODS: Patients aged ≥16 years who were clinically suspected and laboratory-confirmed to be infected with Orientia tsutsugamushi or the SFTS virus in South Korea were enrolled. Clinical and laboratory parameters were compared. Scrub typhus was further subclassified according to the status of eschar and skin rash. An SFTS prediction scoring tool was generated based on a logistic regression analysis of SFTS compared with scrub typhus. RESULTS: The analysis was performed on 255 patients with scrub typhus and 107 patients with SFTS. At initial presentation, subjective symptoms except for gastrointestinal symptoms, were more prominent in scrub typhus patients. In addition to the characteristic eschar and skin rash, headache was significantly more prominent in scrub typhus, while laboratory abnormalities were more prominent in SFTS. Leukopenia (white blood cell count < 4000/mm3; odds ratio [OR] 30.13), thrombocytopenia (platelet count < 80,000 /mm3; OR 19.73) and low C-reactive protein (< 1 mg/dL; OR 67.46) were consistent risk factors for SFTS (all P < 0.001). A prediction score was generated using these 3 variables, and a score ≥ 2 had a sensitivity of 93.1% (95% confidence interval [CI], 87.9-96.4%) and a specificity of 96.1% (95% CI, 93.8-97.6%) for SFTS. CONCLUSION: This prediction scoring tool may be useful for differentiating SFTS from eschar- or skin rash-negative scrub typhus. It is a simple and readily applicable tool with potential for use in primary care settings.


Assuntos
Infecções por Bunyaviridae/diagnóstico , Tifo por Ácaros/diagnóstico , Adolescente , Idoso , Infecções por Bunyaviridae/virologia , Feminino , Humanos , Leucopenia/virologia , Masculino , Pessoa de Meia-Idade , Razão de Chances , Orientia tsutsugamushi/genética , Orientia tsutsugamushi/patogenicidade , Phlebovirus/genética , Phlebovirus/patogenicidade , República da Coreia , Fatores de Risco , Tifo por Ácaros/epidemiologia , Tifo por Ácaros/virologia , Trombocitopenia/virologia
12.
Mod Rheumatol ; 29(6): 1031-1041, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30334638

RESUMO

Objectives: To investigate the association of hyperuricemia with pulmonary hypertension (PH) in term of subsequent development, severity, and prognosis of PH.Methods: The authors systematically reviewed articles from databases and conducted meta-analyses as follows: (1) association of serum uric acid (UA) levels with the presence of PH; (2) association between serum UA levels and subsequent development of PH, in terms of odds ratio of the development of PH; and (3) association of serum UA levels with severity and prognosis of PH, in terms of pulmonary arterial pressure and hazard ratio of death.Results: Twenty-six studies published between 1999 and 2017 were included. The level of serum UA was higher in subjects with PH than subjects without PH and this finding was observed regardless of status of diuretics use or renal function. The odds ratio of the development of PH was 2.32 (95% CI, 1.05-5.15) in subjects with hyperuricemia. Pulmonary arterial pressure among subjects with PH was also higher in subjects with hyperuricemia than subjects with normouricemia. There was a 19% increased hazard ratio of death (95% CI, 1.06-1.33) among patients with PH who had hyperuricemia.Conclusion: Hyperuricemia is associated with the subsequent development, worse severity and poor prognosis of PH.


Assuntos
Hipertensão Pulmonar/epidemiologia , Hiperuricemia/complicações , Feminino , Humanos , Hipertensão Pulmonar/sangue , Hipertensão Pulmonar/complicações , Hiperuricemia/sangue , Hiperuricemia/epidemiologia , Masculino , Pessoa de Meia-Idade , Razão de Chances , Prognóstico , Ácido Úrico/sangue
13.
Biochem Biophys Res Commun ; 507(1-4): 148-154, 2018 12 09.
Artigo em Inglês | MEDLINE | ID: mdl-30414672

RESUMO

Mitochondrial dysfunction and subsequent enhanced oxidative stress is implicated in the pathogenesis of autism spectrum disorder (ASD). Mitochondrial transcription factor B2 (TFB2M) is an essential protein in mitochondrial gene expression. No reports have described TFB2M mutations and variations involved in any human diseases. We identified a rare homozygous c.790C>T (His264Tyr) variation in TFB2M gene in two Korean siblings with ASD by whole-exome sequencing. The roles of the TFB2M variation in the pathogenesis of ASD were investigated. Patient fibroblasts revealed increased transcription of mitochondrial genes and mitochondrial function in terms of ATP, membrane potential, oxygen consumption, and reactive oxygen species (ROS). Overexpression of the TFB2M variant in primary-cultured fibroblasts demonstrated significantly increased transcription of mitochondrial genes and mitochondrial function compared with overexpression of wild-type TFB2M. Molecular dynamics simulation of the TFB2M variant protein suggested an increase in the rigidity of the hinge region, which may cause alterations in loading and/or unloading of TFB2M on target DNA. Our results suggest that augmentation of mitochondrial gene expression and subsequent enhancement of mitochondrial function may be associated with the pathogenesis of ASD in Korean patients.


Assuntos
Povo Asiático/genética , Transtorno do Espectro Autista/genética , Predisposição Genética para Doença , Metiltransferases/genética , Proteínas Mitocondriais/genética , Mutação/genética , Fatores de Transcrição/genética , Sequência de Bases , Células Cultivadas , Pré-Escolar , DNA Mitocondrial/genética , Feminino , Fibroblastos/metabolismo , Regulação da Expressão Gênica , Homozigoto , Humanos , Masculino , Metiltransferases/química , Mitocôndrias/metabolismo , Proteínas Mitocondriais/química , Modelos Moleculares , Linhagem , Fatores de Transcrição/química
14.
Rheumatol Int ; 37(10): 1735-1745, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28748423

RESUMO

To identify the prevalence of interstitial lung disease (ILD) in Korean patients with rheumatoid arthritis (RA) and assess its effect on mortality. A total of 3555 patients with RA, with chest X-ray or chest computed tomography (CT) data at enrollment were extracted from the KORean Observational study Network for Arthritis cohort, a nationwide prospective cohort for patients with RA in Korea. The patients were classified into two groups: (1) an ILD group by chest X-ray or chest CT scan, and (2) a non-ILD group by these modalities. After comparing the characteristics of the groups at enrollment, mortalities were compared using the log-rank test. To explore the impact of ILD on mortality, Cox proportional hazard models were used. Sixty-four patients (1.8%) were identified with ILD. Male and older patients were more common in the ILD group. During a mean follow-up of 24 months, 6 patients (9.4%) in the ILD group and 25 patients (0.7%) in the non-ILD group died; the survival rate was significantly worse in the ILD group (p < 0.01). On adjusted analysis, ILD was significantly associated with increased mortality (HR 7.89, CI 3.16-19.69, p < 0.01); the risk of death in patients with ILD was even higher than in patients with cardiovascular disease (CVD, HR 4.10, CI 1.79-9.37, p < 0.01). The prevalence of ILD was 1.8% in Korean patients with RA. ILD is a major risk factor for mortality in patients with RA.


Assuntos
Artrite Reumatoide/epidemiologia , Doenças Pulmonares Intersticiais/epidemiologia , Adulto , Idoso , Artrite Reumatoide/diagnóstico por imagem , Artrite Reumatoide/mortalidade , Comorbidade , Feminino , Humanos , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Doenças Pulmonares Intersticiais/mortalidade , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Radiografia Torácica , Taxa de Sobrevida , Tomografia Computadorizada por Raios X
15.
Rheumatol Int ; 37(6): 975-982, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28132102

RESUMO

OBJECTIVE: To compare the clinical effectiveness of two treatment strategies for active rheumatoid arthritis (RA) refractory to conventional synthetic disease-modifying anti-rheumatic drugs (csDMARDs): starting TNF inhibitors (TNFIs) or changing csDMARDs. METHODS: We used two nationwide Korean RA registries for patient selection. TNFI users were selected from the BIOPSY, which is an inception cohort of RA patients starting biologic DMARDs. As a control group, we selected RA patients with moderate or high disease activity from the KORONA database whose treatment was changed to other csDMARDs. After comparing baseline characteristics between the two groups in either unmatched or propensity score matched cohorts, we compared potential differences in the 1-year remission rate as a primary outcome and changes in HAQ-DI and EQ-5D scores as secondary outcomes. RESULTS: A total of 356 TNFI starters and 586 csDMARD changers were identified from each registry as unmatched cohorts, and 294 patients were included in the propensity score matched cohort. In the intention-to-treat analysis, TNFI starters had higher 1-year remission rates than csDMARD changers in both unmatched (19.1 vs. 18.4%, p < 0.01) and matched cohorts (19.7 vs. 15.0%, p < 0.01). In per protocol analysis, TNFI starters had much higher remission rates in unmatched (37.2 vs. 28.0%, p = 0.04) and matched cohorts (35.4 vs. 19.1%, p = 0.04). However, in matched cohorts, no significant differences were observed between two groups in HAQ-DI and EQ-5D scores. CONCLUSIONS: We compared the clinical effectiveness of the two treatment strategies for active RA refractory to csDMARDs. TNFI starters showed higher 1-year remission rates than csDMARD changers.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Substituição de Medicamentos , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto , Idoso , Antirreumáticos/efeitos adversos , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/imunologia , Produtos Biológicos/efeitos adversos , Estudos de Casos e Controles , Pesquisa Comparativa da Efetividade , Bases de Dados Factuais , Avaliação da Deficiência , Feminino , Humanos , Análise de Intenção de Tratamento , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Sistema de Registros , Indução de Remissão , República da Coreia , Fatores de Tempo , Falha de Tratamento , Fator de Necrose Tumoral alfa/imunologia
16.
J Korean Med Sci ; 32(9): 1451-1459, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28776340

RESUMO

The purpose of the present study was to find novel loci associated with hyperuricemia using data from a genome-wide association study (GWAS) conducted on healthy Koreans. We conducted a GWAS using data from a community-based cohort study where 3,647 subjects aged 40-89 were recruited by the Korea National Institute of Health (KNIH). The community-based cohort consisted of subjects who did not suffer from any of 6 major diseases (hypertension, hyperlipidemia, diabetes, heart diseases, brain diseases, and cancers). Epidemiologic information includes 249 traits such as epidemiological surveys, physical examinations, and laboratory tests. A total of 3,647 participants, including 234 hyperuricemia cases (serum uric acid [SUA] level was 7 mg/dL or higher) and 3,413 controls, were genotyped by Illumina HumanOmni1-Quad BeadChip GWAS array at KNIH. In the multivariate regression analysis of clinical variables, significant variables associated with hyperuricemia were male gender (odds ratio [OR], 5.526; P = 3.2 × 10⁻¹°), old age (OR, 1.017; P = 0.040), high body mass index (BMI) (OR, 1.147; P = 5.4 × 10⁻7), current alcohol intake (OR, 2.413; P = 4.7 × 10⁻7), and high creatinine (OR, 1.647; P = 1.6 × 10⁻¹³). We identified a hyperuricemia susceptible loci (rs2054576 in ABCG2, OR, 1.883; P = 4.7 × 10⁻8) that passed a genome-wide significance threshold, adjusted by clinical variables (male, age, BMI, current alcohol, and creatinine). It was first identified that rs2054576 in ABCG2 is associated with hyperuricemia. Our results should be validated through replication studies among other Korean subjects or various ethnic groups.


Assuntos
Membro 2 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Povo Asiático/genética , Hiperuricemia/genética , Proteínas de Neoplasias/genética , Fatores Etários , Idoso , Estudos de Coortes , Creatinina/sangue , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Hiperuricemia/patologia , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único , República da Coreia , Fatores de Risco , Fatores Sexuais , Ácido Úrico/sangue
17.
Clin Anat ; 30(5): 608-613, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28340518

RESUMO

The aim of this study was to identify the prevalence and distribution of sesamoid bones in the hand using digital tomosynthesis (DTS) in comparison to previous studies. Using conventional radiography (CR) and DTS, hand images (81 left and 100 right) taken at a tertiary hospital were retrospectively reviewed. The sesamoid bones were identified in the interphalangeal (IP) and metacarpophalangeal (MCP) joints of the thumb (I), and in the distal interphalangeal (DIP) and metacarpophalangeal (MCP) of index (II), middle (III), ring (IV), and little (V) fingers. Differences in number of sesamoid bones detected on CR and DTS were analyzed. Sesamoid bones were observed in MCP I (100%), MCP II (46%), MCP III (2%), MCP IV (2%), MCP V (53%), and IP I (53%) on CR. Using DTS, sesamoid bones were found more often in MCP I (100%), MCP II (54%), MCP III (2%), MCP IV (1%), MCP V (59%), and IP I (75%). Differences in the mean number of sesamoid bones detected on CR and DTS were statistically significant. Sesamoid bones in DIP joints were frequently observed on DTS, but rarely found on CR. Most sesamoid bones in the hand were detected in MCP I, II, V, and IP I joints, and were more often detected on DTS than CR. DTS is a reliable tool to evaluate bony structures in the hand. Clin. Anat. 30:608-613, 2017. © 2017 Wiley Periodicals, Inc.


Assuntos
Ossos da Mão/anatomia & histologia , Ossos Sesamoides/anatomia & histologia , Adulto , Idoso , Feminino , Ossos da Mão/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Estudos Retrospectivos , Ossos Sesamoides/diagnóstico por imagem , Tomografia por Raios X/métodos
18.
Clin Anat ; 30(8): 1072-1076, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28714106

RESUMO

We previously reported that digital tomosynthesis (DTS) is a reliable tool for evaluating bony structures of the hand. The current study aimed to identify the prevalence and distribution of sesamoid bones and accessory ossicles of the foot using DTS and to compare the results to those of conventional radiography (CR). Foot images (DTS, 213; CR, 44) of 213 patients taken at a tertiary hospital were retrospectively reviewed. Sesamoid bones were identified in the metatarsaophalangeal (MTP), distal interphalangeal (DIP) and interphalangeal (IP) joints of the great (I), second (II), third (III), fourth (IV), and fifth (V) toes. Accessory ossicles were observed in the midfoot and hindfoot. The mean number of sesamoid bones and accessory ossicles was 3.9 ± 1.3 for the left foot and 3.7 ± 1.0 for the right foot on CR; and 3.9 ± 1.4 for the left foot and 3.9 ± 1.3 for the right foot on DTS. Sesamoid bones were observed in MTP I (100%), MTP II (5%), MTP III (2%), MTP IV (2%), MTP V (14%), and IP (68%) on CR. Sesamoid bones were observed in MTP I (100%), MTP II (8%), MTP III (1%), MTP IV (2%), MTP V (25%), and IP I(65%) on DTS. Among accessory ossicles, the most common bone identified was os tibiale externum (23% on CR and 33% on DTS) andos peroneum (14% on CR and 21% on DTS), and os trigonum (32% on CR and 0.5% on DTS). DTS was useful for finding sesamoid bones and accessory ossicles, although there were some limitations in observing the hindfoot. Clin. Anat. 30:1072-1076, 2017. © 2017 Wiley Periodicals, Inc.


Assuntos
Ossos do Pé/anatomia & histologia , Articulação Metatarsofalângica/anatomia & histologia , Ossos Sesamoides/anatomia & histologia , Adulto , Feminino , Ossos do Pé/diagnóstico por imagem , Humanos , Imageamento Tridimensional/métodos , Masculino , Articulação Metatarsofalângica/diagnóstico por imagem , Radiografia , Estudos Retrospectivos , Ossos Sesamoides/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos
19.
Mod Rheumatol ; 27(1): 35-41, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27143194

RESUMO

OBJECTIVE: To identify the level of agreement between patients with rheumatoid arthritis (RA) and physicians in the global assessment of disease activity and to explore factors influencing their discordance. METHODS: A total of 4368 patients with RA were analyzed from the KORean Observational study Network for Arthritis (KORONA) database. Patients were divided into four subgroups according to difference from their physicians in the assessment of disease activity by substracting physician's visual analog scale (VAS) from patient's VAS as follows: positive discordance group I (10 mm ≤ discordance <25 mm), positive discordance group II (≥25 mm), concordance (<|10| mm), and negative discordance (≤ -10mm). Multinomial logistic regression analysis was performed to identify factors associated with discordance. RESULTS: Only 1350 (29.2%) patients were classified in the concordance group. Positive discordance was found in 52.3% of the patients (n = 2425), with 33.7% (n = 1563) showing marked discordance (≥25 mm). The high disease activity (OR =1.41), gastrointestinal (GI) disease (OR =1.28), pain (OR =1.12), fatigue (OR =1.07) were consistently associated with positive discordance. CONCLUSION: More than half of patients with RA thought their disease more severe than their physicians. In addition to high disease activity, pain, fatigue, and sleep disturbance or GI disease were associated with the discordance between physicians and patients with RA.


Assuntos
Artrite Reumatoide , Atitude do Pessoal de Saúde , Atitude Frente a Saúde , Gravidade do Paciente , Escala Visual Analógica , Adulto , Idoso , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/fisiopatologia , Artrite Reumatoide/psicologia , Autoavaliação Diagnóstica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Médicos , República da Coreia
20.
Transpl Infect Dis ; 18(6): 950-953, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27696719

RESUMO

To date, only one case of BK polyomavirus (BKPyV) encephalitis combined with transplant-associated thrombotic microangiopathy has been reported in an hematopoietic stem cell transplantation (HCT) recipient. We report the case of an HCT recipient who developed thrombotic microangiopathy and subsequent BKPyV encephalitis. She died despite treatment with cidofovir, ciprofloxacin, and intravenous immunoglobulin without improvement in mental status. Early suspicion of BKPyV encephalitis in an HCT recipient presenting with altered mental status and hemorrhagic cystitis is important.


Assuntos
Vírus BK/isolamento & purificação , Cistite/tratamento farmacológico , Encefalite/tratamento farmacológico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Infecções por Polyomavirus/tratamento farmacológico , Microangiopatias Trombóticas/complicações , Infecções Tumorais por Vírus/tratamento farmacológico , Anemia Hemolítica/etiologia , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Antivirais/administração & dosagem , Antivirais/uso terapêutico , Vírus BK/fisiologia , Cidofovir , Ciprofloxacina/administração & dosagem , Ciprofloxacina/uso terapêutico , Cistite/complicações , Cistite/virologia , Citosina/administração & dosagem , Citosina/análogos & derivados , Citosina/uso terapêutico , Encefalite/líquido cefalorraquidiano , Encefalite/diagnóstico por imagem , Encefalite/virologia , Evolução Fatal , Feminino , Hematúria/etiologia , Humanos , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas/administração & dosagem , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/administração & dosagem , Fatores Imunológicos/uso terapêutico , Imunossupressores/administração & dosagem , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Organofosfonatos/administração & dosagem , Organofosfonatos/uso terapêutico , Infecções por Polyomavirus/líquido cefalorraquidiano , Infecções por Polyomavirus/diagnóstico por imagem , Infecções por Polyomavirus/virologia , Microangiopatias Trombóticas/etiologia , Tomografia Computadorizada por Raios X , Transplante Homólogo/efeitos adversos , Infecções Tumorais por Vírus/líquido cefalorraquidiano , Infecções Tumorais por Vírus/diagnóstico por imagem , Infecções Tumorais por Vírus/virologia , Ativação Viral/imunologia
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