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Purpose@#Targeted next-generation sequencing (NGS) is widely used for simultaneously detecting clinically informative genetic alterations in a single assay. Its application in clinical settings requires the validation of NGS gene panels. In this study, we aimed to validate a targeted hybridization capture-based DNA panel (ONCOaccuPanel) using the Illumina MiSeq sequencing platform. The panel allows the simultaneous detection of single-nucleotide variants (SNVs), insertions, deletions, and copy number changes of 323 genes and fusions of 17 genes in solid tumors. @*Materials and Methods@#We used 16 formalin-fixed paraffin-embedded (FFPE) tumor samples with previously known genetic mutations and one reference material (HD827) for validation. Moreover, we sequenced an additional 117 FFPE tumor samples to demonstrate the clinical utility of this panel. @*Results@#Validation revealed a 100% positive percentage agreement and positive predictive value for the detection of SNVs, insertions, deletions, copy number changes, fusion genes, and microsatellite instability–high types. We observed high levels of reproducibility and repeatability (R2 correlation coefficients=0.96-0.98). In the limit of detection assessment, we identified all clinically relevant genes with allele frequencies > 3%. Furthermore, the clinical application of ONCOaccuPanel using 117 FFPE samples demonstrated robust detection of oncogenic alterations. Oncogenic alterations and targetable genetic alterations were detected in 98.2% and 27.4% cases, respectively. @*Conclusion@#ONCOaccuPanel demonstrated high analytical sensitivity, reproducibility, and repeatability and is feasible for the detection of clinically relevant mutations in clinical settings.
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Patients with end-stage kidney disease face increased risk of cardiovascular events, and left ventricular diastolic dysfunction (LVDD) contributes to the high occurrence of cardiovascular mortality (CM). Although a high serum aldosterone (sALD) level is involved in the development of cardiovascular complications in the general population, this association is unclear in patients undergoing hemodialysis. We aimed to determine the impact of sALD on LVDD and CM among hemodialysis patients (HDPs). Methods: We performed a prospective cohort study of maintenance HDPs without cardiovascular disease. The patients were divided into two groups according to the median level of sALD. All patients underwent baseline echocardiography to evaluate diastolic dysfunction (E/e’ ratio > 15). The LVDD and CM rates were compared between the high and low aldosterone groups. Results: We enrolled a total of 60 adult patients (mean age, 57.9 ± 12.1 years; males, 30.0%). The low aldosterone group had an increased left ventricular diastolic dimension compared with the high aldosterone group (52.2 ± 8.4 mm vs. 50.3 ± 5.2 mm, respectively; p = 0.03). Low log-aldosterone (odds ratio [OR], 0.40; 95% confidence interval [CI], 0.19–0.86) and large left atrial dimension (OR, 1.31; 95% CI, 1.11–1.54) were independent risk factors for LVDD at baseline. In addition, Cox regression analysis demonstrated that low sALD was an independent predictor of CM in HDPs (hazard ratio, 0.46; 95% CI, 0.25–0.85; p = 0.01) during follow-up. Conclusion: Low sALD was not only associated with LVDD but was also an independent predictor of CM among HDPs regardless of their interdialytic weight gain.
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The coronavirus disease 2019 (COVID-19) pandemic has impacted the medical, social, and reproductive health of millions of people since its outbreak. The causative virus transmits, reproduces, and manifests through the respiratory tract. COVID-19 can invade any system of the body, including the cardiovascular and endocrine systems, through a secondary immune response. In particular, because the fatality rate is high in those over the age of 50 years, special attention is required during the medical care of this population. However, considering the benefit of therapy and the risk of COVID-19, high-quality evidence regarding individualized management in relation to hormone therapy is still insufficient in the field of gynecology. Furthermore, this review aims to serve as a reference for clinical application by analyzing and summarizing the results of studies reported to date regarding female hormone therapy in the context of the COVID-19 pandemic.
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Methods@#This is a post hoc analysis of a prospective, controlled, randomized, unblinded study with 78 Korean hemodialysis patients receiving intravenous (n = 40) or subcutaneous (n = 38) erythropoietin therapy. We evaluated hemoglobin variability by calculating the frequency of hemoglobin measurements outside the target range during all visits. The high-frequency group was defined by those with hemoglobin variability over the median value (25%) while the low-frequency group was defined by those with hemoglobin variability of <25%. @*Results@#In this analysis, 37 patients (51.1%) were men, and the mean age was 50.6 ± 12.5 years. Twenty-five patients (35.2%) had diabetes mellitus. The frequency of the value being outside the target hemoglobin range was higher in the subcutaneous group compared to the intravenous group (0.36 ± 0.19 vs. 0.27 ± 0.12/visit, p = 0.03). The low-frequency group required significantly lower erythropoietin doses compared to the high-frequency group. In the adjusted Cox analysis, the parameter high-frequency group was a significant independent risk factor for cardiovascular events (hazard ratio, 3.53; 95% confidence interval, 1.15–10.83; p = 0.03). @*Conclusion@#The risk of missing the target hemoglobin range increased with subcutaneous administration compared with intravenous erythropoietin administration in hemodialysis patients. An increased frequency of the value being outside the target hemoglobin range was also associated with an increased risk of cardiovascular events.
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Purpose@#Obesity is a risk factor for various adult diseases such as type 2 diabetes, cardio-cerebrovascular disease, and cancer. With an increasing obesity population worldwide, the prevention of obesity with natural components has emerged as an alternative health care strategy. Ramulus mori (Sangzhi, RM) is widely used as a traditional herbal medicine in East Asia. It contains various phytochemicals, including stilbenes and 2-arylbenzofurans. In this study, we compared the anti-obesity effects of RM extracts and its major stilbene components (mulberroside A [MSA] and oxyresveratrol [ORT]) in high fat diet (HFD)-fed obese mice. @*Methods@#Five week-old, male C57BL/6J mice were grouped into 7 experimental groups: normal diet (ND), HFD, HFD + 1% RM water extracts (MW), HFD + 0.1% MSA, HFD + 1% RM ethanol extracts (ME), HFD + 0.1% ORT, and HFD + 1% Garcinia cambogia extracts (GC) as a positive control. All mice were fed experimental diet for 13 weeks. @*Results@#Compared to the HFD group, total body weight and weekly body weight gain were significantly decreased in the ME, ORT, and GC groups. Glucose tolerance level was significantly decreased in all experimental groups, whereas plasma insulin level was decreased in MSA, ME, ORT and GC groups. Plasma glucose, triglyceride (TG), and total cholesterol levels were significantly decreased, whereas high-density lipoprotein cholesterol levels were increased in the MSA, ORT, and GC groups. Hepatic TG accumulation was also significantly decreased in the MSA, ME, ORT, and GC groups. Adipose tissue weight and size of adipocytes were significantly decreased in the MSA, ME and ORT groups, and were comparable to values obtained in the GC group. The levels of adiponectin and SREBP1c mRNA expressions were increased in the ORT and GC groups. @*Conclusion@#These results indicate that ME, ORT and MSA exert significant anti-obesity effect, and have the potential to be developed as a weight control ingredient of functional foods.
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Purpose@#Obesity is a risk factor for various adult diseases such as type 2 diabetes, cardio-cerebrovascular disease, and cancer. With an increasing obesity population worldwide, the prevention of obesity with natural components has emerged as an alternative health care strategy. Ramulus mori (Sangzhi, RM) is widely used as a traditional herbal medicine in East Asia. It contains various phytochemicals, including stilbenes and 2-arylbenzofurans. In this study, we compared the anti-obesity effects of RM extracts and its major stilbene components (mulberroside A [MSA] and oxyresveratrol [ORT]) in high fat diet (HFD)-fed obese mice. @*Methods@#Five week-old, male C57BL/6J mice were grouped into 7 experimental groups: normal diet (ND), HFD, HFD + 1% RM water extracts (MW), HFD + 0.1% MSA, HFD + 1% RM ethanol extracts (ME), HFD + 0.1% ORT, and HFD + 1% Garcinia cambogia extracts (GC) as a positive control. All mice were fed experimental diet for 13 weeks. @*Results@#Compared to the HFD group, total body weight and weekly body weight gain were significantly decreased in the ME, ORT, and GC groups. Glucose tolerance level was significantly decreased in all experimental groups, whereas plasma insulin level was decreased in MSA, ME, ORT and GC groups. Plasma glucose, triglyceride (TG), and total cholesterol levels were significantly decreased, whereas high-density lipoprotein cholesterol levels were increased in the MSA, ORT, and GC groups. Hepatic TG accumulation was also significantly decreased in the MSA, ME, ORT, and GC groups. Adipose tissue weight and size of adipocytes were significantly decreased in the MSA, ME and ORT groups, and were comparable to values obtained in the GC group. The levels of adiponectin and SREBP1c mRNA expressions were increased in the ORT and GC groups. @*Conclusion@#These results indicate that ME, ORT and MSA exert significant anti-obesity effect, and have the potential to be developed as a weight control ingredient of functional foods.
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Background@#Intrarenal renin-angiotensin system (RAS) is known to play the major role in the development of hypertension and renal progression in autosomal dominant polycystic kidney disease (ADPKD). Urinary angiotensinogen to creatinine ratio (AGT/Cr) was suggested as a novel biomarker to reflect intrarenal RAS activity. This study was performed to evaluate urinary AGT/Cr as a predictive biomarker for renal function decline in addition to imaging classification in a prospective ADPKD cohort. @*Methods@#From 2011 to 2016, a total of 364 ADPKD patients were enrolled in the prospective cohort called the KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD). Among them, a total of 207 subjects in chronic kidney disease stage 1–4 with baseline urinary AGT and total kidney volume and subsequent renal function follow-up data over more than 1 year were included in the analysis. Patients were defined as slow progressors (SP) if they are classified as 1A or 1B by imaging classification whereas rapid progressors (RP) if they are classified as 1C–1E. Patients were divided according to AGT/Cr quartiles and annual estimated glomerular filtration rate (eGFR) slope was compared among highest quartile (hAGT group) and the rest of quartiles (lAGT group). Patients were divided into 4 groups to evaluate the predictive value of urinary AGT/Cr in addition to imaging classification: SP/lAGT, SP/hAGT, RP/lAGT, and RP/hAGT. The Cox regression model was used to evaluate the hazard ratio (HR) between groups. @*Results@#The mean age was 45.9 years and 88.9% had hypertension. Baseline eGFR was 79.0 ± 28.4 mL/min/1.73 m2 and median height-adjusted total kidney volume was 788.2 (471.2;1,205.2) mL/m. The patients in the hAGT group showed lower eGFR (72.4 ± 24.8 vs. 81.1 ± 29.2 mL/min/1.73 m2, P = 0.039), lower plasma hemoglobin (13.0 ± 1.4 vs. 13.7 ± 1.6 g/dL, P = 0.007), higher urinary protein to creatinine ratio (0.14 [0.09, 0.38] vs. 0.07 [0.04, 0.12] g/g, P = 0.007) compared to the lAGT group. The hAGT group was an independent risk factor for faster eGFR decline after adjusting for gender, RP, baseline eGFR, and other known risk factors. During median follow-up duration of 4.6 years, a total of 29 renal events (14.0%) occurred. The SP/hAGT group showed significantly higher risk of developing renal outcome compared to SP/lAGT group (HR, 13.4; 95% confidence interval, 1.282–139.324; P = 0.03). @*Conclusion@#Urinary AGT/Cr can be a useful predictive marker in the patients with relatively small ADPKD. Various biomarkers should be considered to define RP when implementing novel treatment in the patients with ADPKD.
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OBJECTIVES: Female breast cancer patients generally have limited knowledge regarding issues related to preservation of ovarian function and fertility. The present study aimed to explore the change in the understanding of these issues when female breast cancer patients are educated and counseled about ovarian function and fertility after anticancer treatment.METHODS: One hundred nine young female breast cancer patients completed a questionnaire, which revealed their thoughts and opinions before and after receiving the education about ovarian function and fertility. Their responses were analyzed to determine the impact of the education on their perception and understanding of the aforementioned issues.RESULTS: The objective survey had four main themes: planning and desire for children, degree of baseline understanding of the effects of anticancer therapy on fertility and ovarian function, resultant change in cognition after education about cancer treatment and its relationship with fertility, and need for education regarding the types of therapies received and their effects on subsequent ovarian function and fertility before treatment.CONCLUSIONS: The preservation of ovarian function and fertility is an important factor that must be included in the discussion prior to initiation of anticancer therapy. Although the study results do not have high educational effectiveness or a high satisfaction with education, there is a need for information and education regarding the impact of anticancer treatment on preservation of ovarian function and fertility.
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Criança , Feminino , Humanos , Neoplasias da Mama , Mama , Cognição , Educação , FertilidadeRESUMO
An adenomyoma is a rare, benign tumor, characteristically composed of a mixture of glandular structures with intervening bundles of smooth muscle. An adenomyoma is considered to be a variant of an ectopic pancreas, without exocrine or endocrine components. Adenomyomas of the gastrointestinal tract are found most frequently in the stomach and the small intestine is rarely involved. Gastric adenomyoma is frequently localized in the antrum or pylorus and very rarely occurs in the body. Adenomyomas often appear as a submucosal mass. A 48-year-old man was referred for further management of a 2.5-cm pedunculated polyp in the stomach. The resected tumor was diagnosed as an adenomyoma of the stomach. To the best of our knowledge, this is the first case reported in the literature of gastric adenomyoma that presented as a pedunculated polyp in the body and was treated completely with endoscopic resection.
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Humanos , Pessoa de Meia-Idade , Adenomioma , Trato Gastrointestinal , Intestino Delgado , Músculo Liso , Pâncreas , Pólipos , Piloro , EstômagoRESUMO
BACKGROUND/AIMS: The natural history of severe erosive reflux disease in Korea remains uncertain. We aimed to evaluate endoscopic follow-up results in subjects with severe reflux esophagitis under routine clinical care. MATERIALS AND METHODS: A total 61,891 subjects underwent an upper endoscopic examination in the health check-up program from January 2007 to December 2013. We reviewed medical charts of patients who had been diagnosed with severe reflux esophagitis. The severity of reflux esophagitis was determined by the Los Angeles (LA) classification system. Patients underwent at least one follow up endoscopy after diagnosis of severe reflux esophagitis. We classified the patients into two groups; regressed in severity and remained unchanged, according to follow up endoscopic status. RESULTS: Based on endoscopic findings, 5,938 subjects (9.6%) were found to have reflux esopohagitis: 121 subjects (0.2%) in LA-C; 39 subjects (0.06%) in LA-D. Among 31 patients who had endoscopic follow-up, 23 patients (74.2%) showed regression from LA C/D to LA A/B or minimal change disease or normal. The mean follow up duration was 42.2 months in regression group and 53.2 months in no change group. All patients had been treated with proton pump inhibitors (PPIs) on a regular or on-demand basis. Age, sex, smoking, alcohol, exercise, hypertension, diabetes mellitus, dyslipidemia, sliding hiatal hernia, body mass index, waist circumference and duration of PPIs therapy did not significantly influence regression of severe reflux esophagitis. CONCLUSIONS: The majority of severe reflux esophagitis patients under routine clinical care showed improvement on endoscopic follow-up.
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Humanos , Índice de Massa Corporal , Classificação , Diabetes Mellitus , Diagnóstico , Dislipidemias , Endoscopia , Esofagite , Esofagite Péptica , Seguimentos , Refluxo Gastroesofágico , Hérnia Hiatal , Hipertensão , Coreia (Geográfico) , História Natural , Nefrose Lipoide , Inibidores da Bomba de Prótons , Fumaça , Fumar , Circunferência da CinturaRESUMO
OBJECTIVE: The Empathy Quotient (EQ) is a self-reported test developed by Baron-Cohen et al. (2004) to measure the cognitive and affective aspects of empathy. The purpose of this study was to develop a Korean version of EQ and to establish its psychometric properties based on a representative Korean sample. METHODS: The Korean version of EQ and its correspondence with another popular measure of empathy, the Korean version of the Interpersonal Reactivity Index (IRI), were evaluated in a sample of 478 volunteers (156 men, 322 women; mean age, 27.2 years). A test-retest study was conducted at 1 month on a selected sample of 20 subjects from the original sample. Correlation and confirmatory factor analyses were conducted. RESULTS: The test-retest reliability was good, and the internal consistency was acceptable (Cronbach's alpha=0.78). Positive correlations were found between the EQ and three subfactors of the IRI, perspective taking, empathic concern, and fantasy, and the total EQ score was negatively correlated with the personal distress subscale. The confirmatory analyses suggested that the three-factor structure offered a good fit to the data. CONCLUSION: These findings support the reliability and validity of the Korean version of the EQ.