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ObjectiveTo investigate the protective effect of Genistein against nonalcoholic fatty liver disease （NAFLD） in ovariectomized （OVX） mice and its mechanism. MethodsA total of 40 female C57BL/6 mice， aged 6 weeks， were used to establish an OVX mouse model， and then they were randomly divided into blank group， 4-week model group， 6-week model group， 8-week model group， and 10-week model group， with 8 mice in each group. Under the same environmental conditions， the mice were given high-fat diet for modeling， and pathological examination showed that NAFLD was successfully induced by 10-week high-fat diet. Another 40 female C57BL/6 mice， aged 6 weeks， were randomly divided into blank group， sham operation group （Sham group）， OVX group， OVX+L-Genistein （4 mg/kg body weight） group， and OVX+H-Genistein （8 mg/kg body weight） group. The mice in the Sham group were given the same procedure of OVX， without the ligation of the ovarian artery and the resection of the ovary. The mice in the blank group were given normal diet， and those in the other groups were given high-fat diet. Genistein was dissolved in DMSO， and the mice in the Sham group and the OVX group were treated with solvent solution alone by gavage， once a day for 10 consecutive weeks. Body weight and visceral index were recorded， and the mice were sacrificed to collect serum and liver tissue. Kits were used to measure the activity of alanine aminotransferase （ALT） and aspartate aminotransferase （AST） and the serum levels of triglyceride （TG） and total cholesterol （TC）， and HE staining and oil red O staining were used to observe liver histopathology； Western blot was used to measure the protein expression levels of sterol regulatory element-binding protein 1c （SREBP-1c） and peroxisome proliferator-activated receptor alpha （PPARα） associated with lipid metabolism in liver tissue. A one-way analysis of variance was used for comparison of continuous data between multiple groups， and the Dunnett-t test was used for further comparison between two groups. ResultsAfter 10 weeks of high-fat diet， the OVX+L-Genistein group and the OVX+H-Genistein group had significantly lower body weight， liver index， and liver tissue weight （all P<0.05）. In addition， Genistein significantly downregulated the serum levels of TC and TG （P<0.05） and reduced the activities of serum AST and ALT （P<0.05）. HE and oil red O staining showed that compared with the OVX group， the OVX+L-Genistein group and the OVX+H-Genistein group had a significant reduction in the accumulation of lipid droplets. Western blot showed that after Genistein intervention， there was a significant reduction in the protein expression level of SREBP-1c and a significant increase in the protein expression level of PPARα （P<0.05）. ConclusionGenistein exerts a protective effect against NAFLD in OVX mice possibly by regulating the expression of SREBP-1c and PPARα， thereby promoting fatty acid oxidation and inhibiting liver lipid synthesis.
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Background/Aims@#Chronic hepatitis B (CHB) is related to an increased risk of extrahepatic malignancy (EHM), and antiviral treatment is associated with an incidence of EHM comparable to controls. We compared the risks of EHM and intrahepatic malignancy (IHM) between entecavir (ETV) and tenofovir disoproxil fumarate (TDF) treatment. @*Methods@#Using data from the National Health Insurance Service of Korea, this nationwide cohort study included treatment-naïve CHB patients who initiated ETV (n=24,287) or TDF (n=29,199) therapy between 2012 and 2014. The primary outcome was the development of any primary EHM. Secondary outcomes included overall IHM development. E-value was calculated to assess the robustness of results to unmeasured confounders. @*Results@#The median follow-up duration was 5.9 years, and all baseline characteristics were well balanced after propensity score matching. EHM incidence rate differed significantly between within versus beyond 3 years in both groups (P<0.01, Davies test). During the first 3 years, EHM risk was comparable in the propensity score-matched cohort (5.88 versus 5.84/1,000 person-years; subdistribution hazard ratio [SHR]=1.01, 95% confidence interval [CI]=0.88–1.17, P=0.84). After year 3, however, TDF was associated with a significantly lower EHM incidence compared to ETV (4.92 versus 6.91/1,000 person-years; SHR=0.70, 95% CI=0.60–0.81, P<0.01; E-value for SHR=2.21). Regarding IHM, the superiority of TDF over ETV was maintained both within (17.58 versus 20.19/1,000 person-years; SHR=0.88, 95% CI=0.81–0.95, P<0.01) and after year 3 (11.45 versus 16.20/1,000 person-years; SHR=0.68, 95% CI=0.62–0.75, P<0.01; E-value for SHR=2.30). @*Conclusions@#TDF was associated with approximately 30% lower risks of both EHM and IHM than ETV in CHB patients after 3 years of antiviral therapy.
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Background/Aims@#Guide tube-assisted endoscopy for procedures that require repeated endoscopic access is safer and more effective than conventional endoscopy. However, its effectiveness has not been confirmed in animal studies. We assessed the usefulness of guide tube-assisted endoscopic procedures in an in vivo porcine model. @*Methods@#Five different guide tube-assisted endoscopic procedures were performed by experienced endoscopists on a pig weighing 32 kg. To evaluate the efficacy of these procedures, we compared the endoscopic approach time when a guide tube was used to that when it was not. Additional endoscopic procedures using a guide tube were performed, including multiple foreign body extractions, multiple polypectomies, and multiple submucosal dissections. To evaluate safety, we compared the insertion force into the proximal esophagus between the guide tube and conventional overtube methods. @*Results@#Using the endoscopic approach with a guide tube required a shorter average approach time to reach the three target lesions than when using the endoscopic approach without a guide tube (p<0.001). Compared to the conventional overtube method, the guide tube method produced a lower average resistance during insertion into the upper esophagus (p<0.001). @*Conclusions@#Guide tube-assisted endoscopic procedures are effective and safe for repeated endoscopic access in an in vivo porcine model.
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Objectives@#This study aimed to analyze dental healthcare resources and utilization patterns according to regional characteristics in Korea and to compare disparities in unmet dental care need rates and subjective oral health status. @*Methods@#Dental healthcare resources and utilization patterns were analyzed using data from the National Health Insurance Statistics (NHIS) and the Population and Housing Census (2022). Descriptive statistics were performed on the distribution of dental healthcare resources, such as dental institutions, dentists, and dental hygienists per 100,000 people. Inflow and outflow indices for healthcare utilization were calculated using the number of days of inpatient and outpatient visits for oral diseases. In addition, the association between the type of local governance and unmet oral healthcare needs, as well as subjective oral health status, was analyzed using the chi-square test with the Community Health Survey (2022) data. @*Results@#The number of dental institutions, dentists, and dental hygienists (per 100,000 people) in rural areas (such as “Urban and rural complex - si,” “Gun,” and “Gun with an established public health clinic”) was lower than in urban areas (such as a “[Special] metropolitan city”). The inflow and outflow indices for healthcare utilization by oral disease indicated higher outflows of patients to metropolitan areas. Furthermore, the chi-square analysis revealed that, for the “Gun with an established public health clinic,” more respondents reported unmet dental care needs and poor subjective oral health status (P<0.05). @*Conclusions@#Dental healthcare resources were concentrated in metropolitan areas, and a relatively higher frequency of experience of unmet dental care needs was observed in rural areas. Therefore, policy responses are required to address the disproportionate distribution of dental healthcare resources according to regional factors.
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Background@#The association between renal dysfunction and cardiovascular outcomes has yet to be determined in patients with hypertrophic cardiomyopathy (HCM). We aimed to investigate whether mildly reduced renal function is associated with the prognosis in patients with HCM. @*Methods@#Patients with HCM were enrolled at two tertiary HCM centers. Patients who were on dialysis, or had a previous history of heart failure (HF) or stroke were excluded. Patients were categorized into 3 groups by estimated glomerular filtration rate (eGFR): stage I (eGFR ≥ 90 mL/min/1.73 m2 , n = 538), stage II (eGFR 60–89 mL/min/1.73 m2 , n = 953), and stage III–V (eGFR < 60 mL/min/1.73 m2 , n = 265). Major adverse cardiovascular events (MACEs) were defined as a composite of cardiovascular death, hospitalization for HF (HHF), or stroke during median 4.0-year follow-up. Multivariable Cox regression model was used to adjust for covariates. @*Results@#Among 1,756 HCM patients (mean 61.0 ± 13.4 years; 68.1% men), patients with stage III–V renal function had a significantly higher risk of MACEs (adjusted hazard ratio [aHR], 2.71; 95% confidence interval [CI], 1.39–5.27; P = 0.003), which was largely driven by increased incidence of cardiovascular death and HHF compared to those with stage I renal function. Even in patients with stage II renal function, the risk of MACE (vs. stage I: aHR, 2.21’ 95% CI, 1.23–3.96; P = 0.008) and HHF (vs. stage I: aHR, 2.62; 95% CI, 1.23–5.58; P = 0.012) was significantly increased. @*Conclusion@#This real-world observation showed that even mildly reduced renal function (i.e., eGFR 60–89 mL/min/1.73 m2 ) in patients with HCM was associated with an increased risk of MACEs, especially for HHF.
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Background/Aims@#Since the coronavirus disease 2019 (COVID-19) outbreak, hospitals have implemented infection control measures to minimize the spread of the virus within facilities. This study aimed to investigate the impact of COVID-19 on the incidence of healthcare-associated infections (HCAIs) and common respiratory virus (cRV) infections in hematology units. @*Methods@#This retrospective study included all patients hospitalized in Catholic Hematology Hospital between 2019 and 2020. Patients infected with vancomycin-resistant Enterococci (VRE), carbapenemase-producing Enterobacterales (CPE), Clostridium difficile infection (CDI), and cRV were analyzed. The incidence rate ratio (IRR) methods and interrupted time series analyses were performed to compare the incidence rates before and after the pandemic. @*Results@#The incidence rates of CPE and VRE did not differ between the two periods. However, the incidence of CDI increased significantly (IRR: 1.41 [p = 0.002]) after the COVID-19 pandemic. The incidence of cRV infection decreased by 76% after the COVID-19 outbreak (IRR: 0.240 [p < 0.001]). The incidence of adenovirus, parainfluenza virus, and rhinovirus infection significantly decreased in the COVID-19 period (IRRs: 0.087 [p = 0.003], 0.031 [p < 0.001], and 0.149 [p < 0.001], respectively). @*Conclusions@#The implementation of COVID-19 infection control measures reduced the incidence of cRV infection. However, CDI increased significantly and incidence rates of CPE and VRE remained unchanged in hematological patients after the pandemic. Infection control measures suitable for each type of HCAI, such as stringent hand washing for CDI and enough isolation capacities, should be implemented and maintained in future pandemics, especially in immunocompromised patients.
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Interstitial lung abnormalities (ILAs) are radiologic abnormalities found incidentally on chest computed tomography (CT) that can be show a wide range of diseases, from subclinical lung fibrosis to early pulmonary fibrosis including definitive usual interstitial pneumonia. To clear up confusion about ILA, the Fleischner society published a position paper on the definition, clinical symptoms, increased mortality, radiologic progression, and management of ILAs based on several Western cohorts and articles. Recently, studies on long-term outcome, risk factors, and quantification of ILA to address the confusion have been published in Asia. The incidence of ILA was 7% to 10% for Westerners, while the prevalence of ILA was about 4% for Asians. ILA is closely related to various respiratory symptoms or increased rate of treatment-related complication in lung cancer. There is little difference between Westerners and Asians regarding the clinical importance of ILA. Although the role of quantitative CT as a screening tool for ILA requires further validation and standardized imaging protocols, using a threshold of 5% in at least one zone demonstrated 67.6% sensitivity, 93.3% specificity, and 90.5% accuracy, and a 1.8% area threshold showed 100% sensitivity and 99% specificity in South Korea. Based on the position paper released by the Fleischner society, I would like to report how much ILA occurs in the Asian population, what the prognosis is, and review what management strategies should be pursued in the future.
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Objective:To study the clustered regularly interspaced short palindromic repeats (CRISPR) genotype of Yersinia pestis and its regional distribution characteristics in natural plague focus of Tibet Autonomous Region. Methods:A total of 125 representative Yersinia pestis strains isolated from natural plague focus in Tibet Autonomous Region at different times, regions, hosts and vectors were selected as experimental strains, and the phenol chloroform mixed extraction method was used to extract Yersinia pestis DNA. Three pairs of CRISPR primers (for YPa, YPb, YPc locus) were used to amplify the DNA of the experimental strains, and the CRISPR genotype of Yersinia pestis was determined by sequencing. Results:All 125 strains of Yersinia pestis had three CRISPR locus: YPa, YPb, and YPc. A total of 18 spacer were found, including 8 in YPa loci, 6 in YPb loci, and 4 in YPc loci. Two new types of spacers had been discovered, namely b52 and c14. CRISPR typing revealed 10 genotypes, including G1, G7, G7-b4''', G7-b52, G7-c2 -, G8, G22, G22-a4 -, G22-b4''', and G22-c14, of which 6 were newly discovered genotypes. Among the 125 experimental strains, G7 was the main genotype, accounting for 65.6% (82/125), which was distributed in 6 prefecture level citys and 1 region of Tibet Autonomous Region. Next were G22 and G7-c2 - genetypes, accounting for 14.4% (18/125) and 11.2% (14/125), respectively. G22 gene type was distributed in Nagqu, Changdu, Lhasa citys, and Ngari Prefecture, while G7-c2 - genetype was distributed in Shigatse and Shannan cities. Conclusion:The CRISPR locus of Yersinia pestis in natural plague focus of Tibet Autonomous Region is highly polymorphic, and the Yersinia pestis strains with different genotypes have obvious regional distribution characteristics.
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Background/Aims@#We developed a new endoscopic submucosal dissection (ESD) simulator and evaluated its efficacy and realism for use training endoscopists. @*Methods@#An ESD simulator was constructed using polyvinyl alcohol hydrogel sheets and compared to a previous ESD simulator. Between March 1, 2020, and December 30, 2021, eight expert endoscopists from three different centers analyzed the procedure-related factors of the simulator. Five trainees performed gastric ESD exercises under the guidance of these experts. @*Results@#Although the two ESD simulators provided overall favorable outcomes in terms of ESD-related factors, the new simulator had several benefits, including better marking of the target lesion’s limits (p<0.001) and overall handling (p<0.001). Trainees tested the usefulness of the new ESD simulator. The complete resection rate improved after 3 ESD training sessions (9 procedures), and the perforation rate decreased after 4 sessions (12 procedures). @*Conclusions@#We have developed a new ESD simulator that can help beginners achieve a high level of technical experience before performing real-time ESD procedures in patients.
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Background@#This study aimed to investigate the prevalence and status of dyslipidemia management among South Korean adults, as performed by the Korean Society of Lipid and Atherosclerosis under the name Dyslipidemia Fact Sheet 2022. @*Methods@#We analyzed the lipid profiles, age-standardized and crude prevalence, management status of hypercholesterolemia and dyslipidemia, and health behaviors among Korean adults aged ≥20 years, using the Korea National Health and Nutrition Examination Survey data between 2007 and 2020. @*Results@#In South Korea, the crude prevalence of hypercholesterolemia (total cholesterol ≥240 mg/dL or use of a lipid-lowering drug) in 2020 was 24%, and the age-standardized prevalence of hypercholesterolemia more than doubled from 2007 to 2020. The crude treatment rate was 55.2%, and the control rate was 47.7%. The crude prevalence of dyslipidemia—more than one out of three conditions (low-density lipoprotein cholesterol ≥160 or the use of a lipid-lowering drug, triglycerides ≥200, or high-density lipoprotein cholesterol [HDL-C] [men and women] <40 mg/dL)—was 40.2% between 2016 and 2020. However, it increased to 48.2% when the definition of hypo-HDL-cholesterolemia in women changed from <40 to <50 mg/dL. @*Conclusion@#Although the prevalence of hypercholesterolemia and dyslipidemia has steadily increased in South Korea, the treatment rate remains low. Therefore, continuous efforts are needed to manage dyslipidemia through cooperation between the national healthcare system, patients, and healthcare providers.
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Objectives@#Cardio-cerebrovascular diseases (CVDs) are the leading cause of death in advanced countries due to their upward-trending incidence rates. Preventing CVDs is imperative to ensure a healthy elderly life and prepare for an aging society. Considering the relationship between oral health and systemic health, effective oral health management will have an important role in preventing CVDs. This study aimed to examine the influence of oral health behaviors as risk factors for CVDs. @*Methods@#A custom database combining data from the Korean National Health Insurance Service and the Korea National Health and Nutrition Examination Survey from 2010 to 2017 was analyzed. The study included participants aged 35 or over (n=14,492) with recorded responses on oral health behaviors. Logistic regression analyses were performed to assess the association between oral health behaviors and CVDs. @*Results@#The CVDs group was shown to practice inappropriate oral health management. In comparison to the non-CVDs group, the CVDs group showed a significantly higher rate of 8.0% in ‘once or less’ of toothbrushing frequency (P<0.001). Moreover, the percentage of individuals who did not use oral hygiene supplements was 13.8% higher (P<0.001). Multiple logistic regression analysis revealed that the ‘use of dental floss and/or interdental brush’ was associated with a 16% lower risk for CVDs (P<0.05). Additionally, ‘twice’ and ‘three or more’ of toothbrushing frequency were associated with a 19% and 23% lower risk for CVDs, respectively (P<0.05). @*Conclusions@#The frequency of daily toothbrushing and the utilization of dental floss or interdental brush were significantly associated with CVDs. Therefore, there is a need to consistently emphasize the relationship between oral health and systemic diseases, along with the importance of oral hygiene management.
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Background@#In vitro fertilization-embryo transfer (IVF-ET), an expensive option for infertile couples, started to be fully covered by the National Health Insurance (NHI) from October 2017 in South Korea. We investigated the association between woman’s socioeconomic status (SES) and abortive outcomes in pregnancies after IVF-ET in the setting of universal coverage of the treatment. @*Methods@#Using the NHI database in South Korea, we conducted a retrospective cohort study of all women who achieved clinical pregnancy after ET between October 2017 and February 2019. A total of 44,038 clinical pregnancy episodes of 29,847 women who underwent ET were analyzed. We used employment status, income in percentiles, and living in the Seoul capital area as indicators of SES. Relative risks (RRs) for abortive pregnancy outcomes were calculated for each socioeconomic stratum, using log-binomial regression models included woman’s age, body mass index, fasting blood glucose, fresh ET, month of ET, and history of smoking. @*Results@#While most pregnancy outcomes were live births (n = 30,783, 69.9%), 11,215 (25.5%) cycles ended with abortion or early pregnancy loss, 1,779 (4.0%) cycles were ectopic pregnancy, 45 (0.1%) were coded as molar pregnancy, and 224 (0.5%) were fetal death in utero or stillbirth. The risk of overall abortive outcomes was higher when a woman was unemployed (adjusted RR, 1.08; 95% confidence interval [CI], 1.05–1.11) or living in a nonSeoul capital area (1.11; 95% CI, 1.08–1.14). The association between relative income level and abortive outcomes was close to null. Living outside Seoul capital area was associated with the greater risk of abortive outcomes especially in younger women. @*Conclusion@#Unemployment and living in non-capital areas were associated with a higher risk of abortive outcomes among pregnancies after ET, even in the setting of universal coverage of IVF-ET. This suggests potential impact of socioeconomic position on the IVF-ET pregnancy.
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Objective@#We aimed to assess the level of public awareness regarding dyslipidemia and its management among the Korean population. @*Methods@#We conducted a web- or mobile-based survey study targeting the general population, using various recruitment methods, between July 25, 2022 and August 26, 2022.The questionnaire consisted of 12 questions designed to collect demographic information and evaluate participants’ awareness and knowledge about dyslipidemia. @*Results@#In total, 2,882 participants who completed the survey were included in the analysis.Among the participants, a substantial majority (89.1%) were familiar with the concepts of “good cholesterol” and “bad cholesterol,” while a comparatively lower percentage (just 46.7%) were acquainted with the term “dyslipidemia.” Noticeable variations in understanding were observed when examining specific aspects of dyslipidemia management, including diet, exercise, and pharmacotherapy. @*Conclusion@#The results of this survey underscore the significance of enhancing public awareness about dyslipidemia within the context of health literacy, demonstrating the necessity for a more comprehensive approach that includes education and policymaking to effectively manage dyslipidemia.
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Objective@#This study aimed to investigate the prevalence and status of dyslipidemia management among South Korean adults, as performed by the Korean Society of Lipid and Atherosclerosis under the name Dyslipidemia Fact Sheet 2022. @*Methods@#We analyzed the lipid profiles, age-standardized and crude prevalence, management status of hypercholesterolemia and dyslipidemia, and health behaviors among Korean adults aged ≥20 years, using the Korea National Health and Nutrition Examination Survey data between 2007 and 2020. @*Results@#In South Korea, the crude prevalence of hypercholesterolemia (total cholesterol ≥240 mg/dL or use of a lipid-lowering drug) in 2020 was 24%, and the age-standardized prevalence of hypercholesterolemia more than doubled from 2007 to 2020. The crude treatment rate was 55.2%, and the control rate was 47.7%. The crude prevalence of dyslipidemia (more than one out of three conditions [low-density lipoprotein-cholesterol ≥160 or the use of a lipid-lowering drug, triglycerides ≥200, or high-density lipoprotein-cholesterol (men and women) <40 mg/ dL]) was 40.2% between 2016 and 2020. However, it increased to 48.2% when the definition of hypo-high-density lipoprotein-cholesterolemia in women changed from <40 to <50 mg/dL. @*Conclusion@#Although the prevalence of hypercholesterolemia and dyslipidemia has steadily increased in South Korea, the treatment rate remains low. Therefore, continuous efforts are needed to manage dyslipidemia through cooperation between the national healthcare system, patients, and healthcare providers.
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Objectives@#This study aimed to investigate the correlation of sarcopenic obesity with various cardiometabolic risk factors and fracture risk in middle-aged Korean women. @*Methods@#In this cross-sectional study, the medical records of 1,775 women who had visited Pusan National University Hospital for routine health screenings from 2010 to 2016 were reviewed. The patients were divided into four groups as follows: group 1, nonsarcopenic, nonobese (NS-NO); group 2, nonsarcopenic, obese (NS-O); group 3, sarcopenic, nonobese (S-NO); and group 4, sarcopenic, obese (S-O). Each patient was assessed based on self-reported questionnaires and individual interviews with a healthcare provider. The Fracture Risk Assessment Tool (FRAX) was used to assess bone fracture risk. @*Results@#Postmenopausal women accounted for 68.5% of the total patient population. The proportion of each group was as follows:NS-NO, 71.2%; NS-O, 17.9%; S-NO, 10.2%; and S-O, 0.7%. Statistical analysis of various parameters associated with metabolic and cardiovascular risks revealed that the S-O group had more patients with hypertension, diabetes, osteopenia, and metabolic syndrome.The FRAX scores were significantly higher in the S-O group than in other groups. @*Conclusions@#Middle-aged women with obesity and reduced muscle mass, known as sarcopenic obesity, are at increased risk of hypertension, diabetes, and metabolic syndrome. Furthermore, sarcopenic obesity, individual cardiometabolic risks, and menopause can increase the bone fracture risk.
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Objectives@#Korea and Japan have managed the spread of coronavirus disease 2019 (COVID-19) using markedly different policies, referred to as the “3T” and “3C” strategies, respectively. This study examined these differences to assess the roles of active testing and contact tracing as non-pharmaceutical interventions (NPIs). We compared the proportion of unlinked cases (UCs) and test positivity rate (TPR) as indicators of tracing and testing capacities. @*Methods@#We outlined the evolution of NPI policies and investigated temporal trends in their correlations with UCs, confirmed cases, and TPR prior to the Omicron peak. Spearman correlation coefficients were reported between the proportion of UCs, confirmed cases, and TPR. The Fisher r-to-z transformation was employed to examine the significance of differences between correlation coefficients. @*Results@#The proportion of UCs was significantly correlated with confirmed cases (r=0.995, p<0.001) and TPR (r=0.659, p<0.001) in Korea and with confirmed cases (r=0.437, p<0.001) and TPR (r=0.429, p<0.001) in Japan. The Fisher r-to-z test revealed significant differences in correlation coefficients between the proportion of UCs and confirmed cases (z=16.07, p<0.001) and between the proportion of UCs and TPR (z=2.12, p=0.034) in Korea and Japan. @*Conclusions@#Higher UCs were associated with increases in confirmed cases and TPR, indicating the importance of combining testing and contact tracing in controlling COVID-19. The implementation of stricter policies led to stronger correlations between these indicators. The proportion of UCs and TPR effectively indicated the effectiveness of NPIs. If the proportion of UCs shows an upward trend, more testing and contact tracing may be required.
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Next-generation sequencing (NGS) technologies have revolutionized genetic testing and enabled efficient screening of various genetic conditions in clinical settings. However, the clinical application of genetic test results presents numerous significant challenges. This review aims to provide a comprehensive overview of key concepts for the clinical application of NGS, including (1) technical aspects and limitations, (2) variant classification, (3) clinical interpretation, (4) familial testing and genetic counseling, and (5) ethical considerations.Current Concepts: In short-read-based NGS, several limitations exist in detecting genomic variations, including repetitive sequences or complex structural variations. The variant classification process can be influenced by suspected genomic conditions and the accessibility of genomic databases. Therefore, the final genetic diagnosis depends on the physician’s discretion, which relies on the genotype-phenotype correlations and reverse phenotyping through additional evaluations. Familial testing can help trace the origin of variants and allele segregation and aid in variant interpretation, risk assessment, disease prevention, and family planning. In addition to addressing the clinical impact of genetic results, genetic counselors should also consider potential consequences related to ethical, legal, and social issues, including family dynamics.Discussion and Conclusion: NGS-based genetic testing is a promising diagnostic tool for genetic disorders, but proper variant interpretation and clinical evaluation are crucial for optimal clinical practice. Notably, ethical considerations and regulatory measures are required to prepare for the next era of genomic medicine.
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Background and Objectives@#The prognostic or safety implication of renin-angiotensinaldosterone system inhibitors (RASi) in hypertrophic cardiomyopathy (HCM) are not well established, mainly due to concerns regarding left ventricular outflow tract (LVOT) obstruction aggravation. We investigated the implications of RASi in a sizable number of HCM patients. @*Methods@#We enrolled 2,104 consecutive patients diagnosed with HCM in 2 tertiary university hospitals and followed up for five years. RASi use was defined as the administration of RASi after diagnostic confirmation of HCM. The primary and secondary outcomes were all-cause mortality and hospitalization for heart failure (HHF). @*Results@#RASi were prescribed to 762 patients (36.2%). During a median follow-up of 48.1months, 112 patients (5.3%) died, and 94 patients (4.5%) experienced HHF. Patients using RASi had less favorable baseline characteristics than those not using RASi, such as older age, more frequent history of comorbidities, and lower ejection fraction. Nonetheless, there was no difference in clinical outcomes between patients with and without RASi use (log-rank p=0.368 for all-cause mortality and log-rank p=0.443 for HHF). In multivariable analysis, patients taking RASi showed a comparable risk of all-cause mortality (hazard ratio [HR], 0.70, 95% confidence interval [CI], 0.43–1.14, p=0.150) and HHF (HR, 1.03, 95% CI, 0.63–1.70, p=0.900). In the subgroup analysis, there was no significant interaction of RASi use between subgroups stratified by LVOT obstruction, left ventricular (LV) ejection fraction, or maximal LV wall thickness. @*Conclusions@#RASi use was not associated with worse clinical outcomes. It might be safely administered in patients with HCM if clinically indicated.
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Background@#For acute ischemic stroke (AIS) patients with history of prior stroke (PS) and diabetes mellitus (DM), intravenous recombinant tissue plasminogen activator (IV-tPA) therapy in the 3- to 4.5-hour window is off-label in Korea. This study aimed to assess the safety and efficacy of IV-tPA in these patients. @*Methods@#Using data from a prospective multicenter stroke registry between January 2009 and March 2021, we identified AIS patients who received IV-tPA in the 3- to 4.5-hour window, and compared the outcomes of symptomatic intracranial hemorrhage (SICH), 3-month mortality, 3-month modified Rankin Scale (mRS) score 0-1 and 3-month mRS distribution between patients with both PS and DM (PS/DM, n=56) versus those with neither PS nor DM, or with only one (non-PS/DM, n=927). @*Results@#The PS/DM group versus the non-PS/DM group was more likely to have a prior disability, hypertension, hyperlipidemia, coronary heart disease and less likely to have atrial fibrillation. The PS/DM and the non-PS/DM groups had comparable rates of SICH (0% vs. 1.7%; p>0.999) and 3-month mortality (10.7% vs. 10.2%; p=0.9112). The rate of 3-month mRS 0-1 was non-significantly lower in the PS/DM group than in the non-PS/DM group (30.4% vs. 40.7%; adjusted odds ratio [95% confidence interval], 0.81 [0.41-1.59]). @*Conclusions@#In the 3- to 4.5-hour window, AIS patients with PS/DM, as compared to those with non-PS/DM, might benefit less from IV-tPA. However, given the similar risks of SICH and mortality, IV-tPA in the late time window could be considered in patients with both PS and DM.
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Despite the availability of direct-acting antivirals (DAAs) for chronic hepatitis C virus (HCV) infection in Korea, need remains for pangenotypic regimens that can be used in the presence of hepatic impairment, comorbidities, or prior treatment failure. We investigated the efficacy and safety of sofosbuvir–velpatasvir and sofosbuvir–velpatasvir–voxilaprevir for 12 weeks in HCV-infected Korean adults. Methods: This Phase 3b, multicenter, open-label study included 2 cohorts. In Cohort 1, participants with HCV genotype 1 or 2 and who were treatment-naive or treatment-experienced with interferon-based treatments, received sofosbuvir–velpatasvir 400/100 mg/day. In Cohort 2, HCV genotype 1 infected individuals who previously received an NS5A inhibitor-containing regimen ≥ 4 weeks received sofosbuvir–velpatasvir–voxilaprevir 400/100/100 mg/day. Decompensated cirrhosis was an exclusion criterion. The primary endpoint was SVR12, defined as HCV RNA < 15 IU/mL 12 weeks following treatment. Results: Of 53 participants receiving sofosbuvir–velpatasvir, 52 (98.1%) achieved SVR12. The single participant who did not achieve SVR12 experienced an asymptomatic Grade 3 ASL/ALT elevation on day 15 and discontinued treatment. The event resolved without intervention. All 33 participants (100%) treated with sofosbuvir–velpatasvir–voxilaprevir achieved SVR 12. Overall, sofosbuvir–velpatasvir and sofosbuvir–velpatasvir–voxilaprevir were safe and well tolerated. Three participants (5.6%) in Cohort 1 and 1 participant (3.0%) in Cohort 2 had serious adverse events, but none were considered treatment-related. No deaths or grade 4 laboratory abnormalities were reported. Conclusions: Treatment with sofosbuvir–velpatasvir or sofosbuvir–velpatasvir–voxilaprevir was safe and resulted in high SVR12 rates in Korean HCV patients.