Identifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population. Methods: We conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel. Results: A total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Among the typical ADPKD cases, the Mayo imaging classification was as follows: 1A (55, 9.9%), 1B (149, 26.6%), 1C (198, 35.8%), 1D (90, 16.3%), and 1E (61, 11.0%). The atypical PKD cases were classified as bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (nine, 10.8%), segmental (eight, 9.6%), bilateral cystic with unilateral atrophic (seven, 8.4%), and asymmetric (one, 1.2%). Pathogenic variants were found in 64.3% of the patients using the ciliopathy-related targeted gene panel. The typical ADPKD group demonstrated a higher discovery rate (62.3%) than the atypical PKD group (41.8%). Conclusion: We present a nationwide genetic cohort’s baseline clinical and genetic characteristics for Korean cystic kidney disease.

Objectives: This study analyzed the decline in quality of life according to age in the chronic disease patient group, quantified it as a quantitative index, and compared it by sex and chronic disease. Methods: In the 2017-2019 Korea National Health and Nutrition Examination Survey database, 11,473 adults aged 19 years or older, excluding cancer patients, were analyzed for age-specific changes in the EQ-5D Index by chronic disease. The decline in quality of life according to age in patients with chronic diseases was analyzed by linear regression analysis while controlling for general characteristics. Then, linear regression analysis was performed according to sex. Results: In the case of the control group, the quality of life decreased by 0.0004 for every 1-year increase in age(P<0.001). By chronic disease, asthma(β=0.0019, P<0.001), arthritis(β=0.0017, P=0.002), thyroid disease(β=0.0016, P=0.015), dyslipidemia(β=0.0011, P=0.020), and hypertension(β=0.0009, P=0.027) mostly showed a greater decrease in quality of life than the control group. In addition, when divided into two groups by sex, hypertension(β=0.0012, P=0.029), thyroid disease(β=0.0041, P=0.038), and arthritis(β=0.0022, P<0.001) showed a significant decrease in quality of life only in male. Diabetes(β=0.0056, P=0.038), dyslipidemia(β=0.0022, P=0.001) significantly decreased quality of life only in female. Conclusions Chronic disease had a negative impact on patients perception of quality of life, and the more severe the pain and activity limitation due to the chronic disease, the more severe it was. It also showed different patterns according to sex. Therefore, it is necessary to allocate more medical resources and provide policy support to prevent chronic diseases, which are serious social problems.

OBJECTIVES: We estimated the population prevalence of antibodies to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), including unreported infections, through a Korea Seroprevalence Study of Monitoring of SARS-CoV-2 Antibody Retention and Transmission (K-SEROSMART) in 258 communities throughout Korea. METHODS: In August 2022, a survey was conducted among 10,000 household members aged 5 years and older, in households selected through two stage probability random sampling. During face-to-face household interviews, participants self-reported their health status, COVID-19 diagnosis and vaccination history, and general characteristics. Subsequently, participants visited a community health center or medical clinic for blood sampling. Blood samples were analyzed for the presence of antibodies to spike proteins (anti-S) and antibodies to nucleocapsid proteins (anti-N) SARS-CoV-2 proteins using an electrochemiluminescence immunoassay. To estimate the population prevalence, the PROC SURVEYMEANS statistical procedure was employed, with weighting to reflect demographic data from July 2022. RESULTS: In total, 9,945 individuals from 5,041 households were surveyed across 258 communities, representing all basic local governments in Korea. The overall population-adjusted prevalence rates of anti-S and anti-N were 97.6% and 57.1%, respectively. Since the Korea Disease Control and Prevention Agency has reported a cumulative incidence of confirmed cases of 37.8% through July 31, 2022, the proportion of unreported infections among all COVID-19 infection was suggested to be 33.9%. CONCLUSIONS The K-SEROSMART represents the first nationwide, community-based seroepidemiologic survey of COVID-19, confirming that most individuals possess antibodies to SARS-CoV-2 and that a significant number of unreported cases existed. Furthermore, this study lays the foundation for a surveillance system to continuously monitor transmission at the community level and the response to COVID-19.

There are limited data on the impact of diabetes control on the risk of subclinical coronary atherosclerosis.

Purpose: Patients who undergo radical surgery for rectal cancer often experience low anterior resection syndrome (LARS). Symptoms of this syndrome include frequent bowel movements, gas incontinence, fecal incontinence, fragmentation, and urgency. The aim of this study was to investigate the convergent validity, discriminative validity, and reliability of the Korean version of the LARS score questionnaire. Methods: The English LARS score questionnaire was translated into Korean using the forward-and-back translation method. A total of 146 patients who underwent radical surgery for rectal cancer answered the Korean version of the LARS score questionnaire including an anchor question assessing the impact of bowel function. Participants answered the questionnaire once more after 2 weeks. Results: The Korean LARS score questionnaire showed high convergent validity in terms of high correlation between the LARS score and quality of life (perfect fit 55.5% vs. moderate fit 37.6% vs. no fit 6.8%, respectively; P < 0.001). The LARS score also showed good discriminative validity between groups of patients differing by sex (29 for males vs. 25 for females; P = 0.014), tumor level (29 for ≤8 cm vs. 24 for >8 cm; P = 0.021), and radiotherapy (32 for yes vs. 24 for no; P = 0.001). The LARS score also demonstrated high reliability at test-retest with no difference between scores at the first and second tests (intraclass correlation coefficient: Q1 = 0.932; Q2 = 0.909, Q3 = 0.944, Q4 = 0.931, and Q5 = 0.942; P < 0.001, respectively). Conclusion The Korean version of the LARS score questionnaire has proven to be a valid and reliable tool for measuring LARS in Korean patients with rectal cancer.

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.
Asian Continental Ancestry Group ; Atrophy ; Brain ; Ceroid ; Child ; Female ; Humans ; Lysosomes ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neurodegenerative Diseases ; Neuronal Ceroid-Lipofuscinoses ; Neurons ; Seizures ; Vision Disorders

PURPOSE: This study compared the oncologic results of docetaxel chemotherapy (DOC) in castration-resistant prostate cancer (CRPC) according to continuous addition of androgen deprivation therapy (ADT) during chemotherapy. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 106 patients who received DOC in 6 medical institutes. Among them, 72 patients had a complete medical record: 28 patients with ADT (DOC+continuous ADT group) and 44 without ADT (DOC only group). We compared the progression-free survival of these groups after DOC. RESULTS: Docetaxel was administered an average of 28 months after primary ADT as the first treatment. A median number of 6 cycles of DOC was administered in both groups. In the DOC+continuous ADT group, orchiectomy was performed in 18 patients and luteinizing hormone-releasing hormone agonist was injected in 10 patients. During DOC treatment, prostate-specific antigen (PSA) progression-free survival was statistically different (6.0±4.75 months in DOC+continuous ADT group vs. 4.8±3.2 months in DOC only group, p=0.024), whereas radiologic progression-free survival was not statistically different (5.0±3.12 months in DOC+continuous ADT group vs. 5.0±2.79 months in DOC only group, p=0.387). CONCLUSIONS: In our cohort, continuous addition of ADT showed a significant benefit in PSA progression-free survival during DOC in CRPC patients. Further prospective studies are needed to confirm these observations.
Academies and Institutes ; Cohort Studies ; Disease-Free Survival ; Drug Therapy* ; Gonadotropin-Releasing Hormone ; Humans ; Medical Records ; Orchiectomy ; Prospective Studies ; Prostate* ; Prostate-Specific Antigen ; Prostatic Neoplasms* ; Retrospective Studies

Our previous work has identified miR-125b as a negative regulator of melanogenesis. However, the specific melanogenesis-related genes targeted by this miRNA had not been identified. In this study, we established a screening strategy involving three consecutive analytical approaches—analysis of target genes of miR-125b, expression correlation analysis between each target gene and representative pigmentary genes, and functional analysis of candidate genes related to melanogenesis—to discover melanogenesis-related genes targeted by miR-125b. Through these analyses, we identified SRC homology 3 domain-binding protein 4 (SH3BP4) as a novel pigmentation gene. In addition, by combining bioinformatics analysis and experimental validation, we demonstrated that SH3BP4 is a direct target of miR-125b. Finally, we found that SH3BP4 is transcriptionally regulated by microphthalmia-associated transcription factor as its direct target. These findings provide important insights into the roles of miRNAs and their targets in melanogenesis.
Computational Biology ; Mass Screening ; Microphthalmia-Associated Transcription Factor ; MicroRNAs ; Pigmentation*

BACKGROUND: This study evaluated the continuous abstinence rates from smoking at 12-month after a hospital-based smoking cessation program was applied for smokers hospitalized for acute myocardial infarction. METHODS: Among those who are hospitalized for acute myocardial infarction from January 2012 to December 2013, ninety-eight smokers agreed to quit smoking were eligible for follow up to 12 months. Each of them underwent six consecutive sessions (first during admission, the other 5 sessions after discharge) of behavioral modification, counseling for withdrawal symptoms, and anti-smoking advices by a trained nurse. Exhaled carbon monoxide measurements less than 6 ppm were used to confirm the smoking cessation status of each participant. RESULTS: Mean age of all participants was 55.2±10.8 years old, and their continuous abstinence rates at 1, 3, 6, 12 months were 63.3%, 49.0%, 43.9%, and 37.8% for each. The continuous abstinence rate from smoking after 12 months was 69.7% and significantly higher in those who completed the 6 sessions than 21.5% in those who completed 5 sessions or less (P<0.001). After adjustment for general and smoking-related characteristics, multivariate logistic regression analysis revealed that full participation relative to 5 or less participation was significantly associated with higher continuous abstinence rate from smoking at 12 months (odds ratio: 7.96; 95% confidence interval: 2.07-30.55). CONCLUSIONS: The consistency of participating in a hospital-based smoking cessation program, described herein, significantly improved success rates of smoking cessation in patients discharged after acute myocardial infarction. Hospital-based smoking cessation program based on education and counseling should be included as an important part of patient management for acute myocardial infarction.
Carbon Monoxide ; Counseling ; Education ; Follow-Up Studies ; Humans ; Logistic Models ; Myocardial Infarction* ; Smoke* ; Smoking Cessation* ; Smoking* ; Substance Withdrawal Syndrome

Spindle cell/pleomorphic lipoma is an uncommon benign adipose tissue tumor most frequently arising from the subcutaneous tissue of the back, shoulder, head and neck, and extremities. The deep cervical spaces are the rarely affected locations. Herein we report on the imaging findings of spindle cell/pleomorphic lipoma involving the retropharyngeal space in an elderly woman.
Aged ; Female ; Humans ; Lipoma/*pathology/ultrasonography ; Pharyngeal Neoplasms/*pathology/ultrasonography