Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world. Materials and Methods: We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis. Results: NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs. Conclusion Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.

Purpose: Although the combination of androgen deprivation therapy with docetaxel or abiraterone acetate and prednisone has become a standard treatment for metastatic hormone-sensitive prostate cancer (mHSPC) and has shown improved overall survival, a subset of patients still progress to castration-resistant disease. However, the underlying molecular features in these patients remain poorly understood. Materials and Methods: We performed single-cell RNA sequencing (scRNA-seq) on 12 tissue samples, including 2 mHSPC samples, 7 primary prostate cancer (PCa) samples, and 3 matched normal samples from 7 patients. Raw sequencing data was processed by Cell Ranger software (10X Genomics) and aligned to the human reference genome (GRCh38). A comprehensive analysis of samples from patients with mHSPC was also conducted and validated using a cohort of 52 patients with mHSPC. Results: Our results identified distinct subpopulations within luminal and mononuclear phagocyte (MNP) clusters characterized by proliferative activation associated with unfavorable clinical outcomes. Furthermore, we observed that the MNP cluster exhibited significant proliferation activity. To understand the underlying mechanisms associated with aggressiveness, we conducted cell-cell interaction, copy number variation and pseudotime analysis. Utilizing 87 network genes from scRNA-seq, we classified 52 mHSPC patients into 2 molecular subtypes and demonstrated their correlation with distinct transcriptomic profiles and survival outcomes. Importantly, a 14-gene signature derived from 3 distinct gene sets exhibited a strong association with patient survival and drug response. The prognostic value of our findings was further validated in large-scale cohorts comprising localized PCa, metastatic PCa, mHSPC, and metastatic castration-resistant PCa patients. Conclusion This study provides valuable insights into the identification of high-risk patients, novel biomarkers, and potential therapeutic targets for individuals with mHSPC. Furthermore, the results in this study can serve as a basis for future investigations aimed at refining prognostic strategies and developing targeted therapies for patients with mHSPC.

Obstructive sleep apnea (OSA) is a disorder driven by a combination of anatomical and functional factors. A narrow upper airway, fatty deposits around the tongue, and enlarged soft tissues all contribute to airway collapse. Additionally, reduced neuromuscular activity during sleep and increased instability in respiratory control heighten the risk of airway obstruction. OSA is linked to serious health problems, including metabolic disorders, cardiovascular diseases, and excessive daytime sleepiness, underscoring the importance of early diagnosis and treatment. Diagnosis is typically made through polysomnography, and continuous positive airway pressure therapy remains the most effective treatment.For individuals with mild to moderate OSA, oral appliance therapy offers a viable alternative, while emerging treatments such as hypoglossal nerve stimulation and pharmacological interventions provide additional options. By identifying distinct OSA phenotypes, personalized treatment approaches can be developed, and future research should focus on optimizing these strategies to meet the specific needs of individual patients.

Purpose: To evaluate how a family history of prostate cancer influences the progression of the disease in individuals with prostate cancer undergoing active surveillance. Materials and Methods: We conducted a thorough literature search in PubMed/MEDLINE, Embase, and Cochrane Library up to June 2023. This systematic review was registered in PROSPERO (CRD42023441853). The study evaluated the effects of family history of prostate cancer (intervention) on disease progression (outcome) in prostate cancer patients undergoing active surveillance (population) and compared them to those without a family history (comparators). For time to disease progression outcomes, the extracted data were synthesized using the inverse variance method on the log hazard ratios scale. Results: A total of eight studies were incorporated into this systematic review and meta-analysis. The combined hazard ratio for unadjusted disease progression was 1.06 (95% confidential interval [CI] 0.66–1.69; p=0.82). The combined hazard ratio for adjusted disease progression was 1.31 (95% CI 1.16–1.48; p<0.0001). All the enlisted studies demonstrated high quality based on the Newcastle–Ottawa scale. The certainty of evidence for univariate and multivariate analysis of disease progression was very low and low, respectively. Publication bias for all studies was not significant. Conclusions For individuals with prostate cancer opting for active surveillance, a family history of prostate cancer may serve as an independent risk factor associated with an elevated risk of disease progression. Clinicians should be counseled about the increased risk of disease progression in patients with a family history of prostate cancer undergoing active surveillance.

Purpose: The aims were to investigate potential differences in clinical assessments among acute pain-related temporomandibular disorder (TMD) with different concordance value (CV) between number of self-reported painful site (NSP) and number of painful sites on palpation (NPP), and if it makes sense to treat them differently. Methods: A total of 61 patients were divided into three groups according to CV: 10 patients (concordance poor [CP]), 19 patients (concordance moderate [CM]), and 32 patients (concordance high [CH]). Clinical assessments were conducted using a standardized method in diagnostic criteria for temporomandibular disorders (DC/TMD). We compared collected information including sex, diagnosis, numerical rating scale (NRS), NPP, NSP, sleep duration, DC/TMD Axis II questionnaire, and perceived stress scale among three groups. Results: Among the clinical assessment, NRS, sleep duration, NPP, NSP, total scores of Oral Behaviors Checklist, Patient Health Questionnaire (PHQ)-15, PHQ-9 showed significant differences among 3 groups. NRS, NPP, NSP, PHQ-15, and PHQ-9 were higher in the CP group than in the CM and CH groups. Sleep duration was positively and NPP, NRS were negatively correlated with CV. Conclusions While previous studies suggested differences between chronic and acute TMD in DC/TMD items, our findings propose the CV might be a key factor that could predict the severity and susceptibility of acute-TMD patients. However, Additional studies are required to determine whether their long-term prognosis was similar to that of chronic pain patients and what the response to treatment was among the three groups.

Background: Primary cicatricial alopecia (PCA) is a rare disease that causes irreversible destruction of hair follicles and affects the quality of life (QOL). Objective: We aimed to investigate the disease awareness, medical use behavior, QOL, and real-world diagnosis and treatment status of patients with PCA. Methods: A self-administered questionnaire was administered to patients with PCA and their dermatologists. Patients aged between 19 and 75 years who visited one of 27 dermatology departments between September 2021 and September 2022 were included. Results: In total, 274 patients were included. The male-to-female ratio was 1:1.47, with a mean age of 45.7 years. Patients with neutrophilic and mixed PCA were predominantly male and younger than those with lymphocytic PCA. Among patients with lymphocytic PCA, lichen planopilaris was the most common type, and among those with neutrophilic PCA, folliculitis decalvans was the most common type. Among the total patients, 28.8% were previously diagnosed with PCA, 47.0% were diagnosed with PCA at least 6 months after their first hospital visit, 20.0% received early treatment within 3 months of disease onset, and 54.4% received steady treatment. More than half of the patients had a moderate to severe impairment in QOL. Topical/intralesional steroid injections were the most common treatment. Systemic immunosuppressants were frequently prescribed to patients with lymphocytic PCA, and antibiotics were mostly prescribed to patients with neutrophilic PCA. Conclusion This study provides information on the disease awareness, medical use behavior, QOL, diagnosis, and treatment status of Korean patients with PCA. This can help dermatologists educate patients with PCA to understand the necessity for early diagnosis and steady treatment.

Background: Although it is known that a substantial proportion of the population experience loneliness, the consequence of loneliness remains unclear by countries and ages.Accordingly, this study aimed to assess the association between loneliness and suicidality in the general population of Korea.Method: A total of 5,511 Koreans aged 18–79 completed a tablet-assisted personal interview using the Korean version of the Composite International Diagnostic Interview and responded to questions about loneliness and lifetime suicidal ideation, plans, and attempts. A logistic regression analysis was used to examine the association between loneliness and suicidality. Results: Approximately one-third of the Korean general population reported loneliness.Being older, never married, widowed, separated, or divorced, unemployed, and having a parttime job were all significantly related to loneliness. After adjusting for sociodemographic factors, individuals with loneliness were significantly associated with increased suicidal ideation (adjusted odd ratio [aOR], 4.05; 95% confidence interval [CI], 3.36–4.88), suicidal plans (aOR, 4.91; 95% CI, 3.34–7.21), and suicidal attempts (aOR, 4.82; 95% CI, 3.03–7.66). Even after adjusting for sociodemographic factors and mental disorders, suicidality remained statistically significant. Moreover, frequent, moderate-to-severe, and long-term loneliness were all associated with increased ORs for suicidality, regardless of sociodemographic factors and mental disorders. Conclusion Loneliness was associated with suicidal ideation, plans, and attempts. This study lays the foundation for public health policymakers to establish early intervention and mental health care support for lonely people.

Background: and PurposeThis study aimed to determine the updated 10-year prevalence of Huntington’s disease (HD) in South Korea and the medical and economic burdens across the duration of the disease. Methods: Data from the National Health Insurance database during 2010–2019 were analyzed. We identified HD cases using predefined criteria. Information on age at diagnosis, sex, and common nonneurological comorbidities were collected. We analyzed individual patterns of the use of medical services and yearly medical expenditure. Incidence rates, 10-year prevalence rates, and longitudinal medical expenditure changes were assessed. Results: New patients with HD (average=152.10) were detected every year, with an annual incidence of 0.29 per 100,000. The estimated 10-year prevalence of HD was 2.2 per 100,000. The most common ages at the time of diagnosis were 50–59 years (23.3%). In 2019, 56.4% of patients with HD were followed-up at referral or general hospitals, and 32.2% were managed at long-term-care hospitals. The annual medical cost for an individual was KRW 6,569,341±895,097 (mean±SD) (mean≈USD 5,653). Medical expenditure was the highest in those aged 60–79 years, and lowest in those younger than 30 years. However, in all age groups, the annual medical expenditure was highest during the 9 years following a diagnosis. Conclusions This study found that the actual prevalence of HD in South Korea was higher than previously thought and that patients are in a situation with high medical expenditure that persists over time.