Purpose: Metabolic syndrome (MetS) is a condition in which multiple risk factors interact in a complex manner. Considerable attention has been directed towards the potential genetic contributions to its diverse mechanisms. Understanding these contributions is essential for reducing MetS and other chronic diseases and developing effective prevention strategies.Therefore, this study analyzed the research trends in academic papers exploring genetic factors related to MetS and its components in Koreans and attempted to identify areas requiring additional research. Methods: The scoping review method was used to evaluate studies that utilized the secondary data sets comprising the Korean Genome and Epidemiology Study. Articles published over the past 15 years were identified using the Research Information Sharing Service, Korean Studies Information Service System, DBpia, PubMed, and ScienceDirect databases. Results: Forty-seven published articles from 2010 to 2024 were included in the review.Research on the genetic factors linked to MetS has expanded since 2019, indicating significant advances in the field. The research included 18 studies on the polygenic risk score (PRS)/genetic risk score (GRS), 17 studies on single nucleotide polymorphisms (SNPs), six studies on two or more genes, four studies on DNA methylation, and two studies on copy number variations (CNVs). In PRS/GRS research, seven studies focused on the genes related to diseases. In SNP research, four studies examined the FTO gene. Studies on two or more genes included two studies, each on the genes associated with diabetes and high-density lipoprotein cholesterol. For DNA methylation, three studies focused on the TXNIP gene. Finally, in CNV research, one study was conducted on the LEPR gene and one on genes for hypertension. Conclusion The relatively low proportion of studies on DNA methylation and CNV presents limitations in understanding their associations with MetS. Expanded research utilizing diverse approaches and genetic variables is needed to overcome these limitations.

Background and Objectives: Obstructive sleep apnea (OSA) has been associated with an increased risk of cancer in various organs. OSA is also linked to chronic inflammation in the biliary tract and pancreas, a well-established risk factor for carcinogenesis in these organs. However, its relationship with biliary tract and pancreatic cancers remains unclear and has been rarely investigated. Therefore, we aimed to evaluate whether OSA serves as an independent risk factor for these malignancies by analyzing a nationwide healthcare claims database in South Korea. Methods: A retrospective cohort study was conducted using the Korean National Health Insurance Service (KNHIS) database. Adults aged ≥20 years who were newly diagnosed with OSA (ICD-10: G47.30) between 2007 and 2014 were identified and propensity score-matched (1:5) with controls based on age, sex, and comorbidities. Individuals with pre-existing cancer diagnoses were excluded. The primary endpoints were the incidence of overall cancer, biliary tract cancer (C23–C24), and pancreatic cancer (C25). Cox proportional hazards regression models were used to calculate hazard ratios (HRs), adjusting for demographic and clinical factors. Results: A total of 1,191,444 individuals were included, comprising 198,574 patients diagnosed with OSA and 992,870 matched controls. OSA was associated with an increased overall cancer incidence (HR, 1.132; 95% confidence interval [CI], 1.097–1.169); however, it was not significantly associated with pancreatic cancer (HR, 0.941; 95% CI, 0.823–1.072) or biliary tract cancer (HR, 0.931; 95% CI, 0.751–1.142). Subgroup analyses stratified by sex and age revealed no statistically significant associations across these groups. Conclusion Our findings do not support OSA as an independent risk factor for biliary tract or pancreatic cancers.

Cavernous lymphangiomas, characterized by the cystic enlargement of lymphatic vessels in the dermis and subcutaneous tissue, are rarely reported in the scalp. We present the case of a 6-month-old male infant with occipital scalp swelling, whose ultrasonographic examination identified a multiseptated hypoechoic mass in the subcutaneous layer. Histologically, the tumor exhibited irregular, dilated spaces lined with a single layer of endothelial cells, showing D2-40 positivity. This represents a rare case of pediatric cavernous lymphangioma of the scalp, accompanied by a literature review.

Background: Quantitative computed tomography (QCT) is essential for assessing osteoporosis and monitoring spinal deformities. “Clari-QCT,” a software that uses artificial intelligence to analyze conventional computed tomography (CT) scans and produce QCTequivalent reports. This study aims to evaluate the effectiveness of Clari-QCT by comparing its results with traditional QCT, with the goal of validating new diagnostic tools for spinal deformities. Methods: The study analyzed dual energy X-ray absorptiometry, CT, and QCT data from 18 patients at Inha University Hospital. Clari-QCT software was evaluated for its ability to generate QCT-equivalent reports from CT images. The software processes abdomen CT images, calculates bone density in designated slices, and provides bone mineral density (BMD), T-score, and Z-score values. Patients were classified into normal, mild, and severe spinal deformity groups. Intraclass correlation coefficient (ICC) analysis was used to measure the agreement between actual and predicted BMD values. Results: The study included participants with an average age of 64 and a mean body mass index of 24.88. The average BMD was 94.7 g/cm³ by QCT and 122.5 g/cm³ by Clari- QCT, with individual differences ranging from 4.9 to 61.8. T-score discrepancies ranged from 0.16 to 6.86. ICC analysis showed moderate to high agreement between methods, with ICC1 values of 0.597, ICC2 of 0.64, ICC3 of 0.81, and ICC1k, ICC2k, ICC3k values ranging from 0.748 to 0.895. Conclusions Clari-QCT demonstrates good agreement with actual QCT measurements in normal and severe spinal deformity groups but shows reduced accuracy in patients with mild deformities. If the limitations are addressed, it could become a useful tool for monitoring bone health in patients with spinal deformities.

Purpose: This network meta-analysis aimed to evaluate the relative efficacy of systemic treatments in patients with relapsed/refractory chronic lymphocytic leukemia (R/R CLL), focusing on key genetic mutations, specifically the 17p deletion and TP53 mutations. Methods: We conducted a systematic literature review to identify all publicly available randomized controlled trials (RCTs) using PubMed, EMBASE, the Cochrane database, and meeting abstracts published through December 2023.A Bayesian network meta-analysis was performed to estimate the hazard ratios (HRs) for progression-free survival (PFS) with 95% confidence intervals (CIs) and to determine the ranking of the included regimens. Results: Twelve trials involving 4,437 patients and 13 treatment options were included in the meta-analysis. Venetoclax plus rituximab and zanubrutinib emerged as the most effective treatments for the overall R/R CLL population, showing the lowest PFS HR (HR 0.62, 95% CI 0.32–1.20 and HR 0.65, 95% CI 0.49–0.86, respectively) versus ibrutinib, and were ranked as the best agent (surface under the cumulative ranking curve [SUCRA] value of both 90%, respectively) among the included drugs. In the 17p deletion/TP53 mutation subgroup, zanubrutinib demonstrated the most favorable efficacy (HR 0.52, 95% CI 0.31–0.88 versus ibrutinib) with the highest SUCRA value (97%). In patients without these mutations, venetoclax plus rituximab was the most effective (HR 0.49, 95% CI 0.26–0.94 versus ibrutinib) with a SUCRA value of 94%. Conclusion Our findings highlight the superior efficacy of venetoclax plus rituximab and zanubrutinib for treating R/R CLL and confirm that the role of each regimen may vary depending on the clinically significant mutations.

Since the cortico-cortical evoked potential (CCEP) was first introduced in 2004, CCEP monitoring has been utilized in various types of brain surgery to achieve maximal safe resection (MSR). MSR is the primary goal in improving the prognosis of glioma; however, this is particularly challenging when the tumor is located around eloquent areas. Since the complexity of the language network system makes it more difficult to achieve MSR, language area mapping is essential when tumors are located around these areas. Awake surgery has been the gold standard for intraoperative language area mapping.However, awake craniotomy is not always feasible due to various clinical and patient-related factors.CCEP monitoring has emerged as a promising alternative for intraoperative language function assessment under general anesthesia to overcome the limitations of awake surgery. This review aims to summarize the current evidence on CCEP-guided surgery, focusing on its effectiveness in preserving language function.

Correspondence to editorial on “Optimal cutoffs of vibration-controlled transient elastography and magnetic resonance elastography in diagnosing advanced liver fibrosis in patients with nonalcoholic fatty liver disease: A systematic review and meta-analysis”

Objective: To comprehensively assess the relationship between nerve conduction study (NCS), sympathetic skin response (SSR), and demographic factors in patients with diabetic neuropathy, exploring potential risk factors and mechanisms. Methods: A retrospective study (N=184) included patients diagnosed with type 2 diabetes mellitus undergoing NCS and SSR. Demographic, clinical, and laboratory data were analyzed. Patients were categorized by diabetic peripheral neuropathy (DPN) and SSR stages for comparative analysis. Results: HbA1c levels correlated with DPN progression. SSR stages exhibited age-related differences. Height correlated with DPN but not SSR stages. Body mass index showed no significant differences. Conclusion While DPN progression correlated with glycemic control and duration of diabetes, SSR was influenced by age. Unexpectedly, cholesterol levels remained within the normal range, challenging established concepts. Understanding these relationships is crucial for interpreting test results and developing targeted interventions for diabetic neuropathy.