Journal of Korean Medical Science最新文献

Background: The retinoblastoma (RB) protein which is encoded by RB gene selectively provides a cell type-specific function in malignancies. In colorectal carcinoma, RB has been highly expressed and related cyclin/cyclin-dependent kinase 4/6 inhibitors have shown improved therapeutic effects in some patients. However, little is known about RB in small intestinal adenocarcinoma (SIAC).

Methods: Here, we conducted a multi-institutional study of RB expression in 229 surgically resected SIACs to explore the clinicopathologic and prognostic implications and the relationship with microsatellite instability (MSI) status and KRAS mutations.

Results: High RB expression (RB^High) was more commonly observed in SIACs (76/229, 33%) than in normal small intestinal mucosa (27/188, 14%; P < 0.001). RB^High was associated with nodular growth patterns (P = 0.028), the absence of lymphovascular (P = 0.001) and perineural invasion (P = 0.048), and a lower T category (P = 0.042) and indicated better overall survival (P = 0.003). In multivariate analysis, RB^High (P = 0.049) was an independent prognostic predictor of better prognosis, along with younger patient age (P = 0.049), the absence of retroperitoneal seeding (P = 0.004), lower tumor stage (P < 0.001), and MSI (P = 0.005). The prognostic impact of RB expression was consistently observed regardless of MSI status and specifically persistent in SIACs with lower stages (stages I and II).

Conclusion: RB^High was related to favorable clinicopathologic SIAC characteristics and indicated better patient prognosis. The prognostic predictability of RB was found in SIACs with lower stages, independent of MSI status. RB expression is a reliable and potent prognostic indicator for SIAC and may aid in selecting chemotherapy for patients.

Background: Hypertrophic cardiomyopathy (HCM) needs careful differentiation from other cardiomyopathies. Current guidelines recommend genetic testing, but genetic data on differential diagnoses and their relation with clinical outcomes in HCM are still lacking. This study aimed to investigate the prevalence of genetic variants and the proportion of other cardiomyopathies in patients with suspected HCM in Korea and compare the outcomes of HCM according to the presence of sarcomere gene mutation.

Methods: We enrolled 1,554 patients with suspected HCM having left ventricular hypertrophy on transthoracic echocardiography between April 2012 and February 2023. Patients who declined genetic testing or who had pure apical HCM without a familial history were excluded. Genetic testing was performed using a next-generation sequencing panel or whole-exome sequencing for cardiomyopathies. We performed cardiovascular magnetic resonance if the diagnosis was inconclusive. Genotype-positive HCM was defined as sarcomere gene mutations of pathogenic or likely pathogenic variants. Adverse clinical outcomes were defined as a composite of all-cause death, resuscitated cardiac arrest, heart failure-related admission, appropriate implantable cardioverter defibrillator shocks, and stroke.

Results: Of 492 patients (mean age 49.6 ± 14.7 years, 29.4% women) who underwent genetic testing, 214 (43.5%) had disease-causing gene mutations. After combining gene tests, multi-imaging modality, and clinical information, 447 (90.9%) had HCM, and 27 (5.5%) had Fabry disease. Among the HCM patients, 182 (40.7%) were genotype-positive, and 265 (59.3%) were genotype-negative. Kaplan-Meier curve analysis showed that genotype-positive HCM patients experienced more composite outcomes (log-rank, P < 0.001). In multivariable Cox analysis, non-sustained ventricular tachycardia (NSVT) (hazard ratio [HR], 1.91; 95% confidence interval [CI], 1.17-3.12; P = 0.010), left ventricular ejection fraction (LVEF) < 50% (HR, 5.50; 95% CI, 2.68-11.27; P < 0.001), LA reservoir strain (HR, 0.96; 95% CI, 0.93-0.99; P = 0.037), and positive sarcomere gene mutation (HR, 1.70; 95% CI, 1.04-2.78; P = 0.034) were significantly association with composite outcomes. Sarcomere gene mutation had incremental value for predicting adverse outcomes added on NSVT and LVEF < 50%.

Conclusion: Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes.

Background: This study aimed to investigate the epidemiological characteristics and outcomes of myocarditis/pericarditis after BNT162b2 vaccination in Korean adolescents.

Methods: This was a retrospective cohort analysis of adolescents aged 12-19 years old diagnosed with myocarditis/pericarditis within 42 days of BNT162b2 mRNA vaccination. All reported cases were investigated by city or government epidemiologists and the diagnostic certainty and causality was determined by the Korea Disease Control and Prevention Agency's Adverse Event Following Immunization Expert Advisory Committee according to the modified version of Brighton Collaboration Myocarditis/Pericarditis Working group's case definitions.

Results: A total 3,709,063 adolescents aged 12-19 received 8,135,240 doses of the BNT162b2 vaccine in South Korea, and 184 cases met the Brighton criteria for the case definition of myocarditis and pericarditis with diagnostic certainty of possible and above. The median age was 17 years old (interquartile range [IQR], 15-18) and boys accounted for 81.5% (n = 150/184) of the cases. The overall incidence was 2.25 (95% confidence interval [CI], 1.94-2.60) cases per 100,000 doses and severe cases was 0.25 (95% CI, 0.15-3.80) cases per 100,000 doses. The highest incidence rate was observed in boys after the second dose, with 5.01 (95% CI, 4.12-6.17) cases per 100,000 doses. A total 89.1% (164/184) were classified as mild, and no deaths were reported.

Conclusion: The highest incidence of myocarditis/pericarditis after BNT162b2 immunization was observed in male adolescents after the second dose, with majority of the cases presenting with a mild clinical course and favorable outcome.

Background: We aimed to investigate the characteristics of pediatric ulcerative colitis (UC) at diagnosis in Korea.

Methods: This was a multicenter, registry-based, inception cohort study conducted in Korea between 2021 and 2023. Children and adolescents newly diagnosed with UC < 18 years were included. Baseline clinicodemographics, results from laboratory, endoscopic exams, and Paris classification factors were collected, and associations between factors at diagnosis were investigated.

Results: A total 205 patients with UC were included. Male-to-female ratio was 1.59:1, and the median age at diagnosis was 14.7 years (interquartile range 11.9-16.2). Disease extent of E1 comprised 12.2% (25/205), E2 24.9% (51/205), E3 11.2% (23/205), and E4 51.7% (106/205) of the patients. S1 comprised 13.7% (28/205) of the patients. The proportion of patients with a disease severity of S1 was significantly higher in patients with E4 compared to the other groups (E1: 0% vs. E2: 2% vs. E3: 0% vs. E4: 24.5%, P < 0.001). Significant differences between disease extent groups were also observed in Pediatric Ulcerative Colitis Activity Index (median 25 vs. 35 vs. 40 vs. 45, respectively, P < 0.001), hemoglobin (median 13.5 vs. 13.2 vs. 11.6 vs. 11.4 g/dL, respectively, P < 0.001), platelet count (median 301 vs. 324 vs. 372 vs. 377 × 10³/μL, respectively, P = 0.001), C-reactive protein (median 0.05 vs. 0.10 vs. 0.17 vs. 0.38 mg/dL, respectively, P < 0.001), and Ulcerative Colitis Endoscopic Index of Severity (median 4 vs. 4 vs. 4 vs. 5, respectively, P = 0.006). No significant differences were observed in factors between groups divided according to sex and diagnosis age.

Conclusion: This study represents the largest multicenter pediatric inflammatory bowel disease cohort in Korea. Disease severity was associated with disease extent in pediatric patients with UC at diagnosis.

Trial registration: Clinical Research Information Service Identifier: KCT0008723.

Background: We aimed to analyze the epidemiology, clinical characteristics, and outcomes of malaria caused by Plasmodium vivax among military members of the Republic of Korea (ROK).

Methods: We reviewed the medical records of patients diagnosed with P. vivax malaria in 16 military hospitals in the ROK between 2012-2021, excluding other types of malaria, as well as imported cases and those treated in civilian hospitals.

Results: In total, 653 patients were treated for P. vivax malaria. Their mean age was 22.0 ± 3.8 years, and their mean body weight was 73.4 ± 10.8 kg. Hospitalization occurred in 92.0% (n = 601) of the cases, with 4.4% (n = 29) recurring. The mean administered dose was 20.7 ± 3.4 mg/kg for the chloroquine (CQ) base and 3.5 ± 1.2 mg/kg for the primaquine (PQ) base. Between 2012-2016 and 2017-2021, the mean patient body weight increased (72.9 ± 11.1 vs. 74.3 ± 10.3 kg, P = 0.044). Correspondingly, the total administered doses of CQ (1,476.0 ± 144.0 vs. 1,515.1 ± 155.1 mg, P = 0.010) and PQ (242.6 ± 79.7 vs. 265.7 ± 92.3 mg, P < 0.001) were increased. However, there was no difference in the weight-based dosage of CQ (20.7 ± 3.6 vs. 20.7 ± 3.2 mg/kg, P = 0.580) or PQ (3.33 ± 1.1 vs. 3.64 ± 1.3 mg/kg, P = 0.256), nor in the percentage of patients who received sub-recommended doses. Among the 27 patients who experienced recurrence and had available initial treatment data, the proportion of those prescribed PQ (24 [88.9%] vs. 623 [99.5%], P = 0.001) and the mean PQ dose (2.75 ± 0.7 vs. 3.50 ± 1.2 mg/kg, P = 0.003) were significantly lower in the recurrence group.

Conclusion: Over time, as the body weight of patients with P. vivax malaria in the ROK military has increased, the administered dosages of CQ and PQ have correspondingly risen. However, these dosages often remain suboptimal when compared to the body weight-based recommendations by the World Health Organization. Of particular concern is the continued administration of antimalarial drugs at suboptimal doses, which may contribute to an elevated risk of recurrence. Further education may therefore be beneficial to ensuring appropriate dosing for more effective malaria treatment.

Survey studies are valuable tools that can quickly and cost-effectively collect data from diverse populations across different cultures and locations. When conducted across multiple countries, careful translation and cross-cultural adaptation are necessary to maintain the validity and reliability of the findings. This point is particularly important for patient-facing questionnaires, especially in fields like psychology and sexual medicine. Translation to other languages also helps the researchers reach a more diverse and broader sample, which enables the generalizability of the findings/conclusions. An accurate translation would ensure higher response rates. Careful and rigorous selection of translators, following a translation guideline, ensuring sufficient time for the translation process, using a checklist, and quality assessment following translation can increase the accuracy of the translation. At each step, the specific field of the questionnaire should be taken in consideration. The objective of this article is to underscore the necessity of translation and cross-cultural adaptation in survey studies, as well as to discuss the methods to combat against challenges experienced in the translation process.

Background: Precautionary allergen labeling (PAL) is mandatory and legally regulated in Korea. This study aims to investigate the frequency of PAL use in food products, evaluate its competence, and seek direction for improvement.

Methods: Cow's milk (CM) and hen's egg white (EW) protein concentrations were measured using an enzyme-linked immunosorbent assay (ELISA). The results validated PAL using the Voluntary Incidental Trace Allergen Labeling^® 3.0 program. A survey was conducted on guardians to compare preferences and understanding of the current and the arbitrarily revised PAL.

Results: PAL was used in 91.8% (280/305) of baby food products. ELISA results using randomly selected baby food products showed that only 16.7% (5/30; No PAL with no contamination, n = 4; PAL with real-contamination risk, n = 1) were validated to PAL. A detectable CM was found in two products (2/26, 7.7%), with one product exceeding the reference dose (10.3 ± 0.17 ppm). EW was not detected at all (0/16). A total of 207 surveys from guardians were collected and categorized into three groups: food allergy (FA, n = 103), diseases other than food allergies (Others, n = 52), and no disease (Control, n = 52). The FA group exhibited the highest frequency of checking food allergen labeling ("always": 78.6%, "often": 9.7%), with a similar PAL adherence ("always": 58.3%, "often": 10.4%). None of the groups were satisfied with the current PAL. The 'allergen-free' statement was mostly preferred across all groups. The FA group notably preferred PAL with concentration statements.

Conclusion: PAL is excessively prevalent and insufficient in ensuring the safety of children with FAs, necessitating a revision towards a more patient-friendly, evidence-based system for affected individuals and their families.