Genetic Characteristics of Primary Cutaneous Malignant Melanoma in Koreans Compared With Western Populations.

BACKGROUND/AIM: Cutaneous melanoma, a melanocyte malignancy, can be divided into many clinical subtypes that differ in presentation, demographics, and genetic profile. In this study, we used next-generation sequencing (NGS) analysis to review genetic alterations in 47 primary cutaneous melanomas in the Korean population and compared them to alterations from melanomas in Western populations. PATIENTS AND METHODS: We retrospectively reviewed clinicopathologic and genetic features of 47 patients diagnosed with cutaneous melanomas between 2019-2021 at Severance Hospital, Yonsei University College of Medicine. NGS analysis was performed at diagnosis to evaluate single nucleotide variations (SNVs), copy number variations (CNVs), and genetic fusions. Genetic features in Western cohorts of melanoma were then compared with previous studies performed in the USA: Cohort 1 (n=556), Cohort 2 (n=79), and Cohort 3 (n=38). RESULTS: The most common histological classification of melanoma was the acral lentiginous type (23/47, 48.9%). BRAF V600 mutation was most frequent (11/47, 23.4%), but was significantly lower compared to Cohort 1 (240/556, 43.2%) and Cohort 2 (34/79, 43.0%) (p=0.0300). CNV analysis identified amplifications in chromosomes 12q14.1-12q15 (11/47, 23.4%) including CDK4 and MDM2 genes and 11q13.3 (9/47, 19.2%) including CND1, FGF19, FGF3, and FGF4 genes more frequently in the present study population than Cohort 1 (p<0.0001). CONCLUSION: These results clearly demonstrated differences in genetic alterations between melanomas in Asian and Western populations. Therefore, BRAF V600 mutation should be considered a significant signaling pathway explaining melanoma pathogenesis occurrence in both Asian and Western populations, whereas loss of chromosome 9p21.3 is unique to melanomas in Western populations.

Estudio cadavérico de anteversión de cuello femoral en Población de Indonesia / Cadaveric Study Of Femoral Neck Anteversion In Indonesian Population

Objective: The normal morphology of femoral anteversion is an essential factor which determines the clinical results of hip replacement to achieve the normal activity and the length of the replaced joint. No previous study has been documented regarding normal value of femoral anteversion in Indonesian population and how they are different with Western, India and African population. This study aimed on measurement of normal femoral anteversion values of Indonesian population and compare it with existing data of Western, African and India values. Method: This cross-sectional study by measuring the femoral neck anteversion angle in 120 samples of Indonesians's cadaveric femur. Comparisons were made between Western, African and India. Result: The result showed that the average values of femoral neck anteversion angle in men were 11.60 ± 4.83 and 12.96 ± 5.1 in the right and left parts respectively, while in women, the results were 14.83+-5.14 and 13.37+-5.66 in right and left parts. The p value of ≤ 0.05 was considered to be significant. Conclusion: The mean femoral anteversion values of Indonesian population is 13.22. It is significantly different in comparison with Western, African, and Indian population.

Dairy, soy, and risk of breast cancer: those confounded milks.

BACKGROUND: Associations between soy, dairy intakes and breast cancer risk are inconsistent. No studies exist with large numbers of dairy consumers and soy consumers to assess mutual confounding. METHODS: The study cohort contains 52 795 North American women, initially free of cancer, followed for 7.9 years (29.7% were Black). Dietary intakes were estimated from food frequency questionnaires and, for 1011 calibration study subjects, from six structured 24-h dietary recalls. Incident invasive breast cancers were detected mainly by matching with cancer registries. Analyses used multivariable proportional hazards regression. RESULTS: The participants (mean age of 57.1 years) experienced 1057 new breast cancer cases during follow-up. No clear associations were found between soy products and breast cancer, independently of dairy. However, higher intakes of dairy calories and dairy milk were associated with hazard ratios (HRs) of 1.22 [95% confidence interval (CI): 1.05-1.40] and 1.50 (95% CI 1.22-1.84), respectively, comparing 90th to 10th percentiles of intakes. Full fat and reduced fat milks produced similar results. No important associations were noted with cheese and yogurt. Substituting median intakes of dairy milk users by those of soy milk consumers was associated with HR of 0.68 (95% CI: 0.55-0.85). Similar-sized associations were found among pre- and post-menopausal cases, with CIs also excluding the null in estrogen receptor (ER+, ER-), and progesterone receptor (PR+) cancers. Less biased calibrated measurement-error adjusted regressions demonstrated yet stronger, but less precise, HRs and CIs that still excluded the null. CONCLUSIONS: Higher intakes of dairy milk were associated with greater risk of breast cancer, when adjusted for soy intake. Current guidelines for dairy milk consumption could be viewed with some caution.

The association between emotional eating and depressive symptoms: a population-based twin study in Sri Lanka.

This study investigated the genetic and environmental contributions to emotional overeating (EOE) and depressive symptoms, and their covariation, in a Sri-Lankan population, using genetic model-fitting analysis. In total, 3957 twins and singletons in the Colombo Twin and Singleton Study-Phase 2 rated their EOE behaviour and depressive symptoms, which were significantly associated (men: r = 0.11, 95% confidence interval (CI) 0.06-0.16, women: r = 0.12, 95% CI 0.07-0.16). Non-shared environmental factors explained the majority of variance in men (EOE e2 = 87%, 95% CI 78-95%; depressive symptoms e2 = 72%, 95% CI 61-83%) and women (EOE e2 = 76%, 95% CI 68-83%; depressive symptoms e2 = 64%, 95% CI 55-74%). Genetic factors were more important for EOE in women (h2 = 21%, 95% CI 4-32%) than men (h2 = 9%, 95% CI 0-20%). Shared-environmental factors were more important for depressive symptoms in men (c2 = 25%, 95% CI 10-36%) than women (c2 = 9%, 95% CI 0-35%). Non-shared environmental factors explained the overlap between depressive symptoms and EOE in women but not in men. Results differed from high-income populations, highlighting the need for behavioural genetic research in global populations.