Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants. Methods: This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines. Results: A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040). Conclusion The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

OBJECTIVES: Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption. METHODS: A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys. RESULTS: Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively). CONCLUSIONS Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.

Objective: This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers. Methods: From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups. Results: Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly. Conclusion HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants. Methods: This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines. Results: A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040). Conclusion The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

OBJECTIVES: Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption. METHODS: A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys. RESULTS: Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively). CONCLUSIONS Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.

Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants. Methods: This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines. Results: A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040). Conclusion The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

OBJECTIVES: Dietary soy, known for its high phytoestrogen content, has been suggested to exhibit a sex-specific association with type 2 diabetes. However, evidence regarding the sex-specific associations of different legume subtypes with type 2 diabetes remains scarce. We aimed to evaluate whether habitual consumption of soy and non-soy legumes (beans and peanuts) was prospectively and sex-specifically associated with the risk of type 2 diabetes incidence, taking into considering significant sex-specific genetic factors beyond legume consumption. METHODS: A total of 16,666 participants (96,945 person-years) were followed and 945 incident cases were observed. Cumulative intake of legume subtypes was calculated using a food frequency questionnaire administered at baseline and during the revisit surveys. RESULTS: Non-soy legumes are inversely associated with type 2 diabetes in both men and women. Dietary soy intake, however, demonstrated a unilaterally interacting sex-specific association with type 2 diabetes risk (pinteraction for sex=0.017). Specifically, there was a significant inverse association with type 2 diabetes risk in women (incidence rate ratio, 0.66; 95% confidence interval, 0.48 to 0.80; ptrend=0.007), but no such association was observed in men. This sex-specific association persisted and even appeared antagonistic in minor allele carriers of 2 novel single nucleotide polymorphisms, rs10196939 (LRRTM4) and rs11750158 (near GFPT2) (pinteraction for sex=0.001 and 0.011, respectively). CONCLUSIONS Habitual consumption of legumes shows protective impacts against type 2 diabetes, although these benefits vary by sex. Non-soy legumes provide health advantages for both men and women, whereas soy consumption seems to be beneficial exclusively for women.