2.The Association of Smoking Status with Diabetic Microvascular Complications in Korean Patients with Type 2 Diabetes
Yongin CHO ; Hye-Sun PARK ; Da Hea SEO ; Seong Hee AHN ; Seongbin HONG ; Young Ju SUH ; Suk CHON ; Jeong-Taek WOO ; Sei Hyun BAIK ; Kwan Woo LEE ; So Hun KIM
Yonsei Medical Journal 2024;65(8):427-433
Purpose:
Few studies have investigated the association between smoking and microvascular complications in the Asian population with type 2 diabetes mellitus (T2DM). We aimed to investigate the relationship between smoking status and microvascular complications in Korean patients with T2DM.
Materials and Methods:
From the Korean National Diabetes Program cohort, we included 2316 Korean male with T2DM who had baseline clinical information available, including their smoking status, and underwent diabetic complication studies.
Results:
Compared to non-smokers, current smokers had higher odds of any-microvascular complications [adjusted odds ratio (aOR) 1.45, 95% confidence interval (CI) 1.07–1.97, p=0.016]. The odds of neuropathy were significantly higher; however, the odds of retinopathy were significantly lower in current smokers than in nonsmokers (all p<0.05). Among those who underwent repeated complication tests after 3 years, the risk of newly developed retinopathy was significantly increased in ex-smokers [aOR 3.77 (95% CI 1.61–8.87), p=0.002]. Within ex-smokers, long smoking duration and smoking cessation within the recent 5 years were associated with an increased risk of newly developed retinopathy (all p<0.05).
Conclusion
Male smokers had higher odds of having overall diabetic microvascular complications, including neuropathy. However, the odds of having retinopathy were significantly lower among current smokers. More attention and research are needed regarding the increased risk of retinopathy development in ex-smokers who have recently stopped smoking after a long history of smoking.
3.Report of the Korean Association of External Quality Assessment Service on Newborn Screening and Metabolite Testing in Korea (2022–2023)
Journal of Laboratory Medicine and Quality Assurance 2024;46(4):175-189
External quality assessment (EQA) trials for newborn screening tests were conducted twice in 2022 and 2023. These included tests for congenital hypothyroidism, adrenal hyperplasia, and galactosemia, as well as tandem mass spectrometry-based screenings for conditions such as phenylketonuria, maple syrup urine disease, homocystinuria. Each trial involved the analysis of six dried blood spot specimens for each test item across 15 laboratories.The mean, standard deviation, median, minimum and maximum values, and cut-offs were determined for each analyte in the newborn screening tests.The proportion of correct answers was 93%–100%. Additionally, EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, homovanillic acid, catecholamines, metanephrines, amino acids, and organic acids were performed using three specimens per trial. A well-designed EQA program, combined with continuous education, can help improve the performance of newborn screening and metabolite testing.
4.Report of the Korean Association of External Quality Assessment Service on Newborn Screening and Metabolite Testing in Korea (2022–2023)
Journal of Laboratory Medicine and Quality Assurance 2024;46(4):175-189
External quality assessment (EQA) trials for newborn screening tests were conducted twice in 2022 and 2023. These included tests for congenital hypothyroidism, adrenal hyperplasia, and galactosemia, as well as tandem mass spectrometry-based screenings for conditions such as phenylketonuria, maple syrup urine disease, homocystinuria. Each trial involved the analysis of six dried blood spot specimens for each test item across 15 laboratories.The mean, standard deviation, median, minimum and maximum values, and cut-offs were determined for each analyte in the newborn screening tests.The proportion of correct answers was 93%–100%. Additionally, EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, homovanillic acid, catecholamines, metanephrines, amino acids, and organic acids were performed using three specimens per trial. A well-designed EQA program, combined with continuous education, can help improve the performance of newborn screening and metabolite testing.
5.Report of the Korean Association of External Quality Assessment Service on Newborn Screening and Metabolite Testing in Korea (2022–2023)
Journal of Laboratory Medicine and Quality Assurance 2024;46(4):175-189
External quality assessment (EQA) trials for newborn screening tests were conducted twice in 2022 and 2023. These included tests for congenital hypothyroidism, adrenal hyperplasia, and galactosemia, as well as tandem mass spectrometry-based screenings for conditions such as phenylketonuria, maple syrup urine disease, homocystinuria. Each trial involved the analysis of six dried blood spot specimens for each test item across 15 laboratories.The mean, standard deviation, median, minimum and maximum values, and cut-offs were determined for each analyte in the newborn screening tests.The proportion of correct answers was 93%–100%. Additionally, EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, homovanillic acid, catecholamines, metanephrines, amino acids, and organic acids were performed using three specimens per trial. A well-designed EQA program, combined with continuous education, can help improve the performance of newborn screening and metabolite testing.
6.Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer
Boyeon KIM ; Yoonjung KIM ; Jae Yong CHO ; Kyung-A LEE
Annals of Laboratory Medicine 2024;44(2):164-173
Background:
Molecular cancer profiling may lead to appropriate trials for molecularly targeted therapies. Cell-free DNA (cfDNA) is a promising diagnostic and/or prognostic biomarker in gastric cancer (GC). We characterized somatic genomic alterations in cfDNA of patients with GC.
Methods:
Medical records and cfDNA data of 81 patients diagnosed as having GC were reviewed. Forty-nine and 32 patients were tested using the Oncomine Pan-Cancer CellFree Assay on the Ion Torrent platform and AlphaLiquid 100 kit on the Illumina platform, respectively.
Results:
Tier I or II alterations were detected in 64.2% (52/81) of patients. Biomarkers for potential targeted therapy were detected in 55.6% of patients (45/81), and clinical trials are underway. ERBB2 amplification is actionable and was detected in 4.9% of patients (4/81). Among biomarkers showing potential for possible targeted therapy, TP53 mutation (38.3%, 35 variants in 31 patients, 31/81) and FGFR2 amplification (6.2%, 5/81) were detected the most.
Conclusions
Next-generation sequencing of cfDNA is a promising technique for the molecular profiling of GC. Evidence suggests that cfDNA analysis can provide accurate and reliable information on somatic genomic alterations in patients with GC, potentially replacing tissue biopsy as a diagnostic and prognostic tool. Through cfDNA analysis for molecular profiling, it may be possible to translate the molecular classification into therapeutic targets and predictive biomarkers, leading to personalized treatment options for patients with GC in the future.
7.Survival rate and death risk for associated pulmonary arterial hypertension: A retrospective population-based study
Sujin KIM ; Shin Yi JANG ; Soo Yeon LEE ; Su Ra SEO ; Seonju YI ; Chang-Kwan LEE ; Eun Jeong CHO ; Kyeongsug KIM
Precision and Future Medicine 2024;8(1):2-9
Purpose:
This study aimed to assess the survival rate (SR) and death risk for associated pulmonary arterial hypertension (aPAH; 10th revision of the International Statistical Classification of Diseases [ICD-10], I27.2) in Koreans.
Methods:
The data were collected from the Korean National Health Insurance Service from 2006 through 2017 (n= 15,448). We analyzed the SR using the Kaplan-Meier method and carried out Cox proportional hazards analyses.
Results:
Patients’ mean age upon aPAH diagnosis was 60.1±24.0 years, and 60.7% of the patients were female. The 10-year SR of aPAH was 46.3% (95% confidence interval, 45.0 to 47.6). The factors associated with an increase in the adjusted death risk included age of 0 to 9 years, advancing age, male sex, lower income level, and comorbidities including diabetes mellitus, myocardial infarction, heart failure, hemorrhagic stroke, chronic kidney disease, malignant neoplasm, hereditary hemorrhagic telangiectasia, and systemic lupus erythematosus.
Conclusion
The 10-year SR of aPAH was over 46%. The risk of death from aPAH was significantly higher with advancing age, sex, lower income level, and comorbidities.
8.Report of the Korean Association of External Quality Assessment Service on Newborn Screening and Metabolite Testing in Korea (2022–2023)
Journal of Laboratory Medicine and Quality Assurance 2024;46(4):175-189
External quality assessment (EQA) trials for newborn screening tests were conducted twice in 2022 and 2023. These included tests for congenital hypothyroidism, adrenal hyperplasia, and galactosemia, as well as tandem mass spectrometry-based screenings for conditions such as phenylketonuria, maple syrup urine disease, homocystinuria. Each trial involved the analysis of six dried blood spot specimens for each test item across 15 laboratories.The mean, standard deviation, median, minimum and maximum values, and cut-offs were determined for each analyte in the newborn screening tests.The proportion of correct answers was 93%–100%. Additionally, EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, homovanillic acid, catecholamines, metanephrines, amino acids, and organic acids were performed using three specimens per trial. A well-designed EQA program, combined with continuous education, can help improve the performance of newborn screening and metabolite testing.
9.Report of the Korean Association of External Quality Assessment Service on Newborn Screening and Metabolite Testing in Korea (2022–2023)
Journal of Laboratory Medicine and Quality Assurance 2024;46(4):175-189
External quality assessment (EQA) trials for newborn screening tests were conducted twice in 2022 and 2023. These included tests for congenital hypothyroidism, adrenal hyperplasia, and galactosemia, as well as tandem mass spectrometry-based screenings for conditions such as phenylketonuria, maple syrup urine disease, homocystinuria. Each trial involved the analysis of six dried blood spot specimens for each test item across 15 laboratories.The mean, standard deviation, median, minimum and maximum values, and cut-offs were determined for each analyte in the newborn screening tests.The proportion of correct answers was 93%–100%. Additionally, EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, homovanillic acid, catecholamines, metanephrines, amino acids, and organic acids were performed using three specimens per trial. A well-designed EQA program, combined with continuous education, can help improve the performance of newborn screening and metabolite testing.
10.The Anti-Diabetic Pinitol Improves Damaged Fibroblasts
Ji-Yong JUNG ; Joong Hyun SHIM ; Su Hae CHO ; Il-Hong BAE ; Seung Ha YANG ; Jinsick KIM ; Hye Won LIM ; Dong Wook SHIN
Biomolecules & Therapeutics 2024;32(2):224-230
Pinitol (3-O-Methyl-D-chiro-inositol) has been reported to possess insulin-like effects and is known as one of the anti-diabetic agents to improve muscle, liver, and endothelial cells. However, the beneficial effects of pinitol on the skin are not well known.Here, we investigated whether pinitol had effects on human dermal fibroblasts (HDFs), and human dermal equivalents (HDEs) irradiated with ultraviolet A (UVA), which causes various damages including photodamage in the skin. We observed that pinitol enhanced wound healing in UVA-damaged HDFs. We also found that pinitol significantly antagonized the UVA-induced up-regulation of matrix metalloproteinase 1 (MMP1), and the UVA-induced down-regulation of collagen type I and tissue inhibitor of metalloproteinases 1 (TIMP1) in HDEs. Electron microscopy analysis also revealed that pinitol remarkably increased the number of collagen fibrils with regular banding patterns in the dermis of UVA-irradiated human skin equivalents. Pinitol significantly reversed the UVAinduced phosphorylation levels of ERK and JNK but not p38, suggesting that this regulation may be the mechanism underlying the pinitol-mediated effects on UVA-irradiated HDEs. We also observed that pinitol specifically increased Smad3 phosphorylation, which is representative of the TGF-β signaling pathway for collagen synthesis. These data suggest that pinitol exerts several beneficial effects on UVA-induced damaged skin and can be used as a therapeutic agent to improve skin-related diseases.

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