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1.
Korean Journal of Dermatology ; : 137-139, 2023.
Article in English | WPRIM | ID: wpr-968059

ABSTRACT

Lymphomatoid papulosis (LyP) is a relatively uncommon CD30+ lymphoproliferative disorder with a good prognosis. However, it is important to be cautious because 4%∼25% of the cases are accompanied by secondary lymphoma. LyP is divided into subtypes of infiltrate-descriptive categories based on the histological findings. Classically, LyP shows a patchy, wedge-shaped, dermal infiltrate of small to intermediate-sized lymphocytes, with atypical lymphoid cells and a variable mixture of neutrophils, histiocytes, and eosinophils. Follicular LyP (type F LyP), which was recently described and is not yet included as an official subtype in the World Health Organization classification, shares these characteristics, although its infiltrate is folliculocentric. Variable folliculotropism, follicular dilation, rupture, and mucinosis can occur. This entity is commonly misdiagnosed and is possibly underreported because its histopathologic features can masquerade as more common follicular-based entities. Herein, we report the case of follicular type LyP, which has not been reported in in Korean dermatology literature.

2.
Journal of Nutrition and Health ; : 112-121, 2023.
Article in English | WPRIM | ID: wpr-967629

ABSTRACT

Purpose@#Eating behaviors are influenced by food environments, such as availability and/or accessibility of healthy food options. In this study, we examined the relationship between healthy eating-out options and the intention to eat healthily in adults residing in Daqing, China, using an extended theory of planned behavior (TPB). @*Methods@#Data were collected via an online survey conducted from April to May 2021 using a previously validated questionnaire in Daqing. A total number of 308 subjects aged 18–64, either Daqing oilfield workers or their family members were eligible and finally included in the analysis. The relationships among the attributes and the quality of healthy eatingout options, the three major constructs of TPB, and the intentions of healthy eating were examined using multiple linear regression analyses. @*Results@#Subjective norms (p = 0.049) and perceived behavioral control (PBC) (p = 0.000) were significantly related to the healthy eating intention. The quality and attributes of the food served statistically significantly explained the intention to eat healthily. After controlling for age, sex, and body mass index, not the quality but the attributes of food served (p = 0.037), subjective norms (p = 0.016), and PBC (p = 0.000) had a significant relationship with the intention to eat healthily. The model explained 83.7% of the variance. @*Conclusion@#The healthy eating-out choices, along with subjective norms and PBC of TPB, may be a potential determinant of healthy eating intention among Chinese adults living in Daqing, China. Policy implications have highlighted that not only the personal intention to eat healthy foods, but also the available healthy food environment may be important for the choice of healthy options by the population of interest. Therefore, building an environment for healthy eating choices and campaigns aimed at increasing consumer awareness of healthy eating are equally important for a smart eating choice.

3.
Kosin Medical Journal ; : 215-218, 2023.
Article in English | WPRIM | ID: wpr-1002496

ABSTRACT

Targetoid hemosiderotic nevus (THN) is a rare variant of melanocytic nevus, characterized by a sudden development of a targetoid ecchymotic halo around a pre-existing nevus. THN clinically raises concern for malignant transformation due to its abrupt change in color and size. THN should be distinguished from other diseases showing a peripheral halo, including targetoid hemosiderotic hemangioma, halo nevus, and Meyerson nevus. Dermoscopy can help clinicians to differentiate THN from these diseases. The typical dermoscopic features of THN are known to be divided into two distinctive areas: the central melanocytic area and the peripheral ecchymotic area. In our case, dermoscopy revealed a novel bull’s eye pattern composed of a central area with characteristic features of benign melanocytic nevus, an intermediated white circular ring, and a peripheral milky red area. When a sudden change occurs in a pre-existing nodule showing targetoid features, dermoscopy should be considered before conducting a biopsy or surgical intervention.

4.
Cancer Research and Treatment ; : 429-441, 2023.
Article in English | WPRIM | ID: wpr-976699

ABSTRACT

Purpose@#Targeted next-generation sequencing (NGS) is widely used for simultaneously detecting clinically informative genetic alterations in a single assay. Its application in clinical settings requires the validation of NGS gene panels. In this study, we aimed to validate a targeted hybridization capture-based DNA panel (ONCOaccuPanel) using the Illumina MiSeq sequencing platform. The panel allows the simultaneous detection of single-nucleotide variants (SNVs), insertions, deletions, and copy number changes of 323 genes and fusions of 17 genes in solid tumors. @*Materials and Methods@#We used 16 formalin-fixed paraffin-embedded (FFPE) tumor samples with previously known genetic mutations and one reference material (HD827) for validation. Moreover, we sequenced an additional 117 FFPE tumor samples to demonstrate the clinical utility of this panel. @*Results@#Validation revealed a 100% positive percentage agreement and positive predictive value for the detection of SNVs, insertions, deletions, copy number changes, fusion genes, and microsatellite instability–high types. We observed high levels of reproducibility and repeatability (R2 correlation coefficients=0.96-0.98). In the limit of detection assessment, we identified all clinically relevant genes with allele frequencies > 3%. Furthermore, the clinical application of ONCOaccuPanel using 117 FFPE samples demonstrated robust detection of oncogenic alterations. Oncogenic alterations and targetable genetic alterations were detected in 98.2% and 27.4% cases, respectively. @*Conclusion@#ONCOaccuPanel demonstrated high analytical sensitivity, reproducibility, and repeatability and is feasible for the detection of clinically relevant mutations in clinical settings.

5.
Journal of the Korean Society of Biological Therapies in Psychiatry ; (3): 43-51, 2023.
Article in English | WPRIM | ID: wpr-1001835

ABSTRACT

Objectives@#The purpose of this study was to investigate the association between body mass index (BMI) and body shape perception and depression. @*Methods@#This study was based on data from 2016, 2018, and 2020 Korean National Health and Nutrition Examination Survey (KNHANES). The subjects were 7,302 adult female aged 19 to 65. We performed chi-square test with the RaoScott correction and Logistic regression analyses to examine the association among BMI, body shape perception, and depression. @*Results@#All demographic variables such as age, household income, education, marital status, medical service satisfaction, body shape perception, medical conditions except drinking problem, smoking and physical activity were correlated with depression. The rate of depression decreased from underweight to normal weight and overweight, and increased from obesity to severe obesity (p<0.001). And people who perceived themselves thin or overweight had more depression than normal (p<0.001). @*Conclusions@#The results of this study suggest that appropriate body mass index and normal body shape perception have a positive effect on mental health.

6.
Journal of the Korean Academy of Child and Adolescent Psychiatry ; : 268-274, 2023.
Article in English | WPRIM | ID: wpr-1001615

ABSTRACT

Objectives@#This study investigated whether the Minnesota Multiphasic Personality Inventory-Adolescent Restructured Form (MMPI-ARF) can differentiate between two groups of adolescents, one diagnosed with internalizing disorders and another with externalizing disorders, and examined the clinical utility of the MMPI-A-RF by examining which subscales can significantly discriminate between these two groups. @*Methods@#A total of 105 adolescents aged 13–18 years completed the MMPI-A-RF (53 internalizing disorder and 52 externalizing disorder groups). Independent t-test, chi-square test ( χ 2 ), and discriminant analysis were used to examine whether MMPI-A-RF can distinguish between the two groups. @*Results@#Sixteen MMPI-A-RF scales best predicted differences between the groups with internalizing and externalizing disorders.Fourteen scales (Higher-Order Scale [Emotional/Internalizing Dysfunction], Restructured Clinical [RC] Scale [RC demoralization, Somatic Complaints (RC1), and Low Positive Emotions (RC2)], Personality Psychopathology Five Scale [Introversion/Low Positive Emotionality-Revised, Negative Emotionality/Neuroticism-Revised], Somatic/Cognitive Scale [Malaise, Head Pain Complaints, and Gastrointestinal Complaints], Internalizing Scale [Stress/Worry, Self-Doubt], Externalizing Scale [Negative School Attitudes], Interpersonal Scale [Social Avoidance, Shyness]) were associated with the internalizing disorder group, whereas two scales (Externalizing Scale [Conduct Problems, Negative Peer Influence]) were associated with the externalizing disorder group. @*Conclusion@#The MMPI-A-RF can be an efficient assessment tool for a quick diagnosis as it can classify individuals with internalizing and externalizing disorders in clinical settings that lack a variety of assessment tools for children and adolescents.

7.
Journal of Pathology and Translational Medicine ; : 251-264, 2023.
Article in English | WPRIM | ID: wpr-1001503

ABSTRACT

Background@#The Korean Society for Cytopathology introduced a digital proficiency test (PT) in 2021. However, many doubtful opinions remain on whether digitally scanned images can satisfactorily present subtle differences in the nuclear features and chromatin patterns of cytological samples. @*Methods@#We prepared 30 whole-slide images (WSIs) from the conventional PT archive by a selection process for digital PT. Digital and conventional PT were performed in parallel for volunteer institutes, and the results were compared using feedback. To assess the quality of cytological assessment WSIs, 12 slides were collected and scanned using five different scanners, with four cytopathologists evaluating image quality through a questionnaire. @*Results@#Among the 215 institutes, 108 and 107 participated in glass and digital PT, respectively. No significant difference was noted in category C (major discordance), although the number of discordant cases was slightly higher in the digital PT group. Leica, 3DHistech Pannoramic 250 Flash, and Hamamatsu NanoZoomer 360 systems showed comparable results in terms of image quality, feature presentation, and error rates for most cytological samples. Overall satisfaction was observed with the general convenience and image quality of digital PT. @*Conclusions@#As three-dimensional clusters are common and nuclear/chromatin features are critical for cytological interpretation, careful selection of scanners and optimal conditions are mandatory for the successful establishment of digital quality assurance programs in cytology.

8.
Journal of Nutrition and Health ; : 247-263, 2023.
Article in English | WPRIM | ID: wpr-1001466

ABSTRACT

Purpose@#This study was conducted to update the Nutrition Quotient for Adolescents (NQ-A), which is used to assess the overall dietary quality and food behavior among Korean adolescents. @*Methods@#The first 30 candidate items of the measurable eating behavior checklist were obtained based on a previous NQ-A checklist, the results of the seventh Korea National Health and Nutrition Examination Survey data, Korea Youth Risk Behavior Survey data, national nutrition policies and dietary guidelines, and literature reviews. A total of 100 middle and high school students residing in Seoul and Gyeonggi Province participated in a pilot study using the 25-item checklist. Factor analysis and frequency analysis were conducted to determine if the checklist items were organized properly and whether the responses to each item were distributed adequately, respectively. As a result, 22 checklist items were selected for the nationwide survey, which was applied to 1,000 adolescent subjects with stratified sampling from 6 metropolitan cities. The construct validity of the updated NQ-A 2021 was assessed using confirmatory factor analysis. @*Results@#Twenty checklist items were determined for the final NQ-A 2021. The items were composed of three factors: balance (8 items), moderation (9 items), and practice (3 items). The standardized path coefficients were used as the weights of items to determine the nutrition quotients. NQ-A 2021 and 3-factor scores were calculated according to the weights of questionnaire items. The weight for each of the 3 factors was determined as follows: balance, 0.15; moderation, 0.30; and practice, 0.55. @*Conclusion@#The updated NQ-A 2021 is a useful instrument for easily and quickly evaluating the dietary qualities and eating behaviors of Korean adolescents

9.
Journal of Nutrition and Health ; : 264-276, 2023.
Article in English | WPRIM | ID: wpr-1001462

ABSTRACT

Purpose@#Food environmental factors related to food insecurity affect household food intake in several socio-ecological aspects. This study explores the relationship between food environment factors and food insecurity in households with married immigrant women. @*Methods@#From November 2018 to February 2020, a survey was conducted enrolling 249 married immigrant women residing in the metropolitan areas of South Korea. In the final analysis, 229 subjects were divided into 2 groups classified as food security (n = 154) and food insecurity (n = 75), as assessed by the score of food security. Three aspects of food environments were measured: built·natural, political·economic, and socio-cultural @*Results@#Food environments were significantly different between food security and food insecurity groups, as follows: the number of foods market and their distance from the home and food status for the last week at home in the built·natural domain; monthly cost of food purchase and experience for food assistance in the political·economic domain; total score of social support, parenting, and cooking skills in the socio-cultural domain. A stepwise multivariate linear regression model showed a negative association between the food insecurity score with social support from family and food inventory status in the last week. After adjusting for confounders, a positive association was obtained between the experience of a food support program. The final regression model explains about 30% of the relationship obtained in the three food environment domains and food insecurity (p < 0.001). @*Conclusion@#Not only economic factors, which are common determinants of household food insecurity, but socio-cultural factors such as social support also affect household food insecurity. Therefore, plans for implementing a food assistance program to improve food insecurity for households with immigrant women should consider financial support as well as other comprehensive aspects, including socio-cultural domain such as social support from family and community.

10.
Journal of Korean Medical Science ; : e330-2023.
Article in English | WPRIM | ID: wpr-1001216

ABSTRACT

Background@#Targeted risk population has been highly vaccinated against pneumococcal diseases in South Korea. Despite this, the pneumococcal serotype distribution is evolving, which impedes efficient roll-out of vaccines. @*Methods@#This prospective cohort study included patients aged ≥ 19 years with communityacquired pneumonia (CAP) from five university hospitals in South Korea between September 2018 and July 2021. The outcomes of interest were the demographic and clinical characteristics of patients with CAP, pneumococcal serotype distribution, and risk factors of 30-day mortality in patients with pneumococcal CAP (pCAP). Considering the high seroprevalence, we analyzed the clinical characteristics of serotype 3 pCAP. @*Results@#A total of 5,009 patients hospitalized with CAP was included (mean age ± standard deviation, 70.3 ± 16.0 years; 3,159 [63.1%] men). Streptococcus pneumoniae was the leading causative agent of CAP (11.8% overall, 17.7% in individuals aged < 65 years with chronic medical conditions). Among the 280 serotyped Streptococcus pneumococcus, serotype 3 was the most common (10.0%), followed by serotypes 19A (8.9%), 34 (8.9%), and 35B (8.9%).Non-vaccine serotypes (serotype 35B [13.9%] and 34 [12.0%]) were the most prevalent in 108 individuals vaccinated with 23-valent pneumococcal polysaccharide vaccine (PPSV23).Serotype 3 was prevalent, irrespective of PPSV23 vaccination status, and more common in individuals with chronic lung disease (P = 0.008). Advanced age (adjusted odds ratio [aOR], 1.040; 95% confidence interval [CI], 1.011–1.071), long-term care facility residence (aOR, 2.161; 95% CI, 1.071–4.357), and bacteremia (aOR, 4.193; 95% CI, 1.604–10.962) were independent risk factors for 30-day mortality in patients with pCAP. PPSV23 vaccination reduced the risk of mortality (aOR, 0.507; 95% CI, 0.267–0.961). @*Conclusion@#Serotype 3 and 19A were still the most common serotypes of pCAP in South Korea despite the national immunization program of 13-valent pneumococcal conjugated vaccine in children and PPSV23 in old adults. PPSV23 vaccination might reduce the risk of mortality in patients with pCAP.

11.
Journal of Breast Cancer ; : 397-402, 2023.
Article in English | WPRIM | ID: wpr-1000768

ABSTRACT

Low-grade myofibroblastic sarcoma (LGMFS) is a rare type of sarcoma, and its manifestation as a radiotherapy (RT)-induced sarcoma following RT for breast cancer is even more unusual.To date, only one case of RT-induced mammary myofibroblastic sarcoma (MFS) has been reported. Here we present the case of a 49-year-old woman with LGMFS after undergoing breast-conserving surgery for invasive ductal carcinoma (IDC), and with a history of RT 16 years prior. Due to the rarity of this disease, previous studies have focused primarily on the pathological findings of MFS. In this report however, we present the clinical and radiological features of LGMFS in the retro pectoral area as a rare type of RT-induced sarcoma.

12.
Clinical and Molecular Hepatology ; : 794-809, 2023.
Article in English | WPRIM | ID: wpr-999979

ABSTRACT

Background/Aims@#Chronic hepatitis B (CHB) is a risk factor for non-Hodgkin lymphoma (NHL). Our recent study suggested that antiviral treatment may reduce the incidence of NHL in CHB patients. This study compared the prognoses of hepatitis B virus (HBV)-associated diffuse large B-cell lymphoma (DLBCL) patients receiving antiviral treatment and HBV-unassociated DLBCL patients. @*Methods@#This study comprised 928 DLBCL patients who were treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) at two referral centers in Korea. All patients with CHB received antiviral treatment. Time-to-progression (TTP) and overall survival (OS) were the primary and secondary endpoints, respectively. @*Results@#Among the 928 patients in this study, 82 were hepatitis B surface antigen (HBsAg)-positive (the CHB group) and 846 were HBsAg-negative (the non-CHB group). The median follow-up time was 50.5 months (interquartile range [IQR]=25.6–69.7 months). Multivariable analyses showed longer TTP in the CHB group than the non-CHB group both before inverse probability of treatment weighting (IPTW; adjusted hazard ratio [aHR]=0.49, 95% confidence interval [CI]=0.29–0.82, p=0.007) and after IPTW (aHR=0.42, 95% CI=0.26–0.70, p<0.001). The CHB group also had a longer OS than the non-CHB group both before IPTW (HR=0.55, 95% CI=0.33–0.92, log-rank p=0.02) and after IPTW (HR=0.53, 95% CI=0.32–0.99, log-rank p=0.02). Although liver-related deaths did not occur in the non-CHB group, two deaths occurred in the CHB group due to hepatocellular carcinoma and acute liver failure, respectively. @*Conclusions@#Our findings indicate that HBV-associated DLBCL patients receiving antiviral treatment have significantly longer TTP and OS after R-CHOP treatment than HBV-unassociated DLBCL patients.

13.
Biomolecules & Therapeutics ; : 319-329, 2023.
Article in English | WPRIM | ID: wpr-999681

ABSTRACT

Resistance to hypomethylating agents (HMAs) in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) is a concerning problem. Polo-like kinase 1 (PLK1) is a key cell cycle modulator and is known to be associated with an activation of the PI3K pathway, which is related to the stabilization of DNA methyltransferase 1 (DNMT1), a target of HMAs. We investigated the effects of volasertib on HMA-resistant cell lines (MOLM/AZA-1 and MOLM/DEC-5) derived from MOLM-13, and bone marrow (BM) samples obtained from patients with MDS (BM blasts >5%) or AML evolved from MDS (MDS/AML). Volasertib effectively inhibited the proliferation of HMA-resistant cells with suppression of DNMTs and PI3K/AKT/mTOR and ERK pathways. Volasertib also showed significant inhibitory effects against primary BM cells from patients with MDS or MDS/AML, and the effects of volasertib inversely correlated with DNMT3B expression. The DNMT3B-overexpressed AML cells showed primary resistance to volasertib treatment. Our data suggest that volasertib has a potential role in overcoming HMA resistance in patients with MDS and MDS/ AML by suppressing the expression of DNMT3 enzymes and PI3K/AKT/mTOR and ERK pathways. We also found that DNMT3B overexpression might be associated with resistance to volasertib.

14.
Biomolecules & Therapeutics ; : 466-472, 2023.
Article in English | WPRIM | ID: wpr-999666

ABSTRACT

Exon skipping is an efficient technique to inhibit specific gene expression induced by a short-sequence peptide nucleic acid (PNA).To date, there has been no study on the effects of PNA on skin pigmentation. In melanocytes, the tripartite complex is responsible for the transport of mature melanosomes from the nucleus to the dendrites. The tripartite complex is composed of Rab27a, Mlph (Melanophilin), and Myosin Va. Defects in the protein Mlph, a melanosome transport-related protein, are known to cause hypopigmentation. Our study shows that Olipass peptide nucleic acid (OPNA), a cell membrane-permeable PNA, targets exon skipping in the Mlph SHD domain, which is involved in Rab27a binding. Our findings demonstrate that OPNA induced exon skipping in melan-a cells, resulting in shortened Mlph mRNA, reduced Mlph protein levels, and melanosome aggregation, as observed by microscopy. Therefore, OPNA inhibits the expression of Mlph by inducing exon skipping within the gene. These results suggest that OPNA, which targets Mlph, may be a potential new whitening agent to inhibit melanosome movement.

15.
Journal of Korean Medical Science ; : e134-2023.
Article in English | WPRIM | ID: wpr-976964

ABSTRACT

There are many reports of subacute thyroiditis (SAT) that occurred after the coronavirus disease 2019 (COVID-19), but no such case has been reported in Korea. Moreover, the simultaneous occurrence of SAT and Graves’ disease (GD) is rare. Here, we describe a patient who developed SAT and GD after the second episode of COVID-19. A 27-year-old woman with no known history of thyroid disease presented with fever, upper respiratory tract symptoms, and painful neck swelling. Thyroid function tests revealed thyrotoxicosis, and thyroid ultrasound showed heterogeneous echogenicity of enlarged thyroid glands. Her initial clinical presentation was consistent with SAT after viral infection, with typical neck tenderness and spontaneous improvement of thyrotoxicosis without antithyroid drug use. However, this case had some atypical features, such as an elevated thyroid-stimulating immunoglobulin level, relapse of thyrotoxicosis in short-term follow-up, and increased Tc-99m pertechnetate uptake, suggesting the coexistence of GD. About two months after methimazole (15 mg/day) was prescribed, she was lost to follow up again. We report the first case of unusual co-occurrence of SAT and GD following COVID-19.

16.
Infection and Chemotherapy ; : 409-418, 2022.
Article in English | WPRIM | ID: wpr-946185

ABSTRACT

Background@#We investigated cardiovascular disease (CVD), risk factors for CVD, and applicability of the three known CVD risk equations in the Korean human immunodeficiency virus/ Acquired Immune Deficiency Syndrome (HIV/AIDS) cohort. @*Materials and Methods@#The study parcitipants were HIV-infected patients in a Korean HIV/ AIDS cohort enrolled from 19 hospitals between 2006 and 2017. Data collected at entry to the cohort were analyzed. The 5-year CVD risk in each participant was calculated using three CVD risk equations: reduced CVD prediction model of HIV-specific data collection on adverse effects of anti-HIV drugs (R-DAD), Framingham general CVD risk score (FRS), and Korean Coronary Heart Disease Risk Score (KRS). @*Results@#CVD events were observed in 11 of 586 HIV-infected patients during a 5-year (median) follow-up period. The incidence of CVD was 4.11 per 1,000 person-years. Older age (64 vs. 41 years, P = 0.005) and diabetes mellitus (45.5% vs. 6.4%, P <0.001) were more frequent in patients with CVD. Using R-DAD, FRS, and KRS, 1.9%, 2.4%, and 0.7% of patients, respectively, were considered to have a very high risk (≥10%) of 5-year CVD. The discriminatory capacities of the three prediction models were good, with c-statistic values of 0.829 (P <0.001) for R-DAD, 0.824 (P <0.001) for FRS, and 0.850 (P = 0.001) for KRS. @*Conclusion@#The FRS, R-DAD, and KRS performed well in the Korean HIV/AIDS cohort. A larger cohort and a longer period of follow-up may be necessary to demonstrate the risk factors and develop an independent CVD risk prediction model specific to Korean patients with HIV.

17.
Journal of Experimental Hematology ; (6): 571-576, 2022.
Article in Chinese | WPRIM | ID: wpr-928756

ABSTRACT

OBJECTIVE@#To analysis clinical phenotype and potential genetic cause of a family affected with hereditary coagulation factor Ⅻ deficiency.@*METHODS@#The prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), D-Dimer (D-D), coagulation factor Ⅻ activity (FⅫ:C) and coagulation factor Ⅻ antigen (FⅫ:Ag) were determined for phenotype diagnosis of the proband and his family members(3 generations and 5 people). Targeted capture and whole exome sequencing were performed in peripheral blood sample of the proband. Possible disease-causing mutations of F12 gene were obtained and further confirmed by Sanger sequencing. The corresponding mutation sites of the family members were analyzed afterwards. The online bioinformatics software AutoPVS1 and Mutation Taster was used to predict the effects of mutation sites on protein function.@*RESULTS@#The APTT of the proband was significantly prolonged, reaching 180.9s. FⅫ:C and FⅫ:Ag of the proband was significantly reduced to 0.8% and 4.17%, respectively. The results of whole exome sequencing displayed that there were compound heterozygous mutations in F12 gene of the proband, including the c.1261G>T heterozygous nonsense mutation in exon 11 (causing p.Glu421*) and the c.251dupG heterozygous frameshift mutation in exon 4 (causing p.Trp85Metfs*53). Both mutations are loss of function mutations with very strong pathogenicity, leading to premature termination of the protein. AutoPVS1 and Mutation Taster software predicted both mutations as pathogenic mutations. The results of Sanger sequencing revealed that c.1261G>T heterozygous mutation of the proband was inherited from his mother, for which his brother and his daughter were c.1261G>T heterozygous carriers. Genotype-phenotype cosegregation was observed in this family.@*CONCLUSION@#The c.1261G>T heterozygous nonsense mutation in exon 11 and the c.251dupG heterozygous frameshift mutation in exon 4 of the F12 gene probably account for coagulation factor Ⅻ deficiency in this family. This study reports two novel pathogenic F12 mutations for the first time worldwide.


Subject(s)
Female , Humans , Male , Blood Coagulation Disorders , Codon, Nonsense , Factor XII/genetics , Heterozygote , Mutation , Pedigree
18.
Nutrition Research and Practice ; : s1-s10, 2022.
Article in English | WPRIM | ID: wpr-926840

ABSTRACT

BACKGROUND/OBJECTIVES@#The Dietary Reference Intakes for Koreans (KDRIs) were revised in 2020. Due to the rapidly aging Korean population, special consideration was given to reclassify the KDRI age group categories of older adults. This article examines the evidence for modifying the current KDRI age group ranges of older adults (65–74 and ≥ 75 yrs). @*SUBJECTS/METHODS@#We first reviewed the domestic and international data on the elderly, following which we received expert opinions on age classification from the KDRI Advisory Committee. Finally, the 6th and 7th (2013–2017) Korea National Health and Nutrition Examination Survey (KNHANES) data were used to analyze the nutritional intake statuses by considering the age of older adults. @*RESULTS@#According to the review results of domestic and international data and the inputs received from the expert advisory committee, the minimum age considered for the elderly was maintained at 65 yrs. However, the KNHANES data was analyzed to review whether there was a need to subdivide the later periods. Examining the differences in nutrient intakes by age group through the interaction effect term of the piecewise linear regression model revealed the interaction effect was maximum in the groups divided by 65 yrs (50–64 and 65–80), as compared to the groups divided by 70 yrs (50–69 and 70–80) and 75 yrs (50–74 and 75–80). The mean adequacy ratio was calculated per 1 yr of age, and a 3-yr (age) moving average analysis was performed to examine the change in the trends of overall nutrient intake. However, it was challenging to secure a scientific basis for subdivision into age groups in older adults from the results obtained. @*CONCLUSIONS@#This study could not find any scientific evidence for modifying the KDRI age groups for older adults.

19.
Nutrition Research and Practice ; : 233-247, 2022.
Article in English | WPRIM | ID: wpr-926822

ABSTRACT

BACKGROUND/OBJECTIVES@#The objective of this study was to describe the development process of the Korean Healthy Eating Index (KHEI) based on the Korea National Health and Nutrition Examination Survey (KNHANES). @*SUBJECTS/METHODS@#The components of KHEI were selected based on Dietary Guidelines for Koreans, domestic and overseas dietary quality indices, and results of the analysis of association with chronic diseases. The standards for scoring of KHEI were selected based on the 2015 Dietary Reference Intakes for Koreans (KDRI). The KHEI scores of Korean adults were calculated using a 1-day 24-h recall data in the 2013–2015 KNHANES. @*RESULTS@#The KHEI included eight adequacy components evaluating the proper intake of recommended foods such as fruit, vegetable, and milk and three moderation components evaluating the consumption of food that limit intake such as sodium and saturated fatty acid. In addition, three balance components assessing the balance of energy intake were included. The KHEI score was defined to range from the minimum of 0 point to the maximum of 100 points. Among Korean adults, the total KHEI score was 63.2 out of 100. Gender and age differences were found in the average of total KHEI scores. Women showed higher score than men (61.7 in men and 64.7 in women, respectively). By age group, 20s and 30s showed the lowest scores with 57.4 and 61.1 respectively, and the scores increased with age by peaking at 67.8 in ages 60–69 and slowed down again in ages 70 or over. @*CONCLUSIONS@#The KHEI can be useful for establishing and assessing national nutritional policies and in epidemiological studies to assess the relationship between overall dietary quality and chronic diseases. KHEI will need to be continuously updated to reflect changes in dietary guidelines and the KDRI.

20.
Journal of Nutrition and Health ; : 155-173, 2022.
Article in English | WPRIM | ID: wpr-926137

ABSTRACT

Purpose@#This study was undertaken to update the Nutrition Quotient for Elderly (NQ-E), which reflects dietary quality and behavior among Korean older adults. @*Methods@#The first 29 items of the measurable food behavior checklist were obtained from a previous NQ-E checklist, recent literature reviews, and national nutrition policies and recommendations. One-hundred subjects (50 men and 50 women) aged ≥ 65 years living in the Seoul Metropolitan Area, including Gyeonggi Province, completed a pilot survey from March to April 2021. Based on the results of the pilot study, we conducted factor analysis and frequency analysis to determine whether the items of the survey were properly organized and whether the distribution of answers for each evaluation item was properly distributed. As a result, we reduced the number of items on the food behavior checklist and used 23 items for the national survey. Nationwide, 1,000 subjects (472 men and 528 women) aged > 65 years, completed the checklist survey, which was applied using a face-to-face survey method from May to August 2021. The construct validity of the NQ-E 2021 was assessed using confirmatory factor analysis, LISREL. @*Results@#Seventeen food behavior checklist items were selected for the final NQ-E 2021.Checklist items addressed three factors: balance (8 items), moderation (2 items), and practice (7 items). Standardized path coefficients were used as the weights of items to determine nutrition quotients. NQ-E and three-factor scores were calculated according to the weights of questionnaire items. @*Conclusion@#The updated NQ-E 2021 produced by structural equation modelling provides a suitable tool for assessing the dietary quality and behavior of Korean older adults.

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