• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• Clinical Nutrition Research
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• v.12 no.1
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• pp.40-53
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• 2023

Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

• Nutrition Research and Practice
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• v.18 no.2
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• pp.165-179
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• 2024

BACKGROUND/OBJECTIVES: Mushroom consumption, rich in diverse nutrients and bioactive compounds, is suggested as a potential significant contributor to preventing cardiometabolic diseases (CMDs). This systematic review aimed to explore the association between mushrooms and cardiometabolic health outcomes, utilizing data from prospective cohort studies and clinical trials focusing on the general population, with mushrooms themselves as a major exposure. SUBJECTS/METHODS: All original articles, published in English until July 2023, were identified through searches on PubMed, Ovid-Embase, and google scholar. Of 1,328 studies, we finally selected 5 prospective cohort studies and 4 clinical trials. RESULTS: Existing research is limited, typically consisting of 1 to 2 studies for each CMD and cardiometabolic condition. Examination of articles revealed suggestive associations in some cardiometabolic conditions including blood glucose (both fasting and postprandial), high-density lipoprotein cholesterol related indices, high-sensitivity C-reactive protein, and obesity indices (body weight, body mass index, and waist circumference). However, mushroom consumption showed no association with the mortality and morbidity of cardiovascular diseases, stroke, and type 2 diabetes, although there was a potentially beneficial connection with all cause-mortality, hyperuricemia, and metabolic syndrome. CONCLUSION: Due to the scarcity of available studies, drawing definitive conclusions is premature. Further comprehensive investigations are needed to clarify the precise nature and extent of this relationship before making conclusive recommendations for the general population.

• Neonatal Medicine
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• v.25 no.1
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• pp.7-15
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• 2018

We need to understand the outcomes into adulthood for survivors born either extremely low birthweight (ELBW; <1,000 g) or extremely preterm (EP; <28 weeks' gestational age), particularly their blood pressure and cardiovascular metabolic status,respiratory function, growth, psychological and mental health performance, and functional outcomes. Blood pressure is higher in late adolescence and early adulthood in ELBW/EP survivors compared with controls. In some studies, expreterm survivors have higher insulin and blood lipid concentrations than controls, which may also increase their risk for later cardiovascular disease. ELBW/EP survivors have more expiratory airflow obstruction than do controls. Those who had bronchopulmonary dysplasia (BPD) in the newborn period have even worse lung function than those who did not have BPD. As a group, they are unlikely to achieve their full lung growth potential, which means that more of them are likely to develop chronic obstructive airway disease in later life. Although they are smaller than term born controls, their weight gradually rises and ultimately reaches a mean z-score close to zero in late adolescence, and they ultimately attain a height z-score close to their mid-parental height z-score. On average, ex-preterm survivors have intelligence quotient (IQ) scores and performance on tests of academic achievement approximately 2/3 SD lower than do controls, and they also perform less well on tests of attention and executive function. They have similar high rates of anxiety and depression symptoms in late adolescence as do controls. They are, however, over-represented in population registries for rarer disorders such as schizophrenia and Autism Spectrum Disorder. In cohort studies, ex-preterm survivors mostly report good quality of life and participation in daily activities, and they report good levels of self-esteem. In population studies, they require higher levels of economic assistance, such as disability pensions, they do not achieve education levels as high as controls, fewer are married, and their rates of reproduction are lower, at least in early adulthood. Survivors born ELBW/EP will present more and more to health carers in adulthood, as they survive in larger numbers.

• Reproductive and Developmental Biology
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• v.34 no.2
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• pp.81-88
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• 2010

Our objective of current study was to investigate the development of bone and heart in association with diabetes mellitus (DM). DM was induced by administering an intraperitoneal injection of streptozotocin (STZ; 60 mg/kg) to 4-week-old Sprague-Dawley rats. Body weight and blood glucose were monitored, and rats were sacrificed after 2 or 5 weeks. The left ventricle (LV), including the interventricular septum, was weighed, and body weight and tibial bone length were assessed. Young diabetic rats showed reduced growth in terms of tibial length and body weight compared to controls. Moreover, diabetic males showed more significant growth suppression and reduced LV size than diabetic females. Morphometric analysis of tibiae from diabetic rats revealed suppressed bone growth at 2 and 5 weeks, with no difference between genders. STZ-induced diabetes decreased bone growth and retarded pre-pubertal heart development. As a result, diabetes may increase cardiovascular risk factors and lead to eventual heart failure. Therefore, new therapeutic approaches are required for diabetic children exhibiting growth retardation. Heart growth factor, exercise, and cardiopulmonary physical therapy may be required to promote heart development and physiological function.

• Nutrition Research and Practice
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• v.15 no.2
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• pp.137-159
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• 2021

Long-chain (LC) n-3 polyunsaturated fatty acids (n-3 PUFAs), in particular docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA), are nutrients involved in many metabolic and physiological processes, and are referred to as n-3 LCPUFA. They have been extensively studied for their effects in human nutrition and health. This paper provides an overview on metabolism, sources, dietary intake, and status of n-3 LCPUFA. A summary of the dietary recommendations for n-3 LCPUFAs for different age groups as well as specific physiological conditions is provided. Evidence for n-3 LCPUFA in cardiovascular diseases, including new studies, is reviewed. Expert recommendations generally support a beneficial effect of n-3 LCPUFA on cardiovascular health and recommend a daily intake of 500 mg as DHA and EPA, or 1-2 servings of fish per week. The role of n-3 LCPUFA on brain health, in particular neurodegenerative disorders and depression, is reviewed. The evidence for beneficial effects of n-3 LCPUFA on neurodegenerative disorders is non-conclusive despite mechanistic support and observational data. Hence, no definite n-3 LCPUFA expert recommendations are made. Data for the beneficial effect of n-3 LCPUFA on depression are generally compelling. Expert recommendations have been established: 200-300 mg/day for depression; up to 1-2 g/day for major depressive disorder. Recent studies support a beneficial role of n-3 LCPUFAs in reducing the risk for premature birth, with a daily intake of 600-800 mg of DHA during pregnancy. Finally, international experts recently reviewed the scientific evidence on DHA and arachidonic acid (ARA) in infant nutrition and concluded that the totality of data support that infant and follow-on formulas should provide both DHA and ARA at levels similar to those in breast milk. In conclusion, the available scientific data support that dietary recommendations for n-3 LCPUFA should be established for the general population and for subjects with specific physiological conditions.

• Nutrition Research and Practice
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• v.16 no.6
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• pp.745-754
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• 2022

BACKGROUND/OBJECTIVES: The incidence of cardiovascular diseases (CVDs) has increased worldwide. Although a low serum vitamin D level is known to be associated with the risk of CVD, the mechanism is not well understood yet. The aim of this study was to determine the relationship of serum 25-hydroxyvitamin D₃ (25[OH]D) with homocysteine and apolipoprotein B (ApoB). SUBJECTS/METHODS: Of 777 subjects recruited from one health promotion center for routine heath exam from January 2010 to December 2016, 518 subjects were included in this study. Serum 25(OH)D, serum homocysteine, and other metabolic parameters including ApoB were analyzed. Simple and partial correlations were carried out after adjustments. Simple linear regression analysis was used for precise correlation of parameters. Multivariate regression analysis was done to know which factor (serum homocysteine or ApoB) was more related to serum 25(OH)D after adjustments. Finally, logarithms of homocysteine concentrations according to tertiles of serum 25(OH)D were compared. RESULTS: After sex and age adjustments, serum 25(OH)D showed negative correlations with serum homocysteine (r' = -0.114) and ApoB (r' = -0.098). In simple linear regression analysis, serum 25(OH)D showed a significant negative correlation with ApoB (P = 0.035). However, in multivariate regression analysis, serum 25(OH)D was significantly associated with serum homocysteine after adjustments (P = 0.022). In addition, serum homocysteine concentration was significantly high in the lowest 25(OH)D group (P = 0.046). CONCLUSION: Serum 25(OH)D concentration showed a stronger negative association with serum homocysteine than with ApoB.

• Clinical Nutrition Research
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• v.12 no.3
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• pp.199-217
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• 2023

People with higher genetic predisposition to obesity are more susceptible to cardiovascular diseases (CVDs) and healthy plant-based foods may be associated with reduced risks of obesity and other metabolic markers. We investigated whether healthy plant-foods-rich dietary patterns might have inverse associations with cardiometabolic risk factors in participants at genetically elevated risk of obesity. For this cross-sectional study, 377 obese and overweight women were chosen from health centers in Tehran, Iran. We calculated a healthy plant-based diet index (h-PDI) in which healthy plant foods received positive scores, and unhealthy plant and animal foods received reversed scores. A genetic risk score (GRS) was developed based on 3 polymorphisms. The interaction between GRS and h-PDI on cardiometabolic traits was analyzed using a generalized linear model (GLM). We found significant interactions between GRS and h-PDI on body mass index (BMI) (p = 0.02), body fat mass (p = 0.04), and waist circumference (p = 0.056). There were significant gene-diet interactions for healthful plant-derived diets and BMI-GRS on high-sensitivity C-reactive protein (p = 0.03), aspartate aminotransferase (p = 0.04), alanine transaminase (p = 0.05), insulin (p = 0.04), and plasminogen activator inhibitor 1 (p = 0.002). Adherence to h-PDI was more strongly related to decreased levels of the aforementioned markers among participants in the second or top tertile of GRS than those with low GRS. These results highlight that following a plant-based dietary pattern considering genetics appears to be a protective factor against the risks of cardiometabolic abnormalities.

• Korean Journal of Clinical Laboratory Science
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• v.47 no.3
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• pp.97-104
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• 2015

Sleep is not only an essential physiological function, but also serves important roles in promoting growth, maturation, and overall health of humans. There is increasing interest regarding the impact of sleep and its disorders on the regulation of inflammatory processes and end-organ morbidities, particularly in the context of metabolic and cardiovascular diseases (CVD) and their complications. Obstructive sleep apnea syndrome (OSAS) is an increasingly common health problem in children. In the last decade, the emergence of increasing obesity rates has further led to remarkable increases in the prevalence of OSAS, along with more prominent neurocognitive, behavioral, cardiovascular and metabolic morbidities. Although the underlying mechanisms leading to OSAS-induced morbidities are likely multifactorial and remain to be fully elucidated, activation of inflammatory pathways by OSAS has emerged as an important pathophysiological component of the end-organ injury associated with this disorder. To this effect, it would appear that OSAS could be viewed as a chronic, low-grade inflammatory disorder. Furthermore, the concurrent presence of obesity and OSAS poses a theoretically increased risk of OSAS-related complications. In this study, we will critically review the current state of research regarding the impact of insufficient and disrupted sleep and OSAS on the immune processes and inflammatory pathways that underlie childhood OSAS as a distinctive systemic inflammatory condition in children, and will explore potential interactions between OSAS and obesity.

• Journal of Physiology & Pathology in Korean Medicine
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• v.27 no.5
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• pp.677-682
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• 2013

Impaired glucose tolerance(IGT) & Impaired fasting glucose(IFG) were standardized in 1979 by the National Diabetes Data Group and the World Health Organization as a risk factor for type 2 diabetes. The main clinical significance of IGT & IFG shows some risk factors on type 2 diabetes, cardiovascular disease and component of the metabolic syndrome. In 1997, the American Diabetes Association(ADA) proposed the new classification and diagnostic criteria for diabetes, which wss striction on the diagnostic baseline of Diabetes from 140 mg/dl to 126 mg/dl. This is because that the early diagnosis and treatments can prevent chronic complications. In the oriental medicine, Gamiyookmigihwang-tang has been using for the treatments of Diabetes including IGT & IFG; however, there have not been enough studies about the effect of the glycemic control objectively. So clinical studies have been performed on a mild DM(Diabetes Mellitus) patient with IGT and IFG in order to investigate whether there is hypoglycemic effect of Gamiyookmigihwang-tang. Prior to the study, for two weeks fasting blood sugar(FBS) and postprandial 2hrs(PP2hrs) glucose were checked. in addition ECG, T-cholesterol, TG, HbA1c levels were measured; then, Gamiyookmigihwang-tang has administrated for 4 weeks. and FBS, PP2hrs, T-cholesterol, TG, HbA1c were measured again after the herb medicine treatment. FBS, PP2hrs glucose levels and other measuring levels (T-cholesterol, TG, HbA1c) were decreased by the administration of Gamiyookmigihwang-tang. Gamiyookmigihwang-tang has hypoglycemic effects on a mild DM patient with IGT and IFG.