Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia

Objectives@#. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients. @*Methods@#. Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated. @*Results@#. In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms. @*Conclusion@#. Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.

Evaluation of Nutrition Education for Hypertension Patients Aged 50 Years and Over / 대한지역사회영양학회지

This study was designed to implement and evaluate a nutrition education program for hypertensive patients aged between 50 and over. Nutrition education consisted of four sessions and, 35 out of 51 patients completed all education sessions at the public health center. To assess program effectiveness (effectively), data about blood pressure, blood cholesterol, anthropometry, nutrition knowledge, eating behavior and dietary intake were collected before and after nutrition education. Data were analyzed using SAS package (ver. 9.2) and significant difference was evaluated by paired t-test, x2-test and Wilcoxon signed rank test. Blood cholesterol was significantly reduced from 200.7 mg/dL to 188.7 mg/dL after nutrition education, although there were not significant changes in blood pressure or blood triglyceride level. Weight (p < 0.05), % body fat (p < 0.001), BMI (p < 0.05) were significantly reduced, especially in women, after nutrition education. Nutrition knowledge was increased significantly (p < 0.05), and some eating behaviors such as 'having fruits & vegetables for snack' and 'having brown rice, barley rice than white rice' were improved after nutrition education (p < 0.05). Sodium intake was reduced from 3,888.9 mg/day to 3,157.4 mg/day after nutrition education (p < 0.05). Except protein and iron intakes, the nutrient intake of hypertensive patients was much below the recommended level for Koreans. Dietary intakes of most of nutrients were not significantly different between pre-test and post-test. It appeared that nutrition education for the aged hypertensive patients was effective in reducing the percentage of % body fat and BMI, increasing the nutrition knowledge and some dietary behaviors. This nutrition education can be implemented at public health centers or senior centers for hypertensive patients.

A Study on Fast Food Consumption, Nutritional Knowledge, Food Behavior and Dietary Intake of University Students

This study was designed to examine fast food consumption, nutritional knowledge, food behavior and dietary intake of university students and to investigate if there were differences in these variables by fast food consumption. The questionnaire was administered to university students in Daejeon. Data(n=269) was analyzed using chih-square -test and analysis of variance. Subjects were mostly female(62%) and freshmen or sophomores(86%). Based on the frequency of fast food consumption, subjects were categorized into non-users(27.9%), users( or = 2 times/week, 30.1%). Those who used fast foods(n=194) consumed the foods 7.5 times per month, on the average. Subjects scored 15.6 out of 20 on a nutritional knowledge scale, showing the moderate level of knowledge. When examined by fast food use, the nutritional knowledge score was 15.5 for non-users, 16.1 for users, and 15.0 for frequent-users(p<0.05). Only two items, regarding 'fat type(animal, plant) and health' and 'importance of having breakfast', were significantly different by fast food consumption, with user group and non-users scoring higher than frequent-users(p<0.05). Food behaviors, measured by 20 items, were not desirable, with mean scores of 51.5(possible score: 20-100). Subjects showed problems in eating meals regularly, eating a variety of foods, eating breakfast, and consumption of some food groups(vegetables, fruits, and proteins). Fast food non-users showed more desirable food behaviors than users or frequent-users, such as having processed foods (p<0.001) and eating-out less frequently(p<0.01). Dietary intake data showed that some nutrient intakes, including energy, calcium, iron, zinc and folic acid were less than 75% of the RDA. Index of nutritional quality(INQ) was adequate except for calcium and zinc. Compared to non-users or user group, frequent-users of fast foods consumed higher amounts of lipids(p<0.05), and had lower INQ for calcium(p<0.01). This study described the status of fast food consumption, nutritional knowledge, food behavior of university students, and provided some baseline data for planning nutrition education for university students.