Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.17
no.3
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pp.103-108
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2017
Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.
The Journal of Korean Academy of Sensory Integration
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v.22
no.1
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pp.1-14
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2024
Objective : This study aimed to investigate the impact of Ayres' sensory integration (ASI) intervention on motor skills and occupational participation of preschool children with attention-deficit/hyperactivity disorder (ADHD). Method : Children with ADHD aged between 4 and 6 years who met the inclusion and exclusion criteria were randomly recruited through screening tests. The subjects were divided into an experimental group (10 subjects) and a control group (8 subjects). The instruments used were the Bruininks-Oseretsky test of motor proficiency-2 (BOT-2), Pediatric Evaluation of Disability Inventory (PEDI), and Goal Attainment Scale (GAS) to evaluate occupational participation. The subjects in the experimental group underwent individual sensory integration therapy according to the ASI principles for 40 minutes twice a week in a total of 16 sessions over eight weeks. The control group did not receive the ASI intervention. Data analysis was performed using the Mann-Whitney U test, chi-squared test, Wilcoxon signed-rank test, and Cohen's d test in SPSS 20.0. Results : The ASI experimental group had significantly higher scores in total motor composite, manual coordination, body coordination, strength, and agility in motor function than the control group (p<.05). The two groups did not differ significantly in terms of occupational participation (PEDI), but GAS scores for individual target activities were significantly higher in the experimental group than in the control group (p<.05). Conclusion : This study shows that the ASI intervention has positive effects on motor skills and occupation participation among preschool children with ADHD.
The study aim was to examine the effect of sensory responses of subjects after 6-month dietary sodium reduction with the aid of nutritional education. Fourteen female college students voluntarily restricted their sodium intake for 6 months, during which time they received nutritional education on the low sodium diet. As a control group, 10 students, whose anthropometric measurement, sodium intake behavior, and blood pressure were not different from those of the experimental group, were maintained on a normal diet. For the sensory responses of subjects, the salt taste perception and pleasantness for graded (0.15-1.3%) NaCl solutions were measured by a 9-point hedonic scale. The optimum sodium concentration, urinary sodium excretion, and blood pressure were measured. All the measurements were done at the beginning and end of the experiment. The sensory evaluation revealed an absence of any difference between the two groups in salt taste perception and pleasantness responses at the beginning. After 6-month adaptation, the experimental group subjects showed higher responses to low NaCl solution (0.15, 0.3, 0.5%) in salt taste perception and pleasantness evaluation while the control group subjects exhibited the opposite response. The optimum sodium concentration was reduced from 105.6 mmol to 80.7 mmol (p = 0.015) and the urinary sodium excretion was also reduced from 1,398 mg to 906 mg (p = 0.041) only in the experimental group. Systolic blood pressure was significantly reduced in the experimental group, although there was no correlation between the urinary sodium excretion and blood pressure. The optimum sodium concentration was negatively correlated with the urinary sodium excretion (r = 0.418, p = 0.053), indicating that adaptation to low sodium diet can reduce sodium intake. Further study on the individual responses of subjects on a low sodium diet by periodical evaluation may provide useful data for setting the duration needed to stabilize a lowered appetite for sodium.
This study evaluated the effect of the nutrition education about infant feeding on the change of mother's knowledge, attitude and practice of weaning. The subjects consisted of treatment group (n=54) and control group (n=34). The treatment group participated in 6 times nutrition education and 5 times surveys. Nutrition education for weaning of the treatment group improved nutrition knowledge, attitude and practice in infant feeding. Before education, mean scores of control group and treatment group were 7.3 and 7.5 respectively but there was no significant difference. Both group got low score in a statement about weaning period, but they got good score in a statement about weaning method. After education, treatment group got better score(9.1) than control group(8.3) significantly (p<0.05). Treatment group was more desirable than control group specially in a use of Sun-sik, sugar, salt and weaning food mixed with formula after education (p<0.05). Practice of spoon feeding was more frequent in treatment group after education, however, control group used sugar and commercial weaning food more frequently than treatment group(p<0.05). Intake frequency of cow's milk and cookies of infants at age 9-12 month in control group was higher than treatment groups(p<0.01). Thus the nutrition education to mother seems to be effective in achieving desirable dietary behavior of infants.
Rha, Young Ah;Kang, Min Jeong;Lee, Sun Ho;Kim, Jung Yun
Culinary science and hospitality research
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v.21
no.4
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pp.284-293
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2015
This study was intended to investigate food, exercise habits, perception of health status and the effects of nutrient intake of female college students. Food habits such as regularity of meal time, repast of breakfast, numbers of night snack per week and duration of meal were assessed via a self reporting questionnaire, and 24hrs recall method for nutrient intake was obtained from 155 female college students in Yangju-si. The mean height and weight of the subjects were $161.25{\pm}3.52cm$ and $52.26{\pm}4.52kg$, respectively. The average intakes of energy and nutrients were below the Korea recommended dietary allowance(RDA). Especially, The nutrient intakes(energy, protein, fat, fiber, calcium, iron, phosphorus, zinc, sodium, potassium, vitamin B6, niacin, vitamin C, folate, vitamin E, cholesterol) of the group in which the regularity of meal time per week was 5~7 days was significantly higher than the group in which the regularity of meal time was < 3 days (p<0.005). The nutrient intakes influenced by the food habit such as the regularity of meal time, skipping breakfast, and the numbers of night snack per week but did not differ in accordance with the regular exercise habits and perception of health status. These findings suggest that nutritional education based on female college students' food habits(regularity of meal time, skipping breakfast and night snacks per week, and duration of meal) may be required to improve dietary variety. It is considered that the improvement in dietary habits will contribute to the improvement of nutrition.
To determine the incidence rate of child battering and related factors, a questionnaire survey was Conducted on 1,255 children in 4th and 5th grades of two elementary schools (one in the upper economic class area with 519 students and the other in the lower economic class area with 504 students) in Taegu and two schools in rural areas of Kyungpook province (120 and 112 students, respectively) from 1st May to 10th May 1990. Total number of children who were battered during one-month period (1-30 April 1990) prior to the survey was 918 (73.1%). Among the battered children 87 (6.9%) were severely battered (twice or more in a month by kicking or more severe method) and 831 children (66.2%) were moderately battered (all other battering than severe battering). The percentage of battered children and degree of battering were not significantly different between two schools in Taegu and between urban and rural areas. Common reasons for battering were disobediance (61.9%), making troubles (34.9%), and poor school performance (33.3%). However, 16.1% of severely battered children responded that the perpetrators battered them to wreak their anger and 5.7% of them did not know the reason why they were battered. A majority of the battered children (65%) regretted their fault after being battered but 20.7% of the severely battered children wanted to run away and 9.2% of them had an urge to commit suicide. While most of the physical injuries due to battering were minor as bruise (52.7%) but some of them were severe, e.g., bone fracture (2.5%), skin laceration (1.5%), and loss of consciousness. (0.2%). The common psycho-behavioral complaints of the severely battered children were unwillingness to study (31%), unwillingness to live (17.2%), and reluctance to go home (13.8%). The incidence rate of severe battering was significantly higher (p=0.018) among the children living in a quarter attached to a store (14.0%) than the children living in an apartment (6.6%) and individual house (6.2%). The incidence rate of severe battering was higher among children living in a rental house (8.4%) than children living in their own house 6.3%) (p=0.005). The children of father only working (5.1%) and mother only working (4.5%) had a lower incidence rate of severe battering than the children of both parents working (9.1%) and both parents unemployed (20.7%) (p=0.006). More children were battered when there was a sick family member (80.8%) compared with the children without a sick family member (71.4%) (p=0.001). The incidence rates of severe and moderate battering increased as the frequency of quarreling between mother and father increased (P=0.000). The percentage of unbattered children was higher among children whose father's occupation was professional (39.4%) than that of the total study subjects (26.9%) (p<0.001).
The objective of this study was to investigate the relationship between body condition score (BCS), blood urea nitrogen (BUN) and estrous expression for the purpose of improving reproductive performance. In total, 37 ovulations and 28 estrous detection were observed among 51 Holstein-Friesian dairy cows. The estrous inducement rate and estrous expression rate were significantly lower for cows with BCS below 2.0 than for cows with BCS above 2.0. There was 0% of rate of standing heat in cows with BCS below 2.0 whereas the rate of standing heat was markedly increased in cows with BCS above 2.0 (46.7% and 64.7% for BCS $2.0{\sim}2.49$ and BCS $2.5{\sim}3.0$ cows, respectively). The estrous expression rate was significantly lower for cows with BUN below 10mg/dl than for cows with BUN above 10mg/dl. There was no significant difference among duration time of estrus, estrous behavior patterns and BUN concentration. The rate of estrous expression and concentration of BUN was not significantly different between primiparous and multiparous cows. This result shows that the level of BCS and BUN affect the estrous expression. Considering the situation that estrous expression is decreased in recent years, effective nutritional management should be accompanied to improve reproductive performance.
Purpose: This study was planned to determine the characteristics of extremely obese patients during Bariatric surgery and to evaluate how the difference in the number of postsurgical personal nutritional educations they received affected the weight loss. Methods: This is a retrospective study on the basis of the medical records of extremely obese patients for 15 months after receiving gastric banding. A total of 60 people were selected as the study subjects and they were divided into the Less Educated Group and the More Educated Group according to the average number of personal nutritional educations they received. We investigated both groups to determine the general characteristic, health related lifestyle habits, obesity related complications and symptoms in possession, and eating habits before their surgery, the body composition measurement result, obesity determination indices at 1, 3, 6, 9, 12, and 15 months before and after their surgery, and the biochemical parameters at 6 months before and after their surgery. Results: Body fat and weight showed rapid reduction until 6 months after the surgery, but thereafter reduced slowly depending on the result of body composition measurement. Regarding body fat and weight, the More Educated Group, who received nutrition education more often, showed significantly lower levels than the Less Educated Group at 15 months after surgery. Regarding BMI and degree of obesity, the More Educated Group showed significantly lower levels than the Less Educated Group at 15 months after surgery. Here, we were assured that BMI is reversely proportional to the number of personal nutritional educations at 15 months, which is more outstanding after surgery than before surgery. Conclusion: Long-term nutritional education is a key factor for the extremely obese patient in maintaining the effects of Bariatric surgery on weight and body fat reduction onwards. In the next stage, considering the characteristics of the study subjects, adoption of individual nutrition education is recommended for postsurgical prospective arbitration of obesity in order to monitor blood pressure, obesity related complications, symptoms in possession, and how eating habits and health related life habits change, and to judge the actual effect of the nutritional education method at the same time.
Lee, Mi Hyun;Choi, Jae-Won;Oh, Seong Min;Lee, Yu Jin
Sleep Medicine and Psychophysiology
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v.25
no.2
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pp.51-57
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2018
Objectives: Previous studies have shown that periodic limb movements in sleep (PLMS) could be one of risk factors for cardiovascular morbidity. The purpose of this study was to investigate the association between PLMS and blood pressure changes during sleep. Methods: We analyzed data from 358 adults (176 men and 182 women) aged 18 years and older who were free from sleep apnea syndrome (Respiratory Disturbance Index < 5) and sleep disorders such as REM sleep behavior disorder or narcolepsy. Demographic characteristics, polysomnography records, and clinical variable data including blood pressure, body mass index, alcohol, smoking, and current medications were collected. In addition, self-report questionnaires including the Beck Depression Index, Epworth Sleepiness Scale and Pittsburgh Sleep Quality Index were completed. Blood pressure change from bedtime to awakening was compared between the two periodic limb movement index (PLMI) groups [low PLMI ($PLMI{\leq}15$) and high PLMI (PLMI > 15)]. Blood pressure change patterns were compared using repeated measures analysis of variance. Results: Systolic blood pressure in the high PLMI group was lower than that in the low PLMI group (p = 0.036). These results were also significant when adjusted for gender and age, but were not statistically significant when adjusted for BMI, alcohol, smoking, anti-hypertension medication use and sleep efficiency (p = 0.098). Systolic blood pressure dropped by 9.7 mm Hg in the low PLMI group, and systolic blood pressure in the high PLMI group dropped by 2.9 mm Hg. There was a significant difference in delta systolic blood pressure after sleep between the two groups in women when adjusted for age, BMI, alcohol, smoking, antihypertensive medication use and sleep efficiency (p = 0.023). Conclusion: PLMS was significantly associated with a decreasing pattern in nocturnal BP during sleep, and this association remained significant in women when adjusted for age, BMI, alcohol, smoking, antihypertension medication use and sleep efficiency related to blood pressure. We suggest that PLMS may be associated with cardiovascular morbidity.
The purpose of this study was to investigate the eating behavior, food preference and nutrition knowledge according to the body style of male college students. The subjects were 219 male students enrolled in University, Taegu. The data was collected by using a survey questionnaire and an anthropometric measurement. The results were summarized as follows: The mean height, weight and BMI of subjects were $173.8{\pm}8.7cm,\;65.8{\pm}7.9Kg,\;and\;21.9{\pm}2.4$, respectively. The subjects were divided into three groups according to the BMI: underweight group(<20); normal group(20-25); and overweight group(>25). One third of the subjects preferred to gain weight(33.8%); 47 subjects preferred to lose weight(21.5%); and the rest of the subjects satisfied their physique(44.7%). Most of subjects considered 'supper' as the most important meal during a day. Among the food items, the most frequently and evenly ingested item by subjects was 'Kimchi' : 'Ham and sausage' was the least preferred food among subjects. There was no significant difference in preference among three groups and almost half of the subjects had irregular meal time because of busy schedule. The preference for meat showed high score among underweight group; on the other hand, the preference for fruits and vegetables showed high score among overweight group. Usually subjects gained nutrition knowledge through media including newspaper, magazine and TV. There was no significant difference of the nutrition knowledge score among three groups. Based on these results, nutrition education program for the college student should be arranged in the classes.
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