• Title/Summary/Keyword: Family month

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A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets

  • Kim, Sejin;Kim, Sungsoo;Kim, Namhee
    • Journal of Genetic Medicine
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    • v.19 no.1
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    • pp.27-31
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    • 2022
  • X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

A Study on the Health Care of Ewha Womans University Staff, Faculty and Families (대학교 교직원 및 그가족의 의료에 관한 연구 -이화 여자 대학교를 중심으로-)

  • Kang, Ji-Yong
    • Journal of Preventive Medicine and Public Health
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    • v.7 no.1
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    • pp.163-173
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    • 1974
  • A study on the health care of Ewha Womans University staff, faculty and families was conducted during the period from March 1973 to August 1974 using designed questionaire. A total of 196 persons who were randomly sampled as 27.3% of the total staff and faculty 789 were studied. The response rates were 96.0%. The results and findings obtained from the study are summerized as follow. 1. The sex ratio of the members the faculty and the staff shows 83.2% and the singles are 37.2% of the total. Their mean family size being 4.6 persons per capita, each family has mean number of 2.3 childeren. 2. The median monthly income of a member of faculty amounts \114,000 and that of a staff \43,077. It amounts \79,333 when the median monthly income of both the members of the faculty and the staff are taken. Consequently, it amounts \91,727\ per family (Assumed mean). 3. 71.4% of the total hold the house of their own. A spouses of 59.4% of them are working for the additional income of the family. 4. Their health condition is rated fair, i. e. 92.3% of them enjoy good health. Out of total members faculty and the staff, 20.6% are cared by family physician. 36.2% of them feel that they are burdened by heavy medical expense. 5. 76.7% of them have affirmatively responded that they would purchase medical insurance policy when they were offered. It reaches 84.0% of the total who consider buying the policy for their dependents. 74.0% of them desire to purchase the policy for their spouse's parents. 6. The monthly prevalence rate reaches 17.0% and the hospital admission rate 4.7%.12.3% of them affirmatively responded that they had chronic diseas. The number of sick call per capita counts 0.2 per month and the hospital admission rate 0.05. 7. To examine the nature of their disease, the respiratory disease is rated to be the top and the gastro-intestinal disease comes to the next. As far as chronic disease is concerned, the gastro-intestinal disease is predominent. 8. As to their treatment, 65.4% of them get the physician's treatment and 17.0% treatment of drug purchasing and 7.7% prefer Chinesedrug. 6.6% of them gets no medical treatment at all. 9. The treatment ratio, including drug purchasing and other means, reaches 93.4%. 60.7% of them affirmatively responded that they did not or could not get physician's treatment at least once even though they thought they had to. It is disclosed that 25.4% of them are caused by economical reason. 10. Average medical expense per case amounts \7,116 and monthly medical expense per capita \1,345. Consequently, average monthly medical expense per family amounts \6,185. 11. The medical expense of a family is rated 7.7% of total earnings of the same period.

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A Study on Mother's Feeding Practice in a Urban Apartment Area (일부도시(一部都市) 아파트지역(地域) 어머니의 수유(授乳)에 관(關)한 조사연구(調査硏究))

  • Lee, Sung-Shoe
    • Journal of Preventive Medicine and Public Health
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    • v.15 no.1
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    • pp.167-177
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    • 1982
  • This study was undertaken to observe relationships between patterns of feeding, supplementary-feeding and various maternal, family, and socioeconomic charactereistics in Hae Cheog Apartment area in Cheongdam-dong, Kangnamku, Seoul on July 2 to 12 in 1982. The results were based on a questionnaire from 179 mothers who have the last-born child under two years old. Results were as follows: 1) In socio-demographic characteristics, most of mothers were 25 to 30 years old and 52.0% of index children were under 6 months old. About 56.0% of families were the salaries and 47.0% of them earn over 500,000 won a month. 40.8% of mothers were college graduates and 81.6% of mothers had no occupation. 2) 89.4% of mothers received prenatal care in pregnancy of the index children and mothers who have delivered the child in medical institute were 88.3%. Mothers who recieved education of breast care and feeding technique through prenatal care were 22.4%, 31.8% respectively. 3) In the feeding method, 44.1% of mothers took the breast feeding, 24.0% of them chose the artificial feeding, and 20.7% of them chose the mixed feeding. Mothers who changed the-method from breast feeding to artificial feeding were 10.6% and only 0.6% of mothers changed from artificial feeding to breast feeding. 4) According to the questionnaire, 37 mothers have already finished lactation (no relation with. the beginning of weaning food). In breast feeding, one mother has lactated for $4{\sim}6$ months, one has lactated for $7{\sim}9$ months, four have lactated for $10{\sim}12$ months, and seven have. continued the lactation over 12 months. In artificial and mixed feeding, as the same phenomenon, most of mothers have lactated for more than 12 months. 5) The reasons for feeding method were as follows: In breast feeding, 64.6% of them took the method because they thought the breast milk nutrious, in artificial feeding, 34.9% of them chose it because they had occupation and in the mixed feeding, 67.6% of mothers took the method because of lack of their breast milk. In the case of changing the method from breast feeding to artificial feeding, 42.1% of them answered that they had to change the method because of lack of breast milk. 6) In most of cases, the 4th month was the proper period to begin the weaning food and 32.5% of breast feeding children and 27.6% of artificial feeding children began the weaning food in 4th month. After 4th month, there was no difference between breast feeding and artificial feeding in the beginning of weaning food. 7) In the matter of menstruation, 29.8% of mothers who had breast feeding started their menstruations in 3 months and the rest of them delayed until 12 months. 40% of mothers who had artificial feeding began to menstruate after 2 months and all the rest started within 5 months. 8) The birth interval between the index child and next new child (would-be-born): In breast feeding, the interval of $18{\sim}24$ months had a majority as 50.0%, and in the artificial feeding, the interval of over 24 months marked 66.7% of them. It was analyzed that the birth interval of artificial feeding was wider than that of breast feeding. 9) In the desirable number of children, the mothers who had breast feeding wanted two sons and two daughters as proper children. Those who want two children in disregard of the sex (son or daughter) were 89.3% of breast feeding, and 80.0% of artificial feeding respectively. Mothers who had breast feeding wanted two children rather than one child. 10) In the family planning practice, the rate of practice were 41.9% in breast feeding, and 58.1% in artificial feeding respectively. In the case of breast feeding, the using rate of family planning practice in men was higher than in women.

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A Study of the Housework Hours and Fatigue Levels in Middle-aged Women (중년여성의 가사노동시간과 피로도에 관한 연구)

  • Park, Chai-Soon;Oh, Jeong-Ah;Suh, Soon-Rim
    • Women's Health Nursing
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    • v.6 no.3
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    • pp.398-412
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    • 2000
  • The purpose of this study was to identify a relationship between housework hours and fatigue level in middle-aged women. The subjects were 204 women living in Seoul and near the city, ranging in ages of 30-59(mean = 41.6 year) and were interviewed during the month of Oct. to Dec. 1999. The following questionnaires were utilized in this study: a self reporting housework time measurement table and a fatigue symptom scale originated from Yoshitake (1978). The analysis of the data was done by SAS program, t-test, ANOVA, and Pearson correlation. The results of this study were as follows : 1. Total mean hours of housework of the subjects were shown 9.2 hours on weekdays and 8.9 hours on weekend. Mean hours according to the area of houseworks on weekdays and on weekend were preparing and providing meal 3.9 and 4.2, doing laundry and maintaining clothes 3.1 and 1.6, keeping and maintaining house 1.6 and 1.4, caring family 1.3 and 1.2, and keeping household records 0.5 both. 2. With respect to the general characteristics of the subjects, there were significantly difference in age, job, religion, type of family, number of children, experience of present and previous illness, and perceived body size. 3. Average fatigue scores of the subjects were 16.6 of total score 60. Fatigue scores by the area were neuroperceptive fatigue 6.5, mental fatigue 5.2, and physical fatigue 4.9 in order. There were significantly differences in the score of fatigue by religion, number of family, present illness, and perception of body size. 4. There were significantly positive relationships in the scores of fatigue with the total hours of housework, preparing and providing meal, doing laundry and maintaining clothes, keeping and maintaining house, and caring family. 5. The physical fatigue scores were positively related with the areas of preparing and providing meal, doing laundry and maintaining clothes. While the mental fatigue scores were positively related the areas of preparing and providing meal, caring family, and keeping and maintaining house, and neuroperceptive fatigue scores were positively related with the areas of keeping and maintaining house and caring family. The recommendations from this study were further studies to investigate how middle-aged women manage their fatigue level, increase public awareness of middle aged women's fatigue level, and develop programs for middle-aged women to help with high fatigue.

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A Study on the Most Frequent Diseases of Health Insurance Program and the Primary Care Physicians in Korea (의료보험 다빈도 상병과 1차진료 의사에 관한 연구)

  • 김철환;문옥륜
    • Health Policy and Management
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    • v.3 no.1
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    • pp.124-145
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    • 1993
  • General practitioners, internists, pediatricians, and family physicians are classified as so-called primary care physicians in the United States. We carried out this study for the purpose of answering the following question; "Who are the primary care physicians in Korea\ulcorner" We analyzed the 663, 154 claims which were drawn from the health insurance processing file made during the period of one month, April 1992 on the basis of systemic random sampling technique. The 663, 154 cases were matched with the doctor's file registered at the National Federation Medical Insurance by using the indivisual physician code number and analyzed according to the kind of specialty. If we follow the Geyman's definition of primary care physician in the United States, this study shows that they can take care of 43.2% of the total private clinic's claims in Korea. Provided that general practitioners and family physicians are considered the same way as in the United Kingdom, they could with only 8.3% of the total claims in Korea. The most frequent diseases are those which rank first to 46th in the total private clinic's claims. The proportion of the most frequent diseases was highest for pediatricians(90.4%) and followed by internists(81.4%), otolaryngologists(78.7%) and family physicians(76.5%). The proportion of the most frequent diseases in the most common 46 diseases was highest for radiologists(80.4%) and the next was as follows : general practitioners(78.3%), family physicians(67.4%), and internists(67.4%). We classified the most common 20 diseases of each specialty into 17 categories of ICD-9 and compared it with those of general practitioners. The specialists who had managed a similar disease pattern to those of general practitioners were identified as anesthesiologists, family physicians, general surgeons, and internists. Some specialists practicing at private clinics managed the diseases which were not quite appropriate for their specialties. After we evaluated each specialty by the most common diseases, the most frequent diseases, and the most frequent 20 diseases of each specialty in terms of the 17 categories of ICD-9, a tentative assumption is made that the primary physicians in the Republic of Korea are general practitioners, anesthesiologists, family physicians, internists, and general surgeons. This study has concluded that the categories of the primary care physicians are so diverse that their roles and distributions are distorted accordingly. Vigorous health policy efforts in correcting the malcomposition need to be made for the better provision of primary health care in Korea. in Korea.

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Dietary supplement use by South Korean adults: Data from the national complementary and alternative medicine use survey (NCAMUS) in 2006

  • Ock, Sun-Myeong;Hwang, Seung-Sik;Lee, Jeong-Seop;Song, Chan-Hee;Ock, Chan-Myung
    • Nutrition Research and Practice
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    • v.4 no.1
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    • pp.69-74
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    • 2010
  • There has been little data on the prevalence of supplement use and the characteristics of the dietary supplement users in the Republic of Korea. This study presents the prevalence and the details of any dietary supplement use and the characteristics of the adults who use dietary supplements in the Republic of Korea. Between May 18 and June 16, 2006, nationwide and population-weighted personal interviews with 6,201 adult aged from 30 to 69 years were conducted and the final sample consisted of 3,000 people with a 49.8% response rate. We examined the prevalence and details of the use of dietary supplements and the characteristics of those who use the dietary supplement among adults. About sixty two percent of adults had taken any dietary supplement during the previous 12-month period in 2006. The most commonly reported dietary supplement was ginseng, followed by multivitamins, glucosamine, probiotics, and vitamin C. Female (versus male), an older age group, a higher family income, those living in metropolitan cities, those with marital experience, those with a higher level of education, and those having medical problems had a greater likelihood of reporting the use of any dietary supplements. The particular relationships differed depending on the type of supplement. The most Korean adults took one more dietary supplement and the dietary supplement users had different demographic and health characteristics compared to those of the nonusers. Research on diet supplements by the medical community is needed in the future.

A Study on Community Rehabilitation Program of the two Public Health Center (2개 보건소의 방문보건재활사업에 관한 연구)

  • Jo, Kye-Suk;You, In-Ja;Bae, Jung-Hee;Lee, Young-Ja
    • Journal of Home Health Care Nursing
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    • v.4
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    • pp.86-100
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    • 1997
  • The purpose of the study is to evaluate the community rehabilitation program of the two Public Health Center. Data were collected from the 138 clients who received rehabilitation services from visiting public health nurses. Data were analysed by SAS computer program. The result were as follows. 1. The clients have been average 7years disabled state until public health nurse visit them. 78.3% of them can't advance rehabilitation process because of insufficient family or social support. 2. The clients' burden due to their family's help was average 80.0 and that due to economic distresst was average 76.0. That factors were same that interfere rehabilitation process. 3. The clients needed exercise and modality therapy(78.2), economic support(76.0) and rehablitation advices (64.0). The needs of welfare benefit, medical service and social participation were 68.0, 61.5 and 54.5. 4. The pulblic health nurse visited the clients 2.3 time every month. And they have served emotional support (95.7%, exercise therapy (94.9%), family education(82.6%) and blood pressure management (71.7%), One client have received average 60% of the medical rehabilitation services and 27% of the refer services. 5. The rehabilitation effects of clients' attitude, knowledge and practice were 73.3, 81.0 and 68.7. The physical rehabilitation effect was 70.0. After receving rehabilitation services, the clients' preforrence to pulblic health center was 82.0. 6. The clients hopped that public health nurse visit them earlier (80.0). On the basis of this results, the following suggestions are proposed. 1. The pulblic health center is important institution in community rehabilition program, and every pulblic health center must participate in this program. 2. Various strateges have to be tryed and analysed to improve the visiting nurses' rehabilitation services. 3. For successful community rehabilitation, social welfare rehabilitation program must be developed and correlated with that of the pulblic helth center.

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The Effects of Maternal Anxiety and the Teacher-Child Relationship on the Adjustment of 1- and 2-year-old Children in a Child-Care Center (어머니의 분리불안, 교사-영아관계가 만 1.2세반 아동의 어린이집 적응에 미치는 영향)

  • Yang, Suk-Kyung;Moon, Hyuk-Jun
    • Journal of Families and Better Life
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    • v.28 no.2
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    • pp.131-146
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    • 2010
  • This study examined the effects of maternal anxiety and the teacher-child relationship on the adjustment of 1- and 2-year-old children in a child-care center. The subjects were 344 working mothers who were raising 19- to 42-month-old children and 106 class teachers in Seoul, Gyeong-gi and lncheon. Data analysis was done using the SPSS WIN 15.0 version an d the collected data were subjected to a descriptive statistical analysis, t-test, one-way ANOVA, Scheff$\acute{e}$ s post-test and hierarchical multiple regression analysis. The results of this study are as follows : (a) children's adaptability to child-care centers varied with their sex, age, and the existence of siblings. Girls and children of higher age were more adaptable than boys and younger children. Children who have siblings were more adaptable compared to those who were the only child in the family. Also, children who were enrolled at a workplace provided child-care center were more adaptable than those who entered other kinds of child-care centers. (b) The teacher-child relationship influences the adjustment of children in a child-care center. It was found that the teacher-child relationship is the strongest indicator to predict how well the child will adjust to the child-care center.

A Study on the Status of Eating Out and Flour Preference of Some Houses in the Yosu, Chonnam Area (전남 여수시 일부 가정의 외식상태 및 분식 기호도에 관한 조사 연구)

  • 정복미;정해옥
    • Culinary science and hospitality research
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    • v.9 no.2
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    • pp.33-43
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    • 2003
  • This study was carried out to examine the status of eating out and flour preference of some houses in Yosu, Chonnam area. The survey was conducted using a questionnaire in Yosu. The results are as follows. The majority of monthly income of household was 1∼2 million won with 50.1%. The highest family composition was couple and children with 75.6% and the highest number of family member was 3∼4 with 57%. The highest type of housing was an apartment with 67.1% while its ownership was, the highest in self-own with 69.9%. The highest frequency to dine out with a family was once a month and the lower age and higher education background was, the higher frequency to dine out was resulted. The menu was mainly the Korean food. The highest rate of flour-based meals was 2 or 3 times a week. The most popular kind was Ramen.

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