• 제목/요약/키워드: Over weight syndrome

검색결과 65건 처리시간 0.028초

저체중아 출생과 관련된 산모의 특성 연구 (The Study of Maternal Characteristics of Low Birth-Weight Infant)

  • 홍필순;박형숙
    • 여성건강간호학회지
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    • 제5권1호
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    • pp.80-95
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    • 1999
  • The purpose of this study was to investigate the characteristics of low birth-weight infants and their's mothers, and to identify the factors which influenced to delivery of L.B.W infants. The data derived from K. General Hospital and J. obs & gyn clinic in pusan from January, 1998 to August, 1998, which were from mothers of having B. W infants. The factors used for this study were characteristics of general, obstetrical, environmental aspects and physical and psychological life experiences during pregnancy. Analysis of data obtained were computerized statistically by using SPSS 7.5 WIN program. the data were analysed as number, frequency, percentage, t-test and ANOVA. The major results obtained of this study were as follows : 1) Gender that L.B.W infants were male in 47.2% and female in 52.8%, body weight of 2001~2500gm was above 8 in 68.5%, and below 5 in 1.8%. The L.B.W infants with complications were 7, which were 6.5%. The kinds of malformations were the Cleft palate & lip, Hyper-kalemia, Hypoglycemia, Meningocele, CHD, Down syndrome and each of them marked 0.9%. 2) In the general characteristics of pregnant women, the age group of 25~29 years was the most common as 46.3%. Over 35 years of age, elderly gravidas were in 7.5%. the height of 156~160cm was the most common as 52.8%. pregnant women of below 150cm height was in 3.7%. body weight of 51~55kg was the most common as 38%. pregnant women of below 45kg were in 19.4%. The women with smoking and drinking episodes during pregnancy were 1.9% and 25%. In the status of marriage, married women were in 95.4%, unmarried ones were in 1.9%, and unmarried couples were in 2.8%. Iin he obstetrical characteristics of pregnant women, pregnant women with gestational age under 37wks were in 45.4%, and the ones over 38wks were 54.6%. At the methods of delivery, normal spontaneous vaginal deliveries were in 51.9%, which were the most common, cesarian section deliveries were in 47.2%, and breech deliveries were in 0.9%. In the environmental characteristics of pregnant women, 40.8% of pregnant women lived in house or apartments with stairs, 23.1% of them lived in the high altitude. the pregnant women who ran a household without a helper were in 65.7%. In the pregnant women who had underwent life experiences of physical and psychological stress during pregnancy. life experiences of physical stresses were described as persistent fatigue due to lifestyle, traumatic experience, illness, move away with an effort, physical impact caused by discord. life experiments of psychological stresses were describeded as trouble with their husbands, discord with one's husband family, family problems, and conflicts due to environmental factors, etc. The number of the pregnant women who had complications during pregnancy was 32, which was 29.6% totally. Among them, pre-eclampsia was in 12.1% and the premature rupture of membrane in 7.4%. 3) In the analysis of the general, obstetrical, and circumstantial characteristics and L.B.W infants. There were statistical difference significantly between the gestational age of pregnant women(F=12.035, P=.000), and the status of marriage(F=3.207, P=.044), and maternal complication(t=2.344, P=.021) etc.

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White Sport Syndrome Virus Disease of Shirmp and Diagnostic Methods

  • Zhan, Wen-Bin
    • 한국양식학회지
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    • 제15권1호
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    • pp.7-13
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    • 2002
  • Since 1993, the White Spot Syndrome Virus (WSSV) disease occurred in China among cultured shrimps resulting in mass mortality. Epizootiological surveys undertaken during the outbreak period of 1993-1994 indicated that all stages of Penaeus chinensis, P. japonicus and P. monodon were infected. Consequent to the transport of contaminated shrimp seedlings and seawater, the disease spread all over the farms of China. The disease was more rapidly transmitted at temperatures above $25^{\circ}C$. Challenge experiments showed the causative agent was highly virulent. White spots appeared on the carapace of both span-taneous and experimentally infected shrimps. Moribund shrimps contained turbid hemolymph, hypertrophied Iymphoid organ and a necrotic mid-gut gland. Electron microscopy showed the presence of viral particles in the gills, stomach, lymphoid organ, and epidermal tissue of the infected shrimp. The visions were slightly ovoid with an envelope and averaged 350 $\times$ 150 nm; nucleocapsids measured 375 $\times$ 157 nm. With discontinuous sucrose gradient of 35, 50 and 60% (w/v), the virus was separated from hemolymph of the infected shrimp. The estimated molecular weight of genomic DNA was 237 Kb with EcoR I, 247 Kb with Hind III and 241kb with Pst I. A total of 9 hybridoma colones secreting monoclonal antibodies (MAbs) were produced from mouse myeloma and spleen cells immunized with WSSV. The immunofluorescence assay of gill tissue showed that the MAbs reacted with diseased but not with healthy shrimp. The MAbs belonged to IgGl, IgG2b subclass and IgM class, all with kappa light Immune-electron-microscopy with colloidal gold marker showed the presence of 5 MAbs epitopes on the envelope and one on the capsid of the virus. Baculoviral mid-gut gland necrosis showed the specificity of the MAbs produced. For diagnosis 5 different methods were selected. Using Kimura primers for PCR, or MAbs for immunoblot, ELISA or FAT method, in situ hybridization was carried out to show the gene. All these methods detected WSSV in the organ samples of the diseased shrimp but not in healthy one.

감수(甘遂), 과체(瓜蔕)의 임상활용에 관한 후향적 차트리뷰 (A Retrospective Chart Review of the Clinical Use of Euphorbia kansui Radix, Melonis Calyx)

  • 김동현;노지원;정수민;안세영;안영민;이병철;유정화
    • 대한한방내과학회지
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    • 제40권6호
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    • pp.1015-1025
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    • 2019
  • Objectives: There have been many studies reporting the clinical value of Euphorbia kansui Radix or Melonis Calyx, but few systematic studies of the changes that may occur after taking such herbal medication. This study aimed to investigate the characteristics of the patient group, possible changes in blood test and InBody test results, and to discover the current state and future direction of clinical use of Euphorbia kansui Radix or Melonis Calyx. Methods: This study investigated patients who were hospitalized at Kyung-Hee University Korean Medicine Hospital for at least two days from 1 March 2016 to 1 March 2019, specifically evaluating patients aged 19 and over who underwent blood tests, including an electrolyte test and an InBody test before and after taking Euphorbia kansui Radix or Melonis Calyx. Results: Among a total of 134 patients, 72 patients (53.7%) were treated with Euphorbia kansui Radix and 62 patients (46.3%) were treated with Melonis Calyx, in the context of previously diagnosed abnormal weight gain. Laboratory findings were that Na and K levels were significantly reduced in both groups. In an InBody test, body mass index (BMI), intracellular water, extracellular water, protein, mineral, and skeletal muscle were significantly reduced in both groups. Conclusions: From these results, we suggest that, although Euphorbia kansui Radix and Melonis Calyx may not induce serious adverse effects, attention should be paid to the electrolyte level with the use of these treatments. In terms of syndrome differentiation, more clinical uses will be available in the future.

Introduction to the New Version of PWS Application and It's Use in Medical Practice

  • Kim, Jinsup;Yang, Aram;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of mucopolysaccharidosis and rare diseases
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    • 제2권2호
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    • pp.41-42
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    • 2016
  • Today's mobile phones and tablet PCs offer a considerably wider range of functionalities than before. Mobile applications (apps) are increasingly used for managing various daily health tasks. Currently, more than 165,000 health-related apps are offered on all the stores of different platforms. Pf Jin and the Association for Research on MPS and Rare Diseases (AMARD) have helped Prader-Willi syndrome (PWS) families through medical information and family support since 2015. AMARD developed the first mobile application for Korean patients with PWS, which was released to a limited number of patients under the age of 3 and only provided to Android users. The first version of the PWS application focused on growth hormone therapy and the assessment of growth and development by parents in infant and early-childhood PWS patients. The 2016 version of the PWS application has been improved in many different ways. We have expanded the subjects of the application to late childhood and adolescent groups, changed the user interface accordingly, and made the application available for iOS users. We will show the specialized growth curves of older children with PWS. Therefore, patients with PWS over the age of 3 and their parents can assess the patients' growth. Additionally, we have upgraded the growth hormone therapy menu by improving the input system for the growth hormone therapy injection schedule and the daily growth profile (height and weight). We expect that the new version of the PWS application will help many PWS families cope with growth hormone therapy and evaluate the effects of growth hormones in better ways. Additionally, we are making a constant effort to provide more useful information about patients with PWS in many aspects.

일부 농촌지역 비닐하우스 재배자들의 농부증 실태와 관련요인 (A Study on Farmer's Syndrome and Its Risk Factors of Vinyl House Worker and Farmer in a Rural Area)

  • 이인배;이연경;장성실;이석구;조영채;이동배;이태용
    • 농촌의학ㆍ지역보건
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    • 제24권1호
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    • pp.13-33
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    • 1999
  • 충청남도 청양군의 2개면 14개리에 거주하는 비닐하우스 재배자 177명과 일반 농민 213명을 대상으로 1998년 2월 24일부터 3월 15일까지 피로도, 주관적 건강상태, 농부증과 이의 위험요인을 파악하기 위하여 설문조사를 실시한 결과는 다음과 같다. 1. 피로도는 비닐하우스 재배자와 일반 농민간에 차이가 없었으며, 성별로는 여자가 남자보다(p<0.01), 교육수준이 낮을수록(p<0.01), 8시간 미만의 수면시간 (p<0.05), 비흡연자, 비음주자에서 피로도가 높았고, 연령, 식생활습관, 체질량지수는 관계가 없었다. 작업환경은 비닐하우스 재배자에서 총농사기간(r=0.159, p<0.05), 일반 농민은 총경작면적(r=-0.143, p<0.05)과 농작업동반가족수(r=-0.136, p<05)에서 약한 상관관계를 보였다. 2. 주관적 건강상태는 비닐하우스 재배자와 일반 농민간에 차이가 없었으며, 성별로는 여자가 남자보다(p<0.01), 교육수준이 낮을수록 (p<0.01), 8시간 미만의 수면시간(p<0.05), 비흡연자에서 주관적 건강상태가 좋지 않았으며, 연령, 음주, 식생활습관, 체질량지수, 작업환경은 관련성이 없었다. 3. '농부증 있음'은 비닐하우스 재배자 49.2%, 일반 농민 52.1%로 비슷하였으며, 성별로 비닐하우스 재배자와 일반 농민 모두 여자에서 57.0%, 58.8%로 남자 37.1%, 40.3%보다 높았다(p<0.01). 교육수준은 비닐하우스 재배자의 경우 무학 58.1%, 초등학교 50.0%, 중졸 이상 36.1%로 학력이 낮을수록 높았고(p<0.01), 일반 농민도 각각 56.3%, 51.0%, 33.3%로 같은 경향이었다(p<0.01). 흡연과 음주여부는 비닐하우스 재배자의 경우 비흡연군과 비음주군에서 높았으나, 일반 농민에서는 차이가 없었고, 체질량지수도 비닐하우스 재배자의 경우 세장형 57.1%, 비만형 63.9%로 정상형 42.5%보다 높았으나(p<0.05), 일반 농민은 차이가 없었다. 4. 농부증의 위험요인에 대한 다변량 로지스틱 회귀분석에서 성별, 수면시간이 중요한 요인이었으며, 남자를 기준하였을 때 여자의 교차비는 2.53(p<0.01), 수면시간 8시간 미만을 기준하였을 때 8시간 이상은 0.74로(p<0.01), 여자에서 발생위험이 높았고, 수면시간이 8시간 이상일수록 발생위험은 낮아졌다. 5. 비닐하우스 재배지와 일반 농민에서 많이 호소하는 주관적 신체증상은 '등이 결리거나 허리가 아파서 일하기가 어렵다.' '팔과 다리가 몹시 쑤시고 아픈 일이 있다', '손발이 저리거나 찌릿찌릿 하다'. '팔과 다리에 통증이 있어서 불편하다' '손의 힘이 전에 비해 약해졌다'에서 과반수 이상이 있다고 응답하였으며, 비닐하우스 재배자에서 일반 농민보다 많은 증상은 '피부의 일부분이 검게 변하였다'. '습진이나 무좀 등이 피부질환이 있다', '치질로 고생한 일이 있다'였다. 6. 대응분석 결과 비닐하우스 재배자는 피부계 질환이 높게 관찰되었으며, 남자는 소화기계 장애나 기타 질환, 여성에서는 내분비질환, 근육계통의 질환이 많은 것으로 나타났고, 농부증도 일반 농민과 여자에서 상대적으로 높은 것으로 나타났다. 결론적으로 피로도, 주관적 건강상태, 농부증도 비닐하우스 재배자와 일반 농민간에 차이가 없었으며, 주로 농사와 노동일을 병행하는 여성에서 많고, 연령이 증가함에 따라 유병률도 증가하는 경향을 감안하면 추후 농촌의 노령환된 여성들에 대한 중점적인 관리가 필요하다. 또한 작업환경의 차이에 의하여 비닐하우스 재배자에서만 나타나는 미약하지만 특징적인 증상이 있으므로 이에 대한 지속적인 조사와 관리의 필요성이 있다.

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Pharmacologic therapy for nonalcoholic steatohepatitis focusing on pathophysiology

  • Yoon, In Cheol;Eun, Jong Ryeol
    • Journal of Yeungnam Medical Science
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    • 제36권2호
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    • pp.67-77
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    • 2019
  • The paradigm of chronic liver diseases has been shifting. Although hepatitis B and C viral infections are still the main causes of liver cirrhosis and hepatocellular carcinoma (HCC), the introduction of effective antiviral drugs may control or cure them in the near future. In contrast, the burden of nonalcoholic fatty liver disease (NAFLD) has been increasing for decades, and 25 to 30% of the general population in Korea is estimated to have NAFLD. Over 10% of NAFLD patients may have nonalcoholic steatohepatitis (NASH), a severe form of NAFLD. NASH can progress to cirrhosis and HCC. NASH is currently the second leading cause to be placed on the liver transplantation list in the United States. NAFLD is associated with obesity, type 2 diabetes, dyslipidemia, and metabolic syndrome. The pathophysiology is complex and associated with lipotoxicity, inflammatory cytokines, apoptosis, and insulin resistance. The only proven effective treatment is weight reduction by diet and exercise. However, this may not be effective for advanced fibrosis or cirrhosis. Therefore, effective drugs are urgently needed for treating these conditions. Unfortunately, no drugs have been approved for the treatment of NASH. Many pharmaceutical companies are trying to develop new drugs for the treatment of NASH. Some of them are in phase 2 or 3 clinical trials. Here, pharmacologic therapies in clinical trials, as well as the basic principles of drug therapy, will be reviewed, focusing on pathophysiology.

종합병원 분만아의 신생아실 재원기간중 건강상태에 관한 연구 - 질환발생과 제요인과의 관계를 중심으로 - (A Study on the physical Status of New Born Babies in Nursery at a Hospital in Seoul. - For Relationship between Neonatal Diseases and risk factors. -)

  • 박애경
    • 한국보건간호학회지
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    • 제2권2호
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    • pp.81-98
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    • 1988
  • The purpose of this study was to fine out the general physical status of the neonates, and to identify the risk factors of the mothers and the neonates which were significantly related to the neonatal diseases during hospitalization. The data were obtained from clinical records of 1098 neonates born in Seoul Red cross Hospital between January 1st of 1984 and December 31th of 1986. The results of this study were summarized as follows: 1. General characteristics of the maternal group. 1) The average of maternal age was 26.6 years, the $91.7\%$ of the mothers de liveried at the age of 20-34 years old. 2) The distribution of the types of delivey were as follows : spontaneous delivery $39.9\%$, cesarean section $32.4\%$, vaccum extraction $25.7\%$, and breech delivery$2.0\%$. 3) The $40.3\%$ of the total de liveried mother had experienced abortion. 4) The $42.3\%$ of the total deliveried mother had one or more obstetric risk factors. 2. General characteristics of the neonatal group. 1) In the distribution of sex, male was $49.4\%$, female $50.6\%$. 2) The average of birth weights was 3,020gm. The distribution of birth weight were as follows; nomal weight $85.5\%$, low birth weight $12.7\%$ and high birth weight $2.5\%$. 3) The average of gestational age was 39.2 weeks. The distribution of gestational age were as follows; full term $77.4\%$, preterm $13.7\%$, and postterm $8.9\%$. 4) The average of Apgar Score was 9.0 at one minute and 9.6 at five minutes. 5) The $5.7\%$ of the neonates had one or more neonatal risk symptoms and signs at birth. 3. Apgar Score by the maternal and neonatal factors. In Apgar Score at one minute, normal group was higher than that of abnormal group. Apgar Score at five minutes was slightly higher than that at one minute. 4. The distribution of the maternal risk factors and the neonatal risk factors. 1) The total numbers of the maternal risk factors were 1376. The distribution of the maternal risk factors were as follows: obstetric factor $33.7\%$, abortion $32.2\%$, breech and cesarean section delivery $27.5\%$ and maternal age under 19 years and over 35 years $6.6\%$. 2) The total numbers of the neonatal risk factors were 517. The distribution of the neonatal risk factors were as follows: gestational age under 37 weeks and over 42 weeks $48.0\%$, birth weight under 2500gm and over 4000gm $12.2\%$, Apgar score under 4 at one munute $6.4\%$ and Apgar score at five munutes $2.7\%$. 3) The total numbers of the obstetric risk factors were 661. The types of the obstetric risk factors were meconium stained amniotic fluid $22.0\%$, premature rupture of membrane $17.5\%$. absence prenatal care $14.1\%$, unmarried pregnancy $10.3\%$, placenta problem $9.0\%$, toxemia $8.0\%$. 4) The total numbers of the neonatal risk symptoms and signs at birth were 83. The types of the neonatal risk symptoms and signs were respiratory distress $65.1\%$, neonatal apnea $14.4\%$, convulsion $13.3%$, meconium aspiration syndrome $4.8\%$, cyanosis $2.4\%$. 5. The relationship between the maternal risk factors and the neonatal risk factors. 1) Maternal age under 19 years or over 35 years was significantly related to Apgar Score under 4 at 5 minutes. 2) Breech delivery or cesarean section was significantly related to neonatal risk factor at birth such as birth weight, gestational age, Apgar Score at one minute and at five minutes. and neonatal risk symptoms and signs. 3) Obstetric risk factors were significantly related to the neonatal risk factors at birth. 4) Abortion was not related to the neonatal risk factors. 6. The relationship between neonatal diseases during hosptalization and the maternal or the neonatal risk factors. 1) The total numbers of neonatal diseases during hospitalization were 281. The distribution of neonatal diseases were as follows: birth trauma $38.1\%$, infectious disease $31.3\%$, hematologic disease $21.4\%$, respiratory disease $6.0\%$, neurologic disease $2.5\%$. cardiovascular disease $0.7\%$. 3) Most maternal risk factors except abortion were significantly related to neonatal diseases. 4) Most neonatal risk factors at birth were significantly related to neonatal diseases.

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여대생의 월경전증후군과 영양소 섭취량 및 혈액성상과의 관련성에 관한 연구 (A Study on Relation between Premenstrual Syndrome (PMS) and Nutritional Intake, Blood Composition of Female College Students)

  • 김성희;이주희
    • 대한지역사회영양학회지
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    • 제10권5호
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    • pp.603-614
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    • 2005
  • This study was performed to investigate the correlation between Premenstrual syndrome (PMS) and nutritional intake, blood composition of female students. One hundred and one female students were selected as the experimental subjects at Gyeongsang National University. To assess the PMS symptoms of the subjects, a questionnaire (PAP) score based on the methods of Halbreich, Endicor and Nee was prepared with 34 different items. Dietary survey was conducted by 24­hour recall method for 3 days and nutrient intakes were analyzed by the CAN-Pro. Blood composition of WBC, RBC, Hb, Hct, Ca and Mg was measured. The average height, weight and BMI of subjects were $160.7\pm4.6cm,\;54.1\pm5.7kg\;and\;21.2\pm1.9$, respectively. Average intakes of energy, calcium, iron, zinc, vit $B_2$, and folic acid per day were $1810.2\pm344.9kcal(90.5\%\;of\;RDA),\;621.1\;197.3mg(88.7\%\;of\;RDA),\;15.9\;pm4.9mg\;(99.3\%\;of\;RDA),\;8.1\pm3.4mg(80.5\%\;of\;RDA),\;1.1\pm0.6mg(88.3\%\;of\;RDA)\;and\;234.3\pm78.6{\mu}g(93.7\%\;of\;RDA)$, respectively. Score of the behavioral symptoms, psychologic symptoms, physical symptoms and other symptoms were recorded $1.79\pm0.86,\;2.11\pm1.08,\;2.31\pm1.11\;and\;1.58\pm0.86$, respectively. The relation between PMS and menstrual cramps was significant. A significant difference was observed for menstruation amount in physical symptoms (p<0.05) and other scores (p<0.05). The group who drinks alcohol over 30g per day showed higher scores at total PAP (p<0.05), psychologic symptoms (p<0.05), physical symptoms (p<0.05), and other scores (p<0.05) than those who don't drink alcohol. Calcium in the blood showed a negative correlation with total PAF score (p<0.05), behavioral symptoms (p<0.05), physical symptoms (p<0.05) and other scores (p<0.01). Magnesium in the blood showed a negative correlation with physical symptoms (p<0.05), other score (p<0.05). WBC was negatively associated with psychologic scores (p<0.05). Hb and Hct were negatively associated with other scores (p<0.05). In conclusion, calcium intake showed a level of $88.7\%$ of RDA and this study revealed that there is a correlation between PMS and blood composition in female college students. Therefore, calcium and magnesium supplements can be beneficial to relieve PMS symptoms.

The efficacy and safety of Dendropanax morbifera leaf extract on the metabolic syndrome: a 12-week, placebo controlled, double blind, and randomized controlled trial

  • Jun, Ji Eun;Hwang, You-Cheol;Ahn, Kyu Jeung;Chung, Ho Yeon;Choung, Se Young;Jeong, In-Kyung
    • Nutrition Research and Practice
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    • 제16권1호
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    • pp.60-73
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    • 2022
  • BACKGROUND/OBJECTIVES: The extract from Dendropanax morbifera exhibited diverse therapeutic potentials. We aimed to evaluate the efficacy and safety of D. morbifera leaf extract for improving metabolic parameters in human. SUBJECTS/METHODS: A 12-week, double blind, placebo-controlled and randomized trial included a total of 74 adults, and they were assigned to the placebo group (n = 38) or 700 mg/day of D. morbifera group (n = 36). The efficacy endpoints were changes in glycemic, lipid, obesity, and blood pressure (BP) parameters, in addition to the prevalence of metabolic syndrome (MetS) and the numbers of MetS components. Safety was assessed by monitoring adverse events (AEs). RESULTS: After 12 weeks of treatment, the hemoglobin A1c (HbA1c) level significantly decreased in the D. morbifera group compared to that of the placebo group (difference: -0.13 ± 0.20% vs. 0.00 ± 0.28%, P = 0.031; % of change: -2.27 ± 3.63% vs. 0.10 ± 5.10%, P = 0.025). The homeostatic model assessment for insulin resistance level also decreased significantly from its baseline in the D. morbifera group. The systolic BP of D. morbifera group decreased significantly than that of placebo group (difference: -3.9 ± 9.8 mmHg vs. 3.3 ± 11.7 mmHg, P = 0.005; % of change: -2.8 ± 7.7% vs. 3.3 ± 10.2%, P = 0.005). However, the lipid parameters and body composition including body weight did not differ between the groups. The prevalence of MetS (36.8% vs. 13.9%, P = 0.022) and the incidence of MetS (10.5% vs. 13.9%, P = 0.027) at 12 weeks was significantly lower in the D. morbifera group than it was in the placebo group. No serious AEs occurred in either group. CONCLUSIONS: Supplementation with D. morbifera extracts over a 12-week period improved metabolic parameters such as HbA1c and BP and reduced the prevalence of MetS.

Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰 (Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome)

  • 이지은;문광빈;황종희;권은경;김선희;김종원;진동규
    • Clinical and Experimental Pediatrics
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    • 제45권9호
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    • pp.1126-1133
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    • 2002
  • 목 적 : Prader-Willi 증후군(PWS)은 특징적 임상 증상을 보이는 복합적인 다기관 질환이며 유전적으로 는 부친으로부터 유래한 15번 염색체 15q11.2-13의 결함이 원인으로 밝혀진 바 있다. 과거 심한 비만에 이르기 전에는 진단이 불가능하였으나 최근 분자 유전학과 세포 유전학의 발달로 많은 환자들이 조기 진단되는 추세다. 이에 저자들은 Prader-Willi 증후군 환자들의 임상 양상 및 유전학적 원인을 분석하여 향후 조기 진단 및 치료에 도움을 주고자 본 연구를 시행하였다. 방 법: 1997년 9월부터 2001년 9월까지 삼성서울병원 소아과 유전 대사 클리닉에서 Prader-Willi 증후군으로 진단된 24례의 환자를 대상으로 후향적인 연구를 시행하였다. 임상 양상에 대한 조사는 병원 기록에 대한 검토를 통하여 출생력, 진단시 연령 및 성별, 병원 첫 방문시의 주소, 연령별 분포도, 진단 기준에 따른 임상적 특징, 동반된 질환 등에 대한 결과를 분석하였다. 유전자적 진단으로는 고해상도 염색체 분염법과 형광결합보체법를 이용하여 유전자 결손을 확인하였고 SNRPN의 CpG island에 대한 methylation- specific PCR을 시행하여 모친으로부터 유래한 174 염기쌍만이 존재하는 경우에 Prader-Willi 증후군으로 진단하였다. 결 과 : 1) 평균 출생 체중은 $2.67{\pm}0.47kg$이었고 진단시 중앙연령은 1.3세로서 24례 중 17례(70.8%)가 최근 2년간 진단되었다. 2) 진단시 연령이 1세 미만의 경우 체중과 키가 평균 3-10 백분위수를 보였고 2-6세 사이에는 신장에 비해 체중이 급격하게 증가하는 비만이 나타났다. 3) 부모가 환자에게 이상을 느껴 내원한 원인으로는 수유곤란을 동반한 저 긴장증, 불명열, 정신지체를 동반한 비만, 발달 지연 순이었다. 4) 진단 기준에 따른 임상적 특징으로 수유곤란 및 성장 장애, 영아기의 근 긴장도 저하가 가장 많은 빈도 (95.8%)를 나타냈으며 산전 태동의 미약함, 작은 손과 발 등이 그 다음 빈도를 나타내었다. 진단 기준의 점수는 진단시 3세 미만의 환자군 17례에서 평균 $7.1{\pm}1.5$점, 3세 이상의 환자군 7례는 평균 $9.6{\pm}1.5$점이었다. 5) 진단 기준의 임상적 특징 항목 외에 동반되는 질환으로 잦은 호흡기 감염(33.3%)이 가장 많았고 그외 선천성 심질환, 위식도역류 등이 있었다. 6) 대상 환아 24례의 염색체 분석 결과 15번 염색체 장완의 부분 결손이 75%(18례)이며 이중 5%(1례)가 14번 염색체와 15번 염색체의 로버트슨 전위를 보였다. 세포유전학적으로 이상이 없었던 16.7%(4례)는 모친으로부터의 이체성(maternal UPD)이 원인으로 보이며 나머지 8%(2례)는 기타 소견을 보였다. 결 론 : 영아기나 신생아기에 발생한 근 긴장도 저하와 수유곤란이 있는 경우 PWS을 감별 진단하는 것이 중요하며 질환의 특성상 특징적 임상 소견들이 연령의 증가에 따라 현저해지기 때문에 의심되는 환아에서 유전학적인 검사가 조기에 필요하다. 또한 15번 염색체 장완 일부의 결손이 75%로 유전적인 원인 의 대다수를 차지하고 있었으며 복잡하고 다양한 유전적 원인을 가진 질환으로 향후 지속적인 유전학적 연구가 필요하다.