• 제목/요약/키워드: single mother

검색결과 186건 처리시간 0.024초

신성요붕증 가계에서 바소프레신 V2 수용체(AVPR2) 유전자 분석 : AVPR2 유전자 R202C 돌연변이의 발견 (Analysis of Vasopressin Receptor Type 2(AVPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus : Identification of a Family with R202C Mutation in AVPR2 Gene)

  • 박준동;김호성;김희주;이윤경;곽영호;하일수;정해일;최용;박혜원
    • Childhood Kidney Diseases
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    • 제3권2호
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    • pp.209-216
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    • 1999
  • 목적 : 신성 요붕증(Nephrogenic diabetes insipidus, NDI)은 바소프레신(arginine vasoporessin, AVP)에 대한 신세뇨관의 저항성으로 인하여 요농축의 장애를 특징으로 하는 드문 유전성 질환이다. 반성유전형 신성 요붕증은 바소프레신 V2수용체(AVPR2)의 장애에 기인하며, NDI 환자에서 지금까지 다양한 AVPR2의 돌연변이가 보고되었다. 저자들은 임상적으로 반성 유전형 신성 요붕증으로 진단된 가계에서 AVPR2 유전자의 돌연변이를 발견하기 위하여 분자유전학적 검사를 실시하였다. 방법 : 대상환자의 백혈구에서 추출한 DNA로 AVPR2유전자를 polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP)분석하여 이상이 발견된 부분은 클론닝하여 염기서열을 분석하였다. 같은 PCR 산물을 Hae III로 처리하여 PCR-RFLP(restriction fragement length polymorphism) 분석을 하였다. 결과 : AVPR2 유전자를 PCR-SSCP 분석하였을 때 PCR 산물의 정상인과 이동거리의 차이가 발견되어 환아에서 돌연변이가 있고 환아의 어머니는 보인자임을 예측하였고, 염기서열을 분석하여 675번째 염기 A가 G로 치환됨으로 tryptophan이 cysteine으로 바뀌는 R202C 점돌연변이를 발견하였다. 같은 PCR 산물을 PCR-RFLP 분석을 하였을 때 돌연변이로 인한 Hae III의 인지부위의 상실을 확인하였고 환아의 어머니가 이종접합보유자 (heterozygote)임을 확인하였다. 결론 : 저자들은 임상적으로 신성 요붕증으로 확인된 환아와 어머니의 V2 수용체 유전자를 분석하여 R202C 돌연변이를 확인하였다. 신성 요붕증은 진단이 지연되면 성장장애, 정신박약과 사망을 초래할 수 있는 심각한 질환이나, 태생기 또는 신생아기에 진단하면 후유증을 예방할 수 있으므로 조기진단 및 보인자 발견에 분자유전학적 진단 방법을 적극 활용하여야 하겠다.

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쌍태 임신에서 일측 태아의 자궁내 사망이 산모와 생존아에 미치는 영향 (Effects of Single Fetal Death on Mother and Live Co-twin in Twin Pregnancy)

  • 김소연;정해율;백희조;최익선;조창이;최영륜
    • Clinical and Experimental Pediatrics
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    • 제45권12호
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    • pp.1512-1518
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    • 2002
  • 목 적 : 쌍태 임신에서 일측 태아가 자궁내 사망한 경우 생존아의 사망률이 높고 범발성 혈관내 응고병증, 패혈증 및 뇌손상 등을 증가시킨다고 알려져 있다. 본 연구는 일측 태아의 자궁내 사망 후 생존아들의 주산기 합병증 및 이와 연관된 위험 인자들에 대해 알아보고자 하였다. 방 법 : 1995년 1월부터 2000년 12월까지 쌍태 임신 중 일측 태아가 자궁내 사망한 후 생존 출생한 15례의 의무 기록지를 후향적으로 분석하였다. 생존아에서는 말초 혈액과 혈액 응고계 검사, 두부 초음파 및 뇌 자기공영상 검사를, 그리고 산모에서는 말초 혈액과 혈액 응고계 검사 및 임신과 관련된 합병증에 대해 의무 기록지를 통하여 후향적으로 조사하였고, 생존아에서 주산기 합병증에 대한 위험 인자로 융모막 상태, 출생 체중, 재태 주령 및 일측 태아의 자궁내 사망 후 분만까지의 기간에 대해 관찰하였다. 결 과 : 1) 일측 태아의 자궁내 사망 후 생존 출생아 15례의 재태 주령은 $33.7{\pm}3.2$주, 출생 체중은 $1,992{\pm}592g$, 분만까지의 기간은 $32.4{\pm}29.5$일이었고, 조산아 11례(73.3%), 만삭아 4례(26.7%)로 조산의 원인은 조기 진통과 조기 양막 파수가 주였다. 2) 산모에서 시행한 혈액 검사상 범발성 혈관내 응고병증은 1례도 없었고, 산모의 말초 혈액 검사(백혈구수, 혈소판수, PT, aPTT, fibrongen, FDP) 소견과 생존아의 범발성 혈관내 응고병증 및 뇌연화증 발생과는 연관이 없었다. 3) 생존아 총 15례 중 6례(40.0%)는 정상이었고, 범발성 혈관내 응고병증 3례(20.0%), 뇌연화증 3례(20.0%), 자궁내 발육 지연 1례, 쌍태아간 수혈 증후군(recepient) 1례, 선천성 심장기형(심방 중격 결손 및 폐동맥 협착)이 동반된 경우 1례 있었다. 4) 생존 출생아에서 범발성 혈관내 응고장애 및 뇌연화증의 발생은 융모막 상태, 출생 체중, 재태 주령 및 일측 태아의 자궁내 사망 후 생존아 분만까지의 기간과 통계학적 유의성이 없었다. 결 론 : 본 연구에서는 자궁내에서 일측 태아가 사망한 경우 산모에서 혈액학적 이상은 발견할 수 없었고 생존아에서 주산기 합병증을 예측할 수 있는 의의 있는 위험 인자를 발견할 수 없었지만 약 20.0%에서 뇌연화증 및 범발성 혈관내 응고병증이 발생하였기에 쌍태 임신 중 임신 제2, 3기에 일측 태아가 자궁내 사망한 경우 생존 출생아에 대한 면밀한 혈액학적 및 신경학적 검사가 필요하다고 사료되었다.

조기퇴원 수술환자의 병원중심 가정간호 효과 및 비용분석에 관한 연구 (A Study on Effectiveness of the Hospital-based Home Nursing Care of the Early Discharged Surgical Patients and its Cost Analysis)

  • 박경숙;정연강
    • 대한간호학회지
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    • 제24권4호
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    • pp.545-556
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    • 1994
  • Medical insurance and health care delivery system enabled Korean people to get the necessary medical service, but it caused increased needs for medical service, and resulted in the occurence of some problems such as a lack of manpower and medical facilities. In order to solve these problems, many countries, which already had medical insurance system had developed home care system and it has been regarded effective both in reducing costs and in increasing the rates of turnover of bed. Recently, Korea has included home nursing care in its health care delivery system, and some models of the hospital based home nursing care had been tried and its effects had been evaluated. So, author tried to run a home nursing care for the Cesarean section mothers and evaluate Its effects both in the mother's health and costs. This study was designed as a Quasi-experimental study. Subjects were thirty mothers who got Cesarean section operation in hospital in Seoul. Experimental group consisted of 15 volunteers, and control group were selected by means of matching technique. Data were gathered from February 1st to March 26th by two assistants who were trained by author. Experimental group were discharged on the 4th day after their operation, and got nursing care and assessment about their home three times on the 5th, 6th, and 7th day. Control group stayed in the hospital until 7th day as usual and were checked on the same day as above mentioned To evaluate the state of physiological recovery, vital signs, H.O.F, presence of edema in the legs, bathing, appetite, sleep, presence of pain or discomfort in the breasts, amount of lochia, color of lochia, defecation urination. To compare incidence of complication in experimental group with that in control group, specific assessment was done such variables as smell of lochia, presence of inflammation of operation wound, dizziness, and presence of immobilization in the extremities. The activities of daily living were checked Satisfaction of nursing were checked To calculate costs, author asked subjects to specify expenditure including hospital charge, traffic enpenses, and food expenses. The results were as fellows. 1. On effectiveness of home nursing careThere were n significant differences between experimental and control group in incidence of abnormal symptoms and any complication. The number of taking a bath [POD #5 P=0.001, #6 P=0.0003, #7 P=0.001] and the degree of appetite [POD #5 P=0.03, #6 P=0.02, #7 P=0.013] were significantly higher in experimental group than in control group. Contrary to author's expectation, the degree of the activities of daily living in experimental group was not higher than that of control group. All of the experimental group said they were satisfied with the home nursing care. 2. Cost analysis 1) Hospital charge of experimental group was lower than that of control group. [P=0.009] By taking home nursing care, average period of hospitalization was shortened to 3.1 days, and family members could save 22.8 hours. Total amount of money saved by early discharge was 3,443,093 Won. It is estimated that total amount of money saved by early discharge in a year will be 40,398,956 Won. 2) Home nursing care charge of 15 mothers was 1,781,633 Won. It is estimated that total amount of money Saved by it in a year Will be 20,904,493 Won. It was lower altogether than hospital charge of the three days which is 5th, 6th, 7th day of operation. The average cost of single home visit was calculated 10,940 Won. It took 87 minutes per round and it costed 1,017.3 Won. The average hour of home care was 39.0 minutes. 3) It is expected that early discharge can bring forth the increase of hospital income. On the condition that the rate of running bed is 100%, the expected increase of hospital income will be 202,374, 026 Won in a year. Suggestions for further study and nursing practice are as follows : 1. For the welfare of patients and the increased rates of running bed, home nursing care system should be included in the hospital nursing care system. 2. Studies to test effect of home nursing care on the patients with other diseases are needed. 3. Establishment of law on the practice of home nursing care is strongly recommended.

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Selection for Duration of Fertility and Mule Duck White Plumage Colour in a Synthetic Strain of Ducks (Anas platyrhynchos)

  • Liu, H.C.;Huang, J.F.;Lee, S.R.;Liu, H.L.;Hsieh, C.H.;Huang, C.W.;Huang, M.C.;Tai, C.;Poivey, J.P.;Rouvier, R.;Cheng, Y.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제28권5호
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    • pp.605-611
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    • 2015
  • A synthetic strain of ducks (Anas platyrhynchos) was developed by introducing genes for long duration of fertility to be used as mother of mule ducklings and a seven-generation selection experiment was conducted to increase the number of fertile eggs after a single artificial insemination (AI) with pooled Muscovy semen. Reciprocal crossbreeding between Brown Tsaiya LRI-2 (with long duration of fertility) and Pekin L-201 (with white plumage mule ducklings) ducks produced the G0. Then G1 were intercrossed to produce G2 and so on for the following generations. Each female duck was inseminated 3 times, at 26, 29, and 32 weeks of age. The eggs were collected for 14 days from day 2 after AI. Individual data regarding the number of incubated eggs (Ie), the number of fertile eggs at candling at day 7 of incubation (F), the total number of dead embryos (M), the maximum duration of fertility (Dm) and the number of hatched mule ducklings (H) with plumage colour were recorded. The selection criterion was the breeding values of the best linear unbiased prediction animal model for F. The results show high percentage of exhibited heterosis in G2 for traits to improve (19.1% for F and 12.9% for H); F with a value of 5.92 (vs 3.74 in the Pekin L-201) was improved in the G2. Heritabilities were found to be low for Ie ($h^2=0.07{\pm}0.03$) and M ($h^2=0.07{\pm}0.01$), moderately low for Dm ($h^2=0.13{\pm}0.02$), of medium values for H ($h^2=0.20{\pm}0.03$) and F ($h^2=0.23{\pm}0.03$). High and favourable genetic correlations existed between F and Dm ($r_g=0.93$), between F and H ($r_g=0.97$) and between Dm and H ($r_g=0.90$). The selection experiment showed a positive trend for phenotypic values of F (6.38 fertile eggs in G10 of synthetic strain vs 5.59 eggs in G4, and 3.74 eggs in Pekin L-201), with correlated response for increasing H (5.73 ducklings in G10 vs 4.86 in G4, and 3.09 ducklings in Pekin L-201) and maximum duration of the fertile period without increasing the embryo mortality rate. The average predicted genetic response for F was 40% of genetic standard deviation per generation of selection. The mule ducklings' feather colour also was improved. It was concluded that this study provided results for a better understanding of the genetics of the duration of fertility traits in the common female duck bred for mule and that the selection of a synthetic strain was effective method of improvement.

상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리 (Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy)

  • 최희지;이수빈;권혜미;최병옥;정기화
    • 생명과학회지
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    • 제31권10호
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    • pp.913-921
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    • 2021
  • 고관절과 어깨의 점진적인 근육 약화를 특징으로 하는 지대형 근이영양증(limb-girdle muscular dystrophy: LGMD)은 우성 및 열성 유전을 모두 보여주며, TTN을 비롯한 많은 유전자가 발병과 관련된 것으로 알려져 있다. 본 연구는 40대 중반의 늦은 발병을 나타낸 상염색체 열성 LGMD 및 심방 조동의 증상을 가진 한 남성 환자의 유전적 원인을 규명하기 위해 수행되었다. 전장 엑솜 서열분석을 수행하여 환자로부터 TTN 유전자의 복합 이형 접합성 변이의 대립유전자를 동정하였다. 한 대립유전자는 [c.24124G>T (p.V8042F)]의 단일 변이를 보였지만, 다른 대립유전자는 [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]의 세 변이로 구성된 단상형이었다. 대립유전자 중 p.V8042F는 어머니로부터 유전된 반면, 다른 단상형 대립유전자는 아버지로부터 유전된 것으로 추정되었다. 본 연구에서 분리된 TTN 변이들은 공공 인간 유전체 데이터베이스(1,000 Genomes, gnomAD 및 KRGDB)에서 보고되지 않았거나 매우 낮은 빈도로 보고되었다. 대부분의 변이들은 고도로 보존된 면역글로불린 또는 피브로넥틴 도메인에 위치했으며, 일부 in silico 분석에 의해 병원성인 것으로 예측되었다. TTN 거대 단백질은 근육 조립, Z-라인에서 힘 전달, I-밴드에서 안정 장력 유지에 중요한 역할을 한다. 결론적으로, 우리는 이러한 이형접합성 복합 돌연변이의 이중 대립유전자가 LGMD 표현형의 유전적 원인으로서 작용할 수 있을 것으로 제시한다.

"삼국사기(三國史記)"에 기록된 의약내용(醫藥內容) 분석 (Study on Medical Records In ${\ulcorner}$the Historical Records of the Three Kingdoms${\lrcorner}$)

  • 신순식;최환수
    • 제3의학
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    • 제2권1호
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    • pp.35-54
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    • 1997
  • We tried to observe the features of ancient medical practice by analysing the records related to medicine in the book, ${\ulcorner}$the Historical Records of the Three Kingdom${\lrcorner}$ of which content includes the features of medicine in mythology, plague, delivery of twins, drugs, medical system, shamanism, constitutional medicine, psychiatry, forensic medicine, deformity, a spa, medical phrase, health and welfare work, religion, death. physiological anatomy, Taoist medicine, acupuncture, the occult af of transformation and etc. Our initial concern was about where to draw line as of medical field and we defined medicine in more broad meaning. The book ${\ulcorner}$the Historical Records of the Three Kingdoms${\lrcorner}$ describes the world of mythology by way of medicine which is not clearly a conventional one. There appears records of birth of multiple offsprings 7 times in which cases are of triplets or more. Delivering multiple offsprings were rare phenomenon though such fertility was highly admired. This shows one aspect of ancient country having more population meant more power of the nation. Of those medical records conveyed in that book includes stories of childbirth such as giving birth to a son after praying, giving birth to Kim Yoo-shin after 20 months after mother's dream of conception, and a song longing for getting a laudable child. Plagues were prevalent throughout winter to spring season and one can observe various symptoms of plagues in the record. Of these epidemic diseases, cold type might have been more common than the heat one. Appearance of epidemic diseases frequently coincided with that of natural disasters that this suggests a linkage between plague and underlying doctrine on five elements' motion and six kinds of natural factors. There exists only a few names of diseases such as epidemic disease, wind disease, and syndrome characterized by dyspnea. Otherwise there appeared only afflictions that were not specified therefore it remains cluless to keep track of certain diseases of prevalence. Since this ${\ulcorner}$Historical Records of the Three Kingdoms'${\lrcorner}$ wasn't any sort of medical book, words and terms used were not technical kind and most were the ones used generally among lay people. Therefore any mechanisms of the diseases were hardly mentioned. Some of medicinal substances such as Calculus Bovis, Radix Ginseng, Gaboderma Luciderm, magnetitum were also in use in those days. 53 kinds of dietary supplies appears in the records and some of these might have been used as medicinal purpose. Records concerning dicipline of one's body includes activities such as hunting, archery, horseback riding etc. In Shilla dynasty there were positions such as professor of medicine, Naekongbong(內供奉), Kongbong's doctor(供奉醫師), Kongbong's diviner(供奉卜師). As an educational facility, medical school was built at the first year of King Hyoso's reign and it's curricula included various subjects as ${\ulcorner}$Shin Nong's Herbal classic${\lrcorner}$, ${\ulcorner}$Kabeul classic of acupuncture and moxbustion${\lrcorner}$, ${\ulcorner}$The Plain Questions of the Yellow Emperor's Classic of Internal Medicine${\lrcorner}$, ${\ulcorner}$Classic of Acupuncturer${\lrcorner}$, ${\ulcorner}$The Pulse Classic${\lrcorner}$, ${\ulcorner}$Classic of Channels and Acupuncture Points${\lrcorner}$ and ${\ulcorner}$Difficult Classic${\lrcorner}$. There were 2 medical professors who were in charge of education. To establish pharmacopoeia, 2 Shaji(舍知), 6 Sha(史), 2 Jongshaji(從舍知) were appointed. In Baekje dynasty, Department of Herb was maintained. Doing praying for the sake of health, doing phrenology also can be extended to medical arena. Those who survived over 100 years of age appear 3 times in the record, while 98 appears once. The earliest psychiatrist Nokjin differentiated symptoms to apply either therapies using acupuncture and drug or psychotherapy. There appears a case of rape, a case of burying alive with the dead, 8 cases of suicide that can characterize a prototype of forensic medicine. Deformity-related records include phrases as follow: 'there seems protrudent bone behind the head', 'a body which has two heads, two trunks, four arms.', 'a body equipped with two heads' In those times spa can be said to be used as a place for he리ing, convalescence, and relaxation seeing the records describing a person pretended illness and went to spa to enjoy with his friends. Priest doctors and millitary surgeons were in charge of the medical sevice in the period of the Three Kingdoms by the record written by Mookhoja(墨胡子) and Hoonkyeom(訓謙). Poor diet and regimen makes people more vulnerable to diseases. So there existed charity services for those poor people who couldn't live with one's own capacity such as single parents, orphans, the aged people no one to take care and those who are ill. The cause of affliction was frequently coined with human relation. There appeared the phenomenon of releasing prisoners and allowing people to become priests at the time of king's suffering. Besides, as a healing procedure, sutra-chanting was peformed. There appears 10 cases of death related records which varies from death by drowning, or by freezing, death from animals, death from war, death from wightloss and killing oneself at the moment of spouse's death and etc. There also exist certain records which suggest the knowledge of physiology and anatomy in those times. Since the taoist books such as ${\ulcorner}$Book of the Way and Its Power(老子道德經)${\lrcorner}$ were introduced in the period of Three Kingdoms, it can be considered that medicine was also influenced by taoism. Records of higher level of acupuncture, records which links the medicine and occult art of transformation existed. Although limited, we could figure out the medical state of ancient society.

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