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경한 임상 경과를 보인 신생아 시기의 프로피온산혈증 1례 (A Case of Neonatal Onset Propionic Acidemia with Mild Clinical Presentations)

  • 김경란;김진섭;허림;박형두;조성윤;진동규
    • 대한유전성대사질환학회지
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    • 제16권1호
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    • pp.47-51
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    • 2016
  • 프로피온산혈증은 상염색체 열성유전에 의해 발생하는 질환으로, 혈중에 암모니아, 독성 물질 등이 축적되어 경한 증상에서부터 사망에까지 이르는 질환이다. 유병률은 50,000-100,000명당 1명이다. PCCA 또는 PCCB 유전자의 돌연변이로 발생하며, 이것을 규명하는 것이 가장 확실한 진단 방법이다. 두 유형에 따른 임상경과 차이는 뚜렷하게 밝혀져 있지 않다. 발병 시기에 따라 신생아기형과 후기형으로 나눌 수 있다. 증상 발현의 원인은 이화작용을 강화시키는 감염, 스트레스, 변비, 단백질의 과도한 섭취 등이며, 운동실조, 이상행동, 식욕부진, 주기적 구토, 성장장애, 신경발달이상 등의 광범위한 임상 경과를 보인다. 정확한 진단과 조속한 초기 치료가 환자의 생존율 및 신경 발달 장애 여부에 중요한 요소이다. 본 증례는 고암모니아혈증 및 대사산증이 심하지 않았으나 조기에 대사성 질환을 염두에 두고 PCCA와 PCCB 유전자의 돌연변이를 분석하여 프로피온산혈증을 진단하고 적극적인 금식 및 수액 치료와 진단을 통해 신체 발달 및 운동 및 치명적인 신경학적 장애 없이 성장한 고무적인 사례로 이를 보고하는 바이다.

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A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

  • Park, Min Ji;Lee, Dong Hun;Shin, Young Lim;Hong, Yong Hee
    • Journal of Genetic Medicine
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    • 제13권1호
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    • pp.41-45
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    • 2016
  • Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

초저열량 식이와 한방비만치료를 통한 당뇨 개선 1례 보고 (Improvement of Type II Diabetes by Very-low-calorie Diet - A Case Report)

  • 김길수;김호준
    • 한방비만학회지
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    • 제2권1호
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    • pp.83-87
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    • 2002
  • Increasing body weight is closely associated with increasing risk for glucose intolerance and type II diabetes. Especially, abdominal distribution of weight and visceral obesity also seriously increase the morbidity and mortality. Dietary program including very-low-calorie diet(VLCD) is regarded as most effective in the control of obesity and diabetes, which mainly due to calorie restriction rather than weight loss itself. We are reporting a case of diabetes with obesity whose fast glucose was over 220 mg/dl and BMI was $25.1kg/m^2$(fat rate 32.8%, WHR 0.9). She was prescribed VLCD and oriental medical diet program. After 10 days of hospitalization, her glucose level dropped dramatically with 3kg loss of body weight She has further lost her weight until about 53kg, but the glucose level ceased to go down probably due to loosened calorie restriction.

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Characteristics of Signature Bonnie Cashin Designs

  • Kim, Injoo;Lee, Seung A;Sarofeen, George F.
    • International Journal of Costume and Fashion
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    • 제15권1호
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    • pp.51-74
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    • 2015
  • The purpose of this exploratory research is to study Cashin's fashion philosophy and to draw her design characteristics through analysis of her work. As a result of this research, 76 garment pieces were selected from the 180 Bonnie Cashin collections at the University of Cincinnati to document and evaluate. The final selection includes: sixteen jackets, fifteen skirts, five pants, five tops, seven dresses, twenty five coats, and three capes. Bonnie Cashin specialized in practical and functional; yet innovative designs such as leather trimmed tweed Jackets/coats, canvas raincoats, suede leather coats, and ponchos. Her trademark elements include toggle closures, oversized pockets, her Noh coats, tweed suits, canvas raincoats, fringed suede dresses, funnel neck pullovers, jersey dresses, and ponchos. She emphasized function and comfort and she believed that a good design must also be practical. The examination of these 76 pieces from the University of Cincinnati's private Bonnie Cashin Collection brings to light Bonnie Cashin's creative design and what she represented in the development of American fashion design in the $20^{th}$ century.

최면요법을 이용한 수면보행장애 환자 치험 1례 (A Case Report of Sleepwalking Disorder with Hypnotherapy)

  • 최우진;정명숙;이승기;김현동
    • 동의신경정신과학회지
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    • 제20권3호
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    • pp.273-282
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    • 2009
  • Objectives : The symptoms of Sleepwalking disorder include getting up, walking, talking, and even eating in one's sleep or sleep-like state. The patients do not realize what they have done. It is accepted that there is no specific treatment for this disorder. Some medications and psychotherapies including hypnotherapy have been used in various situations. In this study, the hypnotherapy was used on a 46-year-old female patient. Method : She had been suffering from insomnia, nightmares, and sleepwalking for over a year. Through hypnotherapy, she was able to express her anger towards people who had hurt her in the past. Also, through regression and trance logic, she was able to reconcile with her mother who had passed away. Result and Conclusion : As a result, her sleepwalking disappeared and other psychological problems such as depression and anxiety were reduced effectively.

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자궁내막증 환자의 치험 1례 (A case report of the effectiveness of endometriosis.)

  • 조현정;조성희;박경미;양승정
    • 대한한방부인과학회지
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    • 제20권4호
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    • pp.202-209
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    • 2007
  • Purpose: The purpose of this study was to report the clinical effectiveness of Traditional Korean Treatment on infertility patients with endometriosis. Methods: The patient in this case was 32 years-old female. The chief complains were lower abdominal pain, dysmenorrhea, infertility with endometriosis. She was treated by Traditional Korean Medicine, acupuncture and retention enema therapy. So the symptom of she complained was improved. Results: After the retetion enema therapy and Traditional Korean Medicine, the lower abdominal pain and dysmenorrhea of endometriosis was improved. And she was pregnant and delivered. Conclusion: This case study shows that the retetion enema and Traditional korean therapy were effective in treating endometriosis and fertility. So we make more studis about this disease, it will bring the high satisfaction of patient and the improvement of treatment rate.

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Alprazolam 과용으로 발생한 횡문근융해 1례 (A Case of Rhabdomyolysis after Alprazolam Overdose)

  • 기성호;박현주;최웅길;노형근
    • 대한임상독성학회지
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    • 제2권2호
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    • pp.151-153
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    • 2004
  • Causes of rhabdomyolysis can be divided into traumatic and nontraumatic, Among the nontraumatic rhabdomyolysis, it is known that ingestion of drugs is one of the common causes. However, there have been few reports that benzodiazepine overdose causes rhabdomyolysis, moreover there was no report about rhabdomyolysis after alprazolam overdose. We experienced a case of rhabdomyolysis after alprazolam overdose. A 51-year-old woman was brought to the emergency room 11 hours after ingestion of 30 tablets (15 mg) of alprazolam in a suicidal attempt. On admission she was comatose and her CK level was 8,290 lUlL. The CK level increased up to 25,598 IU/L 10 hours after admission, but she became alert on the third day. Subsequently the CK level decreased gradually with supportive care without renal impairment and she discharged from the hospital on the $10^{th}$ day. Although a pressure effect on the dependent portion of the body due to mental alteration before admission might have caused the rhabdomyolysis, the alprazolam, per se, cannat be ruled out for the cause.

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전증(癲證)을 동반한 졸중풍(卒中風) 환자 치험1례 (A clinical report of cerebral infarction patient with schizophrenia)

  • 오경민;양동호;김보경
    • 동의신경정신과학회지
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    • 제18권3호
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    • pp.209-224
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    • 2007
  • Metabolic syndrome consists of several risk factors of metabolic origin like elevated blood pressure, abdominal obesity, elevated triglyceride concentrations, decreased HDL-cholesterol concentrations, and elevated fasting glucose. It appear to directly increase the development of atherosclerotic cardiovascular diseases which leading to cardiovascular diseases in later life. This 39 years female patient was diagnosed schizophrenia at the age of 17. but she didn't take reasonable treatments. during 20 years, she stayed in home and lived unsuited life with her family. As a result she gains heavy weight and centeral obesity, diabetic mellitus and hypertention, and developed cerevral vascular accident twice. This patient was treated with herb medication, acupuncture, western medication, psychotherapy primarily in focusing of pre-illness state(未病) as well as the stagnation of phelm. During 140 days of treatment from admission, before 2nd attack tbe patient showed improvement of Lt. hemiparesis but after second attack improved a little. And symptom of schizophrenia improved considerably. Also diet habit changed.

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판각형 열교환기내의 R-134a 응축열전달 특성에 관한 실험적 연구 (Experimental Study on R-l34a Condensation Beat Transfer Characteristics in Plate and Shell Heat Exchanger)

  • 이기백;박재홍;서무교;이희웅;김영수
    • Journal of Advanced Marine Engineering and Technology
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    • 제27권1호
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    • pp.108-116
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    • 2003
  • In this paper, the experimental results of condensation heat transfer were reported for the plate and shell heat exchangers(P&SHE) using R-l34a. An experimental refrigerant loop has been established to measure the condensation heat transfer coefficient of R-l34a in a vertical P&SHE. Two vertical counter flow channels were formed in the P&SHE by three plates of geometry with a corrugated trapezoid shape of a chevron angle of 45$^{\circ}$. Downflow of the condensing R-l34a in one channel releases heat to the cold up flow of water in the other channel. The effect of the refrigerant mass flux, average heat flux, system pressure and vapor quality of R-l34a on the measured data were explored in detail. The results indicate that at a higher vapor quality the condensation heat transfer coefficients are significantly higher. Condensation heat transfer coefficients were increased when the refrigerant mass flux was increased. A rise in the average heat flux causes an slight increase in the hr. Finally, at a higher system pressure the hr is found to be lower. Correlation is also provided for the measured heat transfer coefficients in terms of the Nusselt number.

뇌경색 후 발병한 급성심근경색증 환자에 대한 임상보고 1례 (A case study of Acute Myocardiac Infarction to follow cerebral infarction)

  • 박진용;이운석;김용찬;오용성;임명현;신민규;김은영;김수정;정명걸
    • 대한한방내과학회지
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    • 제22권4호
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    • pp.755-759
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    • 2001
  • Acute Myocardica Infarction has high mortality and bad prognosis. We treated a 68 year-old female patient of acute myocardiac infacrtion to follow cerebral infarction. The chief complainment is right hemiplegia, dyspnea, chest discomfort, palpitation, anxiety, insomnia. The prognosis cannot be good, Because she has anterior wall infarction, cardiomegaly, conduction block, hypertention and she is 68 years old. We treated her with chiefly Nogyongdaebo-tang and Gongjin-dan, and gradually increased momentum. also we used self west medicine. The chief complainment was improved. She became to do cane walking by herself.

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