• Journal of Gastric Cancer
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• 제12권1호
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• pp.49-52
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• 2012

Through the advent of surgical techniques and the improvement of laparoscopic tools including the ultrasonic activated scissor, laparoscopic gastrectomy has been increasingly used in far more cases of benign or malignant gastric lesions for the benefit of patients without compromising therapeutic outcomes. Even though possible complications provoked by the ultrasonic activated scissor can be prevented during the procedure with increasing advanced laparoscopic experience and supervision, unexpected late complications after the operations rarely occur. An extremely rare case of left incarcerated diaphragmatic hernia of the transverse colon developed in an 81-year-old female patient as a late complication, 8 months after laparoscopy-assisted total gastrectomy for gastric cancer, with laparoscopy successfully resumed and without the need to sacrifice any portion of the bowel.

• 동의생리병리학회지
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• 제16권5호
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• pp.1075-1078
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• 2002

Objective: The management for the stroke should ,given as soon as possible to be effect. But Patients with stroke symptoms commonly delay many hours before seeking medical attention. We evaluated the factors which are related to the time of hospital arrival after acute stroke. Method: Data were obtained from 317 patients admitted to our hospital within 72 hours of stroke onset. We assessed demographic variables, stoke subtype. referral routes. history of previous stroke, level of consciousness, distance from the place where stroke occurred to hospital, and the time interval between onset of stroke and arrival at the hospital. Results: Mean patient age was 65.99±9.57 years. The mean time interval between onset of stroke and hospital arrival was 17.26±18.69 hours and 128 (40.38%) patients arrived within 6 hours. The patients whoes stoke subtype was infarction, who arrived our hospital by way of other hospital, who had no suffered from previous stroke and who showed no impairement of consciousness was arrived at the hospital late(p<0.05). Conclusion: The majority of patients arrive at the hospital after prolonged delays for multiple reasons, and patients with milder symptoms, for whom treatment might be more effective, were less likely to arrive in time for therapy. Our study suggest that effective education about stroke to the patients and public would be highly necessary.

• Asian Pacific Journal of Cancer Prevention
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• 제15권22호
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• pp.9707-9711
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• 2014

Background: Acute lymphoblastic leukemia (ALL) is a complex disease caused by interactions between hazardous exogenous or/and endogenous agents and many mild effect inherited susceptibility mutations. Some of them are known, but their functional roles still requireinvestigation. Age is a recognized risk factor; children with disease onset after the age of ten have worse prognosis, presumably also triggered by inherited factors. Materials and Methods: The MDR1 gene polymorphisms rs1045642, rs2032582 and MTHFR gene polymorphisms rs1801131 and rs1801133 were genotyped in 68 ALL patients in remission and 102 age and gender matched controls; parental DNA samples were also available for 42 probands. Results: No case control association was found between analyzed polymorphisms and a risk of childhood ALL development. Linkage disequilibrium was not observed in a family-based association study either. Only marginal association was observed between genetic marker rs2032582A and later disease onset (p=0.04). Conclusions: Our data suggest that late age of ALL onset could be triggered by mild effect common alleles.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.88-93
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• 2013

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권1호
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• pp.9-13
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• 2017

Tandem mass spectrometry and other new technologies for the multiplex and quantitative analysis of dried blood spots have emerged as powerful techniques for the early screening and assessment of newborns for lysosomal storage diseases (LSDs). Screening newborns for these diseases is important, since treatment options, including enzyme replacement therapy or hematopoietic transplantation, are available for some LSDs, such as infant-onset Pompe disease, Fabry disease, some types of mucopolysaccharidoses (MPSs), and Krabbe disease. For these diseases, early initiation of treatment, before symptoms worsen, often leads to better clinical outcomes. Several problems, however, are associated with newborn screening for LSDs, including the development of accurate test methods to reduce low false-positive rates and treatment guidelines for late-onset or mild disease variants, the high costs associated with multiplex assays, and ethical issues. In this review, we discuss the history, current status, and ethical problems associated with the newborn screening for LSDs, including MPSs.

• Journal of Yeungnam Medical Science
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• 제24권2호
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• pp.322-328
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• 2007

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.1-5
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• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Annals of Clinical Neurophysiology
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• 제4권1호
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• pp.16-20
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• 2002

Background and Objective : Epileptic seizures are frequent complication of lobar hemorrhage. We investigated the factors affecting development of epilepsy following spontaneous lobar ICH. Methods : From January 1986 to July 1999, 114 patients were admitted to Chungnam National University Hospital with spontaneous lobar ICH. We analyzed 75 patients. Excluded were no follow-up(8 patients) and patients died within few days(31 patients). All the patient was followed up at least two years aside from two patients who underwent epileptic seizure and died five and eight months later each. Medical history was obtained through medical record and by telephone interview. Statistical analyses were performed using Chi-square test, Student's t - test, Fisher's exact test. Results : Seizure occurred in 19 patients. As three patients had previous history of seizures, 16 patients(22.2%) showed first onset early- and late-seizures. Early seizure occurred in 14 patients(19.4%). Three out of 14 were heavy alcoholics. Five patients developed late recurrent seizure 61 days to 800 days after the early seizure. Late seizure with no acute seizure occurred in two patients. The types of seizure were diverse as generalized tonic clonic seizure(10), partial seizure with secondary generalization(5), and complex partial seizure(1). The common risk factors for lobar ICH were hypertension(HT), arteriovenous malformation(AVM), and excessive use of alcohol. We could not find any causes in 23 patients. Although size of hematoma, age of onset, sex, incidence of HT or AVM were not different between patients with seizure and without seizure, the history of excessive alcohol drinking was more frequent in patients with seizure. Five patients with late recurrent seizure had ICH involving temporal area. Conclusions : This study suggests that the risk of seizure in patients with lobar ICH was increase in chronic alcoholics and patient with late recurrent seizure had ICH frequently involving temporal area.

• 대한유전성대사질환학회지
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• 제15권3호
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• pp.165-170
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• 2015

저자들은 출생 직후에서 생후 7개월까지는 특별한 과거력 없이 건강하게 지내던 여아에서 생후 11개월에 반복적인 구토 및 간헐적인 의식변화와 경련으로 시행한 검사 결과 고암모니아 혈증 및 소변 orotic acid의 증가를 통해 OTC 결핍증을 진단하고, 분자 유전자 검사로 418번째 염기인 G가 C로 치환되어 140번 아미노산이 alanine에서 proline으로 바뀌는 돌연변이(p. Ala140Pro)를 확인한 1례를 경험하였기에 보고하는 바이다. 본 증례의 돌연변이는 환아의 부모 유전자 분석 결과 정상 소견으로 de novo mutation으로 사료된다. 환아는 출생 후 수 개월간 큰 이상 없이 성장 및 발달을 보였으나 생후 7개월 경부터 주기적인 구토 증세를 보였던 지발형 OTC 결핍증에 해당한다. 진단 후 arginine 및 phenylbutylate를 지속적으로 복용하며 저단백 식이를 유지하는 보존적 치료를 지속하여 현재 발달 및 성장 속도 양호하며 일상생활에 문제없이 지내고 있다. 따라서 출생 후 수개월간 특이 질환력이 없는 환아, 특히 여아에서 주기적인 구토, 기면, 경련 및 혼수 등의 증상을 보일 때 지발형 OTC 결핍증과 같은 대사질환을 의심할 수 있어야 한다. 본 증례는 반복적인 구토 및 의식변화를 보인 기저질환 없는 11개월 여아에서 OTC 결핍증을 진단하고 즉각적인 대처를 통해 7세까지 심각한 신경학적 장애 없이 정상적인 성장과 발달을 보인 환자를 보고하는 바이다.

• 대한정형외과학회지
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• 제54권1호
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• pp.72-77
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• 2019

칸디다 척추 골수염은 드문 질환으로서 과거에는 마약 등 정맥 내 주사제 사용자들에서 발생하는 합병증으로 알려져 왔으나 최근에는 대부분이 병원 내 기회 감염의 형태로 발생되고 있다. 칸디다 척추 골수염의 임상적 및 영상학적 특징이 화농성 척추 추간판염과 유사하기 때문에 일반적인 임상에서 간과되는 경우가 흔하다. 칸디다 척추 골수염에서 다른 원인에 의한 척추 골수염과의 감별진단은 임상적, 영상의학적 및 생물학적 특성에 의존한다. 칸디다 척추염의 치료는 초기의 정확한 진단과 이를 바탕으로 신속하고 적절한 약물 요법, 임상경과의 지속적인 추적관찰로 이루어진다. 본 증례에서 심장 이식술을 받은 젊은 환자에서 수술 후 전신성 진균증 치료 3개월 후 발생한 지연성 칸디다 척추 골수염을 항 진균제 단독요법으로 치료한 2예를 경험하였기에 이를 보고하고 문헌고찰을 통해 상기하고자 한다.