• 대한유전성대사질환학회지
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• 제2권1호
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• pp.77-79
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• 2002

The urea cycle, consisting of a series of six enzymatic reactions, plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Five well characterized diseases have been described, resulting from an enzymatic defect in the biosynthesis of one of the normally expressed enzyme. This presentation will focus on two representative diseases; ornithine transcarbamylase(OTC) deficiency and citrullinemia(argininosuccinate synthetase deficiency). OTC deficiency is one of the most common inborn error of urea cycle, which is inherited in X-linked manner. We identified 17 different mutations in 20 unrelated Korean patients with OTC deficiency; L9X, R26P, R26X, T44I, R92X, G100R, R141Q, G195R, M205T, H214Y, D249G, R277W, F281S, 853 del C, R320X, V323M and 10 bp del at nt. 796-805. These mutations occur at well conserved nucleotide sequences across species or CpG hot spot. The L9X and R26X lead to the disruption of leader sequences, required for directing mitochondrial localization of the OTC precursor. Their phenotypes are severe, and neonatal onset. The G100R, R277W and V323M mutations were uniquely identified in patients with late onset OTC deficiency. The other genotypes are associated with neonatal onset. Out of 20 patients with OTC deficiency, only 6 patients are alive; two were liver transplanted, and normal in growth and development at 2, 4 years after transplantation respectively. Citrullinemia is an autosomal recessive disease, caused by the mutations in the argininosuccinate synthetase(ASS) gene. We identified in 3 major mutations in 11 unrelated Korean patients with citrullinemia; G324S, $IVS6^{-2}$ A to G, and 67 bp ins at nt 1125-1126. Among these, the 67 base pair insertion mutation is novel. The allele frequency of each mutation is; G324S(45%), IVS6-2 A to G(32%), and 67 base pair insertion(14%). All patients are diagnosed at neonatal or infantile age. Interestingly, two patients presented with stroke like episode. Out of 11 patients, 5 patients died. Among 6 patients alive, one patient was successfully liver transplanted.

• Physical Therapy Rehabilitation Science
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• 제2권2호
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• pp.99-103
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• 2013

Objective: Clinical measures that quantify upper extremity function are needed for the accurate evaluation of patients and to plan an intervention strategy. The purpose of this study was to examine the relationship between the Unified Parkinson's Disease Rating Scale (UPDRS)-Motor Exam and upper extremity performance as a quantifying clinical tool of upper extremity function in persons with Parkinson's disease. Design: Cross-sectional study. Methods: Thirty-two idiopathic Parkinson's Disease persons participated in this study. To investigate the relationship between the UPDRS-motor exam, Box and Block test (BBT), and Action Research Arm Test (ARAT) by two physical therapists. The examination took up to 1 hour, and the participants were invited to rest between each clinical measure in order to minimize the effects of fatigue. Clinical measures were assessed while the subjects were in the "on" phase of their medication cycle, generally 1-3 hour after taking their anti-Parkinson's medications. Results: In more affected side, the UPDRS-motor exam was significantly negative correlated with the BBT (p<0.05) but it was not significantly correlated with the ARAT. In less affected side, only positively correlation was significantly shown between BBT and ARAT (p<0.05). On the other hand, between BBT and ARAT were not significantly correlated with the UPDRS-motor exam. Conclusions: The UPDRS-motor exam is effective tool which was significantly correlated with manual dexterity in more affected upper extremity. But The UPDRS-motor exam is not effective tool in less affected upper extremity.

• 한국균학회소식:학술대회논문집
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• 한국균학회 2015년도 춘계학술대회 및 임시총회
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• pp.23-23
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• 2015

Plasmodiophora brassicae is a major disease threat for Brassica oil and vegetable crop production worldwide. The causal agent is a Plasmodiophorid, which are obligate biotrophic plant-pathogenic protists in the Rhizarian kingdom. Although the Plasmodiophorids include other important agricultural pathogens such as Polymyxa betae, Spongospora subterranea, their biology remains poorly understood due to their intracellular biotrophic life style. I will present the assembled and annotated genome of P. brassicae, with insights into developmental stage-specific. We provide the first genomic data for pathogenic Rhizaria. The exploitation of the life stage specific transcripts will shed light in the understanding of the life cycle at a molecular basis, which will in the long run help to understand and control club root disease. Our data also fill an important gap for the understanding of the eukaryotic tree of life, since this is only the third genome of the eukaryotic kingdom of Rhizaria.

• 대한유전성대사질환학회지
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• 제16권2호
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• pp.62-69
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• 2016

Newborn screening of some urea cycle disorders has little benefits because of early severe symptoms before the result, low sensitivity (especially hypocitrullinemia) and poor prognosis. But in case of citrullinemia, citrin deficiency and argininosuccinic aciduria diagnosed as elevated citrulline, newborn screening is helpful for early diagnosis and treatment before the symptom. Distinction between the clinical forms of these diseases is based on clinical findings and biochemical results, however, they may not be clearcut. Treatment is different from each other, so exact diagnosis is essential. Here, the diagnostic algorithm for elevated citrulline after tandem mass screening has been proposed. Minimizing total process time from sampling to report of the results is important in Korea for diagnosis and treatment of these disorders.

• 수면정신생리
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• 제7권2호
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• pp.79-83
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• 2000

Sleep disturbances are frequently associated with neurological disorders. Sleep disorders interfere with rehabilitation of patients with neurological disorders such as stroke and may increase the severity of their symptoms and recurrence rate of stroke. The treatment of sleep apnea syndrome is particularly important in managing patients with cerebral infarction of whom 50-80% have moderate to severe sleep apnea. Sleep apnea produces not only poor quality sleep but also excessive daytime sleepiness, fatigue and lack of energy. Sleep problems frequently found in patients with dementia are sleep-wake cycle abnormality, fragmentation of sleep, nocturnal insomnia, decreased slow wave sleep and REM sleep, and sleep disordered breathing. The management of sleep disturbances is very important for controlling symptoms such as nocturnal wandering and sundowning syndrome in patients with dementia. Parkinson's disease and epilepsy are other neurological disorders that may have sleep disturbances.

• International Journal of Vascular Biomedical Engineering
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• 제1권1호
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• pp.3-12
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• 2003

Ultrasonic pulsed Doppler velocimetry has become a standard international method of classifying carotid disease. Because the measured angle adjusted velocity increases as the Doppler angle increases, examinations should be performed at a convenient standard Doppler examination angle. An angle of 60 degrees is achievable throughout most examinations. Multiple Doppler viewing angles allow the acquisition of velocity vectors during the cardiac cycle, revealing the complex velocity patterns. Ultrasonic velocimetry (whether Doppler or time domain) is based on changes in the phase of the ultrasound echo. Other examinations can be done based on the echo phase. Slow motions of organs such as the brain can be used to monitor changes in edema. Measurements of tissue strain due to the pulsatile filling of the arterioles. This plethysmographic imaging method can display differences in tissue perfusion because of different tissue types and changes in autonomic activity.

• Journal of Chest Surgery
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• 제25권10호
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• pp.1082-1086
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• 1992

Adenosquamous carcinoma of the lung is a rare disease entity and its clinical characteristics, treatment, and prognosis are poorly described. Stage I disease are amenable to operation as in bronchogenic carcinoma of non-small cell type, but stage III adenosquamous carcinoma shows highly aggressive behavior with rapid progression. We have experienced a case of stage III adenosquamous carcinoma of the lung in a 38-year-old male with a large mass in the right upper lobe with multiple metastasis in the mediastinal lymph nodes. Interestingly, all of the metastatic lymph nodes proved to be adenous component histologically. After right pneumonectomy and extensive lymph node dissection, the patient had received one cycle of chemotherapy. However, clinical signs of distant metastasis to bone and brain were discovered within 5 months postoperatively.

• Journal of applied mathematics & informatics
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• 제38권5_6호
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• pp.375-406
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• 2020

The anti-predator factor due to fear of predator in eco- epidemiological models has a great importance and cannot be evaded. The present paper consists of a modified Lesli-Gower predator-prey model with contagious disease in the predator population only and also consider the fear effect in the prey population. Boundedness and positivity have been studied to ensure the eco-epidemiological model is well-behaved. The existence and stability conditions of all possible equilibria of the model have been studied thoroughly. Considering the fear constant as bifurcating parameter, the conditions for the existence of limit cycle under which the system admits a Hopf bifurcation are investigated. The detailed study for direction of Hopf bifurcation have been derived with the use of both the normal form and the central manifold theory. We observe that the increasing fear constant, not only reduce the prey density, but also stabilize the system from unstable to stable focus by excluding the existence of periodic solutions.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.64-66
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• 2018

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.

• 대한한방부인과학회지
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• 제15권4호
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• pp.163-173
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• 2002

Oligomenorrhalgia is one of common clinical disease in the gynecologic problems, means menstual cycle of 35 days-6 months. In oriental medicine is similar to means of 'Delayed menstruation', 'Postdated menstruation', 'Retarded menstruation' etc. Because in many case Oligomenorrhea became worse to amenorrhea, is realation to outbreak of infertility or systemic dysphoria and need detail examination and lasting inspection. We treated one case of Oligomenorrhalgia. This study classified the disease of the patient the deficiency of kindey, seven emotions and blood feaver. After the treatment, Oligomenorrhalgia is cured. The result get effective by korean medicine.