• Clinical and Experimental Reproductive Medicine
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• v.36 no.1
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• pp.55-61
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• 2009

Objective: To compare the clinical outcomes of ICSI with sperm retrieved from testicular tissue in patients with obstructive azoospermia (OA) or hypospermatogenesis (HS). Methods: From January 2003 through December 2006, 155 patients with OA (241 cycles) and 28 patients with HS (34 cycles) were included in this study. We compared clinical outcomes of ICSI with testicular sperm such as fertilization rate, implantation rate, clinical pregnancy rate and delivery rate. Data were statistically analyzed using t-test and ${\chi}^2$-test. Results: Testicular spermatozoa could not be retrieved in 1 out of the 21 cycles where fresh testicular sperm extraction in HS patients. Fertilization rate (FR) was significantly higher in OA than HS (75.6 % vs. 62.6%, p<0.001). Cleavage rate (CR) per fertilized zygote was also significantly higher in OA than that in HS (66.8% vs. 54.8% p<0.001). However, there were no significant differences in good embryo rate (GER), clinical pregnancy rate (CPR), implantation rate (IR) and delivery rate (DR). Conclusion: Our results show that testicular sperm of HS does not affect CPR, IR, and DR although it has shown reduced FR and CR.

• Clinical and Experimental Reproductive Medicine
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• v.34 no.3
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• pp.179-188
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• 2007

Objectives: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation genetic diagnosis (PGD). In this study, we describe methods optimized for PGD of TNRs related diseases such as Huntington's disease (HD), spinocerebellar ataxia 3 (SCA3) and fragile X syndrome (FXS). Methods: We performed the preclinical assays with heterozygous patient's lymphocytes by single cell PCR strategy. Fluorescent semi-nested PCR and fragment analysis using automatic genetic analyzer were applied for HD and SCA 3. Whole genome amplification with multiple displacement amplification (MDA) method and fluorescent PCR were carried out for FXS. Amplification and allele drop-out (ADO) rate were evaluated in each case. Results: The fluorescent semi-nested PCR of single lymphocyte showed 100.0% of amplification and 14.0% of ADO rate in HD, and 94.7% of amplification and 5.6% of ADO rate in SCA3, respectively. We could not detect the PCR product of CGG repeats in FXS using the fluorescent semi-nested PCR alone. After applying the MDA method in FXS, 84.2% of amplification and 31.3% of ADO rate were achieved. Conclusions: Fluorescent semi-nested PCR is a reliable method for PGD of HD and SCA3. The advanced MDA method overcomes the problem of amplification failure in CGG repeats of FXS case. Optimization of methods for single cell analysis could improve the sensitivity and reliability of PGD for complicated single gene disorders of TNRs.

• Journal of Yeungnam Medical Science
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• v.16 no.2
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• pp.237-243
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• 1999

We conducted this study to find the optimal correction factor(${\alpha}$) of Lassen's linearization algorithm which has been applied for correction of flow-limited uptake at a high flow range in $^{99m}Tc$ d,l-hexamethylpropy leneamine oxime(HMPAO) and $^{99m}Tc$ ethyl cysteinate dimer(ECD). Ten patients with chronic cerebral infarction were involved in this study. We obtained the corrected $^{99m}Tc$ HMPAO and $^{99m}Tc$-ECD brain SPECT(single photon emission computed tomography) using the algorithm with ${\alpha}$ values that varied from 0.1 to 10 and compared the results with regional cerebral blood flow determined by positron emission tomography (PET-rCBF). The multi-modal volume registration by maximization of mutual information was used for matching between PET-rCBF and SPECT images. The highest correlation coefficient between $^{99m}Tc$-HMPAO and $^{99m}Tc$-ECD brain uptake and PET-rCBF was revealed at ${\alpha}$ 1.4 and 2.1, respectively. We concluded that the ${\alpha}$ values of Lassen's linearization algorithm for $^{99m}Tc$-HMPAO and $^{99m}Tc$-ECD brain SPECT images were 1.4 and 2.1, respectively to indicate cerebral blood flow with comparison of PET-rCBF.

• Journal of Yeungnam Medical Science
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• v.16 no.2
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• pp.228-236
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• 1999

Background: Thyrotoxic periodic paralysis is an uncommon illness characterized by intermittent flaccid paralysis of skeletal muscle, usually accompanied by hypokalemia, in patient with hyperthyroidism. However, the pathophysiology of thyrotoxic periodic paralysis remains largely unexplained and controversial. This report describes the clinical and biochemical findings in 19 patients with thyrotoxic periodic paralysis who were examined at the Yeungnam University Medical Center(YUMC) during the past decade. Methods: The medical records of 997 YUMC patients, seen between 1986 and 1996, with diagnosis of hyperthyroidism were reviewed. Nineteen patients out of 997 hyperthyroidism patients were diagnosed, and examined by history, physical examination, serum electrolyte value, and thyroid function test during paralysis. On the basis of these results, comparisons were made on age, sex, precipitating factors, timing, affected limbs, prognosis, serum potassium and serum phosphate and thyroid hormone levels. Results: The prevalence of periodic paralysis in hyperthyroidism was 1.9 percent and the male to female prevalence ratio was 30:1 and in all patients, the development of perodic paralysis was correlated with hyperfunctional state of the thyroid gland. Eleven cases of periodic paralysis were associated with hypokalemia and their thyroid hormone levels were significantly more increased than those of the patients without hypokalemia. Interestingly, our study shows the recurrence of paralysis after treatment. Conclusion: Although the precise pathophysiology of the disease is as yet undefined and controversial, it occurs primarily in Asians with an overwhelming male preponderance and prevalence of 2 percent in hyperthyroidism. The interactive roles of thyroid hormone, Na-K pump, and genetically inherited defect in the cellular membrane potential of the skeletal muscle can be speculated. Further investigation will be needed to firmly establish the mechanism of thyrotoxic periodic paralysis.

• Korean Journal of Food Science and Technology
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• v.45 no.6
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• pp.682-692
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• 2013

We investigated out the effect of cultivation region on the physicochemical characteristics of starch in six sweetpotato cultivars. The following sweetpotato cultivars were analyzed: Daeyumi, Shingeonmi, Jinhongmi, Shinyulmi, Yulmi, and Yeonhwangmi. Samples were cultivated in Muan, Iksan, Nonsan, Boryeong and Hamyang. The soil texture was found to be sandy loam in Muan, Iksan, and Boryeong, sandy clay loam in Nonsan, and loam in Hamyang. The starch content of the sweetpotato was higher in Muan than in Hamyang. The amylose content was 22.3-30.9%, and the highest amylose content was found in samples from Iksan. Rapid viscosity analysis showed that the samples from Hamyang had the lowest values of pasting temperature, while samples of the Daeyumi cultivar had the highest values. Thermal analysis with a differential scanning calorimeter showed that the Muan samples had the highest values of onset temperature, maximum peak temperature, and completion temperature, and the samples from Hamyang had the lowest values. There was no difference between the cultivation regions or the cultivar in the X-ray pattern of the starch or its appearance in scanning electron micrographs. Therefore, the results of this study confirm that cultivation region and cultivar play an important role in determining the quality of sweetpotato and the physicochemical characteristics of sweetpotato starch.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

• Science of Emotion and Sensibility
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• v.17 no.1
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• pp.39-52
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• 2014

Use of vision and audition for video reality has made much advancement. However use of olfaction, which is effective in inducing emotion, has not yet been realized due to technical limitations and lack of basic research. In particular it is difficult to fabricate many odors required for each different video. One way to resolve this is to discover clusters of odors of similar smell and to use representative odor for each cluster. This research explored clusters of odors based on pairwise similarity ratings. 300 diverse odors were first collected and sorted them into 11 categories. We selected 152 odors based on their frequency, preference, and concreteness. Participants rated similarity on 1,018 pairs of odors from selected odors and the results were analyzed using multi-dimensional scaling (MDS). Based on the idea that low odor concreteness would support valid use of representative odor, the MDS results are presented from low to high smell concreteness. First, flowers, plants, fruits, and vegetables was classified under the easy categories to use representative odor due to their low smell concreteness (Figure 1). Second, chemicals, personal cares, physiological odors, and ordinary places was classified under the careful categories of using it due to their intermediate concreteness (Figure 2). Finally, food ingredients, beverages, and foods was classified under the difficult categories to use it because of their high concreteness (Figure 3). The results of this research will contribute to reduction of cost and time in odor production and provision of realistic media service to customers at reasonable price.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.178-187
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• 2002

Purpose : The detection of hydronephrosis(HN) with antenatal ultrasonography was first reported in the 1970s. Prenatal HN is diagnosed with an incidence of 1:100 to 1:500 on antenatal screening. Recently, the purpose of antenatal screening has changed from simple detection to selection for specific diagnosis-based management. this study is to evaluate the usefulness of antenatal sonography for HN and to investigate the differential causes of HN and their clinical outcomes. Patients and methods : 11,783 live neonates with prenatal ultrasonographic examination at Ajou University School of Medicine, from Sep. 1994 to Aug. 2001 were analyzed. Results and conclusion : Hydronephrosis (>10 mm) was detected in 119 (1.0%) cases antenatally and among these, 91 were proved to have HN postnatally Males were three times more affected than females. Additional imaging studies revealed that ureteropelvic junction obstruction was the most common postnatal diagnosis (47%), followed by multicystic dysplastic kidney, vesicoureteral junction obstruction and vesicoureteral reflux. During 20 months' follow-up(3 to 72 months), 58(48%) renal units showed spontaneous resolution and surgical interventions were necessary in 10 (7.4%) of postnatally confirmed hydronephrotic renal units.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.65-73
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• 2007

Purpose : Voiding cystourethrography(VCUG) is a commonly performed diagnostic procedure in children with urinary tract infections. Recently, with the widespread use of prenatal ultrasonography, VCUG is performed as part of the postnatal radiological evaluation of asymptomatic infants with prenatally detected hydronephrosis. The procedure is relatively simple but it involves discomfort and some complications. We studied post procedural symptoms and complications in children who underwent VCUG. Methods : This study reviewed 259 patients who underwent VCUG in our hospital between October 2005 and September 2006. We did a chart review and a telephone interview with the patients' parents about symptoms and complications associated with VCUG. Results : Among 269 children, 217 patients(80.7%) were under 2 years of age and 5 patients (1.9%) were over 8 years of age. Their mean age was $13.1{\pm}22.9$ months. After VCUG, dysuria was found in 49 patients presented with dysuria, and irritability in 36 patients with irritability. Other complications were hematuria, fever, frequency, bladder rupture and urinary tract infection. Mean symptoms duration was $1.4{\pm}0.7$ days. There was no significant relationship between prophylactic antibiotics use and complication rate associated with VCUG. Conclusion : Our study demonstrated that 32.7% of patients showed complications including bladder rupture and urinary tract infection after VCUG. We also found that prophylactic antibiotics use did not prevent urinary tract infection nor decrease the rate of complications associated with VCUG. Therefore, we suggest that the procedure must be done carefully and aseptically, and we should closely observe the children who undergo VCUG for development of possible complications.