Cheong, Hee Jeong;Kim, Hye Rim;Lee, Seong Soo;Bae, Eun Joo;Park, Won Il;Lee, Hong Jin;Choi, Hui Chul
Clinical and Experimental Pediatrics
/
v.52
no.2
/
pp.199-204
/
2009
Purpose : Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids. Method : We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278 patients referred for complex febrile seizure. Results : Of 278 patients, 132 had no abnormal laboratory findings, and 146 patients had at least one of the following abnormal laboratory findings: acidosis (n=58), hyperammonemia (n=55), hypoglycemia (n=21), ketosis (n=12). Twenty-six (19.7 %) of the 132 patients with no abnormal findings and 104 (71.2%) of the 146 patients with statistically significant abnormalities showed abnormalities on the organic acid analysis (P<0.05). Mitochondrial respiratory chain disorders (n=23) were the most common diseases found in the normal routine laboratory group, followed by PDH deficiency (n=2) and ketolytic defect (n=1). In the abnormal routine laboratory group, mitochondrial respiratory chain disorder (n=29) was the most common disease, followed by ketolytic defects (n=27), PDH deficiency (n=9), glutaric aciduria type II (n=9), 3-methylglutaconic aciduria type III (n=6), biotinidase deficiency (n=5), propionic acidemia (n=4), methylmalonic acidemia (n=2), 3-hydroxyisobutyric aciduria (n=2), orotic aciduria (n=2), fatty acid oxidation disorders (n=2), 2-methylbranched chain acyl CoA dehydrogenase deficiency (n=2), 3-methylglutaconic aciduria type I (n=1), maple syrup urine disease (n=1), isovaleric acidemia (n=1), HMG-CoA lyase deficiency (n=1), L-2-hydroxyglutaric aciduria (n=1), and pyruvate carboxylase deficiency (n=1). Conclusion : These findings suggest that urine organic acid analysis should be performed in all patients with complex febrile seizure and other risk factors for early detection of inherited metabolic diseases.
The factors contributing to the formation of an important scientific concept in South Korea and its circulation in the society are the scientific knowledge that had been already formed, matured, and established in the U.S.A, Europe and Japan and has been introduced into Korea, and the institutions that have been formed during the recent modernization in South Korea. The concept of 'genetic information' cannot be an exception in this context. The concept of genetic information is the one that has been extended and intensified by the genomics and bioinformatics formed and matured through the Human Genome Projects from the former concept of inheritance or heredity within the framework of classical and molecular genetics. The purpose of this study was to find out 'how the production structure of genetic information in South Korea has been formed', under the perspective of the conceptual, epistemic, and institutional holisticity or integratedness in the concept and knowledge production structure idealized in Western advanced nations. The discourse of genetic engineering popular in the mid 1980's in South Korea has catalyzed the development of molecular biology. However, the institutional balance that had been established for the biochemistry departments in Natural Science College and Medical College was not formed between the genetic engineering and genetics departments in South Korea. Therefore, they were unable to achieve the more integrative and macro-level disciplinary impact on life sciences, largely due to institutional lack of the capable (human) genetics departments in some leading Korean colleges of Medicine. In genomics, the cutting-edge reprogramming and restructuring of the traditional genetics in the West, South Korea has not invested, even meagerly, in the infrastructure, fund, and research and development (R & D) for the Basic or First Phase of the research trajectory in the Human Genome Project. Without a minimal Basic Phase, the genomics research and development in Korea has been running more or less for the Advanced or Second Phase. Bioinformatics has started developing in Korea under a narrow perspective which regards it as a mere sub-discipline of information technology (IT). Having developed itself in parallel with genomics, bioinformatics contains its own unique logics and contents that can be both directly and indirectly connected to the information science and technology. As a result, bioinformatics reveals a defect in respect of being synergistically integrated into genetics and life sciences in Korea. Owing to the structural problem in the production, genetic information appears to be produced in a fragmented pattern in the Korean society since its fundamental base is weak and thin. A good example of the conceptual and institutional fragmentedness is that 'the genetics of individual identification' is not a normal integrated part of the Korean genetics, but a scientific practice exercised in the departments of legal medicine in a few Medical Colleges. And the environment contributing to the production structure of genetic information in South Korea today comprises 'sangmyung gonghak'(or life engineering) discourse and non-governmental organization movement.
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.
Lim Hong Gook;Kim Woong-Han;Hwang Seong Wook;Lee Cheul;Kim Chong Whan;Lee Chang-Ha
Journal of Chest Surgery
/
v.38
no.5
s.250
/
pp.335-348
/
2005
Background: This retrospective review examines the preoperative condition, postoperative course, mortality and cause of death for the patients who underwent modified Blalock-Taussig shunt for complex congenital heart defects in early infancy. Material and Method: Fifty eight patients underwent modified Blalock-Taussig shunts from January 2000 to November 2003. The mean age at operation was $23.1\pm16.2$ days ($5\~81\;days$), and the mean body weight was $3.4\pm0.7\;kg\;(2.1\~4.3\;kg)$. Indications for surgery were pulmonary atresia with ventricular septal defect in 12 cases, pulmonary atresia with intact ventricular septum in 17, single ventricle (SV) in 18, and hypoplastic left heart syndrome (HLHS) in 11. Total anomalous pulmonary venous return (TAPVR) was associated with SV in 4 cases. Result: There were 11 ($19.0\%$) early, and 5 ($10.6\%$) late deaths. Causes of early death included low cardiac output in 9, arrhythmia in 1, and multiorgan failure in 1. Late deaths resulted from pneumonia in 2, hypoxia in 1, and sepsis in 1. Risk factors influencing mortality were preoperative pulmonary hypertension, metabolic acidosis, use of cardiopulmonary bypass, HLHS and TAPVR. Twenty four patients ($41.4\%$) had hemodynamic instability during the 48 postoperative-hours. Six patients underwent shunt revision for occlusion, and 1 shunt division for pulmonary overflow. Conclusion: Modified Blalock-Taussig shunt for complex congenital heart defects in early infancy had satisfactory results except in high risk groups. Many patients had early postoperative hemodynamic instability, which means that continuous close observation and management are mandatory in this period. Aggressive management may appear warranted based on understanding of hemodynamic changes for high risk groups.
One hundred forty-four patients underwent operation for coarctation of the aorta at Seoul National University Children's Hospital between June 1986 and Decembsr 1995. Age ranged 0.1 to 191 months. Of these 78.5%(113) were infants. We classified the patients in terms of the anatomic location of coarctatiln and the associatCd anomalies(I[401= primary coarctation, 11(741=isthmic hypoplasia, lIIf30)=tubular hypoplasia involving transverse arch, Ar63 =with ventricular septal defect, B(28)=with other major cardiac defects). Subcalvian flap coarctoplasty(60), resection & anastomosis(44), extended aortoplasty(26), and onlay patch(14) were used as surgical methods. Overall operative mortality was 16.0(23/144)%. The hospital mortality was signific'antly higher in patheints with type 111, subtype B, younger age(under 3 months), extended aortoplasty(p(0.01). However, one-stage total repair in patients with subtype A or B were not found to be a predictor of hospital death. Restenosis had occured in 18 patients among 121 survivals(14. 9%). The mean follow-up period was 29.1 $\pm$28.8(0~129.2) months. Preoperative, immediate postoperative(within 3 months after operation) and postoperative(later than 6 months after operation) echocardiographic data on the dimensions of ascending aorta(AA), transverse arch(TA), an4 aortic isthmus(Al) were available in 77 patients(I=20, ll=42, 111= 15). Preoperative and postoperative aortic isthmus(All) and tra sverse arch indices(TAI), defined as TAIAA & AIIAA respectively, were compared. Immediate postoperative All in type 1, II and TAI in type 111 were significantly smaller in stenotic than non-stenotic group suggesting incomplete relieves of stenotic segment Younger age, subclavian coarctoplasty in patient under 3 months of age were round to be the risk factors for restenosis in this series. In conclusion, We found that aortic arch index and transverse arch index can be a useful tool to figure out the anatomic and clinical characteristics of the patients with aortic coarctation, and that anatomy, associated anomalies, age, and surgical methods may influence the surgical outcome of the coarctation repair.
Kim Il Han;Yoo Hyung Jun;Cho Young Kan;Kim Dae Yong
Radiation Oncology Journal
/
v.15
no.1
/
pp.11-18
/
1997
Purpose : To evaluate the efficacy of combined treatment of surgery and chemoradiotherapy for supratentorial primitive neuroectodermal tumors (SPNET) and obtain the Prognostic factors and complications Materials and Methods .The a9e of 18 patients ranged from 1 to 27 years (median=5 years). There were 12 males and 6 females The extents of surgery were gross total (n:9), subtotal (n:8), biopsy only (n: 1). Craniospinal radiotherapy was delivered to all the patients except 2 patients who were treated only with the whole brain and primary lesion. Radiation dose were 3120-5800cGy (median=5460) to primary mass, 1500-4200cGy (median=3600cGy) to the whole brain and 1320-3600cGy (median= 2400 cGy) to the spinal axis. Chemotherapy was done in 13 patients. Median follow-up period was 45 months ranged from 1 to 89 months. Results : Patterns of failure were as follows; local recurrence (1), multiple intracranial recurrence (2), spinal seeding (3), craniospinal seeding (2) and multiple bone metastasis (1). Two of two patients who did not received craniospinal radiotherapy failed at spinal area. All the relapsed cases died at 1 to 13 months after diagnosis of progression. The 2- and 5-rear overall survival rates were $61\%\;and\;49\%$, respectively The a9e, sex, tumor location did not influence the survival but aggressive resection with combined chemotherapy showed better outcome. Among 9 survivors, complications were detected as radiation necrosis (n=1), hypopituitarism (n=2), cognitive defect(n=1), memory deficit (n=1), growth retardation (n=1). Conclusion : To improve the results of treatment of SPNET, maximal surgical resection followed by radiation therapy and chemotherapy is necessary. The extended radiation field including craniospinal axis may reduce the recurrence in spinal axis.
Both SCC 12 and SCC 13 cell lines were derived from squamous cell carcinoma (SCC) of the skin (Wu and Rheinwald, 1981). In the present study, we compared the inherent invasive activity in their raft cultures where most in vivo characteristics of epidermis can be reproduced by cell culture method. The raft culture of SCC 12 cell line produced many invading colonies within the collagen lattice and basal-like cells in the middle of differentiating cell layers, but no invasive activity was observed in the SCC 13 raft culture. We investigated which factors are implicated in inherent invasive activity of SCC 12 cell line by examining basal levels of type I collagenase, EGF receptor, fibronectin, and its receptor in two cell lines. Among them, only type I collagenase was significantly higher in invasive SCC 12 cells than in non-invasive SCC 13 cells. Furthermore, we tried to investigate mechanisms underlying between SCC 12 cell's inherent invasive activity and its high basal level of type I collagenase. As one of them, discrepancy in TGF alpha mediated responses between two cell lines was observed. In SCC 13 cells, TGF alpha initially stimulated type I collagenase at 12 h after TGF alpha treatment and then its down regulation was followed from 24 h even though TGF alpha was continuously present in the medium. However in SCC 12 cells, TGF alpha continuously stimulated type I collegenase up to 48 h. We propose that defect in EGF receptor's down-regulation may be involved in lack of type I collagenase's down-regulation and its possible connection to invasive activity of SCC 12 cell line.
Journal of the Korean Association of Oral and Maxillofacial Surgeons
/
v.31
no.3
/
pp.199-218
/
2005
Purpose of Study: Peripheral nerve regeneration depends on neurotrophism of distal nerve stump, recovery potential of neuron, supporting cell like Schwann cell and neurotrophic factors such as BDNF. Peripheral nerve regeneration can be enhanced by the conduit which connects the both sides of transected nerve. The conduit maintains the effects of neurotrophism and BDNF produced by Schwann cells which can be made by gene therapy. In this study, we tried to enhance the peripheral nerve regeneration by using calcium phosphate coated porous conduit and BDNF-Adenovirus infected Schwann cells in sciatic nerve of rats. Materials and Methods: Microporous filter which permits the tissue fluid essential for nerve regeneration and does not permit infiltration of fibroblasts, was made into 2mm diameter and 17mm length conduit. Then it was coated with calcium phosphate to improve the Schwann cell adhesion and survival. The coated filter was evaluated by SEM examination and MTT assay. For effective allogenic Schwann cell culture, dorsal root ganglia of 1-day old rat were extracted and treated with enzyme and antimitotic Ara-C. Human BDNF cDNA was obtained from cDNA library and amplified using PCR. BDNF gene was inserted into adenovirus shuttle vector pAACCMVpARS in which E1 was deleted. We infected the BDNF-Ad into 293 human mammary kidney cell-line and obtained the virus plaque 2 days later. RT-PCR was performed to evaluate the secretion of BDNF in infected Schwann cells. To determine the most optimal m.o.i of BDNF-Ad, we infected the Schwann cells with LacZ adenovirus in 1, 20, 50, 75, 100, 250 m.o.i for 2 hours and stained with ${\beta}$-galactosidase. Rats(n=24) weighing around 300g were used. Total 14mm sciatic nerve defect was made and connected with calcium phosphate coated conduits. Schwann cells$(1{\times}10^6)$ or BDNF-Ad infected Schwann cells$(1{\times}10^6)$ were injected in conduit and only media(MEM) was injected in control group. Twelve weeks after surgery, degree of nerve regeneration was evaluated with gait analysis, electrophysiologic measurements and histomorphometric analysis. Results: 1. Microporous Millipore filter was effective conduit which permitted the adhesion of Schwann cells and inhibited the adhesion of fibroblast. We could enhance the Schwann cell adhesion and survival by coating Millipore filter with calcium phosphate. 2. Schwann cell culture technique using repeated treatment of Ara-C and GDNF was established. The mean number of Schwann cells obtained 1 and 2 weeks after the culture were $1.54{\pm}4.0{\times}10^6$ and $9.66{\pm}9.6{\times}10^6$. 3. The mRNA of BDNF in BDNF-Ad infected Schwann cells was detected using RT-PCR. In Schwann cell $0.69\;{\mu}g/{\mu}l$ of DNA was detected and in BDNF-Adenovirus transfected Schwann cell $0.795\;{\mu}g/{\mu}l$ of DNA was detected. The most effective infection concentration was determined by LacZ Adenovirus and 75 m.o.i was found the most optimal. Conclusion: BDNF-Ad transfected Schwann cells successfully regenerated the 14mm nerve gap which was connected with calcium phosphate coated Millipore filter. The BDNF-Ad group showed better results compared with Schwann cells only group and control group in aspect to sciatic function index, electrophysiologic measurements and histomorphometric analysis.
Puorpose: The purpose of this study was to evaluate the usefulness of $^{99m}Tc$ DMSA scintigraphy on the dignosis of a renal scar in children with urinary tract infections. Materials and Methods: Eighty three patients were included in this study, who were diagnosed as the urinary tract infection on the basis of symptom, urinalysis and urine culture. $^{99m}Tc$ DMSA scintigraphy and voiding cystoureterography were peformed within 7days before the treatment in all patients. We classified the scintigraphic findings as follow s : 1 ; a large hypoactive upper or lower pole. 2 ; a small hypoactive area. 3 ; single defect resulting in localized deformity of the outlines. 4 ; deformed outlines in a small or normal sized kidney. 5 ; multiple defects. 6 ; diffuse hypoactive kidney without regional impairment. Follow-up scintigraphy was done at least 6 months after the initial study. When the abnormality on the initial scintigraphy was not completely resolved on the follow-up scan, the lesion was defined as containing a scar. Results: One hundred and fifteen renal units of 166 units(69.3%) showed abnormal findings on the DMSA scintigraphy. 65 units(56.5%) was diagnosed as containing renal scars on follow-up scintigraphies. Incidences of renal scar among renal units showing pattern 3, 4 and 5 on the initial scan was 75%, 78% and 78%, respectively. Whereas many of renal units showing 1, 2 and 6 pattern were recovered(65%, 76%, 50%). Sensitivity, specificity and accuracy of pattern-based DMSA scintigraphic findings on the diagnosis of renal scar was 76.9%, 85.1% and 81.9%, respectively. VUR was significantly associated with the renal scar when the initial DMSA shows unrecoverable findings(pattern 3, 4, 5). Odds ratio of the renal scar in a kidney showing unrecoverable initial scintigraphic findings was 19.1. Odds ratio in a kidney with mild or moderate-to-severe VUR was 3.5 and 14.4 respectively. Conclusion: In the urinary tract infection, renal scar was significantly developed in a kidney showing unrecoverable findings on the initial DMSA scan and VUR on voiding cystoureterography.
Background: The fixed dose regimen with activated coagulation time(ACT) is the most commonly employed method for determining the required dosage of heparin and protamine during cardiopulmonary bypass(CPB). Material and Method: We performed a prospective study on a fixed dose regimen for analyzing adequate dosages of heparin and protamine, the incidence of heparin resistance and heparin-induced thrombocyt openia, factors affecting ACT during CPB, and changes of ACT during aprotinin usage. 300 units/kg of heparin were administered to patients, and ACTs were measured after 5 mins. ACTs were checked at 10 mins and 30 mins after the onset of CPB, and then at 30 min intervals thereafter. If the measured ACT was under 400 secs, we added 100 units/kg of heparin. The heparin was reversed with 1 mg of protamine for each 100 units administered. If the measured ACT was longer than 130 secs 30 mins after protamine administration or if there was definitive evidence of a coagulation defect, we administered a further 0.5 mg/kg of protamine. Result: We studied 80 patients(50 adults and 30 children) who underwent open heart surgery(OHS) at Seoul National University Hospital. Preoperative ACT was 114.3${\pm}$19.3 secs in adults, and 119.5${\pm}$18.2 secs in children. There were no differences in preoperative ACT due to age, body weight, body surface area, or sex. The preoperative ACT was not influenced by a positive past history of OHS. Ten adults(20%) and 3 pediatric patients(10%) needed additional doses of heparin to maintain the ACT above 400 secs. Additional protamine administration was needed in 9 adults(18%) and 10 children(33%). Heparin resistance was found in only two adults. Heparin-induced thrombocytopenia was detected in 2 adults and 1 child. During CPB, ACT was prolonged. 12 adult patients received a low dose of aprotinin and showed longer celite activated ACT compared to the control group.The kaolin activated ACT showed a lower tendency than the celite activated ACT in aprotinin users. Conclusion: In conclusion, fixed dose regimen of heparin and protamine can be used without significant problems, but the incidence of need of additional dosage remains unsatisfactory.
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