• Journal of Cerebrovascular and Endovascular Neurosurgery
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• v.25 no.4
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• pp.411-419
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• 2023

Objective: Optochiasmatic cavernoma is an extremely rare cerebral lesion. They account for approximately 1% of all cavernomas of the central nervous system. Reports on this pathology are limited. Abrupt visual deterioration is a common symptom of the disease. Treatment strategy and visual outcomes after different treatment approaches remain a subject for discussion. Methods: Patients operated in a period 2005-2021 were analyzed in this study. All patients preoperatively underwent computed tomography (CT) scan, CT-angiography, and magnetic resonance imaging (MRI). Visual function of the patients was assessed pre-op, post-op and at the follow-up. Duration of visual dysfunction was noted as well. Surgical details were also extracted from medical notes. All patients were followed up, and control MRI was performed one month after operation. We assessed surgical series of optochiasmatic cavernomas published for last 10 years. Further comparative analysis with our data was performed. Results: Five patients were included into this study. There were four men and one woman. Mean age comprised 33.8 years (range 20-48 years). Most patients were admitted to our hospital due to visual disturbances (80%). Visual function improved in four patients. Visual function was unchanged in one patient, lacking visual distur-bancies pre-op. Complication developed in one patient. Conclusions: Optochiasmatic cavernomas are encountered extremely rare. Despite the use of contemporary diagnostic options, differential diagnosis remains challenging. Full diagnostic work-up is mandatory. After the diagnosis is made, surgical treatment should be considered first. Total microsurgical or endoscopic transsphenoidal removal of the optochiasmatic cavernoma is a relatively safe and effective treatment method facilitating improvement of visual function.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.199-204
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• 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.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.209-216
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• 1999

Purpose : Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). The hypothesis that the defect underlying NDI might be a dysfunctional renal AVPR2 has recently been proven by the identification of mutations in the AVPR2 gene in NDT patients. To investigate the association of mutations in th AVPR2 gene with NDI, we analyzed the AVPR2 gene located on the X chromosome. Methods : We have analyzed the AVPR2 gene in a kindred with X-linked NDI. The proband and proband's mother were analyzed by polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP) and DNA sequencing of the AVPR2 gene. We also have used restriction enzyme analysis of genomic PCR product to evaluate the AVPR2 gene. Results : C to T transition at codon 202, predictive of an exchange of tryptophan 202 by cysteine(R202C) in the third extracellular domain was identified. This mutation causes a loss of Hae III site within the gene. Conclusion : We found a R202C missense mutation in the AVPR2 gene causing X-linked NDI, and now direct mutational analysis is available for carrier screening and early diagnosis.

• Journal of Chest Surgery
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• v.35 no.12
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• pp.862-870
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• 2002

The surgical results of the patients with single ventricle(SV) associated with total anomalous pulmonary venous connection(TAPVC) has been reported with high mortality and morbidity due to their morphologic and hemodynamic complexity. A retrospective review was undertaken to report the outcome of the first-stage palliative surgery in our institution and to determine the factors influencing early death. Material and Method: Between January 1987 and June 2002, 39 patients with SV and TAPVC underwent surgical intervention with or without TAPVC repair. Age at operation ranged from 1day to 10.7months (median age, 2.4month), and 29 patients were male. Preoperative diagnosis included 20 right-dominant SV, 15 SV with endocardial cushion defect, 3 left-dominant SV, and 1 tricuspid atresia. The pulmonary venous connection was supracardiac in 22, cardiac in 5, infracardiac in 11, and mixed in 1, Obstructed TAPVC was present in 11. First-stage palliative surgery was performed in 37. Repair of TAPVC, either alone or in association with other procedures, was performed during the initial operation in 31. Univariate and multivariate analyses were performed to analyze the risk factors influencing the operative death. Result: A mean follow-up period of survivors was 34.3 $\pm$ 43.0(0.53 ~ 146.2)months. Overall early operative mortality was 43.6%(17/39). The causes were low cardiac output in 8, failure of weaning from cardiopulmonary bypass in 3, sepsis in 2, pulmonary hypertensive crisis in 1, pulmonary edema in 1, pneumonia in 1, and postoperative arrhythmia in 1. Risk factors influencing early death in univariate analysis were body weight, surgical intervention in neonate, obstructive TAPVC, preoperative conditions including metabolic acidosis, and need for inotropic support, TAPVC repair in initial operation, operative time, and cardiopulmonary bypass(CPB) time. In multivariable analysis, body weight, age at initial operation, surgical intervention in neonate, preoperative conditions including metabolic acidosis, need for inotropic support and CPB time were the risk factors. Conclusion: In this study, we demonstrated that the patients with SV and TAPVC had high perioperative mortality. Preoperative poor condition, young age, the length of operative and CPB time, the presence of obstructive TAPVC had been proven to be the risk factors. This fact suggests that the avoidance of unnecessarily additional procedures may improve the surgical outcomes of the first-stage palliative surgery. However further observation and collection of the data is mandatory to determine the ideal surgical strategy.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.31 no.3
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• pp.199-218
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• 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.

• Tuberculosis and Respiratory Diseases
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• v.48 no.2
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• pp.155-165
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• 2000

Background: The phagolysosomal function of alveolar macrophage against M. tuberculosis infection is influenced by Nramp1, which is encoded by the NRAMP1 gene. There are several genetic polymorphisms in NRAMP1, and these polymorphisms affect the innate host resistance through the defect in production and function of Nramp1. To investigate this relationship, the NRAMP1 genetic polymorphism in patients with primary tuberculous pleurisy was determined. Methods: Fifty-six primary tuberculous pleurisy patient, who were diagnosed by pleural biopsy, were designated to the pleurisy group and 45 healthy adults were designated to the healthy control group. Three genetic polymorphisms of NRAMP1, such as a single point mutation in intron 4(469+14G/C, INT4), a nonconservative single-base substitution at codon 543 that changes aspartic acid to asparagine(D543N) and a TGTG deletion in the 3' untranslated region(1729+55delI4, 3'UTR), were determined. Polymerase chain reaction(PCR) and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) were used. Results: The frequencies of mutant genotypes of INT4 and 3'UTR were significantly high in pleurisy group(p=0.001, p=0.023). But the frequencies of D543N were not significantly different between the two groups(p=0.079). The odds ratios, which are a comparison with wild genotype for determining mutant genotypes, were 8. 022(95% confidence interval=2.422-26.572) for INT4 and 5.733(95% confidence interval = 1.137~28.916) for 3'UTR ; these were statistically significant But the ratio for D543N was not significant In the combined analysis of the INT4 and 3'UTR polymorphisms, the odds ratios were 6.000(95% confidence interval = 1.461~24.640) for GC/++ genotype and 14.000(95% confidence interval=1.610~121.754) for GC/+del when compared with GG/++ homozygotes ; these were statistically significant. Conclusion: Among the NRAMP1 genetic polymorphisms, a single point mutation in intron 4(469+14G/C, INT4) and a TGTG deletion in the 3' untranslated region(1729+55del4, 3'UTR) were closely related to the primary tuberculous pleurisy.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.32 no.4
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• pp.293-298
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• 2010

Purpose: The objective of the present study was to determine the capability of electrospun silk fibroin as a biomaterial template for bone formation when mixed with nano-hydoxyapatite in vivo. Materials and Methods: Ten New Zealand white rabbits were used for this study and bilateral round shaped defects were formed in the parietal bone (diameter: 8.0 mm). The electrospun silk fibroin was coated by nano-hydroxyapatite and grafted into the right parietal bone (experimental group). The left side (control group) did not receive a graft. The animals were sacrificed at 6 weeks and 12 weeks, humanly. The microcomputerized tomogram (${\mu}CT$) was taken for each specimen. Subsequently, they were undergone decalcification and stained for the histological analysis. Results: The average value of all measured variables was higher in the experimental group than in the control at 6 weeks after the operation. BMC in the experimental group at 6 weeks after operation was $48.94{\pm}19.25$ and that in the control was $26.17{\pm}16.40$ (P = 0.027). BMD in the experimental group at 6 weeks after operation was $324.59{\pm}165.24$ and that in the control was $173.03{\pm}120.30$ (P = 0.044). TMC in the experimental group at 6 weeks after operation was $19.50{\pm}6.00$ and that in the control was $10.52{\pm}6.20$ (P = 0.011). TMD in the experimental group at 6 weeks after operation was $508.88{\pm}297.57$ and that in the control was $273.54{\pm}175.91$ (P = 0.06). Gross image of both groups showed higher calcification area at 12 weeks than them in 6 weeks. The average value of ${\mu}CT$ analysis was higher at 12 weeks than that in 6 weeks in both groups. BMC in the experimental group at 12 weeks after operation was $51.21{\pm}8.81$ and that in the control was $33.47{\pm}11.13$ (P = 0.010). BMD in the experimental group at 12 weeks after operation was $323.39{\pm}21.54$ and that in the control was $197.75{\pm}76.23$ (P = 0.012). TMC in the experimental group at 12 weeks after operation was $21.44{\pm}5.30$ and that in the control was $13.31{\pm}4.17$ (P = 0.008). TMD in the experimental group at 12 weeks after operation was $524.47{\pm}19.37$ and that in the control was $299.60{\pm}136.20$ (P = 0.016). Conclusion: The rabbit calvarial defect could be successfully repaired by electrospun silk nano-fiber combined with nano-hydroxyapatite.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.31 no.6
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• pp.469-477
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• 2009

Purpose: This study was performed to evaluate the effect of various graft materials used with a titanium cap on the ability of new bone formation in the rabbit calvarium. Materials and Methods: A total of 32 sites of artificial bony defects were prepared on the calvaria of sixteen rabbits by using a trephine bur 8 mm in diameter. Each rabbit had two defect sites. 0.2 mm deep grooves were formed on the calvaria of sixteen rabbits by using a trephine bur 8 mm in diameter for the fixation of a titanium cap. The treatments were performed respectively as follows: without any graft for the control group (n=8), autogenous iliac bone graft for experimental group 1 (n=8), alloplastic bone graft ($SynthoGraft^{(R)}$, USA) for experimental group 2 (n=8), and xenogenic bone graft ($NuOss^{(R)}$, USA) for experimental group 3 (n=8). After the treatments, a titanium cap (8 mm in diameter, 4 mm high, and 0.2 mm thick) was fixed into the groove. At the third and sixth postoperative weeks, rabbits in each group were sacrificed for histological analysis. Results: 1. In gross examination, the surgical sites showed no signs of inflammation or wound dehiscence, and semicircular-shaped bone remodeling was shown both in the experimental and control groups. 2. In histological analysis, the control group at the third week showed bone remodeling along the inner surface of the cap and at the contact region of the calvarium without any specific infiltration of inflammation tissue. Also, there was no soft tissue infiltration. Bone remodeling was observed around the grafted bone and along the inner surface of the titanium cap in experimental group 1, 2, and 3. 3. Histologically, all groups at the sixth week showed the increased area of bone remodeling and maturation compared to those at the third week. In experimental group 2, the grafted bone was partially absorbed by multi nucleated giant cells and new bone was formed by osteoblasts. In group 3, however, resorption of the grafted bone was not observed. 4. Autogenous bone at the third and sixth week showed the most powerful ability of new bone formation. The size of newly formed bone was in decreasing order by autogenous, alloplastic, and heterogenous bone graft. There was no statistically significant difference among autogenous, alloplastic, and heterogenous bones(p>0.05). Summary: This result suggests that autogenous bone is the best choice for new bone formation, but when autogenous bone graft is in limited availability, alloplastic and xenogenic bone graft also can be an alternative bone graft material to use with a suitably guided membrane.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• The Korean Journal of Nuclear Medicine
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• v.38 no.3
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• pp.218-224
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• 2004

We compared rest perfusion PET with redistribution perfusion SPECT to investigate the concordant rate between PET and SPECT images and analyze the discordant pattern. Materials and Methods: Rest N-13 ammonia and F-18 FDG PET were performed on 18 patients with old myocardial infarction and left ventricular dysfunction whose dipyridamole - 4hr redistribution TI-201 SPECT showed one or more severe fixed defects. Regional perfusion and metabolism were evaluated visually and quantitatively with 5-segment myocardial model. Results: There were high concordant rate in uptake pattern (80/90 segments, 88.9%) and high correlation coefficient on quantitative analysis (R=0.81, p<0.001) between redistribution TI-201 SPECT and N-13 ammonia PET images. Nine of 18 patients had SPECT-PET concordant pattern (Group I). Ten segments (9 in inferior wall, 1 in apex) from the remaining 9 patients showed SPECT-PET discordant pattern with abnormal TI-201 defect and near normal N-13 ammonia uptake (Group II). The diastolic and systolic left ventricular dimensions were significantly increased in Group II compared to those of Group I. When attenuation uncorrected N-13 ammonia PET images were reconstructed in Group II, it resulted in PET images with severe inferior wall defects nearly identical to those seen in redistribution TI-201 SPECT images. Conclusion: Redistribution TI-201 SPECT images showed high concordant rate and correlation with rest N-13 ammonia PET images. Most of discordant segments had fixed thallium defects in inferior wall with nearly normal N-13 ammonia uptake, which may result from severe left ventricular dilatation and attenuation by the left hemidiaphragm and cardiac blood pool.