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Objective: This study aimed to analyse surgical outcomes of paediatric patients with congenital cholesteatoma according to age., Method: This was a retrospective study reviewing the records of 186 children (136 boys and 50 girls) from August 1993 to January 2016. Patients were divided into three age groups (equal to or less than 3 years, over 3 and less than 7 years, and 7 to 15 years)., Results: There were significant differences in chief complaints, location of cholesteatoma in the middle ear, computed tomography findings, operation methods, ossicular erosion and type of cholesteatoma sac among the three groups. In addition, older age, open type cholesteatoma, ossicular erosion and mastoid invasion of cholesteatoma increased the recurrence rate after surgery. However, despite higher pre-operative air-bone gap in older children, hearing can be improved enough after proper surgery with ossicular reconstruction., Conclusion: Delayed detection of paediatric cholesteatoma can lead to extensive disease and the need for an aggressive operation, which can result in worse hearing outcomes and an increased recurrence risk.

Purpose: Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of Growtropin ® -II (recombinant human GH) in Korean patients with ISS., Methods: This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin ® -II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) between 4 and 12 years of age were included in the study. All patients were naive to GH treatment., Results: Annual height velocity was significantly higher in the treatment group (10.68 ± 1.95 cm/year) than the control group (5.72 ± 1.72, p < 0.001). Increases in height and weight standard deviation scores (SDSs) at 26 weeks were 0.63 ± 0.16 and 0.64 ± 0.46, respectively, for the treatment group, and 0.06 ± 0.15 and 0.06 ± 0.28, respectively, for the control group (p < 0.001). Serum insulin-like growth factor (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) increased significantly in the treatment group at week 26 compared to baseline. However, the SDS for body mass index (BMI) at 26 weeks did not change significantly in either group. Growtropin ® -II was well tolerated and safe over 1 year of treatment., Conclusions: One-year GH treatment for prepubertal children with ISS demonstrated increased annualized velocity, height and weight SDSs, and IGF-1 and IGFBP-3 levels, with a favorable safety profile. Further evaluations are needed to determine the optimal dose, final adult height, and long-term effects of ISS treatment.

Heparin-binding epidermal growth factor (EGF)-like growth factor (HBEGF) is a ligand for the EGF receptor (EGFR), one of the most commonly amplified receptor tyrosine kinases (RTKs) in glioblastoma (GBM). While HBEGF has been found to be expressed in a subset of malignant gliomas, its sufficiency for glioma initiation has not been evaluated. In this study, we demonstrate that HBEGF can initiate GBM in mice in the context of Ink4a/Arf and Pten loss, and that these tumors are similar to the classical GBM subtype observed in patients. Isogenic astrocytes from these mice showed activation not only of Egfr but also the RTK Axl in response to HBEGF stimulation. Deletion of either Egfr or Axl decreased the tumorigenic properties of HBEGF-transformed cells; however, only EGFR was able to rescue the phenotype in cells lacking both RTKs indicating that Egfr is required for activation of Axl in this context. Silencing of HBEGF in vivo resulted in tumor regression and significantly increased survival, suggesting that HBEGF may be a clinically relevant target.

Quercus glauca Thunb. (syn. Cyclobalanopsis glauca (Thunb.) Oerst.), known as ring-cupped oak or Japanese blue oak, is a dominant tree species commonly found in evergreen forests in East Asia (2). In May 2012, hundreds of Q. glauca were found heavily affected by a powdery mildew in several locations of Jeju Islands, Korea. Symptoms on overwintered leaves appeared as circular to irregular blackish violet to dark brown felt-like growths with numerous chasmothecia on abaxial leaf surfaces. New infections on current-year leaves started in early summer and were characterized by typical white patches with abundant sporulation on abaxial leaf surfaces. In early autumn, with formation of special aerial hyphae and without further sporulation, the patches turned light brown to brown. Formation of chasmothecia was noticed from late autumn. The adaxial leaf surface was free of powdery mildew growths and exhibited yellowing and discoloration. Voucher specimens were deposited in the Korea University Herbarium (KUS). Special aerial hyphae were falcate to curved, aseptate, at first hyaline, later deep brown to purplish brown, thick-walled, and 80 to 140 × 6 to 15 μm. Conidiophores were 175 to 245 × 10 to 12 μm, and produced 2 to 4 immature conidia in chains with a sinuate outline. Foot-cells of conidiophores were cylindrical and 80 to 120 μm long. Conidia were lemon- to barrel-shaped, 26 to 35 × 17 to 24 μm with a length/width ratio of 1.2 to 1.6, and devoid of fibrosin bodies. Primary conidia were apically conical and basally subtruncate. Germ tubes produced in the lateral to perihilar position of conidia were long and slender (3 μm wide). Chasmothecia were scattered or gregarious, partly embedded with special aerial hyphae, dark brown, spherical, 55 to 70 μm in diameter, and contained a single ascus. Chasmothecial peridia consisted of two layers. Exoperidia (outer layer) were composed of dark brown, polygonal cells 10 to 20 μm wide. Endoperidia (inner layer) consisted of hyaline, polygonal cells 10 to 15 μm wide. Appendages were basally attached, mycelioid, rare or few, and pale brown to rusty brown. Asci were short stalked, 55 to 72 × 35 to 46 μm, had a terminal oculus 10 to 20 μm wide, and contained 8 ascospores. Ascospores were oblong-elliptical, 22 to 27 × 10 to 12.5 μm, subhyaline, and contained 1 or 2 oil drops. The specific measurements and characteristics (especially falcate aerial hyphae) were consistent with those of Cystotheca wrightii Berk. & M.A. Curtis (1). Fungal DNA was extracted by the Chelex method. The internal transcribed spacer (ITS) region of rDNA of KUS-F27309 was amplified with primers ITS5/P3 and sequenced directly (4). The resulting 589-bp sequence was deposited in GenBank (Accession No. KF735066). A BLAST search in GenBank showed that the Korean isolate had 100% homology with C. wrightii on Q. glauca from Japan (AB000932). Powdery mildews of Q. glauca associated with C. wrightii have been known in Japan, Taiwan, and China (1,3), but not in Korea. Finding of C. wrightii on Q. glauca could pose a potential threat to other evergreen oak species in southern part of Korea. References: (1) U. Braun and R. T. A. Cook. Taxonomic Manual of the Erysiphales (Powdery Mildews), CBS Biodiversity Series No. 11, CBS, Utrecht, Netherlands, 2012. (2) X. Y. Chen et al. Acta Bot. Sin. 39:149, 1997. (3) D. F. Farr and A. Y. Rossman. Fungal Databases. Syst. Mycol. Microbiol. Lab., Online publication, ARS, USDA, retrieved 21 October, 2013. (4) S. Takamatsu et al. Mycol. Res. 113:117, 2009.

Hibiscus mutabilis L., known as cotton rose, is a deciduous shrub native to China. Horticultural varieties of the species are widely planted throughout the world (4). In September 2012, typical powdery mildew symptoms on the cotton rose were observed in a public garden of Jeju City, Korea. Powdery mildew colonies were circular to irregular white patches on both sides of the leaves and also on young stems and sepals. As the disease progressed, white mycelial growth covered the entire shoot portion, causing leaf distortion. In the middle of November, numerous chasmothecia were formed on the lesions. Voucher specimens (n = 4) were deposited in the Korea University Herbarium (KUS). Hyphal appressoria were only swollen part of hyphae or occasionally nipple-shaped. Conidiophores were 140 to 275 × 10 to 11.5 μm and produced 2 to 8 immature conidia in chains with a crenate outline. Foot-cells of conidiophores were straight, 30 to 65 μm long, and cylindric. Conidia were hyaline, ellipsoid-ovoid, and measured 27 to 42 × 17.5 to 21 μm with a length/width ratio of 1.5 to 2.4, and had distinct fibrosin bodies. Chasmothecia were amphigenous, cauligenous, 85 to 110 μm in diameter, and contained one ascus each. Peridium cells of chasmothecia were irregularly polygonal, large, and 15 to 38 μm wide. Appendages were mycelioid, 1- to 6-septate, brown at the base, and becoming paler. Asci were sessile, oval to broadly fusiform, with terminal oculus of 15 to 20 μm wide. Ascospores numbered eight per ascus were ellipsoidal, 19 to 25 × 14 to 16 μm. The morphological characteristics were consistent with previous records of P. xanthii (Castagne) U. Braun & Shishkoff (1). To confirm the identification, the complete internal transcribed spacer (ITS) region of rDNA from isolate KUS-F27134 was amplified with the primers ITS5 and P3 and sequenced (3). The resulting sequence of 477 bp was deposited in GenBank (Accession No. KC460208). The Korean isolate showed >99% similarity with dozens of sequences of P. xanthii ex cucurbitaceous hosts (e.g., JQ912061, JQ409565, HM070403, etc.) as well as Podosphaera sp. ex H. mutabilis from Japan (AB040308). Pathogenicity was confirmed through inoculation tests by gently pressing diseased leaves onto young leaves of three asymptomatic, potted 2-year-old seedlings. Three non-inoculated seedlings were used as controls. Plants were maintained in a greenhouse at 24 to 30°C. Inoculated leaves developed symptoms after 7 days, whereas the control plants remained symptomless. The fungus present on the inoculated leaves was morphologically identical to that observed on the original diseased leaves, fulfilling Koch's postulates. Powdery mildew infections of H. mutabilis associated with P. xanthii (including P. fuliginea in broad sense) have been known in China, Japan, and Taiwan (1,2). To our knowledge, this is the first report of powdery mildew caused by P. xanthii on H. mutabilis in Korea. Since Jeju, the southmost island of Korea, is the only habitat of cotton rose in Korea and is the northmost natural habitat in Asia, powdery mildew is a new threat to the health of wild populations of cotton rose. References: (1) U. Braun and R. T. A. Cook. Taxonomic Manual of the Erysiphales (Powdery Mildews), CBS Biodiversity Series No.11. CBS, Utrecht, 2012. (2) D. F. Farr and A. Y. Rossman. Fungal Databases. Syst. Mycol. Microbiol. Lab., Online publication, ARS, USDA, retrieved January 18, 2013. (3) S. Takamatsu et al. Mycol. Res. 113:117, 2009. (4) D. A. Wise. J. Hered. 64:285, 1973.

Melia azedarach L., called chinaberry, is native to Southeast Asia and Australia. The trees are commonly planted as ornamentals in the southern part of Korea. In October 2010, a leaf spot disease was observed on trees for the first time in Wando, Korea. Further surveys conducted from 2010 to 2012 showed that the disease occurs on trees in Jeju, Seogwipo, and Tongyeong cities as well as Wando county with nearly 100% incidence. Leaf spots were circular to semicircular, later becoming angular, small, pale brown in the center with a dark brown margin, and later becoming milky white. Leaf spots sometimes coalesced to blight the entire leaf and were capable of rapidly defoliating whole trees in late September. Fruiting was amphigenous, but mostly hypogenous. Stromata were substomatal, globular, dark brown, and 25 to 70 μm in diameter. Conidiophores were densely fasciculate, pale olivaceous to pale brown, substraight to mildly curved, not geniculate, 10 to 30 μm long, 2.5 to 4.5 μm wide, and aseptate or uniseptate. Conidia were pale olivaceous, generally darker than conidiophores, cylindric to obclavate, substraight in shorter ones, curved to mildly sinuous in longer ones, obconically truncate at the base, obtuse at the apex, 2- to 14-septate, 16 to 120 × 3 to 5 μm, guttulate, and had inconspicuous hila. Morphological characteristics of the fungus were consistent with the previous descriptions of Pseudocercospora subsessilis (Syd. & P. Syd.) Deighton (2). Voucher specimens (n = 6) were deposited in the Korea University Herbarium (KUS). An isolate from KUS-F25395 was deposited in the Korean Agricultural Culture Collection (KACC45688). The complete internal transcribed spacer (ITS) region of rDNA was amplified with the primers ITS1/ITS4 (3) and sequenced. The resulting sequence of 517 bp was deposited in GenBank (Accession No. JX993904). A BLAST search in GenBank revealed that the sequence shows >99% similarity (1 bp substitution) with a sequence of P. subsessilis ex M. azedarach from Cuba (GU269815). For pathogenicity tests, hyphal suspensions were prepared by grinding 3-week-old colonies grown on potato dextrose agar with distilled water using a mortar and pestle. Five 3-year-old chinaberry trees were inoculated with hyphal suspensions using a fine haired paint brush. Three healthy trees of the same age, serving as controls, were sprayed with sterile water. The plants were covered with plastic bags to maintain 100% relative humidity for 24 h and then transferred to a greenhouse. Typical symptoms of necrotic spots that appeared on the inoculated leaves 10 days after inoculation were identical to the ones observed in the field. P. subsessilis was reisolated from symptomatic leaf tissues, confirming Koch's postulates. No symptoms were observed on control plants. The disease has been reported in several Asian countries as well as in Cuba and the United States (1). To our knowledge, this is the first report of leaf spot on chinaberry caused by P. subsessilis in Korea. The observed high incidence and severity suggest that this disease can be a limiting factor in utilizing this tree species as ornamentals in public areas. References: (1) D. F. Farr and A. Y. Rossman. Fungal Databases. Syst. Mycol. Microbiol. Lab., Online publication, ARS, USDA, Retrieved October 22, 2012. (2) Y. L. Guo and W. H. Hsieh. The genus Pseudocercospora in China. International Academic Publishers, Beijing, China, 1995. (3) T. J. White et al. PCR Protocols. Academic Press, San Diego, CA, 1990.

Farfugium japonicum (L.) Kitam., known as Japanese silver leaf, is native to Japan, Korea, and Taiwan. It is grown as an ornamental plant for garden plantings and containers not only in East Asia but more recently also in Europe and North America. Since 2003, powdery mildew infections of F. japonicum 'Gigantea' have been consistently found in the southern part of Korea, including the districts of Jeju, Seogwipo, Busan, Wando, and Ulleungdo. Specimens have been deposited in the Korea University Herbarium (KUS). Signs of powdery mildew first appeared as circular to irregular white patches on both sides of the leaves. The infections were usually severe on young leaves and caused malformation and browning. Appressoria on the mycelium were nipple-shaped or nearly absent. Conidiophores, measuring 160 to 280 × 10 to 12.5 μm, were simple and produced 2 to 12 immature conidia in chains, followed by 2 to 3 cells. Foot-cells in conidiophores were relatively short, 50 to 95 μm long, and constricted at the base. Conidia were hyaline, ellipsoid to ovate, 32 to 48 × 17.5 to 25 μm (length/width ratio = 1.4 to 2.3), had distinct fibrosin bodies, and produced germ tubes on the lateral position. No chasmothecia were observed. The morphology and dimentions of reproductive structures were compatible with those of Podosphaera xanthii (Castagne) U. Braun & Shishkoff (1). To confirm the identity of the causal fungus, the complete ITS region of rDNA from isolate KUS-F26469 was amplified with primers ITS5 and P3 (4) and directly sequenced. The resulting sequence of 475 bp was deposited in GenBank (Accession No. KC155426). A GenBank BLAST search of this sequence revealed 100% identity (475/475 bp) with those of many P. fusca isolates on plants in the Aster family plants including Calendula officinalis, Euryops pectinatus, Syneilesis palmata, and F. japonicum from Japan (e.g., AB040346). The P. fusca isolates listed above are now placed in P. xanthii (1). Pathogenicity was confirmed through inoculation by gently pressing diseased leaves onto leaves of three healthy potted plants of the same cultivar. Three non-inoculated plants served as controls. Plants were maintained in a greenhouse at 25 ± 2°C. Inoculated plants developed typical signs and symptoms of powdery mildew after 8 days, whereas the control plants remained symptomless. The fungus present on the inoculated leaves was morphologically identical to that originally observed on diseased plants. Powdery mildew infections of F. japonicum caused by P. fusca (syn. P. fuliginea) have been reported previously in both Japan and Korea (2). In Korea, it was listed simply as a host fungus of Ampelomyces quisqualis, which is hyperparasitic to powdery midlews, without any data on its identity (3). To our knowledge, this is the first confirmed report of powdery mildew caused by P. xanthii on F. japonicum in Korea. References: (1) U. Braun and R. T. A. Cook. Taxonomic Manual of the Erysiphales (Powdery Mildews), CBS Biodiversity Series No.11. CBS, Utrecht, 2012. (2) D. F. Farr and A. Y. Rossman. Fungal Databases. Syst. Mycol. Microbiol. Lab., Online publication, ARS, USDA, Retrieved November 14, 2012. (3) M. J. Park et al. Fungal Biol. 114:235, 2010. (4) S. Takamatsu et al. Mycol. Res. 113:117, 2009.

Background: Growth retardation is a common problem for children with chronic kidney disease. Although renal transplantation (RTx) resolves endocrine metabolic and uremic disturbances, growth continues to be suboptimal. This study aims to describe changes in height from diagnosis to final adult height (FAH) in Korean renal allograft recipients and determine factors associated with posttransplantation growth., Methods: We retrospectively reviewed 63 renal allograft recipients who underwent RTx at <15 years of age with regular follow-up for >3 years afterwards. Pre- and post-RTx growth was analyzed by height Z scores (Ht&#95;Z) at RTx, 2 and 5 years follow-up, and at FAH., Results: Ht&#95;Z decreased from diagnosis to dialysis by -0.8 (P = .009) and from dialysis to RTx by -0.46 (P < .001). The mean baseline Ht&#95;Z at RTx was -1.62 ± 1.36. The change in Ht&#95;Z at 2 and 5 years after transplantation was 0.68 ± 0.88 and 0.48 ± 0.86, respectively. Both variables were negatively correlated with baseline age at RTx. Mean FAH was -1.22 ± 1.11 and was positively correlated with baseline height at RTx. Height at start of dialysis and dialysis duration were significant determinants of baseline height at RTx (P < .001)., Conclusions: Although there is significant posttransplant catch-up growth among younger recipients and among those with greater baseline height deficit, catch-up growth is not sustained and greater FAH is attained in those who are taller at RTx. Achieving greater height before dialysis and decreasing dialysis duration leads to maximal height at RTx as well as greater FAH., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Summary: We measured bone mineral densities in 28 intracranial germ cell tumor long-term survivors. There was the high prevalence of osteoporosis and osteopenia, 25.0% and 42.9%, respectively, and three additional risk factors, male sex, a low lean mass, and adult growth hormone replacement, were identified., Introduction: Intracranial germ cell tumor long-term survivors (iGCTLS) have many risk factors for osteoporosis, including irradiation from cancer therapy and multiple hormone deficiencies. However, no study of bone mineral density (BMD) has been conducted in iGCTLS because these tumors are rare. The aims of this study were to evaluate the prevalence of osteoporosis and to identify risk factors associated with reduced bone mass in iGCTLS., Methods: We evaluated BMD and body composition of 28 iGCTLS (10.9 ± 5.2 years after cancer treatment; 13 males) using dual-energy X-ray absorptiometry. To determine risk factors, we analyzed the medical history, including the nature of the tumor, treatment modality, endocrine status, hormone replacement therapy, lifestyle, and biochemical parameters., Results: Twenty-five percent of iGCTLS were diagnosed with osteoporosis and 42.9% with osteopenia. Most males (92.3%) had low BMD. Lean mass (LM) was positively correlated with BMD in all regions of interest, and the starting age of adult growth hormone (GH) replacement was negatively correlated with the BMD Z-score at the femur neck. In logistic regression analysis, male sex and low LM were related to low BMD., Conclusions: The iGCTLS had a high prevalence of low BMD. We found that male sex, low LM, and delayed start of adult GH replacement were risk factors for osteoporosis. Therefore, the BMD of all iGCTLS should be evaluated, and if it is low, proper management should be started early.

Aim: The aim of this study was to investigate the relationship between serum levels of the glycoxylation product N(epsilon)-(carboxymethyl)lysine (CML) and development of chronic diabetic complications and degree of diabetic control in children and adolescents with type 1 diabetes., Methods: The serum levels of CML were measured in 87 patients with uncomplicated type 1 diabetes mellitus (12.7 +/- 4.6 years of age) and in seven patients with background retinopathy, microalbuminuria or neuropathy (18.2 +/- 5.2 years of age) and compared with those in 64 normal control subjects (12.6 +/- 5.2 years of age). The mean durations of diabetes in uncomplicated and complicated patients were 5.0 +/- 3.4 years (0.1-14 years), and 8.6 +/- 5.0 years (3.1-18 years), respectively. The serum levels of CML were measured by enzyme-linked immunosorbent assay using a monoclonal anti-CML antibody (6D12)., Results: The serum levels of CML were significantly higher in the patient group than those in the control group; 0.85 +/- 0.37 (0.37-1.93) U/ml vs. 0.56 +/- 0.23 (0.15-1.05) U/ml (p < 0.001) and significantly higher in the patient group with chronic complications than those in patient group without chronic complications; 1.06 +/- 0.39 (0.72-1.78) U/ml vs. 0.83 +/- 0.36 (0.37-1.93) U/ml (p < 0.05). Weak, but statistically significant relationship between CML levels and haemoglobin A(1c) levels at the measurement of CML was observed (r = 0.29, p < 0.05)., Conclusions: Our data are suggesting that higher serum levels of CML are involved in the development of chronic diabetic complications, and serum levels of CML reflect the degree of diabetic control for a long duration in type 1 diabetic children and adolescents.

Epidural steroid injections are commonly used to treat lumbosacral radicular and discogenic pain. When used in this manner, these agents can cause minor, transient systemic side effects and rarely result in any serious complications. Because adverse reactions are uncommon and transient, epidural injections are considered a safe therapeutic intervention. We describe the first case of persistent hiccups as a consequence of a thoracic epidural steroid injection in a patient with thoracic discogenic pain.

A symptomatic popliteal cyst after total knee arthroplasty (TKA) is rare, occurring most frequently as a result of intra-articular knee pathology. We present a case of a large dissecting popliteal cyst 7 years after TKA with symptoms of severe calf pain and functional disability. The symptomatic cyst was excised completely in a first-stage operation, and the severely worn TKA was corrected by a second-stage surgical procedure. The patient in this report was pain free and had satisfactory range of knee motion 5 years after the index revision TKA, without recurrence of effusion or popliteal cyst formation.

Shoulder pain is a common musculoskeletal ailment. The process of determining the etiology of shoulder pain can be difficult. The differential diagnoses include: both intracapsular and extracapsular lesions; and neurologic, vascular, postural, and visceral causes. We present an unusual case of shoulder pain accompanied by loss of shoulder range of motion (ROM), initially thought to be caused by an intrinsic shoulder disorder. However, it ultimately was determined that a cervical radicular disorder caused both the impaired ROM and the patient's shoulder pain.

Objective: The purpose of this study was to determine the method of treatment and outcome of women with cervical adenocarcinoma in situ (AIS)., Methods: Following institutional review board approval, all women diagnosed with cervical AIS from 1987 to 1999 were identified. Data were retrospectively collected by record review and correspondence with medical providers., Results: Of 132 women treated with cone biopsy for AIS, 95 (72%) were managed conservatively after cold knife cone or loop electrical excisional procedure alone; 37 (28%) eventually underwent hysterectomy. The median age of diagnosis was 29 years (range, 17-47) in the conservative management group and 40 years (range, 25-72) in the hysterectomy group (P < 0.0001). Seventy-four percent were nulliparous in the conservative group compared with 27% in the hysterectomy group (P < 0.0001). Of the 95 conservatively managed patients, 92 obtained negative margins; three were followed despite positive or unevaluable margins. During a median follow-up of 30 months, 9 women required evaluation for follow-up abnormalities after cone biopsy with negative margins. None had pathologic evidence of recurrent AIS. Twenty-three infants were delivered. Hysterectomy was generally performed for undesired fertility or persistently positive cone margins. One woman required hysterectomy for recurrent AIS. Thirteen (62%) of twenty-one hysterectomy specimens had residual AIS following cone biopsy with positive or unevaluable margins; 1 (6%) of 16 had residual AIS following cone biopsy with negative margins (P < 0.0001). No patient developed invasive adenocarcinoma., Conclusions: Younger women with cervical AIS may be effectively treated with cone biopsy alone if negative margins can be achieved., (Copyright 2000 Academic Press.)

Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia. All of the three patients had the splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly324Ser mutation and the other patient had a 67-bp insertion mutation in exon 15. The IVS6-2A>G mutation was reported to be found frequently in Japanese patients with citrullinemia, but Caucasian patients showed the extreme mutational heterogeneity. Although a limited number of Korean patients were studied, the IVS6-2A>G mutation appears to be one of the most frequent mutant alleles in Korean patients with citrullinemia. The Gly324Ser mutation identified in two patients also suggests the possible high frequency of this mutation in Korean patients as well.

Mismatches in the treatment of gastric cancer to date in Japan are as follows: 1. Difference in the definitive pathological diagnosis even among well-known, experienced pathologists. The case of a patient who was successfully treated by the authors is reported in this paper. 2. The insufficient number of medical oncologists for gastric cancer. 3. The administration of adjuvant chemotherapy after surgery without obvious evidence that it is needed. 4. Inadequate preventive measures, i.e. refrainment from smoking and eradication of Helicobacter pylori. 5. The application of standard surgery, which is designed basically to treat advanced gastric cancer with serosal and nodal involvement, in cases of early gastric cancer. These mismatches have been corrected recently by the adoption of modified surgery and an endoscopic approach to the early gastric cancer. These modifications could be attained through our pioneering effort to find a balance between the two contradictory approaches of radical treatment and preservation of organic function, which are often irreconcilable in cancer treatment in general, after the accumulation of sufficient data on early gastric cancer in a Japanese nationwide study.

Objective: Bone grafting plays an important role in reconstructing infected tibial nonunions. The effects of antibiotic-impregnated bone grafting in infection elimination and bone incorporation was reported in this retrospective study., Methods: Ninety-six patients treated for infected tibial nonunions were evaluated. These patients were managed with local antibiotic bead therapy and staged antibiotic-impregnated autogenous cancellous bone graft or pure autogenous cancellous bone graft. Patients were randomized to antibiotic-impregnated bone grafting or bone grafting-only groups on the basis of whether the admission date was odd or even. Patients were divided into two groups (antibiotic-impregnated bone grafting group and pure cancellous bone grafting group), according to the procedure used in preparing the bone grafts. The antibiotic-impregnated bone grafting group included 37 men and 9 women whose average age was 36 years (range, 17 to 72 years). The average follow-up period was 4.8 years. By using the Cierny-Mader staging classification of chronic osteomyelitis, 32 of 46 patients (70%) were stage 4A, and 14 of 36 patients (30%) were stage 4B. The pure cancellous bone grafting group included 39 men and 11 women whose average age was 37 years (range, 18 to 72 years). The average follow-up period was 4.5 years (range, 4 to 6 years). Thirty-nine of 50 patients (78%) were stage 4A, and 11 of 50 patients (22%) were stage 4B. The bone defects in both groups ranged from 2 to 4 cm., Results: Wound healing and bony union were achieved in the antibiotic-impregnated bone grafting group. Only two patients had recurrent infections. The infection arrest rate was 95.6%. However, 9 of 50 patients in the pure cancellous bone grafting group had recurrent infections. The infection arrest rate was 82%. The antibiotic-impregnated bone grafting group had significantly superior results (95.6% vs. 82% chi2 test, p < 0.05) in infection elimination than the pure cancellous bone grafting group., Conclusion: After 4 to 6 years of follow-up, our results suggest that the use of impregnating antibiotics have no adverse effects on autogenic cancellous bone graft incorporation and could help to eliminate infection effectively.

Even a small intracranial germinoma (GE) frequently provokes pituitary hypofunction. We evaluated the relationships between preoperative hormonal status and hormonal outcome and between size of suprasellar mass and hormonal outcome in 22 children with intracranial pure GE to determine whether or not these can reflect the degree of hypothalamo-pituitary axis destruction. Preoperative hormonal status was graded from I to IV according to the serum prolactin level (s-PRL) and thyroid function (TF). The hormonal outcome was estimated by the type and the number of hormonal replacement medications taken on the basis of the triple load test and endocrinological examinations at the time of the last follow-up (median period: 43 months). Fifteen of the 22 patients had suprasellar lesions. All 13 patients who had diabetes insipidus (DI) at presentation needed desmopressin acetate (DDAVP) during the follow-up period. The correlation between increment of preoperative grade and the increment in the number of hormones to be replaced was statistically significant (P<0.05). This preoperative grading was a more reliable predictor than the size of suprasellar tumor. In conclusion, preoperative grading by s-PRL and TF test is useful for the prediction of posttreatment hormonal replacement in children with intracranial pure GE.

Between January of 1991 and December of 1993, 36 patients who had tibia fractures complicated by small infected tibia defects were treated at the authors' service. The group included 30 men and 6 women whose average age was 36.5 years (range, 18-72 years). The average follow-up period was 3.7 years. By using the Cierney-Mader staging classification of chronic osteomyelitis, 26 of 36 patients (72%) were stage 4A and 10 of 36 patients (28%) were stage 4B. Ten patients required muscle transfer. All patients were treated with a two-stage protocol. In the first stage, antibiotic-impregnated polymethylmethacrylate bead chains were used to obliterate the debrided osseous defect. In the second stage, the beads were removed, and the defects were reconstructed with antibiotic-impregnated autogenic cancellous bone graft. The time between the first and second stage was 2 to 8 weeks for patients without muscle transfer and 8 to 12 weeks for the patients with muscle transfer. The bone defects ranged from 2 to 4 cm. Wound healing and bony union were achieved in all patients. Only two patients had recurrent infections. The infection arrest rate was 94.4%. Minor pin tract infection of the external skeletal fixation was seen in two patients. Two patients developed skin rashes secondary to antibiotic therapy. Radiographs at an average follow-up of 3.7 years showed good consolidation and hypertrophy of grafted bones in all patients. After 3 to 5 years of follow-up, our results suggest that the use of impregnating antibiotics have no adverse effects on autogenic cancellous bone graft incorporation and may help to eliminate infection. This treatment protocol provided rapid recovery from osteomyelitis. The use of antibiotic-impregnated autogenic bone graft seems to be an effective and safe method for the management of small infected tibial defects.

Objective: Abnormal immune complex clearance is a feature of systemic lupus erythematosus (SLE). Polymorphisms of the Fc gamma receptor type IIa (Fc gammaRIIa) genes (the receptor binds IgG2 and IgG3) are important disease susceptibility factors in some populations. This study sought to determine the effects of these polymorphisms among Korean patients with SLE., Methods: Polymerase chain reaction of genomic DNA and allele-specific oligonucleotide hybridization were used to determine Fc gammaRIIa genotypes in Korean patients with SLE and healthy control subjects. Clinical manifestations were analyzed in each patient and correlated with the genotypes., Results: Among the 73 SLE patients, there was an abnormal distribution of Fc gammaRIIa alleles when compared with 64 controls: 11.0% of the SLE patients were homozygous for Fc gammaRIIa-H131 compared with 34.4% of the controls (odds ratio [OR] 0.20, 95% confidence interval [95% CI] 0.04-0.95, chi2 = 5.7, P = 0.01699). The allelic frequency of Fc gammaRIIa-H131 was significantly lower in the SLE patients than in the controls (49.3% versus 63.3%; P = 0.02019), and it was also significantly lower in lupus patients with nephritis compared with the normal population (OR 0.53, 95% CI 0.29-0.95, chi2 = 5.15, P = 0.02330), but was not significantly lower in lupus patients without nephritis (P = 0.13663 versus controls). Clinically, the level of proteinuria was significantly higher in the lupus nephritis patients who had R/R131 than in those who had H/H131 or R/H131., Conclusion: An abnormal distribution of Fc gammaRIIa polymorphisms was associated with SLE in Korean patients. There was a significant decrease in the Fc gammaRIIa-H/H131 genotype and H131 allelic frequency in SLE patients, particularly in those with nephritis. This suggests that the H131 allele confers some protection from SLE in this population.

Mitochondrial tRNA(Leu)(UUR) gene mutation is one of the candidates in the pathogenesis of NIDDM. Especially the 3243 (A-->G) mutation is associated with the maternally-inherited diabetes and deafness. To evaluate the prevalence and characteristics of the 3243 point mutation in Koreans, we screened 433 Korean diabetic patients (220 men and 213 women). Genomic DNA was extracted from peripheral white blood cells and PCR was carried out with mitochondrial DNA primers (3130-3149, 3558-3539) encompassing the 3243 position. After digestion with Apa-1, five subjects showed polymorphism suggesting 3243 point mutation but when we directly sequenced the amplified DNA with an automatic sequencer, only 2 of the 5 patients were shown to have 3243 (A-->G) mutation and the other 3 subjects had 3426 (A-->G) mutation rather than 3243 mutation. Two diabetic patients with 3243 mutation were lean (BMI = 14.4, 17.0 kg/m2), had relatively lower fasting C-peptide concentrations (0.9 ng/ml each), and required insulin for management. In contrast, those with 3426 point mutation were not lean (BMI = 22.6-28.0 kg/m2), had relatively higher C-peptide levels (3.9-5.4 ng/ml), and could be managed with oral hypoglycemic agents. None of the 5 patients had deafness. In conclusion, the prevalence of 3243 point mutation in Korean diabetic patients was approximately 0.5% and we found a new mutation mimicking 3243 mutation by PCR-RFLP (restriction fragment length polymorphism) pattern. We suggest that sequencing of the PCR product or designing smaller PCR fragment size to enhance the specificity may help to identify the exact location of the point mutation.

Cysteine proteinase cDNA fragment from adult mammalian trematode, Paragonimus westermani was amplified by reverse transcription-polymerase chain reaction (RT-PCR) using degenerate oligonucleotide primers derived from conserved cysteine proteinase sequences. The 5' and the 3' regions of the cysteine proteinase gene were amplified using the PCR protocol for the rapid amplification of cDNA ends (RACE). It has an open reading frame of 804 bp. The deduced amino acid sequence consists of 268 amino acids. Sequence analysis and alignment showed significant sequence similarity to other eukaryotic cysteine proteinases and conservation of the cysteine, histidine, and asparagine residues that form the catalytic triad. The cysteine proteinase cDNA fragment was also subcloned in the expression vector pET and expressed as a C-terminal His-tag fusion protein in Escherichia coli.

The sequencing data for two mtDNA segments in control region I and II, 385 and 341 nucleotides long, respectively, for 306 unrelated Koreans are presented. In regions I and II, 139 and 58 polymorphic sites, respectively, were noted. These were distributed evenly along the control region, though the frequency of each site was variable. Nucleotide substitution rather than insertion/deletion was the prevalent pattern of variation. A total of 265 different mtDNA lineages in region I and 154 in region II were revealed. This result represents a substantial level of polymorphism in a defined population, and presents the possibility that mtDNA polymorphism could be used as an individual identification marker, especially when nuclear DNA is not available. In view of the complex pattern of variation, meticulous test-sequencing is thought to be more appropriate than RFLP analysis using restriction endonuclease or hybridization using an SSO probe. Racial differences with genealogical usage are also described.

Allele und genotype frequencies and the mutation rate of a short tandem repeat locus, the myelin basic protein (MBP) gene, were studied in 973 unrelated Koreans. The alleles were distributed in two discrete regions, one in a high molecular weight region (A) above 190 bp and the other in a low molecular weight region (B) below 150 bp. In a heterozygote, two alleles were found in each region. In region A 13 alleles were found and in region B 7 alleles. Most alleles showed a difference of 4 bp, but three interalleles were found in region A. Allele frequencies in Koreans differed from those reported for Germans and Portuguese. Sets of alleles, one from each region, were linked and transmitted to the offspring. A total of 36 haplotypes and 148 genotypes was identified. In 763 gametes of 550 families, whose parent-child relationship was confirmed using other serological and DNA systems, all alleles were transmitted in a Mendelian fashion, and no mutations were observed. The polymorphism information content (PIC) in Koreans was calculated as 0.833 for region A and 0.718 for region B. The power of discrimination (PD) was 0.959 for region A and 0.901 for region B. No significant deviation from Hardy-Weinberg equilibrium could be observed for this system.

Retrospective comparisons were conducted among 3 different configurations of tension band wiring techniques for adult olecranon fractures. The follow-up period was at least one year (average 26 months). All 3 configurations achieved high union rates with an average of 3.4 months to achieve union. However, the olecranon screw group or Kirschner wire group had a relatively higher satisfactory rate than the Rush pin group, even though there was no significance in statistics (P > 0.05). Complications were few, and implant migration occurred in the Rush pin or Kirschner wire group. The complications were not difficult to manage. The authors conclude that for olecranon fractures with a large fragment, olecranon screw or Kirschner wire can be chosen. For olecranon fractures with a small fragment, Kirschner wire should be utilized.

Retrospectively, we analyzed 7 cases of chronic osteomyelitis complicated with squamous cell carcinoma (SCC), who had been treated consecutively in Chang Gung Memorial Hospital from April 1983 to Jan. 1991. There were 6 males and one female, with the age between 43 and 80 years (average 57 years). The distribution of these lesions was 5 in the lower legs and 2 in the thighs; one had another hip lesion. The duration of discharging sinus presented before malignant change was from 4.5 years to 50 years (average 30 years). The pathological findings were all well-differentiated squamous cell carcinoma. Amputation was performed in 5 of them. Limb salvage procedure was selectively done in one case. Chemotherapy and regional irradiation without surgery was given in the remaining case. Follow up examination showed that the short term results were satisfactory in all cases. Six cases had at least one year of follow-up; the longest follow-up was 8 years.

A semiconductor laser with a linewidth of 7 Hz locking to a supercavity was achieved by using an optical-electrical double-feedback technique. The emitted power concentration within the stabilized field spectrum was 81%. The minimum value of the square root of the Allan variance for the frequency stability was 2.4 x 10(-14) at the integration time of 70 msec.