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Background Carbon dioxide (CO2 ) embolism is a serious, although rare, complication of remote access thyroidectomy using CO2 insufflation. Recently, we encountered a case of CO2 embolism during transoral thyroidectomy, and present it here with a review of the literature. Methods and results A 59-year-old female patient with papillary thyroid carcinoma underwent transoral robotic thyroidectomy with CO2 insufflation. During skin flap elevation, the anterior jugular vein was lacerated. Simultaneously, an electrocardiogram (ECG) showed bradycardia with premature atrial complexes, followed by asystole. After 2 cycles of cardiopulmonary resuscitation with an injection of 1-mg epinephrine, spontaneous circulation returned, and sinus tachycardia with ST segment elevation was noted in ECGs. The patient's vital signs returned to normal within 30 minutes, and normal sinus rhythm was observed. She was discharged on postoperative day 7, without neurologic and cardiac deficit. Conclusion The possibility of CO2 embolism during transoral thyroidectomy with CO2 insufflation should not be overlooked.

Rheumatoid arthritis (RA) is a chronic inflammatory disease caused by both genetic and environmental factors. Smoking has been implicated as one of the most important extrinsic risk factors for its development and severity. Recent developments have shed light on the pathophysiology of RA in smokers, including oxidative stress, inflammation, autoantibody formation and epigenetic changes. The association of smoking and the development of RA have been demonstrated through epidemiologic studies, as well as through in vivo and animal models of RA. With increased use of biological agents in addition to standard disease-modifying antirheumatic drugs (DMARDs), there has been interest in how smoking affects drug response in RA treatment. Recent evidence suggests the response and drug survival in people treated with anti-tumour necrosis factor (anti-TNF) therapy is poorer in heavy smokers, and possible immunological mechanisms for this effect are presented in the current paper.

Purpose: Adult Korean patients on chronic dialysis have a 9-year survival rate of 50%, with cardiovascular problems being the most significant cause of death. The 2011 annual report of the North American Pediatric Renal Trials and Collaborative Studies group reported 3-year survival rates of 93.4% and relatively poorer survival in younger patients. Methods: In this study, we have reviewed data from Korean Pediatric Chronic Kidney Disease Registry from 2002 to 2010 to assess survival rates and causes of death in Korean children on chronic dialysis. Results: The overall estimated patient survival rates were 98.4%, 94.4%, and 92.1% at 1, 3, and 5 years, respectively. No significant difference was observed in survival rates between patients on peritoneal dialysis and those on hemodialysis. Patients for whom dialysis was initiated before 2 years of age (n=40) had significantly lower survival rates than those for whom dialysis was initiated at 6–11 years of age (n=140). In all, 26 patients had died; the mortality rate was 19.9 per 1,000 patient years. The most common causes of death were infections and comorbidities such as malignancy and central nervous system (CNS) or liver diseases. Conclusion: The outcomes observed in this study were better than those observed in adults and comparable to those observed in pediatric studies in other countries. To improve the outcomes of children on chronic dialysis, it is necessary to prevent dialysis-related complications such as infection, congestive heart failure, or CNS hemorrhage and best control treatable comorbidities.

Objective The purpose of this study was to evaluate the effectiveness of scheduled ramosetron injections for controlling postoperative nausea and vomiting (PONV) after single-port access total laparoscopic hysterectomy (SPA-TLH). Methods Ninety patients who underwent SPA-TLH at the Korean National Health Insurance Service Ilsan Hospital between June 2013 and July 2014 were enrolled in this prospective, randomized, double-blinded, placebo-controlled study. The patients were divided into 2 groups as follows: the ramosetron group (0.3 mg intravenously [IV]; n=45) and the placebo group (normal saline IV; n=45). Both groups received their respective injections 12 and 24 hours post surgery. The incidence and severity of PONV (numerical rating scale, 0–10), and the use of rescue antiemetics post surgery were evaluated. Results Demographic and perioperative statistically significant differences were not observed between the 2 groups. The incidence of PONV in the ramosetron and placebo groups was 46.7% and 51.1%, respectively (P=0.51). We found significant differences in the severity of PONV between the 24- to 48-hour postoperative periods in both groups (ramosetron group, P=0.04 and placebo group, P=0.03). The use of rescue antiemetics was significantly lower in the ramosetron group than in the placebo group (P=0.02). Conclusion After general anesthesia, scheduled injections of ramosetron 12 and 24 hours after SPA-TLH reduced the severity of PONV and the use of rescue antiemetics. Administration of ramosetron can be considered not only immediately after SPA-TLH but also during the first 24-hour recovery period. Trial Registration ClinicalTrials.gov Identifier: NCT 02011659

Renal coloboma syndrome (RCS) is characterized by renal hypoplasia and optic disc coloboma. RCS is an autosomaldominant inherited disorder caused by PAX2 gene mutations. We report a case of RCS caused by PAX2 gene mutation in a15-year-old man.

Henoch-Schönlein purpura (HSP) is a leukocytoclastic vasculitis classically characterized by palpable purpura, arthritis, abdominal pain and renal disease. In this article, we summarize our current understanding of the pathogenesis of HSP and the implications for improving its diagnosis. Although the pathogenesis of HSP is not fully understood yet, exciting new information has emerged in recent years, leading to a better understanding of its pathogenesis. Here, we discuss genetic predisposition, immunoglobulins with a particular emphasis on IgA1, activated complements, cytokines and chemokines, abnormal coagulation and autoantibodies in the underlying pathogenic mechanisms. Finally, diagnostic criteria for HSP developed by institutions such as the American College of Rheumatology and the European League against Rheumatism/Paediatric Rheumatology European Society were proposed to improve early detection and diagnosis.

Congenital diaphragmatic hernia (CDH) is a rare and severe disorder with a high mortality rate among infants. Unilateral renal agenesis (URA) is a relatively common congenital urinary malformation. Here, we present the case of a newborn infant with left CDH associated with ipsilateral renal agenesis. The male patient was born weighing 3.850 g through normal spontaneous vaginal delivery at 38 weeks and 6 days of gestational age at a maternity hospital. He was transferred to our neonatal intensive care unit due to respiratory distress with tachypnea, grunting and cyanosis after birth. A chest radiography indicated parts of the bowel in the thoracic cavity, consistent with CDH. Renal ultrasonography indicated no kidney structure on the left side and a 5.6 cm right kidney with normal echogenicity. Repair of the diaphragmatic hernia was performed three days after birth. Most of the colon, small bowel, stomach and spleen were located in the left pleural cavity, but the left kidney was not seen. Subsequent dimercaptosuccinic acid scintigraphy indicated non-visualized functional cortical uptake in the left kidney on day 13 after birth. Thus, we report the successful treatment of a patient with CDH accompanied by URA.

OBJECTIVE: Alcoholic neuropathy is characterized by allodynia (a discomfort evoked by normally innocuous stimuli), hyperalgesia (an exaggerated pain in response to painful stimuli) and spontaneous burning pain. The aim of the present study is to investigate the effect of rolipram, a phosphodiesterase 4 inhibitor, against alcohol-induced neuropathy in rats. METHODS: Allodynia was induced by administering 35% v/v ethanol (10 g/kg; oral gavage) to Spraue-Dawley rats for 8 weeks. Rolipram and saline (vehicle) were administered intraperitoneally. Mechanical allodynia was measured by using von Frey filaments. Somatosensory evoked potential (SEP) was proposed as complementary measure to assess the integrity of nerve pathway. RESULTS: The ethanol-induced mechanical allodynia began to manifest from 3 week, and then peaked within 1 week. Beginning from 3 week, latency significantly started to increased in control group. In rolipram treated rats, the shorter latency was sustained until 8 weeks (p

Aim: Toll-like receptor 4 (TLR-4) is the major receptor used for recognition of specific gram negative bacteria by the host immune system. The role of TLR-4 has been revealed in preterm parturition. This study aims to demonstrate the immunohistochemical expression of TLR-4 with regard to histological layers and anatomical regions of the human fetal membranes. Material and Methods: Fetal membranes were obtained from the uterine fundus and low segment. Immunohistochemical staining for TLR-4 and hematoxylin and eosin stain were performed. Results: The chorion expressed significantly higher levels of TLR-4 than the amnion (P = 0.001). There was no difference in the expression of TLR-4 between the uterine fundus and the uterine low segment (P = 0.942). There was no significant difference in TLR-4 expression according to the presence of histological chorioamnionitis (P = 0.444). TLR-4 expression decreased significantly with the progression of gestation (P = 0.002). Conclusions: The level of expression of TLR-4 did not differ according to anatomic location, but did differ according to the histological layer of the human fetal membranes and gestational age. These results suggest that TLR-4 may be involved in preterm parturition.

Background The anti-CD20 monoclonal antibody rituximab (RTX) has been proposed as a rescue therapy for difficult-to-treat nephrotic syndrome (NS). We conducted a clinical trial to evaluate the efficacy and safety of RTX in children with difficult-to-treat NS dependent on or resistant to steroids and calcineurin inhibitors (CNIs). Methods A multicenter open-label trial was performed at 8 major pediatric nephrology centers in Korea. The investigation consisted of a randomized controlled trial for steroid- and CNI-dependent NS (DDNS; randomization into the RTX group and the control group, at a ratio of 2:1) and a single-arm study of steroid and CNI-resistant NS (DRNS). DDNS patients in the RTX group and DRNS patients received a single dose of intravenous RTX (375 mg/m of body surface area) for B-cell depletion. A second RTX dose was administered at week 2 if the first dose failed to achieve depletion of CD19(+) cells. The primary endpoint was rate of maintaining remission at 6 months after treatment for DDNS and rate of remission achievement for DRNS. Results Sixty-one children with DDNS were enrolled while in remission and randomized to the control group (21 patients) or the RTX group (40 patients). At 6 months after treatment, the remission rates were 74.3% in the RTX group and 31.3% in the control group (P = .003). The mean duration of remission maintenance was significantly higher in the RTX group than in the control group (9.0 vs 2.9 months, P = .004). Of the 23 patients with DRNS enrolled in the single-arm study and treated with RTX, 9 (39.1%) achieved partial or complete remission within 6 months. Depletion of B cells occurred in all patients with RTX therapy. Thirty patients (50.8% of 59 patients analyzed) experienced mild and transient infusion reaction during RTX administration, and most adverse events were mild. Conclusions RTX administration was safe and effective in patients with difficult-to-treat NS. One or 2 doses of RTX may be sufficient to deplete B cells and achieve better control of pediatric NS.

Recent advances in the genetics of glomerular diseases have identified several causative genes of nephrotic syndrome and/or glomerular proteinuria. In 2010, the INF2 gene, which encodes a member of the formin family of actin-regulating proteins, was identified as a novel causative gene of the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). Here, we describe an additional familial case of FSGS associated with INF2 mutations. In the family, two siblings and their father had a heterozygous p.E220K mutation on INF2. This mutation manifested in these three individuals as incidentally detected proteinuria without overt nephrotic syndrome, but at different ages of 7, 9, and 30 years, respectively. Two siblings had nephrotic range proteinuria, and one developed end-stage renal disease 5 years later. Conversely, their father had a modest degree of proteinuria, and maintained normal renal function until age 47. A renal biopsy of one of the siblings revealed FSGS with irregular podocyte foot process morphology and focal glomerular basement membrane changes. This is the second paper describing a familial case of FSGS associated with INF2 mutations as well as intrafamilial phenotype variability.

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

As the use of ultrasound for regional anesthesia has increased, many studies have examined the distribution of local anesthetic and the location of the needle tip. Nevertheless, the relationship between motor stimulation threshold and distribution of local anesthetic is unclear. The aim of this study was to compare block onset time, distribution of local anesthetic, and location of the needle tip at two different motor stimulation thresholds, i.e., 0.2 and 0.5 mA, used in combination with ultrasound guidance. This study included 94 patients undergoing arthroscopic shoulder surgery with ultrasound-guided interscalene brachial plexus block (ISBPB) plus nerve stimulation. Patients were randomized into two groups for the ISBPB procedure, i.e., when an evoked motor response was obtained at a current intensity of either 0.2 mA (Group 0.2) or 0.5 mA (Group 0.5). Block onset time, location of the needle tip, and distribution of local anesthetic were assessed. A response was elicited at the appropriate motor stimulation threshold in 88 patients (Group 0.2 = 43; Group 0.5 = 45). Block failure occurred in only three patients, all of whom were in Group 0.5. The mean [standard deviation (SD)] of block onset time was 8.0 (4.1) min in Group 0.2 and 11.4 (5.9) min in Group 0.5 [mean difference, 3.4 min; 95% confidence interval (CI), 1.2 to 5.9; P = 0.003]. The needle tip was located at a intraplexus position in 33 (77%) patients in Group 0.2 and in 15 (33%) patients in Group 0.5 (difference in proportion, 43%; 95% CI, 23 to 59; P < 0.001). The intramuscular spreading of local anesthetic occurred in 0 (0%) patients in Group 0.2 and in 8 (18%) patients in Group 0.5 (difference in proportion, 18%; 95% CI, 6 to 31; P = 0.007). The onset time of the block was significantly faster with a motor stimulation threshold of 0.2 mA than with a threshold of 0.5 mA.

The effect of Ta substitution for Zr in the Ni–Zr–Nb–Al metallic glass alloys has investigated by using thermal analysis, X-ray diffractometry and transmission electron microscopy. Small additions of Ta improve the glass forming ability (GFA) of the alloys Ni 61 Zr 28− x Nb 7 Al 4 Ta x ( x = 0, 2, 4, 6, 8). The glass transition and crystallization temperatures increase with increasing Ta content up to 8 at.%. The liquidus temperature also increases, but less rapidly, resulting in the increase of T rg and γ values compared with the quaternary Ni–Zr–Nb–Al alloy. Fully glassy rods with the diameter of up to 2 mm can be fabricated by a copper mold casting method. The addition of Ta remarkably improves the plasticity under compression. The compressive strength and macroscopic plastic strain of the bulk metallic glass Ni 61 Zr 24 Nb 7 Al 4 Ta 6 alloy are 3080 MPa and 5%, respectively. The enhanced plasticity can be ascribed to local chemical inhomogeneity resulting from the existence of atom pair with positive enthalpy of mixing in the liquid state.

The plastic strain before failure in as-cast Ti-rich Ti–Zr–Be–Cu–Ni BMGs varies to a large degree depending on the alloy composition, i.e. when the first crystallization product is quasicrystalline phase, higher plastic strain is observed. A possible reason for the enhancement of plasticity is the existence of quenched-in icosahedral nuclei embedded in the amorphous matrix.

가와사키병은 다른 원인이 없는 발열과 함께 피부점막에 특징적인 병변을 보이는, 소아에서는 비교적 흔한 질환으로 일반적으로 급성기에는 혈역학적으로 안정적이다. 저자들은 심한 저혈압과 함께 급성 신손상이 있는 상태에서 내원한 8세 남아가 치료 중에 가와사키병으로 진단된 증례를 경험하였다. 최근에는 가와사키병 초기에 불안정한 혈역학적 상태를 가와사키병 쇼크증후군이라는 개념으로 정의하고 있다. 환아는 면역글로불린 치료 후 임상적으로 회복되었으나 관상동맥 확장 합병증이 확인되어 아스피린을 복용하고 있으며, 가와사키병의 합병증으로서는 비교적 드문 고혈압이 확인되어 베타 차단제를 사용하고 있다. 본 증례를 통해 가와사키병 쇼크증후군의 임상 양상을 알고, 혈관염이라는 가와사키병의 특성을 고려해볼 때 혈압 모니터링의 중요성을 깨닫게 되었다.

Biofilms are commonly associated with an increased risk of catheter-associated infection. To study the efficacy of materials designed to reduce biofilm formation, microbial biofilms on clinically used urinary catheter were examined. We performed 2, 3-bis (2-methyoxy-4-nitro-5-sulfo-phenyl)-2H-tetrazolium-5-carboxanilide (XTT) reduction assay to determine of biofilm formation ability and observed with scanning electron microscopy (SEM) to analyze biofilm architecture. Additionally, we calculated relative cell surface hydrophobicity (CSH) to measure hydrophobicity of microorganisms. On SEM, catheter surfaces made of latex or anti-infective (IC)-latex were rough but those of silicone, hydrogel-coated silicone (HCS), or silver-alloy-coated silicone (SCS) were relatively smoother. According to XTT reduction assay, biofilm formation was reduced on the surface of smooth silicone-based catheters compared to rough latex-based catheters. The greatest to lowest formation of microbial biofilm were as follows for these material types: silicone-elastomer- coated (SEC) latex > latex > silicone > IC-latex > HCS > SCS. Catheter materials can affect the microbial biofilm formations. First, rougher surfaces on the catheter made the microbial attachment easier and a greater amount of biofilm was formed. Second, when chemicals that inhibit growth and attachment of microorganisms on the inner and outer surfaces of the catheters were applied, the biofilm formation was inhibited. SCS was found to be the most effective in reducing the microbial biofilm formation. These results indicate that microbial biofilm formation may be closely related to the surface roughness and microbial CSH.

Atypical hemolytic uremic syndrome (aHUS) is a rare disease with a genetic predisposition. Few studies have evaluated the disease in the Asian population. We studied a Korean pediatric cohort to delineate the clinical characteristics and genotypes.A multicenter cohort of 51 Korean children with aHUS was screened for mutations using targeted exome sequencing covering 46 complement related genes. Anti-complement-factor-H autoantibody (anti-CFH) titers were measured. Multiplex ligation-dependent probe amplification assay was performed to detect deletions in the complement factor-H related protein genes (CFHR) in the patients as well as in 100 healthy Korean controls. We grouped the patients according to etiology and compared the clinical features using Mann-Whitney U-test and chi-squared test.Fifteen patients (group A, 29.7%) had anti-CFH, and mutations were detected in 11 (group B, 21.6%), including one with combined mutations. The remaining 25 (group C, 49.0%) were negative for both. The prevalence of anti-CFH was higher than the worldwide level. Group A had a higher onset age than group B, although the difference was not significant. Group B had the worst renal outcome. Gene frequencies of homozygous CFHR1 deletion were 73.3%, 2.7% and 1% in group A, group B + C and the control, respectively.The incidence of anti-CFH in the present Korean aHUS cohort was high. Clinical outcomes largely conformed to the previous reports. Although the sample size was limited, this cohort provides a reassessment of clinicogenetic features of aHUS in Korean children.

Introduction Henoch–Schönlein purpura is an immunoglobulin A-mediated, small vascular inflammatory disease that can be associated with palpable purpura, arthralgia, abdominal pain, or nephritis. The presence of purpura facilitates the diagnosis of Henoch–Schönlein purpura at the onset of associated symptoms, whereas the absence of purpura makes the diagnosis challenging. It is important to diagnose Henoch–Schönlein purpura with delayed-onset skin purpura to avoid unnecessary surgery for acute abdomen. Most cases of Henoch–Schönlein purpura with severe abdominal pain are treated with low-dose steroids and intravenous immunoglobulin. Case presentation A 15-year-old Korean girl complained of severe abdominal pain and delayed-onset purpura on admission. Henoch–Schönlein purpura was diagnosed based on endoscopic findings of hemorrhagic duodenitis and duodenal vasculitis and abdominal computed tomography findings of edematous bowels. Two common initial treatments, a low-dose steroid and intravenous immunoglobulin, were administered, but there was no improvement for 1 month. Subsequently, we used high-dose intravenous methylprednisolone pulse therapy (30mg/kg/day, with a maximum of 1g/day), which dramatically alleviated her abdominal symptoms. Conclusions High-dose intravenous methylprednisolone pulse therapy can be used as the ultimate treatment for delayed-onset Henoch–Schönlein purpura with severe abdominal pain when symptoms do not improve after low-dose steroid and intravenous immunoglobulin treatments.

Introduction: We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. Methods: A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 and August 2011, and who were seen in the Pediatric Department at the Jeju National University Hospital. Results: Two hundred four children (136 boys and 68 girls) were enrolled in this study. Simple FS was found in 107 children, and complex FS was found in 97 children. The average age at the first FS was 18.9 months. The average total number of FSs was 4.3. A family history of FS or epilepsy was found in 29.4% and 7.8% of patients, respectively. Abnormal findings of EEG were observed in 35.8%. Complex features in the first FS were noted in 28.9%. Subsequent unprovoked seizures occurred in 23.0%. Univariate analysis showed that low parental educational level was one of several variables that were significantly related to unprovoked seizure. Parental educational level was not included in the multivariate model because of an insufficient sample size. Multivariate analysis identified the following factors as significant predictors of unprovoked seizure: late onset of FS at age > 3 years, complex features in the first FS, family history of epilepsy, and abnormal findings on EEG, and FS developed at a body temperature of

Candida albicans is a dimorphic fungus that commensally colonizes human mucosal surfaces. The aim of this study was to assess the role of different C. albicans morphologies in inducing pattern recognition receptors (PRRs) and cytokines in macrophages. Macrophages may respond to pathogen-associated molecular patterns via TLR2 and TLR4 by expressing cytokines. The hyphal transition of C. albicans was induced by 20% serum (S), RPMI-1640 (R), or 39℃ culture (H). Macrophages were then challenged with either yeast (Y) or different hyphae cultures of C. albicans, followed by RT-PCR and FACS analysis of PRRs expression. In addition, macrophages were stimulated with either yeast or different hyphae cultures of C. albicans used by RT-PCR and Bio-Plex analysis of cytokines production. Macrophages expressed high levels of TLR4 and dectin-1 after stimulation with Y cells. In contrast, stimulation with H or R cells strongly increased the expression of TLR2 and dectin-2. Stimulation with Y cells significantly enhanced the expression of IL-1β and weakly increased the expression of IL-6 and IL-12. Stimulation with hyphal cells (S, R, and H) strongly increased IL-10 expression, but weakly reduced IL-1β expression. The phagocytosis activity and NO production of macrophages were decreased upon treatment with hyphal cells compared with yeast, and depended on the length of hyphae. In summary, the yeast and hyphae forms of C. albicans resulted in an induction of different PRRs, with accompanying differences in immune cell cytokine profiles.

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

Thromboembolic complications (TECs) are clinically important sequelae of nephrotic syndrome (NS). The incidence of TECs in children is approximately 2%–5%. The veins are the most commonly affected sites, particularly the deep veins in the legs, the inferior vena cava, the superior vena cava, and the renal veins. Arterial thrombosis, which is less common, typically occurs in the cerebral, pulmonary, and femoral arteries, and is associated with the use of steroids and diuretics. Popliteal artery thrombosis in children has been described in cases of traumatic dissection, osteochondroma, Mycoplasma pneumoniae infection, and fibromuscular dysplasia. We report of a 33-month-old girl with bilateral iliac and popliteal arterial thrombosis associated with steroid-resistant NS due to focal segmental glomerulosclerosis. Her treatment involved thrombectomy and intravenous heparinization, followed by oral warfarin for 8 months. Herein, we report a rare case of spontaneous iliac and popliteal arterial thrombosis in a young child with NS.

Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia that is caused by mutations in the sodium-glucose cotransporter SGLT2 coding gene, SLC5A2.We conducted molecular and phenotype analyses of a cohort of 23 unrelated Korean children with FRG.Mutational analysis of the SLC5A2 gene was conducted in this multicenter study organized by the Korean Society of Pediatric Nephrology.A total of 21 different SLC5A2 mutations were detected, including 19 novel mutations. All patients had at least one mutated allele; ten patients had homozygous or compound heterozygous mutations and 13 patients had a single heterozygous mutation. Most mutations were private. Patients with two mutations were diagnosed earlier with larger amounts of urinary glucose excretion than patients with single mutations. Pedigree analysis data were consistent with the inheritance of a codominant trait with incomplete penetrance.These findings extend the allelic heterogeneity in FRG and confirm previous observations of inheritance and genotype–phenotype correlation in patients with this disease.

Background. Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V). Methods. Clinico-genetic features of a nationwide cohort of 26 Korean children with BS were investigated. Results. The clinical diagnosis was aBS in 8 (30.8%), cBS in 15 (57.7%) and mixed Bartter–Gitelman phenotype in 3 cases (11.5%). Five of eight patients with aBS and all 18 patients with either cBS or mixed Bartter–Gitelman phenotype had CLCNKB mutations. Among the 23 patients (46 alleles) with CLCNKB mutations, p.W610X and large deletions were detected in 25 (54.3%) and 10 (21.7%) alleles, respectively. There was no genotype–phenotype correlation in patients with CLCNKB mutations. Conclusions. Twenty-three (88.5%) of the 26 BS patients involved in this study had CLCNKB mutations. The p.W610X mutation and large deletion were two common types of mutations in CLCNKB. The clinical manifestations of BS III were heterogeneous without a genotype–phenotype correlation, typically manifesting cBS phenotype but also aBS or mixed Bartter–Gitelman phenotypes. The molecular diagnostic steps for patients with BS in our population should be designed taking these peculiar genotype distributions into consideration, and a new more clinically relevant classification including BS and Gitelman syndrome is required.

Recently, urinary exosomal WT1 has been proposed as a novel biomarker for simple podocyte injury. We investigated urinary exosomal WT1 to confirm its role as a non-invasive biomarker for predicting steroid responsiveness or renal pathological conditions in patients with idiopathic nephrotic syndrome (NS). CASE DIAGNOSIS: Forty children with active NS were recruited. Twenty-eight (70%) were steroid-sensitive, including 3 with minimal change NS (MCNS) and 1 with focal segmental glomerulosclerosis (FSGS). The remaining 12 (30%) were steroid-resistant, including 8 with FSGS and 4 with MCNS. Urinary exosomes were isolated by a differential centrifugation method, and WT1 was measured by Western blot analysis.WT1 was detected in 25 patients (62.5%). There was no significant difference in the proportion of the patients with a detectable amount of WT1 according to steroid responsiveness or renal pathological condition, the amount of WT1 showed no significant difference according to steroid responsiveness or renal pathological condition, and there was no significant difference in the amount of proteinuria between patients with or without detectable WT1.Urinary exosomal WT1 was detected in some patients with NS. However, its role as an appropriate biomarker in childhood NS was not verified in this study.

In this study, we investigated defective egocentric reference frame in hemispatial neglect patients. Compared to previous study which was performed in restricted situation, we considered role of head movements in the egocentric reference frame. Hemispatial neglect patients showed different pattern of the egocentric reference frame depend upon the visual target position. They reported unimpaired egocentric reference frame in the left visual target, and rightward shifted egocentric reference frame was gradually increased as the visual target was appeared on the right side.

Objectives Rituximab (RTX), anti-CD20 monoclonal antibody, has been proposed as a rescue therapy for refractory nephrotic syndrome (NS) on the basis of favorable clinical observations. While reported efficacy of RTX on refractory RTX is promising, the long-term effect obtained from randomized clinical trial is limited, let alone the long-term safety profile of RTX in these patients. To obtain solid evidence of efficacy and safety of this medication, we conducted a clinical trial to evaluate the efficacy and safety of RTX in children with refractory NS. Here we report the interim result. Methods A multicenter open-label trial was performed in Korean pediatric patients, a single-arm study for steroid and calcineurin inhibitor (CNI) resistant (resistant NS, RNS), and a randomized controlled trial for steroid and CNI-dependent NS (dependent NS, DNS) patients. Eight major centers of Korea participated in this trial. Patients received a single dose of intravenous RTX (375 mg/m 2 ) and efficacy was monitored by clinical response and CD19 cell count. Primary end point was rate of remission achievement for RNS and maintenance of remission for DNS at 6 months after treatment. Steroid and CNI were slowly tapered as scheduled if remission was achieved. Results Nineteen patients (mean age 9.2±4.7 years) with RNS were enrolled and seven patients achieved complete remission after RTX treatment (remission rate 36.8%). Fifty-three children (mean age 13.0±4.9 years) with DNS were included and randomized to standard treatment or RTX (2:1). At six months after treatment, the remission rates were 77.1% in RTX arm (n=35) and 38.9% in standard therapy arm (n=18). The mean durations of remission maintenance were 5.2 months under slow-tapering standard therapy arm and undetermined in RTX arm. Twenty four patients (44.4% of 54 patients) experienced mild and transient infusion reaction during RTX administration. However, no serious side effect was observed. Conclusions In this interim analysis of clinical trial to evaluate the efficacy and safety of RTX in children with refractory NS, RTX treatment for refractory NS was safe and effective, especially in patients with DNS.

MYH9-related disorders are a group of autosomal, dominantly inherited disorders caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA (NMMHC-IIA). May–Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes belong to this group. Macrothrombocytopenia is a common characteristic associated with MYH9-related disorders, and basophilic cytoplasmic inclusion bodies in leukocytes (Dohle-like bodies), deafness, cataracts, and glomerulopathy are also found in some patients. In this study, renal manifestations of 7 unrelated Korean patients with MYH9-related disorders were analyzed. Of a total of 7 patients, 4 had disease-related family histories. One familial case had a mutation in the tail domain of NMMHC-IIA and showed milder renal involvement with preserved renal function by his 30s. Among the 3 familial cases without renal involvement, 2 had mutations in the tail domain of NMMHC-IIA and 1 had a mutation in the motor domain. The remaining 3 sporadic cases had severe renal involvement with rapid progression to end-stage renal disease and mutations located in the motor domain. In summary, mutations in the motor domain of NMMHC-IIA and negative family history were associated with severe renal involvement in patients with MYH9-related disorders. These results are in agreement with those of previous reports.

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and secondary PHA1 associated with urinary tract diseases. Amongst these diseases, autosomal dominant PHA1 shows has manifestations restricted to renal tubules including a mild salt loss during infancy and that shows a gradual improvement with advancing age. Here, we report a neonatal case of PHA1 with a NR3C2 gene mutation (a heterozygous c.2146_2147insG in exon 5), in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. This is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea.

Reactive AA amyloidosis is caused by the accumulation of the acute phase reactant, serum amyloid A (SAA), as a complication of chronic inflammatory conditions. Cyclic neutropenia is a rare hereditary disorder characterized by repeated episodes of neutropenia at regular intervals, with or without concurrent infection, and is known to be a rare cause of AA amyloidosis. Here, we report a case of a patient who developed systemic AA amyloidosis following a prolonged course of undiagnosed cyclic neutropenia. The patient had a history of recurrent infections since infancy and developed goiter, proteinuria, and azotemia at age 14 years. Her SAA level was markedly increased (601.8 μg/mL, normal range