The appearance of dextranomer-hyaluronic acid copolymer implants on ultrasound may predict resolution of vesicoureteral reflux after injection therapy.

AIM: To investigate the correlation between implant appearance on ultrasound (US) and voiding cystourethrography (VCUG) results after dextranomer-hyaluronic acid copolymer (DxHA) injection in children with vesicoureteral reflux (VUR). MATERIALS AND METHODS: Consecutive cases of primary VUR treated by endoscopic subureteral injection of DxHA were retrospectively reviewed. All children had postoperative bladder US and VCUG with a mean interval of 34 days and 47 days after injection, respectively. VUR resolution at postoperative VCUG was considered as treatment success. Implant appearance on US was graded according to the retained volume and its location by visual inspection; it was then correlated with VCUG results using the Spearman correlation coefficient. RESULTS: A total of 36 children (56 ureters) were identified in which 38 ureters (68%) had a clearly visualized implant on postoperative US and 40 ureters (71%) showed VUR resolution. The sensitivity of implant visualization on US for predicting reflux resolution was 73% (29/40), specificity 44% (7/16), positive predictive value 76% (29/38), and negative predictive value 39% (7/18). The grade 1, grade 2, and grade 3 implant appearances showed VUR resolution in 88% (22/25), 54% (7/13), and 61% (11/18), and showed persistent VUR in 8% (2/25), 15% (2/13), and 28% (5/18), respectively (p = 0.032). CONCLUSION: The implant appearance on postoperative US showed good correlation with VCUG results in the early post-injection period. Large retained implants were associated with treatment success, while small or non-visualized implants were related to the persistent reflux.

Hepatic tumours in children with biliary atresia: single-centre experience in 13 cases and review of the literature.

AIM: To establish the risks of developing of hepatic tumours and to investigate their clinical and imaging findings in children with biliary atresia (BA) after Kasai portoenterostomy (Kasai). MATERIALS AND METHODS: Among 157 children who had undergone Kasai for BA over an 18 year period, patients who had newly developed hepatic tumours were identified. Patient demographics, clinical features, and imaging findings were retrospectively reviewed. RESULTS: Three male and 10 female patients (mean age 3.9 years) all (8%, of 157) had single hepatic tumours, which were confirmed in 10 explanted and three non-explanted livers. Ten (77%) were benign and three (23%) were malignant. Of the benign hepatic tumours, focal nodular hyperplasia (FNH; n = 6) was the most common, followed by regenerative nodules (n = 3) and adenoma (n = 1). All FNH appeared in young children <1 year of age and showed a subcapsular location, bulging contour, and lack of central scar. Malignant tumours included two hepatocellular carcinomas and one cholangiocarcinoma. CONCLUSION: Hepatic tumours developed in approximately 8% of children with BA after Kasai. Although benign tumours, including FNHs and regenerative nodules, were more common than malignant tumours, screening with alpha-foetoprotein (AFP) levels and regular imaging studies are the mainstay of malignant tumour detection.

Serial ultrasound findings associated with early liver transplantation after Kasai portoenterostomy in biliary atresia.

AIM: To investigate the ultrasound findings associated with early liver transplantation (LT) after Kasai portoenterostomy (Kasai) in children with biliary atresia (BA). MATERIALS AND METHODS: Children with BA (n = 30) who underwent Kasai were classified into early LT group (n = 17, LT within 1 year after Kasai) and Kasai alone group (n = 13, alive with their native livers). Serial ultrasound (baseline and follow-up before LT or post-Kasai 1 year) images were reviewed to investigate significant ultrasound findings related to early LT using both univariate and multivariate models. Images were reviewed focusing on the hepatic artery diameter, portal vein diameter, and signs of portal hypertension. RESULTS: The hepatic artery diameters in the early LT group were significantly larger than those in the Kasai alone group both at baseline (p = 0.007) and follow-up ultrasound (p < 0.001). The portal vein diameters on follow-up ultrasound were smaller in the early LT group than the Kasai alone group (p < 0.001). On multivariate analysis, baseline hepatic artery diameter (hazard ratio, 20.4; 95% confidence interval, 3.7-110.6; p < 0.001) and the presence of splenomegaly at follow-up ultrasound (17.7; 2.6-121.8; p = 0.004) were significant predictors associated with early LT. The optimal cut-off value of the baseline hepatic artery diameter was 1.9 mm (82% sensitivity and 77% specificity). CONCLUSION: Enlarged hepatic artery at baseline ultrasound and the presence of splenomegaly at follow-up ultrasound were associated with early LT after Kasai in children with BA.

H1N1 influenza infection in children: Frequency, pattern, and outcome of chest radiographic abnormalities.

AIM: To describe the frequency, pattern, and outcome of chest radiographic abnormalities in children with H1N1 influenza infection. MATERIALS AND METHODS: Three hundred and fourteen paediatric patients with confirmed H1N1 influenza infection who underwent chest radiography at presentation at a single institution during the outbreak in 2009 were retrospectively reviewed. Abnormal chest radiographic findings related to acute infection were analysed in terms of frequency, pattern, and distribution. Medical records and follow-up radiographs were also reviewed to assess clinical features and outcomes. RESULTS: Chest lesions suggesting acute infection were identified in 49 (16%) patients (mean age 8.2 years, range approximately 1.8-18.5 years). The most common finding was prominent peribronchial marking (71%), followed by air-space opacity (51%) with or without volume decrease, generalized hyperinflation (24%), and pleural effusion (20%). Other minor findings included pneumomediastinum (n=2) and a nodule (n=1). Distributions were bilateral (55%) or unilateral (45%) with frequent involvement of lower (78%), and middle (59%) lung zones. Thirty-nine patients (80%) were hospitalized and six (12%) required mechanical ventilation, followed by recovery. Thirty-one out of the 33 patients that underwent follow-up radiography showed marked resolution of all radiographic abnormalities. CONCLUSION: The frequency of a chest radiographic abnormality was found to be low in children with H1N1 influenza infection. Although typical radiographic findings of a viral lower respiratory infection were more common, unilateral involvement and air-space opacity were common, often with pleural effusion. Furthermore, pulmonary lesions showed near complete resolution on follow-up radiographs in the majority of patients.

Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children.

AIM: To investigate the imaging and clinical findings of central nervous system (CNS) atypical teratoid/rhabdoid tumours (AT/RTs) in children. MATERIALS AND METHODS: The computed tomography (CT) and magnetic resonance imaging (MRI) findings and clinical records of 16 children with CNS AT/RTs were retrospectively reviewed. Tumour location, size, composition, enhancement pattern, peritumoural oedema, signal intensity (SI) on MRI and CT attenuation were evaluated. RESULTS: A total of 17 lesions from 16 patients (median age 2.3 years, age range 0.7-15 years) were included in the evaluation. Tumour location was infratentorial for 11 lesions and supratentorial for six lesions. The mean diameter of the largest dimension for a tumour was 4 cm. The tumour was mainly solid in 65% of cases, and solid and cystic or cystic and solid in 35% of cases. The solid component of the tumours had a homogeneous iso SI (n=15) on T2-weighted MRI images and iso SI (n=14) on T1-weighted images. Moderate to strong enhancement of the solid component was noted in most cases. In spite of a large tumour size, peritumoural oedema was minimal or mild except in four cases. Rapid growth of the tumour was demonstrated in three cases. Seven patients died from tumour progression, with a mean survival time of 8.4 months (range 2-12 months). CONCLUSION: Although the AT/RTs had non-specific imaging findings, the tumours tended to be large in size, have iso SI on T1 and T2-weighted MR images with prominent enhancement, and relatively mild peritumoural oedema. Rapid growth of the tumour was seen during the follow-up period.

No association of the TGF-beta1 gene polymorphisms with the renal progression in autosomal dominant polycystic kidney disease (ADPKD) patients.

BACKGROUND: Two genetic loci, PKD I and PKD2, have been identified as being responsible for ADPKD, and PKD1 is known to be associated with a poor prognosis. However, the presence of an intrafamilial study clinical diversity suggests that there are disease-modifying loci. Because the mechanism ofthe renal failure in ADPKD includes a cystic growth and tubulointerstitial atrophy and fibrosis, we studied the associations between 2 polymorphisms in the TGF-beta1 gene, which are known to be associated with chronic tubulointerstitial inflammation, and ADPKD progression in Korean patients. PATIENTS AND METHODS: One hundred and twenty-five individuals who had ADPKD and 47 normal control subjects were genotyped by PCR-RFLP, the T869C (Leu10Pro) variant of TGF-beta gene leader sequence was discriminated with MspA1I and the G915C (Arg25Pro) variants with Bg1I. Statistical significances were determined using the Chi-square test. RESULTS: The distribution of the alleles for the TGF beta1 Leu10Pro polymorphism in ADPKD was: T 54%, C 46%, which was similar to the Korean (56: 44, p = 0.887) and Western controls (65: 35). In addition, no differences were found between the ESRD and the non-ESRD groups (p = 0.888) or the early hypertension and the normotension groups (p = 0.249). The distribution of alleles for the TGF beta1 Arg25Pro polymorphism showed only the GG type which was different from the Western population controls (G:C = 90:10, p = 0.000). CONCLUSIONS: Our results suggest that the polymorphism at Arg25Pro of TGF-beta1 in the Korean population has an allele distribution different from that ofthe Western population and that the polymorphism at Leu10Pro of TGF-beta1 has no association with the renal progression in Korean ADPKD patients.

Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

Mutations at the PKD1 locus account for 85% of cases of the common genetic disorder called autosomal dominant polycystic kidney disease (ADPKD). Screening for mutations of the PKD1 gene is complicated by the genomic structure of the 5'-duplicated region encoding 75% of the gene. To date, more than 90 mutations of the PKD1 gene have been reported in the European and American populations, and relatively little information is available concerning the pattern of mutations present in the Asian populations. We looked for mutations of the PKD1 gene in 51 unrelated Korean ADPKD patients, using polymerase chain reaction (PCR) with primer pairs located in the 3' single-copy region of the PKD1 gene and by single-strand conformation polymorphism (SSCP) analysis. We found three novel mutations, a G to A substitution at nucleotide 11012 (G3601S), a C to A substitution at nucleotide 11312 (Q3701X), and a C to T substitution at nucleotide 12971 (P4254S), and a single polymorphism involving a G to C substitution at nucleotide 11470 (L3753L). These mutations were not found in control individuals, and no other mutations in the 3' single-copy region of the PKD1 gene of patients with these mutations were observed. In particular, P4254S segregated with the disease phenotype. The clinical data of affected individuals from this study, and of previously reported Korean PKD1 mutations, showed that patients with frameshift or nonsense mutations were more prone to develop end-stage renal failure than those with missense mutations. Our findings indicate that many different PKD1 mutations are likely to be responsible for ADPKD in the Korean population, as in the Western population.

Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): the first Asian report.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in adults, and the prevalence of this disease within the chronic haemodialysis patient population is known to be approximately 2% in Korea. So far, three genetic locus have been identified as being responsible for ADPKD, and approximately 85% of the cases in Western countries are related to the PKD1 gene. However, little information is available concerning the pattern of linkage analysis in Asian populations. METHODS: 48 families with hereditary renal cysts were recruited by consent and their molecular genetic characteristics were studied. Linkage analysis was done with microsatellite markers (PKD1: SM7, UT581, AC2.5, KG8, D16S418; PKD2: D4S423, D4S1534, D4S1542, D4S1544, D4S2460). Genomic DNA polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) gel run were performed, and the resultant allele patterns were compared with sonographic findings. RESULTS: The results of this study showed that the ratio PKD1:PKD2 was 31:8, and that the PKD2 families exhibited a tendency toward a milder renal prognosis than the PKD1 families. CONCLUSION: We confirmed the applicability of linkage analysis for ADPKD in the Korean population, and our data confirmed a similar incidence of PKD1 (79%) and PKD2 (21%) in Korean patients as in the Western population.

Human intravenous immunoglobulin preparation and virus inactivation by pasteurization and solvent detergent treatment.

Human intravenous immunoglobulin (IVIG) solutions were prepared by two different methods and compared to each other. The crude immunoglobulin fraction obtained from Cohn-Oncley fractionation of plasma was further purified and subjected to virus inactivation, either by polyethylene glycol precipitation and pasteurization at 60 degrees C for 10 hours, or by ion exchange chromatography and solvent/detergent treatment. The final preparations, formulated in 5% immunoglobulin solutions were characterized by in vitro analyses of biochemical and biological properties and compared with the samples of other manufacturer's IVIG solution products. The critical properties evaluated in this study were purity, molecular intactness, and the biological functions such as Fc function and anticomplementary activity. Virus inactivation and removal by processing steps and by deliberate virucidal steps, as described above, were tested on various human pathogenic viruses, such as human immunodeficiency and experimental model viruses. The tested viruses were successfully inactivated and removed. We conclude that the intravenous immunoglobulins prepared by two different methods, as described above, provide an equivalent viral safety and quality.