Air test as a simple method of screening for Hirschsprung's disease.

AIM: To present the technique and the diagnostic accuracy of the air test to diagnose Hirschsprung's disease (HD). MATERIALS AND METHODS: Children who attended hospital for chronic constipation (CC) between January 2012 and December 2016 for whom the air test was performed were enrolled. The test was conducted during contrast enema under fluoroscopic observation using 20-50 ml injections of air into the rectum through a 10 F Nelaton catheter. The demographics, results of the air test, and additional examinations, as well as the outcomes of subsequent treatments were analysed retrospectively. RESULTS: The air test was conducted in 179 patients (median: 3 years, range: 0-14 years), and was positive in 150 and negative in 29 cases. Of the 29 patients with negative results, four were diagnosed with HD by rectal suction biopsy (RSB). Of the remaining 25 patients, RSB was conducted in seven and HD was excluded in all cases. In all 150 patients with positive air test results, CC was adequately controlled with conservative treatment. The sensitivity and specificity of the air test were 100% (4/4) and 85.7% (150/175), respectively. CONCLUSIONS: The air test can be used as a new non-invasive screening method for HD, performed simultaneously with contrast enema.

Simultaneous monitoring by real-time polymerase chain reaction of epstein-barr virus, human cytomegalovirus, and human herpesvirus-6 in juvenile and adult liver transplant recipients.

Cytomegalovirus (CMV), Epstein-Barr virus (EBV), and human herpesvirus-6 (HHV-6) cause symptomatic diseases in liver transplant recipients. The loads of these viruses, the associations between viral DNAemia, serologic status, and acute rejection reactions were investigated in a group of 17 juvenile and 17 adult recipients of living donor liver transplantation (LDLT) for a median of 8 weeks posttransplantation. At least 1 plasma sample from 15/34 (44.1%) patients was positive for CMV DNA. For most of the CMV-positive patients, the CMV DNA appeared in the second week of LDLT, and disappeared by the eighth week. A minimum of 200 EBV DNA copies/mug peripheral blood mononuclear cell DNA (defined as positive for EBV) was detected in 5/34 (14.7%) patients, and the number of EBV-positive children was significantly greater than the number of EBV-positive adults. In most of the EBV-positive patients, the EBV loads increased after 4 weeks posttransplantation. Plasma HHV-6 was detected in 7/34 (20.6%) patients. HHV-6 DNA appeared for a short period from the second week of LDLT. In addition, 8 of the 19 virus-positive recipients carried 2 viruses, with the combination of CMV and HHV-6 being the most frequent. Serologic status seemed to be an important factor for all 3 viral infections. The rate of acute cellular rejection was not significantly higher in the CMV-, EBV-, or HHV-6-positive groups. Simultaneous monitoring for 3 herpesviruses revealed the impact of these viruses on LDLT recipients.

Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes.

A 17-year-old girl (S.M.) and a 13-year-old girl (C.L.) both with Ullrich-Turner syndrome (UTS) were found to have 45,X/46,X, + mar mosaicism. The marker chromosomes in both patients were very small in size. In S.M. the marker chromosome was present in 80% of phytohemagglutinin-stimulated lymphocytes, 28% of skin fibroblasts, and 11-20% of gonadal fibroblasts. In C.L., the small marker chromosome was found in 50% of stimulated lymphocytes. S.M. is of normal height, but C.L. is short. Molecular hybridization with a number of Y-specific DNA probes demonstrated their presence in S.M. but absence in C.L. In situ hybridization with Y-specific and X-centromere-specific DNA probes confirmed the Y origin of the marker chromosome in S.M. and the X origin of the minute chromosome in C.L. Biotinylated centromere and telomere probes were also used for in situ hybridization to show the presence of centromeric and telomeric sequences in the Y-marker chromosome, suggesting that the deletion of this marker chromosome is interstitial.

Chromosome aberrations and oncogene alterations in two new breast tumor cell lines.

Two new breast tumor cell lines (UISO-BC-1 and UISO-BC-2) have been established from pleural effusions obtained from patients with confirmed diagnosis of breast cancer. Cytogenetic investigation shows several numerical and structural aberrations in both cell lines. Each cell line appears to have distinctive karyotypic aberrations. Although a common marker chromosome was not found in both cell lines, several breakpoints (i.e., 1q11, 3q11, 7p11, 9q11, and 13q11) were commonly involved in the marker chromosomes of both lines. Double minute (dmin) chromosomes were also observed in these two cell lines. Sixteen oncogene probes were used to study the oncogene amplification and overexpression; among these, only neu and c-myc probes detected multiple gene copies. A 10-fold amplification and a 20-fold overexpression of the neu were observed in the UISO-BC-1 line, whereas a threefold and a fivefold amplification of c-myc were found in UISO-BC-1 and UISO-BC-2, respectively. Moderately enhanced expression (sixfold) of c-myc was also observed in the UISO-BS-2 line. No gross rearrangement of these genes or aberrant RNAs was detected in these tumor cell lines.

Chromosome localization of two human serine protease genes to region 14q11.2----q12 by in situ hybridization.

Two human serine protease genes have been cloned. One corresponds to CTLA1, the human equivalent of the mouse cytotoxic cell protease gene Ctla-1, and the other is novel. Both genes were localized to 14q11.2----q12 by in situ hybridization. This result confirms the assignment of human CTLA1 to 14q11.2----q12 and provides new mapping data for another human serine protease gene located in the same chromosome region.