Negative evidences in association between apolipoprotein E polymorphism and panic disorder.

The aim is to investigate the association between apolipoprotein E (ApoE) and panic disorder (PD). Genotyping 92 PD patients [Diagnostic Statistic Manual IV (DSM IV) criteria] and 174 controls no differences were found between both groups. Variation in the ApoE-gene was not associated with the development of PD.     

Interactions of Junin and Tacaribe viruses during mixed infections

The interaction between Junin virus (JV) and Tacaribe virus (TACV) during mixed infections of RK13 cells was examined. The effects of a prior infection with JV upon TACV replication depended on the time between the two inoculations. Simultaneous infection of RK13 cells with TACV and JV did not alter the plaquing efficiency of TACV; but if there was a 1- to 24-hour delay between JV preinfection and TACV superinfection, a variable increase of TACV replication was observed. The enhancement of TACV replication by preinfection with JV was dependent on several factors, such as the MOI of both viruses and the integrity of the JV genome. This effect was also highly specific, as the plaquing efficiencies of the arenavirus Pichinde and the unrelated vesicular stomatitis virus were not affected by preinfection with JV at any multiplicity assayed. The majority of the progeny formed in cells superinfected with TACV 1 or 24 h after JV infection was partially neutralized by antisera to both viruses. This suggested that phenotypic mixing, with JV or TACV genomes enclosed within an envelope containing TACV and JV glycoprotein, had occurred.     

Temperature sensitivity of the arenavirus junin isolated from persistently infected Vero cells.

A persistently infected cell culture was established from Vero cells surviving primary infection with wild-type Junin virus (JVwt). The cells were refractory to superinfection by both Junin virus and the related Tacaribe virus. Replication of virus released from the persistently infected cells (JVpi) was inhibited at 39 degrees. JVpi did not interfere with JVwt at 37 degrees, and it was inactivated at 37, 40, 43, 46 and 50 degrees much more rapidly than was JVwt.     

Modified Senning operation for treatment of transposition of the great arteries.

Since February, 1978, 42 infants ranging in age from 15 days to 16 months (mean age 6 months) and weighing between 2.0 and 9.0 kg (mean weight 5.8 kg) underwent a modified Senning I operation. Eleven (26%) underwent operation during the first 3 months of life. Twenty-nine patients had dextro-transposition of the great arteries (d-TGA) and an intact ventricular septum (Group I), and 13 patients had d-TGA and a large ventricular septal defect (VSD) (Group 2). In addition to the Senning I procedure, 13 patients had transatrial closure of their VSD, eight had ligation of a patient ductus arterioses, two had removal of a pulmonary artery band, and four had trans-pulmonary artery resection of short-segment subpulmonary stenosis. Modification of the original Senning operation included (1) patch augmentation (pericardium or Gore-Tex) of the atrial septal flap and (2) pericardial patch enlargement of the pulmonary venous pathway. One patient in Group 1 (3%) and two patients in Group 2 (15%) died after operation. A 2-week-old infant (Group 1) was treated with prostaglandin E1 (PGE) for 2 weeks before operation. The other hospital deaths (Group 2) occurred in a 2-month-old infant with advanced ischemic damage to the right ventricle and a 4-month-old child with multiple VSDs and Grade IV pulmonary vascular disease. No caval gradients were found after modification of the right atrial incision. Two patients died later from pulmonary venous obstruction, one during attempted recatheterization and the other after repair of the pulmonary venous obstruction. One patient had transient complete heart block, and four were discharged in junctional rhythm. Thirty-four patients (87%) were in regular sinus rhythm when released from the hospital. Postoperative catheterizations in eight patients showed no significant gradients in six and severe pulmonary venous obstruction in two (late deaths). More late postoperative results are required, including postoperative catheterization and electrophysiological studies, before the relative merits of the Senning versus the Mustard operation can be assessed.     

KCNQ1 gene variants and risk of new-onset diabetes in tacrolimus-treated renal-transplanted patients

Recent genome-wide association studies identified single-nucleotide polymorphisms (SNPs) in the gene encoding the pore-forming subunit of the voltage-gated K+ channel (KCNQ1) as a risk factor for type 2 diabetes. Tacrolimus (Tac) increased the risk of new-onset diabetes after transplantation (NODAT). The aim of this study was to analyze the association between KCNQ1 variants and the risk for NODAT in kidney-transplanted patients who received Tac as primary immunosuppressor. We genotyped three common KCNQ1 SNPs in 145 Spanish patients who received a cadaveric kidney graft and developed NODAT in the first-year post-transplant (the NODAT group), and 260 patients who remained non-diabetics (non-NODAT). In addition, we searched for DNA variants in the whole KCNQ1 coding exons in these patients. SNP rs2237895 (genotype CC) was associated with an increased risk for NODAT in our population (p = 0.008; OR = 1.83, 95% CI = 1.14-2.93), independently of other risk factors as body mass index, recipient age, or tacrolimus dosage. Other KCNQ1 variants were not associated with NODAT in our patients. Our work supported a role for KCNQ1 gene variants as determinants of the risk of developing NODAT among Tac-treated patients.     

Hypertrophic cardiomyopathy and athlete's heart: a tale of two entities

Sudden death during sports activities, although unfrequent,is a tragic event with great impact on both the general andmedical communities. The two commonest conditions leading tosudden cardiac death in young athletes are hyperthrophic cardiomyopathy(HCM), the main cause in the USA, and arrythmogenic right ventricularcardiomyopathy, which is the leading cause in Europe. We report the case of a 17-year-old football player with a pathologicalelectrocardiography (ECG) in the pre-participation screeningprogramme, highly suggestive of HCM, in which ECG study showeda septum thickness of 28 mm. Genetic analysis revealed R 495W mutation in the 18 exon of the MyBPC3 (myosin-binding proteinC) and sports activities were contraindicated. Two years later,septum thickness was 19.5 mm. Usefulness of 12-lead ECG, differentialdiagnosis between athlete's heart and HCM, and the stratificationin patients with HCM are discussed.     

Concordance, disease progression, and heritability of coeliac disease in Italian twins

BACKGROUND AND AIMS: We adopted the twin method to disentangle the genetic and environmental components of susceptibility to coeliac disease (CD). We estimated disease concordance rate by zygosity and HLA genotypes, discordance times, progression rates to disease, and heritability. METHODS: We crosslinked the Italian Twin Registry with the membership lists of the Italian Coeliac Disease Association and recruited 23 monozygotic (MZ) and 50 dizygotic (DZ) twin pairs with at least one affected member. Zygosity was assigned by DNA fingerprinting, and HLA-DQ and DR alleles were genotyped. Disease status was ascertained by antiendomysial, anti-human tissue transglutaminase antibodies, and bowel biopsy. RESULTS: Concordance was significantly higher in MZ (83.3% probandwise, 71.4% pairwise) than in DZ (16.7% probandwise, 9.1% pairwise) pairs. Concordance was not affected by sex or HLA genotype of the co-twin and being MZ was significantly associated with the occurrence of CD (Cox adjusted hazard ratio 14.3 (95% confidence interval 4.0-50.3)). In 90% of concordant pairs the discordance time was 相似文献