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Background Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified by the impact of the partner chromosome imbalance. Familial transmission studies of RCT enable obtaining empirical risk figures that are essential for genetic counseling. In this study, pedigree data from carriers of a unique t(4;19)(p15.32;p13.3), ascertained by two children with WHS phenotype, were collected through five generations and empirical risk for different pregnancy outcomes was assessed. In addition, the phenotype-karyotype correlation was studied in two unbalanced children against the phenotypes of children (literature data) with pure monosomy 4p15.32 → pter and pure trisomy 19p13.3 → pter, accordingly. The phenotype analysis was conducted using the catalogue of traits according to the Munich Dysmorphology Database. Pedigree segregation analysis was conducted by the direct method according to Stengel- Rutkowski et al. Results A double segment imbalance, trisomy 19p13.3 → pter with monosomy 4p15.32 → pter, was diagnosed in WHS progeny at birth. No essential modification of WHS phenotype by the additional trisomy 19p was observed, except for a limited survivability (death in infancy). Pedigree segregation analysis covered 39 relatives showed the probability rate for liveborn with unbalanced karyotype of 3.7 ± 3.6% (1/27), for stillbirth/neonatal death at 7.4 ± 5.0% (2/27), for miscarriage at 22.2 ± 8.0% (6/27), for the chance of having a baby without unbalanced karyotype was estimated at 66.7 ± 9.1% (18/27). In addition, the value of 7.4% for genetic counseling for any carrier of RCT at risk for single segment 19p13.3 → pter imbalance at birth was evaluated as such value have not been estimated so far. Conclusion Carriership of a t(4;19)(p15.32;p13.3) is at low risk for an unbalanced child at birth and for stillbirth/neonatal death but high for miscarriages. The chance of having a baby without unbalanced karyotype was estimated to be high. Monosomy 4p15.32 → pter together with trisomy 19p13.3 → pter as a double segment imbalance in children with WHS may be connected with a limited survivability in infancy.

Background Membranous nephropathy (MN) is a common cause of nephrotic syndrome that may progress to end-stage renal disease (ESRD). The formation of MN involves the in situ formation of subepithelial immune deposits and leads to albuminuria; however, the underlying mechanism of how MN leads to ESRD remains unclear. The aim of this study was to investigate the expression and biological functions of phosphotriesterase-related protein (PTER) in MN. Results In the progression of MN, the expression of PTER increased significantly and was mainly expressed in the renal tubular cells. Both mRNA and protein expression levels of PTER were increased in a concentration- and time-dependent manner in the in vitro albuminuria tubular cell model. Silencing the expression of PTER by RNA interference diminished albuminuria-induced inflammatory and pro-fibrotic cytokines production. Conclusions Our findings reveal that PTER may sense albuminuria in the progression of MN, induce tubular cell activation and lead to ESRD.

Recombinant allergen diagnostics have become increasingly important in daily allergological routine, made possible by inroads into the understanding of major and minor allergens accomplished within the last decade. Recombinant allergen diagnostics will, however, only provide correct diagnoses when sufficient knowledge of the regional IgE reactivity profile to a specific allergen source is available. A variety of studies in different European countries revealed reactivity profiles, where a sensitization to house dust mite could be recognized in more than 97 % of cases in which Der p1 and Der p2 were measured. The aim of this study was to investigate the IgE reactivity profiles of house dust mite allergic patients in southern Germany. Sera of house dust mite allergic patients (positive intranasal provocation) were screened for IgE antibodies against commercially available D pter., nDer p1, rDer p2 and rDer p10. IgE antibodies against D pter. could be found in 98 out of 98 sera (100 %). Seventy-five patients (76.5 %) reacted to nDer p1. In 72 patients (73.4 %), IgE antibodies against rDer p2 could be found, while IgE antibodies against rDer p10 were present in only 4 patients (4.1 %). Seventeen patients (17.3 %) had no IgE antibodies against nDer p1, rDer p2 and nDer p10, but displayed reactions to D pter. Knowledge of IgE regional reactivity profiles is necessary when using recombinant allergen diagnostics. In the case of our house dust mite allergic patients 17 would have remained undiagnosed based on a diagnostic method utilizing only the two major allergens nDerp1 and rDerp2.

Clonal +(2)(q11.2),-13 was detected in a uterine neuroectodermal tumor with ependymoblastic features arising in an infant. The tumor expressed vimentin, nestin, CD56, CD99, microtubule-associated protein 1B (MAP 1B), focally microtubule-associated protein 2 (MAP 2), synaptophysin, neuron-specific enolase, and, very focally, epithelial membrane antigen. Because trisomy 2 was previously detected in a medulloepithelioma of pelvic soft tissue and in several neuroectodermal tumors of the central nervous system, this finding is indicative of a possible role of increased dosage of gene(s) on chromosome 2 in the tumorigenesis of these neoplasms and of their histogenetic relatedness.

We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.

Neoplasm of the vulva is a rare malignancy accounting for <5% of all female genital-tract cancer. However, in recent years the incidence of vulva intraepithelial neoplasia, known to serve as a precursor to carcinoma, has increased in young women generating considerable interest in its pathogenesis. Genetic changes at the molecular level in precursor or invasive vulvar tumors are not well investigated, and DNA copy number changes have not been reported until now. We used comparative genomic hybridization (CGH) to analyze genetic alterations in 10 primary invasive squamous cell carcinomas of the vulva. Chromosomal aberrations were identified in 8/10 cases. The most frequent chromosomal losses were 4p13–pter (five cases), 3p (four cases), and 5q (two cases), and less frequent losses were detected at 6q, 11q, and 13q (one case each). The most frequent chromosomal gains were 3q (four cases) and 8p (three cases), and less frequent gains were found in 9p, 14, 17, and 20q (one case each). The pattern of chromosomal imbalance in vulvar cancer detected by CGH was revealed to be very similar to that in cervical cancers, despite regional differences in their prevalence. These results suggest that the pathogenic pathways in vulvar and cervical carcinomas may be similar and that the genetic background may be common to these two squamous cell carcinomas.

John Locke is one of the most important figures in the history of political thought. His Second Treatise on Government was one of the most significant political statements of its time and provides the foundations of liberal political thought. His views on the social contract, political obligation, rebellion, revolution and property remain strikingly relevant today.Locke on Government introduces and assesses:* Locke's life and the background to the Second Treatise on Government*The text and ideas of the Second Treatise*The continuing importance of Locke's work to philosophyFor student's coming to Locke for the first time, Locke on Government will be an invaluable guide to his political thought.

A língua, enquanto meio de interação social, participa da realidade humana modificando-se, constituindo novas formas e estruturas linguísticas do ambiente social. Estudos da Sociolinguística evidenciam a variação e as mudanças frequentes nas línguas. A partir desse viés teórico, o presente trabalho objetiva analisar a abordagem dos verbos ‘ter’ e ‘haver’ nas gramáticas normativas e descritivas. Para isto, foram analisadas as abordagens sobre esses verbos nas gramáticas de Rocha Lima (1974), Cunha (1982), Castilho (2010) e Perini (2010). O presente trabalho justifica-se pelo desejo de observar como as mudanças no uso desses verbos se refletiram nos compêndios gramaticais e, consequentemente, no ensino de Língua Portuguesa no Brasil. Dessa forma, a pesquisa caminhará entre os estudos sobre as mudanças linguísticas e a história do ensino de Língua Portuguesa no Brasil entrelaçada à concepção da língua enquanto fenômeno social e heterogêneo. Assim, a partir da realização desta pesquisa, foi possível verificar que, diferentemente das gramáticas normativas, as descritivas retratam as mudanças ocorridas no uso dos verbos ‘ter’  e ‘haver’.

In order to identify the region on distal chromosome 1p that is thought to include one or more tumor suppressor genes for gastric carcinoma, 39 gastric carcinomas were examined for allelic loss using 11 polymorphic microsatellite markers and 1 marker of single strand conformation polymorphism. Loss of heterozygosity (LOH) was found in 18 (46%) of 39 informative patients. The regions with high frequency of loss of heterozygosity were the loci at D1S548 (6/17; 35.3%) and D1S2843 (7/20; 35%), and we found three commonly deleted regions on chromosome 1p35‐pter. The frequency of allelic loss in the region of chromosome 1p35‐pter was significantly associated with advanced‐stage gastric carcinoma, but not with early‐stage tumor or with the histology. These results suggest that allelic loss at chromosome 1p35‐pter may play a role in the progression of gastric carcinoma.