The t(II; 22)(pI5.5; qII.23) in a retroperitoneal rhabdoid tumor also includes a regional deletion distal to CRYBB2 on 22q

Translocations and deletions involving chromosomal band 22q 11 are common genetic aberrations in malignant rhabdoid tumors. Previous molecular analyses of a t(11; 22) in the malignant rhabdoid tumor cell line TM87-16 localized the breakpoint distal to BCR on 22q 11. In the present report, we have further refined the map position of this breakpoint between CRYBB2 and D22S258. Moreover, the D22S258, CRYBA4, D22S300, D22SI, and D22S310 loci, which lie between CRYBB2 and D22S42, were found to be deleted, presumably as a result of the translocation event. The identification of this deletion of at least 2 Mb on the long arm of chromosome 22 should be helpful for mapping the gene(s) in the region involved in the development of malignant rhabdoid tumors as well as providing insights into the mechanisms of chromosomal translocation in human solid tumors.     

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy.     

Produktion von 2-Tridecanon durch verschiedene Kultur- und Wildtomatenpflanzen (Lycopersicon spp.)

8 cultivars of the commercial tomato ( LYCOPERSICON ESCULENTUM) and 4 species of wild tomato plants ( L. HIRSUTUM, L. PIMPINELLIFOLIUM, L. GLANDULOSUM, L, PERUVIANUM) were investigated with regard to their production of 2-tridecanone in leaflets, petioles and stems during different stages of development and under different conditions of cultivation. The significance of 2-tridecanone as defence substance against fungal pathogens and pests of LYCOPERSICON spp. is discussed.     

Barriers and Facilitators to Effective Implementation of the NAMWEZA Intervention in Dar es Salaam,Tanzania

Prevention Science - The NAMWEZA intervention was implemented, using a ten-session group format, to build skills targeting psychosocial vulnerabilities and enhancing HIV prevention among people...     

Skin angiography assisted mastectomy in secondary breast angiosarcoma: Complete clinical response after neoadjuvant immunotherapy

Radiation-induced breast angiosarcoma, or secondary angiosarcoma (SAS), is a rare entity with a high risk of metastatic recurrence. Herein, we describe the use of intraoperative fluorescence-based skin angiography to guide surgical resection following a novel immunotherapy-based regimen for SAS resulting in a complete pathological response.     

Schur maps, Young tableaux, and supersymmetric algebra

It is shown that the Hopf algebra dual of a supersymmetric Hopf algebra admits two presentations, and a natural isomorphism between them is described.     

Plethystic algebras and vector symmetric functions

An isomorphism is established between the plethystic Hopf algebra Pleth(Super[L]) and the algebra of vector symmetric functions. The Hall inner product of symmetric function theory is extended to the Hopf algebra Pleth(Super[L]).