1,720,975 research outputs found
Expression analysis of androgen-responsive genes in the prostate of veal calves treated with anabolic hormones
No full textIn order to identify indirect molecular biomarkers of anabolic treatments in veal calves, an animal experiment was performed using two combinations of growth promoters (consisting of boldenone undecylenate and estradiol benzoate, and of testosterone enantate and estradiol benzoate). We selected a set of 12 genes that are known to be androgen responsive in other mammalian species. The expression profile of this set of genes was analysed on prostate samples of veal calves using a real-time RTPCR approach. For each selected gene the corresponding bovine sequence was obtained and a gene specific real-time assay was optimised and validated. The amplification was shown to be highly specific, linear and efficient. High reproducibility (< 1%) and low-test variability (< 2.5%) were also been achieved. Messenger RNA levels were quantified in prostate samples, non-parametric analysis of variance showed significant up-regulation of three genes (MAF, ESR1 and AR) and significant down-regulation of four genes (HMGCS 1, HPGD, DBI, and LIM) in treated samples when compared with untreated controls. To assess the possibility of identifying hormone-treated animals by molecular means we performed a discriminant analysis that was effective in classifying treated and non-treated samples with an accuracy of 93%. Our results indicate that identification of treatment with steroid hormones in veal calves by means of gene expression analysis is a feasible approach and could be improved increasing both the number of genes and the number of controls analysed
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family
No full textL1P_MA2 is a primate-specific subfamily of L1 retrotransposons. The consensus sequence of this element differs from the canonical L1 consensus by the presence of a 3800-bp region in 5' (L1M1_J). Part of this region has been proposed to be involved in a dystrophin mutation affecting the correct splicing of the gene and causing an X-linked dilated cardiomyopathy. In consideration of the potential involvement in splicing regulation of this element and also because of its atypical structure, we investigated its evolutionary history by analyzing the inter- and intraspecific divergence of L1P_MA2 sequences in various species of primates. The resulting phylogenetic trees show long terminal branches and short basal internodes, as expected for a rapid event of diversification that occurred in the past. The phylogenetic analysis and the intraspecific divergence estimates revealed a pattern of evolution for this element similar in all primates with the exception of lemurs, thus suggesting that the major wave of expansion of L1P_MA2 in primate genomes occurred after the divergence between Prosimiae and Anthropoidea. These results clearly indicate that a phylogenetic approach is more appropriate than methods based on sequence data from a single species, when investigating time and mode of evolution of retro-elements
Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases
Full text linkTo report the exceptional occurrence of ossifying fibromyxoid tumour (OFMT) as a primary bone lesion. OFMT is a rare soft tissue tumour of uncertain differentiation and variable malignant potential, that occurs in adults with a slight male predominance. It is typically located in the subcutis or in the skeletal muscles of the extremities, followed by trunk or head and neck
Case report: pseudoendocrine sarcoma, a clinicopathologic report of a newly described soft tissue neoplasm
No full text: Papke et al. recently reported a series of twenty-three soft tissue lesions chiefly arising in older adults featuring distinct morphological and genetic characteristics. Pseudoendocrine sarcoma (PS) is the somewhat descriptive and provisional term adopted for the newly reported mesenchymal neoplasm. Since the publication of the original paper published in January 2022, a single case of PS has been published. Pseudoendocrine sarcoma shows a predilection for the paravertebral deep soft tissues of the trunk, low-grade neuroendocrine-like histological features, and hallmark CTNNB1 activating mutations.Herein, we will discuss a case of a 72-year-old woman presenting with a 4-cm laterocervical mass. Hematoxylin and eosin slides showed a multilobular proliferation of monomorphic epithelioid cells with speckled chromatin arranged in nests and trabeculae. Immunohistochemical staining and molecular analysis were consistent with the newly proposed entity
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Clear cell sarcoma-like/malignant gastrointestinal neuroectodermal tumor of the tongue: a clinicopathologic and molecular case report
No full textMalignant gastrointestinal neuroectodermal tumor (M-GNET) and clear cell sarcoma (CCS) of soft tissue represent closely related, extremely rare, malignant mesenchymal neoplasm of uncertain differentiation. Both entities are characterized genetically by the same molecular alterations represented by the presence of EWSR1-ATF1 and, more rarely, EWSR1-CREB1 fusion genes. The latter translocation seems to be more represented in M-GNET that, despite significant morphologic overlap with CCS, tends to lack overt features of melanocytic differentiation. Most M-GNET occur in the lower gastrointestinal tract, whereas occurrence in the upper tract has been reported only exceptionally. The differential diagnosis represents a major challenge, and accurate diagnosis impact significantly on therapeutic planning. We herein report the clinicopathologic features of a molecularly confirmed M-GNET that arose at the base of the tongue and review the pertinent literature
Audiological Phenotype of patients showing connexin 26/30 related deafness in a cohort including 628 patients.
No full textMutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessive non-syndromic deafness. A 342-kb deletion truncating the GJB6 gene has been associated with autosomal recessive non-syndromic deafness, mostly as digenic inheritance of the Cx30 deletion/Cx26 mutation. The following retrospective study describes audiological features and genotypes of a large cohort of 628 hearing impaired patients who underwent genetic screening for the GJB2/GJB6 genes and received follow-up care at our centre between January 2002 and July 2008. Mutations in GJB2/GJB6 genes were found in over than 30% of cases. Twenty-seven different genotypes causing deafness in more than 25% of patients with either biallelic mutations or digenic inheritance GJB2/GJB6 were identified. The most frequent mutations of the GJB2 were 35delG, L90P, M34T, delE120 and R184P. The 342-kb deletion del(GJB6-D13S1830) was also quite frequent. In more than 14% of cases the cause of deafness was the homozygosis for the most common mutation among European people the 35delG. Although more than 70% of patients with biallelic/digenic inheritance of the Cx30 deletion/Cx26 mutation exhibit a severe to profound hearing loss, mild and moderate impairment were also found. Other clinical data such as course and degree of bilateral involvement were analysed too
Analysis of 22 deletion breakpoints in dystrophin intron 49
No full textOver 60% of Duchenne and Becker muscular dystrophies are caused by deletions spanning tens or hundreds of kilobases in the dystrophin gene. The molecular mechanisms underlying the loss of DNA at this genomic locus are not yet understood. By studying the distribution of deletion breakpoints at the genomic level, we have previously shown that intron 49 exhibits a higher relative density of breakpoints than most dystrophin introns. To determine whether the mechanisms leading to deletions in this intron preferentially involve specific sequence elements, we sublocalized 22 deletion endpoints along its length by a polymerase-chain-reaction-based approach and, in particular, analyzed the nucleotide sequences of five deletion junctions. Deletion breakpoints were homogeneously distributed throughout the intron length, and no extensive homology was observed between the sequences adjacent to each breakpoint. However, a short sequence able to curve the DNA molecule was found at or near three breakpoint junctions
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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