Cross-cultural adaptation and validation of the “spinal cord injury-falls concern scale” in the Italian population

Study design: Psychometrics study. Objective: The objective of this study was to develop an Italian version of the Spinal Cord Injury-Falls Concern Scale (SCI-FCS) and examine its reliability and validity. Setting: Multicenter study in spinal units in Northern and Southern Italy. The scale also was administered to non-hospitalized outpatient clinic patients. Methods: The original scale was translated from English to Italian using the “Translation and Cultural Adaptation of Patient-Reported Outcomes Measures” guidelines. The reliability and validity of the culturally adapted scale were assessed following the “Consensus-Based Standards for the Selection of Health Status Measurement Instruments” checklist. The SCI-FCS-I internal consistency, inter-rater, and intra-rater reliability were examined using Cronbach’s alpha coefficient and the intraclass correlation coefficient, respectively. Concurrent validity was evaluated using Pearson’s correlation coefficient with the Italian version of the short form of the Wheelchair Use Confidence Scale for Manual Wheelchair Users (WheelCon-M-I-short form). Results: The Italian version of the SCI-FCS-I was administered to 124 participants from 1 June to 30 September 2017. The mean ± SD of the SCI-FCS-I score was 16.73 ± 5.88. All SCI-FCS items were either identical or similar in meaning to the original version’s items. Cronbach’s α was 0.827 (p < 0.01), the inter-rater reliability was 0.972 (p < 0.01), and the intra-rater reliability was 0.973 (p < 0.01). Pearson’s correlation coefficient of the SCI-FCS-I scores with the WheelCon-M-I-short form was 0.56 (p < 0.01). Conclusions: The SCI-FCS-I was found to be reliable and a valid outcome measure for assessing manual wheelchair concerns about falling in the Italian population

Complications after Laparoscopic Appendectomy for Complicated Appendicitis

Background.&nbsp;Laparoscopic appendectomy is established method in the treatment of complicated appendicitis. Certain advantages of the technique do not fulfill the expectations for its superiority over the open appendectomy as when it is used for uncomplicated appendicitis. This is generally caused because of the high variety of postoperative complications reported in different series for complicated appendicitis.&nbsp;Material and methods.&nbsp;This prospective interventional clinical study analyzes 61&nbsp;patients operated with laparoscopic and open appendectomy due to complicated appendicitis, with an end point of comparing the intra and postoperative complications in both groups.&nbsp;Results.&nbsp;Conversion in open appendectomy was forced in one patient (1.63%). The operative time was significantly shorter in the laparoscopic group (p&nbsp;=&nbsp;0.048). Wound infection was significantly predominant in the open group (p&nbsp;=&nbsp;0.045). Postoperative intraabdominal abscess occurred in one patient in the laparoscopic group (p&nbsp;=&nbsp;0.52). The overall morbidity was 26.2% (7&nbsp;patients in the laparoscopic, and 9 in the open group; p&nbsp;=&nbsp;0.59). Length of stay was significantly shorter in the laparoscopic group (p&nbsp;=&nbsp;0.00001).&nbsp;Conclusion.&nbsp;Certain significant advantages of the laparoscopic appendectomy as low incidence of wound infection, short hospitalization, less postoperative pain and faster socialization makes the laparoscopy up to date method in the treatment of complicated appendicitis

The birth of a human-specific neural gene by incomplete duplication and gene fusion

Background: Gene innovation by duplication is a fundamental evolutionary process but is difficult to study in humans due to the large size, high sequence identity, and mosaic nature of segmental duplication blocks. The human-specific gene hydrocephalus-inducing 2, HYDIN2, was generated by a 364 kbp duplication of 79 internal exons of the large ciliary gene HYDIN from chromosome 16q22.2 to chromosome 1q21.1. Because the HYDIN2 locus lacks the ancestral promoter and seven terminal exons of the progenitor gene, we sought to characterize transcription at this locus by coupling reverse transcription polymerase chain reaction and long-read sequencing. Results: 5' RACE indicates a transcription start site for HYDIN2 outside of the duplication and we observe fusion transcripts spanning both the 5' and 3' breakpoints. We observe extensive splicing diversity leading to the formation of altered open reading frames (ORFs) that appear to be under relaxed selection. We show that HYDIN2 adopted a new promoter that drives an altered pattern of expression, with highest levels in neural tissues. We estimate that the HYDIN duplication occurred ~3.2 million years ago and find that it is nearly fixed (99.9%) for diploid copy number in contemporary humans. Examination of 73 chromosome 1q21 rearrangement patients reveals that HYDIN2 is deleted or duplicated in most cases. Conclusions: Together, these data support a model of rapid gene innovation by fusion of incomplete segmental duplications, altered tissue expression, and potential subfunctionalization or neofunctionalization of HYDIN2 early in the evolution of the Homo lineage

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease

Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript

Since the discovery of chromosomal inversions almost 100 years ago, how they are maintained in natural populations has been a highly debated issue. One of the hypotheses is that inversion breakpoints could affect genes and modify gene expression levels, although evidence of this came only from laboratory mutants. In humans, a few inversions have been shown to associate with expression differences, but in all cases the molecular causes have remained elusive. Here, we have carried out a complete characterization of a new human polymorphic inversion and determined that it is specific to East Asian populations. In addition, we demonstrate that it disrupts the ZNF257 gene and, through the translocation of the first exon and regulatory sequences, creates a previously nonexistent fusion transcript, which together are associated to expression changes in several other genes. Finally, we investigate the potential evolutionary and phenotypic consequences of the inversion, and suggest that it is probably deleterious. This is therefore the first example of a natural polymorphic inversion that has position effects and creates a new chimeric gene, contributing to answer an old question in evolutionary biology

Os sertões de Euclides da Cunha e a engenharia espetacular do Teat(r)o oficina de José Celso Martinez Corrêa

Exportado OPUSMade available in DSpace on 2019-08-10T11:49:58Z (GMT). No. of bitstreams: 1 dissertacao_definitiva_winpdf.pdf: 5537924 bytes, checksum: 5ae43cea53da931ffb319ebae512bb54 (MD5) Previous issue date: 10A presente pesquisa procurou desenvolver uma reflexão sobre a leitura que José Celso Martinez Corrêa fez da personagem Euclides da Cunha e de sua obra Os sertões, criando, assim, uma segunda obra. A peça é dividida em cinco partes A Terra, O Homem I, O Homem II, A Lutas I e A Luta II - cada uma sendo apresentada em um dia, podendo ser vista e analisada como um texto espetacular à parte ou como parte integrada à montagem maior, ou seja, Os sertões do Teatro Oficina. Nesse sentido, o texto dramatúrgico/espetacular de José Celso é analisado como uma leitura/concepção de Os Sertões de Euclides da Cunha, porém situado num contexto pós-moderno, que reproduz, por sua vez, todas as suas contradições e particularidades: as linguagens utilizadas são múltiplas e as fronteiras entre poesia, história e ficção são tênues, quase imperceptíveis. Em ambas as obras não há separação entre arte/vida de seus a(u)tores, elas se completam e criam um efeito de arte como experiência a ser multiplicad

Molecular on situ hybridization analysis of sheep and goat Bac clones identifies the transcriptional orientation pf T cell receptor gamma genes on chromosome 4 in bovids

The T-cell receptor gamma chain combines with the T-cell receptor delta chain to form the heterodimer gamma/delta complex. In human and mouse, gamma/delta T cells amount to less than 5% of the peripheral blood T lymphocytes (‘gamma/delta low species’), whereas in chicken and artiodactyls, gamma/delta T cells amount to about half of the peripheral blood T cells (‘gamma/delta high species’). Recent studies in bovids have revealed the existence of two paralogous loci TRG1 and TRG2. TRG1 is located on 4q31, within a region of homology with human TRG locus on chromosome 7; while TRG2, localized on 4q15–22, appears to be unique to these ruminant animals. The entire TRG2 locus is composed of three recombinational units (cassette) named TRG6, TRG2 and TRG4 according to TRGC genes. All TRG cassettes lie in the same transcriptional orientation and are closely spaced. In each ‘V, J, C’ unit, Variable and Joining genes rearrange to be found together spliced to the relevant Constant in mature transcripts. Here, we report the cytological mapping of TRG2 locus on sheep 4q22 unique chromosome band and on homologous chromosome bands of cattle, goat and river buffalo. Moreover molecular characterization of 5' boundaries of sheep TRG2 locus and dual-colour FISH results allowed us to identify the physical order of the tightly linked TRG2 and HGF loci markers along the chromosome and establish the transcriptional orientation towards the centromere of Variable (V), Joining (J) and Constant (C) TRG2 gene segments on 4q22 band