Search results for "Retrospective"
showing 10 items of 3553 documents
Etiological factors commonly related to the need of endodontic treatment in individuals with orofacial clefts
2021
Background Dental treatment is fundamental in the rehabilitation of individuals with orofacial clefts, due to their oral condition; when indicated, endodontic therapy allows elimination of infection of the root canal system. Aim: To analyze, by a retrospective study, the most prevalent type of orofacial cleft, the etiological factors most commonly related to the endodontic treatment need, as well as their success and failure rates. Material and methods This study analyzed data from 136 records (76 females and 60 males) with mean age of 19 years and 7 months, who met the inclusion criteria. Data were collected including the type of cleft, etiological factors that led to the need of endodonti…
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
2016
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate the ethical issues of IF with the generalization of new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about the situations they have faced regarding IF from aCGH. Sixty-five IF were reported. Forty corresponded to autosomal dominant diseases with incomplete penetrance, 7 to autosomal dominant diseases with complete penetrance, 14 to X-linked di…
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
2018
Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well…
Window of implantation transcriptomic stratification reveals different endometrial subsignatures associated with live birth and biochemical pregnancy
2017
Objective To refine the endometrial window of implantation (WOI) transcriptomic signature by defining new subsignatures associated to live birth and biochemical pregnancy. Design Retrospective cohort study. Setting University-affiliated in vitro fertilization clinic and reproductive genetics laboratory. Patient(s) Healthy fertile oocyte donors (n = 79) and patients with infertility diagnosed by Endometrial Receptivity Analysis (n = 771). Intervention(s) None. Main Outcome Measure(s) WOI transcriptomic signatures associated with specific reproductive outcomes. Result(s) The retrospective cohort study was designed to perform a prediction model based on transcriptomic clusters for endometrial …
Sunitinib in patients with pre-treated pancreatic neuroendocrine tumors: A real-world study.
2018
Abstract Introduction Besides data reported in a Phase-III trial, data on sunitinib in pancreatic Neuroendocrine Tumors (panNETs) are scanty. Aim To evaluate sunitinib efficacy and tolerability in panNETs patients treated in a real-world setting. Patients and methods Retrospective analysis of progressive panNETs treated with sunitinib. Efficacy was assessed by evaluating progression-free survival, overall survival, and disease control (DC) rate (stable disease (SD) + partial response + complete response). Data are reported as median (25th–75th IQR). Results Eighty patients were included. Overall, 71.1% had NET G2, 26.3% had NET G1, and 2.6% had NET G3 neoplasms. A total of 53 patients (66.3…
Uterine disorders affecting female fertility: what are the molecular functions altered in endometrium?
2020
[EN]: Objective:To determine the molecular functions of genes exhibiting altered expression in the endometrium of women with uterine disorders affecting fertility. Design: Retrospective analysis integrating case and control data from multiple cohorts with endometrium gene expression in women with uterine disorders. Setting: Infertility research department affiliated with a university hospital. Patient(s): Two hundred and forty women, 121 of whom were controls, 119 of whom had endometrial adenocarcinoma (ADC), recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or stage II–IV endometriosis. Intervention(s): None. Main Outcome Measure(s): Genomewide gene expression and alter…
Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy.
2018
In this work we reviewed 18 years of experience using fluorescence in situ hybridization (FISH) for sperm aneuploidy testing. We evaluated parameters associated with increased numerical sperm chromosome abnormalities and determined the male contribution to embryo aneploidies in terms of reproductive outcome by increased sperm aneuploidy. This retrospective study analyzed data from 2008 sperm samples of infertile males undergoing FISH analysis because of clinical history of repetitive implantation failure, recurrent miscarriage, impaired sperm parameters, or mixed causes. Sperm concentration was the only sperm parameter associated with FISH results—we observed a gradual increase of abnormal …
Co-circulation of the two influenza B lineages during 13 consecutive influenza surveillance seasons in Italy, 2004-2017
2019
AbstractBackgroundSince 1985, two antigenically distinct lineages of influenza B viruses (Victoria-like and Yamagata-like) have circulated globally. Trivalent seasonal influenza vaccines contain two circulating influenza A strains but a single B strain and thus provide limited immunity against circulating B strains of the lineage not included in the vaccine. In this study, we describe the characteristics of influenza B viruses that caused respiratory illness in the population in Italy over 13 consecutive seasons of virological surveillance, and the match between the predominant influenza B lineage and the vaccine B lineage, in each season.MethodsFrom 2004 to 2017, 26,886 laboratory-confirme…
CD1A-positive cells and HSP60 (HSPD1) levels in keratoacanthoma and squamous cell carcinoma.
2015
CD1a is involved in presentation to the immune system of lipid antigen derived from tumor cells with subsequent T cell activation. Hsp60 is a molecular chaperone implicated in carcinogenesis by, for instance, modulating the immune reaction against the tumor. We have previously postulated a synergism between CD1a and Hsp60 as a key factor in the activation of an effective antitumor immune response in squamous epithelia. Keratoacantomas (KAs) are benign tumors that however can transform into squamous cell carcinomas (SCCs), but the reasons for this malignization are unknown. In a previous study, we found that CD1a-positive cells are significantly more numerous in KA than in SCC. In this study…
Risk factors for anastomotic leakage after colorectal resection in ovarian cancer surgery: A multi-centre study.
2019
Objective. To determine pre-/intraoperative risk factors for anastomotic leak after modified posterior pelvic exenteration (MPE) or colorectal resection in ovarian cancer and to create a practical instrument for predicting anastomotic leak risk. Background. In advanced ovarian cancer surgery, there is rather limited published evidence, drawn from a small sample, providing information about risk factors for anastomotic leak. Methods. Eight hospitals participated in this retrospective study. Data on 695 patients operated for ovarian cancer with primary anastomosis were included (January 2010-June 2018). Twelve pre-/intraoperative variables were analysed as potential independent risk factors f…