1,076 research outputs found

    Beliefs and attitudes among Italian high school students toward people with severe mental disorders

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    The negative attitudes surrounding mental disorders and their treatment are a major obstacle to the correct identification and treatment of emerging psychopathologies. The purpose of this study was to investigate mental health literacy in a large and representative sample of high school students in Italy, via a booklet containing several questionnaires delivered to 1032 teenagers. The items in the questionnaires probed knowledge about mental health and illness, stigmatization, stereotypes, behaviors, opinions, and attitudes. In general, the students had a reasonable knowledge of mental disorders and were able to distinguish these from somatic disorders. However, a large portion of the students nourished some misconceptions about mental disorders and was also rather skeptical about the effectiveness of treatment or the chance of recovery for people with severe mental disorders. Nevertheless, roughly half of the students reported being willing to provide help to someone with a mental disorder when in need. Poor mental health literacy is a major barrier to seeking help and receiving effective treatment. Young people are the ideal target of raising awareness and antistigma campaigns because they are at a higher risk for developing a psychopathology

    Vaginal Evisceration of Small Bowel With Extraperitoneal Ileal Resection of the Herniated Loops: A Case Report

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    Introduction: Vaginal evisceration is an extremely rare surgical emergency that can be described as the extrusion of abdominal viscera through a defect or a rupture of the vaginal wall. We reported the case of an acute abdomen due to small bowel evisceration secondary to vaginal vault dehiscence that required combined vaginal-abdominal approach Case: We discuss the case of a 72-year-old female who presented to the emergency department for a large prolapse with visible extrusion of the small bowel per vagina. The eviscerated bowel was resected by external vaginal approach due to excessive swelling of the loops which made it impossible to reduce them through the vagina defect. A midline laparotomy was undertaken for further assessment, and the vault defect was closed by transabdominal repair Conclusion: From its first description in 1864, just a few cases of vaginal evisceration had been described in the medical literature; the most common organ to eviscerate is the distal ileum, although cases of omentum, colon, fallopian tube, and appendix evisceration have also been reported. We described a rare case of transvaginal evisceration of the small bowel in our emergency department; it is a rare surgical emergency that must be managed to prevent serious consequences, such as bowel ischemia and necrosis, sepsis, and death. We suggest that a multidisciplinary approach to prompt examination and management by gynecologists and general surgeons is recommended to reduce the risk of morbidity and mortality. With this paper the authors would like to share the surgical manage of this rare emergency with other surgeons all around the world

    Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report

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    Abstract Microglandular adenosis (MGA) of the breast is a benign lesion that may mimic invasive carcinoma and which has been proposed to be a potential precursor of a well defined subset of triple-negative and basal-like breast carcinomas, characterized by specific expression of both basal and luminal markers (positive for EGFr and luminal cytokeratins such as CK 8/18, negative for high molecular weight cytokeratins such as CK 5/6), with a crucial role played by p53 mutation as "driver mutation" in the multistep model of cancerization. When an invasive carcinoma arises in a background of MGA, it is possible to identify a clear multistep transition from conventional MGA to atypical MGA (AMGA), Ductal Carcinoma In Situ (DCIS) arising within AMGA and invasive carcinoma. This is the first histological case report of an invasive carcinoma arising within MGA and AMGA in a patient carrying a germline BRCA-1 mutation, recognized as one of the most important genetic alterations correlated with the development of triple-negative carcinoma

    A rare case of acute abdomen in the adult: The intestinal duplication cyst. case report and review of the literature

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    Introduction: Duplications of the gastrointestinal tract are rare congenital anomalies that can occur anywhere throughout the gastrointestinal tract. The reported incidence is 1/4500, and more than 80% occurs before the age of two as an acute abdomen or bowel obstruction. The most common site is Ileum (60%), while the colonic localisation is reported between 4 and 18%. Presentation of the case: Herein we report the case of a 35-year-old man, presented at the Emergency Department with fever and localised abdominal pain in the right iliac fossa. Preoperative abdominal ultrasound and CT scan showed a cystic mass of 44 × 43 × 70 mm adjoining the posterior wall of the right colon. He underwent explorative laparoscopy, laparotomy conversion, right hemicolectomy with an intra-operative diagnosis of colonic duplication cyst, confirmed by histology. Discussion: The review of the literature showed as the intestinal duplication cysts are rare congenital anomalies. The clinical presentation is variable and depends on the site and the related complications. A surgical approach based on the resection of the involved bowel tract is the treatment associated with the best long-term outcomes. Conclusion: It is important to include intestinal duplication in the differential diagnosis of acute abdomen, to ensure the best therapeutic strategy

    Browsing Isolated Population Data

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    BACKGROUND: In our studies of genetically isolated populations in a remote mountain area in the center of Sardinia (Italy), we found that 80–85% of the inhabitants of each village belong to a single huge pedigree with families strictly connected to each other through hundreds of loops. Moreover, intermarriages between villages join pedigrees of different villages through links that make family trees even more complicated. Unfortunately, none of the commonly used pedigree drawing tools are able to draw the complete pedigree, whereas it is commonly accepted that the visual representation of families is very important as it helps researchers in identifying clusters of inherited traits and genotypes. We had a representation issue that compels researchers to work with subsets extracted from the overall genealogy, causing a serious loss of information on familiar relationships. To visually explore such complex pedigrees, we developed PedNavigator, a browser for genealogical databases properly suited for genetic studies. RESULTS: The PedNavigator is useful for genealogical research due to its capacity to represent family relations between persons and to make a visual verification of the links during family history reconstruction. As for genetic studies, it is helpful to follow propagation of a specific set of genetic markers (haplotype), or to select people for linkage analysis, showing relations between various branch of a family tree of affected subjects. AVAILABILITY: PedNavigator is an application integrated into a Framework designed to handle data for human genetic studies based on the Oracle platform. To allow the use of PedNavigator also to people not owning the same required informatics infrastructure or systems, we developed PedNavigator Lite with mainly the same features of the integrated one, based on MySQL database server. This version is free for academic users, and it is available for download from our sit

    Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations

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    Background. A multiplicity of study designs such as gene candidate analysis, genome wide search (GWS) and, recently, whole genome association studies have been employed for the identification of the genetic components of essential hypertension (EH). Several genome-wide linkage studies of EH and blood pressure-related phenotypes demonstrate that there is no single locus with a major effect while several genomic regions likely to contain EH-susceptibility loci were validated by multiple studies. Methods. We carried out the clinical assessment of the entire adult population in a Sardinian village (Talana) and we analyzed 16 selected families with 62 hypertensive subjects out of 267 individuals. We carried out a double GWS using a set of 902 uniformly spaced microsatellites and a high-density SNPs map on the same group of families. Results. Three loci were identified by both microsatellites and SNP scans and the obtained linkage results showed a remarkable degree of similarity. These loci were identified on chromosome 2q24, 11q23.1–25 and 13q14.11–21.33. Further support to these findings is their broad description present in literature associated to EH or related phenotypes. Bioinformatic investigation of these loci shows several potential EH candidate genes, several of whom already associated to blood pressure regulation pathways. Conclusion. Our search for major susceptibility EH genetic factors evidences that EH in the genetic isolate of Talana is due to the contribution of several genes contained in loci identified and replicated by earlier findings in different human populations

    Evolving knowledge in surgical oncology of pancreatic cancer: from theory to clinical practice-a fifteen-year journey at a tertiary referral centre

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    Pancreatic ductal adenocarcinoma (PDAC) is an increasing disease having a poor prognosis. The aim of the present study was to evaluate the effect of different models of care for pancreatic cancer in a tertiary referral centre in the period 2006-2020. Retrospective study of patients with PDAC observed from January 2006 to December 2020. The demographic and clinical data, and data regarding the imaging techniques used, preoperative staging, management, survival and multidisciplinary tumour board (MDTB) evaluation were collected and compared in three different periods characterised by different organisation of pancreatic cancer services: period A (2006-2010); period B (2011-2015) and period C (2016-2020). One thousand four hundred seven patients were analysed: 441(31.3%) in period A; 413 (29.4%) in B and 553 (39.3%) in C. The proportion of patients increased significantly, from 31.3% to 39.3% (P = 0.032). Body mass index (P = 0.033), comorbidity rate (P = 0.002) and Karnofsky performance status (P < 0.001) showed significant differences. Computed tomography scans (P < 0.001), endoscopic ultrasound (P < 0.001), fine needle aspiration, fine needle biopsy (P < 0.001), and fluorodeoxyglucose-positron emission tomography/computed tomography (P < 0.001) increased; contrast-enhanced ultrasound (P = 0.028) decreased. The cTNM was significantly different (P < 0.001). The MDTB evaluation increased significantly (P < 0.001). Up-front surgery and exploratory laparotomy decreased (P < 0.001), neoadjuvant treatment increased (P < 0.001). The present study showed the evolving knowledge in surgical oncology of pancreatic cancer at a tertiary referral centre over the time. The different models of care of pancreatic cancer, in particular the introduction of the MDTB and the institution of a pancreas unit to the decision-making process seemed to be influential

    Years of life that could be saved from prevention of hepatocellular carcinoma

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    BACKGROUND: Hepatocellular carcinoma (HCC) causes premature death and loss of life expectancy worldwide. Its primary and secondary prevention can result in a significant number of years of life saved. AIM: To assess how many years of life are lost after HCC diagnosis. METHODS: Data from 5346 patients with first HCC diagnosis were used to estimate lifespan and number of years of life lost after tumour onset, using a semi-parametric extrapolation having as reference an age-, sex- and year-of-onset-matched population derived from national life tables. RESULTS: Between 1986 and 2014, HCC lead to an average of 11.5 years-of-life lost for each patient. The youngest age-quartile group (18-61 years) had the highest number of years-of-life lost, representing approximately 41% of the overall benefit obtainable from prevention. Advancements in HCC management have progressively reduced the number of years-of-life lost from 12.6 years in 1986-1999, to 10.7 in 2000-2006 and 7.4 years in 2007-2014. Currently, an HCC diagnosis when a single tumour <2 cm results in 3.7 years-of-life lost while the diagnosis when a single tumour 65 2 cm or 2/3 nodules still within the Milan criteria, results in 5.0 years-of-life lost, representing the loss of only approximately 5.5% and 7.2%, respectively, of the entire lifespan from birth. CONCLUSIONS: Hepatocellular carcinoma occurrence results in the loss of a considerable number of years-of-life, especially for younger patients. In recent years, the increased possibility of effectively treating this tumour has improved life expectancy, thus reducing years-of-life lost

    Pancreatic Ductal Adenocarcinoma Associated with Autoimmune Pancreatitis

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    Autoimmune pancreatitis (AIP), in contrast to other benign chronic pancreatic diseases, can be cured with immunosuppressant drugs, thus the differentiation of AIP from pancreatic cancer is of particular interest in clinical practice. There is the possibility that some patients with AIP may develop pancreatic cancer, and this possibility contributes to increasing our difficulties in differentiating AIP from pancreatic cancer. We herein report the case of a 70-year-old man in whom pancreatic adenocarcinoma and AIP were detected simultaneously. We must carefully monitor AIP patients for the simultaneous presence of pancreatic cancer, even when a diagnosis of AIP is confirmed

    A New Genetic Risk Score to Predict the Outcome of Locally Advanced or Metastatic Breast Cancer Patients Treated With First-Line Exemestane: Results From a Prospective Study

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    Currently there are no reliable biomarkers to predict outcome of exemestane treatment. We designed a prospective study to investigate whether constitutive genetic background might affect response to therapy. In a population of 302 advanced breast cancer patients treated with exemestane we showed that a 5-polymorphism-based genetic score could be used to identify patients with different risks of progression and death.Introduction: Approximately 50% of locally advanced or metastatic breast cancer (MBC) patients treated with first-line exemestane do not show objective response and currently there are no reliable biomarkers to predict the outcome of patients using this therapy. The constitutive genetic background might be responsible for differences in the outcome of exemestane-treated patients. We designed a prospective study to investigate the role of germ line polymorphisms as biomarkers of survival. Patients and Methods: Three hundred two locally advanced or MBC patients treated with first-line exemestane were genotyped for 74 germ line polymorphisms in 39 candidate genes involved in drug activity, hormone balance, DNA replication and repair, and cell signaling pathways. Associations with progression-free survival (PFS) and overall survival (OS) were tested with multivariate Cox regression. Bootstrap resampling was used as an internal assessment of results reproducibility. Results: Cytochrome P450 19A1-rs10046TC/CC, solute carrier organic anion transporter 1B1-rs4149056TT, adenosine triphosphate binding cassette subfamily G member 2-rs2046134GG, fibroblast growth factor receptor-4-rs351855TT, and X-ray repair cross complementing 3-rs861539TT were significantly associated with PFS and then combined into a risk score (0-1, 2, 3, or 4-6 risk points). Patients with the highest risk score (4-6 risk points) compared with ones with the lowest score (0-1 risk points) had a median PFS of 10 months versus 26.3 months (adjusted hazard ratio [AdjHR], 3.12 [95% confidence interval (CI), 2.18-4.48]; P < .001) and a median OS of 38.9 months versus 63.0 months (AdjHR, 2.41 [95% CI, 1.22-4.79], P = .012), respectively. Conclusion: In this study we defined a score including 5 polymorphisms to stratify patients for PFS and OS. This score, if validated, might be translated to personalize locally advanced or MBC patient treatment and management
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