Search results for "MMR"
showing 10 items of 23 documents
A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.
2017
IF 1.590; International audience; Background: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess.Case presentation: We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39 years of age and skin squamous cell carcinoma (SCC)…
An extensive pattern of atypical neural speech-sound discrimination in newborns at risk of dyslexia.
2019
Objective: Identifying early signs of developmental dyslexia, associated with deficient speech-sound processing, is paramount to establish early interventions. We aimed to find early speech-sound processing deficiencies in dyslexia, expecting diminished and atypically lateralized event-related potentials (ERP) and mismatch responses (MMR) in newborns at dyslexia risk. Methods: ERPs were recorded to a pseudoword and its variants (vowel-duration, vowel-identity, and syllable-frequency changes) from 88 newborns at high or no familial risk. The response significance was tested, and group, laterality, and frontality effects were assessed with repeated-measures ANOVA. Results: An early positive a…
Colorectal cancer with microsatellite instability: Right-sided location and signet ring cell histology are associated with nodal metastases, and extr…
2021
Colorectal cancer (CRC) with microsatellite instability (MSI) accounts for 15-18 % of all CRCs and represents the category with the best prognosis. This study aimed at determining any possible clinical/pathological features associated with a higher risk of nodal metastasization in MSI-CRC, and at defining any possible prognostic moderators in this setting. All surgically resected CRCs of the last 20 years (mono-institutional series) with a PCR-based diagnosis of MSI, with and without nodal metastasis, have been retrieved for histological review, which was performed following WHO guidelines. Furthermore, the most important prognostic moderators have been investigated with a survival analysis…
Factors associated with poor adherence to MMR vaccination in parents who follow vaccination schedule.
2014
Due to median vaccination coverage far from elimination level, Italy is still an European country with high number of measles cases per million of people. In this study we explored potential socioeconomic, medical and demographic factors which could influence the propensity of family members for measles vaccination schedule. A cross-sectional study was performed through a questionnaire administered to the parents of children who received the first dose of MMR vaccine in two different vaccination centers in the Palermo area from November 2012 to May 2013. Overall, the role played by internet (OR 19.8 P = 0.001) and the large number of children in a family (OR 7.3 P ≤ 0.001) were the factors …
Knowledge and attitudes of parents after the implementation of mandatory vaccination in kindergartens of Palermo, Italy.
2020
Background and aim of the work: Even though vaccination is easy to access in Europe, it has been facing several outbreaks caused by vaccine preventable diseases. Trying to balance the right to health of the community with individual self-determination, in Italy was mandate vaccination for ten vaccine preventable diseases in 2017. The project “Sportello Vaccinale” provided a counseling service to parents in kindergarten of Palermo. The main objective of the study was to investigate knowledge and compliance on vaccination by children’s parents after the implementation of mandatory vaccination. Methods: A cross sectional study was conducted among parents accessing to the “Sportello Vaccinale” …
Robotic Total Mesometrial Resection versus Laparoscopic Total Mesometrial Resection in Early Cervical Cancer: A Case-Control Study
2016
Abstract Study Objective To report our experience with robotic total mesometrial resection (R-TMMR) comparing perioperative results with a series of laparoscopic total mesometrial resections (L-TMMRs). Design Multicenter retrospective case-control study (Canadian Task Force classification II-2). Setting Catholic University of the Sacred Heart of Rome (Italy) and Campobasso (Italy). Patients From July 2013 to August 2015 all cervical cancer patients with preoperative FIGO stage IA2 to IB1 were assessed at preoperative magnetic resonance imaging scan and clinically confirmed by investigation under anesthesia, complying strictly with the FIGO criteria. Surgical and postsurgical data of the TMM…
Laparoscopic radical hysterectomy in cervical cancer as total mesometrial resection (L-TMMR): A multicentric experience
2015
Abstract Objective To analyze the feasibility of total mesometrial resection by laparoscopy (L-TMMR) in a multicentric series of early stage cervical cancer. Method We prospectively evaluated a consecutive series of cervical cancer patients with pre-operative FIGO stages IA2–IB1 at the Catholic University in Rome and in Campobasso and the Charite University in Berlin. All cases were assessed at pre-operative MRI scan and clinically confirmed by investigation under anesthesia, adhering strictly to the FIGO criteria. The surgical and post-surgical data were collected. Results 104 women with cervical cancer were admitted between July 2013 and August 2014 and among them 71 patients with pre-ope…
Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength
2022
Lynch syndrome (LS) is an inherited genetic condition associated with increased predisposition to colorectal cancer (CRC) and other tumors and is caused by germline mutations in Mismatch Repair (MMR) or EPCAM genes. The identification of LS carriers is currently based on germline testing of subjects with MMR-deficient (dMMR) tumors or fulfilling clinical criteria, but the most efficient strategies to select patients who should be offered genetic testing are yet not well defined. In order to assess the most suitable selection mode to identify LS-related CRC patients, we retrospectively collected and analyzed all clinical and molecular information of 854 CRC patients, recruited from 2013 to 2…
Laparoscopic Total Mesometrial Resection (L-TMMR)
2017
Abdominal radical hysterectomy and pelvic lymph node dis- section as introduced by Wertheim and Meigs [1–2] first in the beginning of the century is still regarded as “gold stan- dard” in the surgical treatment of the uterine cervix carci- noma, FIGO stages IA2-IB and IIA. The resection of the parametrial and paracervical tissues proposed by the conventional radical hysterectomy is based on a “centrifu- gal diffusion” from the center of the tumor on the direction of the parametrial (dorsal, lateral and ventral) highways. This imply a classic functional and ligament-focused view of the surgical anatomy.
Involvement of large rearrangements in MSH6 and PMS2 genes in southern Italian patients with lynch syndrome
2018
Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes. Most of germline mutations are point variants, followed by large rearrangements that account to 15-55% of all pathogenic mutations. Many study reporting the frequency of large rearrangements in the MLH1 and MSH2 genes were performed, while, little is known about the contribution of large rearrangements in other MMR genes, as PMS2 and MSH6. Therefore, in this study we investigated the involvment of large rearrangements in MSH6 and PMS2 genes in a well-characterized series of 20 LS southern Italian patients. Methods: These large rearrangements are not usuall…