Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.

Background: The 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders.

Unique Functional Neuroimaging Signatures of Genetic Versus Clinical High Risk for Psychosis.

Background: 22q11.2 deletion syndrome (22qDel) is a copy number variant that is associated with psychosis and other neurodevelopmental disorders. Adolescents who are at clinical high risk for psychosis (CHR) are identified based on the presence of subthreshold psychosis symptoms.

Selective Gastrectomy with Knowledge of Gastric Anatomy and Blood Supply are Key to Complete Tumour Removal in Advanced Pseudomyxoma: Single-Centre Experience with 120 Gastrectomies Over 20 Years.

Background: The role of gastrectomy to achieve complete cytoreduction (CCR) for pseudomyxoma peritonei (PMP) is controversial due to uncertain risk/benefit ratio. The outcomes of patients who gastrectomy over a twenty-year period in a high-volume unit are reported.

Methods: All patients requiring gastrectomy to achieve CCR for appendiceal PMP between 2000 and 2020 were reviewed.

Salivary α-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.

Background: 22q11.2 deletion syndrome (22q11.2DS) has been linked to an increased risk of early-onset Parkinson's disease.

Occult appendix pathology in patients undergoing colorectal cancer resection and prophylactic appendectomy.

Background: The risk-benefit balance of prophylactic appendectomy in patients undergoing left colorectal cancer resection is unclear. The aim of this report is to assess the proportion of histologically abnormal appendices in patients undergoing colorectal cancer resection in a unit where standard of care is appendectomy, with consent, when left-sided resection is performed.

Methods: A retrospective study on a prospectively collected database was conducted in a single tertiary-care center.

MRI-predicted extramural vascular invasion and tumour deposit are main predictors of disease-free survival in patients undergoing surgical resection for rectal cancer.

Background: MRI is crucial in staging patients with rectal cancer and planning treatment. The aim was to analyse the prognostic role of MRI-predicted tumour deposits and/or extramural vascular invasion (mrTD/EMVI) in a cohort of patients with rectal cancer undergoing surgical resection, with selective neoadjuvant chemoradiotherapy (nCRT).

Method: Retrospective analysis of a single-centre cohort of consecutive patients with rectal cancer undergoing low anterior resection or abdominoperineal excision between 2008 and 2020.

Pseudomyxoma Peritonei Arising from Urachal Mucinous Neoplasms: a Case Series and Updated Literature Review.

Unlabelled: To report a case series of patients with pseudomyxoma peritonei (PMP) from urachal mucinous neoplasm (UMN) treated with CRS and HIPEC at a high-volume referral centre, along with an updated literature review. Retrospective review of cases treated between 2000 and 2021. A literature review using MEDLINE and Google Scholar databases was performed.

Social cognition and real-life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis, compared to a large sample of patients with schizophrenia only and healthy controls.

Patients with the 22q11.2 deletion syndrome (DS) show an increased risk of developing a psychotic illness lifetime. 22q11.

Is All-on-four effective in case of partial mandibular resection? A 3D finite element study.

Introduction: The aim of the work is to analyze stress distribution on 3D Finite Element (FE) models at bone, implant, and framework level of different designs for fixed implant-supported prostheses in completely edentulous patients, comparing results on whole and partially resected mandibles.

Materials And Methods: 3D anisotropic FE models of a whole and of a partially resected mandible were created using a TC scan of a cadaver's totally edentulous mandible. Two types of totally implant-supported rehabilitation were simulated, with four implants: parallel fixtures on whole mandible and on resected mandible, All-on-four-configured fixtures on whole mandible and on partially resected mandible.

Similar grey matter abnormalities in 22q11.2DS and chronic schizophrenia: a voxel-based morphometry study.

Background: The 22q11.2 Deletion Syndrome (22q11.2DS) is considered the most reliable biological model to study genetic vulnerability to schizophrenia.

Does social cognition change? Evidence after 4 years from the Italian Network for Research on Psychoses.

Background: Deficits in social cognition (SC) are significantly related to community functioning in schizophrenia (SZ). Few studies investigated longitudinal changes in SC and its impact on recovery. In the present study, we aimed: (a) to estimate the magnitude and clinical significance of SC change in outpatients with stable SZ who were assessed at baseline and after 4 years, (b) to identify predictors of reliable and clinically significant change (RCSC), and (c) to determine whether changes in SC over 4 years predicted patient recovery at follow-up.

Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.

The phenotypic expression of 22q11.2 deletion syndrome (22q11.2DS) is variable and may include cognitive, psychiatric, and neurological manifestations, e.

Clinical and psychological factors associated with resilience in patients with schizophrenia: data from the Italian network for research on psychoses using machine learning.

Background: Resilience is defined as the ability to modify thoughts to cope with stressful events. Patients with schizophrenia (SCZ) having higher resilience (HR) levels show less severe symptoms and better real-life functioning. However, the clinical factors contributing to determine resilience levels in patients remain unclear.

Adaptive Individualized high-dose preoperAtive (AIDA) chemoradiation in high-risk rectal cancer: a phase II trial.

Purpose: To evaluate the pathological complete response (pCR) rate of locally advanced rectal cancer (LARC) after adaptive high-dose neoadjuvant chemoradiation (CRT) based on  F-fluorodeoxyglucose positron emission tomography/computed tomography ( F-FDG-PET/CT).

Methods: The primary endpoint was the pCR rate. Secondary endpoints were the predictive value of  F-FDG-PET/CT on pathological response and acute and late toxicity.

Automated Prediction of the Response to Neoadjuvant Chemoradiotherapy in Patients Affected by Rectal Cancer.

Background: Rectal cancer is a malignant neoplasm of the large intestine resulting from the uncontrolled proliferation of the rectal tract. Predicting the pathologic response of neoadjuvant chemoradiotherapy at an MRI primary staging scan in patients affected by locally advanced rectal cancer (LARC) could lead to significant improvement in the survival and quality of life of the patients. In this study, the possibility of automatizing this estimation from a primary staging MRI scan, using a fully automated artificial intelligence-based model for the segmentation and consequent characterization of the tumor areas using radiomic features was evaluated.

Assessment of the 2020 NICE criteria for preoperative radiotherapy in patients with rectal cancer treated by surgery alone in comparison with proven MRI prognostic factors: a retrospective cohort study.

Background: Selection of patients for preoperative treatment in rectal cancer is controversial. The new 2020 National Institute for Health and Care Excellence (NICE) guidelines, consistent with the National Comprehensive Cancer Network guidelines, recommend preoperative radiotherapy for all patients except for those with radiologically staged T1-T2, N0 tumours. We aimed to assess outcomes in non-irradiated patients with rectal cancer and to stratify results on the basis of NICE criteria, compared with known MRI prognostic factors now omitted by NICE.

Recognition of facial emotion expressions and perceptual processes in 22q11.2 deletion syndrome.

Background: Social cognition (SC) deficits and of its facial emotion expression (FEE) component have been described in 22q11.2 Deletion Syndrome (22q11.2DS), a high-risk for schizophrenia (SCZ) systemic genetic syndrome.

Unexpected response to fourth-line paclitaxel in a patient with metastatic oropharyngeal squamous cell carcinoma, immunotherapy-refractory: a case report.

In recent years, immune checkpoint inhibitors (ICIs), including nivolumab and pembrolizumab have revolutionized the treatment landscape in recurrent/metastatic (R/M) head and neck squamous cell carcinoma (HNSCC). However, many patients do not respond to ICIs for reasons that remain largely unknown. For patients who progress on ICIs, chemotherapy and/or biologic therapies are the most widely used treatments based on the clinician's choice, with no defined sequence strategy.

Dynamics of RAS/BRAF Mutations in cfDNA from Metastatic Colorectal Carcinoma Patients Treated with Polychemotherapy and Anti-EGFR Monoclonal Antibodies.

Analysis of plasma-derived cell-free DNA (cfDNA) might allow for the early identification of resistance in metastatic colorectal carcinoma (mCRC) patients receiving anti-EGFR monoclonal antibodies. We tested plasma samples from the Erbitux Metastatic Colorectal Cancer Strategy (ERMES) phase III trial of FOLFIRI+Cetuximab in first-line treatment of RAS/BRAF wild-type mCRC. Samples were collected at baseline ( = 37), at 8 weeks of treatment ( = 32), progressive disease (PD; = 36) and 3 months after PD ( = 21).

Management of Significant Polyp and Early Colorectal Cancer Is Optimized by Implementation of a Dedicated Multidisciplinary Team Meeting: Lessons Learned From the United Kingdom National Program.

Background: The concept of significant polyps and early colorectal cancer encompasses complex polyps not amenable to routine snare polypectomy or where malignancy cannot be excluded. The assessment and management of these lesions is contentious and increasingly important due to the significant risk of over- or undertreatment.

Objective: Following the recommendations of the Significant Polyps and Early Colorectal Cancer National Program, we implemented a dedicated multidisciplinary team meeting and analyzed the influence on patient outcomes.