Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.

Geometry and Symmetry of Willis' Circle and Middle Cerebral Artery Aneurysms Development.

: A relationship between the geometry and symmetry of Willis' circle and intracranial aneurysms was reported for anterior communicating and posterior communicating (PCom) aneurysms. A similar association with the middle cerebral artery (MCA) aneurysms instead appeared weaker. : We reviewed 432 patients from six Italian centers with unilateral MCA aneurysms, analyzing the relationship between the caliber and symmetry of Willis' circle and the presence of ruptured and unruptured presentation.

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero () gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in -related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias.

The neurosurgical outpatient clinic: comparison between accesses in public and private activities.

Background: Neurosurgical clinic assesses presence and extent of pathologies of central and peripheral nervous system or disorders affecting the spine, to identify most effective treatment and possible recourse to surgery. The aim of the study is to evaluate the appropriateness of request for a neurosurgical consult both in private and in public outpatient clinics.

Materials And Methods: We collected and analyzed all the reports of outpatient visits of public and private clinic over a period between January and December 2018.

Phase II study of capecitabine-based concomitant chemoradiation followed by durvalumab as a neoadjuvant strategy in locally advanced rectal cancer: the PANDORA trial.

Background: This study investigated the efficacy of chemoradiotherapy (CRT) followed by durvalumab as neoadjuvant therapy of locally advanced rectal cancer.

Patients And Methods: The PANDORA trial is a prospective, phase II, open-label, single-arm, multicenter study aimed at evaluating the efficacy and safety of preoperative treatment with durvalumab (1500 mg every 4 weeks for three administrations) following long-course radiotherapy (RT) plus concomitant capecitabine (5040 cGy RT in 25-28 fractions over 5 weeks and capecitabine administered at 825 mg/m twice daily). The primary endpoint was the pathological complete response (pCR) rate; secondary endpoints were the proportion of clinical complete remissions and safety.

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Background: The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, the Clinical Patient Management System (CPMS) is a web-based platform that seeks to boost active collaboration within and across the network, implementing data sharing. Through CPMS, it is possible to both discuss patient cases and to make patients' data available for registries and databases in a secure way.

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.

Telemedicine provides healthcare services remotely and represents a fundamental resource for the management of rare and fragile patients. Tele-health implementation is a main objective of the European Reference Networks (ERNs) mission to accelerate diagnosis for rare diseases. TeleNewCARe is a pilot case-control project which evaluates the efficacy and satisfaction of telegenetics for neuromuscular and cardiac adult patients, compared to face-to-face genetic counselling.

The COVID - AGICT study: COVID-19 and advanced gastro-intestinal cancer surgical treatment. A multicentric Italian study on the SARS-CoV-2 pandemic impact on gastro-intestinal cancers surgical treatment during the 2020. Analysis of perioperative and short-term oncological outcomes.

Background: This Italian multicentric retrospective study aimed to investigate the possible changes in outcomes of patients undergoing surgery for gastrointestinal cancers during the COVID-19 pandemic.

Method: Our primary endpoint was to determine whether the pandemic scenario increased the rate of patients with colorectal, gastroesophageal, and pancreatic cancers resected at an advanced stage in 2020 compared to 2019. Considering different cancer staging systems, we divided tumors into early stages and advanced stages, using pathological outcomes.

Comparison Between Intrasylvian and Intracerebral Hematoma Associated with Ruptured Middle Cerebral Artery Aneurysms: Clinical Implications, Technical Considerations, and Outcome Evaluation.

Background: Subarachnoid hemorrhage (SAH) due to a middle cerebral artery (MCA) aneurysm rupture is often associated with an intracerebral hematoma (ICH) or intrasylvian hematoma (ISH).

Methods: We reviewed 163 patients with ruptured MCA aneurysms associated with pure SAH or SAH plus ICH or ISH. The patients were first dichotomized according to the presence of a hematoma (ICH or ISH).

The Impact of Single-Level ACDF on Neural Foramen and Disc Height of Surgical and Adjacent Cervical Segments: A Case-Series Radiological Analysis.

Background: ACDF has become one of the established procedures for the surgical treatment of symptomatic cervical spondylosis, showing excellent clinical results and effective improvements in neural functions and neck pain relief. The main purpose of ACDF is neural decompression, and it is considered by some authors as an indirect result of the intervertebral distraction and cage insertion and the consequent restoration of the disc space and foramen height. Methods: Radiological data from 28 patients who underwent single-level ACDF were retrospectively collected and evaluated.

Stem Cell Strategies in Promoting Neuronal Regeneration after Spinal Cord Injury: A Systematic Review.

Spinal cord injury (SCI) is a devastating condition with a significant medical and socioeconomic impact. To date, no effective treatment is available that can enable neuronal regeneration and recovery of function at the damaged level. This is thought to be due to scar formation, axonal degeneration and a strong inflammatory response inducing a loss of neurons followed by a cascade of events that leads to further spinal cord damage.

Intraoperative Evaluation of Brain-Tumor Microvascularization through MicroV IOUS: A Protocol for Image Acquisition and Analysis of Radiomic Features.

Microvascular Doppler (MicroV) is a new-generation Doppler technique developed by Esaote (Esaote s.p.a.

Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence.

Purpose: To report the efficacy and tolerability of brivaracetam (BRV) in add-on therapy in pediatric patients with severe drug-resistant epilepsy. Prognostic factors of clinical outcome were also analyzed.

Methods: This Italian multicenter retrospective observational study was conducted on 45 pediatric patients with severe drug-resistant epilepsy, treated with BRV for at least 1 month and with a follow-up >6 months.

Clipping versus coiling for treatment of middle cerebral artery aneurysms: a retrospective Italian multicenter experience.

Endovascular treatment has emerged as the predominant approach in intracranial aneurysms. However, surgical clipping is still considered the best treatment for middle cerebral artery (MCA) aneurysms in referral centers. Here we compared short- and long-term clinical and neuroradiological outcomes in patients with MCA aneurysms undergoing clipping or coiling in 5 Italian referral centers for cerebrovascular surgery.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.

Objective: This review article focuses on clinical and genetic features of paroxysmal neurological disorders featuring episodic ataxia (EA) and epilepsy and help clinicians recognize, diagnose, and treat patients with co-existing EA and epilepsy. It also provides an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.

Methods: Based on a literature review on Pubmed database, a list of genes linked to paroxysmal neurological disorders featuring EA and epilepsy were compiled.

Association of the Extent of Resection with Survival in Multiple Primary Lung Cancer: A Systematic Review.

Background: The incidence of synchronous multiple primary lung cancer (SMPLC) has progressively increased, due to recent advances in imaging. To date, no guidelines defining recommendations for patients' selection and no standard treatment of cases with SMPLC have been defined.The primary aim of this systematic review was to assess survival among patients treated with lobectomy or sublobar resection MPLC.

Vascular Accesses in Cardiac Stimulation and Electrophysiology: An Italian Survey Promoted by AIAC (Italian Association of Arrhythmias and Cardiac Pacing).

Cardiac implantable electronic device (CIED) implants and electrophysiological procedures share a common step: vascular access. On behalf of the AIAC Ricerca Investigators' Network, we conducted a survey to outline Italian common practice regarding vascular access in EP-lab. All Italian physicians with experience in CIED implantation and electrophysiology were invited to answer an online questionnaire (from May 2020 to November 2020) featuring 20 questions.

Development and validation of a questionnaire on tuberculosis among foreign-born individuals in a province of northern Italy.

Introduction: In low tuberculosis (TB) incidence countries, foreign-born individuals represent a population at risk. Knowledge, Attitude and Practice (KAP) surveys use standardized and structured questionnaires to collect information by a specific population in relation to a particular topic. As primary objective, we developed and validated a questionnaire exploring TB knowledge among foreign-born individuals from high TB incidence countries living in Ferrara's province, a low TB incidence province of northern Italy.

Acute lymphoblastic leukemia in a child with Weiss-Kruszka syndrome: Casual or causal association?

Weiss-Kruszka syndrome is a recently described genetic disorder characterized by craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. It is caused by heterozygous loss-of-function variantsin ZNF462 gene. During the time, the original phenotype was expanded, including several complications, sensorineural hearing loss, congenital hypogonadotropic hypogonadism with anosmia and complete growth hormone deficiency associated with empty sella syndrome.

Vaccine-induced immune thrombotic thrombocytopenia with atypical vein thrombosis: Implications for clinical practice.

Objectives: Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a new and rare syndrome resulting from the largest vaccination campaign against SARS-CoV-2 in the history of mankind. The aim of this review is to clarify underlying mechanisms, pathology, diagnosis, and therapy, with the related clinical implications.

Methods: We performed a comprehensive literature review in order to collect the clinical and treatment data about patients suffering from VITT.

Autopsy Findings and Causality Relationship between Death and COVID-19 Vaccination: A Systematic Review.

The current challenge worldwide is the administration of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine. Considering that the COVID-19 vaccination represents the best possibility to resolve this pandemic, this systematic review aims to clarify the major aspects of fatal adverse effects related to COVID-19 vaccines, with the goal of advancing our knowledge, supporting decisions, or suggesting changes in policies at local, regional, and global levels. Moreover, this review aims to provide key recommendations to improve awareness of vaccine safety.