Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.

The genetic diagnostics of inherited neuromuscular diseases (NMDs) is challenging due to their clinical and genetic heterogeneity. We launched an online survey within the EURO-NMD European Reference Network (ERN) to collect information about the availability/distribution of genetic testing across 61 ERN health care providers (HCPs). A 17 items questionnaire was designed to address methods used, the number of genetic tests available, the clinical pathway to access genetic testing, the use of next-generation sequencing (NGS) and participation to quality assessment schemes (QAs).

Choroid Plexus Cyst of the Fourth Ventricle Associated with Intermittent Obstructive Hydrocephalus.

Background: Choroid plexus cysts (CPCs) are a type of neuroepithelial cysts, benign lesions located more frequently in the supratentorial compartment. Symptomatic CPCs in the posterior fossa are extremely rare and can be associated with obstructive hydrocephalus.

Case Description: A previously healthy elderly woman suffered intermittent attacks of headache and vomiting associated with gait instability.

Glioblastoma: Prognostic Factors and Predictive Response to Radio and Chemotherapy.

Glioblastoma multiforme (GBM) is characterized by poor prognosis despite an aggressive therapeutic strategy. In recent years, many advances have been achieved in the field of glioblastoma biology. Here we try to summarize the main clinical and biological factors impacting clinical prognostication and therapy of GBM patients.

Organs at risk's tolerance and dose limits for head and neck cancer re-irradiation: A literature review.

Re-irradiation is becoming an established treatment option for recurrent or second primary head and neck cancer(HNC). However, acute and long-term RT-related toxicities could dramatically impact patients' quality of life. Due to the sparse literature regarding HNC re-irradiation, data on tolerance doses for various organs at risk (OARs) are scarce.

Long-term impact of diabetes in patients with ST-segment elevation myocardial infarction: Insights from the EXAMINATION randomized trial.

Background: Long-term outcomes of diabetic patients suffering from ST-segment elevation myocardial infarction (STEMI) and treated with second-generation drug-eluting stent have been scarcely evaluated. The aim of this posthoc subanalysis of the EXAMINATION trial was to compare 5-year outcomes according to the presence of diabetes mellitus.

Methods: From a total of 1,497 patients included in the trial, 258 were diabetics (n = 137, received everolimus-eluting stent (EES) and n = 121 bare-metal stent (BMS); whereas 1,239 were nondiabetics (n = 613 treated with EES and n = 626 with BMS).

Controversies and Misconceptions Related to Cerebrospinal Fluid Circulation: A Review of the Literature from the Historical Pioneers' Theories to Current Models.

Models of cerebrospinal fluid (CSF) circulation have been mainly proposed in the last century: CSF goes from the ventricles to the subarachnoidal space (SAS), passing through the aqueduct and the foramen of Luschka and Magendie. Indeed, new models, involving the Virchow-Robin space (VRS) and the perivascular space (PVS), have been proposed. We critically reviewed the literature, in order to clarify the "classical" errors and to discuss the "new" models that are evolving currently.

Staged Thyroidectomy: A Single Institution Perspective.

Background: The increasing use of intraoperative neuromonitoring (IONM) in thyroid surgery has revealed the need to develop new strategies for cases in which a loss of signal (LOS) occurs on the first side of a planned total thyroidectomy.

Objectives: This study reviews the experience of the authors in using IONM for planned total thyroidectomy after LOS on the first thyroid lobe. The aims were to estimate the incidence of LOS on the first side of resection and to compare intraoperative strategies applied after this event.

Cost-effectiveness of everolimus-eluting versus bare-metal stents in ST-segment elevation myocardial infarction: An analysis from the EXAMINATION randomized controlled trial.

Background: Use of everolimus-eluting stents (EES) has proven to be clinically effective and safe in patients with ST-segment elevation myocardial infarction but it remains unclear whether it is cost-effective compared to bare-metal stents (BMS) in the long-term. We sought to assess the cost-effectiveness of EES versus BMS based on the 5-year results of the EXAMINATION trial, from a Spanish health service perspective.

Methods: Decision analysis of the use of EES versus BMS was based on the patient-level clinical outcome data of the EXAMINATION trial.

Pattern of dysphagia after swallowing-sparing intensity-modulated radiotherapy (IMRT) of head and neck cancers: results of a mono-institutional prospective study.

Background And Purpose: A prospective instrumental assessment of late dysphagia using swallowing organs at risk (SWOARs)-sparing IMRT for nasopharyngeal and oropharyngeal cancers.

Materials And Methods: Objective instrumental assessment included fiberoptic endoscopic evaluation of swallowing (FEES) and videofluoroscopy (VFS) at baseline, and at 6 and 12 months after treatment. FEES assessed the pharyngeal residue according to the Farneti pooling score (P-score) as follows: 4-5 no dysphagia; 6-7 mild dysphagia; 8-9 moderate dysphagia; 10-11 severe dysphagia.

Treatment of Colorectal Cancer: a Multidisciplinary Approach.

Background: Colorectal cancer is the third most prevalent cancer in the world, preceded by prostate and lung cancers in men (10%) and breast and lung cancers in women (9.4%). Colorectal cancer is the fourth leading cause of death in men (7.

Can the addition of radiotherapy postoperatively increase clinical outcome of patients with gastric cancer? A systematic review of the literature and meta-analysis.

Background: Although several studies have been carried out to determine the best treatment for gastric carcinoma, the data on survival rate still remain inconclusive.

Objective: To evaluate the effects of postoperative radio-chemotherapy on overall and disease-free survival.

Data Sources: MEDLINE and CANCERLIT searches of reference lists (for the period 1970 to 2016) were supplemented with hand search of reference lists.

Is It Possible a Conservative Approach After Radiochemotherapy in Locally Advanced Rectal Cancer (LARC)? A Systematic Review of the Literature and Meta-analysis.

Background: Locally advanced rectal cancer is usually treated with a preoperative approach with radiochemotherapy followed by surgery. Patients obtaining a pathologic complete response have a very favorable long-term prognosis. This study was intended to assess whether major surgery can reduce tumor recurrences and prolong survival of patients with a complete response after radiochemotherapy.

Radical radiation therapy for oligometastatic breast cancer: Results of a prospective phase II trial.

Background And Purpose: We conducted a prospective phase II multicentric trial to determine if radical radiation therapy to all metastatic sites might improve the progression-free survival (PFS) in oligometastatic breast cancer patients. Secondary endpoints were local control (LC), overall survival (OS) and toxicity.

Methods And Materials: Inclusion criteria were the following: oligometastatic breast cancer with ≤5 metastatic sites, FDG-PET/CT staging, no brain metastases, primary tumor controlled.

Choices of Stent and Cerebral Protection in the Ongoing ACST-2 Trial: A Descriptive Study.

Objective/background: Several plaque and lesion characteristics have been associated with an increased risk for procedural stroke during or shortly after carotid artery stenting (CAS). While technical advancements in stent design and cerebral protection devices (CPD) may help reduce the procedural stroke risk, and anatomy remains important, tailoring stenting procedures according to plaque and lesion characteristics might be a useful strategy in reducing stroke associated with CAS. In this descriptive report of the ongoing Asymptomatic Carotid Surgery Trial-2 (ACST-2), it was assessed whether choice for stent and use or type of CPD was influenced by plaque and lesion characteristics.

Use of Complementary and Alternative Medicine (CAM) in cancer patients: An Italian multicenter survey.

Introduction: Complementary and Alternative Medicine (CAM) include a wide range of products (herbs, vitamins, minerals, and probiotics) and medical practices, developed outside of the mainstream Western medicine. Patients with cancer are more likely to resort to CAM first or then in their disease history; the potential side effects as well as the costs of such practices are largely underestimated.

Patients And Method: We conducted a descriptive survey in five Italian hospitals involving 468 patients with different malignancies.

Trends in net survival from liver cancer in six European Latin countries: results from the SUDCAN population-based study.

Liver cancer represents a major clinical challenge. The aim of the SUDCAN collaborative study was to compare the net survival from liver cancer between six European Latin countries (Belgium, France, Italy, Portugal, Spain and Switzerland) and provide trends in net survival and dynamics of excess mortality rates (EMRs) up to 5 years after diagnosis. The data were extracted from the EUROCARE-5 database.

Clinical outcomes in patients with ST-segment elevation myocardial infarction treated with everolimus-eluting stents versus bare-metal stents (EXAMINATION): 5-year results of a randomised trial.

Background: Data for the safety and efficacy of new-generation drug-eluting stents at long-term follow-up, and specifically in patients with ST-segment elevation myocardial infarction, are scarce. In the EXAMINATION trial, we compared everolimus-eluting stents (EES) with bare-metal stents (BMS) in an all-comer population with ST-segment elevation myocardial infarction. In this study, we assessed the 5-year outcomes of the population in the EXAMINATION trial.

Anti-VEGF Therapy for Retinal Vein Occlusions.

Retinal vein occlusion (RVO) is the second most common cause of visual loss in the Western World. RVO is usually classified into branch RVO (BRVO) and central RVO (CRVO) according to the anatomical site of the vascular occlusion. The pathogenesis of RVO is not yet fully understood, however an important event is the intraluminal thrombus formation, which is usually secondary to several conditions such as hypertension, hyperlipidemia, diabetes and thrombophilia.

Health-related quality of life in inflammatory bowel disease in a European-wide population-based cohort 10 years after diagnosis.

Background: Chronic inflammatory bowel disease (IBD) negatively affects the patient's health-related quality of life (HRQoL). Only a few population-based studies have compared the HRQoL of patients with the background population. The aim of this study was to evaluate the HRQoL in a European cohort of patients with ulcerative colitis and Crohn's disease 10 years after diagnosis (European Collaborative study group of Inflammatory Bowel Disease) compared with the national background population in each country and to assess possible country-specific differences.