Resting-state fMRI functional connectome of C9orf72 mutation status.

Objective: The resting-state functional connectome has not been extensively investigated in amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with patients' genetic status.

Methods: Here we studied the network-to-network connectivity of 19 ALS patients carrying the C9orf72 hexanucleotide repeat expansion (C9orf72+), 19 ALS patients not affected by C9orf72 mutation (C9orf72-), and 19 ALS-mimic patients (ALSm) well-matched for demographic and clinical variables.

Results: When compared with ALSm, we observed greater connectivity of the default mode and frontoparietal networks with the visual network for C9orf72+ patients (P = 0.

C9orf72 ALS mutation carriers show extensive cortical and subcortical damage compared to matched wild-type ALS patients.

Objective: C9orf72 mutation carriers with different neurological phenotypes show cortical and subcortical atrophy in multiple different brain regions, even in pre-symptomatic phases. Despite there is a substantial amount of knowledge, small sample sizes, clinical heterogeneity, as well as different choices of image analysis may hide anatomical abnormalities that are unique to amyotrophic lateral sclerosis (ALS) patients with this genotype or that are indicative of the C9orf72-specific trait overlain in fronto-temporal dementia patients.

Methods: Brain structural and resting state functional magnetic imaging was obtained in 24 C9orf72 positive (ALSC9+) ALS patients paired for burden disease with 24 C9orf72 negative (ALSC9-) ALS patients.

Trial of Globus Pallidus Focused Ultrasound Ablation in Parkinson's Disease.

Background: Unilateral focused ultrasound ablation of the internal segment of globus pallidus has reduced motor symptoms of Parkinson's disease in open-label studies.

Methods: We randomly assigned, in a 3:1 ratio, patients with Parkinson's disease and dyskinesias or motor fluctuations and motor impairment in the off-medication state to undergo either focused ultrasound ablation opposite the most symptomatic side of the body or a sham procedure. The primary outcome was a response at 3 months, defined as a decrease of at least 3 points from baseline either in the score on the Movement Disorders Society-Unified Parkinson's Disease Rating Scale, part III (MDS-UPDRS III), for the treated side in the off-medication state or in the score on the Unified Dyskinesia Rating Scale (UDysRS) in the on-medication state.

Identifying the risk of dyslexia in bilingual children: The potential of language-dependent and language-independent tasks.

This study investigates the linguistic processing and non-linguistic cognitive abilities of monolingual and bilingual children with and without reading difficulties and examines the relationship between these skills and reading. There were 72 Italian-speaking children: 18 monolingual good readers (MONO-GR, M = 10;4), 19 monolingual poor readers (MONO-PR, M = 10;3), 21 bilingual good readers (BI-GR, M = 10;6), and 16 bilingual poor readers (BI-PR, M = 10;6). All bilingual children spoke Italian as their L2.

Single-Shot Local Injection of Microfragmented Fat Tissue Loaded with Paclitaxel Induces Potent Growth Inhibition of Hepatocellular Carcinoma in Nude Mice.

Hepatocellular carcinoma (HCC) is poorly beneficiated by intravenous chemotherapy due to inadequate availability of drugs at the tumor site. We previously demonstrated that human micro-fragmented adipose tissue (MFAT) and its devitalized counterpart (DMFAT) could be effective natural scaffolds to deliver Paclitaxel (PTX) to tumors in both in vitro and in vivo tests, affecting cancer growth relapse. Here we tested the efficacy of DMFAT-PTX in a well-established HCC in nude mice.

Multicenter Interventional Phase IV Study for the Assessment of the Effects on Patient's Satisfaction of Peg IFN Beta-1a (Pre-filled Pen) in Subjects With Relapsing-Remitting Multiple Sclerosis Unsatisfied With Other Injectable Subcutaneous Interferons (PLATINUM Study).

Subcutaneous (SC) interferons beta (IFN-beta) are effective therapies for the treatment of relapsing-remitting multiple sclerosis (RRMS). Factors such as dosing schedule, needle intolerance/fatigue, and side effects may impact patient satisfaction with treatment. Improvement of patient satisfaction may increase the adherence to treatment and the patient quality of life.

Effects of direct laryngoscopy versus Glidescope videolaryngoscopy on subjective and objective measures of cognitive workload: an in-vivo randomized trial.

Background: Laryngoscopy and tracheal intubation are associated with high operators' workload, which potentially causes lower performance and risk of errors. Measuring anesthesiologists' mental workload during instrumental procedures allows to test the usability of the devices and, by managing operators' workload, improve clinical decision making. The aim of this study was to investigate the differences in subjective and objective cognitive workload between videolaryngoscopy with hyperangulated blade (Glidescope) vs.

Recommendations for Effective Intersectoral Collaboration in Health Promotion Interventions: Results from Joint Action CHRODIS-PLUS Work Package 5 Activities.

The burden of chronic disease in Europe continues to grow. A major challenge facing national governments is how to tackle the risk factors of sedentary lifestyle, alcohol abuse, smoking, and unhealthy diet. These factors are complex and necessitate intersectoral collaboration to strengthen health promotion, counter-act the social determinants of health, and reduce the prevalence of chronic disease.

The needs of persons with chronic health conditions to maintain or return to work 30 years after transformation from socialism into capitalism - a preliminary report from the Polish part of the PATHWAYS project.

Objectives: An increased burden of chronic diseases in the working age population is observed across high income countries. Persons with chronic diseases (PwCDs) are less likely to maintain or return to work due to several constraints they experience. The purpose of the study was to assess the preferences and needs of PwCDs regarding 6 areas of flexibility at the workplace.

Clinical characteristics and outcomes of inpatients with neurologic disease and COVID-19 in Brescia, Lombardy, Italy.

Objective: To report clinical and laboratory characteristics, treatment, and clinical outcomes of patients admitted for neurologic diseases with and without coronavirus disease 2019 (COVID-19).

Methods: In this retrospective, single-center cohort study, we included all adult inpatients with confirmed COVID-19 admitted to a neuro-COVID unit beginning February 21, 2020, who had been discharged or died by April 5, 2020. Demographic, clinical, treatment, and laboratory data were extracted from medical records and compared (false discovery rate corrected) to those of neurologic patients without COVID-19 admitted in the same period.

EMG-based vibro-tactile biofeedback training: effective learning accelerator for children and adolescents with dystonia? A pilot crossover trial.

Background: This study is aimed at better understanding the role of a wearable and silent ElectroMyoGraphy-based biofeedback on motor learning in children and adolescents with primary and secondary dystonia.

Methods: A crossover study with a wash-out period of at least 1 week was designed; the device provides the patient with a vibration proportional to the activation of an impaired target muscle. The protocol consisted of two 5-day blocks during which subjects were trained and tested on a figure-8 writing task: their performances (at different levels of difficulty) were evaluated in terms of both kinematics and muscular activations on day 1 and day 5, while the other 3 days were purely used as training sessions.

Treatment of multiple sclerosis with rituximab: A multicentric Italian-Swiss experience.

Background: Rituximab, an anti-CD20 monoclonal antibody leading to B lymphocyte depletion, is increasingly used as an off-label treatment option for multiple sclerosis (MS).

Objective: To investigate the effectiveness and safety of rituximab in relapsing-remitting (RR) and progressive MS.

Methods: This is a multicenter, retrospective study on consecutive MS patients treated off-label with rituximab in 22 Italian and 1 Swiss MS centers.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

Background: Inclusion body myositis is an idiopathic inflammatory myopathy and the most common myopathy affecting people older than 50 years. To date, there are no effective drug treatments. We aimed to assess the safety, efficacy, and tolerability of bimagrumab-a fully human monoclonal antibody-in individuals with inclusion body myositis.

Difficult entry and return to the labor market: on the professional (re)integration of people with disabilities and chronic health conditions in Poland (The PATHWAYS research project).

Objectives: The objective of this study is to present the barriers existing in Poland to professional integration and reintegration of people with chronic diseases, including mental health conditions, and discuss them on the basis of expert opinions and in comparison with the situation in other European countries.

Material And Methods: The research methodology was based on a mixed-methods approach, including literature review, in-depth expert interviews, and a survey (based on a structured questionnaire) performed with experts.

Results: The mapping of policies, systems and services facilitating the integration and reintegration of people with chronic diseases in Poland, as well as expert opinions, made it possible to identify many barriers regarding access to support, such as an obligation to have a certificate of disability, and a system of certification by 2 institutions.

Release of paused RNA polymerase II at specific loci favors DNA double-strand-break formation and promotes cancer translocations.

It is not clear how spontaneous DNA double-strand breaks (DSBs) form and are processed in normal cells, and whether they predispose to cancer-associated translocations. We show that DSBs in normal mammary cells form upon release of paused RNA polymerase II (Pol II) at promoters, 5' splice sites and active enhancers, and are processed by end-joining in the absence of a canonical DNA-damage response. Logistic and causal-association models showed that Pol II pausing at long genes is the main predictor and determinant of DSBs.

Return to Work Interventions for Cancer Survivors: A Systematic Review and a Methodological Critique.

Cancer patients are more at risk of being unemployed or having difficulties to return to work (RTW) compared to individuals without health concerns, and is thus a major public health issue. The aim of this systematic review is to identify and describe the interventions developed specifically to help cancer patients to RTW after treatment. Two researchers independently screened the articles for inclusion and Critical Appraisal Skills Program (CASP) checklists were used to assess the methodology of the included studies.

Real-Time Ex-Vivo Magnetic Resonance Image-Guided Dissection of Human Brain White Matter: A Proof-of-Principle Study.

Objective: Modern neuroanatomic education should be based on interdisciplinary methods that allow an understanding of the cerebral circuitry, which is at the base of the structural connectivity. Ex-vivo MRI-guided dissection is an essential method for developing and refining the knowledge of complex 3-dimensional brain anatomy and the mutual relationships between structures and architecture of the white matter bundles. The aim of this technical note is to present a new and innovative method of studying human brain white matter.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Objective: Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.