Mapping the brain network of the phonological loop.

The cortical and subcortical neural correlates underlying item and order information in verbal short-term memory (STM) were investigated by means of digit span in 29 patients with direct electrical stimulation during awake surgery for removal of a neoplastic lesion. Stimulation of left Broca's area interfered with span, producing significantly more item than order errors, as compared to the stimulation of the supramarginal/angular gyrus, which also interfered with span but, conversely, produced more order than item errors. Similarly, stimulation of the third segment of the left superior longitudinal fasciculus (SLF-III), also known as anterior segment of the arcuate fascicle (AF), produced more order than item errors.

Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease.

Importance: A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed.

Objectives: To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS.

Design, Setting, And Participants: In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score-Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months.

Outcome appraisal of patients with limited brain metastases (BMs) from non small cell lung cancer (NSCLC) treated with different local therapeutic strategies: a single institute evaluation.

Objective: To evaluate the outcome of patients with non-small-cell lung cancer (NSCLC) with limited brain metastases (BMs) treated with local approaches omitting whole-brain radiation therapy (WBRT).

Methods: Surgery was performed in case of a single, large BM, controlled extracranial disease and Karnofsky Performance Status (KPS) 90-100; stereotactic radiosurgery (SRS) or hypofractionated stereotactic radiosurgery (HSRS) was performed in all other cases. The prescribed dose was 24 Gy/1 fraction for lesions <2.

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials. Here we show that a common null polymorphism (R577X) in ACTN3 results in significantly reduced muscle strength and a longer 10 m walk test time in young, ambulant patients with DMD; both of which are primary outcome measures in clinical trials.

Prognostic value of molecular and imaging biomarkers in patients with supratentorial glioma.

Purpose: We evaluated the relationship between C-methionine PET (C-METH PET) findings and molecular biomarkers in patients with supratentorial glioma who underwent surgery.

Methods: A consecutive series of 109 patients with pathologically proven glioma (64 men, 45 women; median age 43 years) referred to our Institution from March 2012 to January 2015 for tumour resection and who underwent preoperative C-METH PET were analysed. Semiquantitative evaluation of the C-METH PET images included SUVmax, region of interest-to-normal brain SUV ratio (SUVratio) and metabolic tumour volume (MTV).

Mercury Amalgam Diffusion in Human Teeth Probed Using Femtosecond LIBS.

In this work the diffusion of mercury and other elements from amalgam tooth restorations through the surrounding dental tissue (dentin) was evaluated using femtosecond laser-induced breakdown spectroscopy (fs-LIBS). To achieve this, seven deciduous and eight permanent extracted human molar teeth with occlusal amalgam restorations were half-sectioned and analyzed using pulses from a femtosecond laser. The measurements were performed from the amalgam restoration along the amalgam/dentin interface to the apical direction.

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.

Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species.

Functional Characterization of the Left Ventrolateral Premotor Cortex in Humans: A Direct Electrophysiological Approach.

In monkeys, motor outputs from premotor cortex (PM) involve cortico-cortical connections with primary motor cortex (M1). However, in humans, the functional organization of PM and its relationship with the corticospinal tract (CST) is still uncertain. This study was carried out in 21 patients undergoing intraoperative brain mapping prior to tumor resection.

Role of surgical resection in recurrent glioblastoma: prognostic factors and outcome evaluation in an observational study.

The role of surgical resection in progressive or recurrent glioblastoma multiforme (GBM) lack of high level of evidence. The aim of this evaluation was to assess the role of surgical resection in relapsing GBM, in relation to the extent of surgical resection (EOR) and the amount of residual tumor volume (RTV). Among patients treated for newly diagnosed GBM between September 2008-December 2014, 64 patients with recurrent GBM were included in this retrospective evaluation.

Cerebral Proliferative Angiopathy (CPA): Imaging Findings and Response to Therapy.

We report the case of a 55-year-old woman with cerebral proliferative angiopathy (CPA). Her medical history included brain surgery for small vascular lesions and suspicion of cerebral malignancy. C methionine PET (C-METH PET) demonstrated a diffusely increased uptake on the right hemisphere.

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers.

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. We grouped deletions ending on exon 45 ("del 45-x", n = 28) or 51 ("del x-51", n = 10); isolated exon 48 deletion ("del 48", n = 10); and other mutations (n = 21).

OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages.

What is the central question of this study? What is the functional relevance of OPN isoform expression in muscle pathology? What is the main finding and its importance? The full-length human OPN-a isoform is the most pro-inflammatory isoform in the muscle microenvironment, acting on macrophages and myoblasts in an RGD-integrin-dependent manner. OPN-a upregulates expression of tenascin-C (TNC), a known Toll-like receptor 4 (TLR4) agonist. Blocking TLR4 signalling inhibits the pro-inflammatory effects of OPN-a, suggesting that a potential mechanism of OPN action is by promoting TNC-TLR4 signalling.

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

The Spinal and Bulbar Muscular Atrophy Functional Rating Scale (SBMAFRS) is an established rating instrument used to assess the functional status of patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to validate an Italian version of the scale. We administered the SBMAFRS to sixty SBMA patients during routine follow-up of clinical evaluations.

Brain and Music: An Intraoperative Stimulation Mapping Study of a Professional Opera Singer.

Background: Music is one of the most sophisticated and fascinating functions of the brain. Yet, how music is instantiated within the brain is not fully characterized. Singing is a peculiar aspect of music, in which both musical and linguistic skills are required to provide a merged vocal output.

Effects of audiovisual distraction on children's behaviour during dental treatment: a randomized controlled clinical trial.

Aim: Dental anxiety leads to undesirable distresses such as avoidance of dental treatment and increase stress among caregivers that consequently affect the treatment quality. The aim of this study was therefore to evaluate the effectiveness of viewing videotaped cartoons using an eyeglass system (i-theatre™) as an audiovisual (AV) distraction technique on behaviour and anxiety in children receiving dental restorative treatment.

Methods: Fifty-six consecutive children patients who presented for treatment and met inclusion criteria were included and randomly divided into two groups; a control group without distraction (CTR-group) and a distraction-group (AV-group).

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list.

Role of Surgical Resection in Patients with Single Large Brain Metastases: Feasibility, Morbidity, and Local Control Evaluation.

Objective: The aim of this study was to evaluate the safety and the feasibility of surgery for single large brain metastases.

Methods: This retrospective study included 69 patients. All received a "supramarginal resection" according to functional boundaries, defined as a microsurgical excision with an extension larger at least 5 mm greater than the enhancing T1-weighted magnetic resonance imaging (MRI) sequence borders with dural attachment radicalization.

Outcome Evaluation of Oligometastatic Patients Treated with Surgical Resection Followed by Hypofractionated Stereotactic Radiosurgery (HSRS) on the Tumor Bed, for Single, Large Brain Metastases.

Purpose: The aim of this study was to evaluate the benefit of a combined treatment, surgery followed by adjuvant hypofractionated stereotactic radiosurgery (HSRS) on the tumor bed, in oligometastatic patients with single, large brain metastasis (BM).

Methods And Materials: Fom January 2011 to March 2015, 69 patients underwent complete surgical resection followed by HSRS with a total dose of 30Gy in 3 daily fractions. Clinical outcome was evaluated by neurological examination and MRI 2 months after radiotherapy and then every 3 months.

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Objective: To correlate time to loss of ambulation (LoA) and different truncating DMD gene mutations in a large, prospective natural history study of Duchenne muscular dystrophy (DMD), with particular attention to mutations amenable to emerging molecular treatments.

Methods: We analyzed data from the Cooperative International Neuromuscular Research Group Duchenne Natural History Study for participants with DMD single- or multi-exon deletions or duplications with defined exon boundaries (n = 186), or small mutations identified by sequencing (n = 26, including 16 nonsense point mutations). We performed a time-to-event analysis of LoA, a strong indicator of overall disease severity, adjusting for glucocorticoid treatment and genetic modifiers.

Can advanced new radiation therapy technologies improve outcome of high grade glioma (HGG) patients? analysis of 3D-conformal radiotherapy (3DCRT) versus volumetric-modulated arc therapy (VMAT) in patients treated with surgery, concomitant and adjuvant chemo-radiotherapy.

Background: To assess the impact of volumetric-modulated arc therapy (VMAT) compared with 3D-conformal radiotherapy (3DCRT) in patients with newly diagnosed high grade glioma in terms of toxicity, progression free survival (PFS) and overall survival (OS).

Methods: From March 2004 to October 2014, 341 patients underwent surgery followed by concomitant and adjuvant chemo-radiotherapy. From 2003 to 2010, 167 patients were treated using 3DCRT; starting from 2011, 174 patients underwent VMAT.

Hypo-fractionated stereotactic radiotherapy alone using volumetric modulated arc therapy for patients with single, large brain metastases unsuitable for surgical resection.

Background: Hypo-fractionated stereotactic radiotherapy (HSRT) is emerging as a valid treatment option for patients with single, large brain metastases (BMs). We analyzed a set of our patients treated with HSRT. The aim of this study was to evaluate local control (LC), brain distant progression (BDP), toxicity and overall survival (OS).

Neurite Orientation Dispersion and Density Imaging Color Maps to Characterize Brain Diffusion in Neurologic Disorders.

Purpose: Neurite orientation dispersion and density imaging (NODDI) has recently been developed to overcome diffusion technique limitations in modeling biological systems. This manuscript reports a preliminary investigation into the use of a single color-coded map to represent NODDI-derived information.

Materials And Methods: An optimized diffusion-weighted imaging protocol was acquired in several clinical neurological contexts including demyelinating disease, neoplastic process, stroke, and toxic/metabolic disease.

Dynamic contrast-enhanced and dynamic susceptibility contrast perfusion MR imaging for glioma grading: Preliminary comparison of vessel compartment and permeability parameters using hotspot and histogram analysis.

Introduction: Dynamic susceptibility contrast (DSC)-MRI is a perfusion technique with high diagnostic accuracy for glioma grading, despite limitations due to inherent susceptibility effects. Dynamic contrast-enhanced (DCE)-MRI has been proposed as an alternative technique able to overcome the DSC-MRI shortcomings. This pilot study aimed at comparing the diagnostic accuracy of DSC and DCE-MRI for glioma grading by evaluating two estimates of blood volume, the DCE-derived plasma volume (Vp) and the DSC-derived relative cerebral blood volume (rCBV), and a measure of vessel permeability, the DCE-derived volume transfer constant K(trans).