Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Background: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero ()-related neuropathy, focusing on the five main mutation clusters across Italy.

Methods: We retrospectively gathered a minimal data set of clinical information in a series of patients with these frequent mutations recruited among Italian Charcot-Marie-Tooth (CMT) registry centres, including disease onset/severity (CMTES-CMT Examination Score), motor/sensory symptoms and use of orthotics/aids.

Results: We collected data from 186 patients: 60 had the p.

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.

Background: Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the transthyretin gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran is a small interfering RNA molecule drug that reduces circulating levels of mutant and wild-type TTR proteins.

Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?

Background And Purpose: Hereditary transthyretin amyloidosis (ATTRv) is a life-threatening disease caused by mutations in the gene encoding transthyretin (TTR). The recent therapeutic advances have underlined the importance of easily accessible, objective biomarkers of both disease onset and progression. Preliminary evidence suggests a potential role in this respect for neurofilament light chain (NfL).

Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.

Background: Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series.

Methods: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls.

Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.

Background And Purpose: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated.

Methods: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group.

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.

Background: There is little information about neuropsychiatric comorbidities in Charcot-Marie-Tooth disease (CMT). We assessed frequency of anxiety, depression, and general distress in CMT.

Methods: We administered online the Hospital Anxiety-Depression Scale (HADS) to CMT patients of the Italian registry and controls.

Higher Baseline Proinflammatory Cytokines Mark Poor Antidepressant Response in Bipolar Disorder.

Background: The clinical relevance of raised levels of circulating cytokines in bipolar disorder is still unclear. Cytokines influence neurotransmitters, neuroplasticity, and white matter integrity. An inconsistent literature suggests that higher cytokine levels could hamper antidepressant response.

[Adenocarcinoma of the lacrimal gland in bilateral retinoblastoma treated with external radiotherapy: a case report].

This clinical case report describes the clinical findings and diagnosis of lacrimal gland adenocarcinoma that developed 20 years after external beam radiotherapy in the treatment of bilateral retinoblastoma. Visual acuity, slit lamp biomicroscopy, fundus color photography, nuclear magnetic resonance, lateral orbitotomy and histological analysis are described.

Does habituation depend on cortical inhibition? Results of an rTMS study in healthy subjects.

Habituation, i.e. the decremental response to repeated sensorial stimulation, is studied in humans through evoked potential stimulation.

Investigation of tinnitus patients in Italy: clinical and audiological characteristics.

Objective. 312 tinnitus sufferers were studied in order to analyze: the clinical characteristics of tinnitus; the presence of tinnitus-age correlation and tinnitus-hearing loss correlation; the impact of tinnitus on subjects' life and where possible the etiological/predisposing factors of tinnitus. Results.

Assessing audiological, pathophysiological and psychological variables in tinnitus patients with or without hearing loss.

The aim of this work is to study the characteristics of tinnitus both in normal hearing subjects and in patients with hearing loss. The study considered tinnitus sufferers, ranging from 21 to 83 years of age, who were referred to the Audiology Section of Palermo University in the years 2006-2008. The following parameters were considered: age, sex, hearing threshold, tinnitus laterality, tinnitus duration, tinnitus measurements and subjective disturbance caused by tinnitus.

Using robotics construction kits as metacognitive tools: a research in an Italian primary school.

The present paper is aimed at analyzing the process of building and programming robots as a metacognitive tool. Quantitative data and qualitative observations from a research performed in a sample of children attending an Italian primary school are described in this work. Results showed that robotics activities may be intended as a new metacognitive environment that allows children to monitor themselves and control their learning actions in an autonomous and self-centered way.

The role of atopy in otitis media with effusion among primary school children: audiological investigation.

The objective of this study was to evaluate the role of atopy in otitis media with effusion (OME) in children attending primary school in western Sicily focusing on the audiological characteristics among atopic and non-atopic subjects suffering from OME. A total of 310 children (5-6 years old) were screened by skin tests and divided into atopics (G1) and non-atopics (G2). The samples were evaluated for OME by pneumatic otoscopy, tympanogram and acoustic reflex tests.

Angioid streak-related choroidal neovascularization treated by intravitreal ranibizumab.

Purpose: The purpose of this study was to report the visual outcome of intravitreal therapy with ranibizumab of choroidal neovascularization secondary to angioid streaks after 1-year follow-up.

Methods: Nine patients (age, 58 +/- 4 years; range, 53-65 years) were treated with off-label intravitreal injections of 0.3 mg ranibizumab.

Characteristics of tinnitus with or without hearing loss: clinical observations in Sicilian tinnitus patients.

Objective: To analyze the clinical characteristics of tinnitus both in normal hearing subjects and in patients with hearing loss.

Methods: The study considered 312 tinnitus sufferers, 176 males and 136 females, ranging from 21 to 83 years of age, who were referred to the Audiology Section of the Department of Bio-technology of Palermo University. The following parameters were considered: age, sex, hearing threshold, tinnitus laterality, tinnitus duration, tinnitus measurements and subjective disturbance caused by tinnitus.

[Heart ischemia and psychosomatics: the role of stressful events and lifestyles].

Objective: the aim of our study was to evaluate the role of stressful events, lifestyles and various socio-environmental factors in the beginning of ischemic cardiac diseases, together with cardiovascular factors.

Materials And Methods: 64 patients with recent cardiac ischemia and 64 controls matched 1:1, according to their sex and age, have been evaluated. The study required the filling in of clinico-anamnestic reports and the evaluation of stressful events, using the Holmes Rahe scale.

The point prevalence of otitis media with effusion among primary school children in Western Sicily.

The objective of this study is to identify the prevalence of otitis media with effusion (OME) in primary school children and to value the possible predisposing factors focusing on relationship between allergy and OME in Western Sicily. 2,097 children attending primary school were screened from September 2006 to June 2007 in Sciacca. Children underwent pneumatic otoscopy, skin tests, tympanogram and acoustic reflex tests.

Modulation of visual cortex excitability in migraine with aura: effects of valproate therapy.

We explored the effects of valproate treatment on visual cortex excitability changes in migraine with aura patients. Abnormal cortical excitability has been suggested to play an important role in the etiopathogenesis of migraine; in particular, it has been suggested a failure of inhibitory circuits in migraine with aura. Valproate acts as a central GABA agonist and it is reasonable suppose that VPA could modify cortical excitability state.