Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients.

Introduction: Muscle ultrasound is a fast, non-invasive and cost-effective examination that can identify structural muscular changes by assessing muscle thickness and echointensity (EI) with a quantitative analysis (QMUS). To assess applicability and repeatability of QMUS, we evaluated patients with genetically confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1), comparing their muscle ultrasound characteristics with healthy controls and with those detected by MRI. We also evaluated relationships between QMUS and demographic and clinical characteristics.

Nerve high-resolution ultrasound in a 2-year follow-up of radial nerve palsy related to humeral shaft fractures.

Background: High-resolution nerve ultrasonography (HRUS) could have an emerging importance in diagnosis and follow-up of axonopathic radial palsy associated with humeral shaft fractures due to closed trauma. The aim of our study was to establish the role of HURS in this context through a longitudinal multimodal analysis.

Methods: Clinical, electrodiagnostic (EDX) and HRUS evaluations were prospectively performed at month 1, 3, 6, 12 and 24 from injury, in a continuous series of 19 patients collected in a 5-year study.

High-resolution ultrasound of peripheral nerves in late-onset hereditary transthyretin amyloidosis with polyneuropathy: similarities and differences with CIDP.

Introduction: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) remains a diagnostic challenge due to clinical, neurophysiological, and laboratory findings suggestive of other diagnoses, particularly chronic inflammatory demyelinating polyneuropathy (CIDP). In this cross-sectional prospective study, we aimed to investigate the utility of high-resolution ultrasonography of peripheral nerves as a diagnostic tool to differentiate ATTRv-PN from CIDP.

Methods: In 11 treatment-naive patients with genetically confirmed late-onset ATTRv-PN and 25 patients with CIDP, we collected clinical, electrodiagnostic, and high-resolution ultrasonography data of the peripheral nerves.

Changes of clinical, neurophysiological and nerve ultrasound characteristics in CIDP over time: a 3-year follow-up.

Objectives: To evaluate, in a prospective study, high-resolution ultrasound (HRUS) changes of nerve segments in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and their relationships with clinical and electrodiagnostic (EDX) characteristics.

Methods: Twenty-three consecutive patients with CIDP were included in a 3-year follow-up (FU) study. Each patient underwent neurologic examination, EDX and HRUS study.

Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients.

Myastenia-Inflammatory Myopathy (MG-IM) association has been described in less than 50 cases, as isolated reports or in few case series. In most cases, MG and IM onset occur simultaneously even if the overlapping clinical manifestations could lead to delay the diagnosis in the early stage of disease. In these cases, thymic pathology is present in more than 50% of cases.

Nerve high-resolution ultrasonography in peripheral nerve injuries associated with supracondylar humeral fractures in children.

To evaluate nerve high-resolution ultrasonography (HRUS) as diagnostic tool in children with supracondylar humeral fractures (SHF)-related peripheral nerve injuries (PNIs), we selected at least one illustrative case for each upper limb nerve usually involved in SHF (i.e. median, radial and ulnar nerve), in which HRUS evaluation added a useful contribution in diagnostic and therapeutic choices.

Nerve high-resolution ultrasonography in tangier disease.

Introduction: Tangier disease (TD) is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein and accumulation of cholesterol esters in peripheral nerves and other tissues. The aim of this study was to evaluate whether nerve high-resolution ultrasonography (HRUS) can detect morphological nerve changes in TD.

Methods: Three related patients of a previously reported Italian family with Tangier disease, carrying the Y1698X mutation in ABCA1, underwent clinical, neurophysiological, and quantitative nerve HRUS evaluation.

A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre.

Cardiac conduction and/or rhythm abnormalities (CCRA) are the most frequent and life-threatening complications in DM1. In order to determine prevalence, incidence, characteristics, age of onset and predictors of CCRA, CCRA progression and sudden cardiac death (SCD) in DM1, we collected ECG/24hECG-Holter data from a yearly updated 34-year database of a cohort of 103 DM1 patients without cardiac abnormalities at baseline, followed for at least 1 year. Fifty-five patients developed CCRA [39 developed conduction abnormalities (CCA) and 16 rhythm abnormalities (CRA)], which progressed in 22.

Peripheral nerve ultrasound changes in CIDP and correlations with nerve conduction velocity.

Objective: To evaluate the ultrasound (US) characteristics of peripheral nerves in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and their correlations with electrodiagnostic (EDX) characteristics.

Methods: Nineteen patients with CIDP and 19 healthy controls matched by age and body mass index were included in a blind case-control, observational study. All patients underwent a neurologic examination (including inflammatory neuropathy cause and treatment [INCAT] and Medical Research Council [MRC] sum score) and an EDX study.

Magnetic resonance imaging contribution for diagnosing symptomatic neurovascular contact in classical trigeminal neuralgia: a blinded case-control study and meta-analysis.

Although classical trigeminal neuralgia (CTN) is frequently caused by neurovascular contact (NVC) at the trigeminal root entry zone (REZ), both anatomical and MRI studies have shown that NVC of the trigeminal nerve frequently occurs in individuals without CTN. To assess the accuracy of MRI in distinguishing symptomatic from asymptomatic trigeminal NVC, we submitted to high-definition MRI the series of CTN patients referred to our outpatient service between June 2011 and January 2013 (n=24), and a similar number of age-matched healthy controls. Two neuroradiologists, blinded to the clinical data, evaluated whether the trigeminal nerve displayed NVC in the REZ or non-REZ, whether it was dislocated by the vessel or displayed atrophy at the contact site, and whether the offending vessel was an artery or a vein.

Home care for brain tumor patients.

Background: Brain tumor patients are quite different from other populations of cancer patients due to the complexity of supportive care needs, the trajectory of disease, the very short life expectancy, and resulting need for a specific palliative approach.

Methods: A pilot program of comprehensive palliative care for brain tumor patients was started in the Regina Elena National Cancer Institute of Rome in October 2000, supported by the Lazio Regional Health System. The aim of this model of assistance was to meet patient's needs for care in all stages of disease, support the families, and reduce the rehospitalization rate.

Hypogonadism in DM1 and its relationship to erectile dysfunction.

Myotonic dystrophy type 1 (DM1) is characterized by both a premature appearance of age-related phenotypes and multiple organ involvement, which affects skeletal and smooth muscle as well as the eye, heart, central nervous system, and endocrine system. Although erectile dysfunction (ED) is a frequent complaint in patients with DM1, it has not been investigated in great depth. Hypogonadism, which is reported to be one of the physical causes of ED in the general population, frequently occurs in DM1.

Systematic review of pregnancy-related carpal tunnel syndrome.

The reported incidence of pregnancy-related carpal tunnel syndrome (PRCTS) ranges from 0.8% to 70%, and little is known of its natural history. We systematically reviewed the reported incidence of PRCTS and evaluated its natural history.

Neutralizing antibodies against endogenous interferon in myasthenia gravis patients.

Anti-cytokine antibodies (Abs) play an important role in the regulation of the immune response, both under normal conditions and in several autoimmune and neoplastic disorders. In the present study, we have investigated the occurrence and the clinical significance of natural neutralizing Abs (NAbs) against interferons (IFNs) alpha, beta, and gamma, as detected by bioassay, in 52 patients with myasthenia gravis (MG), and 43 sex- and age-matched healthy individuals. Patients showing titres > or = 1.