A Linear Predictor Based on FTIR Spectral Biomarkers Improves Disease Diagnosis Classification: An Application to Multiple Sclerosis.

Multiple sclerosis (MS) is a neurodegenerative disease of the central nervous system that can lead to long-term disability. The diagnosis of MS is not simple and requires many instrumental and clinical tests. Sampling easily collected biofluids using spectroscopic approaches is becoming of increasing interest in the medical field to integrate and improve diagnostic procedures.

ATR-FTIR spectroscopy of plasma supported by multivariate analysis discriminates multiple sclerosis disease.

Multiple sclerosis (MS) is one of the most common neurodegenerative diseases showing various symptoms both of physical and cognitive type. In this work, we used attenuated total reflection Fourier transformed infrared (ATR-FTIR) spectroscopy to analyze plasma samples for discriminating MS patients from healthy control individuals, and identifying potential spectral biomarkers helping the diagnosis through a quick non-invasive blood test. The cohort of the study consists of 85 subjects, including 45 MS patients and 40 healthy controls.

On the extreme hydrologic events determinants by means of Beta-Singh-Maddala reparameterization.

In previous studies, beta-k distribution and distribution functions strongly related to that, have played important roles in representing extreme events. Among these distributions, the Beta-Singh-Maddala turned out to be adequate for modelling hydrological extreme events. Starting from this distribution, the aim of the paper is to express the model as a function of indexes of hydrological interest and simultaneously investigate on their dependence with a set of explanatory variables in such a way to explore on possible determinants of extreme hydrologic events.

Diffusivity of cerebellar hemispheres enables discrimination of cerebellar or parkinsonian multiple system atrophy from progressive supranuclear palsy-Richardson syndrome and Parkinson disease.

Purpose: To explore the usefulness of histogram analysis of mean diffusivity (MD) derived from diffusion-weighted imaging of large infratentorial structures to distinguish parkinsonian syndromes.

Materials And Methods: Local research ethics committee approval and informed consent were obtained. Ten patients with Parkinson disease (PD), nine with the parkinsonian variant of multiple system atrophy (MSA-P), seven with the cerebellar variant of MSA (MSA-C), 17 with progressive supranuclear palsy-Richardson syndrome (PSP-RS), and 10 healthy subjects were recruited.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

Objective: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with the aim to investigate the frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy.

Methods: We assessed the PolyQ lengths of ATXN-1 and ATXN-2 in 405 patients with sALS, 13 patients with fALS, and 296 unrelated controls without history of neurodegenerative disorders.

Blink reflex recovery cycle in patients with essential tremor associated with resting tremor.

Objective: An increased R2 recovery component of the blink reflex (R2-BRrc) has been commonly observed in Parkinson disease, cranio-cervical dystonia, and dystonic tremor, while the BRrc was reported normal in patients with essential tremor (ET). We studied BRrc in patients with ET associated with resting tremor (rET) in comparison with patients with ET.

Methods: This was a cross-sectional study investigating R2-BRrc at interstimulus intervals (ISI) of 100, 150, 200, 300, 400, 500, and 750 msec in 14 patients with rET, 14 patients with ET, and 16 healthy controls.

FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS).

MRI measurements predict PSP in unclassifiable parkinsonisms: a cohort study.

Objective: Magnetic resonance parkinsonism index (MRPI) has been proposed as a powerful tool to discriminate patients with progressive supranuclear palsy (PSP) from those with Parkinson disease (PD) or other parkinsonisms, on an individual basis. We investigated the usefulness of MRPI in predicting the clinical evolution in PSP of patients with clinically unclassifiable parkinsonism (CUP), i.e.

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.

A splice site variation (c.603-91G>A or rs3812718) in the SCN1A gene has been claimed to influence efficacy and dose requirements of carbamazepine and phenytoin. We investigated the relationship between c.

Rating scale for psychogenic nonepileptic seizures: scale development and clinimetric testing.

Our aim was to develop a clinimetric scale evaluating motor phenomena, associated features, and severity of psychogenic nonepileptic seizures (PNES). Sixty video/EEG-recorded PNES induced by suggestion maneuvers were evaluated. We examined the relationship between results from this scale and results from the Clinical Global Impression (CGI) scale to validate this technique.

NOS2A as a candidate gene in Relapsing-Remitting Multiple Sclerosis: a haplotype study using selected subsets of single nucleotide polymorphisms.

As with other autoimmune diseases, susceptibility to multiple sclerosis (MS) is believed to result from the complex interaction of a number of genes, each with modest effect. Several genome-wide screens have implicated the nitric oxide synthase 2A gene (NOS2A), which encodes the inducible form of nitric oxide synthase, as being potentially associated with MS. To determine whether genetic variants within this gene may constitute a risk factor for causing MS, we investigated 13 single nucleotide polymorphisms in the NOS2A gene, in a case-control group of 214 Italian patients with MS and 121 controls.

Accuracy of magnetic resonance parkinsonism index for differentiation of progressive supranuclear palsy from probable or possible Parkinson disease.

Background: Combined measurements on conventional magnetic resonance imaging (MRI), such as midbrain area/pons area or magnetic resonance parkinsonism index (MRPI) (pons area/midbrain area × middle cerebellar peduncle width/superior cerebellar peduncle width), have been proposed as powerful tools in the differential diagnosis between progressive supranuclear palsy (PSP) and Parkinson disease (PD). In this study, we evaluated the accuracy of MRPI, compared with midbrain/pons ratio, in distinguishing PSP from probable and possible PD.

Methods: Forty-two PSP patients, 170 probable PD patients, 132 possible PD patients, and 38 control subjects underwent MRI and, for each patient, midbrain/pons ratio and MRPI were calculated.

Patterns of brain atrophy in Parkinson's disease, progressive supranuclear palsy and multiple system atrophy.

Background And Purpose: Quantitative analysis of brain atrophy may be useful in differentiating Parkinson's Disease (PD) from Progressive Supranuclear Palsy (PSP) and parkinsonian variant of Multiple System Atrophy (MSA-P); the aim of this study was to identify the volumetric differences of subcortical structures in patients with PD, PSP and MSA-P using a novel and validated fully-automated whole brain segmentation method.

Methods: Volumetric MRIs were obtained in 72 patients with PD, 32 patients with PSP, 15 patients with MSA-P, and in 46 control subjects. Subcortical volume was measured automatically by FreeSurfer.

Synchronous pattern distinguishes resting tremor associated with essential tremor from rest tremor of Parkinson's disease.

Rest tremor associated with essential tremor (ET) is a condition that poses challenges in diagnosing Parkinson's disease (PD). We investigated tremor parameters in PD and ET patients with rest tremor. Fifteen patients with PD and 15 patients with ET underwent electrophysiological examination to evaluate characteristics of muscle bursting in rest postures.

Malnutrition, infection and arteriovenous fistula failure: is there a link?

Introduction: The histology of neointimal hyperplasia, the primary cause of arteriovenous fistula (AVF) stenosis, resembles the histology of atherosclerosis. We evaluated classic atherogenic risk factors such as hypertension, smoking, diabetes, cholesterol, and evaluated the role of expanded risk factors such as: cytomegalovirus (CMV), Helicobacter pylori (H. pylori), Chlamydia pneumoniae (C.

Abnormal pressure waves in headache sufferers with bilateral transverse sinus stenosis.

Introduction: Bilateral transverse sinus stenosis (BTSS) has been reported to be associated with idiopathic intracranial hypertension without papilloedema in headache sufferers.

Subjects And Methods: To test the accuracy of short-term cerebrospinal fluid (CSF) pressure monitoring through a lumbar needle for detection of elevated intracranial pressure in headache sufferers with BTSS, we prospectively performed lumbar puncture in order to measure lumbar CSF opening pressures and to monitor, for 1 h, the CSF pressure in 48 consecutive headache sufferers with BTSS and in 50 consecutive headache sufferers with normal appearance of transverse sinuses or stenosis of one transverse sinus.

Results: Of the 48 headache sufferers with BTSS, 18 (37.

Age at onset predicts good seizure outcome in sporadic non-lesional and mesial temporal sclerosis based temporal lobe epilepsy.

Purpose: To study prognosis and prognostic predictors of sporadic non-lesional temporal lobe epilepsy (TLE).

Method: 474 patients with TLE were consecutively seen from April 1987 to April 2004. 190 had a sporadic non-lesional TLE and a follow-up longer than 2 years.

An magnetic resonance imaging T2*-weighted sequence at short echo time to detect putaminal hypointensity in Parkinsonisms.

At 1.5 T, T2*-weighted gradient echo (GE) sequences are more sensitive in revealing mineral deposition in the basal ganglia than standard T2 weighted sequences. T2*-weighted GE sequences, however, may detect putaminal hypointensities either in patients affected by parkinsonian syndromes or in healthy subjects.

Diffusion tensor MRI changes in cerebellar structures of patients with familial essential tremor.

Objective: The aim of our study was to investigate the microstructural integrity of brain regions functionally involved in the tremor loop in patients with familial essential tremor (FET), using diffusion tensor imaging (DTI).

Methods: Twenty-five patients with FET, 15 patients with Parkinson disease (PD), and 15 healthy subjects were studied. DTI was performed to measure fractional anisotropy (FA) and mean diffusivity (MD) in various regions of interest: red nucleus, dentate nucleus (DN), cerebellar white matter, middle (MCP) and superior cerebellar peduncle (SCP), and ventrolateral thalamus.

Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study.

Objective: To prospectively assess the frequency of mesiotemporal abnormalities seen on brain MRI in healthy subjects in comparison with patients with temporal lobe epilepsy (TLE).

Methods: Ninety-nine consecutive patients (48 women, mean age 36.1 +/- 16.

DJ-1 is a Parkinson's disease susceptibility gene in southern Italy.

Mutations in the gene DJ-1 have been shown to be a rare cause of early-onset Parkinson's disease (EOPD). Since DJ-1 mutations have been found in patients with Parkinson's disease (PD) from southern Italy, we aimed to investigate whether polymorphisms within the DJ-1 gene could represent a risk factor for sporadic PD. First, we genotyped 294 patients with PD and 298 controls coming from southern Italy to assess the distribution of the insertion/deletion (Ins/Del) polymorphism.

Combined use of DAT-SPECT and cardiac MIBG scintigraphy in mixed tremors.

The cooccurrence of rest and postural tremor (mixed tremor) as the predominant clinical manifestation in patients who do not fulfill diagnostic established criteria for essential tremor (ET) or Parkinson's disease (PD) poses a clinical diagnostic challenge. Twenty-two patients with mixed tremor and additional mild extrapyramidal features, such as bradykinesia and rigidity, 20 patients with probable PD, 10 patients with probable ET, and 18 controls were investigated through the combined use of dopamine transporter (123)I-FP-CIT-single-photon emission tomography (DAT-SPECT) and cardiac (123)metaiodobenzylguanidine (MIGB) scintigraphy. Six of the 22 mixed-tremor patients had normal DAT-SPECT, a condition usually found in patients with ET, whereas 16 patients showed damage to the nigrostriatal system.

Cognitive deficits in multiple sclerosis patients with cerebellar symptoms.

Background: Cerebellar dysfunction is common in patients with multiple sclerosis (MS). However, neuropsychological studies of this clinical feature are lacking.

Objective: We investigate the neuropsychological features in relapsing-remitting MS (RR-MS) patients with and without cerebellar dysfunction.

CASP-9: A susceptibility locus for multiple sclerosis in Italy.

Caspase-9 is a primary effector CASP that executes programmed cell death, which plays an important role in the development of multiple sclerosis (MS). Polymorphisms in the CASP-9 gene may influence its activity, thereby modulating the susceptibility to MS. To test this hypothesis, we evaluated a SNP in the CASP-9 gene in a set of Italian patients from Southern Italy and healthy control subjects.