Body Schema Self-Awareness and Related Dream Content Modifications in Amputees Due to Cancer.

Purpose: the evaluation of body image perception, pain coping strategies, and dream content, together with phantom limb and telescoping phenomena in patients with sarcoma who underwent surgery for limb amputation.

Material And Methods: consecutive outpatients were evaluated at T0 (within 3 weeks after surgery) and T1 (4-6 months after surgery) as follows: demographic and clinical data collection; the Groningen Questionnaire Problems after Arm Amputation; the West Haven-Yale Multidimensional Pain Inventory; the Body Image Concern Inventory, a clinical trial to identify telescoping; and a weekly diary of dreams. Dream contents were coded according to the Hall and Van de Castle coding system.

Sleep on a high heat capacity mattress increases conductive body heat loss and slow wave sleep.

Environmental temperature can strongly affect sleep. The habitual sleep phase is usually located between evening decline and morning rise of the circadian rhythm of core body temperature (CBT). However, the thermophysiological mechanisms promoting or disturbing sleep are not yet fully understood.

Clinical and functional prediction of moderate to severe obstructive sleep apnoea.

Introduction: Upper airway inflammation and narrowing are characteristics of obstructive sleep apnoea (OSA). Inflammatory markers have been found to be increased in exhaled breath and induced sputum of patients with OSA.

Objectives: The aim of this study was to investigate if the measurement of exhaled nitric oxide (F(ENO) ), as marker of airway inflammation, together with the forced mid-expiratory/mid-inspiratory airflow ratio (FEF(50) /FIF(50) ), as marker of upper airway narrowing, may help to predict OSA.

Progranulin expression in brain tissue and cerebrospinal fluid levels in multiple sclerosis.

Background: Progranulin (PGRN) is a fundamental neurotrophic factor, and is also involved in inflammation and wound repair. PGRN may have pro- or anti-inflammatory properties, depending upon proteolysis of the anti-inflammatory parent PGRN protein and the generation of pro-inflammatory granulin peptides.

Objectives: Our objectives were as follows: (1) to evaluate the presence and distribution of PGRN in multiple sclerosis (MS) brain tissue, correlating it with demyelination and inflammation; (2) to evaluate cerebrospinal fluid (CSF) PGRN concentrations in patients with MS and controls, in relationship to the clinical features of the disease.

Sexual behaviors during sleep associated with polysomnographically confirmed parasomnia overlap disorder.

Parasomnia overlap disorder (POD) refers to a sleep disorder characterized by the association of REM sleep behavior disorder (RBD) with NREM sleep parasomnia in the same patient. Sexual behaviors during sleep (SBS) can include most wakeful sexual activities and are classified in the ICSD-2 as a variant of confusional arousals and sleepwalking, both NREM parasomnias. A case of SBS associated with sleepwalking and possible RBD has been previously described, but it was not confirmed by polysomnography (PSG).

Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study.

Granulocyte colony-stimulating factor (G-CSF) induces a transient mobilization of hematopoietic progenitor cells from bone marrow to peripheral blood. Our aim was to evaluate safety of repeated courses of G-CSF in patients with amyotrophic lateral sclerosis (ALS), assessing disease progression and changes in chemokine and cytokine levels in serum and cerebrospinal fluid (CSF). Twenty-four ALS patients entered an open-label, multicenter trial in which four courses of G-CSF and mannitol were administered at 3-month intervals.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Objective: To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations.

Design: Population-based, prospective cohort study.

Patients: A total of 135 Sardinian patients with ALS and 156 healthy control subjects of Sardinian origin who were age- and sex-matched to patients.

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

Background: TAR DNA-binding protein 43, encoded by the TARDBP gene, has been identified as the major pathological protein of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the TARDBP gene have been detected in 2% to 3% of patients with ALS (both familial and sporadic ALS). However, to our knowledge, there is only 1 description of 2 patients with FTLD and TARDBP gene mutations who later developed motor neuron disease.

Tracheostomy in amyotrophic lateral sclerosis: a 10-year population-based study in Italy.

We evaluated the clinical characteristics and outcome of tracheostomy in amyotrophic lateral sclerosis (ALS) using data from the Piemonte and Valle d'Aosta Register for ALS, a prospective epidemiological register collecting all ALS incident cases in two Italian regions. Among the 1260 patients incident in the period 1995-2004, 134 (10.6%) underwent tracheostomy.

Lower serum lipid levels are related to respiratory impairment in patients with ALS.

Background: Recently hyperlipidemia was reported to be related to a significantly better outcome in amyotrophic lateral sclerosis (ALS). To investigate this, we evaluated the status of blood lipids in a large Italian series of patients with ALS, and assessed the effect of hyperlipidemia on patients' survival.

Methods: The study population included 658 patients with ALS consecutively observed in 2 Italian ALS centers between 2000 and 2006.

Neuropsychological and functional study in a case of partial cerebellar agenesis.

Cerebellar agenesis is a rare disorder. We present the neurological and neuropsychological features of a patient with partial cerebellar agenesis (TZ), together with SPECT perfusion and fMRI activation during a finger tapping task. TZ shows only mild cerebellar signs, while neuropsychological testing discloses severe deficits in many domains, in accordance with the theorized role of the cerebellum in cognition.

Demyelination, inflammation, and neurodegeneration in multiple sclerosis deep gray matter.

Gray matter (GM) lesions are recognized as important components of the pathology of multiple sclerosis (MS), and involvement of the deep gray matter (DGM) is suggested by magnetic resonance imaging. The aims of this study were to determine the frequency and distribution of lesions and characterize the inflammatory and neurodegenerative changes in DGM of MS patients. Histochemistry, immunohistochemistry, and morphometry were performed on whole coronal sections of 14 MS and 12 control (6 normal, 6 from amyotrophic lateral sclerosis patients) brains.

Comorbidity between CIDP and diabetes mellitus: only a matter of chance?

Background And Purpose: It is well known that chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetes mellitus (DM) are often associated, but it is not clear if these two disorders are patogenetically correlated.

Methods: An epidemiological study on CIDP in two Italian regions (population 4,334,225) was performed, using multiple concurrent sources of cases. The presence of DM was assessed on basis of the data reported in the clinical records of each patient.

Double step paraneoplastic brainstem encephalitis: a clinicopathological study.

A case of brainstem encephalitis in a man positive for both anti-Hu and anti-Ri antibodies is reported. This case had an unusual double step evolution and progressive involvement of different CNS subdivisions at MRI. Brainstem encephalitis developed abruptly, mimicking a posterior vascular deficit with vertigo and dizziness.

ALS in Italian professional soccer players: the risk is still present and could be soccer-specific.

We previously found an increased risk for ALS in Italian professional soccer players actively engaged between 1970 and 2001 (n =7325). The present study extends previous work with a prospective follow-up of the original cohort to 2006 and investigates the risk of ALS in two other cohorts of professional athletes, basketball players (n =1973) and road cyclists (n =1701). Standardized morbidity ratios (SMRs) were calculated.

Epidemiology of ALS in Italy: a 10-year prospective population-based study.

Objective: To describe the temporal patterns of incidence and demographic characteristics of amyotrophic lateral sclerosis (ALS) in Piemonte and Valle d'Aosta, Italy, in the 10-year period 1995 through 2004.

Methods: The Piemonte and Valle d'Aosta Register for ALS (PARALS) is a prospective register collecting all cases of ALS incident in two regions of northwestern Italy (population: 4,332,842) since 1995. The cases are identified using several concurrent sources.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance.

Anti-brain antibodies in adult patients with obsessive-compulsive disorder.

Background: An autoimmune hypothesis has been suggested for a subtype of Obsessive-Compulsive Disorder (OCD) with childhood onset: obsessions, compulsions and/or tics would result from anti-streptococcal antibodies that cross-react with basal ganglia tissue based on molecular mimicry. Consistent with this hypothesis anti-brain antibodies were detected in sera of children with OCD and/or Tourette's syndrome. In the present study, we tested whether adults with OCD have anti-brain antibodies or other antibodies that serve as markers of autoimmunity.

Multiple sclerosis relapses: a multivariable analysis of residual disability determinants.

Background: Recovery from multiple sclerosis (MS) relapses is variable. The factors influencing persistence of residual disability (RD) after a relapse are still to be thoroughly elucidated.

Aims Of Study: To assess RD after MS relapses and to define the factors associated with persistence of RD.

Involvement of the choroid plexus in multiple sclerosis autoimmune inflammation: a neuropathological study.

An immunological function has been proposed for the choroid plexus (CP). In multiple sclerosis (MS) brains, CPs show (immunohistochemistry to HLA-DR, CD3, CD20, CD68, VCAM-1, CD138) T lymphocytes in vessels and stroma, VCAM-1 expression on endothelia, intense HLA-DR immunostaining on cells in CP stroma, among CP epithelium and on epiplexus cells. CPs in control or amyotrophic lateral sclerosis brains do not show such inflammatory changes.

Prevalence of SOD1 mutations in the Italian ALS population.

Background: Five to 10% of amyotrophic lateral sclerosis (ALS) cases are reported to be familial (FALS), and mutations of SOD1 account for 20% of these cases. However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts.

Objective: To assess the frequency and nature of SOD1 mutations in a large population-based cohort of Italian patients diagnosed with ALS over a 6-year period.

ALS patients and caregivers communication preferences and information seeking behaviour.

To evaluate information preferences and information seeking behaviour in ALS patients and caregivers. Sixty ALS patients and caregivers couples were interviewed using a structured questionnaire about the content of diagnosis communication and their information seeking behaviour. The patients (35 men and 25 women) had a mean age of 63.

Altered glutamate reuptake in relapsing-remitting and secondary progressive multiple sclerosis cortex: correlation with microglia infiltration, demyelination, and neuronal and synaptic damage.

Cortical involvement in multiple sclerosis (MS) is emerging as an important determinant of disease progression. The mechanisms responsible for MS cortical pathology are not fully characterized. The objective of this study was to assess the role of excitotoxicity in MS cortex, evaluating excitatory amino acid transporter (EAAT) expression and its relationship with demyelination, inflammation, gliosis, and neuronal and synaptic pathology.

Diuretics in obstructive sleep apnea with diastolic heart failure.

Background: Upper airway edema might contribute to pharyngeal collapsibility and account for the high prevalence of obstructive sleep apnea (OSA) in patients with heart disease. The aim of this study was to evaluate if intensive unloading with diuretics improves sleep-disordered breathing and increases pharyngeal caliber in patients with severe OSA and diastolic heart failure.

Methods: Fifteen patients with severe OSA, hypertension, and diastolic heart failure were hospitalized to receive IV furosemide, 20 mg, and spironolactone, 100 mg, bid for 3 days.