Serotonin impairment in CSF of PD patients, without an apparent clinical counterpart.

In Parkinson's disease (PD), several studies have detected an impaired serotonin (5-HT) pathway, likely affecting both motor and non-motor domains. However, the precise impact of 5-HT impairment is far from established. Here, we have used a HPLC chromatographic method, in a homogenous cohort (n = 35) of non fluctuating, non dyskinetic PD patients, to assess the concentration of 5-HT and its metabolite 5-HIAA in peripheral cerebrospinal fluid (CSF) obtained from lumbar puncture (LP).

CSF beta-amyloid levels are altered in narcolepsy: a link with the inflammatory hypothesis?

Narcolepsy is characterized by hypocretin deficiency due to the loss of hypothalamic orexinergic neurons, and is associated with both the human leucocyte antigen DQB1*06:02 and the T cell receptor polymorphism. The above relationship suggests autoimmune/inflammatory processes underlying the loss of orexinergic neurons in narcolepsy. To test the autoimmune/inflammatory hypothesis by means of cerebrospinal fluid (CSF) levels of beta-amyloid1-42 and/or total tau proteins in a sample of narcoleptic patients, we analysed 16 narcoleptic patients and 16 healthy controls.

Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study.

No data are available regarding the occurrence of sleep disorders in spinal and bulbar muscular atrophy (SBMA). We investigated the sleep-wake cycle in SBMA patients compared with healthy subjects. Nine SBMA outpatients and nine age-matched and sex-matched healthy controls were evaluated.

Dark blood versus bright blood T2 acquisition in cardiovascular magnetic resonance (CMR) for thalassaemia major (TM) patients: evaluation of feasibility, reproducibility and image quality.

Objectives: To compare the effectiveness of dark blood (DB) versus bright blood (BB) sequences. To assess the intra and inter-observer variability and inter-study reproducibility between BB versus DB. To evaluate image quality level in the two sequences.

Italian registry of cardiac magnetic resonance.

Objectives: Forty sites were involved in this multicenter and multivendor registry, which sought to evaluate indications, spectrum of protocols, impact on clinical decision making and safety profile of cardiac magnetic resonance (CMR).

Materials And Methods: Data were prospectively collected on a 6-month period and included 3376 patients (47.2 ± 19 years; range 1-92 years).

Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires.

Background And Purpose: There is a paucity of data available regarding the occurrence of sleep disorders in myotonic dystrophy type 2 (DM2). In this study the sleep-wake cycle and daytime sleepiness were investigated in DM2 patients and compared with results from healthy subjects and myotonic dystrophy type 1 (DM1) patients.

Methods: Twelve DM2 outpatients, 12 age- and sex-matched healthy controls and 18 DM1 patients were recruited.

Relationship between myocardial T2 values and cardiac volumetric and functional parameters in β-thalassemia patients evaluated by cardiac magnetic resonance in association with serum ferritin levels.

Purpose: Myocardial T2 cardiovascular magnetic resonance provides a rapid and reproducible assessment of cardiac iron load in thalassemia patients. Although cardiac involvement is mainly characterized by left ventricular dysfunction caused by iron overload, little is known about right ventricular function. The aim of this study was to assess the relationship between T2 value in myocardium and left-right ventricular volumetric and functional parameters and to evaluate the existing associations between left-right ventricles volumetric and functional parameter, myocardial T2 values and blood ferritin levels.

Paucisymptomatic Marchiafava-Bignami disease with relevant diffusion-weighted MRI lesions.

Marchiafava-Bignami disease (MBD) is a rare alcohol-associated disorder characterized by demyelization and necrosis of the corpus callosum. Diffusion-weighted (DW) MRI may reveal the lesions in patients showing serious clinical manifestations, high mortality rate and severe cognitive sequelae, though some cases with good outcome have been reported. We describe a case of a man with a history of chronic alcohol abuse associated with malabsorption; the man presented mild clinical signs on the first neurological exam, despite the presence of DW-MRI lesions, bilaterally involving entire corpus callosum, that are compatible with MBD diagnosis.

Structural analysis and Caco-2 cell permeability of the celiac-toxic A-gliadin peptide 31-55.

Celiac disease is a chronic enteropathy caused by the ingestion of wheat gliadin and other cereal prolamines. The synthetic peptides 31-43 (P31-43) and 31-49 (P31-49) from A-gliadin are considered to be model peptides for studying innate immunity in celiac disease. Our previous study demonstrated that P31-43 and P31-49 are encrypted within peptide 31-55 (P31-55), which is naturally released from gastropancreatic digestion and is not susceptible to hydrolysis by brush border membrane enzymes.

Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies.

Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterized by progressive myopathy, myotonia, and multiorgan involvement. Two genetically distinct entities have been identified, myotonic dystrophy type 1 (DM1 or Steinert's Disease) and myotonic dystrophy type 2 (DM2). Myotonic dystrophies are strongly associated with sleep dysfunction.

Spasticity as an ictal pattern due to excitotoxic upper motor neuron damage.

We describe the case of a man who presented with spasticity and aphasia related to continuous electroencephalographic epileptic activity in the left frontal-temporal regions. Magnetic resonance imaging (MRI) documented in diffusion-weighted images (DWI) two areas of restricted diffusion in the left frontal and temporal cortex. After starting treatment with levetiracetam 3000 mg/day there was progressive recovery of the clinical picture as well as the gradual disappearance of the electroencephalographic seizure activity and the vanishing of areas of restricted diffusion in brain MRI.

Cardiac silhouette findings and mediastinal lines and stripes: radiograph and CT scan correlation.

Despite the increased use of CT imaging, chest radiography remains a very important diagnostic modality in the evaluation of lung parenchymal and mediastinal diseases, providing a vast amount of useful information. This information is generally derived from the relationships among the normal anatomic structures of the mediastinum, pleura, and lungs, which represent the basis of the "cardiac silhouette" and "mediastinal lines-and-stripes" concepts that potentially play an important role in the establishment of a diagnosis or a spectrum of diagnoses before proceeding to CT imaging. The capability of recognizing an abnormal chest radiograph on the basis of the displacement, deformation, or obscuration of one of these structures when compared with those in normal findings is often mandatory prior to requesting a potentially useful CT scan examination.

Coronary artery bypass grafts and MDCT imaging: what to know and what to look for.

Multi-detector row CT (MDCT) scanners with high spatial and temporal resolutions are now available and are increasingly used for non-invasive assessment of vascular disease, including coronary arteries and coronary artery bypass grafts (CABG). Follow-up of patients who have previously undergone surgical revascularization for coronary artery disease is nowadays one of the main applications of MDCT. Thanks to the continuous technical evolution of the CT scanners, it is now possible to scan the heart and the full anatomic extent of grafts with sub-millimeter slice-thickness within a single breath-hold.

Expression of ATP7B in normal human liver.

ATP7B is a copper transporting P-type ATPase, also known as Wilson disease protein, which plays a key role in copper distribution inside cells. Recent experimental data in cell culture have shown that ATP7B putatively serves a dual function in hepatocytes: when localized to the Golgi apparatus, it has a biosynthetic role, delivering copper atoms to apoceruloplasmin; when the hepatocytes are under copper stress, ATP7B translocates to the biliary pole to transport excess copper out of the cell and into the bile canaliculus for subsequent excretion from the body via the bile. The above data on ATP7B localization have been mainly obtained in tumor cell systems in vitro.

Mitral prosthetic inflow mimicking severe aortic regurgitation.

We describe two patients in whom mitral valve prosthetic inflow mimicked severe aortic regurgitation. Repeat transthoracic echocardiography using multiple transducer angulations and a narrow color Doppler sector angle in one patient and a color Doppler M-Mode study in the second patient proved useful in excluding the presence of severe aortic regurgitation.