Search results for "Neurologi"

D-TMS IN COCAINE ADDICTION: PRELIMINARY FINDINGS

2013

Drug addiction is a brain disease which leads to profound disturbances in an individual’s behaviour. In spite of the progress made in the understanding of the neurobiological mechanisms underlying addiction, expectations from a therapeutic point of view have not been satisfying. Given the modest efficacy of therapeutic tools available, Transcranial Magnetic Stimulation (TMS) seems to be a promising “non-pharmacologic” aid in various neuropathologies(1) including addiction(2) which is characterized by a decrease of dopaminergic activity (DA)(3-4). Thus, ‘restoring’ pre-pathology DA activity may yield clinical benefits in addicts(5). In particular, it has been reported(6) that TMS reduces the…

D-TMS IN COCAINE ADDICTION: preliminary findings

2015

Cocaine-related disorders are currently among the most devastating mental disease as they leads to profound disturbances in an individual’s behaviour resulting in tremendous economic, social, and moral costs. Imaging studies in human have shown a reduction of dopamine (DA) receptors accompanied by a lesser release of endogenous DA in the ventral striatum (AVT) of cocaine subjects thereby resulting in a ‘dopamine-impoverished’ brain[1-2]. This perturbations lead to neuroadpatations in several other circuits which are related to motivation, inhibitory control, and memory which finally determ compulsive-impulsive self drug administration[3]. The lasting reduction in physiological activity of t…

Neuromodulation of chronic headaches: position statement from the European Headache Federation

2013

The medical treatment of patients with chronic primary headache syndromes (chronic migraine, chronic tension-type headache, chronic cluster headache, hemicrania continua) is challenging as serious side effects frequently complicate the course of medical treatment and some patients may be even medically intractable. When a definitive lack of responsiveness to conservative treatments is ascertained and medication overuse headache is excluded, neuromodulation options can be considered in selected cases.Here, the various invasive and non-invasive approaches, such as hypothalamic deep brain stimulation, occipital nerve stimulation, stimulation of sphenopalatine ganglion, cervical spinal cord sti…

Focal DNA Copy Number Changes in Neuroblastoma Target MYCN Regulated Genes

2013

Neuroblastoma is an embryonic tumor arising from immature sympathetic nervous system cells. Recurrent genomic alterations include MYCN and ALK amplification as well as recurrent patterns of gains and losses of whole or large partial chromosome segments. A recent whole genome sequencing effort yielded no frequently recurring mutations in genes other than those affecting ALK. However, the study further stresses the importance of DNA copy number alterations in this disease, in particular for genes implicated in neuritogenesis. Here we provide additional evidence for the importance of focal DNA copy number gains and losses, which are predominantly observed in MYCN amplified tumors. A focal 5 kb…

Mitochondrial DNA TRNACYS mutation in a family with frontotemporal dementia and Parkinson’s disease

2010

Use of drugs for attrv amyloidosis in the real world: How therapy is changing survival in a non-endemic area

2021

Background: Over the past decade, three new drugs have been approved for the treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim of this work was to analyze whether current therapies prolong survival for patients affected by ATTRv amyloidosis. Methods: The study was conducted retrospectively, analyzing the medical records of 105 patients with genetic diagnoses of familial amyloidotic polyneuropathy followed at the two referral centers for the disease in Sicily, Italy. Of these, 71 received disease-modifying therapy, while 34 received only symptomatic treatment or no therapy. Results: The most used treatment in our patient cohort was tafamidis, followed by liver tra…

Modulation of higher-order olfaction components on executive functions in humans

2015

The prefrontal (PFC) and orbitofrontal cortex (OFC) appear to be associated with both executive functions and olfaction. However, there is little data relating olfactory processing and executive functions in humans. The present study aimed at exploring the role of olfaction on executive functioning, making a distinction between primary and more cognitive aspects of olfaction. Three executive tasks of similar difficulty were used. One was used to assess hot executive functions (Iowa Gambling Task-IGT), and two as a measure of cold executive functioning (Stroop Colour and Word Test-SCWT and Wisconsin Card Sorting Test-WCST). Sixty two healthy participants were included: 31 with normosmia and …

2-Hydroxyoleic Acid Induces ER Stress and Autophagy in Various Human Glioma Cell Lines

2012

Background: 2-Hydroxyoleic acid is a synthetic fatty acid with potent anti-cancer activity which does not induce undesired side effects. However, the molecular and cellular mechanisms by which this compound selectively kills human glioma cancer cells without killing normal cells is not fully understood. The present study was designed to determine the molecular bases underlying the potency against 1321N1, SF-767 and U118 human glioma cell lines growth without affecting non cancer MRC-5 cells. Methodology/Principal Findings: The cellular levels of endoplasmic reticulum (ER) stress, unfolded protein response (UPR) and autophagy markers were determined by quantitative RT-PCR and immunoblotting …

A genetic study on the role of thiamine transporters in a case of atrophic Beri-Beri

2011

A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

2004

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…