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1.
Funct Neurol ; 32(3): 153-158, 2017.
Article in English | MEDLINE | ID: mdl-29042004

ABSTRACT

Gerstmann-Sträussler-Scheinker syndrome (GSS) is an inherited autosomal dominant prion disease, caused by a codon 102 proline to leucine substitution (P102L) in the prion protein gene (PRNP). We describe the case of a 40-year-old male, affected by a slowly progressive gait disturbance, leg weakness and cognitive impairment. Genomic DNA revealed a point mutation of PRNP at codon 102, resulting in P102L, and the diagnosis of GSS was confirmed. Somatosensory evoked potentials showed alterations of principal parameters, particularly in the right upper and lower limbs. Laser-evoked potentials were indicative of nociceptive system impairment, especially in the right upper and lower limbs. Conventional magnetic resonance imaging (MRI) revealed marked atrophy of the vermis and cerebellar hemispheres and mild atrophy of the middle cerebellar peduncles and brainstem, as confirmed by a brain volume automatic analysis. Resting-state functional MRI showed increased functional connectivity in the bilateral visual cortex, and decreased functional connectivity in the bilateral frontal pole and supramarginal and precentral gyrus. Albeit limited to a single case, this is the first study to assess structural and functional connectivity in GSS using a multimodal approach.


Subject(s)
Brain/pathology , Brain/physiopathology , Gerstmann-Straussler-Scheinker Disease/pathology , Gerstmann-Straussler-Scheinker Disease/physiopathology , Adult , Biomarkers , Brain/diagnostic imaging , Brain Mapping , Electroencephalography , Gerstmann-Straussler-Scheinker Disease/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male
2.
J Laryngol Otol ; 130(5): 453-61, 2016 May.
Article in English | MEDLINE | ID: mdl-26931794

ABSTRACT

OBJECTIVE: Olfactory dysfunction is a possible side effect of chemo-radiotherapy performed in patients affected by nasopharyngeal carcinoma. Self-rating measurements and olfactory event-related potentials were used and compared in order to evaluate the impact of this treatment on the olfactory system. METHODS: Nine patients underwent subjective evaluation of olfactory function (using visual analogue scales for olfactory symptoms and quality of life, and a six-item Hyposmia Rating Scale), and a quantitative and objective measurement (olfactory event-related potentials). RESULTS: Spearman's rank correlation analyses highlighted significant relationships between the clinical scales and olfactory event-related potentials. Inter-group analyses showed significant differences in the latency and in the amplitude of olfactory event-related potentials between patients and controls. CONCLUSION: Taking into account the small sample size and the lack of pre-treatment assessment, olfactory event-related potentials seemed to allow a more objective diagnosis of unilateral and bilateral olfactory loss. Moreover, olfactory event-related potentials and subjective scales results were concordant.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Chemoradiotherapy/methods , Evoked Potentials/physiology , Nasopharyngeal Neoplasms/therapy , Olfaction Disorders/diagnosis , Radiotherapy, Intensity-Modulated/adverse effects , Smell/physiology , Adult , Carcinoma , Chemoradiotherapy/adverse effects , Cisplatin/administration & dosage , Docetaxel , Fluorouracil/administration & dosage , Humans , Male , Middle Aged , Nasopharyngeal Carcinoma , Olfaction Disorders/etiology , Olfaction Disorders/physiopathology , Surveys and Questionnaires , Taxoids/administration & dosage
3.
Brain Inj ; 29(12): 1467-74, 2015.
Article in English | MEDLINE | ID: mdl-26362906

ABSTRACT

PRIMARY OBJECTIVE: The aim of this study is to assess if laser evoked potentials (LEPs) examination should be considered as an objective evidence of potential or residual pain perception capacity in vegetative (VS) and minimally conscious state (MCS) patients and if it could be a feasible methodology in order to differentiate these two clinical entities. RESEARCH DESIGN: This is a cross-sectional observational study focusing on the role of LEP examination, which is an easy and objective neurophysiological approach of the nociceptive system. METHODS AND PROCEDURES: Thirteen VS and 10 MCS patients were enrolled. All subjects were evaluated clinically by using validated behavioural scales and underwent to upper and lower limbs LEP recording. MAIN OUTCOMES AND RESULTS: Intra-group LEPs analysis in VS patients highlighted significant differences for N2P2 latency (p = 0.036) and amplitude (p = 0.018). Inter-group LEPs analysis showed significant differences in post-anoxic condition for N2P2 latency (p = 0.034), amplitude (p = 0.034) and a trend in N2P2 latency in brain trauma (p = 0.07). Interestingly, correlation analysis showed a significant relationship between N2P2 amplitude and Coma Recovery Scale-Revised scoring in the post-traumatic VS (r = 0.823, p = 0.044). CONCLUSIONS: The findings lead to detection of potential markers of conscious pain perception in patients with DOC, with important impact on therapeutic and rehabilitative management, and provide new information that may allow a better differential diagnosis.


Subject(s)
Nociceptors/physiology , Pain Measurement/methods , Persistent Vegetative State/diagnosis , Adult , Aged , Brain Injuries/diagnosis , Coma , Cross-Sectional Studies , Female , Humans , Laser-Evoked Potentials/physiology , Male , Middle Aged , Nociceptors/metabolism , Pain Measurement/statistics & numerical data , Patient Outcome Assessment , Recovery of Function
4.
Neurocase ; 20(2): 225-9, 2014 Apr.
Article in English | MEDLINE | ID: mdl-23548099

ABSTRACT

Our objective was to assess the role of Intrathecal Baclofen Therapy (ITB) in the cortical reorganization in a patient affected by multiple sclerosis (MS) undergoing physical therapy. We reported a case of a woman affected by MS and severe spasticity, who performed an fMRI examination, before and after the ITB implantation. The subject showed controlateral motor cortex activation after motor task. After a month of ITB implantation, patient showed ipsilateral and controlateral motor cortex activation although with a broader extension. fMRI examination supported the hypothesis of a central influence in patients who undergo physiotherapy and therapy with ITB.


Subject(s)
Baclofen/therapeutic use , Brain/drug effects , GABA-B Receptor Agonists/therapeutic use , Motor Cortex/drug effects , Multiple Sclerosis/drug therapy , Brain/physiopathology , Brain Mapping , Female , Humans , Injections, Spinal , Magnetic Resonance Imaging , Middle Aged , Motor Activity/drug effects , Motor Cortex/physiopathology
5.
Minerva Cardioangiol ; 48(12 Suppl 1): 15-20, 2000 Dec.
Article in Italian | MEDLINE | ID: mdl-11253335

ABSTRACT

Pulmonary embolism (PE) represents the third more frequent cardiovascular disease following the acute coronary artery disease and stroke. The most important predisposing clinical condition for PE is represented by the deep-vein thrombosis. The clinical diagnosis of PE has a very low accuracy; so the clinical suspect has to be necessarily directed towards the performance of diagnostic procedures. Among the most used procedures, the echocardiography has a diagnostic role but also a prognostic one. Moreover, it offers precious informations useful to perform the most suitable treatment. The echocardiography features which suggest the presence of pulmonary embolism are: right ventricle and atrium dilatation, right ventricular hypokinesia, systolic flattening of the interventricular septum, tricuspid regurgitation, pulmonary artery dilatation, disappearance or reduction of the inspiratory collapse of the inferior vena cava and presence of eventual embolic sources. According to the involvement degree of right ventricular function, it is generally possible to identify a different survival. The subgroup of patients with moderate or severe right ventricular dysfunction shows a high in hospital and within 1 year death rate. For this reason the right ventricular dysfunction degree together with the hemodynamic stability, are the most important parameters in the therapeutic choice. If there is no right ventricular dysfunction a treatment with heparin is indicated. In presence of right ventricular dysfunction and hemodynamic instability, the thrombolytic treatment is necessary. If the patient is hemodynamically stable, a transesophageal echocardiography is recommended; in case of central thrombosis the thrombolytic therapy or surgery are needed, while if no embolic material is shown the heparin treatment is advisable.


Subject(s)
Echocardiography , Pulmonary Embolism/diagnosis , Aged , Anticoagulants/therapeutic use , Female , Fibrinolytic Agents/therapeutic use , Follow-Up Studies , Hemodynamics , Heparin/therapeutic use , Humans , Hypertension, Pulmonary/complications , Hypertension, Pulmonary/diagnosis , Male , Prognosis , Pulmonary Embolism/drug therapy , Pulmonary Embolism/mortality , Pulmonary Embolism/physiopathology , Risk Factors , Survival Analysis , Time Factors , Tricuspid Valve Insufficiency/complications , Tricuspid Valve Insufficiency/diagnosis , Venous Thrombosis/complications , Venous Thrombosis/diagnosis , Ventricular Dysfunction, Right/complications , Ventricular Dysfunction, Right/diagnosis
6.
Res Commun Chem Pathol Pharmacol ; 71(3): 259-71, 1991 Mar.
Article in English | MEDLINE | ID: mdl-2047572

ABSTRACT

Chronic treatment with alprazolam reversed the effect of acute stress on the concentration of immunoreactive beta-endorphin (IR-BE) in the anterior pituitary (AP) and increased the amount of beta-endorphin (BE) relative to beta-lipotropin (B-LPH). In chronically stressed animals, administration of alprazolam did not alter the effect of a single stressful episode on the concentration of IR-BE in the AP, the NIL or the plasma, however, the amount of BE relative to B-LPH was increased in the AP and the plasma. Administration of alprazolam resulted in a significant decrease in the perception of pain. A low dose of alprazolam produced the most consistent decrease in nociception over time. The present findings suggest that alprazolam may modify the effects of acute and chronic stress on BE release from the pituitary. Moreover, alprazolam appears to have an antinociceptive effect in addition to its affect as an anxiolytic.


Subject(s)
Alprazolam/pharmacology , Analgesics/pharmacology , beta-Endorphin/physiology , Animals , Anxiety/drug therapy , Male , Neurosecretory Systems/drug effects , Neurosecretory Systems/physiology , Nociceptors/drug effects , Nociceptors/physiology , Rats , Rats, Inbred Strains , Stress, Physiological/drug therapy
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