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1.
J Gambl Stud ; 38(2): 627-634, 2022 Jun.
Article in English | MEDLINE | ID: mdl-34213750

ABSTRACT

Gambling disorder (GD) is a form of behavioral addiction. In recent years, it has been suggested that the application of transcranial Direct Current Stimulation (tDCS) to the dorsolateral prefrontal cortex (DLPFC), which plays a key role in top-down inhibitory control and impulsivity, may represent a new therapeutic approach for treating addictions. Here we investigated the effectiveness of a novel low dose tDCS protocol (i.e. six sessions of right anodal/left cathodal tDCS for 20 min, with a current intensity of 1 mA) applied to DLPFC in a patient with GD. To evaluate the effect of the proposed intervention, cognitive, psychological and behavioural evaluations were performed at different time points, pre and post intervention. The results showed improvement of impulsivity, decision making, and cognitive functioning after tDCS intervention. Findings of the present study suggest that low doses of right anodal/left cathodal tDCS to DLPFC may effectively improve gambling behaviour. They also suggest to carefully evaluate the effects of this tDCS polarity on the patient's emotional state. The current protocol warrants further investigation in large groups of patients, as it may provide relevant insights into the design of effective, low dose treatments of gambling disorder.


Subject(s)
Gambling , Transcranial Direct Current Stimulation , Decision Making/physiology , Dorsolateral Prefrontal Cortex , Gambling/psychology , Humans , Impulsive Behavior , Prefrontal Cortex/physiology , Transcranial Direct Current Stimulation/methods
2.
Heliyon ; 5(11): e02770, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31799459

ABSTRACT

Previous studies suggest that low-frequency repetitive Transcranial Magnetic Stimulation (rTMS) over contralateral premotor cortex (PMC) might ameliorate Focal Hand Dystonia (FHD) symptoms. In the present study behavioral and muscle activity outcomes were explored in a patient with FHD following a single and multiple sessions of rTMS. The patient's behavior was assessed on handwriting tasks, while surface EMG signals were recorded. In Experiment 1 evaluations were performed before and after one session of active and sham 1Hz rTMS over contralateral PMC. In Experiment 2, evaluations were performed before and after six sessions of the same treatment. In Experiment 1 active rTMS improved the patient's performance, although the EMG amplitude did not change. In Experiment 2, the patient showed an improvement of performance along with a decrease of 20% in the EMG amplitude. These results demonstrated that a single session of rTMS ameliorated the patient's performance, while multiple sessions were necessary to reduce muscles activity.

6.
Hum Mutat ; 31(10): 1117-24, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20725928

ABSTRACT

Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. We screened 366 primarily Caucasian ADCA families, negative for the most common triplet expansions, for point mutations in AFG3L2 using DHPLC. Whole-gene deletions were excluded in 300 of the patients, and duplications were excluded in 129 patients. We found six missense mutations in nine unrelated index cases (9/366, 2.6%): c.1961C>T (p.Thr654Ile) in exon 15, c.1996A>G (p.Met666Val), c.1997T>G (p.Met666Arg), c.1997T>C (p.Met666Thr), c.2011G>A (p.Gly671Arg), and c.2012G>A (p.Gly671Glu) in exon 16. All mutated amino acids were located in the C-terminal proteolytic domain. In available cases, we demonstrated the mutations segregated with the disease. Mutated amino acids are highly conserved, and bioinformatic analysis indicates the substitutions are likely deleterious. This investigation demonstrates that SCA28 accounts for ∼3% of ADCA Caucasian cases negative for triplet expansions and, in extenso, to ∼1.5% of all ADCA. We further confirm both the involvement of AFG3L2 gene in SCA28 and the presence of a mutational hotspot in exons 15-16. Screening for SCA28, is warranted in patients who test negative for more common SCAs and present with a slowly progressive cerebellar ataxia accompanied by oculomotor signs.


Subject(s)
ATP-Dependent Proteases/genetics , Cerebellar Ataxia/epidemiology , Mutation, Missense , ATP-Dependent Proteases/chemistry , ATPases Associated with Diverse Cellular Activities , Adolescent , Adult , Aged , Cerebellar Ataxia/ethnology , Cerebellar Ataxia/genetics , Cerebellar Ataxia/pathology , Child , Child, Preschool , Computational Biology , Europe/epidemiology , Female , Genes, Dominant , Humans , Infant , Male , Middle Aged , Models, Molecular , Pedigree , Prevalence , Spinocerebellar Ataxias/congenital , Spinocerebellar Degenerations/epidemiology , Spinocerebellar Degenerations/ethnology , Spinocerebellar Degenerations/genetics , Spinocerebellar Degenerations/pathology , White People , Young Adult
7.
Hepatogastroenterology ; 49(45): 631-4, 2002.
Article in English | MEDLINE | ID: mdl-12063957

ABSTRACT

BACKGROUND/AIMS: Helicobacter pylori (H. pylori) infection has been associated with several vascular obstructive disorders. The infection induces the production of proinflammatory cytokines that could increase platelet aggregates in circulation. The aim of this case-controlled study was to evaluate the prevalence of H. pylori infection in patients with acute ischemic stroke not related to cardiac causes. METHODOLOGY: A group of 80 consecutive patients (58 males, age range: 49-65 years) with acute ischemic stroke was studied. All patients received a cranial CT and/or brain magnetic resonance imaging scan, extracranial vessel duplex ultrasonography, and transthoracic echocardiography. H. pylori infection was diagnosed by means of both 13C urea breath test and IgG antibodies to H. pylori. A group of 320 blood donors (232 males and 88 females, age range: 49-65 years) matched for sex and age served as controls. Among the patients, we investigated the presence of hypertension, cholesterol and glucose levels in serum, fibrinogen in plasma and the smoking habit. RESULTS: The presence of H. pylori infection was higher in patients than in controls: 64/80 (80%) versus 190/320 (59.4%) (P < 0.001); when analyzed for sex in 45/58 (77.5%) among male patients and in 139/232 (59.9%) among controls (P < 0.05); of the females 19 out of 22 (86.3%) patients were infected at variance with only 51/88 (57.9%) of the controls (P < 0.05). Classical risk factors for stroke did not differ among patients with and without H. pylori infection. H. pylori infection was not differently associated with current smoking, serum total cholesterol and glucose levels, fibrinogen value in plasma and hypertension when compared to the H. pylori-negative status. CONCLUSIONS: H. pylori infection appears to be significantly more frequent in middle-aged patients with acute ischemic stroke than in controls.


Subject(s)
Brain Ischemia/microbiology , Helicobacter Infections/complications , Helicobacter pylori , Aged , Case-Control Studies , Causality , Female , Humans , Male , Middle Aged
8.
Liver Transpl ; 8(7): 630-5, 2002 Jul.
Article in English | MEDLINE | ID: mdl-12089718

ABSTRACT

The aim of this study is to evaluate the role of spectral electroencephalogram (EEG) analysis ((S)EEG) in quantitating brain dysfunction in cirrhotic patients, showing conditions of minimal hepatic encephalopathy (HE), and determining the impact of orthotopic liver transplantation (OLT) on its correction. (S)EEG was compared with visual EEG ((V)EEG) in 44 cirrhotic patients waiting for OLT and 44 healthy controls. Eighteen patients had overt HE, and 26 patients had no apparent HE. Twenty-one transplant recipients were reexamined 6 months after OLT. Computerized (S)EEG was performed by mean dominant frequency (MDF) and the occipital alpha-theta ratio, expressed as its logarithmic transformation (LogR). All patients underwent psychometric assessment. MDF and LogR correlated significantly with Child-Pugh score (P <.05) and the presence of HE (P <.0001). (S)EEG and (V)EEG determined minimal HE in 8 (31%) and 6 (23%) of 26 patients without overt HE, respectively. (S)EEG did not correlate with age, sex, cause of liver disease, portal hypertension, or psychometric test results. MDF and LogR improved in many transplant recipients. LogR was significantly lower in OLT candidates who died before OLT compared with OLT survivors. In conclusion, (S)EEG provides reliable quantitative information to evaluate the degree of HE and appears more sensitive than (V)EEG to discriminate a subclinical stage of HE. The improvement in (S)EEG results observed in transplant recipients confirms the reversibility of bioelectric brain dysfunction with restoration of liver functions.


Subject(s)
Electroencephalography , Hepatic Encephalopathy/physiopathology , Liver Transplantation , Adolescent , Adult , Female , Hepatic Encephalopathy/surgery , Humans , Liver Transplantation/physiology , Male , Middle Aged , Psychometrics , Sensitivity and Specificity
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