To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency toward a greater response to levodopa despite lower doses. After forward stepwise multiple logistic regression analysis, dystonia at onset and brisk reflexes were not longer significantly different but were correlated with age at onset rather than the presence of the parkin mutation. Age at onset in carriers of parkin mutations varied as did the rate of progression of the disease: the younger the age at onset the slower the evolution. The genotype influenced the phenotype: carriers of at least one missense mutation had a higher United Parkinson's Disease Rating Scale motor score than those carrying two truncating mutations. The localization of the mutations was also important because missense mutations in functional domains of parkin resulted in earlier onset. Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations.
Objective: To investigate cognitive and behavioural effects of bilateral lead implants for high frequency stimulation (HFS) of the subthalamic nucleus in patients with Parkinson's disease; and to discriminate between HFS and the effects of surgical intervention on cognitive function by carrying out postoperative cognitive assessments with the stimulators turned on or off. Methods: Motor, cognitive, behavioural, and functional assessments were undertaken in 20 patients with Parkinson's disease before implantation and then at three, six, and 12 months afterwards. Nine patients were also examined 18 months after surgery. Postoperative cognitive assessments were carried out with stimulators turned off at three and 18 months, and turned on at six and 12 months. Results: Cognitive assessment showed a significant postoperative decline in performance on tasks of letter verbal fluency (across all postoperative assessments, but more pronounced at three months) and episodic verbal memory (only at three months, with stimulators off). At three, six, and 12 months after surgery, there was a significant improvement in the mini-mental state examination and in a task of executive function (modified Wisconsin card sorting test). On all postoperative assessments, there was an improvement in parkinsonian motor symptoms, quality of life, and activities of daily living while off antiparkinsonian drugs. A significant postoperative decrease in depressive and anxiety symptoms was observed across all assessments. Similar results were seen in the subgroup of nine patients with an 18 month follow up. Following implantation, three patients developed transient manic symptoms and one showed persistent psychic akinesia. Conclusions: Bilateral HFS of the subthalamic nucleus is a relatively safe procedure with respect to long term cognitive and behavioural morbidity, although individual variability in postoperative cognitive and behavioural outcome invites caution. Stimulation of the subthalamic nucleus does not per se appear to impair cognitive performance in patients with Parkinson's disease and may alleviate the postpoperative decline in verbal fluency.
Owing to the lack of instruments specifically constructed to study emotional and affective disorders of stroke patients, the nature of post-stroke depression (PSD) remains controversial. With this in mind, the authors constructed a new scale, the Post-Stroke Depression Scale (PSDS) which takes into account a series of symptoms and problems commonly observed in depressed stroke patients. The PSDS and the Hamilton Depression Rating Scale (HDS) were administered to a group of 124 patients, who had been classified, on the basis of DSM III-R diagnostic criteria, in the following categories: No depression (n = 32); Minor PSD (n = 47); Major PSD (n = 45). Scores obtained by these stroke patients on the PSDS and on the HDS were compared to those obtained on the same scales by 17 psychiatric patients also classified as major depression on the basis of DSM III-R diagnostic criteria. An analysis of the symptomatological profiles clearly showed that: (1) a continuum exists between the so-called "major" and "minor" forms of PSD; (2) in both groups of depressed stroke patients the depressive symptomatology seems due to the psychological reaction to the devastating consequences of stroke, since the motivated aspects of depression prevailed in depressed stroke patients, whereas the (biologically determined) unmotivated aspects prevailed in patients with a functional form of major depression; and (3) in stroke patients a DSM III-based diagnosis of major PSD could be in part inflated by symptoms (such as apathy and vegetative disorders) that are typical of major depression in a patient free from brain damage, but that could be due to the brain lesion per se in a stroke patient.
We have conducted a case-control study in order to test for an association between 8 intragenic polymorphisms of 5 iron-related genes (transferrin, transferrin receptor1, HFE, frataxin and lactoferrin) and Parkinson disease. Comparison of genotypes and allele frequencies did not differ significantly between cases and controls for all studied polymorphisms except the G258S transferrin polymorphism, for which a higher frequency of the G allele was found among cases (p=0.033), particularly among cases with onset older than 60 (p=0.0017) and with negative family history (p=0.022). This finding suggests that genetic variations in the control of iron metabolism may contribute to the pathogenesis of the disease.
The paper describes the SemEval-2022 Task 5: Multimedia Automatic Misogyny Identification (MAMI),which explores the detection of misogynous memes on the web by taking advantage of available texts and images. The task has been organised in two related sub-tasks: the first one is focused on recognising whether a meme is misogynous or not (Sub-task A), while the second one is devoted to recognising types of misogyny (Sub-task B). MAMI has been one of the most popular tasks at SemEval-2022 with more than 400 participants, 65 teams involved in Sub-task A and 41 in Sub-task B from 13 countries. The MAMI challenge received 4214 submitted runs (of which 166 uploaded on the leader-board), denoting an enthusiastic participation for the proposed problem. The collection and annotation is described for the task dataset. The paper provides an overview of the systems proposed for the challenge, reports the results achieved in both sub-tasks and outlines a description of the main errors for a comprehension of the systems capabilities and for detailing future research perspectives.
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