Algorithms for computer-aided diagnosis of dementia based on structural MRI have demonstrated high performance in the literature, but are difficult to compare as different data sets and methodology were used for evaluation. In addition, it is unclear how the algorithms would perform on previously unseen data, and thus, how they would perform in clinical practice when there is no real opportunity to adapt the algorithm to the data at hand. To address these comparability, generalizability and clinical applicability issues, we organized a grand challenge that aimed to objectively compare algorithms based on a clinically representative multi-center data set. Using clinical practice as starting point, the goal was to reproduce the clinical diagnosis. Therefore, we evaluated algorithms for multi-class classification of three diagnostic groups: patients with probable Alzheimer’s disease, patients with mild cognitive impairment and healthy controls. The diagnosis based on clinical criteria was used as reference standard, as it was the best available reference despite its known limitations. For evaluation, a previously unseen test set was used consisting of 354 T1-weighted MRI scans with the diagnoses blinded. Fifteen research teams participated with in total 29 algorithms. The algorithms were trained on a small training set (n=30) and optionally on data from other sources (e.g., the Alzheimer’s Disease Neuroimaging Initiative, the Australian Imaging Biomarkers and Lifestyle flagship study of aging). The best performing algorithm yielded an accuracy of 63.0% and an area under the receiver-operating-characteristic curve (AUC) of 78.8%. In general, the best performances were achieved using feature extraction based on voxel-based morphometry or a combination of features that included volume, cortical thickness, shape and intensity. The challenge is open for new submissions via the web-based framework: http://caddementia.grand-challenge.org.
The FAB is a useful tool for the screening of executive dysfunction in PD, showing good discriminant and concurrent validities. Normative data provided for the Portuguese version of this test improve the accuracy and confidence in the clinical use of the FAB.
. Twenty-four patients and 25 controls performed emotion recognition tasks for music and spoken sentences. In music, patients had impaired recognition of happiness and peacefulness, and intact recognition of sadness and fear; this pattern was independent of general cognitive and perceptual abilities. In speech, patients had a small global impairment which was significantly mediated by executive dysfunction.Hence, PD affected differently musical and prosodic emotions. This dissociation indicates that the mechanisms underlying the two domains are partly independent.
Parkinson’s disease is a common and often debilitating disorder, with a growing prevalence accompanying global population aging. Current drug therapy is not satisfactory enough for many patients, especially after a few years of symptom progression. This is mainly due to the motor complications that frequently emerge as disease progresses. Deep brain stimulation (DBS) is a useful therapeutic option in carefully selected patients that significantly improves motor symptoms, functional status, and quality of life. However, cognitive impairment may limit patient selection for DBS, as patients need to have sufficient mental capabilities in order to understand the procedure, as well as its benefits and limitations, and cooperate with the medical team throughout the process of selection, surgery, and postsurgical follow-up. On the other hand it has been observed that certain aspects of cognitive performance may decline after DBS, namely when the therapeutic target is the widely used subthalamic nucleus. These are important pieces of information for patients, their families, and health care professionals. This manuscript reviews these aspects and their clinical implications.
Our results suggest that both the choroidal and retinal macula are altered in Huntington's disease and may become useful biomarkers for monitoring neurodegeneration in this disease. The involvement of the choroid may also support the recent findings of vascular involvement in Huntington's disease.
Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG) n distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, 'homozygosity' that can pose a serious ethical dilemma, carriers of large normal alleles, and 'homoallelism' for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing.
Chronic bilateral subthalamic stimulation (DBS-STN) provides considerable clinical benefits in Parkinson disease patients, with improvement in primary symptoms and resolution of side effects of chronic pharmacological treatment. Apart from its therapeutic effects on PD symptoms, DBS-STN also appears to induce weight gain, which may itself induce critical metabolic disorders and limit the benefits of surgery. No data are available in literature showing the efficacy of a nutritional intervention to prevent rapid and/or excessive weight gain after DBSSTN. Fifty-seven PD patients were included in this study and were divided into two groups: Group 1 comprised 16 patients with a nutritional intervention immediately after surgery (1 week after); Group 2 comprised 41 patients with a nutritional intervention in a later period after surgery (mean time of 2.5 ± 1.6 years). Weight, body mass index (BMI), percentage of fat mass, levodopa daily dose (LDD) and part III of the Unified Parkinson's disease rating scale (UPDRS) were studied before and after an individualized and structured nutritional intervention. Three months after nutritional intervention, Group 1 had a mean BMI (24.1 ± 2.99), that was not significantly different (p = 0.114) from BMI before intervention, with stability of the weight and in percentage of fat mass. In Group 2 all the patients gained weight, reaching to 13.17 ± 10%; a total of 63% of patients became overweight (BMI 25 kg/m(2)). Three months after nutritional intervention, Group 2 had a mean BMI (24.80 ± 2.45) that was significantly (p = 0.03) different from BMI before intervention (26.75 ± 2.99), although percentage of fat mass was higher in women. With this study, we have conclude that nutritional intervention adequate to patient-age, disease characteristics, medical therapy with L-dopa and physical activity, is effective incontrolling weight after DBS-STN surgery.
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