| 1. |
- Nicolas, Aude, et al.
(författare)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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Ingår i: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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| 2. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Castelnuovo, Gianluca, et al.
(författare)
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What Is the Role of the Placebo Effect for Pain Relief in Neurorehabilitation? : Clinical Implications From the Italian Consensus Conference on Pain in Neurorehabilitation
- 2018
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Ingår i: Frontiers in Neurology. - : Frontiers Media SA. - 1664-2295. ; 9
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Forskningsöversikt (refereegranskat)abstract
- Background: It is increasingly acknowledged that the outcomes of medical treatments are influenced by the context of the clinical encounter through the mechanisms of the placebo effect. The phenomenon of placebo analgesia might be exploited to maximize the efficacy of neurorehabilitation treatments. Since its intensity varies across neurological disorders, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCP) summarized the studies on this field to provide guidance on its use.Methods: A review of the existing reviews and meta-analyses was performed to assess the magnitude of the placebo effect in disorders that may undergo neurorehabilitation treatment. The search was performed on Pubmed using placebo, pain, and the names of neurological disorders as keywords. Methodological quality was assessed using a pre-existing checklist. Data about the magnitude of the placebo effect were extracted from the included reviews and were commented in a narrative form.Results: 11 articles were included in this review. Placebo treatments showed weak effects in central neuropathic pain (pain reduction from 0.44 to 0.66 on a 0-10 scale) and moderate effects in postherpetic neuralgia (1.16), in diabetic peripheral neuropathy (1.45), and in pain associated to HIV (1.82). Moderate effects were also found on pain due to fibromyalgia and migraine; only weak short-term effects were found in complex regional pain syndrome. Confounding variables might have influenced these results.Clinical implications: These estimates should be interpreted with caution, but underscore that the placebo effect can be exploited in neurorehabilitation programs. It is not necessary to conceal its use from the patient. Knowledge of placebo mechanisms can be used to shape the doctor-patient relationship, to reduce the use of analgesic drugs and to train the patient to become an active agent of the therapy.
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| 4. |
- Dakanalis, Antonios, et al.
(författare)
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Body-image distortion in anorexia nervosa
- 2016
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Ingår i: NATURE REVIEWS DISEASE PRIMERS. - : Springer Science and Business Media LLC. - 2056-676X. ; 2
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Dakanalis, Antonios, et al.
(författare)
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Predictors of initiation and persistence of recurrent binge eating and inappropriate weight compensatory behaviors in college men
- 2016
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Ingår i: International Journal of Eating Disorders. - : Wiley. - 0276-3478 .- 1098-108X. ; 49:6, s. 581-590
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveThe transition to college is considered as a risk period for the development of behavioral symptoms of eating disorders (BSEDs) and some evidence suggests that, amongst men, these symptoms occurring on a regular basis remain relatively stable over the college period. Nevertheless, little is known about factors associated with persistent engagement in and initiation of recurrent (or regular) binge eating and inappropriate weight compensatory behaviors in this population. The objective of this report was to address these research gaps. MethodData were examined from 2,555 male first-year college students who completed an assessment of potential vulnerability factors and BSEDs at the beginning of the autumn semester (baseline) and nine months later (end of the spring semester; follow-up). ResultsElevated negative affectivity, body dissatisfaction, self-objectification, and lower self-esteem at baseline were predictive of persistent engagement in regular binge eating and four compensatory behaviors (self-induced vomiting, laxative/diuretic abuse, fasting, exercise) at follow-up, as well as initiation of all these behaviors occurring regularly (i.e., at least weekly for 3 months). Self-objectification (thinking and monitoring the body's outward appearance from a third-person perspective) emerged as the largest contributor of both the initiation and persistence of all behavioral symptoms. DiscussionData emphasize that the same psychological factors underlie initiation and persistence of recurrent BSEDs and should shape the focus of future interventions for college men.
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| 7. |
- Asciutto, Giuseppe, et al.
(författare)
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Long-term progression of contralateral carotid artery disease after endarterectomy: is there a need for Duplex surveillance?
- 2012
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Ingår i: International Angiology. - 1827-1839. ; 31:4, s. 361-367
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Tidskriftsartikel (refereegranskat)abstract
- AIM: The aim of this paper was to define the incidence of disease progression of the contralateral internal carotid artery (CICA) in patients undergoing carotid endarterectomy (CEA) and to identify factors influencing disease progression. METHODS: Patients from our primary catchment area that had undergone CEA between 2002 and 2005 were included. The study cohort was divided in four groups based on the preoperative stenosis grade (normal ICA <40%, N.=56; mild 40-60%, N.=41; moderate 61-80%, N.=12; severe 81-99%, N.=7). Patients initially planned or already submitted to contralateral CEA or with contralateral occlusion were excluded. RESULTS: One hundred and seventeen patients were analysed. Disease progression occurred in 13 (11%) patients after a mean of 47.6 months (SD 1.6 months). A moderate preoperative CICA stenosis was associated with disease progression (P=0.017). Late neurologic events referable to the CICA independently of progression occurred in 13 (11%) patients. There were 4 (30.7%) events in the 13 carotids with progression and only 9 (7%) in the 117 without progression (P=0.060). .Moderate and severe preoperative CICA stenosis and renal insufficiency were associated with postoperative ipsilateral neurological symptoms (P=0.001 and 0.009, respectively). CONCLUSION: Disease progression of the CICA after CEA is not uncommon. The preoperative degree of CICA stenosis is related to subsequent disease progression and to the occurrence of symptoms. More studies are needed to identify risk factors influencing the progression of ICA disease.
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