Long-Term Efficacy of Prism Adaptation on Spatial Neglect: Preliminary Results on Different Spatial Components

This study describes the long-term effectiveness on spatial neglect recovery of a 2-week treatment based on prism adaptation (PA). Seven right-brain-damaged patients affected by chronic neglect were evaluated before, after two weeks of the PA treatment and at a follow-up (variable between 8 and 30 months after the end of PA). Neglect evaluation was performed by means of BIT (conventional and behavioral), Fluff Test, and Comb and Razor Test. The results highlight an improvement, after the PA training, in both tasks performed using the hand trained in PA treatment and in behavioral tasks not requiring a manual motor response. Such effects extend, even if not significantly, to all BIT subtests. These results support previous findings, showing that PA improves neglect also on imagery tasks with no manual component, and provide further evidence for long-lasting efficacy of PA training. Dissociations have been found with regard to PA efficacy on peripersonal, personal, and representational neglect, visuospatial agraphia and neglect dyslexia. In particular, we found no significant differences between the pre-training and post-training PA session in personal neglect measures, and a poor recovery of neglect dyslexia after PA treatment. The recruitment of a larger sample could help to confirm the effectiveness of the prismatic lenses with regard to the different clinical manifestations of spatial neglect

A Novel null homozygous mutation confirms <i>CACNA2D2</i> as a gene mutated in epileptic encephalopathy

Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In the same family, a rare CELSR3 polymorphism also segregated with disease. Involvement of CACNA2D2 in EE is therefore not confirmed, while that of CELSR3 is questionable. In a patient with epilepsy, dyskinesia, cerebellar atrophy, psychomotor delay and dysmorphic features, offspring to consanguineous parents, we performed whole exome sequencing (WES) for homozygosity mapping and mutation detection. WES identified extended autozygosity on chromosome 3, containing two novel homozygous candidate mutations: c.1295delA (p.Asn432fs) in CACNA2D2 and c.G6407A (p.Gly2136Asp) in CELSR3. Gene prioritization pointed to CACNA2D2 as the most prominent candidate gene. The WES finding in CACNA2D2 resulted to be statistically significant (p = 0.032), unlike that in CELSR3. CACNA2D2 homozygous c.1295delA essentially abolished α2δ-2 expression. In summary, we identified a novel null CACNA2D2 mutation associated to a clinical phenotype strikingly similar to the Cacna2d2 null mouse model. Molecular and statistical analyses together argued in favor of a causal contribution of CACNA2D2 mutations to EE, while suggested that finding in CELSR3, although potentially damaging, is likely incidental

La realidad virtual como entorno fortalecedor para el cambio personal: la contribución del laboratorio de tecnología aplicada a la neuropsicología

When we exercise real choice, we gain increased control over our lives and are able to change ourselves. However for many subjects it is not easy to exercise effective choices: patients often don’t have the knowledge, skills, assertiveness, or self esteem needed. In this situation Virtual Reality (VR), an artificial reality that projects the user into a 3D space generated by the computer, may offer a critical advantage to the therapist. The enriched experience and the total level of control on its features, transform VR in an “empowering environment”, where patients can start to explore and act without feeling actually threatened. The attempt of defining, developing and testing VR tools supporting personal empowerment is the main goal of the Applied Technology for Neuro-Psychology Laboratory –ATN-P Lab– at the Istituto Auxologico Italiano. The paper describes the actual work done by the ATN-P Lab. in this area. Specifically, the open source "NeuroVR" system and its potential clinical applications –anxiety disorders, obesity and eating disorders– are presented and discussed.La capacidad de elección nos proporciona control sobre nuestras vidas y nos ofrece posibilidades de cambio. Sin embargo, para muchas personas no es fácil realizar elecciones efectivas; por ejemplo, los pacientes carecen muchas veces del conocimiento, la habilidad, la asertividad o autoestima necesarias. En esas situaciones, la realidad virtual (RV), una realidad artificial que coloca al sujeto en un espacio generado por el ordenador, puede ser para el terapeuta un recurso decisivo. La experiencia enriquecida y el control total sobre todos sus aspectos transforman la RV en un “entorno fortalecedor”, en el que los pacientes pueden comenzar a explorar y actuar sin sentirse amenazados. El principal objetivo del “Applied Technology for Neuro-Psychology Laboratory” (ATN-P Lab), perteneciente al Instituto Auxologico Italiano, es intentar definir, desarrollar y probar aplicaciones basadas en RV que faciliten el fortalecimiento personal. En este artículo se describe el trabajo que se viene realizando sobre este tema en ese laboratorio. Se presenta y discute, específicamente, el sistema de código abierto denominado “NeuroVR”, así como sus aplicaciones clínicas potenciales sobre los trastornos de ansiedad, la obesidad y los trastornos alimentarios

La realidad virtual como entorno fortalecedor para el cambio personal: la contribución del laboratorio de tecnología aplicada a la neuropsicología

When we exercise real choice, we gain increased control over our lives and are able to change ourselves. However for many subjects it is not easy to exercise effective choices: patients often don’t have the knowledge, skills, assertiveness, or self esteem needed. In this situation Virtual Reality (VR), an artificial reality that projects the user into a 3D space generated by the computer, may offer a critical advantage to the therapist. The enriched experience and the total level of control on its features, transform VR in an “empowering environment”, where patients can start to explore and act without feeling actually threatened. The attempt of defining, developing and testing VR tools supporting personal empowerment is the main goal of the Applied Technology for Neuro-Psychology Laboratory –ATN-P Lab– at the Istituto Auxologico Italiano. The paper describes the actual work done by the ATN-P Lab. in this area. Specifically, the open source "NeuroVR" system and its potential clinical applications –anxiety disorders, obesity and eating disorders– are presented and discussed.La capacidad de elección nos proporciona control sobre nuestras vidas y nos ofrece posibilidades de cambio. Sin embargo, para muchas personas no es fácil realizar elecciones efectivas; por ejemplo, los pacientes carecen muchas veces del conocimiento, la habilidad, la asertividad o autoestima necesarias. En esas situaciones, la realidad virtual (RV), una realidad artificial que coloca al sujeto en un espacio generado por el ordenador, puede ser para el terapeuta un recurso decisivo. La experiencia enriquecida y el control total sobre todos sus aspectos transforman la RV en un “entorno fortalecedor”, en el que los pacientes pueden comenzar a explorar y actuar sin sentirse amenazados. El principal objetivo del “Applied Technology for Neuro-Psychology Laboratory” (ATN-P Lab), perteneciente al Instituto Auxologico Italiano, es intentar definir, desarrollar y probar aplicaciones basadas en RV que faciliten el fortalecimiento personal. En este artículo se describe el trabajo que se viene realizando sobre este tema en ese laboratorio. Se presenta y discute, específicamente, el sistema de código abierto denominado “NeuroVR”, así como sus aplicaciones clínicas potenciales sobre los trastornos de ansiedad, la obesidad y los trastornos alimentarios

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

AbstractThe possibility that some combinations of mtDNA polymorphisms, previously associated with Leber's hereditary optic neuropathy (LHON), may affect mitochondrial respiratory function was tested in osteosarcoma-derived transmitochondrial cytoplasmic hybrids (cybrids). In this cellular system, in the presence of the same nuclear background, different exogenous mtDNAs are used to repopulate a parental cell line previously devoid of its original mtDNA. No detectable differences in multiple parameters exploring respiratory function were observed when mtDNAs belonging to European haplogroups X, H, T and J were used. Different possible explanations for the previously established association between haplogroup J and LHON 11778/ND4 and 14484/ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect

Cognitive-behavioural longitudinal assessment in ALS:The Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS)

<p><i>Objective</i>: The study presents data on the longitudinal administration of the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS). We investigated cognitive-behavioral performance in a group of ALS patients over time and the feasibility of repeating the ECAS longitudinally compared with standard neuropsychological tests. Finally, correlations between clinical/genetic and cognitive/behavioral data were considered. <i>Methods</i>: One hundred and sixty-eight ALS patients were tested at baseline (T₀). Among these, 48 patients performed the ECAS after 6 months (T₁), 18 patients performed it at T₂ (12 months), and five patients were assessed after 24 months (T₃). Participants were also administered two cognitive test (FAB; MoCA) and psychological questionnaires (BDI; STAI/Y). The FBI was carried out with caregivers. <i>Results</i>: No cognitive deterioration was found across follow-ups. In contrast, although scores did not change between T₀ and T₁, scores improved significantly for ECAS Total/ALS Non-specific and Memory domains when the ECAS was repeated on three occasions (T₀, T₁, T₂). Apathy/Inertia was the most common behavioral symptom, but no worsening of behavioral scores was detected over time. After 12–24 months, patients were still able to perform the ECAS in total, in contrast to FAB and MoCA, which were only partially administrable. <i>Conclusions</i>: The significant improvement of some ECAS scores over time supports the presence of possible practice effects, particularly in the memory domain, highlighting the need to accommodate for these in longitudinal assessments, through healthy controls groups or alternate versions. This work represents the first Italian ECAS follow-up study and confirms ECAS feasibility in patients with increasing physical disability.</p

Il biofeedback preoperatorio migliora il recupero della continenza a seguito di prostatectomia radicale: una revisione sistematica con meta-analisi

BACKGROUND:&nbsp; Postoperative urinary incontinence is the overall result of urethral sphincter incompetence and modifications in urethral length after radical prostatectomy. Findings for preoperative interventions targeted at preventing post-prostatectomy incontinence include preoperative pelvic floor muscle training (PFMT) and biodfeedback (BFB), which can be managed by nurses in many countries and have been used for decades to speed up continence recovery after surgery. AIM: to determine the effectiveness of preoperative biofeedback (BFB) for post-prostatectomy urinary incontinence compared to pelvic training without BFB, considering the variability between the results of the available studies.&nbsp; METHODS: A systematic review and meta-analysis was conducted, analyzing the indications provided by the literature regarding preoperative biofeedback for preventing urinary incontinence after open radical prostatectomy, in terms of treatment regimens, timing for beginning the sessions, number of contraction and relaxation exercises, and scheduled work at home.&nbsp;Literature search on Pubmed, CINAHL, Cochrane Library, Web of Science, Scopus, EMBASE, and PEdro. RESULTS: Despite only three papers being suitable for metanalysis, our results support BFB over written instructions for continence recovery after both 3 and 6 moths from surgery. Implementing progressive programs with many different muscular exercises and including relaxation are the main recommendations. CONCLUSIONS: Preoperative biofeedback leads to improved urinary continence after 3 and 6 months from radical prostatectomy. Future studies should focus on the characteristics and number of pelvic muscle contractions required during biofeedback in order to maximize effectiveness.BACKGROUND: L'incontinenza urinaria postoperatoria è il risultato complessivo dell'incompetenza dello sfintere uretrale e delle modifiche della lunghezza dell'uretra dopo la prostatectomia radicale. I risultati degli interventi preoperatori mirati a prevenire l'incontinenza post-prostatectomia includono l'allenamento preoperatorio dei muscoli del pavimento pelvico (PFMT) e il biodfeedback (BFB), che possono essere gestiti dal personale infermieristico in molti Paesi. OBIETTIVO: determinare l'efficacia del biofeedback preoperatorio (BFB) per l'incontinenza urinaria post-prostatectomia rispetto al training pelvico senza BFB, considerando la variabilità dei risultati degli studi disponibili.&nbsp; METODI: è stata condotta una revisione sistematica con meta-analisi, analizzando le indicazioni fornite dalla letteratura sul biofeedback preoperatorio per la prevenzione dell'incontinenza urinaria in termini di regimi di trattamento, tempi di inizio delle sessioni, numero di esercizi di contrazione e rilassamento e lavoro programmato a casa. La ricerca della letteratura è stata effettuata su Pubmed, CINAHL, Cochrane Library, Web of Science, Scopus, EMBASE e PEdro. RISULTATI: nonostante solo tre articoli siano stati adatti alla metanalisi, i nostri risultati supportano il BFB rispetto alle istruzioni scritte per il recupero della continenza dopo 3 e 6 mesi dall'intervento. L'implementazione di programmi progressivi con molti esercizi muscolari diversi e l'inclusione del rilassamento sono le principali raccomandazioni. CONCLUSIONI: Il biofeedback preoperatorio porta a un miglioramento della continenza urinaria dopo 3 e 6 mesi dalla prostatectomia radicale. Gli studi futuri dovrebbero concentrarsi sulle caratteristiche e sul numero di contrazioni muscolari pelviche richieste durante il biofeedback per massimizzare l'efficacia.Il biofeedback preoperatorio migliora il recupero della continenza dopo la prostatectomia aperta: una revisione sistematica e una meta-analis

An Italian functional genomic resource for Medicago truncatula

Background: Medicago truncatula is a model species for legumes. Its functional genomics have been considerably boosted in recent years due to initiatives based both in Europe and US. Collections of mutants are becoming increasingly available and this will help unravel the genetic control of important traits for many species of legumes. Findings: Our report is on the production of three complementary mutant collections of the model species Medicago truncatula produced in Italy in the frame of a national genomic initiative. Well established strategies were used: Tnt1 mutagenesis, TILLING and activation tagging. Both forward and reverse genetics screenings proved the efficiency of the mutagenesis approaches adopted, enabling the isolation of interesting mutants which are in course of characterization. We anticipate that the reported collections will be complementary to the recently established functional genomics tools developed for Medicago truncatula both in Europe and in the United States

Case report: optic atrophy and nephropathy with m.13513G>A/MT-ND5 mtDNA pathogenic variant

Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber’s hereditary optic neuropathy (LHON). Interestingly, this specific mutation has been recently described in patients with adult-onset nephropathy. We, here, report the unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy in association with the m.13513G>A variant