BackgroundPhelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene. The typical phenotype includes neonatal hypotonia, moderate to severe intellectual disability, absent or delayed speech, minor dysmorphic features and autism or autistic-like behaviour. Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, accompanied by a phenotype different from the initial clinically description in Phelan McDermid syndrome.Case presentationHere we present two case studies with similar psychiatric and genetic diagnosis as well as similar clinical history and evolution. The two patients were diagnosed with autism spectrum disorders in childhood and presented regression with catatonia features and behavioural disorders after a stressful event during adolescence. Interestingly, both patients presented mutation/microdeletion of the SHANK3 gene, inducing a premature stop codon in exon 21. Different pharmacological treatments (antipsychotics, benzodiazepines, mood stabilizer drugs, antidepressants, and methylphenidate) failed to improve clinical symptoms and lead to multiple adverse events. In contrast, lithium therapy reversed clinical regression, stabilized behavioural symptoms and allowed patients to recover their pre-catatonia level of functioning, without significant side effects.ConclusionThese cases support the hypothesis of a specific SHANK3 phenotype. This phenotype might be linked to catatonia-like deterioration for which lithium use could be an efficient treatment. Therefore, these cases provide an important contribution to the field of autism research, clinical genetics and possible pharmacological answers.Electronic supplementary materialThe online version of this article (doi:10.1186/s12888-015-0490-1) contains supplementary material, which is available to authorized users.

BACKGROUND AND PURPOSE: Direct aspiration is a recognized technique for revascularization in large-vessel ischemic strokes. There is ongoing debate regarding its efficacy compared with stent retrievers. Every delay in achieving revascularization and a decrease in reperfusion rates reduces the likelihood of patients achieving functional independence. We propose a standardized setup technique for aspiration-first for all anterior circulation thrombectomy procedures for increasing speed and recanalization rates. MATERIALS AND METHODS: We analyzed 127 consecutive patients treated by a standardized approach to thrombectomy with an intention to perform aspiration-first compared with 127 consecutive patients treated with a stent retriever-first approach. Key time metrics evaluated included groin to first angiogram, first angiogram to reperfusion, groin to first reperfusion, and length of the procedure. The degree of successful recanalization (TICI 2b-3) and the number of passes were compared between the 2 groups. RESULTS: In 127 patients who underwent the standardized technique, the median time from groin puncture to first reperfusion was 18 minutes compared with 26 minutes (P Ͻ .001). The duration of the procedure was shorter compared with the stent retriever group (26 minutes in the aspiration first group versus 47 minutes, P Ͻ .001) and required fewer passes (mean, 2.4 versus 3.1; P Ͻ .05). A higher proportion of patients had a TICI score of 2b-3 in the aspiration-first group compared with stent retriever group (96.1% versus 85.8%, P Ͻ .005). CONCLUSIONS: Our study highlights the increasing speed and recanalization rates achieved with fewer passes in a standardized approach to thrombectomy with an intention to attempt aspiration-first. Any attempt to reduce revascularization time and increase successful recanalization should be used. ABBREVIATIONS: ADAPT ϭ A Direct Aspiration First Pass Technique; ENT ϭ emboli to a new territory; IQR ϭ interquartile range; RCT ϭ randomized controlled trial

Avaliação da sonolência diurna e qualidade do sono em idosos e sua relação com a qualidade de vidaEvaluation of daytime sleepiness and sleep quality in the elderly and its relation with quality of life AbstractObjective: To evaluate daytime sleepiness and sleep quality in the elderly and their influence on quality of life. Methods: Quantitative, cross-sectional and descriptive research. For the evaluation of daytime sleepiness was used the Epworth Sleepiness Scale (ESS), to evaluate sleep quality, the Pittsburgh Sleep Quality Index (PSQI), and to assess the quality of life of the WHOQOL-BREF. For analysis and interpretation of the results, the elderly was divided into groups according to the classification of ESS and PSQI. Results: A total of 128 elderly patients were evaluated. When analyzing ESS, 24.2% of the elderly had a score equal to or greater than 11 points, which indicates Excessive Day Drowsiness (EDD). When the quality of sleep was evaluated, 69.6% of the elderly had a score higher than 5 in the PSQI, which indicates poor quality sleep. When comparing from the ESS, the group of elderly people who did not present EDD with the elderly classified with EDD, a significant difference was observed in the psychological domain of the WHOQOL-BREF, when comparing the elderly with PSQI, there was a significant difference for the physical and environmental domains. Conclusion: The occurrence of excessive daytime sleepiness and poor sleep quality can have an impact on quality of life.

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This study investigated the acute effect of a dose range of low-to-moderate binge-like methamphetamine treatments on the regional expression of neurotrophin proteins in the brain and serum 2 h after the last dose, in addition to assessing the behavioural effects and dopamine neurotransmitter changes produced. Male Sprague-Dawley rats received 4 subcutaneous doses of methamphetamine (0.5, 1, 2, and 4 mg/kg, or saline as a control) 2 h apart. Methamphetamine had a dose-dependent stimulatory effect on locomotor activity over the 8 h of observation. A significant increase in dopamine concentration was observed in the frontal cortex with the highest dose of methamphetamine (2 h after the last dose). This effect was dose- and region-specific, as no significant increase was observed with lower doses, nor was a significant change observed in any other brain region tested. A similar dose- and region-specific increase in brain-derived neurotrophic factor (BDNF) was observed in the frontal cortex with the highest-dose regimen. No significant change occurred with lower doses of methamphetamine, or in any other brain region tested. A reduction in BDNF levels in the serum was also observed with the highest concentration, but not with lower doses. Collectively, this data highlights the importance of the frontal cortex in methamphetamine-induced effects, and also the similar dose-response effect of methamphetamine on dopamine and BDNF expression.