Hugravgaard2192

These findings may facilitate molecular testing in the Polish and Asian populations. Invariably better screening for CTX and wider awareness is needed.

We report the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations. During the review of available 568 cases, we found significant differences in the clinical phenotypes and the localization of variants within the gene between Asian and non-Asian populations. These findings may facilitate molecular testing in the Polish and Asian populations. Invariably better screening for CTX and wider awareness is needed.

Identificar e avaliar os estudos publicados sobre fisioterapia em crianças e adolescentes brasileiros com paralisia cerebral (PC), usando o modelo da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF). MÉTODO Artigos em inglês e português publicados até outubro de 2020, sem restrição de data, foram pesquisados em diferentes bases bibliográficas. Foram extraídos dados sobre as características do estudo, métricas do periódico, características da amostra, domínios da CIF explorados a partir dos componentes e desfechos das intervenções. Para caracterizar as evidências, os estudos foram classificados de acordo com os níveis de evidência do Centro de Medicina Baseada em Evidência de Oxford.

Noventa e quatro estudos foram incluídos. Crianças com PC espástica e com menores limitações nas habilidades motoras grossas foram as mais reportadas; 67% dos estudos apresentaram baixos níveis de evidência e foram publicados em periódicos sem fator de impacto. As três intervenções mais frequentes fora de impacto. As três intervenções mais frequentes foram o conceito neuroevolutivo Bobath/terapia do neurodesenvolvimento, a terapia com vestes e a estimulação transcraniana por corrente contínua. Os componentes das intervenções exploraram estruturas e funções do corpo (73,4%), atividade (59,6%) e ambiente (2,1%). Entretanto não exploraram a participação (0%). Os desfechos investigados abordaram atividade (79,8%), estruturas e funções do corpo (67,0%), participação (1%) e ambiente (0%). INTERPRETAÇÃO Os estudos de intervenções fisioterapêuticas para crianças e adolescentes brasileiros com PC, apresentam maior foco em minimizar deficiências em estruturas e funções do corpo e limitações de atividades. São necessários mais estudos, com melhor nível de evidência e foco ampliado para a participação e os fatores ambientais.

The risk of dementia associated with the use of psychotropic drugs is not fully understood. A nested case-control study was carried out to assess the risk of dementia broadly defined or Alzheimer's disease associated with antidepressants, mood stabilizers or antipsychotics.

A cohort was formed from healthcare claim databases including all patients aged 50 and over with a first dispensing of the psychotropic drugs concerned between 2006 and 2017. Patients who developed dementia over the study period were considered as cases. The association between drug exposure prior to a five-year lag time and diagnosis of dementia was assessed by conditional logistic regression models.

No association was found between dementia, either broadly defined or Alzheimer disease, and antidepressant or mood stabilizers. Findings were conflicting with regard to antipsychotics. First- and second-generation antipsychotics (FGA and SGA) were not associated with Alzheimer disease. SGA treatments of more than 3months were associated with a higher risk of dementia broadly defined than no use of antipsychotics (Odds ratio [OR] 2.00; 95%CI 1.06-3.79; p=0.03). In a sensitivity analysis using a lag time of 3years, ever use of SGA and SGA treatments of more than 3months were associated with a higher risk of dementia broadly defined than no use of antipsychotics (OR 1.71; 1.10-2.67; p=0.02 and OR 1.84; 1.03-3.32; p=0.04, respectively).

The association between antipsychotics and dementia should be further investigated to establish patients, specific drugs, and patterns of treatment at risk. Prescribers should remain cautious when prescribing them.

The association between antipsychotics and dementia should be further investigated to establish patients, specific drugs, and patterns of treatment at risk. Prescribers should remain cautious when prescribing them.Platelets from healthy donors display heterogeneity in responsiveness to agonists. The response thresholds of platelets are controlled by multiple bioactive molecules, acting as negatively or positively priming substances. Higher circulating levels of priming substances adenosine and succinate, as well as the occurrence of hypercoagulability, have been described for patients with ischaemic heart disease. Here, we present an improved methodology of flow cytometric analyses of platelet activation and the characterisation of platelet populations following activation and priming by automated clustering analysis.Platelets were treated with adenosine, succinate, or coagulated plasma before stimulation with CRP-XL, 2-MeSADP, or TRAP6 and labelled for activated integrin αIIbβ3 (PAC1), CD62P, TLT1, CD63, and GPIX. The Super-Enhanced Dmax subtraction algorithm and 2% marker (quadrant) setting were applied to identify populations, which were further defined by state-of-the-art clustering techniques (tSNE, FlowSOM).Following activation, five platelet populations were identified resting, aggregating (PAC1 + ), secreting (α- and dense-granules; CD62P + , TLT1 + , CD63 + ), aggregating plus α-granule secreting (PAC1 + , CD62P + , TLT1 + ), and fully active platelet populations. The type of agonist determined the distribution of platelet populations. Adenosine in a dose-dependent way suppressed the fraction of fully activated platelets (TRAP6 > 2-MeSADP > CRP-XL), whereas succinate and coagulated plasma increased this fraction (CRP-XL > TRAP6 > 2-MeSADP). Interestingly, a subset of platelets showed a constant response (aggregating, secreting, or aggregating plus α-granule secreting), which was hardly affected by the stimulus strength or priming substances.

Physical activity (PA) level is decreased in individuals with Parkinson´s disease (PD). To increase the PA level improves both motor and non-motor symptoms of this population. It is known that gait performance and five times sit-to-stand (FTSTS) are associated with PA level; therefore, it is of great relevance for rehabilitation purposes to understand whether these variables may predict PA level of individuals with PD.

To investigate whether gait performance and FTSTS are predictors of PA level.

Cross-sectional study with individuals with idiopathic PD modified Hoehn and Yahr staging scale between 1.0 and 3.0. The gait performance was measured by Functional Gait Assessment (FGA) and PA level was measured by an accelerometer for one week, during day and night through their time spend in locomotion (locomotion time-LT). Multiple linear regression was conducted with gait performance and FTSTS as independent variables and PA level (LT) as dependent variable.

Twenty-two participants were included, mean age 64.82 (8.39) and the mean storage of accelerometer time was 9.866min (0.33). Both gait performance and FTSTS have moderate significant correlation with PA level (r =  - 0.538 p < 0.01 and r = 0.625 p < 0.001, respectively). The linear regression model with FGA and FTSTS was significant (p < 0.05) and predicted 41% of LT.

Gait performance and FTSTS have important interaction with PA level measured by LT in individuals with PD, and it provides insights on the importance of these variables in predicting the PA level of its population.

Gait performance and FTSTS have important interaction with PA level measured by LT in individuals with PD, and it provides insights on the importance of these variables in predicting the PA level of its population.Several systematic reviews have highlighted the role of multiple sources in the investigation of psychiatric illness. For what concerns fMRI, the focus of recent literature preferentially lies on three lines of research, namely functional connectivity, network analysis and spectral analysis. Data was gathered from the UCLA Consortium for Neuropsychiatric Phenomics. The sample was composed by 130 neurotypicals, 50 participants diagnosed with Schizophrenia, 49 with Bipolar disorder and 43 with ADHD. Single fMRI scans were reduced in their dimensionality by a novel method (i-ECO) averaging results per Region of Interest and through an additive color method (RGB) local connectivity values (Regional Homogeneity), network centrality measures (Eigenvector Centrality), spectral dimensions (fractional Amplitude of Low-Frequency Fluctuations). Average images per diagnostic group were plotted and described. The discriminative power of this novel method for visualizing and analyzing fMRI results in an integrative manner was explored through the usage of convolutional neural networks. The new methodology of i-ECO showed between-groups differences that could be easily appreciated by the human eye. The precision-recall Area Under the Curve (PR-AUC) of our models was > 84.5% for each diagnostic group as evaluated on the test-set - 80/20 split. In conclusion, this study provides evidence for an integrative and easy-to-understand approach in the analysis and visualization of fMRI results. A high discriminative power for psychiatric conditions was reached. This proof-of-work study may serve to investigate further developments over more extensive datasets covering a wider range of psychiatric diagnoses.

Thyroid lobectomy is recommended as the primary treatment for low-risk thyroid cancer. However, recurrence and hypothyroidism may develop after lobectomy, necessitating thyroid hormone supplementation. The 2015 American Thyroid Association (ATA) guidelines recommended post-lobectomy thyroid-stimulating hormone (TSH) suppression. This study examined the need for TSH suppression and recurrence after lobectomy for unilateral papillary thyroid carcinoma (PTC).

This study involved 369 patients who underwent thyroid lobectomy and ipsilateral central neck dissection for PTC between 2007 and 2015. Thyroid function tests were performed before and regularly after lobectomy. Binary logistic regression analyses were used to find factors predictive of the post-lobectomy need for TSH suppression that was defined by the 2015 ATA guidelines.

Serum TSH concentrations gradually increased after lobectomy proportions with TSH >2 mIU/L at post-lobectomy 1, 3-6, 12, and 24 months were found in 77.0%, 82.3%, 66.7%, and 59.9%, respectively. After lobectomy, 168 (45.5%) patients received levothyroxine (T4) supplementation. Multivariate logistic regression analyses showed that pre-TSH level >2 mIU/L was the sole independent variable predictive of the need for post-lobectomy TSH suppression (P = 0.003). During the median follow-up of 72 months, recurrence was found in 4 (1.1%) patients who never received T4 supplementation and had post-lobectomy TSH levels >2 mIU/L.

Our data show that thyroid lobectomy for unilateral PTC is associated with a low recurrence rate, but a significant risk of hypothyroidism. Preoperative TSH level can predict the need for post-lobectomy TSH suppression compliant with the 2015 ATA guidelines.

Our data show that thyroid lobectomy for unilateral PTC is associated with a low recurrence rate, but a significant risk of hypothyroidism. Preoperative TSH level can predict the need for post-lobectomy TSH suppression compliant with the 2015 ATA guidelines.