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Abstract Background The objective of this study was to investigate, in subject with stroke, the exact role as prognostic factor of common inflammatory biomarkers and other markers in predicting motor and/or cognitive improvement after rehabilitation treatment from early stage of stroke. Methods In this longitudinal cohort study on stroke patients undergoing inpatient rehabilitation, data from 55 participants were analyzed. Functional and clinical data were collected after admission to the rehabilitation unit. Biochemical and hematological parameters were obtained from peripheral venous blood samples on all individuals who participated in the study within 24 hours from the admission at the rehabilitative treatment. Data regarding the health status were collected at the end of rehabilitative treatment. First, a feature selection has been performed to estimate the mutual dependence between input and output variables. More specifically, the so called Mutual Information criterion has been exploited. In the second stage of the analysis, the Support Vector Machines (SVMs), a non-probabilistic binary machine learning algorithm widely used for classification and regression, has been used to predict the output of the rehabilitation process. Performances of the linear SVM regression algorithm have been evaluated considering a different number of input features (ranging from 4 to 14). The performance evaluation of the model proposed has been investigated in terms of correlation, Root Mean Square Error (RMSE) and Mean Absolute Deviation Percentage (MADP). Results Results on the test samples show a good correlation between all the predicted and measured outputs (i.e. T1 Barthel Index (BI), T1 Motor Functional Independence Measure (FIM), T1 Cognitive FIM and T1 Total FIM) ranging from 0.75 to 0.81. While the MADP is high (i.e., 83.96%) for T1 BI, the other predicted responses (i.e., T1 Motor FIM, T1 Cognitive FIM, T1 Total FIM) disclose a smaller MADP of 30%. Accordingly, the RMSE ranges from 4.28 for T1 Cognitive FIM to 22.6 for T1 BI. Conclusions In conclusion, the authors developed a new predictive model using SVM regression starting from common inflammatory biomarkers and other ratio markers. The main efforts of our model have been accomplished in regard to the evidence that the type of stroke has not shown itself to be a critical input variable to predict the discharge data, furthermore, among the four selected indicators, Barthel at T1 is the less predictable (MADP > 80%), while it is possible to predict T1 Cognitive FIM with an MADP less than 18%. [ABSTRACT FROM AUTHOR]

Abstract: Sale P, Mazzarella F, Pagliacci MC, Agosti M, Felzani G, Franceschini M. Predictors of changes in sentimental and sexual life after traumatic spinal cord injury. Objective: To investigate changes and identify predictors in interpersonal functioning and sexual life after traumatic spinal cord injury (SCI). Design: Prospective, multicenter, follow-up observational study. Setting: Subjects at home, interviewed by phone during a 6-month period, 3.8 mean years after discharge from 24 centers participating in a previous epidemiologic prospective survey. Participants: Subjects (N=403) with traumatic SCI. Interventions: Not applicable. Main Outcome Measures: Dependent variables: satisfaction with sentimental life and satisfaction with sexual life compared with before the injury. Independent variables: demographic (age, sex, marital status, vocational status), SCI related (severity, level, bowel/bladder continence), car-driving ability, perceived quality of life (QoL), and impact of sentimental life, social integration, and vocational status on QoL. Results: Satisfaction with sentimental life was reportedly increased or the same as before SCI in 69% of the sample, but satisfaction with sexual life in only 31%. Lesser satisfaction with sexual life was reported by men than women (P=.002) and by married people than singles (P<.001). Significant predictors of sentimental life were perceived QoL and preserved driving ability (R 2=.195). Bladder continence was positively associated with a better satisfaction with sexual life (R 2=.368). Bowel continence did not remain a significant predictor of satisfaction with sexual life in multivariate analysis. Conclusions: The challenge of a comprehensive rehabilitation of SCI, addressing the recovery of well-being including a satisfying sentimental and sexual life, requires identifying new issues that should be considered in up-to-date rehabilitation programs. The results indicate associations between driving ability and a better satisfaction with sentimental life. Further investigations are needed to explore whether the relationship is causative. [Copyright &y& Elsevier]

Background & Aims: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease clinically defined by gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy, white-matter changes in brain magnetic resonance imaging, and mitochondrial abnormalities. Loss-of-function mutations in thymidine phosphorylase gene induce pathologic accumulations of thymidine and deoxyuridine that in turn cause mitochondrial DNA (mtDNA) defects (depletion, multiple deletions, and point mutations). Our study is aimed to define the molecular basis of gastrointestinal dysmotility in a case of MNGIE. Methods: By using laser capture microdissection techniques, we correlated histologic features with mtDNA abnormalities in different tissue components of the gastrointestinal wall in a MNGIE patient and ten controls. Results: The patient’s small intestine showed marked atrophy and mitochondrial proliferation of the external layer of muscularis propria. Genetic analysis revealed selective depletion of mtDNA in the small intestine compared with esophagus, stomach, and colon, and microdissection analysis revealed that mtDNA depletion was confined to the external layer of muscularis propria. Multiple deletions were detected in the upper esophagus and skeletal muscle. Site-specific somatic point mutations were detected only at low abundance both in the muscle and nervous tissue of the gastrointestinal tract. Analysis of the gastrointestinal tract from 10 controls revealed a non-homogeneous distribution of mtDNA content; the small intestine had the lowest levels of mtDNA. Conclusion: Atrophy, mitochondrial proliferation, and mtDNA depletion in the external layer of muscularis propria of small intestine indicate that visceral myopathy is responsible for gastrointestinal dysmotility in this MNGIE patient. [Copyright &y& Elsevier]

Abstract: Ullrich congenital muscular dystrophy (UCMD) is clinically characterized by muscle weakness, proximal contractures and distal hyperlaxity and morphologically branded by absence or reduction of collagen VI (ColVI), in muscle and in cultured fibroblasts. The ColVI defect is generally related to COL6 genes mutations, however UCDM patients without COL6 mutations have been recently reported, suggesting genetic heterogeneity. We report comparative morphological findings between a UCMD patient harboring a homozygous COL6A2 mutation and a patient with a typical UCMD phenotype in which mutations in COL6 genes were excluded. The patient with no mutations in COL6 genes exhibited a partial ColVI defect, which was only detected close to the basal membrane of myofibers. We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect. [Copyright &y& Elsevier]

• This randomised controlled trial compared robot-assisted gait training (RAGT) to treadmill training (TT) for people with Parkinson's disease. • RAGT and TT improved overall gait capacity to the same extent. • RAGT was more effective than TT in improving freezing of gait (FOG). • RAGT reduced FOG more in dependent walkers than independent walkers. • Disability level was reduced in freezers more than in non-freezers. Although gait disorders strongly contribute to perceived disability in people with Parkinson's disease, clinical trials have failed to identify which task-oriented gait training method can provide the best benefit. Freezing of gait remains one of the least investigated and most troublesome symptoms. We aimed to compare the effects of robot-assisted gait training and treadmill training on endurance and gait capacity in people with Parkinson disease; the secondary aim was to compare the effect of the treatments in people with freezing and/or severe gait disability and assess changes in overall disease-related disability and quality of life. Outpatients with Parkinson disease (Hoehn and Yahr stage ≥ 2) were randomly assigned to receive 20 sessions of 45-min gait training assisted by an end-effector robotic device (G-EO System) or treadmill training. Outcome assessments were the 6-min walk test, Timed Up and Go test, Freezing of Gait Questionnaire, Unified Parkinson's Disease Rating Scales and Parkinson's Disease Quality of Life Questionnaire-39 administered before (T0) and after treatment (T1). We included 96 individuals with Parkinson disease: 48 with robot-assisted gait training and 48 treadmill training. Both groups showed significant improvement in all outcomes. As compared with baseline, with robot-assisted gait training and treadmill training, endurance and gait capacity were enhanced by 18% and 12%, respectively, and motor symptoms and quality of life were improved by 17% and 15%. The maximum advantage was observed with the Freezing of Gait Questionnaire score, which decreased by 20% after either treatment. On post-hoc analysis, dependent walkers benefited more than independent walkers from any gait training, whereas freezers gained more from robot-assisted than treadmill training in terms of freezing reduction. Repetitive intensive gait training is an effective treatment for people with Parkinson disease and can increase endurance and gait velocity, especially for those with severe walking disability. Advantages are greater with robot-assisted gait training than treadmill training for individuals with freezing of gait – related disability. [ABSTRACT FROM AUTHOR]

Abstract: Functional mGlu receptor subtypes are found in stem/progenitor cells, and regulate proliferation, differentiation, and survival of these cells. Activation of mGlu5 receptors supports self-renewal of embryonic stem cells, which are pluripotent cells isolated from the blastocyst capable of generating all the body''s cell lineages, including germ cells. Differentiation of embryonic stem cells into embryoid bodies is associated with the induction of mGlu4 receptors, the activation of which drives cell differentiation towards the mesoderm and endoderm lineages. Different mGlu receptor subtypes, mGlu3 and mGlu5 receptors in particular, are found in neural stem cells (stem cells resident in the CNS that give rise to neurons, astrocytes or oligodendrocytes) isolated from the developing brain or from regions of persistent neurogenesis of the adult brain (e.g. the subventricular zone lining the wall of the lateral ventricles). The evidence that activation of mGlu3 and mGlu5 receptors stimulates proliferation of these cells is particularly interesting because of the similarities between neural stem cells and putative cancer stem cells that support the growth of malignant gliomas. A link among mGlu receptors, stem cells and cancer is supported by the finding that mGlu4 receptors are expressed by cerebellar granule cell neuroprogenitors, which are the putative cells of origin of medulloblastomas. The study of mGlu receptors in stem/progenitor cells has potential applications in the optimisation of protocols of cell expansion and differentiation aimed at cell replacement strategies, and may gain new insights into the pathophysiology of neurodevelopmental disorders and brain tumours. [Copyright &y& Elsevier]

Summary: Metabotropic glutamate (mGlu) receptors are G-protein coupled receptors activated by glutamate, the major excitatory neurotransmitter of the CNS. A growing body of evidence suggests that the function of mGlu receptors is not restricted to the regulation of synaptic transmission. mGlu receptors are expressed in a variety of peripheral cells, including inter alia hepatocytes, pancreatic cells, osteoblasts and immune cells. Within the immunological synapses, mGlu receptors expressed by T cells might contribute to the vast array of signals generated by the antigen-presenting cells. mGlu receptors are also found in embryonic and neural stem cells. This suggests their involvement in the pathophysiology of brain tumors, which likely originates from cancer stem cells similar to neural stem cells. Ligands of mGlu3 and mGlu4 receptors are potential candidates for the experimental treatment of malignant gliomas and medulloblastomas, respectively. [Copyright &y& Elsevier]