Factors for changes in self-care and mobility capabilities in young children with cerebral palsy involved in regular outpatient rehabilitation care

BACKGROUND: Assessing prognosis of self-care and mobility capabilities in children with cerebral palsy (CP) is important for goal setting, treatment guidance and meaningful professional-caregiver conversations. AIMS: Identifying factors associated with changes in self-care and mobility capabilities in regular outpatient multidisciplinary paediatric CP rehabilitation care. METHODS AND PROCEDURES: Routinely monitored longitudinal data, assessed with the Paediatric Evaluation of Disability Inventory (PEDI-Functional-Skills-Scale, FSS 0–100) was retrospectively analysed. We determined contributions of age, gross-motor function, bimanual-arm function, intellectual function, education type, epilepsy, visual function, and psychiatric comorbidity to self-care and mobility capability changes (linear-mixed-models). OUTCOMES AND RESULTS: For 90 children (53 boys), in all Gross-Motor-Function-Classification-System (GMFCS) levels, 272 PEDI's were completed. Mean PEDI–FSS–scores at first measurement (median age: 3,2 years) for self-care and mobility were 46.3 and 42.4, and mean final FSS-scores respectively were 55.1 and 53.1 (median age: 6,5 years). Self-care capability change was significantly associated with age (2.81, p < 0.001), GMFCS levels III-V (-9.12 to -46.66, p < 0.01), and intellectual impairment (-6.39, p < 0.01). Mobility capability change was significantly associated with age (3.25, p < 0.001) and GMFCS levels II-V (-6.58 to -47.12, p < 0.01). CONCLUSIONS AND IMPLICATIONS: Most important prognostic factor for self-care and mobility capabilities is GMFCS level, plus intellectual impairment for self-care. Maximum capability levels are reached at different ages, which is important for individual goal setting and managing expectations

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

A. Palotie on työryhmän Schizophrenia Working Grp Psychiat jäsen.We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P = 1 x 10(-4)) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P = 8.4 x 10(-7)). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.Peer reviewe

Campylobacter jejuni Cas9 modulates the transcriptome in Caco-2 intestinal epithelial cells

The zoonotic human pathogen Campylobacter jejuni is known for its ability to induce DNA-damage and cell death pathology in humans. The molecular mechanism behind this phenomenon involves nuclear translocation by Cas9, a nuclease in C. jejuni (CjeCas9) that is the molecular marker of the Type II CRISPR-Cas system. However, it is unknown via which cellular pathways CjeCas9 drives human intestinal epithelial cells into cell death. Here, we show that CjeCas9 released by C. jejuni during the infection of Caco-2 human intestinal epithelial cells directly modulates Caco-2 transcriptomes during the first four hours of infection. Specifically, our results reveal that CjeCas9 activates DNA damage (p53, ATM (Ataxia Telangiectasia Mutated Protein)), pro-inflammatory (NF-B (Nuclear factor-B)) signaling and cell death pathways, driving Caco-2 cells infected by wild-type C. jejuni, but not when infected by a cas9 deletion mutant, towards programmed cell death. This work corroborates our previous finding that CjeCas9 is cytotoxic and highlights on a RNA level the basal cellular pathways that are modulated.</p

Virtual Seminar on the Bioapparatus

Includes a text based on transcripts of proceedings of a seminar on the "bioapparatus," conceived as the focus of issues concerning technology and the body. Statements by 20 artists and writers treat such topics as natural artifice, designing the social, virtual reality, art machines, and aural/visual space. Biographical notes on the participants