5 research outputs found

    Unmet Rehabilitation Needs after Traumatic Brain Injury across Europe: Results from the CENTER-TBI Study

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    This study aims to assess rehabilitation needs and provision of rehabilitation services for individuals with moderate-to-severe disability and investigate factors influencing the probability of receiving rehabilitation within six months after traumatic brain injury (TBI). Overall, the analyses included 1206 individuals enrolled in the CENTER-TBI study with severe-to-moderate disability. Impairments in five outcome domains (daily life activities, physical, cognition, speech/language, and psychological) and the use of respective rehabilitation services (occupational therapy, physiotherapy, cognitive and speech therapies, and psychological counselling) were recorded. Sociodemographic and injury-related factors were used to investigate the probability of receiving rehabilitation. Physiotherapy was the most frequently provided rehabilitation service, followed by speech and occupational therapy. Psychological counselling was the least frequently accessed service. The probability of receiving a rehabilitative intervention increased for individuals with greater brain injury severity (odds ratio (OR) 1.75, CI 95%: 1.27-2.42), physical (OR 1.92, CI 95%: 1.21-3.05) and cognitive problems (OR 4.00, CI 95%: 2.34-6.83) but decreased for individuals reporting psychological problems (OR 0.57, CI 95%: 1.21-3.05). The study results emphasize the need for more extensive prescription of rehabilitation services for individuals with disability. Moreover, targeted rehabilitation programs, which aim to improve outcomes, should specifically involve psychological services to meet the needs of individuals recovering from TBI

    Co-existence of depression and post-concussion syndrome one month after mild traumatic brain injury

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    Previous studies suggest an association between Post-concussion syndrome (PCS) and depression, both highly prevalent after mTBI. To assess the prevalence and risk-factors of depression among patients with PCS 1 month after mTBI. We prospectively screened 372 mTBI patients admitted in two academic Emergency Departments between 2017 and 2019. One month after mTBI, we administered the Rivermead Post-concussion symptoms Questionnaire (RPQ) and the Patient Health Questionnaire (PHQ-9) questionnaires over the telephone. PCS and depression were defined by RPQ ≄ 12 and PHQ-9 ≄ 10. Multivariate multinomial regression identified baseline factors associated with PCS and depression. Two hundred and eight completed RPQ and PHQ-9. Forty-seven patients (22.5%) met criteria for PCS, among which 22 (46.8%) met criteria for depression (PCS+D+). Patients with PCS but without depression were less likely to present with an associated injury (Coefficient = −1.6, p = 0.047) and to report initial sadness (Coefficient = −2.5, p = 0.03). Initial sadness (Coefficient = −1.3, p = 0.047), associated injury (Coefficient = −1.9, p = 0.008), as well as initial nausea (Coefficient = −1.8, p = 0.002), and male sex (Coefficient = 1.8, p = 0.002), were associated with the absence of depression and PCS in comparison with PCS+D+ patients. Among patients with PCS 1 month after mTBI, those with depression are more likely to present with initial sadness and with an associated injury.</p

    Granzyme B-secreting B cells as a potential cell therapeutic

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    International audienceB cells secreting granzyme B (GZMB+) with suppressive properties have been discovered in a growing number of immunological contexts, autoimmunity, chronic infection, and neoplasias, as well as in healthy volunteers under physiological conditions.To date, no phenotype has been proposed for these GZMB+ B cells, and their biology also remains uncharacterized.These data provide new insights into GZMB+ B cell biology and function that emerge as one component of a complex regulatory network. Successfully expanding these cells while maintaining their potent immunosuppressive properties provides new clues for novel future cell therapies

    Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

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    International audienceAbstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally. Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function (LoF) or gain-of-function (GoF) properties, whereas 13 appeared neutral. We collected detailed clinical data from 25 patients (from 23 families) harbouring 17 of these variants. All patients had global developmental impairment, mostly moderate (9/25) or severe (12/25). Twelve patients had seizures, including focal motor (6/12), unknown onset motor (4/12), focal impaired awareness (1/12), (atypical) absence (2/12), myoclonic (5/12), and generalized tonic-clonic (1/12) or atonic (1/12) seizures. The epilepsy syndrome was classified as developmental and epileptic encephalopathy in eight patients, developmental encephalopathy without seizures in 13 patients, and intellectual disability with epilepsy in four patients. Limb muscular hypotonia was reported in 13/25, and hypertonia in 10/25. Movement disorders were reported in 14/25, with hyperekplexia or non-epileptic erratic myoclonus being the most prevalent feature (8/25). Correlating receptor functional phenotype with clinical features revealed clinical features for GRIA3-associated NDDs and distinct NDD phenotypes for LoF and GoF variants. GoF variants were associated with more severe outcomes: patients were younger at the time of seizure onset (median age one month), hypertonic, and more often had movement disorders, including hyperekplexia. Patients with LoF variants were older at the time of seizure onset (median age 16 months), hypotonic, and had sleeping disturbances. LoF and GoF variants were disease-causing in both sexes but affected males often carried de novo or hemizygous LoF variants inherited from healthy mothers, whereas all but one affected females had de novo heterozygous GoF variants
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