Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants with TSC were followed from birth to age 2 years, seeking biomarkers of epilepsy development. Vigabatrin had profound effects on many metabolites, increasing serum deoxycytidine monophosphate (dCMP) levels 52-fold. Most serum proteins and metabolites, and blood RNA species showed significant change with age. Thirty-nine proteins, metabolites, and genes showed significant differences between age-matched control and TSC infants. Six also showed a progressive difference in expression between control, TSC without epilepsy, and TSC with epilepsy groups. A multivariate approach using enrollment samples identified multiple 3-variable predictors of epilepsy, with the best having a positive predictive value of 0.987. This rich dataset will enable further discovery and analysis of developmental effects, and associations with seizure development in TSC.</p

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

Objective: Clinical care of rare and complex epilepsies is challenging, because evidence‐based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. / Methods: Members of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web‐based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht‐like diseases. A consensus‐based questionnaire was generated for each disease. / Results: Twenty‐six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht‐like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. / Significance: The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers

Clinical Cell Therapy Guidelines for Neurorestoration (IANR/CANR 2017)

Cell therapy has been shown to be a key clinical therapeutic option for central nervous system diseases or damage. Standardization of clinical cell therapy procedures is an important task for professional associations devoted to cell therapy. The Chinese Branch of the International Association of Neurorestoratology (IANR) completed the first set of guidelines governing the clinical application of neurorestoration in 2011. The IANR and the Chinese Association of Neurorestoratology (CANR) collaborated to propose the current version "Clinical Cell Therapy Guidelines for Neurorestoration (IANR/CANR 2017)". The IANR council board members and CANR committee members approved this proposal on September 1, 2016, and recommend it to clinical practitioners of cellular therapy. These guidelines include items of cell type nomenclature, cell quality control, minimal suggested cell doses, patient-informed consent, indications for undergoing cell therapy, contraindications for undergoing cell therapy, documentation of procedure and therapy, safety evaluation, efficacy evaluation, policy of repeated treatments, do not charge patients for unproven therapies, basic principles of cell therapy, and publishing responsibility

Reducing the development gaps between regions in Poland with the use of European Union funds

The paper evaluates the processes of regional income convergence in Poland. This new research approach involves an attempt to assess the process of convergence from the point of view of development gaps. Six key development gaps were considered in the region of Eastern Poland, which is a singular case, significantly different from other regions. A dynamic panel data model was applied to investigate the impact of EU funds on the progress made towards closing these development gaps. Among the analysed development gaps, only the structural gap was not reduced in the period 2004–2015. Studies have also revealed the different impact of structural funds on each category of development gaps (a positive impact on reducing the regional transport accessibility gap and the investment gap, but negative – on reducing the innovation gap). Research has suggested the need for a change in the structure of using EU funds in the period 2014–2020 to favour stronger support for entrepreneurship and the creation of new jobs. Greater stimulation of the economic structure of peripheral regions has been proposed as the prerequisite for the future reduction in the discrepancies between regions and for the intensification of convergence. First published online 2 April 201

XLIV Konferencja Komitetu Nauk o Żywności i Żywieniu PAN: nauka, technologia i innowacje w żywności i żywieniu

Streszczenia w jęz. angielskimWydarzenie: XLIV Konferencja Komitetu Nauk o Żywności i Żywieniu PAN; Łódź, 3-4 lipca 2019 r.; http://pan.binoz.p.lodz.plOrganizator konferencji: Wydział Biotechnologii i Nauk o Żywności PŁ; Komitet Nauk o Żywności i Żywieniu PAN; Polskie Towarzystwo Technologów ŻywnościProjekt graficzny okładki: Grzelczyk, J.Projekt graficzny okładki: Klewicki, R.Skład: Oracz, J.Za treść zamieszczonych materiałów odpowiadają ich autorzy.Sesje Naukowe Komitetu Nauk o Żywności i Żywieniu Polskiej Akademii Nauk (KNoŻiŻ PAN) są organizowane przez krajowe ośrodki akademickie związane z naukami o żywności i żywieniu w dwuletnich cyklach. Sesje te stanowią największe w skali kraju forum prezentacji najnowszych osiągnięć naukowych i technologicznych w dziedzinie technologii żywności i żywienia człowieka, jak również wymiany poglądów oraz doświadczeń pracowników jednostek naukowych i przedstawicieli przemysłu spożywczego. Tematyka XLIV Sesji dotyczyć będzie szeroko pojętej problematyki związanej z oddziaływaniem żywności i odżywiania na zdrowie człowieka

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years

We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants with TSC were followed from birth to age 2 years, seeking biomarkers of epilepsy development. Vigabatrin had profound effects on many metabolites, increasing serum deoxycytidine monophosphate (dCMP) levels 52-fold. Most serum proteins and metabolites, and blood RNA species showed significant change with age. Thirty-nine proteins, metabolites, and genes showed significant differences between age-matched control and TSC infants. Six also showed a progressive difference in expression between control, TSC without epilepsy, and TSC with epilepsy groups. A multivariate approach using enrollment samples identified multiple 3-variable predictors of epilepsy, with the best having a positive predictive value of 0.987. This rich dataset will enable further discovery and analysis of developmental effects, and associations with seizure development in TSC