Cooperation between universities and business : Poland in comparison with selected European Union countries

Celem raportu jest dokonanie diagnozy stanu i perspektyw współpracy przedsiębiorstw ze szkołami wyższymi w Polsce. Analiza obejmuje osiem obszarów, identyfikowanych jako najważniejsze pola, na których realizuje się współpraca biznesu z uniwersytetami, wskazanych w raporcie pt. The State of University-Business Cooperation in Germany z grudnia 2013 r. Zespół, który przygotował Raport jest jednym z czterech zespołów roboczych utworzonych w ramach seminarium "Co się dzieje z uniwersytetem?". Prace seminarium koordynują prof. dr hab. Jacek Blikle, prof. dr hab. Anna Giza, prof. dr hab. Jerzy Hausner i dr Łukasz Stankiewicz. Działa ono w ramach platformy rozwoju edukacji OEES EduLab www.oees.pl/edu-lab, która jest częścią szerszego ruchu Open Eyes Economy Summit, koordynowanego przez Fundację Gospodarki i Administracji Publicznej.The purpose of the report is to diagnose the state and prospects of cooperation between businesses and universities in Poland. The analysis covers eight areas identified as the most important fields in which business-university cooperation is taking place, as indicated in the report The State of University-Business Cooperation in Germany from December 2013. The team that prepared the report is one of the four working teams formed as part of the seminar "What is happening to the university?". The work of the seminar is coordinated by Prof. Dr. Jacek Blikle, Prof. Dr. Anna Giza, Prof. Dr. Jerzy Hausner and Dr. Łukasz Stankiewicz. It operates as part of the OEES EduLab education development platform www.oees.pl/edu-lab, which is part of the wider Open Eyes Economy Summit movement coordinated by the Foundation for Economics and Public Administration

Dlaczego neurolog dziecięcy MUSI zawsze mierzyć obwód głowy - opis przypadku deficytu transportera glukozy typu 1 (Glut1-DS)

Introduction. The deficit of the type 1 glucose transporter (Glut1-DS) belongs to the neurometabolic disorders that can be effectively treated, in this case with ketogenic diet. By limiting glucose supply to the brain the deficit of glucose transporter 1 leads to cerebral energy deficiency. Glut1-DS manifests with a wide range of neurological symptoms that usually start in early childhood, including cognitive impairment, epilepsy and permanent and/or paroxysmal motor disorders, often provoked by physical activity, fasting or hyperthermale. Aim. We present the case of a 6,5-year-old patient with Glut1- -DS who, despite presenting typical symptoms, remained undiagnosed for years. Family history was positive of intellectual disability in first degree relative. The child suffered from psychomotor development delay, motor coordination difficulties, motor disorders and epilepsy with focal and absence seizures of early onset. However, the significant symptom of secondary microcephaly remained unnoticed for years. Conclusion. Secondary microcephaly is a valuable symptom which can guide towards the diagnosis. The early diagnosis of Glut1 deficiency syndrome enables prompt introduction of the ketogenic diet crucial for the child’s development and improvement of both the patients and their families’ quality of life.Wstęp. Deficyt transportera glukozy typu 1 (Glut1-DS.) należy do tych nielicznych neurometabolicznych schorzeń, które mogą być skutecznie leczone, w tym wypadku dietą ketogenną. Deficyt transportera 1, poprzez redukcję transportu glukozy do OUN, prowadzi do deficytu energetycznego mózgu. Schorzenie to charakteryzuje się wieloma objawami ze strony układu nerwowego, najczęściej z początkiem w okresie wczesnego dzieciństwa. Należą do nich zaburzenia poznawcze, padaczka, dysfunkcje ruchowe o przewlekłym charakterze lub występujące napadowo, często prowokowane wysiłkiem, głodzeniem czy zwyżką ciepłoty ciała. Cel. Celem pracy było przedstawienie przypadku 6,5 letniej pacjentki z Glut1-DS, u której rozpoznanie było opóźnione pomimo obecności typowych dla tego schorzenia objawów klinicznych. Wywiad rodzinny był obciążony występowaniem niepełnosprawności intelektualnej u krewnego I stopnia. U dziecka obserwowano nieprawidłowy rozwój poznawczy, niezgrabność ruchową oraz padaczkę z napadami ogniskowymi oraz nieświadomości o wczesnym początku. Jednakże, istotny objaw diagnostyczny, jakim było małogłowie wtórne, długo nie był rejestrowany. Wnioski. Małogłowie wtórne jest istotnym objawem ukierunkowującym diagnostykę. Wczesne rozpoznanie Glut1-DS. umożliwia wprowadzenie skutecznego leczenia dietą ketogenną, co prowadzi do poprawy rozwoju dziecka i tym samym do polepszenia jakości życia pacjenta i jego rodziny

PIGN encephalopathy: Characterizing the epileptology

International audienceOBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified. RESULTS: Twenty six patients (13 female) from 26 families were identified, with mean age 7 years (range = 1 month to 21 years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14/26) or severe (11/26). Patients presented with focal motor (12/26), unknown onset motor (5/26), focal impaired awareness (1/26), absence (2/26), myoclonic (2/26), myoclonic-atonic (1/26), and generalized tonic-clonic (2/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. Mean age at seizure onset was 13 months (birth to 10 years), with a lower mean onset in DEE (7 months) compared with ID+E (33 months). Patients with DEE had drug-resistant epilepsy, compared to 4/6 ID+E patients, who were seizure-free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty-seven of 34 variants were novel. Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures. SIGNIFICANCE: PIGN encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment

PIGN encephalopathy: Characterizing the epileptology

International audienceOBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified. RESULTS: Twenty six patients (13 female) from 26 families were identified, with mean age 7 years (range = 1 month to 21 years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14/26) or severe (11/26). Patients presented with focal motor (12/26), unknown onset motor (5/26), focal impaired awareness (1/26), absence (2/26), myoclonic (2/26), myoclonic-atonic (1/26), and generalized tonic-clonic (2/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. Mean age at seizure onset was 13 months (birth to 10 years), with a lower mean onset in DEE (7 months) compared with ID+E (33 months). Patients with DEE had drug-resistant epilepsy, compared to 4/6 ID+E patients, who were seizure-free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty-seven of 34 variants were novel. Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures. SIGNIFICANCE: PIGN encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment

PIGN encephalopathy : characterizing the epileptology

International audienceOBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified. RESULTS: Twenty six patients (13 female) from 26 families were identified, with mean age 7 years (range = 1 month to 21 years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14/26) or severe (11/26). Patients presented with focal motor (12/26), unknown onset motor (5/26), focal impaired awareness (1/26), absence (2/26), myoclonic (2/26), myoclonic-atonic (1/26), and generalized tonic-clonic (2/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. Mean age at seizure onset was 13 months (birth to 10 years), with a lower mean onset in DEE (7 months) compared with ID+E (33 months). Patients with DEE had drug-resistant epilepsy, compared to 4/6 ID+E patients, who were seizure-free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty-seven of 34 variants were novel. Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures. SIGNIFICANCE: PIGN encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment

Are hospitalized or ambulatory patients with heart failure treated in accordance with European Society of Cardiology guidelines? Evidence from 12 440 patients of the ESC Heart Failure Long-Term Registry.

AIMS: To evaluate how recommendations of European guidelines regarding pharmacological and non-pharmacological treatments for heart failure (HF) are adopted in clinical practice. METHODS AND RESULTS: The ESC-HF Long-Term Registry is a prospective, observational study conducted in 211 Cardiology Centres of 21 European and Mediterranean countries, members of the European Society of Cardiology (ESC). From May 2011 to April 2013, a total of 12 440 patients were enrolled, 40.5% with acute HF and 59.5% with chronic HF. Intravenous treatments for acute HF were heterogeneously administered, irrespective of guideline recommendations. In chronic HF, with reduced EF, renin-angiotensin system (RAS) blockers, beta-blockers, and mineralocorticoid antagonists (MRAs) were used in 92.2, 92.7, and 67.0% of patients, respectively. When reasons for non-adherence were considered, the real rate of undertreatment accounted for 3.2, 2.3, and 5.4% of the cases, respectively. About 30% of patients received the target dosage of these drugs, but a documented reason for not achieving the target dosage was reported in almost two-thirds of them. The more relevant reasons for non-implantation of a device, when clinically indicated, were related to doctor uncertainties on the indication, patient refusal, or logistical/cost issues. CONCLUSION: This pan-European registry shows that, while in patients with acute HF, a large heterogeneity of treatments exists, drug treatment of chronic HF can be considered largely adherent to recommendations of current guidelines, when the reasons for non-adherence are taken into account. Observations regarding the real possibility to adhere fully to current guidelines in daily clinical practice should be seriously considered when clinical practice guidelines have to be written