WHAT ADVICE SHOULD BE GIVEN TO PEOPLE WITH EPILEPSY – PHYSICAL ACTIVITY, YES OR NO?

People with epilepsy (PWE) face numerous difficulties. Because of the complicity of the disease, a thorough treatment of those patients requires a multidisciplinary approach. One of the important aspects such approach should take into account is the quality of life of PWE. Apart from the pharmacological solutions, it is necessary to further search for non-pharmacological ones. In addition to raising education and level of awareness this means dealing with physical activity due to numerous benefits. Sometimes doctors themselves do not know how to assess risks and benefits, and in order to protect the patients, advise that it is best not to engage in any sport, thereby contributing to the vicious circle - fear - stigma - poor quality of life. The aim of this paper is to unify the experiences of various researchers on this topic, to point out the many difficulties that PWE meet, and to define guidelines in the workplace. We will try to answer a commonly posed question which sometimes in practice remain unclarified, that is - whether epilepsy patients should be involved in sports, if so - which sport, and what intensity of physical activity would be allowed, can they participate in the competitions. In order to provide patients with a decent life quality it is necessary to work on the education of patients and doctors, and the society as well. While giving recommendations, it is necessary to follow the guidelines, among which are the most comprehensive ones were created by the International League Against Epilepsy (ILAE) in 2016

AXIOLOGICAL AND TELEOLOGICAL FRAMEWORK OF ENTREPRENEURSHIP

Aksiološki i teleološki okvir daje filozofiji poduzetništva relevantne odgovore na pitanja o pravim vrijednostima i njezinoj svrhovitosti. Poduzetništvo se preusko definira kao ekonomski proces ili kao proces stvaranja nečega od oskudnih resursa. Baza materijalnih rezultata, kao i aktivnih, procesnih efekata, leži upravo u pravilnom definiranju poduzetništva s aksiološkog i teleološkog aspekta. Kombiniranjem navedenih dvaju pristupa, stvaraju se temelji za spoznaju o poduzetništvu kao univerzalnoj društvenoj vrijednosti koja ima svoje ciljeve. Upravo se u segmentu (ne)pravilne spoznaje poduzetništva javljaju devijantna društvena ponašanja, misleći da je poduzetništvo izolirano, ekonomsko i procesno područje za koje nije potrebna dublja spoznaja i dalekosežna implikacija u sve društvene pore. Poduzetništvo, kao društvena vrijednost, čiji je cilj opći razvoj i blagostanje, započinje pravilnim definiranjem njegovih vrijednosti i svrhe. Drugi je korak, u snažnoj korelaciji s vrijednostima i svrhovitošću – odgoj za poduzetništvo. Kao osnovne vrijednosti mogli bismo navesti: društvenu i socijalnu odgovornost, odgovornost prema okolišu, znanje, samostalnost, opću odgovornost, identitet, pozitivne stavove, kulturu i druge. Osnovni je cilj, odnosno svrha, stvaranje sveopćih uvjeta za dostizanje vrijednosti. I odatle treba krenuti te mrežnom tehnikom deducirati vrijednosti prije svega u odgoj i obrazovanje i postepeno implementirati u sve društvene segmente i na kraju u samu ekonomiju. Rezultati navedene tehnologije djeluju i povratno, induktivno, tako da pozitivne vrijednosti evoluiraju te u takvom dijalektičkom odnosu „stvaraju“ bolje društvo, bolje poduzetništvo. Tako se dugoročno stvara pozitivno okružje bazirano na pravim, ljudskim vrijednostima, a bez ekscesnih poduzetničkih aktivnosti.Axiological and teleological framework gives relevant answers to the philosophy of entrepreneurship on questions about the true values and its purpose. Entrepreneurship is defined too narrow as an economic process or a process of creating something out of limited resources. The base of material results, as well as active, process effects, lies in the proper definition of entrepreneurship with axiological and teleological aspects. Combining two approaches mentioned above, base for the knowledge about entrepreneurship as a universal social value which has its own goals is created. Deviant social behavior occurs in the segment of (in)correct comprehension about entrepreneurship, thinking that entrepreneurship is isolated, economic and process area that does not require deeper knowledge and far-reaching implications in all social pores. Entrepreneurship, as a social value which aims overall development and well-being, starts with the correct definition of its values and purposes. The second step is strongly correlated with the values and purposefulness - education for entrepreneurship. Social responsibility, environmental responsibility, knowledge, independence, general responsibility, identity, positive attitudes, culture and others could be named as the core values. The main objectives and the purpose is to create universal conditions for reaching these values. That should be the starting point and then with the use of network technique it is necessary to deduce the values primarily in education and gradually implementing it in all social segments, and in the end, in the economy itself. Results of that technology work reversely or inductive as well, so that positive values evolve and in such a dialectical relationship "create" a better society, a better entrepreneurship. So, in the long run this creates a positive environment based on the real, human values and without excessive entrepreneurial activities

Predictability of Lead-210 in Surface Air Based on Multivariate Analysis

Dependence of the lead-210 activity concentration in surface air on meteorological variables and teleconnection indices is investigated using multivariate analysis, which gives the Boosted Decision Trees method as the most suitable for variable analysis. A mapped functional behaviour of the lead-210 activity concentration is further obtained, and used to test predictability of lead-210 in surface air. The results show an agreement between the predicted and measured values. The temporal evolution of the measured activities is satisfactorily matched by the prediction. The largest qualitative differences are obtained for winter months.3rd International Conference on Radiation and Applications in Various Fields of Research (RAD), Jun 08-12, 2015, Budva, Montenegr

Predictability of Lead-210 in Surface Air Based on Multivariate Analysis

Dependence of the lead-210 activity concentration in surface air on meteorological variables and teleconnection indices is investigated using multivariate analysis, which gives the Boosted Decision Trees method as the most suitable for variable analysis. A mapped functional behaviour of the lead-210 activity concentration is further obtained, and used to test predictability of lead-210 in surface air. The results show an agreement between the predicted and measured values. The temporal evolution of the measured activities is satisfactorily matched by the prediction. The largest qualitative differences are obtained for winter months.3rd International Conference on Radiation and Applications in Various Fields of Research (RAD), Jun 08-12, 2015, Budva, Montenegr

Endangered species’ trait responses to environmental variability in agricultural settings

Understanding the spatial and temporal effects of variable environmental conditions on demographic characteristics is important in order to stop the decline of endangered-species populations. To capture interactions between a species and its environment, in this work the demographic traits of the European ground squirrel (EGS), Spermophilus citellus, were modeled as a function of agricultural landscape structure. The habitat suitability index was determined for 20 localities within the study area based on habitat use, management and type. After mapping the habitat patch occupancy in the field, crop cover maps, the average normalized difference vegetation index (NDVI) and automated water extraction index (AWEI) were obtained from satellite images covering the period 2013-2015. This data was used to develop population-level generalized linear models (GLMs) and individual-level conditional mixed-effects models (GLMMs) in R package Ime4, focusing on the key demographic traits of the EGS. The land composition and patch carrying capacity (PCC) are the key determinants of the endangered EGS population size, while system productivity is the main factor influencing individuals’ body condition after monitoring for variations across sampling years and age classes. The proposed landscape structural models show that human activities and abiotic factors shape the demographic rates of the EGS. Thus, to conserve threatened species, an appropriate focus on the spatial adaptation strategies should be employed

Procena psihomotornog razvoja dece s Vestovim sindromom

Introduction. West Syndrome (WS) is age-related epileptic encephalopathy characterised by a triad of symptoms: specific seizure type, pathognomonic electroencephalographic (EEG) pattern - hypsarrhythmia and delay and/or regression in psychomotor development (PMD). Aetiologically, it occurs in three forms: symptomatic, cryptogenic and idiopathic. Objective. Estimation of PMD in children with WS according to aetiology. Methods. The observed group consisted of 65 children. Age range was between 6 and 30 months. The patients were divided into three groups according to aetiology. All patients underwent psychological examination with Brunet-Lesine test, as well as PMD evaluation based on achieved developmental milestones for the corresponding age. Results. Statistically significant better values in the Human Developmental Index (HDI) had patients with idiopathic compared to other forms of WS, at testing after 12 months (93.0±8.1 vs. 46.8±6.1 vs. 45.6±3.8), as well as after 24 months (93.9±7.7 vs. 51.9±5.5 vs. 50.9±4.4). The best values of HDI after 24 months had patients with improvement in PMD with the average of 66.2±4.4, which was statistically significant compared to those with unchanged PMD (41.5±5.3) and with further regression in PMD (28.3±4.4). Significant correlation was obtained between PMD after 12 and 24 months (r=0.477), as well as a considerable improvement in HDI from the 12th to 24th month (49.4±4.0 vs. 53.7±3.9). Conclusion. The patients with idiopathic WS accomplished the best PMD. Improvement in PMD after 12 and 24 months of treatment was associated with improved HDI. Improvement in PMD was observed in all patients after 2 years of follow-up.Uvod. Vestov (West) sindrom (VS) je uzrasno zavisna epileptična encefalopatija koju odlikuje trojstvo simptoma: specifičan obrazac napada, tipičan elektroencefalografski (EEG) obrazac - hipsaritmija i zastoj, odnosno regresija u psihomotornom razvoju (PMR). Etiološki, javlja se u tri oblika: simptomatskom, kriptogenom i idiopatskom. Cilj rada. Cilj istraživanja bila je procena PMR dece sa VS u odnosu na etiologiju. Metode rada. Ispitivanu grupu činilo je 65 dece sa VS uzrasta 6-30 meseci. Bolesnici su svrstani u tri grupe prema etiologiji oboljenja. Svi su podvrgnuti psihološkom testiranju Brine-Lesinovim (Brunet- Ljsine) testom i proceni PMR na osnovu ostvarivanja miljokaza razvoja. Rezultati. Statistički značajno bolju vrednost indeksa razvoja (IR) ostvarili su bolesnici s idiopatskim oblikom VS, kako pri testiranju posle 12 meseci (93,0±8,1 prema 46,8±6,1 prema 45,6±3,8), tako i nakon 24 meseca kliničkog praćenja (93,9±7,7 prema 51,9±5,5 prema 50,9±4,4). Najbolje vrednosti IR posle 24 meseca postigli su bolesnici s napretkom u PMR, kod kojih je srednja vrednost ovog parametra bila 66,2±4,4, što je bilo statistički značajno u odnosu na bolesnike s nepromenjenim PMR (41,5±5,3) i regresijom u PMR (28,3±4,4). Dobijena je značajna korelacija između PMR posle godinu dana i dve godine (r=0,477), a uočeno je i značajno poboljšanje vrednosti IR između 12. i 24. meseca (49,2±4,0 prema 53,7±3,9). Zaključak. Deca s idiopatskim oblikom VS ostvaruju najbolji PMR. Napredak u PMR posle 12 meseci i 24 meseca lečenja bio je udružen sa boljim IR. Kod svih bolesnika uočen je napredak u PMR posle dve godine lečenja

One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project

Spinal muscular atrophy (SMA) is the most common genetic cause of death in childhood. Innovative therapies show the greatest benefit only when administered in the presymptomatic period, making newborn screening an ethical and medical priority in many countries. In 2022 Centre for Human Molecular Genetics initiated a feasibility study of the newborn screening for SMA in close collaboration with the University Children's Hospital Tirsova, Association SMA Serbia and with financial support from Novartis Gene Therapies, Roche and Biogen/Medis Pharma aiming to screen up to 8000 babies from the Obstetrics and Gynaecology Clinic Narodni Front during one year. A total of 6950 newborns were tested and SMA was confirmed in two unrelated newborns from families with no history of SMA. A 16-month old sibling of the first baby was also tested, even though he was completely asymptomatic, and SMA was also confirmed. Average time between birth and the first screen-positive result was 5 days, and 8 days between birth and final confirmation of diagnosis. All three children received modifying therapies in less than 10 days from final diagnosis. So far, no false-negatives have been reported among the newborns who tested negative in the screening. As pioneers and leaders in this field, we created synchronised work at different levels of healthcare system, established screening and diagnostic algorithms and follow-up protocols. We are currently involved in scaling up screening to include an additional maternity hospital and preparing the ground for the implementation of the newborn screening for SMA as the official national screening program.BOOK OF ABSTRACTS: 8th CONGRESS OF SERBIAN NEUROSCIENCE SOCIETY with international participation 31 May – 2 June 2023. Belgrade, Serbi

Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period

Background: Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening. Materials and methods: In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn screening for SMA, working closely alongside the University Children’s Hospital Tirsova and Association SMA Serbia. The aim was to lay the foundation for the implementation of statewide newborn screening for SMA in Serbia by conducting screening for ~8000 infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a year. Results: In the initial year, 6950 newborns underwent testing, revealing SMA in two unrelated infants and in an asymptomatic 16-month old sibling of the first newborn. All three children received therapeutic interventions in <1 month from birth. To date, they have exhibited no signs of SMA, and there have been no false-negative outcomes among the newborns who tested negative during the screening. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across various tiers of healthcare, established screening and diagnostic algorithms and follow-up protocols. In the second year, we included a maternity hospital beyond Belgrade, introducing sample shipping via mail and extending screening accessibility to a greater number of infants. This resulted in 9800 infants undergoing testing within 16 months. Currently, we are actively preparing for the official incorporation of newborn screening for SMA into the national screening program. Conclusions: Timely detection and treatment can transform SMA into a manageable condition.ABSTRACT BOOK: “Genetic Diseases from Diagnostics to Prevention and Therapy” October 05-14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023; Skopje, October 05-07, 202

Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening

Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the medical and ethical significance of newborn screening. In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn screening for SMA, working closely alongside the University Children’s Hospital Tirsova and Association SMA Serbia. The aim was to lay the foundation for the implementation of statewide newborn screening for SMA in Serbia by conducting screening for ~8000 infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a year. In the subsequent year, we expanded the initiative to include another maternity hospital located outside Belgrade, introducing sample shipment via postal services and extending screening accessibility to a greater number of infants. In the initial year, 6 950 newborns underwent testing, revealing SMA in two unrelated infants. Subsequently, an older sibling of the first newborn, although asymptomatic at the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed in this child as well. All three children received therapeutic interventions in <1 month from birth. To date, they have exhibited no signs of SMA, and there have been no false negative outcomes among the newborns who tested negative during the screening. In the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across various tiers of healthcare, established screening and diagnostic algorithms and follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness among all stakeholders about the critical importance of early disease detection. In this transformative journey, we transitioned from being isolated individuals and visionaries who championed a singular idea to an entire community and nation that now acknowledges the paramount significance of newborn screening. As a result, a total of 11 950 infants underwent testing during the 17-month pilot project, culminating in the rapid incorporation of newborn screening for SMA into the national screening program, effective as of September 14th 2023. Timely detection and treatment can transform SMA into a manageable condition, and there is substantial evidence supporting its inclusion in state-wide screening programs.4th International Congress on Spinal Muscular Atrophy, from 14th to 16th March 2024 in Ghent, Belgiu

Neurofilament as a biomarker of response to genetically designed therapies for spinal muscular atrophy

Considering the substantial impact of genetic therapies for spinal muscular atrophy (SMA), longitudinal follow-up of patients undergoing treatment is crucial to effectively monitor treatment response. While functional rating scales are commonly used as primary outcome measures, they may not fully capture all the therapeutic benefits. To address this limitation, the phosphorylated neurofilament heavy chain (pNFH) protein has emerged as a promising biomarker for evaluating treatment response. pNF-H is a neuron- specific filament that exhibits increased levels in the cerebrospinal fluid (CSF) and plasma in the presence of neuronal degeneration. Our study includes individuals treated with Nusinersen (CSF and plasma samples) and Risdiplam (plasma), as well as age- and sex-matched control subjects (CSF and plasma). By examining the dynamics of pNF-H levels in these groups, we sought to identify significant differences indicative of treatment response. Before treatment, SMA individuals typically exhibit higher levels of pNF-H compared to non-SMA individuals. Elevated levels of pNF-H are associated with more severe clinical manifestations of the disease. During Nusinersen treatment, a notable decline in pNF-H levels during the first 2 months can be observed. Current findings suggest that genetic therapies have a notable impact on reducing pNF-H levels over time. By examining the changes in pNF-H levels, our study offers valuable insights into the underlying biochemical alterations associated with these therapies. Furthermore, it supports the use of pNF-H as a complementary measure to functional rating scales and as a potential biomarker for evaluating treatment effectiveness and monitoring disease progression in SMA