GENETIČKI DIZAJNIRANA POBJEDA? - GENETIKA, SPORT I PRAVNO ODREĐENJE

Certain gene variants in the human genome (polymorphism of common genes or alleles) give a comparative advantage in performing physical activities. Some of them are directly related to the structure of skeletal muscles and the ratio of white and red fibres in them. It has long been known that marathoners have a different body constitution than sprinters and that the endurance of the former is based on lower body mass and a high percentage of red muscle fibres, and the explosive power of the latter on larger muscles and the percentage of white muscle fibres. The genetic makeup of muscle is not the sole source of athletes’ advantage - genes that control the stress response affect physical strength but also the mental ability to cope with the pressure. Moreover, in sports competitions, genetic variations that lead to disease and, ultimately, injury or even death may give some specific physical advantage. In the case of Marfan’s syndrome, persons with this gene variant have long limbs and elastic joints, which is preferred especially in ball sports, which makes them recognized by coaches. Unfortunately, playing sports increases their risk of dilatation and dissection of the aorta, as a result of its wall extensibility. The human body has its physical limits that can be pushed by strenuous training. This stretching of the ‘physical boundaries’ must be paired with a suitable regeneration time for the effect to be greater than the possible damage. Also, time for regeneration is often denied to the most successful competitors who enter from one round of the competition to the next - as is the case at the World Cup. In not a small number of cases, success is traded with speedy metabolic aging and deterioration of health due to injuries. Given the fact that the value of top athletes is measured by money and reputation, there is an understandable interest in new methods to make their careful selection and personalize their training and diet. Our current understanding of molecular genetics is at such a stage that its application is possible and a tempting option for top sports. The advent of CRISPER technology goes a step further and allows the design of as yet unseen human abilities. Although the genetic application is in its infancy, sport organizations have to take a stand on which tests and which interventions are bioethically justified in sport competition and which are absolutely unacceptable. The big question is – what is a legal regulation of the same issue? Is the law following (bio)ethically determined state? Generally speaking, it is important to investigate what are exact legal acts that are connected with genetics in the first place and then with the combination of genetics and sport. Also, the goal is to examine whether the relevant legal acts are forbidding any kind of altering of human genome, in general and in sport. Can it be said that the law is one of the major stopping-mediums and “dams” of the complete genetic research that tends to be transhuman?Određene genske varijante (aleli), daju komparativnu prednost kod obavljanja fizičkim aktivnostima. Neki od njih izravno su povezani sa gradom mišića odnosno omjerom bijelih i crvenih vlakana. Odavno je poznato da maratonci imaju drugačiju tjelesnu građu od sprintera te da se izdržljivost prvih temelji na nižoj tjelesnoj masi i visokom postotku crvenih mišićnih vlakana, a eksplozivna snaga potonjih na većim mišićima i postotku bijelih mišićnih vlakana. Genetička podloga sastava mišića nije jedini izvor prednosti nekog sportaša – primjerice geni koji kontroliraju stresni odgovor utječu na fizičku snagu, ali i na mentalnu sposobnost nošenja s pritiskom. Štoviše, u sportskim natjecanjima, varijacije gena koje dovode do bolesti, a u konačnici do ozljede ili čak smrti, mogu pružati određenu fizičku prednost. U slučaju Marfanovog sindroma, osobe s ovom varijacijom gena imaju dugačke udove i elastične zglobove, koji predstavljaju prednost osobito u sportovima s loptom, radi čega budu prepoznati od strane trenera. Na žalost, bavljenje sportom povećava im rizik od dilatacije i disekcije aorte kao posljedice rastezljivosti njene stijenke. Ljudsko tijelo ima svoje fizičke granice koje se napornim treninzima mogu pomaknuti. Ovo rastezanje ‘fizičkih granica’ mora biti upareno s prikladnim vremenom regeneracije da bi učinak bio veći od moguće štete. Također, vrijeme za regeneraciju se često uskraćuje najuspješnijim natjecateljima koji ulaze iz jednog kruga natjecanja u drugi - kao što je slučaj na Svjetskom prvenstvu. U ne malom broju slučajeva, cijena uspjeha ubrzano je metaboličko starenje i pogoršanje zdravlja zbog ozljeda. S obzirom na činjenicu da se vrijednost vrhunskih sportaša mjeri novcem i ugledom, razumljiv je interes za nove metode njihovog pažljivog odabira, prilagođavanje treninga i prehrane. Naše trenutno razumijevanje molekularne genetike u takvoj je fazi da je njezina primjena moguća i primamljiva opcija u vrhunskim sportovima. Pojava CRISPER tehnologije ide korak dalje i omogućuje dizajn još neviđenih ljudskih sposobnosti. Iako je genetska primjena još u povojima, sportske organizacije moraju zauzeti stav o tome koji su testovi i koji zahvati bioetički opravdani u sportskom natjecanju, a koji su apsolutno neprihvatljivi. Veliko je pitanje i – kakva je pravna regulacija istog problema? Slijedi li pravo bioetički utvrđeno stanje? Općenito govoreći, važno je istražiti koji pravni akti su u prvom redu povezani s genetikom, a zatim s kombinacijom genetike i sporta. Također, cilj je ispitati da li relevantni pravni akti zabranjuju bilo kakvu promjenu ljudskog genoma, općenito a zatim u kontekstu sporta. Možemo li se reći da je zakon jedan od glavnih zaustavnih medija i “prepreka” cjelovitim genetskim istraživanjima koja teže transhumanizaciji

GENETIČKI DIZAJNIRANA POBJEDA? - GENETIKA, SPORT I PRAVNO ODREĐENJE

Certain gene variants in the human genome (polymorphism of common genes or alleles) give a comparative advantage in performing physical activities. Some of them are directly related to the structure of skeletal muscles and the ratio of white and red fibres in them. It has long been known that marathoners have a different body constitution than sprinters and that the endurance of the former is based on lower body mass and a high percentage of red muscle fibres, and the explosive power of the latter on larger muscles and the percentage of white muscle fibres. The genetic makeup of muscle is not the sole source of athletes’ advantage - genes that control the stress response affect physical strength but also the mental ability to cope with the pressure. Moreover, in sports competitions, genetic variations that lead to disease and, ultimately, injury or even death may give some specific physical advantage. In the case of Marfan’s syndrome, persons with this gene variant have long limbs and elastic joints, which is preferred especially in ball sports, which makes them recognized by coaches. Unfortunately, playing sports increases their risk of dilatation and dissection of the aorta, as a result of its wall extensibility. The human body has its physical limits that can be pushed by strenuous training. This stretching of the ‘physical boundaries’ must be paired with a suitable regeneration time for the effect to be greater than the possible damage. Also, time for regeneration is often denied to the most successful competitors who enter from one round of the competition to the next - as is the case at the World Cup. In not a small number of cases, success is traded with speedy metabolic aging and deterioration of health due to injuries. Given the fact that the value of top athletes is measured by money and reputation, there is an understandable interest in new methods to make their careful selection and personalize their training and diet. Our current understanding of molecular genetics is at such a stage that its application is possible and a tempting option for top sports. The advent of CRISPER technology goes a step further and allows the design of as yet unseen human abilities. Although the genetic application is in its infancy, sport organizations have to take a stand on which tests and which interventions are bioethically justified in sport competition and which are absolutely unacceptable. The big question is – what is a legal regulation of the same issue? Is the law following (bio)ethically determined state? Generally speaking, it is important to investigate what are exact legal acts that are connected with genetics in the first place and then with the combination of genetics and sport. Also, the goal is to examine whether the relevant legal acts are forbidding any kind of altering of human genome, in general and in sport. Can it be said that the law is one of the major stopping-mediums and “dams” of the complete genetic research that tends to be transhuman?Određene genske varijante (aleli), daju komparativnu prednost kod obavljanja fizičkim aktivnostima. Neki od njih izravno su povezani sa gradom mišića odnosno omjerom bijelih i crvenih vlakana. Odavno je poznato da maratonci imaju drugačiju tjelesnu građu od sprintera te da se izdržljivost prvih temelji na nižoj tjelesnoj masi i visokom postotku crvenih mišićnih vlakana, a eksplozivna snaga potonjih na većim mišićima i postotku bijelih mišićnih vlakana. Genetička podloga sastava mišića nije jedini izvor prednosti nekog sportaša – primjerice geni koji kontroliraju stresni odgovor utječu na fizičku snagu, ali i na mentalnu sposobnost nošenja s pritiskom. Štoviše, u sportskim natjecanjima, varijacije gena koje dovode do bolesti, a u konačnici do ozljede ili čak smrti, mogu pružati određenu fizičku prednost. U slučaju Marfanovog sindroma, osobe s ovom varijacijom gena imaju dugačke udove i elastične zglobove, koji predstavljaju prednost osobito u sportovima s loptom, radi čega budu prepoznati od strane trenera. Na žalost, bavljenje sportom povećava im rizik od dilatacije i disekcije aorte kao posljedice rastezljivosti njene stijenke. Ljudsko tijelo ima svoje fizičke granice koje se napornim treninzima mogu pomaknuti. Ovo rastezanje ‘fizičkih granica’ mora biti upareno s prikladnim vremenom regeneracije da bi učinak bio veći od moguće štete. Također, vrijeme za regeneraciju se često uskraćuje najuspješnijim natjecateljima koji ulaze iz jednog kruga natjecanja u drugi - kao što je slučaj na Svjetskom prvenstvu. U ne malom broju slučajeva, cijena uspjeha ubrzano je metaboličko starenje i pogoršanje zdravlja zbog ozljeda. S obzirom na činjenicu da se vrijednost vrhunskih sportaša mjeri novcem i ugledom, razumljiv je interes za nove metode njihovog pažljivog odabira, prilagođavanje treninga i prehrane. Naše trenutno razumijevanje molekularne genetike u takvoj je fazi da je njezina primjena moguća i primamljiva opcija u vrhunskim sportovima. Pojava CRISPER tehnologije ide korak dalje i omogućuje dizajn još neviđenih ljudskih sposobnosti. Iako je genetska primjena još u povojima, sportske organizacije moraju zauzeti stav o tome koji su testovi i koji zahvati bioetički opravdani u sportskom natjecanju, a koji su apsolutno neprihvatljivi. Veliko je pitanje i – kakva je pravna regulacija istog problema? Slijedi li pravo bioetički utvrđeno stanje? Općenito govoreći, važno je istražiti koji pravni akti su u prvom redu povezani s genetikom, a zatim s kombinacijom genetike i sporta. Također, cilj je ispitati da li relevantni pravni akti zabranjuju bilo kakvu promjenu ljudskog genoma, općenito a zatim u kontekstu sporta. Možemo li se reći da je zakon jedan od glavnih zaustavnih medija i “prepreka” cjelovitim genetskim istraživanjima koja teže transhumanizaciji

Parameter identification in the mathematical model of glucose and insulin tolerance test - the mathematical markers of diabetes

Glucose tolerance test (GTT) is standard diagnostic procedure that tests the efficiency of blood glucose-lowering hormones (insulin, incretins, leptin). Contrary, insulin tolerance test (ITT) is probing efficiency of blood glucose-rising hormones (glucagon, thyroxine, growth hormone, glucocorticoids, adrenalin, noradrenalin). These two hormone systems together maintain blood glucose levels in a narrow range. Various pathophysiological mechanisms give rise to a reversible condition - prediabetes which then progresses to an irreversible chronic disease - diabetes, both marked with deviation of blood glucose levels outside the set range. In diagnostic purpose, the patient is given glucose load, and blood glucose is measured right before and 2 hours after load. Measurements are more frequent after insulin injection (ITT) or if both tests are performed on experimental animals. In this paper we analyse the mathematical model for GTT and ITT. The obtained model function is an useful tool in describing the dynamics of blood glucose changes

Aspiration During Vaccination: Evidence for SARS-CoV-2 Vaccination

Aspiration has always been performed during intramuscular vaccine injections to ensure that the needle does not puncture one of the blood vessels. However, at the beginning of the twenty-first century, this procedure became debatable. Using an advanced search builder and logical operators, we searched the PubMed database for all articles about aspiration guidelines. The deltoid blood vessels are large and diverse, with potentially dangerous changes occurring in certain groups such as athletes or people with connective tissue diseases. The pharmacokinetics and reported side effects of improperly applied vaccines differ. Some reported vaccine-related injuries, such as subacromial bursitis, can be avoided by using the aspiration technique. We discussed experiments that provide evidence that intravenous administration of mRNA vaccines can cause myopericarditis. Aspiration during vaccination is not technically demanding and does not require much time. Previous arguments against aspiration were based on efforts to make the procedure of vaccinating children less painful. In response to public concern about vaccine-induced thrombotic thrombocytopenia as a possible side effect, Denmark issued a guideline on mandatory aspiration during vaccination in March 2021. Guidelines vary by country, and there is a need for an updated and globally applicable instruction manual. Countries should carefully document vaccine side effects so that they could be compared between countries that aspirate and those who do not. More focused research experiments are needed to determine the relationship between aspiration and side effects. We propose a randomized study to compare the effectiveness of aspiration

De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p

The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1→4pter and a deletion of a chromosomal segment 8p23.1→8pter. His karyotype was determined by applying classical GTG banding and FISH method (WHCR region, centromere 4, centromere 8, telomere 8p) as 46,XY,der(8)t(4;8)(p16.1;p23.1).ish der(8)t(4;8)(D8S504-,WHCR+,D8Z2+)dn. Parents are not related and have normal karyotypes, indicating de novo origin. We have compared similarity of the clinical features in our proband to other patients carrying only a duplication of the distal part of 4p or a deletion of distal part of 8p or similar combination described in the literature

Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)

Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific associated monosomy. Clinical findings of our patient were compatible with those previously reported in dup4q and del2p patients. Herein are presented the clinical and cytogenetic findings in a 4-year-old female with an unbalanced karyotype 46,XX,der(2)t(2;4)(p25.1;q31.3)pat. Clinical phenotypes of 2p;4q translocation cases are variable, because the involved breakpoints vary case-by-case. We also compare similarity of the clinical features of our proband and other patients carrying either duplication of the distal part of 4q and patients carrying a deletion of distal part of 2p as described in the literature. To our knowledge, this is the first case of partial trisomy 4q accompanied with partial monosomy 2p

STAVOVI UČENIKA O NASTAVI PRIRODE I BIOLOGIJE ORGANIZIRANOJ U DVOSATU

S ciljem utvrđivanja stavova učenika o nastavi organiziranoj u dvosatu 2007. i 2008. godine provedeno je istraživanje s učenicima osnovne i srednje škole. Obuhvaćeni su učenici koji nastavu prirode i biologije provode u dvosatu aktivnim i klasičnim načinom rada i oni koji nastavu provode istim strategijama, ali u pojedinačnim satovima (dva sata tjedno). Istraživanje se sastojalo od provedbe ankete za učenike koja je sadržavala 32 pitanja. Rezultati ankete pokazuju da su učenici podijeljenog mišljenja o tome koja je nastava bolja, ali svi misle da se u dvosatu puno toga napravi i zapamti. Kada stavove učenika o praćenju sata i pamćenju gradiva u dvosatu analiziramo s obzirom na korištene strategije poučavanja onda uočavamo kako su učenici stava da aktivne strategije olakšavaju praćenje i pamćenje kada su primijenjene u dvosatu a klasične strategije kada su primijenjene u pojedinačnom satu. Da nastava sa stankom od tjedan dana utječe na njihovo zaboravljanje, najvećim dijelom misle učenici koji nastavu provode u dvosatu aktivnim načinom rada

STAVOVI UČENIKA O NASTAVI PRIRODE I BIOLOGIJE ORGANIZIRANOJ U DVOSATU

S ciljem utvrđivanja stavova učenika o nastavi organiziranoj u dvosatu 2007. i 2008. godine provedeno je istraživanje s učenicima osnovne i srednje škole. Obuhvaćeni su učenici koji nastavu prirode i biologije provode u dvosatu aktivnim i klasičnim načinom rada i oni koji nastavu provode istim strategijama, ali u pojedinačnim satovima (dva sata tjedno). Istraživanje se sastojalo od provedbe ankete za učenike koja je sadržavala 32 pitanja. Rezultati ankete pokazuju da su učenici podijeljenog mišljenja o tome koja je nastava bolja, ali svi misle da se u dvosatu puno toga napravi i zapamti. Kada stavove učenika o praćenju sata i pamćenju gradiva u dvosatu analiziramo s obzirom na korištene strategije poučavanja onda uočavamo kako su učenici stava da aktivne strategije olakšavaju praćenje i pamćenje kada su primijenjene u dvosatu a klasične strategije kada su primijenjene u pojedinačnom satu. Da nastava sa stankom od tjedan dana utječe na njihovo zaboravljanje, najvećim dijelom misle učenici koji nastavu provode u dvosatu aktivnim načinom rada

Vitamin D Deficiency Among Medical Students in Osijek, Croatia

Aim: This study aimed to evaluate serum levels of 25-OH D3 (calcidiol) among students of the Faculty of Medicine Osijek, Croatia, thereby determining to what extent vitamin D deficiency is present. Methods: The present cross-sectional analysis was based on data collected from 60 participants. Blood sampling was done in March 2021. Concentrations of 25-OH D3 were measured using LC/MS-MS procedure on Shimadzu LCMS 8050 and RECIPE kit for serum levels of 25-OH-D3. Results: The study was conducted on a sample of 60 respondents aged 19 to 28, of whom 16 were men and 44 were women. All subjects had a 25-OH D3 deficiency (0.05). Conclusion: Vitamin D deficiency was detected in all subjects. In addition to the results of several other studies conducted worldwide that evaluated vitamin D status among medical students, this study further highlights the problem affecting this student subgroup