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

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

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

Rat Sciatic Nerve Crush Injury and Recovery Tracked by Plantar Test and Immunohistochemistry Analysis

An experimental crush injury to the sciatic nerve, with a crush force of 49.2 N (pressure p=1.98x108 Pa), was inflicted in 30 male rats (Wistar). A control group (sham), with the same number of rats, was also operated upon exactly as the experimental group but without the crush injury. We tested the sensory and motor recovery of the sciatic nerve with Hargreaves method, using an apparatus from Ugo Basile, Italy. Testing was continued for both legs of each rat, injured and uninjured, starting preoperatively (0 day), and then 1, 7, 14, 21, and 28 days postoperatively. The same experiment was run simultaneously with the sham group. The Plantar test showed recovery of the sensory and motor function of the sciatic nerve, though not complete recovery, by 28 days. An immunohistochemical experiment was run in parallel with the plantar test on L3-L6 segments of the spinal cord from where the sciatic nerve extends. We used antibodies for Myelin-associated glycoprotein (MAG), and gangliosides GD1a and GT1b on the aforesaid part of the spinal cord. The immunohistochemical methods showed changes in sensory and motor axons in the spinal cord segment L3-L6 which suggest correspondence with the results of the Plantar test, in terms of recovery of the sensory and motor function after injury of the sciatic nerve. The immunohistochemical results also show ipsilateral and contralateral changes following injury. Results of the plantar test are suggestive that the rat shows compensation for an injury in its contralateral leg

Povezanost cirkadijalnog ritma s infarktom miokarda

Cardiovascular diseases are the world’s leading cause of death. Human physiologic activities and state during illness are under the control of circadian rhythm. The aim of the study was to determine the potential association of chronotype and daytime sleepiness with susceptibility to myocardial infarction. We conducted a case-control study on 200 patients hospitalized due to myocardial infarction and 200 healthy controls. Systematic information on the past and present medical history was obtained from all participants. Chronotype was assessed using the Morningness-Eveningness Questionnaire (MEQ), and daytime sleepiness was assessed by the Epworth Sleepiness Scale (ESS). The mean age of the study population was 64±13 years, and 54.5% were male. There was no significant difference in MEQ (58.88±6.52 vs. 58.46±7.78, p=0.601) or ESS (5 (interquartile range, IQR 4-7.5) vs. 6 (IQR 3-8), p=0.912) score between patients and controls. Nevertheless, we found statistically significant differences related to risk factors for cardiovascular diseases, such as hypertension, dyslipidemia, and diabetes mellitus. However, there was no association of MEQ and ESS score with myocardial infarction in the study population.Kardiovaskularne bolesti su vodeći uzrok smrtnosti u svijetu. Pod kontrolom cirkadijalnog sata su humana fiziologija i fiziološka stanja tijekom bolesti. Cilj ovoga istraživanja bio je utvrditi potencijalnu povezanost kronotipa i dnevne pospanosti s infarktom miokarda. Provedeno je istraživanje slučajeva i kontrola na 200 bolesnika s infarktom miokarda te 200 zdravih kontrolnih ispitanika. Od svih ispitanika prikupljeni su podaci o prošloj i trenutnoj medicinskoj anamnezi. Kronotip je procijenjen pomoću upitnika MEQ (Morningness-Eveningness Questionnaire), a dnevna pospanost pomoću Epworthove ljestvice pospanosti (ESS, Epworth Sleepiness Scale). Prosječna životna dob ispitivane populacije bila je 64±13 godina, a 54,5% ispitanika činili su muškarci. Statistički značajna razlika nije pronađena između bolesnika i kontrola u kronotipu (58,88±6,52 nasuprot 58,46±7,78; p=0,601) i dnevnoj pospanosti (5 (IQR 4-7,5) nasuprot 6 (IQR 3-8); p=0,912). Unatoč tome, pronađena je statistički značajna razlika povezana sa čimbenicima rizika za kardiovaskularne bolesti kao što su hipertenzija, dislipidemija i dijabetes. Međutim, u ovom istraživanju nije utvrđena povezanost kronotipa i dnevne pospanosti s infarktom miokarda