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Background Hereditary myopathy with early respiratory failure (HMERF) is a rare myopathy that affects respiratory muscles in the early course of the disease leading to respiratory insufficiency. It is caused by mutation in titin (TTN) gene. Case report At the age of 29, our female patient presented with a slowly progressive proximal lower limb and axial muscle weakness and respiratory issues. Her late mother had similar problems, she died at a young age and was never properly diagnosed. Patient’s creatine kinase level was elevated up to three times above the upper limit of normal. Whole exome sequencing showed a pathogenic variant c.95372G>A in the TTN gene leading to the final diagnosis of HMERF. Cardiac examination was normal. Patient started to use a non-invasive nocturnal ventilation at age of 35. Conclusions Our case is the first described case of HMERF in Serbian population. Multidisciplinary neurological and pulmonary approach is of great importance in HMERF and similar diseases. This case highlights the importance of considering early neuromuscular respiratory insufficiency as a distinctive syndrome leading to a challenging and broad differential diagnosis.

Energy drinks (EDs) contain caffeine and other active ingredients which affect cardiovascular system. The aims of this study were to examine direct effects of Red Bull (RB) on cardiodynamics and oxidative stress in isolated hearts of rats. The rats were divided into four groups: untrained rats who never consumed ED (dEDUT); untrained rats who consumed ED 5 days a week during 4 weeks (ch+dED-UT); rats trained 5 times a week for 4 weeks, but did not consume ED (dED-T); rats trained and consumed ED 5 times a week for 4 weeks (ch+dED-T). After sacrificing, hearts were isolated and perfused according to Langendorff technique. Through the isolated heart of all rats in each group, RB was administered. The parameters of cardiac function were recorded, and the levels of prooxidants were measured in the coronary effluent during coronary autoregulation. Rats in ch+dED-UT group had significantly lower rates of myocardial contraction and relaxation compared to rats in dED-UT group. The same effect was recorded in the dED-T group compared to dED-UT group. The levels of hydrogen peroxide were significantly higher in trained rats. Rats in ch+dED-T group also had significantly higher levels of superoxide anion radical and index of lipid peroxidation, as well as lower levels of nitrites when compared to ch+dED-UT group, while opposite effect was recorded in rats in dED-T group compared to dEDUT group. The RB could have a potentially negative inotropic effect in chronic consumers. Prooxidative effect of RB was most pronounced in trained chronic consumers.

Background/Aim. Energy drinks (EDs) are widely used by athletes as ergogenic agents and Red Bull? is one of the most consumed EDs among them. The aim of this study was to determine the acute and chronic effects of Red Bull? on cardiodynamics and parameters of oxidative stress in physically trained rats. Methods. Rats were subjected to a swimming practice (1h a day, 5 days a week, for 4 weeks). They were divided into 4 groups: rats that did not consume ED either before swimming or prior to sacrificing; rats that did not consume ED before swimming but did consume ED 30 min prior to sacrificing; rats that consumed ED 30 min before every swimming training but did not consume ED prior to sacrificing; rats that consumed ED 30 min before every swimming training and 30 min before sacrificing. After sacrificing, the hearts of the rats were isolated and perfused according to the Langendorff technique. The parameters of cardiac function were recorded, and also the levels of prooxidants were measured in the coronary effluent during coronary autoregulation. Results. Acute administration of the ED had a positive inotropic effect (manifested as a significantly higher level of the maximum and minimum rate of pressure development in the left ventricle), while chronic administration affected the isolated increase in systolic left ventricular pressure. The prooxidative effect of the ED was observed, which was more pronounced in chronic consumption. Conclusion. The main conclusion of our study is that chronic consumption of ED changes the cardiovascular response and redox status in acute consumption ED.

Febrile seizures (FS) are the most common neurological disorder in childhood and are a great stress for parents due to their dramatic clinical appearance. Using test for determination of homozygously recessive characteristics in humans (HRC test) we analyzed presence, distribution, and individual combination of 20 selected genetically controlled morphophysiological traits among FS patients (N=121) and control (N=121) to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS. The results of our study show a statistically significant difference in the mean values of the HRC tested (x¯HRC/20 CN = 3.2 ± 0.2; x¯HRC/20 FS = 4.6 ± 0.2, t= 5.74 , p< 0.0001), as well as in the distribution and variability of two studied samples (VC=55,3%, VFS= 39,6%), which indicates a complex polygenic difference among the tested groups of subjects. The differences in the degree of genetic homozygosity and variability are also present between the genders (t Cf/FSf = 4.12; t Cm/FSm = 3.98; p VCf=56.9%, VFSf= 39.3%; VCm=54.1%, VFSm=40.1%). Obtained results indicate the enlargement of recessively homozygous genetic loads in the group of children with FS which may represent some kind of predisposition for expressivity of this type of seizures.

Gender affirmation surgery remains one of the greatest challenges in transgender medicine. In recent years, there have been continuous discussions on bioethical aspects in the treatment of persons with gender dysphoria. Gender reassignment is a difficult process, including not only hormonal treatment with possible surgery but also social discrimination and stigma. There is a great variety between countries in specified tasks involved in gender reassignment, and a complex combination of medical treatment and legal paperwork is required in most cases. The most frequent bioethical questions in transgender medicine pertain to the optimal treatment of adolescents, sterilization as a requirement for legal recognition, role of fertility and parenthood, and regret after gender reassignment. We review the recent literature with respect to any new information on bioethical aspects related to medical treatment of people with gender dysphoria.

INTRODUCTION AND OBJECTIVES:Insertion of penile prostheses after previously performed phalloplasty in female to male (FTM) transsexuals is essential in all patients whose main goal is to obtain rig...

To present our technique of musculocutaneous latissimus dorsi (MLD) free-flap total phalloplasty. This technically demanding female-to-male gender reassignment surgery consists of creating a neophallus from extragenital tissue.The presented technique included: removal of internal and/or external female genitalia, creation of neophallus using latissimus dorsi free flap, clitoral incorporation into the neophallus, urethral lengthening, and insertion of testicular implants into the newly created scrotum. The MLD flap with proper dimension is harvested from nondominant side and tubularized. Microvascular anastomosis is done between thoracodorsal vessels and femoral artery and saphenous vein. Neophallus is positioned in adequate place. Urethroplasty is performed by combining different genital flaps that are harvested from anterior vaginal wall, urethral plate, and both labia minora and clitoral skin. Scrotoplasty is done by joining both labia majora with implantation of testicular implants.Operative time was 427 minutes with minimal blood loss. Both donor site and graft healed well, and the patient reports voiding well while standing. Penile prosthesis implantation as well as neophallic urethroplasty are planned for the second stage.Total MLD flap phalloplasty with urethral lengthening is a challenging and complex surgical procedure. This technique presents good variant for female transgenders with acceptable cosmetic outcome and enables good volume of neophallus, sexual arousal, and voiding while standing.

Gender affirmation surgery remains one of the greatest challenges in transgender medicine. In recent years, there have been continuous discussions on bioethical aspects in the treatment of persons with gender dysphoria. Gender reassignment is a difficult process, including not only hormonal treatment with possible surgery but also social discrimination and stigma. There is a great variety between countries in specified tasks involved in gender reassignment, and a complex combination of medical treatment and legal paperwork is required in most cases. The most frequent bioethical questions in transgender medicine pertain to the optimal treatment of adolescents, sterilization as a requirement for legal recognition, role of fertility and parenthood, and regret after gender reassignment. We review the recent literature with respect to any new information on bioethical aspects related to medical treatment of people with gender dysphoria.

2 , Slađana Todorovic 3 , Vladimir Jakovljevic 1 , Dejan Cubrilo 4 , Dragan Đuric 5 , Đorđe Stefanovic 1 , Vladimir Živkovic 1 , Nevena Barudzic 1 , Dusica Đorđevic 1 1 Katedra za fi ziologiju, Fakultet medicinskih nauka, Univerzitet u Kragujevcu, Kragujevac, Srbija 2 Katedra za rukomet, Fakultet sporta i fi zickog vaspitanja, Univerzitet u Beogradu, Beograd, Srbija 3 Služba za zdravstvenu statistiku, Dom zdravlja Cuprija, Cuprija, Srbija 4 Katedra za Fiziologiju, Fakultet za sport i turizam, Univerzitet Edukons, Novi Sad, Srbija 5 Institut za fi ziologiju Rihard Burijan, Medicinski fakultet, Univerzitet u Beogradu, Srbija ABSTRACT Although the relationship between exercise and oxidative stress has been intensively investigated for over 3 decades, there remains a lack of empirical data on exercise-induced oxidative stress in athletes engaged in sporting games, spe- cifi cally among the population of elite female athletes. Blood samples were taken from female handball players on the Serbian U20 national team at the beginning and end of a one-month preparatory training period, as well as immedi- ately before and after acute treadmill exercise. Levels of su- peroxide anion radical, hydrogen peroxide, nitric oxide and lipid peroxidation were measured in plasma samples , while levels of reduced glutathione and the activity of superoxide dismutase and catalase were measured in erythrocytes. Both experimental protocols demonstrated signifi cant increases in plasma levels of hydrogen peroxide and decreases in super- oxide dismutase activity in erythrocytes. Despite the increase in plasma levels of hydrogen peroxide after both the treadmill exercise and the one-month training period, the levels of the two antioxidants responsible for eliminating H 2 O 2 hydrogen peroxide were not signifi cantly diff erent, as may be expected. Moreover, the marker of lipid peroxidation, TBARS, was not signifi cantly increased. Th ese fi ndings suggest that the fi rst line of antioxidative defence was eff ective in the prevention of oxidative stress among young female handball players.