Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes. Since patients continue to experience seizures due to a pharmacoresistance, an early clinical diagnosis associated with specific genetic testing in SLC2A1 pathogenic variants in clinical phenotypes could predict pure drug response and might improve safety and efficacy of treatment with the initiation of an alternative energy source including ketogenic or analog diets in such patients providing individualized strategy approaches.
AIM:Blocking effect of leukotriene biosynthesis–zileuton and blocking the effect of phosphodiesterase enzyme–diprophylline in the treatment of patients with bronchial asthma and bronchial increased reactivity, and tiotropium bromide as an antagonist of the muscarinic receptor studied in this work.METHODS:Parameters of the lung function are determined with Body plethysmography. The resistance of the airways (Raw) was registered and measured was intrathoracic gas volume (ITGV), and specific resistance (SRaw) was also calculated. For the research, administered was zileuton (tabl. 600 mg) and diprophylline (tabl. 150 mg).RESULTS:Two days after in-house administration of leukotriene biosynthesis blocker–zileuton (4 x 600 mg orally), on the day 3 initial values of patients measured and afterwards administered 1 tablet of zileuton, and again measured was Raw and ITGV, after 60, 90 and 120 min. and calculated was SRaw; (p < 0.01). Diprophylline administered 7 days at home in a dose of (2 x 150 mg orally), on the day 8 to same patients administered 1 tablet of diprophylline, and performed measurements of Raw, ITGV, after 60, 90 and 120 min, and calculated the SRaw (p < 0.05). Treatment of the control group with tiotropium bromide - antagonist of the muscarinic receptor (2 inh. x 0.18 mcg), is effective in removal of the increased bronchomotor tonus, by also causing the significant decrease of the resistance (Raw), respectively of the specific resistance (SRaw), (p < 0.05).CONCLUSION:Effect of zileuton in blocking of leukotriene biosynthesis is not immediate after oral administration, but the effect seen on the third day of cys-LTs’ inhibition, and leukotriene B4 (LTB4) and A4 (LTA4) in patients with bronchial reactivity and bronchial asthma, which is expressed with a high significance, (p < 0.01). Blockage of phosphodiesterase enzyme–diprophylline decreases the bronchial reactivity, which is expressed with a moderate significance, (p < 0.05).
BACKGROUND:Coronary Artery Bypass Grafting (CABG) is realised in patients with critical or advanced disease of coronary arteries. There are different pharmacotherapeutic approaches which are used as management, treatment and preventive therapy in cardiovascular disease or related comorbidities. Performing a successful surgery, pharmacotherapy, and increase of bypass patency rate remains a serious challenge.AIM:This study aims to analyse the patient characteristics undergoing CABG and evaluation of their drug utilisation rate and daily dosages in the perioperative period.MATERIAL AND METHODS:Data were collected from 102 patients in the period 2016-2017 and detailed therapeutic prescription and dosages, patient characteristics were analysed before the operation, after the operation and visit after operation in the Clinic of Cardiac surgery-University Clinical Center of Kosovo.RESULTS:Our findings had shown that patients provided to have normal biochemical parameters in the clinic before the operation, and were related to cardiovascular diseases and comorbidities and risk factors with mainly elective intervention. The, however, higher utilisation of cardiovascular drugs such as beta blockers, diuretics, anticoagulants, statins and lower calcium blockers, ACEi, ARBs, hydrochlorothiazide, amiodarone were founded. ARBs, beta blockers, statins, nitrates and nadroparin utilisation decreased after operation and visit after the operation, whereas amiodarone only in the visit after the operation. Diuretics are increased after the operation which decreases in the visit after the operation. Regarding the daily dosage, only metoprolol was increased in the visit after operation (P < 0.001) and visit after operation (P < 0.05) whereas losartan and furosemide were increased (P < 0.01) and (P < 0.05) respectively.CONCLUSION:The study showed that beta blockers, statins, aspirin, nitrates (before the operation), furosemide and spironolactone are the most utilised drugs. However, we found low utilisation rate for ACEi, ARBs, clopidogrel, nadroparin, warfarin, xanthines, amiodarone, calcium blockers. Daily dosages were different compared to before CABG only in metoprolol, losartan, and furosemide.
AIM:Here we studied the role of meconium in the respiratory system on live and exited newborns (weight 250-3000 g). Throughout this study is followed the response of tracheal rings in acetylcholine and histamine in different molar concentrations (10-1, 10-2, 10-3, 10-4 mol/dm3).METHODS:To study the smooth tracheal musculature we used 23 tracheal preparations obtained from the newborns exited from meconium aspiration.RESULTS:Based on the functional analysis of the tracheal specimen we have concluded that the meconium aspiration did not change the smooth musculature response on acetylcholine and histamine when compared to control group, exited from lung inflammatory processes (e.g., pneumonia, bronchopneumonia, atelectasis, cerebral hemorrhage), where tracheal smooth musculature response is significant (P for other causes is not significant (P > 0.01).CONCLUSION:The conclusions suggest that meconium did not potentiate the constrictor action of acetylcholine and histamine in the tracheobronchial system and did not cause modulation of bronchomotor tonus in case of his aspiration. Meconium causes mild relaxation of smooth tracheal musculature with a mechanism which is not mediated by cyclooxygenase products, from tracheal epithelium or proteins. Also, direct activity in the smooth musculature of several tested acids seems to have no significant impact in increasing the tonus of respiratory airway of smooth tracheal musculature.
Environmental exposure to lead is considered to be one of the most important hazards to the health of children. Most commonly exposed are those who are poor and live in developing countries. The environmental lead pollution problem in the Roma Mahala neighborhood of Mitrovica was discovered through the appearance of high blood lead levels (BLLs) in children living there. The aim of our study was to investigate the BLLs in children according to gender, age, and area of residence. This study describes the results from a 7-year retrospective study (January 2010–April 2017) based on BLLs conducted on children aged 0 to 13 years living in all three districts of Mitrovica. The survey included 331 children. Blood lead analysis was performed in the laboratory using capillary and venipuncture samples tested by anodic stripping voltammetry using LeadCare II machines. Mean BLLs were the highest in the Roma Mahala with 23.6 mg/dL (standard deviation ± 15.9 µg/dL). We obtained a statistical significance (p < 0.0001) between BLLs according to the settlements. The mean BLLs was higher in the 3 to 4 years aged children group in comparison with other age groups (p = 0.009). In none of the age groups with the Mann–Whitney test we obtained a significant gender difference on BLL (p > 0.05). Lead poisoning levels continue to be a serious problem among children living in Mitrovica over the past several years due to heavy lead pollution. All children from this region should receive environmental evaluations and medical examinations.
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