Abstract The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.

Background: A precise three-point shot (3S) is considered a key parameter of success in a basketball game, and therefore the factors that affect its success have always attracted the attention of researchers. Aim: The aim of this research was a biomechanical-mathematical analysis of 3S in basketball, in order to determine the key parameters for performing a 3S. Results: The research shows a model of shooting a basketball player from the central position of the shot with 6.75 m. The modeling led to the conclusion that the height of the throw, the speed and the angle of the throw of the ball have a positive and direct relationship with the angle at which the ball falls into the basket when it comes to a shot for three points. Conclusion: The height of the throw, the speed and the angle of the ball have a positive and direct relationship with the angle at which the ball hits the basket when it comes to a shot for three points. Anthropometric characteristics of the player, such as the length of the arm, and the height of the player, directly lead to a positive relationship with the throwing angle.

Introduction: The invasion of blood and lymph vessels with tumor tissue represents a negative prognostic factor of the disease course in patients with non-small cell lung cancer. Aim: The aim of the study was to determine the marker value of a preoperatively determined size of pulmonary squamous cell carcinoma and adenocarcinoma and its impact on lymphovascular invasion (LVI) in resected lung tissue. Materials and Methods: The conducted observational cross-sectional study included 322 patients with a complete resection of confirmed squamous cell lung carcinoma and lung adenocarcinoma. Preoperative size and type of tumor were determined by a preoperative chest computed tomography scan and cytological/histological analysis of obtained samples, while LVI status was determined by pathohistological analysis of resected tumor lung tissue. Receiver operating characteristic (ROC) curve analysis was performed to assess whether tumor size could serve as a reliable marker for LVI. P < 0.05 was considered statically significant. Results: A statistically significant difference in the frequency of tumor size (P = 0.580) along with LVI (P = 0.656) was not established between the patients with squamous cell lung cancer and lung adenocarcinoma. A ratio between the size of lung adenocarcinoma and LVI status (P < 0.001) was determined as statistically significant, while such a difference was not established in squamous cell lung cancer (P = 0.052). The ROC analysis revealed that tumor size >39 mm in patients with lung adenocarcinoma has obtained a sensitivity of 70.8% and a specificity of 60.9% to differentiate patients with a LVI (areas under the curve [AUC] = 0.70; 95% CI 0.60‒0.79; P < 0.001). A tumor size >4.6 cm in patients with squamous cell lung cancer obtained a sensitivity of 56.5% and a specificity of 60.3% to differentiate patients with a LVI (AUC = 0.59; 95% CI 0.50‒0.67; P = 0.043). Conclusion: The preoperative size of lung adenocarcinoma could be an acceptable marker of LVI presence in resected lung tissue, while in the squamous cell lung cancer, a potential biomarker role of the preoperative size of the tumor was inadequate.

Aim To investigate interleukin 6 (IL-6) values depending on duration of diabetes mellitus (DM) and evaluate possible correlation with diabetic polyneuropathy. Methods The research study included 90 patients with DM divided into three groups (30 patients each) according to the duration of DM: group A - patients who had DM for less than 10 years, group B - duration of DM was 10 to 20 years, and group C - patients with DM over 20 years. Control group (K) included 30 healthy participants. Results IL-6 was significantly higher in the healthy control group, 180.318 pg/mL±94.18, than in group A, 47.23pg/ml±34.8, group B, 43.31pg/ml±33.17, and group C, 70.39 pg/ml±59.26 (p=0.0001). All groups had significantly different values of IL-6 between each other (p=0.0001). Level of IL-6 was in correlation with diabetic polyneuropathy in the group A (the youngest participants) (p=0.0001). In other groups there was no significant correlation between IL-6 and diabetic polyneuropathy. Conclusion The level of IL-6 was in correlation with neuropathy among younger patients. A higher level of IL-6 in the control group than in diabetic groups is a sign of stronger inflammatory response among younger and healthy people than in patients with DM.

Aim To determine the effect of the load on the meniscus in relation to a different angle, and to present the impact of force on eventual injury of menisci. Methods Research included 200 males with average height of 178.5 cm, mass 83.5 kg, and average age of 22 years. The simulation of treadmill that was used in the evaluation of ischemic heart disease was made. Effects on the knee were evaluated by measuring at different inclinations (5°70', 6°80', 7°90', 9°10', 10°20', 11°30' and 12°40'). Results With increasing ascent of treadmill the load on the meniscus also increased. Each increase in ascent after 22% (which corresponded to the angle of 12°40' and seventh degree of load according to the Bruce protocol) at given anthropological values was an etiological factor for meniscus injury. Conclusion The seventh degree of load according to the Bruce protocol can lead to the meniscus injury.

ACCEpTED: December 18, 2020 Aim: To present a therapeutic modality of rhabdomyolysis after acute myocardial infarction (AMI). Case report: A 45-year-old patient was admitted to Urgent Care Center due to chest pain. Due to repeated attacks of ventricular fibrillation (11 direct-current cardioversion defibrillation was done), and after successful cardiopulmonary resuscitation (CPR) he was intubated. Computed tomography (CT) of the head was without pathological findings. At admission laboratory findings were as follows: urea 17.5 mmol/L, creatinine 143 μmol/L, AST 584 IU/L, ALT 162 IU/L, creatine kinase 6220 IU/L, C-reactive protein 249.5 mg/L, troponin I 0.12 ug/L (in two days increased to 6.31 ug/L). In the resuscitation procedure, gastric contents were aspirated, and shadowing of the right lung was radiographically verified. Patient from admission was febrile up to 40° Celsius despite received therapy (positive finding on Haemophilus influenzae B was received subsequently). Ejection fraction of left ventricle was reduced (estimated about 30-35%) along with anteroseptal medioapical akinesia, while stroke volume was 46 mL. Hypokinesia of right ventricular free wall was verified. Tricuspid annular plane systolic excursion was 15mm, along with moderate tricuspid regurgitation. On the fourth day deep vein thrombosis of the left leg was verified. On the ninth day of hospitalization, a high increase in creatine kinase was verified (up to 127.100 IU/L) with consecutive renal failure (urea 38.1 mmol/L, creatinine 620 μmol/L) and rhabdomyolysis with acute renal failure was diagnosed. The patient was included in the acute hemodialysis program (six hemodialysis were performed, diuresis was up to a maximum of 250 mL/day). The patient’s condition gradually stabilized, and the patient was taken of mechanical ventilation after 16 days. During next twenty days, kidney function was improving, and the patient was discharged home. Follow-up examination after two months verified anteroseptal and medioapical akinesia of left ventricle, with satisfactory renal function. Percutaneous coronary intervention was indicated.

ACCEPTED: December 18, 2020 Aim: To present a therapeutic modality of peripartum cardiomyopathy (PPCM). Case report: A 24-year-old female patient, with no prior known diagnosis, was admitted to the Department of Cardiology with signs of acute heart failure. A 45 days prior to admission she delivered a healthy baby (first pregnancy) via cesarean section, while 20 days before hospitalization she developed symptoms like dyspnea, orthopnea, fatigue, weakness and extremely low tolerance to effort. Upon admission on X-ray, heart shadow was enlarged and, while on electrocardiogram (ECG) there was a sinus tachycardia with negative T waves from V1-V5. Echocardiography on admission showed initial dilatation of cardiac chambers, reduced ejection fraction of left ventricle (EFLV; estimated about 25%) with global hypokinesia, signs of moderate to severe mitral and tricuspid regurgitation with mild pulmonary hypertension, along with hemodynamically nonsignificant circumferential pericardial effusion (diastolic separation of 8mm). Laboratory findings were as follows: NT-pro BNP 1810.0 pg/mL; signs of anemia, while inflammatory parameters, cardiac necrosis markers, urea, creatinine, D-dimer and thyroid hormones values remained in reference values. Testing for known cardiotropic viruses was not positive and PPCM was diagnosed. The patient was treated with cardio selective beta blocker (metoprolol), angiotensin-converting enzyme (ACE) inhibitor (ramipril), diuretics (furosemide), spironolactone, and digoxin along with supportive therapy. After twelve days of hospital treatment, there was significant improvement of the clinical status of our patient. Her symptoms were notably ameliorated. EFLV before discharge improved to 40%, heart chambers dimensions were in referral values, while mitral and tricuspid regurgitation were significantly reduced into a mild grade, while pericardial effusion was also in regression. Follow-up examination after two and six months showed further improvement of patients’ conditions while after six months only beta-blocker and acetylsalicylic acid were prescribed in therapy.

ACCEpTED: December 18, 2020 Introduction: Exercise stress test (ergometry) in pediatric cardiology practice is used to examine the condition and functional ability of the heart in children. It is performed using a bicycle ergometer or treadmill, estimating and measuring the amount of physical activity, heart rate, blood pressure values and electrocardiogram.1,2 The aim of article was to present the role and importance of exercise stress test in everyday clinical pediatric cardiac practice.

Abstract Objectives The aim of this article was to present a case of premature fetal closure of the ductus arteriosus (DA) of unknown cause. Case presentation A 32-year-old pregnant woman came for the regular prenatal visit at 36 + 1 weeks of gestation (WG) at which oligohydramnios and premature closure of DA were revealed. Use of non-steroidal anti-inflammatory drugs was excluded by the history, although the patient had the symptoms of common cold 2 weeks before the check-up taking more than 1,000 mL of strong chamomile tea daily till the day before the prenatal visit. The patient was hospitalized at 36 + 1 weeks of gestation due to premature closure of DA and oligohydramnios (amniotic fluid index = 4.5/3), which was the indication to deliver the baby by cesarean section at 36 + 6 WG (birth weight was 2,830 g, birth length 49 cm and head circumference 34 cm, Apgar score at 1 and 5 min were 9/9). Postnatal course was uneventful, and postnatal echocardiography at 12 h of life revealed functionally closed DA and mild dysfunction of the right ventricle, which completely resolved after 7 days. The mother and the baby were discharged home healthy, and were doing well 3 months after delivery. Conclusions Although the cause of premature closure of DA in most of the cases will remain undetected, thorough history sometimes with unexpected events should be taken under the consideration as possible causative factor for premature DA closure, as was drinking of high quantities of chamomile tea in our case.

Results: After 247 ± 53 seconds (4 minutes and 11 seconds) in average patients developed NSVT, and were referred for coronary angiography. Of total number, 4 had a significant finding on coronary angiography; 3 patients had single-vessel coronary disease (one received a stent on right coronary artery (RCA), two on left anterior descending artery (LAD)), and one had triple-vessel coronary disease (received a stent on circumflex artery (CX) and LAD).