Faculty of Medicine
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Item type:Publication, GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism(BMJ, 2026-05); Ademi, BlerimGNB1-related neurodevelopmental disorder is a rare developmental encephalopathy caused by pathogenic variants in GNB1 The disorder presents with early-onset developmental delay, hypotonia, movement disorders, seizures and/or epilepsy and varied electroencephalographic (EEG) findings, which may occur even in the absence of seizures.We report a male toddler with early-onset global developmental delay, hypotonia, dysmorphic features, bilateral sensorineural hearing loss, nystagmus, transient neonatal focal seizures and emerging EEG findings. Genetic testing identified a pathogenic GNB1 missense variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.This case illustrates the clinical variability of GNB1 encephalopathy, expands the spectrum of reported inheritance patterns and highlights the importance of early genetic testing of infants with developmental delay and pathological EEG patterns. Recognition of the electroclinical patterns is essential for early diagnosis, genetic counselling and multidisciplinary management. The future expansion of longitudinal clinical and EEG data will be essential for prognosis and possible future therapeutic approaches. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Neurodevelopmental disorder associated with NARS1 gene mutation in a child with cerebral palsy(Medip Academy, 2024-04-30); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Xenobiotics Induced Liver Toxicity(Macedonian Academy of Sciences and Arts/Walter de Gruyter GmbH, 2026-06-01); ; ; ; Technological advancement and industrialization have significantly increased human exposure to xenobiotics, a diverse group of foreign chemical substances with potential toxic effects. Xenobiotics include pharmaceuticals, pesticides, personal care products, industrial chemicals, and environmental pollutants. The liver, as the primary organ responsible for biotransformation, plays a central role in the detoxification and activation of these compounds. However, metabolic processes may generate reactive intermediates that contribute to hepatocellular injury. This review provides a comprehensive overview of xenobiotic classification, mechanisms of hepatic biotransformation, and the molecular pathways underlying xenobiotic-induced hepatotoxicity. Special emphasis is placed on oxidative stress, reactive metabolite formation, and immune-mediated mechanisms. Clinical manifestations, diagnostic approaches, and current management strategies are also discussed. Understanding these processes is essential for early detection, prevention, and improved therapeutic outcomes in patients with xenobiotic-induced liver injury. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Dellon Decompression Using WALANT: A Safe and Effective Approach for Patients with Peripheral Artery Disease(Multidisciplinary Digital Publishing Institute (Switzerland), 2025-02-12); ; ; Jovanovska, KaterinaBackground: Wide-Awake Local Anesthesia No Tourniquet (WALANT) is revolutionizing surgery by providing a bloodless field without tourniquet use, reducing risks, costs, and enhancing patient comfort. While extensively used in hand surgery, its application in foot and ankle procedures, particularly for high-risk patients with diabetic neuropathy and peripheral artery disease (PAD), remains underexplored. This study evaluates the safety, efficacy, and outcomes of WALANT for tarsal tunnel decompression in such patients. Methods: Between March 2022 and April 2024, 32 patients with diabetic neuropathy and PAD underwent Dellon decompression of the tarsal tunnel. Five received spinal anesthesia with a tourniquet, while 27 underwent WALANT. Outcomes assessed included operative time, Visual Analogue Scale (VAS) pain scores, posterior tibial artery blood flow (via Doppler ultrasonography), and complications. Data were collected preoperatively, immediately postoperatively, and at six and nine months. Results: WALANT reduced operative time (40 ± 8 min vs. 65 ± 10 min) and required fewer personnel (four vs. six). VAS scores improved significantly in the WALANT group (from 8.65 ± 0.84 preoperatively to 1.21 ± 0.24 at nine months). Posterior tibial artery blood flow also showed superior improvements with WALANT (5.30 ± 0.65 cm3/s vs. 2.50 ± 0.45 cm3/s). Minor wound healing delays were noted in two WALANT cases; no major complications occurred. Conclusion: WALANT offers a safe, efficient alternative to spinal anesthesia for tarsal tunnel decompression in high-risk patients, minimizing ischemic risks, enhancing vascular outcomes, and reducing postoperative pain. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, GALACTOMANNAN ANTIGEN TEST IN RESPIRATORY SAMPLES FOR ASPERGILLOSIS DIAGNOSIS(Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2025-12-14)Introduction: Invasive aspergillosis is an important cause of mortality in patients with malignant diseases, and is an underestimated infection in critically ill patients. Early diagnosis is still challenging, therefore a rapid and more sensitive diagnostic methods could be beneficial. Aim: the aim of the study was to evaluate the sensitivity and specificity of the galactomannan antigen test in respiratory samples, compared to conventional methods, for early diagnosis of aspergillosis. Material and methods: Samples of 125 patients divided into 4 groups, classified according to diagnosis and EORTC/MSG criteria, were analysed at the Institute of Microbiology and Parasitology, with culture and galactomannan test in respiratory samples, during a period of two years. Results: A total of 71 isolates of Aspergillus were confirmed in this study. Culture of respiratory samples revealed Aspergillus in the group of chronic aspergillosis (63.33%), followed by groups of cystic fibrosis (56.67%), primary immune deficiency (51.43%), and the group with prolonged ICU stay (43.33%). Sensitivity and specificity of respiratory samples’ culture were: 64.29% and 100%, 59.09% and 100%, 54.55% and 12.5%, 100% and 54.17%, in all four groups, respectively. Sensitivity and specificity of galactomannan in respiratory samples, were: 75% and 57.14%, 86.36% and 62.5%, 81.82% and 0%, 50% and 70.83%, in all 4 groups, respectively. Conclusion: The results of this study demonstrate that positive galactomannan test in respiratory samples could be a useful diagnostic adjunct in diagnosis of aspergillosis, along with results from conventional mycological analyses, so timely antifungal treatment is administered. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, TREATMENT OF VENTRAL HERNIA WITH COMPOSITE MESH: A CASE REPORT(Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, 2026-05-18); ; ; After each abdominal surgical intervention, there is a risk of developing a hernia in the anterior abdominal wall. Тhis type of hernia are also known as incisional hernia. Such hernias can happen regardless of the type of abdominal incision, but they are more common with midline and transverse incisions. The use of synthetic mesh has become a common practice nowadays as it has lower risks of complications during surgery and lower rates of hernia recurrence compared to non-mesh repairs. In this case, a 31-year-old female patient with a large ventral hernia was scheduled for planned surgical intervention with the placement of a composite mesh for correction of the defect. The use of the composite mesh proved to be an excellent surgical solution for hernia correction in this particular case. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, APPLICATION OF CERTAIN CARDIOLOGICAL AND KINESIOLOGICAL PROTOCOLS DURING THE PROCESS OF REHABILITATION OF THE PATIENTS WITH ACUTE MYOCARDIAL INFARCTION(University of Tetova, 2024) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Thyrotoxicosis-Induced Reversible Dilated Cardiomyopathy: A Case Report(AVES YAYINCILIK A.Ş., 2026-01-07); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, THE ROLE OF SHOCKWAVE INTRAVASCULAR LITHOTRIPSY IN THE TREATMENT OF HEAVILY CALCIFIED CORONARY ARTERY LESIONS: OUR FIRST EXPERIENCE(Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2025-12-17); ; Introduction: Coronary artery disease (CAD) is typically a chronic, progressive, inflammatory disease of the coronary arteries caused by coronary atherosclerosis. Moderate-to-severe calcification is present in up to 30% of patients undergoing coronary angiography (CA). Calcified coronary artery lesions are one of the most complex and challenging lesion subsets in interventional cardiology. Shockwave intravascular lithotripsy (IVL) is a recently introduced calcium-modifying technique for the treatment of concentric, eccentric and nodular calcifications. Case presentation: We present a clinical case of a 73-year-old male complaining of intermittent chest pain. He was a non-smoker with a positive familiar history for CVD. He had previous myocardial infarction and stenting of the right coronary artery (RCA), previous CVI, paroxysmal atrial fibrillation, insulin-dependent type 2 diabetes, heart failure with mildly reduced ejection fraction (HFmrEF) and chronic kidney disease (CKD) stage II/IIIa. CA revealed heavily calcified CAD. A calcified lesion of the left anterior descending artery (LAD) was treated using a 3.0/12 mm Shockwave IVL balloon; and calcium cracks and fractures were confirmed by optical coherence tomography (OCT). We proceeded with an NC balloon and finally treated the lesion with a 3.5/15 mm drug-coated balloon (DCB). The calcified lesion of the RCA was treated with conventional techniques using guiding catheter extension, NC balloons and drug-eluting stent (DES). Conclusion: Heavily calcified coronary artery lesions remain one of the biggest challenges for interventional cardiologists. Shockwave IVL is designed for treatment of all types of heavily calcified lesions using acoustic waves (shock waves). IVL is safe and effective technique that will definitely strengthen the armamentarium for modern treatment of heavily calcified lesions. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, EMERGING BIOMARKERS AT THE CROSSROADS OF CARDIAC, RENAL, AND HEPATIC DYSFUNCTION: A NEW ERA IN MULTIORGAN RISK STRATIFICATION(Faculty of Medicine, Ss Cyril and Methodius University in Skopje, 2026-03-24); ;