Faculty of Medicine
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Item type:Publication, ALDOSTERONE SYNTHASE DEFICIENCY FROM HOMOZYGOUS CYP11B2 MUTATION PRESENTING WITH SALT WASTING CRISIS AND FAILURE TO THRIVE IN AN INFANT(Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2025-12-17); ; Spasevska, SimonidaAbstract Introduction: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP11B2 gene, leading to impaired aldosterone synthesis and life-threatening salt-wasting. We present a case of an infant with failure to thrive, dehydration, and electrolyte imbalance, diagnosed through next-generation sequencing. Material and Methods: mitted with persistent vomiting, constipation, and a10% weight loss. Laboratory evaluation showed severe hyponatremia (116 mmol/L), hyperkalemia (6.5 mmol/L), hypochloremia (87 mmol/L), and metabolic alkalosis. Differential diagnosis included gastrointestinal loss, renal salt-wasting, cystic fibrosis, celiac disease, and congenital adrenal hyperplasia. Normal 17-hydroxyprogesterone excluded classical CAH. Next-generation sequencing was performed. Results: A homozygous pathogenic variant c.554C>T (p.Thr185Ile) in CYP11B2 confirmed ASD. Treatment with fludrocortisone and sodium supplementation resulted in rapid correction of electrolytes and improved growth. Follow-up at 3.5 years showed normal growth (14.5 kg, 103 cm), stable electrolytes, and normal development, with only mild transient hyponatremia during illness. Conclusion: ASD should be considered in infants with vomiting, dehydration, and combined hyponatremia–hyperkalemia when CAH is excluded. Early diagnosis and mineralocorticoid therapy prevent complications and support normal development. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Cerebral infarction due to thrombosis mistaken as dissociative motor disorder(Македонско лекарско друштво = Macedonian Medical Association, 2024-04); ; Nedelkovska, AleksandraPatient history: female patient 33 years old, with sudden loss of consciousness previous day, inability to talk and right-sided motor weakness. Emergency unit doctors found TA-110/70 mmHg, HR= 74/min, glycemia 7,1mmol/L, oxygen saturation- 96%. During several hours of neurologic symptoms were fluctuating with improvement of the motor deficit and speech ability. Computerized tomography (CT) was described without any changes so patient was dismissed with Dg: F44.4 (dissociative motor disorder) Hemiparesis lat.dex (susp. functionalis) and ordered to do electroencephalography, laboratory test and psychiatrist consultation. The next day psychiatrist was consulted, and motor deficit as light right-sided hemiparesis was obvious with right sided drooping mouth, loss of nasolabial fold, with dysarthria (slurred speech). She presented worries about her somatic illness. Electroencephalography was performed that revealed groups and intervals of slow waves over the left frontal-temporal regions. The patient was urgently referred to a neurologist for further investigation and treatment. Initial CT exhibited only mild hypodensity in the left basal ganglia and the left perisylvian region. MRI performed the following day shows a hypointense signal in T1, hyperintense signal in T2, and FLAIR pulse sequences involving the left caudate nucleus, left lentiform nucleus, part of the left frontal, left temporal and left insular lobe. A marked diffusion restriction with low ADC map values exists in the same areas. Findings are consistent with acute ischemic stroke in the left MCA territory. Such cases need to be urgently treated by neurologists and the fluctuating symptoms need to be followed over time. Knowledge about biological markers and neuroimaging is necessary for psychiatrists and close cooperation with neurologists is needed. After performing another CT with angiography with marked hypodense lesions, the patient was admitted and treated at the neurology clinic and dismissed fully recovered. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Pulmonary Thromboembolism Related to Complicated Knee Surgery. Initial Hospital Treatment and 1 Year Follow Up (Case Report)(SASPR Edu International Pvt. Ltd, 2026-08-22); ; Hussain, NazimAbstract Introduction: Pulmonary thromboembolism (PTE) and Deep vein thrombosis (DVT) are common complication following any type of surgery. Orthopedic surgeries have a risk higher than 10% of developing PTE. Therefore, a 2 to 5 weeks is given after the surgical procedure. The aim of this study was to present a case of PTE, preceded by local DVT, preceded by orthopedic surgery despite of prophylaxis with 4000 I.U of LMWH for 21 days and the 1year outpatient follow up afterwards. Materials and methods: A full clinical analysis of a 20 years-old male athlete treated for PTE, DVT and Pleuropneumonia from 22.06.2024 to 05.07.2024 in inpatient setting and a follow up treatment in outpatient setting for 1 year. Results: The patient was admitted with d-dimer count of 3900ng/L, S1Q3T3 ECG pattern highly suspected of underlying PTE. What followed was 2 week long inpatient treatment and stabilization and 1 year-long outpatient treatment, evaluation and finally permanent discontinuation of anticoagulant therapy. Discussion: In an inpatient setting the treatment with LMWH is safer than any other type of anticoagulation for PTE when the right conditions are met and no imminent hemodynamic instability is present. DVT and PTE remain common complications of surgeries especially orthopedic ones. Conclusion: This case highlights the importance of circulatory complications related to surgeries, especially orthopedic ones and how sometimes the given prophylaxis can fail. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Granulomatosis with Polyangiitis (Wegener’s Granulomatosis), Diagnosis, Clinical Approach, Initial Treatment and 1 Year Follow Up (Case Report)(SASPR Edu International Pvt. Ltd, 2026-08-17); ; ; Introduction: Wegener's granulomatosis (WG) is a rare long-term systemic disorder that involves the formation of granulomas and inflammation of blood vessels. Aim: of this study was to present a case of (WG) that was diagnosed with kidney biopsy while the lung infiltrates were not reachable. Materials and methods: 57-year-old male patient admitted for invasive diagnostics due to lung infiltrates. Results: The patient had positive C-ANCA on bloodwork, CT scan showing multiple bilateral lung infiltrates and an inconclusive result from a nasal mucosa biopsy. The lung infiltrates being difficult to reach for biopsy and having confirmed kidney involvement with high creatinine and albuminuria enabled us to do kidney biopsy. The biopsy showed a vasculitis with positive C-ANCA confirming (WG). A high dose of Methylprednisolone (500mg for 3day, then 250 for 3 day and finally 125mg for 3 days) A cyclophosphamide and maintenance dose steroids therapy was initiated by a consulting rheumatologist after discharge. A complete remission of the lung involvement was seen on a CT 2 months after. Discussion: The least invasive site for biopsy being the nasal mucosa is always the best site for biopsy. Having received an inconclusive result leaves the kidney and the lung as secondary options. In our case the kidney was considered due to a better possible yield of viable material Conclusion: Present kidney involvement is always a site for biopsy with a high yield for confirming (WG) despite the risk of bleeding complications who were absent in our case. Keywords: Wegener's granulomatosis, lung infiltrates, kidney vasculitis. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Miliary Pulmonary Metastases from Lung Adenocarcinoma: A Case Report(SASPR Edu International Pvt. Ltd, 2026-08-05); ; ; Introduction: Miliary dissemination of adenocarcinoma is a rare, aggressive, and often terminal form of metastasis characterized by countless tiny (millimetric) nodules spreading throughout the lungs, mimicking miliary tuberculosis. It affects less than 5% of all lung adenocarcinomas. The aim of this study is to present a case of miliary disseminated adenocarcinoma originating from the lung with all diagnostic requirements. Materials and methods: A 57year old male patient with 80-pack year smoking status admitted for invasive diagnostics in our clinic between (22.10.2026-29.10.2026) due to x-ray showing miliary disseminated lung infiltrates and pleural effusion. Results: The light criteria of the pleural effusion showed exudate with high LDH values highly suspected of malignancy. Contrast enhanced CT was scheduled and it showed multiple miliary disseminated infiltrates, mediastinal and hilar lymphadenopathy. Liver and adrenal gland metastases were also noted. Bronchoscopy with TBB from the branch of the right upper lobe, together with TBNA from position 7 and 11R, both came positive for adenocarcinoma. Immunohistochemistry was positive in 50% of ROS1; TTF1; CK7; CEA; and negative on CK20; EGFR, ALK, PDL1 confirming primary adenocarcinoma of the lung. Additionally, the patient was presented on tumor bord for treatment options and staging being T4N3M1c2. Conclusion: Miliary disseminated adenocarcinoma is aggressive and usually diagnosed late. Immunohistochemistry can provide an exact origin of the malignant disease. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, CLINICAL RECOGNITION OF RETT SYNDROME(Македонско лекарско друштво = Macedonian medical association/De Gruyter, 2022); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Methods for tissue perfusion assessment after Dellon decompression of tarsal tunnels in diabetic neuropathy: key to effective management—a narrative review(Wolters Kluwer Health, 2025-01-02); ; ; Background and Objective Diabetic neuropathy significantly elevates the risk of foot ulceration and lower-limb amputation, underscoring the need for precise assessment of tissue perfusion to optimize management. This narrative review explores the intricate relationship between sympathetic nerves and tissue perfusion in diabetic neuropathy, highlighting the important role of autonomic neuropathy in blood flow dynamics and subsequent compromises in tissue perfusion. The consequences extend to the development of diabetic peripheral neuropathy and related foot complications. By analyzing both non-invasive diagnostic methods and surgical interventions, such as tarsal tunnel decompression, the paper seeks to highlight their effectiveness in improving tissue perfusion, preventing ulcers, and reducing the risk of amputations in patients with diabetic peripheral neuropathy. Methods We reviewed current literature on both non-invasive diagnostic tools and surgical techniques for assessing and improving tissue perfusion in diabetic neuropathy. Methods discussed include transcutaneous oxygen pressure (TcPO2), Doppler ultrasound, Tissue-Muscle Perfusion Scintigraphy with 99mTc-MIBI, and the SPY Laser Angiographic System. Key Content and Findings Emphasizing the critical importance of surgical interventions, such as tarsal tunnel decompression and neurolysis of the posterior tibial nerve, the article underscores their efficacy in enhancing tissue perfusion and preventing ulcers and amputations. Additionally, it addresses the significance of precise blood flow measurement and timely intervention in the management of diabetic neuropathy and foot ulcers. The non-invasive techniques for assessing tissue perfusion and blood flow in diabetic neuropathy such as TcPO2, Doppler ultrasound and Tissue-Muscle Perfusion Scintigraphy with 99mTc-MIBI are explained. Also, this review introduces the SPY Laser Angiographic System, which employs near-infrared fluorescence imaging to assess blood flow and perfusion in tissues. This advanced tool generates real-time microvascular blood flow images and proves instrumental in diagnosing and monitoring diabetic foot ulcers. Conclusions In conclusion, surgical interventions, both vascular and peripheral nerve are pivotal for optimizing patient care. Early identification of foot ulcers and peripheral arterial disease is imperative, and an understanding of blood flow dynamics, combined with effective surgical techniques, constitutes key elements in managing diabetic neuropathy, healing and preventing ulcers, and limb salvage. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, THE IMPACT OF INFLUENZA A ON BLOOD DONATION(Macedonian Association of Anatomists and Morphologists, 2026-05-22) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Dosimetric comparison of organs at risk in ultra-hypofractionated versus hypofractionated postoperative radiotherapy for early breast cancer: single center clinical study(Walter de Gruyter GmbH, 2026-02-06); Creslovnik, Albina PupakovskiBackground Growing evidence of safety and feasibility has prompted a shift toward ultra-hypofractionated (UHF) schedules in postoperative radiotherapy in early breast cancer. Patients and methods Eighty patients over 50 years of age with early breast cancer (T1-2 and N0-1) who underwent postoperative, 3D conformal, free-breathing whole breast radiotherapy were included. The prospective arm consisted of 40 patients treated with UHF (26 Gy/5 fractions/one week) from 2023-2024, whereas the control arm was retrospective and represented by data from 40 patients treated with hypofractionated radiotherapy (HF) (40.5–42.2Gy/15–16 fractions/3 weeks) between 2015 and 2020. Dosimetric parameters for organs at risk (OARs) (heart and ipsilateral lung) were derived from the dose-volume histograms. Statistical evaluation was done with paired sample t-test and Mann-Whitney U test. Results Dosimetric analysis revealed that patients treated with UHF schedule received significantly lower equivalent doses in 2 Gy fractions (EQD 2 Gy) to OARs compared with those treated with the HF schedule. The mean ipsilateral lung EQD 2 Gy dose was significantly lower in the UHF group (3.94 ± 2.1 Gy) than in the HF group (6.24 ± 2.4 Gy; p < 0.01). Among patients with left-sided breast cancer, the mean heart EQD 2 Gy dose was also significantly reduced in the UHF group (1.34 ± 0.5 Gy) compared with the HF group (3.02 ± 1.4 Gy; p < 0.01). Conclusions These findings indicate a consistent dosimetric advantage of the UHF schedule, particularly in reducing radiation exposure to the heart and ipsilateral lung. These results support the dosimetric safety and feasibility of UHF schedules in early breast cancer treatment. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Conformity Index and Homogeneity Index of the Postoperative Whole Breast Radiotherapy(Scientific Foundation Spiroski (publications), 2017-09-13); BACKGROUND: The treatment of breast cancer involves a multidisciplinary approach in which radiotherapy plays a key role. AIM: The conformity index and the homogeneity index are two analysis tools of a treatment plan using conformal radiotherapy. The purpose of this article is an analysis of these two parameters in the assessment of the treatment plans in 58 patients undergoing postoperative radiotherapy of the whole breast. MATERIALS AND METHODS: All 58 patients participating in the study had a conservatively treated early-stage breast cancer. The treatment was performed using a standard regimen of fractionation in 25 fractions up to a total dose of 50Gy. Dose-volume histograms were generated for both plans with and without segmental fields. RESULTS: Pair samples t-test was used. The technique with segmental fields allowed us more homogeneity distribution when compared to standard two tangential field techniques. The HI values were 1.08 ± 0.01 and 1.09 ± 0.01 for segment and technique with two tangential fields (p < 0.001). The DHI values were 0.92 ± 0.02 and 0.901 ± 0.01 for segment and technique with two tangential fields (p < 0.001). The CI values were 1.38 ± 0.02 and 1.43 ± 0.3 for segment and technique with two tangential fields (p = 0.0018). CONCLUSION: The results showed that the conformity and the homogeneity index are important tools in the analysis of the treatment plans during radiation therapy in patients with early-stage breast cancer. Adding segment fields in the administration of radiotherapy in patients with conservatively treated breast cancer can lead to improved dosage homogeneity and conformity.