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Introduction: Newborn screening (NBS) is a system of organized search in the entire neonatal population for specific diseases. In Bosnia and Herzegovina, two diseases are included in NBS, congenital hypothyroidism (CH), and phenylketonuria. The screening for CH is based on determination of thyroid stimulating hormone (TSH) levels in blood obtained by heel prick method. The aim of this study is to evaluate the effectiveness of NBS program for CH based on TSH and establish the mean age of diagnosis of CH.Methods: TSH was measured by time-resolved fluoroimmunoassay (DELFIA Neonatal hTSH kit). The TSH cutoff value was 9 μU/mL. Neonates with TSH < 9 μU/mL had a negative NBS result. Neonates with TSH ≥ 9 μU/mL were recalled for a confirmation test and thyroid hormones were determined from venous blood to establish diagnosis of CH.Results: A total of 24,351 neonates were subjected to NBS in our institution. A total of 164 newborns with TSH ≥ 9 μU/ml were sent to additional testing (mean recall rate of 0.68%) at a mean age of 11.4 ± 0.5 days of life. In this group, diagnosis of CH was confirmed in 22 neonates (13.41%). The mean rate of false positive results of NBS was 0.59%. The incidence of CH in Sarajevo Canton ranged from 1/2477 in 2018 to 1/641 in 2020. The mean incidence of CH over a 5-year period was 1/1085, while the mean age at the time of diagnosis was 16.5 ± 1.2 days.Conclusion: The analysis of NBS on congenital hypothyroidism data showed the satisfactory recall and false positive rate and indicated well selected TSH cutoff value. The mean age at the time of diagnosis assures early treatment and good neurological outcome in neonates with CH.

A. Begić, E. Opanković, Vesna Cukic, Ari Lindqvist, Massimo Miniati, M. Bajc

Summary Ventilation/perfusion tomography (V/P SPECT) is a recommended method for diagnosing and follow-up of pulmonary embolism (PE). Moreover, it is possible to recognize other pathologies in addition to PE, such as pneumonia, COPD and left heart failure (LHF). The objective of this prospective study was to identify frequency of ancillary findings among patients with suspected PE. Patients, material, method: 331 consecutive patients with suspected PE were examined and classified with V/P SPECT. Patients were followed up clinically and by means of other laboratory tests. Results: 80 patients had a normal V/P SPECT and no clinical consequences in the follow-up. PE had 104 patients: 23 of them had also additional findings. Among the remaining 147 patients, pneumonias were shown in 82, acute in 75 patients and 7 had chronic post inflammatory state. COPD was present in 42 patients, in 3 combined with pneumonia. Sign of LHF was observed in 10: in 7 the acute LHF diagnosis was established, 3 were classified as having a chronic cardiopulmonary disease. Furthermore, in 16 patients, the V/P pattern was suggestive of a tumour. The clinical outcomes were 6 lung tumours, 3 empyema, one sarcoidosis, 2 were unclarified and 4 were lost in the follow-up. Conclusion: V/P SPECT identifies a high prevalence of other cardiopulmonary diseases among patients with a clinical suspicion of PE. Ancillary findings with V/P SPECT clarified patients' symptoms and had an impact on the treatment. These findings were verified by a clinical outcome by the follow-up over three months.

A. Begić, E. Opanković, V. Čukić, Medzida Rustempašić, Amila Bašić, M. Miniati, Jonas Jögi, M. Bajc

Purpose The aim of the study was to establish whether the duration of anticoagulant (AC) therapy can be tailored, on an objective basis, by using ventilation/perfusion single-photon emission computed tomography (V/P SPECT) and to assess the extent of residual perfusion defects over time. In particular, we addressed the following: (a) is the extent of perfusion recovery at 3 months of initial pulmonary embolism (PE) diagnosis a satisfactory criterion for deciding the duration of oral AC? (b) Is it safe to withdraw AC at 3 months if perfusion recovery is complete? Patients and methods Of 269 consecutive patients with suspected PE, 100 patients were diagnosed with PE using V/P SPECT. Sixty-seven patients with acute PE were followed up clinically and with V/P SPECT at 3 months. Sixty-four patients were subject to review and examination using V/P SPECT for a period of 6 months and 33 were followed up only clinically. Therapy was terminated after 3 months if perfusion was normalized, and patients were free of symptoms and the risk of hypercoagulability. Initial extension of PE did not have an impact on decision making. Results PE extension varied from 10 to 70% in the acute stage. After 3 months, complete resolution of PE was found in 48 patients. The treating pulmonologist decided to terminate therapy in 35 (73%) patients and to continue AC in 13 patients because of persistent risk factors. Six months later, at the second control stage, 53 patients had complete recovery of pulmonary perfusion. Eleven patients still had perfusion defects at 6 months. No recurrence was identified at 6 months in the 35 patients whose therapy was terminated after 3 months. No bleeding effects were observed in any of the patients during the 6-month follow-up. Conclusion This study shows that AC therapy can be tailored, on an objective basis, by using V/P SPECT. Normalization of perfusion at 3 months of initial PE diagnosis was a reliable indicator that AC could be safely withdrawn in patients who were without hypercoagulability risk.

A. Begić, E. Opanković, Sadžida Begović-Hadžimuratović, M. Konjić, Senahid Krekić

Pulmonary embolism (PE) can only be diagnosed with imaging techniques, which in practice is performed using ventilation/perfusion scintigraphy(V/P scintigraphy) or multi-detector computed tomography of the pulmonary arteries (MDCT). The basic principle for the diagnosis of PE based upon V/P scintigraphy is to recognize lung segments or subsegments without perfusion but preserved ventilation, i. e. mismatch. Ventilation/ perfusion single photon emission tomography - V/P SPECT has during the last 10 years started to replace V/P planar based on higher sensitivity, specificity and low non-diagnostic findings. A twenty seven year old woman was suspected for PE when presented to the out-patient clinic due to dyspnea, frequent yawing, oppression in the throat, 3 days after being treated of superficial varices cruris with foam sclerotherapy - UGFS. She was first examined with chest x-ray, MDCT, hearth ultrasonography and V/P planar. V/P planar was reported as very low probability for PE. All the other initial examinations were normal. Patient symptoms did not decline, and reffering clinitian put her on therapy with LMWH. Fifth days later reffering doctor recomended V/P SPECT. V/P SPECT has shown billateral PE, with the cca 35% extent of PE. Patient was followed up clinically and with V/P SPECT one month later. The control V/P SPECT was normal. This case presented importance of high clinical probability and value of V/P SPECT over another imaging technique for detection of PE.

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