University of Zagreb Medical School Repository

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    2851 research outputs found

    US and MRI in the evaluation of mammographic BI-RADS 4 and 5 microcalcifications

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    PURPOSE: The aim of this study was to assess diagnostic accuracies of ultrasonography (US) and magnetic resonance imaging (MRI) in lesions that manifest as mammographic BI-RADS 4 and 5 microcalcifications, in the setting of conjoined use of mammography, US, and MRI. ----- METHODS: Patients with mammographic BI-RADS 4 or 5 microcalcifications, without additional findings, were included in this prospective study. All patients subsequently underwent breast US and MRI. Histopathologic diagnosis, obtained by US-guided core-needle biopsy or surgical excision, served as a reference standard. Diagnostic accuracies of US and MRI were calculated, and positive predictive value for different MRI BI-RADS imaging features were determined. ----- RESULTS: The study group consisted of 113 women with 125 areas of suspicious microcalcifications. MRI reached sensitivity, specificity, positive predictive value 3 (PPV3), and negative predictive value (NPV) of 100%, 70.1%, 67.6%, and 100%, respectively. Statistically significant differences in MRI morphologic features and kinetic enhancement curves were observed between malignant and benign microcalcifications. Sensitivity, specificity, PPV3, and NPV for US were: 85.4%, 66.2%, 61.2%, and 87.9%. There was statistically significant difference in presentation of malignant and benign microcalcifications at US. ----- CONCLUSION: In the setting of conjoined use of mammography, US, and MRI, MRI can reliably exclude malignancy in suspicious microcalcifications. Thus, negative MRI findings may influence the decision to biopsy the microcalcifications

    The genotypic and phenotypic spectrum of MTO1 deficiency

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    BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). ----- MATERIAL AND METHODS: Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developmental delay, hypotonia, elevated lactate and complex I and IV deficiency on muscle biopsy but without cardiomyopathy, are presented in detail. ----- RESULTS: For the description of phenotypic features, the denominator varies as the literature was insufficient to allow for complete ascertainment of all data for the 35 cases. An extensive review of all known MTO1 deficiency cases revealed the most common features at presentation to be lactic acidosis (LA) (21/34; 62% cases) and hypertrophic cardiomyopathy (15/34; 44% cases). Eventually lactic acidosis and hypertrophic cardiomyopathy are described in 35/35 (100%) and 27/34 (79%) of patients with MTO1 deficiency, respectively; with global developmental delay/intellectual disability present in 28/29 (97%), feeding difficulties in 17/35 (49%), failure to thrive in 12/35 (34%), seizures in 12/35 (34%), optic atrophy in 11/21 (52%) and ataxia in 7/34 (21%). There are 19 different pathogenic MTO1 variants identified in these 35 cases: one splice-site, 3 frameshift and 15 missense variants. None have bi-allelic variants that completely inactivate MTO1; however, patients where one variant is truncating (i.e. frameshift) while the second one is a missense appear to have a more severe, even fatal, phenotype. These data suggest that complete loss of MTO1 is not viable. A ketogenic diet may have exerted a favourable effect on seizures in 2/5 patients. ----- CONCLUSION: MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. The diagnosis should be suspected on clinical features and the presence of markers of mitochondrial dysfunction in body fluids, especially low residual complex I, III and IV activity in muscle. Molecular confirmation is required and targeted genomic testing may be the most efficient approach. Although subjective clinical improvement was observed in a small number of patients on therapies such as ketogenic diet and dichloroacetate, no evidence-based effective therapy exists

    Collaboration, campaigns and champions for appropriate imaging: feedback from the Zagreb workshop

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    Leading radiologists and representatives from national radiation protection regulatory authorities and health ministries from 19 countries of the European region worked together with five experts at the workshop on justification and appropriate use of imaging in Zagreb, Croatia, from 26 to 28 October 2017 jointly organised by the IAEA and the European Society of Radiology. The workshop served as a forum to exchange information on challenges and solutions for improving justification and the appropriate use of diagnostic imaging. Common barriers to improving the use of imaging referral guidelines were discussed and the need for increased collaboration identified. Examples of good practices were presented, including use of Clinical Decision Support (CDS) systems to facilitate rapid and good justification decisions. The workshop identified some of the needs of European countries for achieving more appropriate imaging proposing wider use of collaboration, campaigns and champions. ---- MAIN MESSAGES: • Drivers for appropriate imaging in Europe are similar to those elsewhere globally. • Implementing imaging referral guidelines is the main barrier to more appropriate imaging. • Clinical Decision Support systems (CDS) facilitates good referral practice and justification decisions. • Collaboration, campaigns and champions may improve awareness, appropriateness and audit

    Smjernice za dijagnosticiranje, liječenje i praćenje bolesnika oboljelih od raka debelog crijeva [Clinical guidelines for diagnosis, treatment and monitoring patients with colorectal cancer]

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    Colorectal cancer (CRC) is one of the most common malignant tumors in Western countries. The treatment outcomes of this disease have improved significantly in recent years due to the improvement of diagnostic methods (pathohistology, radiology, nuclear medicine), screening and treatment improvements: surgical and oncological (chemotherapy, immunotherapy, radiotherapy). Additional progress has been made in the definition of prognostic and predictive factors of CRC. It is very important to emphasize the multidisciplinary approach to patients with CRC and to make a decision on optimal treatment based on evidence

    Značaj osobina ličnosti i stilova privrženosti u odabiru supstitucijske farmakoterapije ovisnika o opijatima [The importance of personality traits and attachemt styles in choosing substitution pharmacoterapy in opioid addictive patients]

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    Opioid addiction is a global major health and social concern. Choosing a substitution therapy, for achieving and further maintaining quality abstinence, is demanding and subjectivized. The research objectives were to determine differences in personality traits and attachment styles between groups of addicts in abstinence while on therapy maintenance with the BUP and MTD, and to examine the differences of these two groups based on the results of the personality questionnaire and dimensions of attachment styles. The differences would indicate the choice of substitution therapy. Each group of participants consisted of 150 addicts (n = 300) that completed the Big Five questionnaire (BFQ), Inventory of Experiences in Close Relationship: Version for Friends, and Pompidou Questionnaire. The results showed patients who scored higher in Enthusiasm, Consciousness and Industriousness personality traits and sub-dimensions are more likely to choose BUP than MTD for achieving and maintaining abstinence. There was no significant difference in attachment styles and attachment dimensions, while some significant difference was found in the components of attachment. Discriminant analysis indicated greater difference in attachment styles than in personality traits. The results could be considered as useful indicators when choosing a substitution therapy in achieving and maintaining abstinence of opiate addicitve patients

    Sustavni pregled i meta-analiza kliničkih pokusa metodama komplementarne i alternativne medicine u liječenju generaliziranoga anksioznoga poremećaja

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    Objective: To evaluate efficacy/safety of complementary and alternative medicine (CAM) methods for generalized anxiety disorder (GAD) based on randomized controlled trials (RCT) in adults. Data sources: Six electronic databases (”generalized anxiety (disorder)” AND “randomized trial”) and reference lists of identified publications were searched to March 2017. Study selection: Eligibility: full-text publications (English, German language); CAM vs. conventional treatment, placebo/sham or no treatment; GAD diagnosed according to standard criteria; a validated scale for disease severity. Of the 6693 screened records, 32 were included (18 on biologically-based therapies, exclusively herbal preparations; 8 on manipulative and body-based therapies; 3 on alternative medical systems and 3 on mind-body therapies). Data extraction: Cochrane Collaboration methodology for study quality assessment and data extraction. Results: Direct comparisons of Kava Kava extracts to placebo (4 quality trials, N=233) were highly heterogeneous. Combination of direct and arm-level comparisons reduced heterogeneity suggesting a modest Kava effect end-of-treatment Hamilton Anxiety scale score difference: -3.24 (95%CI -6.65, 0.17; P=0.059), Kava 4 arms, N=139; placebo 5 arms, N=359. Lavender extract (1 quality trial, 10 weeks, N=523) and combination of extracts of C. oxycantha, E. californica and magnesium (1 quality trial, 12 weeks, N=264) were superior to placebo and balneotherapy was superior to paroxetine (one quality trial, 8 weeks, N=237) indicating efficacy. All other trials were small or biased or lacked assay sensitivity. Safety reporting was poor. Conclusions: Evidence about efficacy/safety of CAM methods in GAD is limited: small (imprecision), commonly biased trials (performance, detection, attrition) result in high uncertainty about the estimates. Evidence summarized in this systematic review indicate efficacy and safety of two herbal preparations and one specific balneotherapy protocol, therefore we consider them suitable for assessment in quality trials as a part of integrative treatment strategies for GAD

    Multiple primary malignancies in renal transplant recipients: a single centre retrospective cohort study

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    BACKGROUND/AIMES: Renal transplant recipients are exposed to immunosuppressive treatment which may increase the risk for developing malignancies. Limited data exists concerning the occurrence of multiple primary malignancies (MPM) in renal transplant patients. ----- METHODS: All the patients who received a renal allograft at our institution from 1973 to 2017 were included in this investigation. Data from patients with more MPM were obtained from the charts and medical records. Malignancies were categorized as synchronous if the interval between occurrences was less than or equal to 6 months and metachronous if the interval was more than 6 months. ----- RESULTS: Out of the 1884 patients who received a renal allograft, 164 (8.7%) developed a malignant tumor. Twenty-two patients (13.4%; 6 females, 16 males) developed MPM, 7 synchronous (31.8%) and 15 metachronous types (68.2%). The most common initial primary tumors were skin cancers (8) and kidney cancers (3). Furthermore, skin cancers were the most common second primary malignancies (9). Log-rank analysis revealed significantly better survival in the synchronous group (113.3 months) than in the metachronous group (24.6 months) (p=0.04). ----- CONCLUSION: MPM are more frequent in renal transplant recipients than in the general population. It is associated with a high mortality rate, especially in the metachronous group. An increased awareness and frequent screening tests are necessary when managing this condition

    The frequencies of micronuclei, nucleoplasmic bridges and nuclear buds as biomarkers of genomic instability in patients with urothelial cell carcinoma

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    Bladder urothelial cell carcinoma (UCC) is an increasingly prevalent cancer worldwide, and thus, gaining a better understanding of its identifiable risk factors is a global priority. This study addressed this public health need with the understanding that cancer-initiating events, such as chromosome breakage, loss and rearrangement, can be reasonably used as biomarkers to evaluate an individual's cancer risk. Overall, forty bladder cancer patients and twenty controls were evaluated for genomic instability. To the best of the investigators' knowledge, this is the first study to perform micronucleus (MN) assays simultaneously in urothelial exfoliated cells (UEC), buccal exfoliated cells (BEC), and peripheral blood lymphocytes (PBL) in first-diagnosed, non-smoker bladder UCC patients. Additionally, the frequency of nucleoplasmic bridges (NPBs) and nuclear buds (NBUDs) in PBL was evaluated. The MN frequencies in UEC, BEC, and PBL, as well as the frequencies of NPBs and NBUDs, were significantly higher in patients than in controls. In conclusion, MN assays, particularly in UEC, may be used to identify individuals who are at high risk of developing UCC, as single or as additional triage test to UroVysion FISH test. Our results further validate the efficacy of biomarkers, such as MN, NPBs, and NBUDs, as predictors of genomic instability

    Performance of the COMPASS-31 questionnaire with regard to autonomic nervous system testing results and medication use: a prospective study in a real-life setting

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    The aim of this study was to investigate the performance of the Composite Autonomic System Score-31 (COMPASS-31) questionnaire in a real-life setting in consecutive patients referred to the laboratory for objective testing of the autonomic nervous system (ANS), with the hypothesis that COMPASS-31 results differ depending on medications and findings of the tilt table test results. One hundred seventy-one consecutive patients (125 females, mean age 41.5 ± 19.3) referred for testing of the ANS were enrolled. Before testing, all patients completed the recently validated Croatian version of COMPASS-31. The following data were systematically collected for all patients: age, sex, diagnoses, and medications. Results of COMPASS-31 were significantly higher in patients taking medications with a known influence on the ANS (p < 0.001). Patients with postural orthostatic tachycardia had significantly higher orthostatic intolerance and vasomotor domains of COMPASS-31 (p = 0.048 and p = 0.022, respectively). Patients with a cardiovagal score ≥ 1 had a significantly higher vasomotor domain of COMPASS-31 compared to patients with normal results of ANS tests (p = 0.030). These findings suggest the COMPASS-31 might be a valuable screening tool for autonomic dysfunctions, as it is associated with impaired ANS tests, but usage of medications that modify the ANS should always be taken into account

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