Emine Göktaş, Ahmet Burak Arslan, Betül Turan, Betül Okur Altındaş, Ayşe Gül Zamani, Mahmut Selman Yıldırım
{"title":"The diagnostic yield of molecular karyotyping: a retrospective single-center study.","authors":"Emine Göktaş, Ahmet Burak Arslan, Betül Turan, Betül Okur Altındaş, Ayşe Gül Zamani, Mahmut Selman Yıldırım","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Aim: </strong>To determine the diagnostic yield of chromosomal microarray analysis (CMA) in different patient groups: intellectual disability and developmental delay (ID/DD), multiple congenital anomalies (MCA), epilepsy, autism spectrum disorder (ASD), reproductive abnormalities, and dysmorphic features.</p><p><strong>Methods: </strong>We retrospectively reviewed microarray data of 176 patients admitted to the Medical Genetics Outpatient Clinic of Necmettin Erbakan University Medical Faculty Hospital from 2016 to 2022. After the copy number variation (CNV) interpretation, we evaluated the diagnostic strength of CMA in each group.</p><p><strong>Results: </strong>Phenotype-associated CNVs were detected in 20.3% (22/108) of patients with ID/DD, 23.9% (17/71) of patients with MCA, 15.9% of patients (7/44) with epilepsy, 16.6% (4/24) of patients with ASD, and 11.7% (2/17) of those with reproductive abnormalities. Chromosomal gains or losses were found in 43% (35/80) of patients with dysmorphic findings.</p><p><strong>Conclusion: </strong>This study confirmed the remarkable diagnostic yield of CMA in ID/DD, MCA, and ASD patients, and expanded its value for cases with epilepsy and dysmorphism.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"92-99"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143961856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Patients prefer human psychiatrists over chatbots: a letter to the editor.","authors":"Hinpetch Daungsupawong, Viroj Wiwanitkkit","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"179"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Klara Dubravčić, Ružica Lasan Trčić, Ernest Bilić, Josip Konja, Ljubica Rajić, Ranka Femenić, Maja Pavlović, Koraljka Gjadrov Kuveždić, Sunčica Ries, Mirna Sučić, Ivana Franić Šimić, Renata Zadro, Margareta Radić Antolic, Ivana Horvat, Gordana Jakovljević, Jelena Roganović, Srđana Čulić, Dubravka Kuljiš, Višnja Armanda, Karolina Malić Tudor, Senada Šerifi, Bernarda Lozić, Drago Batinić
{"title":"Disease characteristics and outcomes of Croatian pediatric patients with acute lymphoblastic leukemia: pretreatment immunophenotypic predictors of high bone marrow minimal residual disease on day 15 of treatment.","authors":"Klara Dubravčić, Ružica Lasan Trčić, Ernest Bilić, Josip Konja, Ljubica Rajić, Ranka Femenić, Maja Pavlović, Koraljka Gjadrov Kuveždić, Sunčica Ries, Mirna Sučić, Ivana Franić Šimić, Renata Zadro, Margareta Radić Antolic, Ivana Horvat, Gordana Jakovljević, Jelena Roganović, Srđana Čulić, Dubravka Kuljiš, Višnja Armanda, Karolina Malić Tudor, Senada Šerifi, Bernarda Lozić, Drago Batinić","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Aim: </strong>To assess the clinical-biological characteristics and outcomes of Croatian pediatric patients with acute lymphoblastic leukemia (ALL). A secondary aim was to evaluate the predictive value of pretreatment leukemia-associated immunophenotypes (LAIPs) for poor early response to induction therapy defined as ≥10% day 15 bone marrow flow cytometry minimal residual disease (FCM-MRD).</p><p><strong>Methods: </strong>This retrospective cohort study reviewed the medical data of 393 consecutive pediatric ALL patients diagnosed and treated from February 2003 to April 2017 at four Croatian pediatric hemato-oncology centers. FCM data of 379 non-infant patients enrolled in two consecutive intercontinental trials, ALL IC-BFM 2002 (NCT00764907) and ALL IC-BFM 2009 (EudraCT 2010-019722-13), were analyzed to evaluate the association between LAIPs at diagnosis and day 15 FCM-MRD≥10% using univariate and multivariate logistic regression.</p><p><strong>Results: </strong>The median age at diagnosis was 5.2 years, with a predominance (83%) of B-cell precursor (BCP) ALL, and high hyperdiploidy (25.1%) and ETV6::RUNX1 (18.7%) as the most common genetic abnormalities. The protocols did not significantly differ in 5-year event-free survival (82.1% vs 81.7%), overall survival (88% vs 85%), and cumulative incidence of relapse (12.3% vs 10%). FCM-MRD≥10% on day 15 was identified in 22.1% of patients and was predicted by white blood cell (WBC) count ≥20×109/L (P=0.011) and strong expression of CD34 (P=0.032) and CD13 (P=0.001) at diagnosis.</p><p><strong>Conclusion: </strong>The characteristics and survival rates of Croatian pediatric ALL patients aligned with ALL IC-BFM data. WBC≥20×109/L, CD34strong, and CD13strong independently predicted poor early response in BCP-ALL, suggesting a potential prognostic value of LAIPs at diagnosis.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"100-114"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aleksandar Džakula, Karmen Lončarek, Tomislav Benjak, Darijo Jurišić, Dorja Vočanec
{"title":"Applying the complex patient model to the care of persons with disabilities.","authors":"Aleksandar Džakula, Karmen Lončarek, Tomislav Benjak, Darijo Jurišić, Dorja Vočanec","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"180-181"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana Marušić, Igor Jerković, Petra Jelić, Dragan Ljutić
{"title":"Bibliometric and clinical trial registry analysis of the University of Split medical research from 1997 to 2022.","authors":"Ana Marušić, Igor Jerković, Petra Jelić, Dragan Ljutić","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Aim: </strong>To analyze the most influential publications from researchers in medicine at the University of Split in Croatia, as well as their participation in publicly registered clinical trials, to gain insight into medical research excellence in the second largest university in Croatia.</p><p><strong>Methods: </strong>For articles published in the top 5% of journals in 47 medical categories in the Web of Science Core Collection (WoSCC) from 1997, when the School of Medicine became an independent University constituent, to 2022, we analyzed the number of articles in different discipline categories, citations to these articles, and geographical and institutional collaborations. From the public registry ClinicalTrials.gov, we collected the information on the number of clinical trials at the University of Split School of Medicine and/or the University Hospital of Split.</p><p><strong>Results: </strong>Authors with a UNIST affiliation published 106 articles in the top 5% journals in 29 out of 59 WoSCC journal categories. The annual publication output significantly increased over the years. Over 80% of the articles were the result of collaboration with the global research community, involving 82 different countries. The total number of citations across these articles was 21 171, with a median of 187.4 citations per article. The first registered clinical trial in the ClinicalTrials.gov registry with a location in Split School of Medicine or the University Hospital of Split was in 1993, with a statistically significant increasing trend over the years. These trials represented 20.6% of all registered trials from Croatia.</p><p><strong>Conclusion: </strong>The University of Split has been continually increasing its impact in medical research. Bibliometric analysis should be regularly performed to follow the development of medical research at the University, identify new strategic areas for research excellence, support researchers, and attract new researchers and research teams.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"153-163"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ares Alizade, Gulsah Evyapan, Ibrahim Seyfettin Celik, Berna Ozdem
{"title":"Metformin induces mitochondria-mediated and endoplasmic reticulum stress-mediated apoptosis and inhibits angiogenesis-related gene expression in breast cancer cells via targeting VEGF-A/VEGFR2/NRP1.","authors":"Ares Alizade, Gulsah Evyapan, Ibrahim Seyfettin Celik, Berna Ozdem","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Aim: </strong>To investigate the apoptotic and anti-angiogenic effects of metformin in human MCF7 breast cancer cells.</p><p><strong>Methods: </strong>The effect of metformin on cell viability was assessed by MTS and crystal violet assays, and its effect on cell migration was evaluated by the wound healing assay. The gene expression and protein levels of angiogenesis- and apoptosis-related genes were determined by real-time polymerase chain reaction, Western blot, and flow cytometry.</p><p><strong>Results: </strong>Metformin reduced the viability and migration of breast cancer cells compared with the control group. Furthermore, metformin (10 μM) increased the apoptosis-related gene and protein expression of caspase-3, Bax, AIF, CHOP and GRP78 48 hours after treatment compared with the control group. In contrast, it significantly decreased Bcl-2 and Wee1 gene and protein expression and suppressed angiogenesis-related genes VEGFA, VEGFR2, and NRP1.</p><p><strong>Conclusions: </strong>Our results suggest that metformin treatment activates apoptosis pathways and inactivates the angiogenesis pathway. Although this study was conducted in vitro and did not directly evaluate blood vessel formation, the observed downregulation of angiogenesis-related genes suggests potential anti-angiogenic activity of metformin at the gene expression level.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"115-124"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The painless ST-elevation myocardial infarction equivalent: a case report.","authors":"Martin Medvid, Salome Glauser, Fabian Zürcher","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This report presents the case of a 61-year-old patient who experienced sporadically occurring episodes of chest pain lasting approximately 15 minutes. The initial electrocardiogram (ECG) showed unspecific repolarization disturbances but no ST-elevation indicative of ST-elevation myocardial infarction (STEMI). However, upon closer examination, biphasic T waves were detected, suggestive of specific repolarization abnormalities. The conventional Wellens criteria were met, possibly indicating an etiopathogenetic correlation with the patient's complaints. Subsequent coronary angiography revealed a functional occlusion of the middle segment of the left anterior descending artery, which was treated by percutaneous transluminal coronary angioplasty/drug eluting stent. It also revealed a severely stenosed distal circumflex artery, indicating a two-vessel coronary disease. If we had used only conventional STEMI criteria, this patient would have certainly been missed. Therefore, when evaluating patients presenting with chest pain, it is imperative to consider non-occlusion infarction ECG abnormalities, known as STEMI equivalents. This case, moreover, highlights the importance of the non-officially proposed occlusion myocardial infarction (OMI)/non-OMI paradigm instead of the old STEMI/non-STEMI dichotomy.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"173-178"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Iva Rukavina, Marijan Frković, Mario Sestan, Ivana Brnadic, Alenka Gagro, Suzana Ožanić Bulić, Marija Jelusic
{"title":"Pachydermodactily - the great imitator of arthritis: a case series.","authors":"Iva Rukavina, Marijan Frković, Mario Sestan, Ivana Brnadic, Alenka Gagro, Suzana Ožanić Bulić, Marija Jelusic","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Pachydermodactily is a rare digital fibromatosis of unknown origin, mainly affecting adolescent boys. It presents as symmetrical, painless thickening of the soft tissues, usually around the proximal interphalangeal joints (PIP). Patients often experience delayed diagnoses, receive unnecessary treatments, or are misdiagnosed with chronic inflammatory arthritis. Although the exact cause remains unclear, pachydermodactyly may be associated with repetitive mechanical trauma, such as rubbing or interlacing the fingers, which can lead to secondary skin thickening. Treatment is often not required given its benign prognosis, although some patients ask for therapy due to the cosmetic impact of the condition. The aim of this study was to present the characteristics of seven patients diagnosed with pachydermodactily at pediatric rheumatology outpatient clinics in Zagreb. Additionally, we performed a comprehensive literature review of reported cases published from 1975 to 2024 using PubMed and Google Scholar. The primary symptom observed was swelling of the soft tissues around the PIP and metacarpophalangeal joints, with some patients presenting with hyperkeratotic plaques resembling knuckle pads. One patient experienced hand pain. Clinical examination and diagnostic workup were performed (laboratory tests specific for rheumatologic diseases, radiological tests such as joint ultrasound, x-ray or magnetic resonance imaging, or skin biopsy) to exclude other conditions with similar clinical features and etiologies, such as juvenile idiopathic arthritis. None of the patients met the criteria for juvenile idiopathic arthritis according to the classification criteria of the International League of Associations for Rheumatology. Increasing awareness of pachydermodactyly and achieving accurate diagnoses can reduce unnecessary diagnostic tests, treatments, and patient anxiety.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"164-172"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Aeroallergen sensitization rate and its multifactorial influences in continental Croatia: a cross-sectional study.","authors":"Vesna Vukičević Lazarević, Ivan Marković","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Aims: </strong>To assess the rate of sensitization to airborne allergens in continental Croatia and the related variables. A secondary aim was to assess the frequency of pollen-food syndrome.</p><p><strong>Methods: </strong>This cross-sectional study enrolled 2133 participants referred to Special Hospital for Pulmonary Diseases, Zagreb, from January 2 to December 31, 2022. Patients underwent skin prick test, and data on age, area of residence, smoking status, referring physician, and the presence of respiratory disease were gathered from electronic health records.</p><p><strong>Results: </strong>The rate of sensitization in our sample was 48.86%, and rate of polysensitization was 75.91%, with grass pollen being the predominant allergen. Sensitization rates to all airborne allergens significantly increased compared with a 2003-2006 cohort. Men had higher rates of sensitization, and sensitivity to certain allergens varied based on age. Patients diagnosed with rhinitis exhibited the highest rates of sensitization and mostly sought medical attention from allergists. Conversely, asthma patients who did not have rhinitis exhibited reduced rates of sensitization and were mostly treated by pulmonologists. Birch tree pollen was the primary aeroallergen responsible for pollen-food syndrome, regardless of the age group.</p><p><strong>Conclusions: </strong>Our findings contribute to the existing body of research on sensitization to aeroallergens in Europe and stress the importance of multidisciplinary management of allergic respiratory disorders.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"82-91"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ivana Jurin, Irzal Hadžibegović, Hrvoje Jurin, Diana Rudan, Nikola Pavlović, Marija Radić, Šime Manola, Vladimir Trkulja
{"title":"Dapagliflozin vs empagliflozin in patients with chronic heart failure: a registry analysis.","authors":"Ivana Jurin, Irzal Hadžibegović, Hrvoje Jurin, Diana Rudan, Nikola Pavlović, Marija Radić, Šime Manola, Vladimir Trkulja","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Aim: </strong>To assess the relative efficacy of dapagliflozin and empagliflozin in routinely treated chronic heart failure (CHF) patients.</p><p><strong>Methods: </strong>Data from a registry of prevalent and incident CHF patients were used to set up cohorts (new-user design) of patients started on dapagliflozin or empagliflozin in addition to other guideline-directed therapy. Cohorts were mutually balanced on a range of characteristics, and were assessed for the incidence of a composite of all-cause death/major adverse cardiac events (primary outcome) over the initial 6 months of treatment, and for New York Heart Association (NYHA) functional class at 6 months (secondary outcome). Frequentist and Bayes estimates were generated for the dapagliflozin vs empagliflozin comparison.</p><p><strong>Results: </strong>In both prevalent (dapagliflozin n=393, empagliflozin n=328) and incident (dapagliflozin n=124, empagliflozin n=116) patients, those prescribed dapagliflozin had somewhat higher incidence of the primary outcome, but the confidence intervals were wide (RR=1.385, 95%CI 0.882-2.173 [prevalent], RR=2.192, 95%CI 0.765-6.282 [incident]), and were more likely to present with a worse NYHA class at 6 months (OR=1.552, 95%CI 1.142-2.108 [prevalent], OR=1.503, 95%CI 0.844-2.676 [incident]). In the pooled data, primary events (n=102) were more common in dapagliflozin-prescribed patients (frequentist estimate RR=1.519, 95%CI 1.239-1.861; Bayes RR=1.380, 95%CrI 0.981-1.944). Dapagliflozin-prescribed patients were also more likely to have a worse NYHA class at 6 months (OR=1.540, 95%CI 1.208-1.962; Bayes OR=1.425, 95%CrI 1.098-1.781).</p><p><strong>Conclusion: </strong>CHF patients prescribed with dapagliflozin had poorer outcomes than their empagliflozin-prescribed peers over the initial 6 months of treatment. Data emphasize a need for a direct randomized comparison of the two treatments in this setting.</p>","PeriodicalId":10796,"journal":{"name":"Croatian Medical Journal","volume":"66 2","pages":"135-152"},"PeriodicalIF":1.5,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12093124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}