Jarosław Przybyciński, Maciej F Kozłowski, Michał Witkowski, Ewa Spoz, Michał Spoz, Edyta Gołembiewska
{"title":"Unique case of atypical hemolytic syndrome associated with Purtscher retinopathy and cerebral aneurysm.","authors":"Jarosław Przybyciński, Maciej F Kozłowski, Michał Witkowski, Ewa Spoz, Michał Spoz, Edyta Gołembiewska","doi":"10.20452/pamw.17065","DOIUrl":"10.20452/pamw.17065","url":null,"abstract":"","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Patrycja Mołek-Dziadosz, Aleksandra Woźniak, Anna Furman-Niedziejko, Konrad Pieszko, Joanna Szachowicz-Jaworska, Tomasz Miszalski-Jamka, Maciej Krupiński, Marc R Dweck, Jadwiga Nessler, Andrzej Gackowski
{"title":"Left ventricular ejection fraction assessment: artificial intelligence compared with echocardiography expert and cardiac magnetic resonance measurements.","authors":"Patrycja Mołek-Dziadosz, Aleksandra Woźniak, Anna Furman-Niedziejko, Konrad Pieszko, Joanna Szachowicz-Jaworska, Tomasz Miszalski-Jamka, Maciej Krupiński, Marc R Dweck, Jadwiga Nessler, Andrzej Gackowski","doi":"10.20452/pamw.17104","DOIUrl":"10.20452/pamw.17104","url":null,"abstract":"<p><strong>Introduction: </strong>Cardiac magnetic resonance (CMR) is the gold standard for assessing left ventricular ejection fraction (LVEF). Artificial intelligence (AI)-based echocardiographic analysis is increasingly utilized in clinical practice.</p><p><strong>Objectives: </strong>This study aimed to compare the results of LVEF echocardiography (ECHO) assessed by experts and automated AI, with CMR as the reference standard.</p><p><strong>Patients and methods: </strong>We retrospectively analyzed 118 patients who underwent both CMR and ECHO within 7 days. LVEF measured on CMR was compared with the results obtained from an AI‑ based software, which automatically analyzed all stored digital imaging and communications in medicine loops (multiloop AI analysis) on ECHO. Additionally, AI results were repeated using only 1 best‑ quality loop for 2-chamber view and 1 for 4‑ chamber view (single loop AI analysis) on ECHO. These results were further compared with standard ECHO analysis performed by 2 independent experts. Agreement was investigated using the Pearson correlation and Bland-Altman analysis as well as the Cohen κ and concordance for categorization of LVEF into subgroups (≤30%, 31%-40%, 41%-50%, 51%-70%, and >70%).</p><p><strong>Results: </strong>Both experts demonstrated strong inter‑ reader agreement (R = 0.88; κ = 0.77), and their assessment correlated well with CMR‑ assessed LVEF (expert 1, R = 0.86; κ = 0.74; expert 2, R = 0.85; κ = 0.68). The results of the multiloop AI analysis correlated strongly with those of CMR (R = 0.87; κ = 0.68) and the experts (R = 0.88-0.9; κ = 0.77). The single‑ loop AI analysis demonstrated numerically higher concordance with CMR‑ assessed LVEF (R = 0.89; κ = 0.75) than the multiloop AI analysis and expert analysis.</p><p><strong>Conclusions: </strong>AI‑ based analysis showed similar LVEF assessment results as human expert analysis in comparison with CMR. AI‑ based ECHO analysis is a promising approach, but its results should be interpreted with caution.</p>","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144976373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.","authors":"Przemysław Chmielewski, Grażyna Truszkowska, Grażyna Kostrzewa, Ewa Michalak, Piotr Stawiński, Ilona Kowalik, Ilona Minota, Przemysław Leszek, Łukasz Mazurkiewicz, Jolanta Krzysztoń-Russjan, Rafał Płoski, Zofia T Bilińska","doi":"10.20452/pamw.17083","DOIUrl":"10.20452/pamw.17083","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic variants are the leading cause of dilated cardiomyopathy (DCM). Data on genetic testing in DCM from Central European populations are scarce.</p><p><strong>Objectives: </strong>We sought to determine the genetic architecture of DCM in Poland and to assess its influence on patient clinical characteristics and prognosis.</p><p><strong>Patients and methods: </strong>The study included 280 DCM patients (mean [SD] age, 39 [13] y; 68% men) who underwent next‑generation sequencing or in whom disease‑causing variants were identified using single‑gene testing.</p><p><strong>Results: </strong>DCM‑related variants were identified in 46% of the patients. Variants in titin (TTN) and lamin A/C (LMNA) genes were the most frequent (18% and 8% of the study cohort, respectively). Other genes with variant frequency equal to or above 2% included desmoplakin (DSP), myosin heavy chain 7 (MYH7), sodium voltage‑gated channel α subunit 5 (SCN5A), filamin C (FLNC), BCL2‑associated athanogene 3 (BAG3), and dystrophin (DMD). Positive family history, atrioventricular block, or atrial arrhythmias were found more often in the causative variant carriers, whereas the frequency of left bundle branch block or hypertension was lower. Severe DCM and a composite end point (cardiovascular death, heart transplantation, left ventricular assist device implantation) occurred with similar frequency in gene‑negative DCM and TTN‑related DCM, whereas the prognosis was worse in the remaining variant carriers. The risks of severe DCM and the composite end point were 2.4- and 3‑fold higher, respectively, for LMNA‑related DCM and 2.3- and 2‑fold higher for variants in the other genes.</p><p><strong>Conclusions: </strong>The distribution of causative genetic variants in Polish DCM patients is similar to that in Western European cohorts. The presence of the causative variants in the genes other than TTN is associated with a poorer prognosis.</p>","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144823058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aleksandra Derwich-Rudowicz, Katarzyna B Kubiak, Kacper Wojciechowski, Katarzyna Kobusińska, Norbert Wąsik, Włodzimierz Liebert, Marek Ruchała, Nadia Sawicka-Gutaj
{"title":"Clinically relevant pituitary adenomas: a single-center epidemiological study.","authors":"Aleksandra Derwich-Rudowicz, Katarzyna B Kubiak, Kacper Wojciechowski, Katarzyna Kobusińska, Norbert Wąsik, Włodzimierz Liebert, Marek Ruchała, Nadia Sawicka-Gutaj","doi":"10.20452/pamw.17082","DOIUrl":"10.20452/pamw.17082","url":null,"abstract":"<p><strong>Introduction: </strong>Pituitary adenomas (PAs) are a heterogeneous group of central nervous system lesions that are mostly benign. They account for 13.5%-20% of all primary brain tumors, and their incidence is rising.</p><p><strong>Objectives: </strong>We retrospectively analyzed patients with PA to determine their specific epidemiological characteristics, focusing specifically on a series of surgically resected PAs.</p><p><strong>Patients and methods: </strong>We analyzed all patients diagnosed with PA (n = 1111) and hospitalized in the Department of Endocrinology, Poznań, Poland, between 2018 and 2023, with a special focus on clinically relevant PAs qualified for transsphenoidal surgery (n = 194). Medical history, demographic characteristics, tumor features, and diagnostic results were reviewed. The incidence of PAs was defined as a new diagnosis of PA.</p><p><strong>Results: </strong>We identified 1111 patients with newly diagnosed PA, including 403 men (36.3%), with an annual incidence rate of 4.11/100 000 population. Women were diagnosed at a younger age than men (P <0.001). In the group qualified for surgery (n = 194), the most common diagnosis was nonfunctioning PA (NFPA; 76%). Men were diagnosed with NFPA more often (P = 0.02) and presented with larger tumors (P = 0.005). The patients with NFPA were older at diagnosis (P <0.001). Larger tumors were associated with an increased risk of complications, such as visual field defects, headaches, and hypopituitarism. Although 90% of the patients were diagnosed with multimorbidity and over half with polypharmacy, we did not find any association between comorbidities and the tumor type.</p><p><strong>Conclusions: </strong>Although most PAs were diagnosed in women, clinically relevant tumors were more frequent in men. Male patients were diagnosed with NFPA significantly more often than women, and their tumors were larger at presentation.</p>","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144817965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cutaneous vasculitis manifestations in patients with systemic lupus erythematosus: a comprehensive retrospective analysis with clinical implications.","authors":"Joanna Kosałka-Węgiel, Radosław Dziedzic, Andżelika Siwiec-Koźlik, Magdalena Spałkowska, Lech Zaręba, Mariusz Korkosz","doi":"10.20452/pamw.17077","DOIUrl":"10.20452/pamw.17077","url":null,"abstract":"<p><strong>Introduction: </strong>Systemic lupus erythematosus (SLE) is an autoimmune disease with clinical and laboratory heterogeneity. Data on cutaneous vasculitis (CV) in SLE are limited, especially in the context of its clinical value.</p><p><strong>Objectives: </strong>This study aimed to compare the clinical characteristics, laboratory findings, and treatment patterns of SLE individuals with and without CV to determine if skin vasculitis identified a distinct subset of patients with unique outcomes.</p><p><strong>Patients and methods: </strong>We conducted a retrospective analysis based on medical records of 1021 SLE patients (64 with CV and 957 without CV) treated at the University Hospital in Kraków, Poland, between 2012 and 2022. All patients met the 2019 European Alliance of Associations for Rheumatology / American College of Rheumatology classification criteria for SLE.</p><p><strong>Results: </strong>Overall, CV was observed in 6.27% of the study cohort (n = 64). The patients with CV more often exhibited constitutional symptoms (87.5% vs 76.2%; P = 0.04), joint manifestations (96.9% vs 87.3%; P = 0.02), central nervous system (CNS) involvement (15.6% vs 6.6%; P = 0.007), and heart failure (14.1% vs 4.4%; P <0.001), as compared with the individuals without CV. Higher prevalence of anti-Sjögren syndrome type A (75% vs 59.2%; P = 0.02) and antiribonucleoprotein antibodies (35% vs 20.3%; P = 0.007) was observed in the CV group. Treatment involved more frequent use of azathioprine (51.6% vs 37.5%; P = 0.03), belimumab (9.4% vs 3.7%; P = 0.03), and cyclophosphamide (40.6% vs 27.5%; P = 0.02) in the individuals with CV, as compared with those without CV.</p><p><strong>Conclusions: </strong>SLE patients with CV present with more severe disease, including heart failure and CNS involvement, and a specific autoantibody profile. These individuals may require more aggressive immunosuppressive treatment. Our findings suggest that CV in SLE may serve as a marker of more severe disease, necessitating careful monitoring and more intensive treatment.</p>","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nadia Sawicka-Gutaj, Barbara Bromińska, Ewelina Szczepanek-Parulska, Tomasz Wierzbicki, Małgorzata Janicka-Jedyńska, Marek Ruchała
{"title":"When the adrenal cortex acts as the hypothalamus: a rare case of ectopic corticotropin-releasing hormone production.","authors":"Nadia Sawicka-Gutaj, Barbara Bromińska, Ewelina Szczepanek-Parulska, Tomasz Wierzbicki, Małgorzata Janicka-Jedyńska, Marek Ruchała","doi":"10.20452/pamw.17041","DOIUrl":"10.20452/pamw.17041","url":null,"abstract":"","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Grigoris Gerotziafas, Elmina Lefkou, Peter Marschang, Matija Kozak, Benilde Cosmi, Agata Stanek
{"title":"Real-life application of the European Society for Medical Oncology guidelines for the prevention and treatment of cancer-associated thrombosis: challenges and perspectives.","authors":"Grigoris Gerotziafas, Elmina Lefkou, Peter Marschang, Matija Kozak, Benilde Cosmi, Agata Stanek","doi":"10.20452/pamw.17090","DOIUrl":"10.20452/pamw.17090","url":null,"abstract":"<p><p>Cancer‑associated thrombosis (CAT) is the second leading cause of death in cancer patients, significantly affecting their quality of life, survival, and health care costs. This review summarizes key recommendations from the 2023 European Society for Medical Oncology guidelines on CAT prevention and treatment, illustrated by a real‑world case, and examines barriers to their implementation. CAT risk is multifactorial, shaped by tumor‑related factors (type, stage, time since diagnosis), treatment exposures (anticancer agents, surgery, central venous catheters), and comorbidities, captured by the \"4TS\" rule. Emerging biomarkers (eg, D‑dimer, thrombin generation, coagulome genes) and oncogenic mutations may refine risk stratification. The guidelines recommend routine assessment using models such as the Khorana score, COMPASS‑CAT, or Vienna‑CATS, with COMPASS‑CAT demonstrating superior predictive accuracy for patients with breast, lung, ovarian, or colon cancer. For high‑risk ambulatory patients, thromboprophylaxis is recommended for up to 6 months, with regular reassessment of risk thereafter. Treatment of CAT favors low‑molecular‑weight heparin or oral direct FXa inhibitors (apixaban, edoxaban, rivaroxaban), with incidental venous thromboembolism managed similarly to symptomatic events. The API‑CAT study supports low‑dose apixaban (2.5 mg twice a day) as a safer long‑term treatment. Screening for antiphospholipid antibodies guides therapeutic strategies. Major challenges for optimization of the antithrombotic treatment include renal impairment, thrombocytopenia, and treatment adherence. Oral direct FXa inhibitors may improve quality of life. Effective CAT management requires individualized care, strong clinician-patient communication, and education. The guideline implementation remains suboptimal. Closing the gap demands national strategies promoting health‑provider training, patient empowerment, e‑health applications, equitable access, and dedicated CAT outpatient clinics for sustained, personalized care.</p>","PeriodicalId":49680,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":4.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144976382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}