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Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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Tumor Whole-Genome Sequencing for Prediction of Venous Thromboembolism in Patients With Metastasized Solid Cancer.

BACKGROUND: International guidelines suggest prophylactic anticoagulation for patients with cancer at high risk of venous thromboembolism (VTE). Here, we evaluated whether tumor whole-genome sequencing data may improve the selection of high-risk patients. METHODS: In a pan-cancer cohort of 3087 patients, associations of candidate clinical predictors, the germline extended 297-single nucleotide polymorphism polygenic risk score, tumor mutational characteristics, and somatic tumor mutations with VTE were estimated by calculating hazard ratios (HRs). RESULTS: During 12-month follow-up, 237 (7.7

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… All analyses were performed using R software (R Foundation for Statistical Computing, Vienna, Austria; https://www.R-project.org/ ), in particular using the packages psfmi , mice , and rms . A P <0.05 was considered statistically significant. …

Targeting B cells in IgA nephropathy: from pathogenic insight to therapeutic horizon.

Immunoglobulin A nephropathy (IgAN) remains the most common primary glomerulonephritis globally. Advances in mucosal immunology have illuminated the role of dysregulated B cell activity, galactose-deficient IgA1 (Gd-IgA1) and Gd-IgA1-specific antibody formation in driving disease pathogenesis. Therapeutic targeting of the mucosal immune system and, more specifically, B cell survival and differentiation pathways have entered late-stage development, offering a mechanistically guided approach to disease modification. Targeting of the gut-associated lymphoid tissue of the terminal ileum, B cell ac

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… ACKNOWLEDGEMENTS The topic of this review was also presented during the 62nd Congress of the European Renal Association, Vienna, Austria, 4–7 June 2025. FUNDING This paper is part of a Supplement that was financially supported by the ERA. …

Patient-reported outcomes with subcutaneous immunoglobulin in secondary immunodeficiency.

Subcutaneous (SCIG) and intravenous immunoglobulin (IVIG) replacement are both used to prevent infections in patients with secondary immunodeficiency (SID). Compared with IVIG, SCIG has fewer systemic side effects and, additionally, facilitates home-based treatment. Shared decision-making practice should include discussion of aspects such as patient preference as well as the associated risks and benefits of treatment. We review the available evidence for the use of SCIG treatment in patients with SID, focusing on patient-reported outcomes (PROs). In most studies, there were improvements to hea

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… The conventional SCIG therapies available for the treatment of SID are shown in Table 1 ; data on hyaluronidase-facilitated SCIG 10% (HyQvia, Baxalta Innovations GmbH, a Takeda company, Vienna, Austria) are available but the focus of this review is conventional SCIG. …

Psychiatric disorders in adolescent and young adult cancer survivors in Korea.

BackgroundAlthough adolescent and young adult (AYA) cancer survivors have an increased risk of psychiatric disorders, limited evidence has been suggested. We aimed to determine the risk of psychiatric disorders among AYA cancer survivors.Materials and methodsA retrospective population-based cohort study based on the Korea National Health Insurance Service database was carried out. All men and women aged 15-39 years diagnosed with cancer between 2006 and 2019 (N = 88 965) were included and matched with controls (1 : 4). The prevalence ratios (PRs) of psychiatric disorders were calculated in can

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… Analyses were carried out using SAS® Visual Analytics (SAS Institute Inc., Cary, NC) and R 4.1.2 (R Foundation for Statistical Computing, Vienna, Austria). Results The mean age of study participants was 32.2 years and 39% were men ( Table 1 ). …

Extramedullary disease is associated with severe toxicities following B-cell maturation antigen CAR T-cell therapy in multiple myeloma.

Extramedullary disease (EMD) in multiple myeloma (MM) is associated with poor outcomes following B-cell maturation antigen (BCMA)-targeted chimeric antigen receptor (CAR) T therapy, yet its impact on treatment-related toxicity remains unclear. This study evaluates the impact of active EMD on toxicity, efficacy, and survival in patients with MM treated with idecabtagene vicleucel (ide-cel) or ciltacabtagene autoleucel (cilta-cel). We conducted a retrospective cohort study of all patients with MM who received ide-cel (N=32) or cilta-cel (N=76) as standard-of-care therapy at our institution from

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… Vienna , Austria: R Foundation for Statistical Computing ; 2025 . https://www.R-project.org/ 23. Juluri KR Wu QV Voutsinas J . Severe cytokine release syndrome is associated with hematologic toxicity following CD19 CAR T-cell therapy . …

Innate [18F]Fluorodeoxyglucose PET bone networks of lung cancer patients predict survival.

PurposePrognostication of lung cancer patients remains challenging clinically. This study aims to address this problem by investigating the utility of bone glucose metabolism networks as a prognostic biomarker of lung cancer patients. The rationale for targeting bone metabolic networks specifically comes from the long-recognised role of bone in innate immunity and the recent appreciation of the key role bones play in regulating whole-body glucose metabolism.MethodsThis study is a retrospective analysis of data from the multi-centre trial ACRIN 6668 on non-small cell lung carcinoma (NSCLC). Con

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… Austria: Salzburg; 2023. 46. Ebot EM, Duncan DL, Tolba K, Fabrizio D, Frampton GM, Comment LA, Albacker LA. Deletions on 9p21 are associated with worse outcomes after anti-PD-1/PD-L1 monotherapy but not chemoimmunotherapy. Npj Precision Oncol. 2022;6:44. 10.1038/s41698-022-00286-4. 47. …

Access to novel cancer medicines in Europe: inequities across countries and their drivers.

BackgroundAn increasing number of cancer medicines are being developed and approved. Access to these medicines is important for improving patient outcomes and overall quality of care, yet achieving equitable access across countries in Europe is challenging.MethodThis study reviews inequities in access to novel cancer medicines in countries of the European Union (EU) and European Economic Area (EEA), and neighboring countries, at three critical stages: regulatory approval, reimbursement approval, and use in clinical practice. It also examines reasons contributing to these inequities. The analys

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… Spending on cancer medicines (measured in list prices and therefore overestimated) ranged from €31 per capita in Latvia to €195 per capita in Austria, with countries in Western Europe tending to record the highest spending levels, followed by countries in Southern and Northern Europe, and CEE countries …

Treatment of Medication-Related Osteonecrosis of the Jaw Without and With the Use of Advanced Platelet-Rich Fibrin: A Retrospective Clinical Study.

BACKGROUND: Medication-related osteonecrosis of the jaw (MRONJ) is drug-induced bone destruction that is exposed for a minimum of 6 to 8 weeks in patients who have not received head and neck radiotherapy and who have not been diagnosed with facial bone metastases. MRONJ treatment outcomes are unpredictable. Therefore, alternative treatment methods are being explored, such as blood-derived platelet-rich preparations enriched with growth factors, including advanced platelet-rich fibrin (A-PRF). The presence of growth factors may enhance healing and reduce post-procedure complications. There are

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… The bottom of the lesion was cleaned down to the bleeding bone using a rose head bur (Meisinger, Hager, and Meisinger GmbH, Neuss, Germany) mounted on a surgical straight handpiece (S-11 L G, W&H Dentalwerk Bürmoos GmbH, Bürmoos, Austria) at 40,000 rpm, with abundant irrigation using 0.9% NaCl. …

Myeloid neoplasms after CD19-directed CAR T cells therapy in long-term B-cell lymphoma responders, a rising risk over time?

Therapy-related myeloid neoplasms (t-MN), including myelodysplastic neoplasms (t-MDS) and acute myeloid leukemia (t-AML), have emerged as significant late complications after CAR T cell therapy. We retrospectively analyzed 539 patients with B cell lymphoma treated with CD19 directed CAR T cell therapy across four French centers. Cumulative incidences of t-MN was estimated with relapse or death treated as competing risk. Univariate and propensity score matching (PSM) analyses were conducted to assess risk factors with age and the number of prior treatments as covariates. After a median follow-u

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… Data were analyzed using R software package, release 4.3.3 (R Foundation for Statistical Computing, Vienna, Austria). …

Реальная эффективность вакцины против рекомбинантного зостера ≥50- Взрослые, страдающие аутоиммунными заболеваниями.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Данные реального мира об эффективности вакцины (ВЭ) прилегающей рекомбинантной вакцины от зостера (ВЗВ) для предотвращения герпеса зостера (ВЗ) у лиц с аутоиммунными заболеваниями (АИД) ограничены. Для устранения этого пробела в знаниях мы намеревались провести оценку VE 2 Дозы RZV против HZ в ≥50- взрослые в возрасте от одного года с отобранными АИД (ремуматоидный артрит, воспалительный кишечник, системный волшебный эритематос, множественный склероз (MS), псориаз (PsO) и псориатический артрит). Мы провели ретроспективное когортное исследование с использованием деидентиф

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… Presented at: European Alliance of Associations for Rheumatology (EULAR) 2024, June 12–15, 2024, Vienna, Austria. Constenla, D. et al. …

LimphoTEC: Ретроспективное исследование реального мира по восстановлению лимфоцитов после лимфопенсии у пациентов с множественным склерозом, обработанных диметилФумаратом во Франции.

ВВЕДЕНИЕ: Диметилфумарат (ДМФ) продемонстрировал благоприятную характеристику риска получения выгод у пациентов с множественным склерозом (РРМС), излучающим повторные выбросы. Некоторые пациенты могут развивать лимфопенцию на ДМФ; поэтому LimphoTEC произвела оценку абсолютного количества лимфоцитов (ALC) после прекращения ДМФ. МЕТОДЫ: &quot; LimphoTEC &quot; - это ретроспективное многоцентральное исследование пациентов с RRMS в регистре Français de la Sclerose en Plaques. Времена для восстановления АЛК и лимфакопии были оценены методом Каплан-Мейер. Университетский и многовариантный анализ поз

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… Statistical analyses were performed with SAS 9.4 software (SAS Institute, Cary, NC, USA) and R 4.0.5 software (with survival package; R Foundation for Statistical Computing, Vienna, Austria). Data were summarized using descriptive analysis including medians and interquartile ranges (IQRs). …

SARS-CoV-2 Вакцины и множественный склероз: обновление.

В высшей степени заразная зоонозная болезнь коронавируса 2019 (В тыс.COVID-19), вызванной острым острым респираторным синдромом коронавируса 2 (В тыс.SARS-CoV-2), была объявлена пандемией Всемирной организацией здравоохранения в марте 11, 2020, и это привело к глобальному кризису в области здравоохранения с почти 777 million подтвержденные инфекции и более 7 million к ноябрю 10, 2024.1-3 Со временем появились различные варианты, при этом Омикрон и его подлинии доминировали над миром в прошлом. 3 Годы.4 Кроме того, растет число свидетельств, касающихся иммунной реакции SARS-CoV-2 вакцины, особе

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… Inactivated, adjuvanted Marketing authorization issued: 30/03/2023 √ Therapeutic indication only for booster Valneva Valneva Austria GmbH Inactivated, adjuvanted Marketing authorization: 24/06/2022 ⊗ Withdrawal of the marketing authorization: 12/10/2023 VidPrevtyn β Sanofi Pasteur Protein subunit Marketing …

Survival outcomes and healthcare utilization between immigrant patients and Danish-born patients with hematological cancers: a Danish population-based study.

Overall survival (OS) for patients with a hematological cancer may differ between immigrant and Danish-born patients due to disparities in socioeconomic status, health literacy, and language proficiency. This cohort study aimed to investigate survival and hospitalization according to immigrant status while controlling for confounders. Patients with newly diagnosed hematological cancer in 2000-2020 were identified in the Danish nationwide hematological registers and stratified into Danish-born, Western, and non-Western patients. Patients were followed from diagnosis until death, 31st December 2

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… R Foundation for Statistical Computing, Vienna, Austria. Available from: http://www.R-project.org/ . 32. Michae C, Krasnik A, Norredam M, Michaëlis C, Krasnik A, Norredam M. Introduction of user fee for language interpretation: effects on use of interpreters in Danish health care. …

Opportunistic CT for Prediction of Adverse Postoperative Events in Patients with Spinal Metastases.

The purpose of this study was to assess the value of body composition measures obtained from opportunistic abdominal computed tomography (CT) in order to predict hospital length of stay (LOS), 30-day postoperative complications, and reoperations in patients undergoing surgery for spinal metastases. 196 patients underwent CT of the abdomen within three months of surgery for spinal metastases. Automated body composition segmentation and quantifications of the cross-sectional areas (CSA) of abdominal visceral and subcutaneous adipose tissue and abdominal skeletal muscle was performed. From this,

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… All statistical analyses were performed using R version 3.6.3 (The R Foundation, Vienna, Austria), R studio version 1.3.887 (RStudio, Boston, MA, USA), and Stata 15.0 (StataCorp LP, College Station, TX, USA). …

Lenalidomide in the treatment of anti-myelin-associated glycoprotein neuropathy: A phase 1 study to identify the maximum tolerated dose.

BackgroundAnti-myelin-associated glycoprotein (MAG) neuropathy is a debilitating demyelinating polyneuropathy with no approved therapies. Our primary objective was to ascertain lenalidomide safety and maximum tolerated dose (MTD) in anti-MAG neuropathy.MethodsThis phase 1b, open-label, single-arm, dose-finding trial was conducted from 2019 through 2022. The original design included a dose-escalation/extension phase followed by a dose-expansion phase. Three doses of lenalidomide were evaluated: 10, 15, and 25 mg. The main outcome was the MTD.ResultsEleven patients enrolled (10 men), with a mean

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… R Foundation for Statistical Computing, Vienna, Austria, https://www.R‐project.org/ ). Statistical analysis The starting dose of lenalidomide was assigned at the time of patient enrollment and driven by the occurrence of DLT events in preceding enrollments. …

Post-transplant cyclophosphamide versus anti-thymocyte globulin after reduced intensity peripheral blood allogeneic cell transplantation in recipients of matched sibling or 10/10 HLA matched unrelated donors: final analysis of a randomized, open-label, multicenter, phase 2 trial.

The use of post-transplantation cyclophosphamide (PTCy) for graft-versus-host disease (GVHD) prophylaxis is not established after reduced intensity conditioning (RIC) hematopoietic stem cell transplantation (HSCT) from fully matched donors. This was a randomized, open-label, multicenter, phase 2 trial. All patients received a RIC regimen with fludarabine, intravenous busulfan for 2 days (Flu-Bu2), and a peripheral blood stem cell (PBSC) graft from a matched related or 10/10 HLA-matched unrelated donor. Patients were randomly assigned to receive anti-thymocyte globulin (ATG) 5 mg/kg plus standa

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… R Foundation for Statistical Computing, Vienna, Austria. URL https://www.R-project.org/ ). This study was registered with ClinicalTrials.gov, identifier number: NCT02876679 . Results Between April 6, 2017, and October 10, 2019, a total of 90 patients from 11 centers were included. …

Coping in patients with hematologic malignancies undergoing hematopoietic cell transplantation.

AbstractPatients undergoing hematopoietic cell transplantation (HCT) must cope with physical and psychological symptoms. Yet, studies examining pre-HCT coping are limited. We aimed to characterize pre-HCT coping, evaluate the association of coping with baseline quality of life (QOL) and psychological distress, and identify sociodemographic factors associated with pre-HCT coping. We conducted a cross-sectional analysis of baseline data from a multisite randomized supportive care intervention trial among patients with hematologic malignancies undergoing allogeneic or autologous HCT. We assessed

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… We performed all statistical analyses using R version 4.2.1 (R Foundation for Statistical Computing, Vienna, Austria). Results Baseline characteristics We enrolled 360 patients. Table 1 displays baseline patient characteristics. …

Decoding Cancer Risk: Understanding Gene-Environment Interactions in Cancer Development.

While lifestyle choices or behavioral patterns remain the most significant factors influencing cancer risk, environmental exposure to certain chemicals, both manufactured and natural, may also contribute to an individual's likelihood of developing cancer. This interplay of factors, coupled with an aging demographic and shifting lifestyle patterns, has led to an increasing prevalence of cancer in recent years. This study examines the environmental and behavioral factors that contribute to anomalies in the immune system and increase the risk of developing cancer. Significant environmental and oc

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… Vienna (Austria): United Nations Scientific Committee on the Effects of Atomic Radiation; 2008. UNSCEAR (United Nations Scientific Committee on the Effects of Atomic Radiation). (2000). Sources and effects of ionizing radiation. 23. …

Удовлетворенность пациентами с множественным склерозом Терифлуномида: систематический обзор наблюдений.

ИССЛЕДОВАНИЯ: Исследование степени удовлетворенности лечением множественных склерозов (MS) имеет важнейшее значение для обеспечения ориентированного на пациентов ухода и улучшения соблюдения требований к лечению. Мы поставили перед собой цель провести обзор исследований, в ходе которых был использован вопросник по лечению сатисфакции для лекарств (TSCM) для оценки степени удовлетворенности пациентов с синдромом терафлюном. МЕТОДЫ: PubMed, Scopus, Web of Science, PsycINFO, Библиотека Кокрана и Стипендиат Google 2 - независимые эксперты по рассмотрению для выявления всех соответствующих исследов

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… Sweden 17 Multiple Sclerosis and Related Disorders ·Interferons (60) ·Glatiramer acetate (14) ·Dimethyl fumarate (9) ·Other (3) Teriflunomide 14 mg once-daily (200) ≥18 y 29.5 44.1 ± 10.4 6 months and 24 months TSQM 1.4 Guger et al. (2022) ( 37 ) TAURUS -MS Observational (cohort) Austria …