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American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.

OBJECTIVE: Vacuoles E1 enzyme X-linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality. METHODS: Given the variability in disease presentation and the limited number of studies to date, no clinical documents currently exist to provide guidance to health care providers about the management of VEXAS. To address this gap, we formed an international multidisciplinary panel of VEXA

Cardiac amyloidosis: From diagnosis to therapeutics breakthroughs.

Cardiac amyloidosis (CA) is a progressive infiltrative cardiomyopathy resulting from the deposition of misfolded amyloid fibrils in the myocardium and heart valves, with the main forms being amyloid light-chain (AL), transthyretin-related (ATTR) (wild-type or hereditary), and amyloid A amyloidosis. Although historically underdiagnosed, recent advances in non-invasive imaging techniques such as cardiac magnetic resonance imaging and bone scintigraphy have significantly improved its recognition. This review outlines the current diagnostic approaches and therapeutic advancements in CA, emphasizin

A comprehensive review on pain: Model, target, therapy, and prospect (Review).

Pain serves as both a protective physiological response essential for species survival and a global health issue affecting human well‑being and societal development. The present review systematically summarized and analyzed the research progresses on pain through a multidimensional analytical framework encompassing animal models, molecular targets, therapeutic approaches and future prospects. In animal modeling, neuropathic pain paradigms have evolved from traditional mechanical compression to composite models that combine dynamic displacement and chemical stimulation. Cancer‑induced pain mode

Функциональные и эффективные изменения связи связаны с когнитивными характеристиками при расстройстве спектра аквапорина-4 антитело-позитивного нейромиелита.

Нейронные механизмы, лежащие в основе когнитивной дисфункции аквапорина-4 антителопозитивного нейромиелита оптика спектрального расстройства (AQP4 + NMOSD), остаются неясными. Исследования в области функционального подключения (ФК) выявили изменения на уровне сети, однако мало что известно об эффективных взаимодействиях, поддерживающих компенсационную реорганизацию. Для устранения этого пробела мы изучили вопрос о том, каким образом изменения в функциональной и эффективной связи в рамках крупномасштабных сетей соотносятся с когнитивными показателями AQP4 + NMOSD. С этой целью 20 пациентов AQP4

Безопасность и эффективность дироксимеля фумарата в повторной форме множественного склероза: систематический обзор и метаанализ.

ЦЕЛЬ: Оценка безопасности и эффективности Diroximel Fumarate (DRF) у пациентов с различными формами восстановления MS (RMS) на основе систематического обзора и метаанализа. МЕТОДЫ: Был проведен систематический обзор и метаанализ в соответствии с руководящими принципами ПРИСМА. Базы данных < < Скопус > > , < < Пубмед > > и < < Кокран > > CNTRAL были подвергнуты обыску до декабря 6, 2024, для клинических испытаний и наблюдений за ДРР в РСМ. К числу критериев приемлемости относятся исследования, посвященные оценке безопасности или эффективности ОРР, за исключен

Chemotherapy-induced thrombocytopenia and platelet transfusion in patients with diffuse large B-cell lymphoma.

BackgroundCurrently, the risk factors associated with chemotherapy-induced thrombocytopenia (CIT) in patients with diffuse large B-cell lymphoma (DLBCL) are still undefined. Our study aimed to analyze the effects of risk factors on thrombocytopenia and to identify the threshold for infusion platelets of CIT patients who have received platelet transfusions.MethodsWe conducted a retrospective analysis of 523 patients with DLBCL from 2011 to 2013. The clinical and demographic parameters were extracted, and the risk factors associated with CIT were analyzed. The threshold for platelet transfusions

Japan Atherosclerosis Society (JAS) Guidelines for Prevention of Atherosclerotic Cardiovascular Diseases 2022.

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A Comprehensive Evaluation of CAR-T Cell Gene Therapy, Tracing its Revolutionary Clinical Breakthroughs and Advancements Towards Next-Generation Engineering.

BACKGROUND: CAR-T cell gene therapy has advanced from an experimental concept to a standard curative treatment for selected hematologic malignancies. Substantial clinical evidence has established CAR-T therapy as a cornerstone for relapsed/refractory B-cell malignancies and multiple myeloma, demonstrating durable, long-term remissions. In 2025, the U.S. Food and Drug Administration (FDA) eliminated the Risk Evaluation and Mitigation Strategy (REMS) requirement, reflecting improved clinical management of Cytokine Release Syndrome (CRS) and Immune Effector Cell-Associated Neurotoxicity Syndrome

Personalized Lifestyle Interventions for Prevention and Treatment of Obesity-Related Cancers: A Call to Action.

The increasing global burden of cancer necessitates innovative approaches to prevention and treatment. Lifestyle factors such as diet, physical activity, and smoking significantly contribute to cancer. At the same time, current guidelines are based on a one-size-fits-all approach, which limits their effectiveness across diverse populations. Obesity is a well-documented risk factor for cancer, directly affecting 13 types of cancer. The complex interplay of genetic, metabolic, hormonal, and environmental factors in obesity's etiology highlights the need for more tailored approaches to obesity-re

Next-generation sequencing: advances and applications in cancer diagnosis.

Technological advances have led to the introduction of next-generation sequencing (NGS) platforms in cancer investigation. NGS allows massive parallel sequencing that affords maximal tumor genomic assessment. NGS approaches are different, and concern DNA and RNA analysis. DNA sequencing includes whole-genome, whole-exome, and targeted sequencing, which focuses on a selection of genes of interest for a specific disease. RNA sequencing facilitates the detection of alternative gene-spliced transcripts, posttranscriptional modifications, gene fusion, mutations/single-nucleotide polymorphisms, smal

Bone Research Society 2021 Abstracts

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The Role of Fc-like Receptor 3 in the Pathophysiology of Rheumatoid Arthritis.

The pathogenesis of rheumatoid arthritis involves a complex interplay of genetic predisposition, environmental factors, and autoimmune mechanisms that lead to chronic inflammation of the synovial membrane. Fc-like receptor 3 (FcRL3) is a receptor encoded by the FCRL3 gene, located on the long arm of chromosome 1 at 1q23.1. Polymorphisms in the promoter region of FCRL3, rather than elsewhere in the gene, primarily affect the level of protein expression, which is of clinical significance. Understanding the structure of FcRL3, particularly in the context of genetic variants, is therefore importan

Совпадение в полном тексте источника
… Genetic Risk Scores and Number of Autoantibodies in Patients with Rheumatoid Arthritis. Ann. Rheum. Dis. 2015;74:762–768. doi: 10.1136/annrheumdis-2013-204173. 55. Eyre S., Bowes J., Potter C., Worthington J., Barton A. …

A study on a real-world data-based VTE risk prediction model for lymphoma patients.

BackgroundPatients diagnosed with malignant tumors exhibit a markedly elevated risk of venous thromboembolism (VTE), which has a negative impact on their prognosis. Currently, there is no reliable predictive model specifically for thrombosis risk in lymphoma patients. This study aims to develop and validate a machine learning model leveraging real-world data, offering a dependable risk assessment tool for the early identification of VTE in lymphoma patients.MethodsWe retrospectively analyzed 605 hospitalized patients with lymphoma between January 2019 and June 2024. Candidate predictors includ

Совпадение в полном тексте источника
… Firstly, as this was a retrospective analysis, several clinically relevant variables, e.g., genetic risk scores, immunophenotypic scores (IPS), Throly scores and Khorana scores, were either unavailable or severely lacking because some assessments are not routinely performed in patients with lymphoma …

Case Report: Trametinib in the treatment of patients with metastatic lung adenocarcinoma harboring NF1 mutation: a case series and literature review.

BackgroundThe neurofibromin 1 (NF1) protein regulates the downstream RAS/RAF/MEK/ERK pathway and functions as a tumor suppressor. Somatic pathogenic mutations in NF1 are found in approximately 4.7%-10% of NSCLC, with a higher frequency in lung adenocarcinomas, reaching up to 15% in certain cohorts. Trametinib, a MEK inhibitor, has demonstrated activity in tumors with NF1 alteration in preclinical models, and clinical activity in low-grade glioma and plexiform neurofibromas in neurofibromatosis type 1. Trametinib had only limited clinical efficacy in other tumor types with NF1 mutations in the

Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.

BackgroundCryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited or de novo gain-of-function mutations in the NOD-like receptor 3 (NLRP3) gene. At present, there is no report about the variation of R262W in China.Case presentationWe reported a 3-year-old Chinese boy who had recurrent fever without obvious inducement, bilateral conjunctival congestion, and urticarial-like rash. La

Конвергенция глобальных эпидемий: диабет как модулятор нейродегенеративных и нейро-воспалительных расстройств.

Диабет меллитус (ДМ) и неврологические расстройства быстро совпадают с глобальным бременем на здоровье, обусловленным старением населения, растущей распространенностью метаболического синдрома, а также ограниченностью возможностей раннего обнаружения и коррекции заболеваний для многих неврологических синдромов. Помимо своей устоявшейся роли в периферической нейропатии, связанной с диабетом, DM все чаще используется в качестве изменяющего фактора риска, фенотипа и прогнозирования широкого спектра заболеваний центральной и периферической нервной системы. В ходе этого обзора мы обобщаем текущие э

Резюме научных материалов, представленных ГКОМ 2019 : Берлин, Германия. 27 - 30 Март 2019

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Artificial intelligence in cancer immunotherapy: current trends in predicting response and personalizing treatment.

Artificial intelligence (AI) can transform cancer immunotherapy by enabling more accurate prediction of treatment responses, the discovery of specific biomarkers, and the development of personalised treatment plans. Traditional single-marker biomarkers (PD-L1, TMB, MSI) lack consistency across tumour types and cannot be used to assess tumour heterogeneity or the dynamic tumour microenvironment (TME). This review synthesises developments in multimodal AI models that combine genomics, transcriptomics, radiomics, digital pathology (pathomics), circulating biomarkers, and clinical evidence to crea

Изучение связи между 91 циркуляцией воспламенительных протеинов и нейродегенеративными заболеваниями: двухнаправленный анализ менделей и биоинформатики.

Циркуляция подстрекательских белков играет важную роль в патогенезе нейродегенеративных заболеваний (НДД). Однако точная причинно-следственная связь и механизмы, лежащие в основе их взаимодействия, по-прежнему остаются неясными. МЕТОДЫ: В каталоге GWAS были получены данные по 91 циркуляционному подстрекательскому протеину в рамках исследования ассоциации геномов (GWAS). Кроме того, данные GWAS о болезни Паркинсона (PD), болезни Альцгеймера (AD), амиотропическом боковом склерозе (ALS), множественном склерозе (MS) и ишемическом инсульте (IS) были получены в рамках проекта IEU Open GWAS. Для анал

Резюме книги: Тема: 13th Международный симпозиум на тему " Ходжкин лимфома " ; октябрь 2024

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