Результаты поиска

Причинная роль общих аутоиммунных заболеваний в межститиальном цистите/болезнечном синдроме пузырьков: исследование менделианского случайного заболевания (MR).

Результаты наблюдений свидетельствуют о том, что на показатели межститиального цитита/болезненного синдрома пузырей (IC/BPS) могут влиять аутоиммунные заболевания (AID), хотя причинно-следственные связи трудно определить на основе данных наблюдений из-за риска остаточного смешения. Мы использовали менделианскую случайность (MR) для изучения причинно-следственной связи нескольких AID на IC/BPS. Наша двунаправленная two- анализ МОР был основан на обобщенных статистических данных, полученных в ходе самых последних всеобъемлющих исследований, касающихся всего генома. Этот конкретный подход был исп

Case Report: Application of ex-vivo drug sensitivity testing to identify personalized treatment options for an adolescent with diffuse midline glioma.

Diffuse midline glioma (DMG) is a pediatric brain cancer that has a dismal prognosis with limited treatment options. We present the treatment course and outcome of an adolescent male diagnosed with a thalamic DMG carrying a histone H3.3 K27M (H3K27M) alteration. Tumor biopsies were taken at diagnosis for histological analysis, molecular profiling, and ex vivo drug sensitivity testing (DST). Seven months after diagnosis, the patient had recurrent/progressive disease after radiotherapy and an ineffective molecular-guided therapy based on tumor molecular profiling. The patient then started a nove

The PATHFINDER Study: Assessment of the Implementation of an Investigational Multi-Cancer Early Detection Test into Clinical Practice.

To examine the extent of the evaluation required to achieve diagnostic resolution and the test performance characteristics of a targeted methylation cell-free DNA (cfDNA)-based multi-cancer early detection (MCED) test, ~6200 participants ≥50 years with (cohort A) or without (cohort B) ≥1 of 3 additional specific cancer risk factors will be enrolled in PATHFINDER (NCT04241796), a prospective, longitudinal, interventional, multi-center study. Plasma cfDNA from blood samples will be analyzed to detect abnormally methylated DNA associated with cancer (i.e., cancer "signal") and a cancer signal ori

A Retrospective Review and Comprehensive Tumour Profiling of Advanced Non-Melanomatous Cutaneous Spindle Cell Neoplasms Treated with Immune-Checkpoint Inhibitors.

Non-melanomatous cutaneous spindle cell neoplasms are a rare group of malignancies that present a diagnostic challenge, and for which there is a lack of consensus on how to best manage patients with advanced disease and only limited reports of immune-checkpoint inhibitor (ICI) responses. In this study, we performed a single-center retrospective review of treatment outcomes for all advanced non-melanomatous cutaneous spindle cell neoplasms treated with ICIs. Blinded histopathology reviews occurred to confirm each diagnosis. Comprehensive tumour profiling included whole exome sequencing for tumo

Совпадение в полном тексте источника
… Tumour Mutational Burden (TMB) and Signature Analysis Calculation of TMB occurred using pyTMB (v1.3, Curie Institute, Paris, France) on the variant call files with an effective genome size of 33.28 megabases. …

Genetically determined telomere length and multiple myeloma risk and outcome.

Telomeres are involved in processes like cellular growth, chromosomal stability, and proper segregation to daughter cells. Telomere length measured in leukocytes (LTL) has been investigated in different cancer types, including multiple myeloma (MM). However, LTL measurement is prone to heterogeneity due to sample handling and study design (retrospective vs. prospective). LTL is genetically determined; genome-wide association studies identified 11 SNPs that, combined in a score, can be used as a genetic instrument to measure LTL and evaluate its association with MM risk. This approach has been

Unraveling potential gene biomarkers for dengue infection through RNA sequencing.

Dengue virus hijacks host cell mechanisms and immune responses in order to replicate efficiently. The interaction between the host and the virus affects the host's gene expression, which remains largely unexplored. This pilot study aimed to profile the host transcriptome as a potential strategy for identifying specific biomarkers for dengue prediction and detection. High-throughput RNA sequencing (RNA-seq) was employed to generate host transcriptome profiles in 16 dengue patients and 10 healthy controls. Differentially expressed genes (DEGs) were identified in patients with severe dengue and t

Genome-wide DNA methylation analysis pre- and post-lenalidomide treatment in patients with myelodysplastic syndrome with isolated deletion (5q).

Myelodysplastic syndrome (MDS) with isolated deletion of chromosome 5q (MDS del5q) is a distinct subtype of MDS with quite favorable prognosis and excellent response to treatment with lenalidomide. Still, a relevant percentage of patients do not respond to lenalidomide and even experience progression to acute myeloid leukemia (AML). In this study, we aimed to investigate whether global DNA methylation patterns could predict response to lenalidomide. Genome-wide DNA methylation analysis using Illumina 450k methylation arrays was performed on n=51 patients with MDS del5q who were uniformly treat

The Relevance of Mass Spectrometry Analysis for Personalized Medicine through Its Successful Application in Cancer "Omics".

Mass spectrometry (MS) is an essential analytical technology on which the emerging omics domains; such as genomics; transcriptomics; proteomics and metabolomics; are based. This quantifiable technique allows for the identification of thousands of proteins from cell culture; bodily fluids or tissue using either global or targeted strategies; or detection of biologically active metabolites in ultra amounts. The routine performance of MS technology in the oncological field provides a better understanding of human diseases in terms of pathophysiology; prevention; diagnosis and treatment; as well a

Tumor-educated leukocytes mRNA as a diagnostic biomarker for non-small cell lung cancer.

BackgroundThis study aimed to investigate the diagnostic and prognostic role of tumor-educated leukocytes (TELs) mRNA in Chinese patients with non-small cell lung cancer (NSCLC).MethodsThe TELs collected underwent total RNA isolation. RNA-sequencing (RNA-seq) technology was used to analyze the transcriptome of the TELs. The mRNA expression levels of differential genes were analyzed by RT-qPCR. Statistical analyses were performed using Prism and SPSS by Mann-Whitney nonparametric test, Kruskal-Wallis test and one-way ANOVA.ResultsWe used RNA-seq technology to screen 95 differential genes (DEGs)

The Hedgehog-GLI pathway in embryonic development and cancer: implications for pulmonary oncology therapy.

Transcriptional regulation and epigenetic mechanisms closely control gene expression through diverse physiological and pathophysiological processes. These include the development of germ layers and post-natal epithelial cell-tissue differentiation, as well as, involved with the induction, promotion and/or progression of human malignancies. Diverse studies have shed light on the molecular similarities and differences involved in the stages of embryological epithelial development and dedifferentiation processes in malignant tumors of epithelial origin, of which many focus on lung carcinomas. In

Translational Bioinformatics Applied to the Study of Complex Diseases.

Translational Bioinformatics (TBI) is defined as the union of translational medicine and bioinformatics. It emerges as a major advance in science and technology by covering everything, from the most basic database discoveries, to the development of algorithms for molecular and cellular analysis, as well as their clinical applications. This technology makes it possible to access the knowledge of scientific evidence and apply it to clinical practice. This manuscript aims to highlight the role of TBI in the study of complex diseases, as well as its application to the understanding and treatment o

Current Status and Perspectives of Dual-Targeting Chimeric Antigen Receptor T-Cell Therapy for the Treatment of Hematological Malignancies.

Single-targeted chimeric antigen receptor (CAR) T cells tremendously improve outcomes for patients with relapsed/refractory hematological malignancies and are considered a breakthrough therapy. However, over half of treated patients experience relapse or refractory disease, with antigen escape being one of the main contributing mechanisms. Dual-targeting CAR T-cell therapy is being developed to minimize the risk of relapse or refractory disease. Preclinical and clinical data on five categories of dual-targeting CAR T-cell therapies and approximately fifty studies were summarized to offer insig

Совпадение в полном тексте источника
… The impact of lentiviral vector genome size and producer cell genomic to gag-pol mRNA ratios on packaging efficiency and titre Mol. Ther. Methods Clin. Dev. 2021 21 574 584 10.1016/j.omtm.2021.04.007 34095341 PMC8141603 46. Bos T.J. De Bruyne E. Van Lint S. Heirman C. Vanderkerken K. …

Exploring the evolving role of apolipoproteins in oncology: global trends and emerging frontiers.

BackgroundMetabolic reprogramming, especially lipid metabolism, is crucial in cancer progression and treatment resistance. Apolipoproteins are crucial targets for research as they regulate autophagy, oxidative stress, and chemoresistance. A systematic bibliometric and bioinformatics approach is necessary to identify trends and elucidate the molecular mechanisms linking apolipoproteins to cancer.MethodsA systematic bibliometric analysis was conducted using the Web of Science Core Collection and PubMed. VOSviewer, CiteSpace, and the Bibliometrix R package were employed to analyze and visualize c

Targeting Non-coding RNA for Glioblastoma Therapy: The Challenge of Overcomes the Blood-Brain Barrier.

Glioblastoma (GBM) is the most malignant form of all primary brain tumors, and it is responsible for around 200,000 deaths each year worldwide. The standard therapy for GBM treatment includes surgical resection followed by temozolomide-based chemotherapy and/or radiotherapy. With this treatment, the median survival rate of GBM patients is only 15 months after its initial diagnosis. Therefore, novel and better treatment modalities for GBM treatment are urgently needed. Mounting evidence indicates that non-coding RNAs (ncRNAs) have critical roles as regulators of gene expression. Long non-coding

Многоомиковый подход к выявлению и подтверждению общей генетической архитектуры в ревматоидном артрите, множественном склерозе и типе 1 диабет: интеграция данных GWAS, GEO, MSigDB и scRNA-seq.

Заметная коморбидность аутоиммунных заболеваний подчеркивает их общие генетические основы, особенно в ремутатоидном артрите (RA), типе 1 диабет (T1D) и множественный склероз (MS). Однако точные компоненты и механизмы этой общей генетической структуры по-прежнему плохо понимаются. Здесь мы показываем, что ROMO1 является ключевым генетическим компонентом между RA, MS и T1D. Используя дифференциальное выражение гена (DGE) и регрессионный анализ LASSO массивных данных RNA-seq из целых кровеносных тканей, мы определили ROMO1 в качестве потенциального общего генетического фактора. Анализ нескольких

Basket Trials for Intractable Cancer.

Currently, genomic characterization has become standard of care for tumor types such as non-small cell lung cancer, breast cancer, melanoma, and colorectal cancer. A deep understanding of genomic alterations in different tumor types would help identify potentially actionable genomic changes which occur across a wide variety of tumor types. A basket trial is a new type of clinical trial for which eligibility is based on the presence of a specific genomic alteration, irrespective of histology. Basket trials are phase II screening trials for the off-label use of a targeted drug in patients with t

Множество случаев заболевания раком молочной железы во время лечения: доклад по делу.

Исследования: Рак груди представляет собой злокачественную опухоль, которая угрожает здоровью женщин. Среди больных раком молочной железы от 4,2% до 17% могут страдать многочисленными первичными злокачественными новообразованиями. Случаи заболевания раком груди и множественной миэломой относительно редки в клинической практике. В этом документе сообщается об одном пациенте, у которого во время лечения рака груди развилась миелома. Клинические данные: Пациентка была 56-летней женщиной, попавшей в больницу из-за "животы в течение 4 дней, через год после лечения рака левой груди". Пациенту диагно

Clonal Hematopoiesis and CAR T Cell Therapy: From Biological Crosstalk to Clinical Implications.

Clonal hematopoiesis (CH) is increasingly recognized as a significant biological phenomenon in aging and cancer, marked by the expansion of hematopoietic stem and progenitor cells harboring somatic mutations in genes associated with myeloid neoplasms. While CH is strongly linked to a spectrum of inflammatory diseases and hematologic malignancies, its role in shaping responses to cancer immunotherapy-especially chimeric antigen receptor (CAR) T cell therapy-has only recently begun to emerge. This review explores the interplay between CH and CAR T cell therapy, highlighting CH prevalence in trea

Potential drug targets for Neuromyelitis optica spectrum disorders (NMOSD): A Mendelian randomization analysis.

BackgroundCertain peripheral proteins are involved in the development of Neuromyelitis optica spectrum disorders (NMOSD), such as IL-6, complement proteins, and MHC class II molecules. However, the roles of other new protein biomarkers are unclear. Current NMOSD treatments (e.g., intravenous pulse methylprednisolone, or satralizumab for IL-6 receptor inhibition) can only manage symptoms, necessitating the identification of new drug targets to treat NMOSD. The objective of this study is to identify potential drug targets for NMOSD through Mendelian randomization (MR) analysis, thereby addressin

A review of big data and medical research.

Universally, the volume of data has increased, with the collection rate doubling every 40 months, since the 1980s. "Big data" is a term that was introduced in the 1990s to include data sets too large to be used with common software. Medicine is a major field predicted to increase the use of big data in 2025. Big data in medicine may be used by commercial, academic, government, and public sectors. It includes biologic, biometric, and electronic health data. Examples of biologic data include biobanks; biometric data may have individual wellness data from devices; electronic health data include t