Результаты поиска

Многомерное профилирование и модели риска, основанные на клиническом развертывании АИ, в МГУС и миеломе.

Моноклональная гаммопатия неопределённого значения (MGUS), храпающая миелома (SMM) и множественная миелома (MM) образуют континуум расстройств плазменных клеток, причем прогрессировать от MGUS до MM трудно предсказать. Нынешние модели стратификации риска, в значительной степени основанные на клинических, лабораторных и цитогенетических маркерах, не отражают молекулярную сложность, лежащую в основе развития заболеваний, что ограничивает их прогнозную точность. Последние достижения в области мультиомики, включая геномику, транскриптомику, протеомику и метаболомику, позволили глубже понять молеку

Долгосрочная стабильность и производительность генных движителей на основе Cas9/Guide RNA в анофелиновых комарах.

Разрабатываются стратегии изменения численности населения с целью борьбы с распространением анофелиных комаров паразитов, вызывающих человеческую малярию. Эти подходы направлены на сокращение заболеваемости и заболеваемости за счет распространения доминирующих генов антипаратионного эффекта среди переносчиков инфекции. Для того чтобы штаммы могли оказывать эпидемиологическое воздействие, они должны в течение продолжительного периода времени сохранять свойства привода и подавления паразитов. Three Gene-drive штаммы, AcTP13 и AcTP43 в Anopheles coluszii и AgTP13 в Anopheles gambiae, с автономным

Проект геномной последовательности архангиума. Штурвал Cb G35.

В рамках усилий по изучению миксобактериальных биосинтетических путей продукта был получен проект геномной последовательности архипелага штамма Cb G35. Анализ генома с использованием прогнозов антиSMASH 49 - биосинтетические пути естественного продукта. Этот геном будет способствовать изучению миксобактериальных вторичных биосинтетических путей метаболита.

Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients.

Vincristine (VCR) is an important component of curative chemotherapy for many childhood cancers. Its main side effect is VCR-induced peripheral neuropathy (VIPN), a dose limiting toxicity. Some children are more susceptible to VIPN, which is at least partially dependent on genetic factors and pharmacokinetics (PK). In this study, we identify and replicate genetic variants associated with VCR PK and VIPN. Patient samples from a randomized clinical trial studying the effect of administration duration of VCR on VIPN in 90 patients were used. PK sampling was conducted on between one and five occas

The molecular make up of smoldering myeloma highlights the evolutionary pathways leading to multiple myeloma.

Smoldering myeloma (SMM) is associated with a high-risk of progression to myeloma (MM). We report the results of a study of 82 patients with both targeted sequencing that included a capture of the immunoglobulin and MYC regions. By comparing these results to newly diagnosed myeloma (MM) we show fewer NRAS and FAM46C mutations together with fewer adverse translocations, del(1p), del(14q), del(16q), and del(17p) in SMM consistent with their role as drivers of the transition to MM. KRAS mutations are associated with a shorter time to progression (HR 3.5 (1.5-8.1), p = 0.001). In an analysis of ch

Данные наблюдений и генетических данных свидетельствуют о наличии связи между изменяемыми факторами риска и распространенностью и серьезностью нейроиммунологических расстройств.

Гравис (MG), множественный склероз (MS) и расстройства спектра нейромиэлита (NMOSD) являются разнородной группой редких нейроиммунологических расстройств, частотность которых в последние годы возросла. Взаимосвязь между изменяемыми факторами риска и нейромнологическими расстройствами не в полной мере понятна. МЕТОДЫ: Мы использовали многократную логистическую регрессию для оценки взаимосвязи между 38 факторы риска и two Нейроиммунологические заболевания с использованием данных почти 500,000 :: отдельные лица из Биобанка Великобритании. Кроме того, мы подали заявление two- выборка менделианских

IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.

In the past few years, immunotherapy of tumors has become an extensive research hotspot, and the value of IKZF family genes in the tumor microenvironment has also been increasingly recognized. However, the expression of the IKAROS family zinc finger 3 (IKZF3) gene in human head and neck squamous cell carcinoma (HNSCC) and its prognostic value were not reported for the main subset until now. In the present study, we analyzed the relationship between IKZF3 gene expression and the survival of HNSCC patients. To evaluate the potential of IKZF3 as a prognostic biomarker for HNSCC comprehensively, m

Current landscape of gene-editing technology in biomedicine: Applications, advantages, challenges, and perspectives.

The expanding genome editing toolbox has revolutionized life science research ranging from the bench to the bedside. These "molecular scissors" have offered us unprecedented abilities to manipulate nucleic acid sequences precisely in living cells from diverse species. Continued advances in genome editing exponentially broaden our knowledge of human genetics, epigenetics, molecular biology, and pathology. Currently, gene editing-mediated therapies have led to impressive responses in patients with hematological diseases, including sickle cell disease and thalassemia. With the discovery of more e

Применение искусственного интеллекта в перипостетической суставной инфекции.

Перипростетическая суставная инфекция (ПСО) представляет собой one Из наиболее разрушительных осложнений, вызванных общей совместной артропластикой, часто требующих дополнительных операций и антимикробной терапии, и потенциально ведущих к инвалидности. Это значительно увеличивает нагрузку как на пациентов, так и на систему здравоохранения. С учетом значительных страданий, причиняемых ПСО, его профилактика и лечение уже давно являются ключевыми факторами, вызывающими озабоченность. Вместе с тем сохраняются проблемы, связанные с точной оценкой индивидуального риска, предотвращением инфекции, сов

Targeting aberrant DNA methylation in mesenchymal stromal cells as a treatment for myeloma bone disease.

Multiple myeloma (MM) progression and myeloma-associated bone disease (MBD) are highly dependent on bone marrow mesenchymal stromal cells (MSCs). MM-MSCs exhibit abnormal transcriptomes, suggesting the involvement of epigenetic mechanisms governing their tumor-promoting functions and prolonged osteoblast suppression. Here, we identify widespread DNA methylation alterations of bone marrow-isolated MSCs from distinct MM stages, particularly in Homeobox genes involved in osteogenic differentiation that associate with their aberrant expression. Moreover, these DNA methylation changes are recapitul

Stage-specific biomarkers in triple-negative breast cancer: Preliminary findings from bioinformatics approaches.

BackgroundIntegrated bioinformatics approaches were used to identify stage-specific candidate genes and potential drug targets in triple-negative breast cancer (TNBC).MethodsMicroarray (164 early-stage, 33 advanced-stage, and 53 normal samples) and RNA-seq (113 normal, 163 early-stage, and 30 advanced-stage TNBC samples) datasets were analyzed. Differentially expressed genes (DEGs) were identified, followed by co-expression analysis using Weighted Gene Co-expression Network Analysis (WGCNA) and protein-protein interaction analysis using the STRING database. miRNA co-regulation was evaluated us

Selective JAK2/ABL dual inhibition therapy effectively eliminates TKI-insensitive CML stem/progenitor cells.

Polymyalgia rheumatica (PMR) is a common disorder in the elderly population. The diagnosis is based upon recognition of a clinical syndrome, consisting of pain and stiffness in the shoulder and pelvic girdle, muscle tenderness of the upper and lower limbs and nonspecific somatic complaints. In addition, in most cases the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) concentration are highly elevated. Although PMR and giant cell arteritis (GCA) are commonly regarded as two clinical variations of the same disease, their clinical picture is quite different. Whilst in PMR the m

Impact of germline predisposition genes to hematologic malignancies on transplant outcomes and donor selection.

INTRODUCTION: Germline predisposition gene mutations may influence outcomes in patients undergoing hematopoietic stem cell transplantation (HSCT). METHODS: This retrospective study of 558 patients undergoing HSCT (allo-HSCT in 557 cases, auto-HSCT in 1 case) evaluated the impact of germline predisposition gene mutations on outcomes. RESULTS: Enrichment of HAVCR2 mutations in B-NHL and UNC13D mutations in MDS was associated with poorer prognosis. While homozygous mutation carriers (7.5%) overall did not have reduced survival, their outcomes were significantly better with unrelated versus rela

Clinical and Genomic Epidemiology of Carbapenem-Nonsusceptible Citrobacter spp. at a Tertiary Health Care Center over 2 Decades.

Carbapenem-nonsusceptible Citrobacter spp. (CNSC) are increasingly recognized as health care-associated pathogens. Information regarding their clinical epidemiology, genetic diversity, and mechanisms of carbapenem resistance is lacking. We examined microbiology records of adult patients at the University of Pittsburgh Medical Center (UMPC) Presbyterian Hospital (PUH) from 2000 to 2018 for CNSC, as defined by ertapenem nonsusceptibility. Over this time frame, the proportion of CNSC increased from 4% to 10% (P = 0.03), as did daily defined carbapenem doses/1,000 patient days (6.52 to 34.5; R2 =

Towards precision medicine: advances in 5-hydroxymethylcytosine cancer biomarker discovery in liquid biopsy.

Robust and clinically convenient biomarkers for cancer diagnosis, early detection, and prognosis have great potential to improve patient survival and are the key to precision medicine. The advent of next-generation sequencing technologies enables a more sensitive and comprehensive profiling of genetic and epigenetic information in tumor-derived materials. Researchers are now able to monitor the dynamics of tumorigenesis in new dimensions, such as using circulating cell-free DNA (cfDNA) and tumor DNA (ctDNA). Mutation-based assays in liquid biopsy cannot always provide consistent results across

A Systematic Review of Machine Learning Techniques in Hematopoietic Stem Cell Transplantation (HSCT).

Machine learning techniques are widely used nowadays in the healthcare domain for the diagnosis, prognosis, and treatment of diseases. These techniques have applications in the field of hematopoietic cell transplantation (HCT), which is a potentially curative therapy for hematological malignancies. Herein, a systematic review of the application of machine learning (ML) techniques in the HCT setting was conducted. We examined the type of data streams included, specific ML techniques used, and type of clinical outcomes measured. A systematic review of English articles using PubMed, Scopus, Web o

Dynamic Prediction of Survival Outcomes in Multiple Myeloma.

Background: Multiple myeloma (MM) remains an incurable plasma cell malignancy characterized by marked clinical heterogeneity. Existing prognostic frameworks, including the International Staging System (ISS) and FISH-defined cytogenetic risk, are anchored at diagnosis and do not capture the evolutionary dynamics of disease or treatment response, leaving an unmet need for risk models that retain prognostic validity longitudinally. Methods: Using transcriptomic data from 762 CD138-selected MM plasma cells from newly diagnosed patient samples in the MMRF CoMMpass study (NCT01454297), we computed s

Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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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

Adding recombinant AAVs to the cancer therapeutics mix.

Gene therapy is a powerful biological tool that is reshaping therapeutic landscapes for several diseases. Researchers are using both non-viral and viral-based gene therapy methods with success in the lab and the clinic. In the cancer biology field, gene therapies are expanding treatment options and the possibility of favorable outcomes for patients. While cellular immunotherapies and oncolytic virotherapies have paved the way in cancer treatments based on genetic engineering, recombinant adeno-associated virus (rAAV), a viral-based module, is also emerging as a potential cancer therapeutic thr

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… The limitations and hurdles of using rAAVs, namely natural immunity to certain serotypes present in individual patients, a relatively small genome size (4.7–5 kba), documented production of neutralizing antibodies to various serotypes, low chance of genomic integration into the host genome, and possible …