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Расширение пространственной стеноскопии для крупных тканей: обнаружение архитектуры тканей клеточного уровня за пределами обычных платформ с iSCALE.

Последние достижения в технологии пространственной транскриптомики (ST) изменили нашу способность профилировать выражение генов при сохранении критического пространственного контекста в тканях. Однако существующие платформы ST сопряжены с высокими затратами, длительными сроками перехода, низкой разрешающей способностью, ограниченным генным охватом и небольшими зонами захвата тканей, что препятствует их широкому применению. Здесь мы представляем iSCALE, метод, который предсказывает выражение гена супер разрешения и автоматически аннотирует архитектуру ткани клеточного уровня для крупных тканей,

Development and Clinical Translation of Approved Gene Therapy Products for Genetic Disorders.

The field of gene therapy is striving more than ever to define a path to the clinic and the market. Twenty gene therapy products have already been approved and over two thousand human gene therapy clinical trials have been reported worldwide. These advances raise great hope to treat devastating rare and inherited diseases as well as incurable illnesses. Understanding of the precise pathomechanisms of diseases as well as the development of efficient and specific gene targeting and delivery tools are revolutionizing the global market. Currently, human cancers and monogenic disorders are indicati

The DNA methylation landscape of multiple myeloma shows extensive inter- and intrapatient heterogeneity that fuels transcriptomic variability.

BackgroundCancer evolution depends on epigenetic and genetic diversity. Historically, in multiple myeloma (MM), subclonal diversity and tumor evolution have been investigated mostly from a genetic perspective.MethodsHere, we performed an analysis of 42 MM samples from 21 patients by using enhanced reduced representation bisulfite sequencing (eRRBS). We combined several metrics of epigenetic heterogeneity to analyze DNA methylation heterogeneity in MM patients.ResultsWe show that MM is characterized by the continuous accumulation of stochastic methylation at the promoters of development-related

A Clinical Viewpoint on the Use of Targeted Therapy in Advanced Gastric Cancer.

The development of therapies for advanced gastric cancer (GC) has made significant progress over the past few years. The identification of new molecules and molecular targets is expanding our understanding of the disease's intricate nature. The end of the classical oncology era, which relied on well-studied chemotherapeutic agents, is giving rise to novel and unexplored challenges, which will cause a significant transformation of the current oncological knowledge in the next few years. The integration of established clinically effective regimens in additional studies will be crucial in managin

Hyperprogression disease induced by Sintilimab combined with Oxaliplatin and S-1 after surgery: a case report and literature review.

ObjectiveTo investigate the risk factors, underlying mechanisms, and preventive strategies associated with hyperprogressive disease (HPD) induced by immunotherapy.MethodsWe analyzed the clinical data of a patient who developed HPD following palliative gastrectomy and received a combination therapy of Sintilimab, S-1 (tegafur, gimeracil, and oteracil potassium), and Oxaliplatin (SOX). Additionally, a literature review on tumor immunotherapy was conducted to further explore the risk factors and mechanisms of HPD.ResultsIn this case, the development of HPD was associated with a high postoperative

Mass Spectrometry-Based Proteomics: Analyses Related to Drug-Resistance and Disease Biomarkers.

Mass spectrometry-based proteomics is a key player in research efforts to characterize aberrant epigenetic alterations, including histone post-translational modifications and DNA methylation. Data generated by this approach complements and enrich datasets generated by genomic, epigenetic and transcriptomics approaches. These combined datasets can provide much-needed information on various mechanisms responsible for drug resistance, the discovery and validation of potential biomarkers for different diseases, the identification of signaling pathways, and genes and enzymes to be targeted by futur

Duodenal plasmablastic lymphoma in an human immunodeficency virus-negative patient: a case report.

BackgroundPlasmablastic lymphoma is a rare type of non-Hodgkin lymphoma that generally presents an aggressive clinical course. It is strongly associated with human immunodeficency virus (HIV) infection, and the most common site of involvement is the oral cavity. Although extraoral PBL has been reported in several places, small intestine involvement is extremely rare.Case presentationHere, we describe an exceptionally rare case of a 24-year-old immunocompetent Asian Male patient with newly diagnosed plasmablastic lymphoma of the duodenum. The patient was admitted to our oncology facility due to

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… Genomic profiling of plasmablastic lymphoma using array comparative genomic hybridization (aCGH): revealing significant overlapping genomic lesions with diffuse large B-cell lymphoma. J Hematol Oncol. 2009;2(1):1–6. doi: 10.1186/1756-8722-2-47. 17. …

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Choroid plexus carcinomas (CPCs) are rare, aggressive pediatric brain tumors with no established curative therapy for relapsed disease, and poor survival rates. TP53 Mutation or dysfunction correlates with poor or no survival outcome in CPCs. Here, we report the case of a 4 month-old female who presented with disseminated CPC. After initial response to tumor resection and adjuvant-chemotherapy, the tumor recurred and metastasized with no response to aggressive relapse therapy suggesting genetic predisposition. This patient was then enrolled to a Molecular Guided Therapy Clinical Trial. Genomic

Diffuse large B cell lymphoma originating from the maxillary sinus with skin metastases: A case report and review of literature.

BackgroundDiffuse large B-cell lymphoma (DLBCL) is the most common type of malignant lymphoma (ML), accounting for 30%-40% of cases of non-Hodgkin's lymphoma (NHL) in adults. Primary paranasal sinus lymphoma is a rare presentation of extranodal NHL that accounts for only 0.17% of all lymphomas. ML from the maxillary sinus (MS) is a particularly rare presentation, and is thus often difficult to diagnose. We have reported the first known case of DLBCL originating from the MS with rapidly occurrent multiple skin metastasis.Case summaryAn 81-year-old Japanese man visited our hospital due to contin

Является ли DEXI множественным склерозом удобочитаемым геном?

Генетический ландшафт множественного склероза (MS) был тщательно просчитан, что позволило глубже понять молекулярные механизмы расстройства. В ходе первых исследований были выявлены ключевые гены, связанные с иммунной системой, в частности с Т клетками, которые имеют решающее значение для MS-чувствительности. В ходе последующих широкомасштабных исследований, проведенных в рамках всей ассоциации генома (GWAS), было выявлено более 200 генетических вариантов, связанных с MS, что выявило сложную взаимосвязь между риском, связанным с MS, и генами, вовлеченными в различные процессы в рамках адаптивн

Обязательный экзамен по патологии: лишний или необходимый?

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Innovative Biomaterials for the Treatment of Bone Cancer.

Bone cancer is a demanding challenge for contemporary medicine due to its high frequency of presentation and significant heterogeneity of malignant lesions developing within the bone. To date, available treatments are rarely curative and are primarily aimed at prolonging patients' survival and ameliorating their quality of life. Furthermore, both pharmacological and surgical therapies are aggravated by a consistent burden of adverse events and subsequent disability due to the loss of healthy bone structural and functional properties. Therefore, great research efforts are being made to develop

RNA метилтрансферазы METTL8 устанавливает m3C32 в митохондриальном tRNASThr/Ser (UCN) для оптимизации структуры trNA и митохондриального перевода.

Модифицированные нуклеотиды в tRNA являются важными определяющими факторами сворачивания, структуры и функции. Здесь мы идентифицируем METTL8 как митохондриальный белок и активный РНК метилтрансферазы, ответственный за установку m3C32 в митохондриале человека (mt-)tRNAThr и mt-tRNAser (UCN). METTL8 имеет перекрестные связи с антикодоновой стволовой петлей (ASL) многих мт-тРНК в клетках, в связи с чем возникает вопрос о том, каким образом достигается целевая специфичность метилирования. Расчленение элементов распознавания mt-tRNA выявило наличие U34G35 и t6A37/(ms2)i6A37, которые одновременно п

Value-based health care frameworks for the health technology assessments of "omics" technologies: an international survey.

BackgroundDespite omics technologies gaining traction in clinical settings, particularly in oncology, challenges persist in their widespread adoption due to the pre-requisite robust evidence supporting efficacy and cost-effectiveness. This study aims to explore the experiences of organizations working in the health technology assessment (HTA) field in evaluating omics technologies, with a particular focus on the adoption and application of specific assessment frameworks.MethodsWe conducted a global survey to gather insights into current practices and frameworks used in HTA evaluations of omics

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… Comparative genomic hybridization arrays, microarray, DNA sequencing (Sanger sequencing and NGS), and polymerase chain reaction for diagnostics and research applications. …

Aberration of miRNAs Expression in Leukocytes from Sporadic Amyotrophic Lateral Sclerosis.

BACKGROUND: Accumulating evidence indicates that miRNAs play an important role in the development of amyotrophic lateral sclerosis (ALS). Most of previous studies on miRNA dysregulation in ALS focused on the alterative expression in ALS animal model or in limited samples from European patients with ALS. In the present study, the miRNA expression profiles were investigated in Chinese ALS patients to explore leukocytes miRNAs as a potential biomarker for the diagnosis of ALS. METHODS: We analyzed the expression profiles of 1733 human mature miRNAs using microarray technology in leukocytes obtai

Current Advances in Coptidis Rhizoma for Gastrointestinal and Other Cancers.

Cancer is a serious disease with an increasing number of reported cases and high mortality worldwide. Gastrointestinal cancer defines a group of cancers in the digestive system, e.g., liver cancer, colorectal cancer, and gastric cancer. Coptidis Rhizoma (C. Rhizoma; Huanglian, in Chinese) is a classical Chinese medicinal botanical drug for the treatment of gastrointestinal disorders and has been shown to have a wide variety of pharmacological activity, including antifungal, antivirus, anticancer, antidiabetic, hypoglycemic, and cardioprotective effects. Recent studies on C. Rhizoma present sig

Математическое моделирование нейроинфламмации в нейродегенеративных заболеваниях.

Связанные с возрастом нейродегенеративные заболевания, такие, как амиотропический боковой склероз (ALS), болезнь Альцгеймера (AD) и болезнь Паркинсона (PD), вызывают все большую озабоченность в сфере общественного здравоохранения. В то время как патология этих заболеваний является сложной, хроническое центральное воспаление, или нейроинфламмация, обычно наблюдается по многим нейродегенеративным заболеваниям. Несмотря на огромные ресурсы и перспективные доклинические тесты, эффективных методов лечения заболеваний не существует. Такая неудача объясняется плохим биологическим пониманием этой реак

A 3-dimensional математическая модель микробного распространения, которая порождает характерное кумулятивное распределение относительного плотности в кишечных микробиомах.

Микробиомы кишечника сильно различаются между людьми, главным образом из-за различий в образе жизни и физиологии. Однако мало что известно о глубинных процессах или правилах, которые формируют сложное микробное сообщество. В этом документе мы показываем, что кумулятивное распределение относительного избытка (КРАД) микробных видов можно приблизить с помощью функции закона о силе, и обнаруживаем, что показатель мощности CRAD, полученный из гена 16S rRNA и метагеномических данных для обычных микробиомов кишечника человека и мышей, был таким же, как и в случае :0.9. Аналогичным образом, в CRADs бы

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

CRISPR-Cas: Converting A Bacterial Defence Mechanism into A State-of-the-Art Genetic Manipulation Tool.

Bacteriophages are pervasive viruses that infect bacteria, relying on their genetic machinery to replicate. In order to protect themselves from this kind of invader, bacteria developed an ingenious adaptive defence system, clustered regularly interspaced short palindromic repeats (CRISPR). Researchers soon realised that a specific type of CRISPR system, CRISPR-Cas9, could be modified into a simple and efficient genetic engineering technology, with several improvements over currently used systems. This discovery set in motion a revolution in genetics, with new and improved CRISPR systems being