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Therapy-related AML: long-term outcome in a large cohort of AML-patients with intensive and non-intensive therapy.

Therapy-related acute myeloid leukemia (t-AML) often exhibits adverse (genetic) features. There is ongoing discussion on the impact of t-AML on long-term outcome in AML. Therefore, we retrospectively analyzed clinical and biological characteristics of 1133 AML patients (225 t-AML patients and 908 de novo AML patients) with a median follow-up of 81.8 months. T-AML patients showed more adverse genetic alterations, higher age and more comorbidities as compared to de novo AML. Median OS in intensively treated t-AML patients was 13.7 months as compared to 39.4 months in de novo AML (p < 0.001). Wit

Cancer-Associated Thrombosis: A Clinical Scoping Review of the Risk Assessment Models Across Solid Tumours and Haematological Malignancies.

Cancer-associated thrombosis (CAT) is a leading cause of death in cancer patients receiving outpatient chemotherapy. The latest guidelines emphasize stratifying the patients in terms of CAT risks periodically. Multiple risk assessment models (RAMs) were developed to classify patients and guide thromboprophylaxis to high-risk patients. This study aimed to discuss and highlight different RAMs across various malignancy types with their related advantages and disadvantages. A scoping review was conducted using predefined search terms in three scientific databases, including Google Scholar, Science

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… Tic-ONCO score(2018) 28 | n = 391 | | Adds genetic risk score to KS | C-statistic 0.73 HR = 1.69 | NA | Disadvantages: Application of genetics in a real-life setting is questionable The MDACC CAT model 29 | n= 548 | Breast, Gastrointestinal non-pancreas, Pancreas, Genitourinary non-kidney Kidney, Gynaecological …

Pancreatitis: TIGAR-O Version 2 Risk/Etiology Checklist With Topic Reviews, Updates, and Use Primers.

The Toxic-metabolic, Idiopathic, Genetic, Autoimmune, Recurrent and severe acute pancreatitis and Obstructive (TIGAR-O) Pancreatitis Risk/Etiology Checklist (TIGAR-O_V1) is a broad classification system that lists the major risk factors and etiologies of recurrent acute pancreatitis, chronic pancreatitis, and overlapping pancreatic disorders with or without genetic, immunologic, metabolic, nutritional, neurologic, metaplastic, or other features. New discoveries and progressive concepts since the 2001 TIGAR-O list relevant to understanding and managing complex pancreatic disorders require an up

Multical Sclerosis Severity Alle res10191329A и Когнитивная функция: UK Biobank Study.

В рамках исследования, проведенного в рамках всей ассоциации генома по вопросу о жесткости множественных склерозов, генетический вариант rs10191329A увязывался с долгосрочной инвалидностью и в качестве одного из определяющих факторов исхода учитывала устойчивость мозга. Мы гипотезали, что rs10191329A может повлиять на когницию других неврологических заболеваний и здоровый контроль. Мы изучили связь между rs10191329A и когницией с использованием времени реакции, жидкого интеллекта и возможных тестов памяти в Биобанке Великобритании. Мы наблюдали слабые, но последовательные связи между rs1019132

Успешное лечение гуселкумаба у пациента с коморбидом псориазом и амиотропическим латеральным склерозом: тематическое исследование и обзор литературы.

Псориаз имеет генетические последствия и может быть вызван такими факторами, как инфекция, стресс и образ жизни. Хроническая доска psoriasis, наиболее распространенная форма, включает в себя ключевые роли для IL-17 и IL-23 в его патогенезе. Амиотропический боковой склероз (ALS) — нейродегенеративное расстройство, характеризующееся дегенерацией моторных нейронов, что приводит к слабости мышц и атрофии. В настоящее время нет лекарства от БАС, а лечение является симптоматическим и направлено на повышение качества жизни. Сочетание псориаза и БАС является относительно редким. Хотя биологические аге

Artificial intelligence for risk assessment and outcome prediction in malignant haematology.

Risk stratification is the backbone of clinical decision-making for patients with haematological malignancies. Models currently used in routine clinical practice often rely on static rules, conventional statistics and expert consensus. While pragmatic and accessible, these models fail to capture the complex biological interactions and patient heterogeneity, especially as data dimensionality grows given the availability of more comprehensive molecular analysis. Artificial intelligence (AI), particularly machine learning (ML), offers the potential to process such high-dimensional data, uncover l

Functional variant of IL33 is associated with survival of osteosarcoma patients.

ObjectivesPrevious genome-wide association study showed that GLDC/IL33 loci were associated with overall survival in patients with osteosarcoma (OS). We performed a replication study to explore whether variants of GLDC/IL33 are associated with the survival of OS patients and to further verify their functional role in the gene expression.MethodsA total of 216 patients with OS were enrolled. The overall survival time was calculated from the date of diagnosis till the date of last follow-up or mortality. Two SNPs were genotyped, including rs55933544 and rs74438701. OS specimens were obtained from

Abstracts From JADPRO Live 2019: Washington State Convention Center • Seattle • October 24-27.

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Emerging predictive biomarkers for novel therapeutics in peripheral T-cell and natural killer/T-cell lymphoma.

Peripheral T-cell lymphoma (PTCL) and natural killer/T-cell lymphoma (NKTCL) are rare subtypes of non-Hodgkin's lymphoma that are typically associated with poor treatment outcomes. Contemporary first-line treatment strategies generally involve the use of combination chemoimmunotherapy, radiation and/or stem cell transplant. Salvage options incorporate a number of novel agents including epigenetic therapies (e.g. HDAC inhibitors, DNMT inhibitors) as well as immune checkpoint inhibitors. However, validated biomarkers to select patients for individualized precision therapy are presently lacking,

Изучение общих генных сигнатур и механизмов между тремя аутоиммунными заболеваниями по массовому секвенированию РНК в сочетании с последовательности одноклеточного РНК.

ВАЖНЕЙШАЯ ИНФОРМАЦИЯ: Появляющиеся данные подчеркивают наличие механизмов коморбидности среди аутоиммунных заболеваний (АИД), при этом инновационные технологии, такие, как секвенирование РНК в одной клетке (scRNA-seq), значительно улучшают разведку в этой области. Цель этого исследования заключалась в изучении общих генов трех AID-Multiple Sclerosis (MS), Systemic Lupus Erythematosus (SLE) и Rheumatoid Artritis (RA) с использованием баз данных биоинформатики, а также в выявлении потенциальных биомаркеров для ранней диагностики. Мы извлекли стеноскопические данные о пациентах MS, SLE и RA из об

Aspects of vincristine-induced neuropathy in hematologic malignancies: a systematic review.

PurposeVincristine is widely used as anticancer therapy for a variety of hematological malignancies. The treatment is limited by progressive vincristine-induced neuropathy, possibly including both peripheral sensory and motor nerves, autonomic nervous functions, and the central nervous system. This dose-limiting side-effect can diminish quality of life and, furthermore, cause discontinuation of vincristine treatment. The present review elucidates the current knowledge regarding vincristine-induced neuropathy in hematologic malignancies, focusing on neuropathy assessment, clinical and molecular

Методы машинного обучения для классификации множественного склероза и болезни Альцгеймера с использованием геномных данных.

Сложные заболевания создают трудности в прогнозировании из-за их многофакторного и полигенного характера. В этом исследовании используется машинное обучение (ML) для анализа геномных данных из британского биобанка с целью прогнозирования геномной предрасположенности к таким сложным болезням, как множественный склероз (MS) и болезнь Альцгеймера (AD). Мы проверили логистическую регрессию (LR), методы ансамбля деревьев и модели глубокого обучения с этой целью. LR продемонстрировал замечательную стабильность в различных поднаборах данных, превосходя глубинные подходы к обучению, которые продемонст

Premature hair graying: a multifaceted phenomenon.

Premature hair graying (PHG) is the early loss of natural hair color, influenced by genetic, biological, and environmental factors. This review discusses the significant psychological impacts of PHG and explores its underlying mechanisms, related health conditions, and available treatments. The review examines the roles of genetics, oxidative stress, and lifestyle factors such as smoking and diet in premature graying. It also considers associated medical conditions and current and emerging treatment options. This overview aims to improve understanding of PHG and its broader implications.

Раскрывая причинно-следственную связь между ожирением и множественным склерозом: систематический обзор литературы.

Множественный склероз (MS) представляет собой многогранное нейродегенеративное расстройство под влиянием генетики и образа жизни. В рамках этого систематического обзора литературы изучается роль six Гены, связанные с ожирением, включая жировую массу и ожирение (FTO), ингибиторную молекулу FAS 2 (FAIM2), тип болезни Ньеманн-пиков C1-like 1 (НПК-1), glucosamine-6-phosphate daminase 2 (ВНПДА2), melanocortin-4 Рецептор (MC4R) и нейротрофический коэффициент, полученный из мозга (BDNF) в контексте MS. МЕТОДЫ: Поиск литературы осуществлялся с использованием баз данных Embase, Scopus, Cochrane, Web of

Unveiling the shared etiology between gastrointestinal disorders and valvular heart diseases through a genome-wide pleiotropy study.

This study explores the genetic link between gastrointestinal disorders and valvular heart disease (VHD), aiming to clarify shared mechanisms through a genome-wide pleiotropy analysis. We assessed the genetic correlation between six gastrointestinal disorders-including GERD, IBS, PUD, IBD, Crohn's disease, and ulcerative colitis-and VHD, employing methods like linkage disequilibrium score regression and pleiotropic analysis under a composite null hypothesis. Our results show significant genetic correlations, particularly with GERD (rg = 0.211), IBS (rg = 0.23), and PUD (rg = 0.21). Fifteen var

Sensory neuropathy in patients with Pompe disease: a case series in Iran.

BackgroundPompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.AimsThis study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.MethodsIn this case series study, nine patients with Pompe disease without complaints of neuropathy were evaluated. Small fiber neuropathy was assessed usi

Unravelling Osteoporosis: Key Genes and Potential Therapies.

Osteoporosis is a metabolic bone disease characterised by decreased bone mass and increased fracture risk, especially in aging women. Current treatments have limitations and side effects, prompting the need for novel therapeutic targets. Using Mendelian randomisation (MR) on the basis of GWAS data from the FinnGen consortium, we identified druggable genes associated with osteoporosis. Transcriptomic profiling, single-cell RNA sequencing (scRNA-seq) and immune infiltration analysis were employed to explore gene expression patterns and immune relevance. Gene set enrichment analysis and gene set

Strategies to overcome the main challenges of the use of CRISPR/Cas9 as a replacement for cancer therapy.

CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats-associated protein 9) shows the opportunity to treat a diverse array of untreated various genetic and complicated disorders. Therapeutic genome editing processes that target disease-causing genes or mutant genes have been greatly accelerated in recent years as a consequence of improvements in sequence-specific nuclease technology. However, the therapeutic promise of genome editing has yet to be explored entirely, many challenges persist that increase the risk of further mutations. Here, we highlighted the main challenges fa

Ход работы сессии 31st Европейский педиатрический конгресс по педиатрии: часть 2.

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Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021) : Virtual. 19-21 September 2021

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