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Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey.

Management of Gaucher disease (GD) is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment. Sixteen face-to-face meetings with experts were held in order to discuss daily clinical practice and identify controversies regarding the management of GD. With this information, a questionnaire with 93 recommendations for different clinical scenarios was designed, and a Delphi survey among 86 physicians with experience in GD was conducted. Consensus was reached on 73 out of the 93 items. Recommendations on follow-up of adult an

Функциональное лекарство и долгосрочное выживание в множестве миеломы: как бросить вызов ранее невозможному.

Множественная миелома (ММ) — разнородная болезнь, выживающая от месяцев до десятилетий. Большинство пациентов по-прежнему не могут достичь цели «чистоты», однако это оказалось возможным с долгосрочной ремиссией и переходом к фазе плато (аналогично моноколональной гаммопатии неопределенного значения/холодящей миэломы). В настоящем обзоре two Для иллюстрации того, каким образом это возможно и что еще предстоит определить для обеспечения функциональной борьбы с заболеваниями в течение длительного периода времени, используются репрезентативные случаи. Был достигнут ряд изменений, таких, как соверш

Clinical Utility of Frailty Scoring in Elderly Acute Myeloid Leukemia Patients Treated With Venetoclax and Hypomethylating Agents.

Acute myeloid leukemia (AML) in elderly patients presents a major therapeutic challenge, as many are deemed unfit for intensive chemotherapy due to age, comorbidities, or frailty. Venetoclax in combination with hypomethylating agents (HMA) has emerged as a standard-of-care for this population, yet outcomes remain heterogeneous and predictive tools are limited. In this retrospective single-center study, we analyzed 52 treatment-naïve AML patients receiving venetoclax combined with either azacitidine (n = 33) or decitabine (n = 19) at the Hematology Department of Cosenza Hospital between August

Research on RNA modification in disease diagnosis and prognostic biomarkers: current status and challenges.

RNA modification, as a crucial post-transcriptional regulatory mechanism, plays a pivotal role in normal physiological processes and is closely associated with the onset and progression of various human diseases. Recent studies have highlighted significant alterations in the level of RNA modifications, including m6A, m6Am, m1A, m5C, m7G, ac4C, Ψ, and A-to-I editing, across multiple diseases. These findings suggest the potential of RNA modifications and their regulatory factors as biomarkers for early disease diagnosis and prognosis. This review provides an overview of statistical methods, mach

High CRP-albumin ratio predicts poor prognosis in transplant ineligible elderly patients with newly diagnosed acute myeloid leukemia.

Acute myeloid leukemia (AML) patients older than 65 years have a poor prognosis. Recently, CAR (C-reactive-protein/albumin ratio) has been actively reported as a prognostic index reflecting the nutritional and inflammatory status of elderly patients with solid tumors, but the usefulness of this index as a prognostic indicator in transplant-ineligible elderly AML patients has not been investigated. We studied genetic alterations and CARs in 188 newly diagnosed AML patients aged 65 years or older who were treated in a multicenter setting and had treated without HSCT. Both NCCN 2017 risk group, r

The Roles of EDA2R in Ageing and Disease.

Ageing is a complex biological process driven, in part, by inflammaging. Recent research identifies the ectodysplasin A2 receptor (EDA2R) as a key regulator of inflammaging and a novel biomarker of ageing, with its expression increasing with age across diverse tissues in humans and animal models. Elevated EDA2R gene expression is associated with accelerated ageing, cellular senescence, frailty, obesity, acne, radiation response and increased levels of inflammatory, renal, cardiac and vascular biomarkers. Similarly, elevated EDA2R protein levels, a critical component of the proteomic ageing clo

Chemotherapy-induced peripheral neuropathy: evidence from genome-wide association studies and replication within multiple myeloma patients.

BackgroundBased on the possible shared mechanisms of chemotherapy-induced peripheral neuropathy (CIPN) for different drugs, we aimed to aggregate results of all previously published genome-wide association studies (GWAS) on CIPN, and to replicate them within a cohort of multiple myeloma (MM) patients.MethodsFollowing a systematic literature search, data for CIPN associated single nucleotide polymorphisms (SNPs) with P-values- 5 were extracted; these associations were investigated within a cohort of 983 German MM patients treated with bortezomib, thalidomide or vincristine. Cases were subjects

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… However, the combined effects of the replicated loci as a genetic risk score needs to be further investigated in an independent population, and the current evidence is not enough to have an immediate impact on clinical practice. …

Multidimensional Predictors of Cancer-Related Fatigue Based on the Predisposing, Precipitating, and Perpetuating (3P) Model: A Systematic Review.

Cancer-related fatigue (CRF) is a widespread symptom with high prevalence in cancer patients, seriously affecting their quality of life. In the context of precision care, constructing machine learning-based prediction models for early screening and assessment of CRF is beneficial to this situation. To further understand the predictors of CRF for model construction, we conducted a comprehensive search in PubMed, Web of Science, Embase, and Scopus databases, combining CRF with predictor-related terms. A total of 27 papers met the inclusion criteria. We evaluated the above studies into three subg

Application and Challenges of Chimeric Antigen Receptor T Cell Therapy in Systemic Rheumatic Diseases and Autoimmune Disorders.

Chimeric antigen receptor T (CAR-T) cell therapy, originally developed for hematologic malignancies, has emerged as a transformative candidate for systemic rheumatic diseases and autoimmune disorders (AIDs). Its unique efficacy in refractory AIDs relies on depleting autoreactive B cells and driving antigen-naïve immune reconstitution, achieving durable drug-free remission in early-phase trials. Despite promising clinical and serological responses lasting 2-5 years without long-term immunosuppression, the field faces unmet needs: complex manufacturing, limited tissue penetration, antigen escape

MICAL1 promotes the proliferation in acute myeloid leukemia and is associated with clinical prognosis and immune infiltration.

Acute myeloid leukemia (AML) is one of the most common hematopoietic malignancies that has a poor prognosis and a high rate of relapse. Dysregulated metabolism plays an important role in AML progression. This study aimed to conduct a comprehensive analysis of MRGs using TCGA and GEO datasets and further explore the potential function of critical MRGs in AML progression. In this study, we identified 17 survival-related differentially expressed MRGs in AML using TCGA and GEO datasets. The 150 AML samples were divided into three molecular subtypes using 17 MRGs, and we found that three molecular

Association of genetic ancestry with outcomes and toxicity of idecabtagene vicleucel in patients with relapsed/refractory multiple myeloma.

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Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.

Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson's disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Pa

Совокупное и интерактивное воздействие тяжелых металлов на нейродегенеративные заболевания: сравнительный обзор болезни Альцгеймера, Паркинсона, амиотропического бокового склероза и множественного склероза.

Тяжелые металлы и металллоиды являются стойкими загрязнителями окружающей среды, которые накапливаются в центральной нервной системе и взаимодействуют с местными основными металлами, однако в большинстве нейротоксических исследований металлы по-прежнему рассматриваются как независимые агенты, а не как смешанные смеси. В настоящем обзоре систематически сопоставляются данные о совокупном и интерактивном воздействии смесей тяжелых металлов на четыре основных нейродегенеративных заболевания: болезнь Альцгеймера (AD), болезнь Паркинсона (PD), амиотропический боковой склероз (ALS) и множественный ск

Вариации HLA у инуитов и нейроиммунное заболевание.

Мировой риск аутоиммунных заболеваний, особенно множественного склероза (МС), варьируется в зависимости от населения. Одним из ключевых факторов является иммунная вариация, обусловленная генетическими вариациями. Человеческая антигенная система лейкоцитов (HLA) играет центральную роль в представлении антигенов, иммунном регулировании и взаимодействии между носителями и патогенами. Изменение генов HLA имеет существенные клинические последствия, влияющие на риск аутоиммунных и нейродегенеративных заболеваний. Например, HLA-DRB1*15:01 остается самым сильным и наиболее систематически повторяемым ф

Definitions, Biology, and Current Therapeutic Landscape of Myelodysplastic/Myeloproliferative Neoplasms.

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hematological disorders characterized by both proliferative and dysplastic features. According to the 2022 International Consensus Classification (ICC), MDS/MPN consists of clonal monocytosis of undetermined significance (CMUS), chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), MDS/MPN with SF3B1 mutation (MDS/MPN-T-SF3B1), MDS/MPN with ring sideroblasts and thrombocytosis not otherwise specified (MDS/MPN-RS-T-NOS), and MDS/MPN-NOS. These disorders exhibit a diverse range of genetic alterations involving

Global Panoramic analysis of clinical research in cell therapy: clinical trial landscape, marketed products, and regulatory trends.

IntroductionCell therapy is a vital field in modern medicine. This review assesses its global clinical development landscape, approved products, and regional regulatory characteristics.MethodsA comprehensive search and analysis of global clinical trial databases (e.g., https://clinicaltrials.gov/ClinicalTrials.gov), regulatory agency announcements, and relevant literature up to October 2025 was conducted. Key data points regarding trial numbers, phases, therapy types, and approved products were extracted and analyzed descriptively by region.ResultsA cumulative total of 10,373 cell therapy clin

Infections Caused by Acinetobacter baumannii in Recipients of Hematopoietic Stem Cell Transplantation.

Acinetobacter baumannii (A. baumannii) is a Gram-negative, strictly aerobic, non-fermentative coccobacillus, which is widely distributed in nature. Recently, it has emerged as a major cause of health care-associated infections (HCAIs) in addition to its capacity to cause community-acquired infections. Risk factors for A. baumannii infections and bacteremia in recipients of hematopoietic stem cell transplantation include: severe underlying illness such as hematological malignancy, prolonged use of broad-spectrum antibiotics, invasive instrumentation such as central venous catheters or endotrach

Refining risk prediction in pediatric acute lymphoblastic leukemia through DNA methylation profiling.

Acute lymphoblastic leukemia (ALL) is the most prevalent cancer in children, and despite considerable progress in treatment outcomes, relapses still pose significant risks of mortality and long-term complications. To address this challenge, we employed a supervised machine learning technique, specifically random survival forests, to predict the risk of relapse and mortality using array-based DNA methylation data from a cohort of 763 pediatric ALL patients treated in Nordic countries. The relapse risk predictor (RRP) was constructed based on 16 CpG sites, demonstrating c-indexes of 0.667 and 0.

An unusual presentation of metastatic prostate cancer in a 44-year-old man: A case report and review of the literature.

UNLABELLED: Prostate cancer is one of the two most common non-cutaneous cancers in men. Its presentation might be with unusual symptoms and cause the wrong initial diagnosis. This case report discusses a rare neurologic manifestation of advanced metastatic cancer in a low-risk man. He had been receiving treatment for multiple sclerosis incorrectly due to unusual manifestations such as claudication and pelvic, leg, and shoulder pain. The patient underwent a whole-body bone scan and then a transrectal ultrasound-guided biopsy, which confirmed metastatic prostate cancer with a Gleason score betwe

Mitophagy related gene signature for prognosis and therapeutic evaluation in KIRC.

This study conducted a comprehensive investigation of the prognostic significance and immunological features associated with mitophagy-related gene signatures in clear cell renal cell carcinoma (KIRC). Our primary aim was to establish an optimized predictive model for precise prognosis stratification and treatment response prediction in KIRC patients. Through LASSO Cox regression analysis, we systematically identified mitophagy-related genes (MRGs) and implemented them to develop a prognostic risk stratification model. The model's reliability was rigorously validated using both internal cohort