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Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.

Natural-history datasets have become pivotal for drug development and for shaping clinical-practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment-outcome, and regulatory advances into a practical framework for capturing and interpreting natural-history data, using Gaucher disease (GD) as a paradigm. We reviewed more than 300 peer-reviewed articles (2005-2025), FDA guidance documents, and output from large real-world registries. Part

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… Indeed, the same founder population is known to harbor variants associated with other genetic conditions such as Factor XI deficiency, Familial Mediterranean Fever (FMF), and Parkinson's disease, each potentially modifying the phenotypic expression and emerging clinical features of Gaucher disease within …

Multiple myeloma cancer stem cells.

Multiple myeloma (MM) remains incurable despite much progress that has been made in the treatment of the disease. MM cancer stem cell (MMSC), a rare subpopulation of MM cells with the capacity for self-renewal and drug resistance, is considered to lead to disease relapse. Several markers such as side population (SP) and ALDH1+ have been used to identify MMSCs. However, ideally and more precisely, the identification of the MMSCs should rely on MMSCs phenotype. Unfortunately the MMSC phenotype has not been properly defined yet. Drug resistance is the most important property of MMSCs and contribu

Role of Proteins in Oncology: Advances in Cancer Diagnosis, Prognosis, and Targeted Therapy-A Narrative Review.

Modern oncology increasingly relies on the role of proteins as key components in cancer diagnosis, prognosis, and targeted therapy. This review examines advancements in protein biomarkers across several cancer types, including breast cancer, lung cancer, ovarian cancer, and hepatocellular carcinoma. These biomarkers have proven critical for early detection, treatment response monitoring, and tailoring personalized therapeutic strategies. The article highlights the utility of targeted therapies, such as tyrosine kinase inhibitors and monoclonal antibodies, in improving treatment efficacy while

Модели прогнозирования риска венозного тромбоэмболизма у пациентов с множественной миеломой: систематический обзор и метаанализ.

СОСТОЯНИЕ: Модели прогнозирования рисков помогают выявлять многих пациентов с миэломой (ММ), подверженных высокому риску венозного тромбоэмболизма (ВТЕ), и направлять клинические решения. Однако их применимость и точность остаются неясными. Цель этого исследования заключается в систематическом пересмотре существующих моделей риска VTE у пациентов с ОМ. Мы систематически искали PubMed, Embase, Cochrane Bibrary и Web of Science для изучения моделей прогнозирования рисков VTE у пациентов с MM до марта 31, 2026. Two Следователи независимо проверяли литературу, извлекали данные и оценивали риск пре

Attitudes, expectations, and lived experiences of cancer patients receiving dendritic cell vaccine therapy in Japan.

ObjectiveImmunotherapeutic approaches to cancer, such as dendritic cell vaccine therapy, promise to improve survival rate but may present unique challenges to patients. However, there is no research on the lived experiences of cancer patients receiving dendritic cell vaccine therapy. The aim of this study was to explore the attitudes, expectations, and experiences of cancer patients receiving dendritic cell vaccine therapy in Japan.MethodsThis was an exploratory qualitative study. A descriptive phenomenological approach was used to investigate the experiences of eight advanced-stage cancer pat

Унификация одиссеи: искусственный интеллект для диагностирования и лечения редких заболеваний.

Подытожить текущие проблемы в диагностике и лечении редких заболеваний (РД), осветить последние достижения в области искусственного интеллекта (АИ) для РД и предложить модель будущего состояния лечения пациентов РД. Многодисциплинарный экспертный обзор с кратким изложением современных практических задач и мер по ограничению ставок в области РД-клиентов с учетом ключевых клинических и исследовательских соображений в отношении нормативных и экономических ограничений. 10,000 известные РД оказывают коллективное воздействие 1 В 10 Американцы, в целом 30 million Люди. Ежегодно на РД приходится свыше

Artificial Neural Network Prediction of Mortality in Cancer Patients Presenting for Radiation Therapy at a Multisite Institution.

IntroductionFor many decades, the management of cancer has utilized radiation therapy, which continues to evolve with technology to improve patient outcomes. However, despite the standardization of treatment plans and the establishment of best clinical practices based on prospective, randomized trials and adherence to National Comprehensive Cancer Network (NCCN) guidelines, the outcomes from radiation therapy are highly variable and dependent on a number of factors, including patient demographics, tumor characteristics/histology, and treatment parameters. In this study, we attempt to use avail

Availability, price and affordability of anticancer medicines in Jiangsu Province, China: a cross-sectional survey study.

BackgroundTo evaluate anticancer medicines' availability, price and affordability in nine prefecture-level cities, Jiangsu Province.MethodsBased on the standard methods recommended by the World Health Organization (WHO) and the Health Action International (HAI), a cross-sectional survey was performed to collect information about 24 essential anticancer medicines (EAMs) and 17 innovative anticancer medicines (IAMs) in hospitals and 45 community pharmacies in Jiangsu Province from July to November 2021.ResultsIn general, the availability of EAMs during the study period was higher than that of IA

The Role of Drug Repurposing in the Development of Novel Antimicrobial Drugs: Non-Antibiotic Pharmacological Agents as Quorum Sensing-Inhibitors.

Background: The emergence of multidrug-resistant organisms (MDROs) is a global public health issue, severely hindering clinicians in administering appropriate antimicrobial therapy. Drug repurposing is a drug development strategy, during which new pharmacological applications are identified for already approved drugs. From the viewpoint of the development of virulence inhibitors, inhibition of quorum sensing (QS) is a promising route because various important features in bacterial physiology and virulence are mediated by QS-dependent gene expression. Methods: Forty-five pharmacological agents,

Exosomal AFAP1-AS1 binds to microRNA-15a-5p to promote the proliferation, migration, and invasion of ectopic endometrial stromal cells in endometriosis.

BackgroundEndometriosis (EMS) remains a major challenge to reproductive health due to multifactorial etiology, disease heterogeneity, and the lack of appropriate diagnostic markers and treatment. Eexosome (Exo) has become a major factor in progression of a variety of diseases. However, the mechanisms directing their role in the pathophysiology of EMS are ill-defined. Here, we aimed to investigate the clinical implications of actin filament associated protein 1-Antisense RNA 1 (AFAP1-AS1) in EMS.MethodsBioinformatics analysis was used to predict the expression and interaction of AFAP1-AS1, miR-

Mushroom Polysaccharide-Assisted Anticarcinogenic Mycotherapy: Reviewing Its Clinical Trials.

Of the biologically active components, polysaccharides play a crucial role of high medical and pharmaceutical significance. Mushrooms have existed for a long time, dating back to the time of the Ancient Egypt and continue to be well explored globally and experimented with in research as well as in national and international cuisines. Mushroom polysaccharides have slowly become valuable sources of nutraceuticals which have been able to treat various diseases and disorders in humans. The application of mushroom polysaccharides for anticancer mycotherapy is what is being reviewed herein. The wide

Clinical Applications and Future Directions of Minimal Residual Disease Testing in Multiple Myeloma.

In the last years, the life expectancy of multiple myeloma (MM) patients has substantially improved thanks to the availability of many new drugs. Our ability to induce deep responses has improved as well, and the treatment goal in patients tolerating treatment moved from the delay of progression to the induction of the deepest possible response. As a result of these advances, a great scientific effort has been made to redefine response monitoring, resulting in the development and validation of high-sensitivity techniques to detect minimal residual disease (MRD). In 2016, the International Myel

" Nucleolus in Human Beasons: Ribosome Biogenesis " , " Nucleolar Survey " и " Terrapeutic Opportunities " .

Nucleolus превратился в динамичную и многофункциональную субядерную органилию, интегрирующую рибосомный биогенез с клеточным ростом и сигнализацией стресса. Регулирование нуклеолярной функции все чаще признается в качестве главного движителя человеческих заболеваний, связывающего изменённое рибосомное производство и нуклеолярное наблюдение с раком, рибосомопатиями, синдромами преждевременного старения, нейродегенерацией и иммунными расстройствами. В этом обзоре мы интегрируем структурные, молекулярные и болезнетворные перспективы нуклеолярной биологии для определения того, как рипосомный биоге

Osteoclast Activation and Inflammatory Bone Diseases: Focusing on Receptors in Osteoclasts.

Bone homeostasis depends on the balance between osteoblast-mediated bone formation and osteoclast-mediated bone resorption. An increasing number of studies have revealed that under inflammatory conditions, osteoclast overactivation is responsible for bone loss in relevant bone diseases. Multiple signaling pathways such as receptor activator of nuclear factor-kappa B ligand (RANKL) signaling are involved in osteoclast activation. These signaling pathways rely on various receptors expressed on the surface of osteoclast progenitor cells (OPCs) or osteoclasts, which are activated by their correspo

Development and validation of a new risk assessment model for immunomodulatory drug-associated venous thrombosis among Chinese patients with multiple myeloma.

BackgroundIndividuals with multiple myeloma (MM) receiving immunomodulatory drugs (IMiDs) are at risk of developing venous thromboembolism (VTE), a serious complication. There is no established clinical model for predicting VTE in the Chinese population. We develop a new risk assessment model (RAM) for IMiD-associated VTE in Chinese MM patients.MethodsWe retrospectively selected 1334 consecutive MM patients receiving IMiDs from 16 medical centers in China and classified them randomly into the derivation and validation cohorts. A multivariate Cox regression model was used for analysis.ResultsTh

Bortezomib-induced gastrointestinal dysfunction, peripheral neuropathy and neuroimmune signalling are influenced by the gut microbiota in mice.

BACKGROUND: Peripheral neuropathy and gastrointestinal dysfunction are frequent, debilitating side effects of the neurotoxic myeloma drug bortezomib that reduce quality of life and adherence to optimal therapy. Therapeutic strategies to manage these complications are limited. Here, we have developed a mouse model of bortezomib side effects to investigate the role of the gut microbiota in their development. METHODS: C57BL/6 specific pathogen-free (SPF), germ-free (GF) and ex-GF mice (colonised with healthy gut microbiota via faecal microbiota transplantation [FMT]) were treated with bortezomib

Advances in the research on myokine-driven regulation of bone metabolism.

The traditional view posits that bones and muscles interact primarily through mechanical coupling. However, recent studies have revealed that myokines, proteins secreted by skeletal muscle cells, play a crucial role in the regulation of bone metabolism. Myokines are widely involved in bone metabolism, influencing bone resorption and formation by interacting with factors related to bone cell secretion or influencing bone metabolic pathways. Here, we review the research progress on the myokine regulation of bone metabolism, discuss the mechanism of myokine regulation of bone metabolism, explore

New agents in the Treatment of Myeloma Bone Disease.

Patients with multiple myeloma develop a devastating bone disease driven by the uncoupling of bone remodelling, excess osteoclastic bone resorption and diminished osteoblastic bone formation. The bone phenotype is typified by focal osteolytic lesions leading to pathological fractures, hypercalcaemia and other catastrophic bone events such as spinal cord compression. This causes bone pain, impaired functional status, decreased quality of life and increased mortality. Early in the disease, malignant plasma cells occupy a niche environment that encompasses their interaction with other key cellula

m5C RNA methylation in cancer: from biological mechanism to clinical perspectives.

Cancer remains a significant global health threat, characterized by high morbidity and mortality rates. Despite advancements, numerous challenges persist in cancer treatment, underscoring the urgent need for novel therapeutic strategies. As a burgeoning area of cancer research, increasing evidence highlights the critical role of 5-methylcytosine (m5C) methylation in tumorigenesis, progression, and clinical application. In this review, we systematically review the biological mechanism and clinical translational potential of m5C RNA methylation in cancer and analyze in detail the dynamic interac

Neuropsychiatric Adverse Events with Monoclonal Antibodies Approved for Multiple Myeloma: An Analysis from the FDA Adverse Event Reporting System.

Background/Objectives: Monoclonal antibodies (mAbs) have revolutionized multiple myeloma (MM) treatment. However, post-marketing data on their neuropsychiatric safety are limited. This study aimed to evaluate neuropsychiatric adverse events (AEs) related to mAbs used for MM through a retrospective pharmacovigilance analysis using the Food and Drug Administration (FDA) Adverse Events Reporting System (FAERS) database. Methods: Individual case safety reports (ICSRs) from 2015 to 2023 with at least one neuropsychiatric AE and one of the MM-approved mAbs as the suspected drug (i.e., daratumumab, e