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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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… Hence, a multi‐pronged approach—melding genotype data, deep phenotyping, and natural‐history analytics—enables truly personalized Gaucher care: low‐risk patients can be spared overtreatment, while high‐risk genotypes receive targeted surveillance and timely therapeutic adjustments. …

Update on Occupational Cancer for Better Cancer Prevention and Control.

Occupational cancer remains an ongoing and emerging issue in cancer prevention and control and is more easily preventable in practice than other causes. As of 2024, changes in various aspects, such as methods for estimating the burden of cancer, evidence on novel carcinogens and classification systems, modernization of working conditions, job characteristics, occupational exposure, and societal changes have played a significant role. Furthermore, advances in technology, including wearable devices, exposome, and biomedical technology, offer more precise methods for identifying the associations

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… The efficient diagnosis of occupational cancers while avoiding over investigation and overtreatment is crucial. Collaboration and communication with other medical specialists involved in cancer treatment, rehabilitation, and returning to work are essential. …

Clinicopathologic characteristics, metastasis-free survival, and skeletal-related events in 628 patients with skeletal metastases in a tertiary orthopedic and trauma center.

BACKGROUND: Skeletal-related events (SREs) due to bone metastases (BM) significantly impact the morbidity and mortality of cancer patients. The present study sought to investigate clinicopathological characteristics, metastasis-free survival (MFS), and SREs in patients referred to a tertiary orthopedic and trauma center. METHODS: Data were retrieved from electronic health records (n=628). Survival curves were estimated utilizing the Kaplan-Meier method. The Cox regression model was used to determine factors influencing MFS based on estimated hazard ratios (HRs). RESULTS: Breast (55.8%) and l

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… Bone metastasis-free survival To avoid under- or overtreatment of patients with BM and help set patient, family, and physician expectations, caregivers need accurate survival estimates. The present study indicated that MFS was different for primary cancer types. …

How we manage smoldering multiple myeloma.

Smoldering myeloma (SMM) is an asymptomatic stage characterized by bone marrow plasma cells infiltration between 10-60% in absence of myeloma-defining events and organ damage. Until the revision of criteria of MM to require treatment, two main prognostic models, not overlapping each other, were proposed and used differently in Europe and in US. Novel manageable drugs, like lenalidomide and monoclonal antibodies, with high efficacy and limited toxicity, improvement in imaging and prognostication, challenge physicians to offer early treatment to highrisk SMM. Taking advantage from the debates of

The 2024 revised clinical guidelines on the management of thyroid tumors by the Japan Association of Endocrine Surgery.

The Japan Association of Endocrine Surgery published the first edition of the "Clinical guidelines on the management of thyroid tumors" in 2010 and the revised edition in 2018. The guideline presented herein is the English translation of the revised third edition, issued in 2024. The aim is to enhance health outcomes for patients suffering from thyroid tumors by facilitating evidence-based shared decision-making between healthcare providers and patients, as well as standardizing the management of thyroid tumors. The focus is on adult patients with thyroid tumors, addressing clinically signific

Neoplastic Disorders and Cardiovascular Comorbidities in Geriatric Patients: A Simple Association?

Cardiovascular disease (CVD) and cancer frequently coexist in older patients, posing significant challenges in clinical management due to overlapping risk factors and treatment-related complications. This narrative review summarizes current knowledge on the epidemiology, shared pathophysiological mechanisms and clinical impact of neoplastic comorbidities in older adults with cardiovascular diseases. It highlights the increased mortality, morbidity and diminished quality of life resulting from the coexistence of these conditions. The review also discusses personalized management strategies, emp

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… This assessment helps predict treatment tolerance and enables risk stratification, thereby preventing under- or overtreatment [ 76 ]. Identifying high-risk patients before treatment initiation allows for early intervention and dose adjustment to prevent complications. …

The effect of social care nurses on health related quality of life in patients with advanced cancer: A non-randomized, multicenter, controlled trial.

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… Overtreatment and redundant aggressive therapies at the end of life have been discussed as well as to positive therapy expectations on the part of the patients [ 4 , 5 ]. Patients’ unexpressed needs are associated with higher psychosocial distress and decreased quality of life (QoL) [ 6 ]. …

Management of Long Bones Metastatic Disease: Concepts That We All Know but Not Always Remember.

Bones are the third most common site of metastatic disease. Treatment is rarely curative; rather, it seeks to control disease progression and palliate symptoms. Imaging evaluation of a patient with symptoms of metastatic bone disease should begin with plain X-rays. Further imaging consists of a combination of (PET)-CT scan and bone scintigraphy. We recommend performing a biopsy after imaging workup has been conducted. Metastatic bone disease is managed with a combination of systemic treatment, radiotherapy (RT), and surgery. External beam RT (EBRT) is used for pain control and postoperatively

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… Adequate quantification of the risk of fracture is paramount to choose the optimal patient for surgical treatment and avoid overtreatment. In this area, artificial intelligence algorithms that improve accuracy predicting the risk of fracture are currently under investigation. …

Classification and scoring systems for metastatic spine tumors: a literature review.

IntroductionAccurate evaluation of metastasis and life prognosis is essential for selecting a suitable therapeutic strategy for metastatic spine tumors owing to limitations in treatment options. For this purpose, various classification, evaluation, and scoring systems have been developed.MethodsClassification, evaluation, and scoring systems for metastatic spine tumors reported to date were identified by performing a literature search on PubMed. We reviewed the most cited classifications and scorings before 2009, and all classifications and scorings reported after 2010 from the search results.

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… These scoring systems have been used for predicting life expectancy and selection of treatments 65 ) , but they are also used to avoid overtreatment in patients with poor prognoses. …

The Continuum of Thyroid Disorders Related to Immune Checkpoint Inhibitors: Still Many Pending Queries.

BackgroundUntil more data are available to shed light on the thyroid disorders related to immune checkpoint inhibitors (ICPi) implemented for the treatment of hematological malignancies, the decision-making is guided by pertinent data derived mostly from solid tumors.MethodsThe present review provides a comprehensive and updated overview of the thyroid disorders related to ICPi, namely to inhibitors of cytotoxic T-lymphocyte antigen 4 (CTLA-4), programmed cell death (PD) 1 (PD-1), and the ligand of the latter (PD-L1).ResultsWith the increasing recognition of ir thyroid disorders, many outstand

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… This finding highlights the need for the individualization of decision-making to preclude the overtreatment of Graves’ disease. … The aim is to correct any clinically significant impairment of thyroid function, but clinicians need to rely on their clinical judgement to avoid either undertreatment or overtreatment. 9. …

Геномика определяет злонамеренную трансформацию в условиях Миеломы.

Множественной миеломе (ММ) последовательно предшествует моноклонная гаммопатия неопределённого значения (МГУС) и множественная миелома (ШМ). Хотя эти прекурсоры являются асимптоматическими, они не являются полностью доброкачественными и сопряжены с риском продвижения к MM на протяжении всей жизни. В отличие от других раковых заболеваний, определяемых патологией, злокачественная трансформация от MGUS или SMM до MM до сих пор основывалась на демонстрации клинического ущерба конечной организации, поскольку морфология и цитогенетика не могут надежно их отличить. В настоящем исследовании используют

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… For instance, some high-risk IMWG 2/20/20 patients may not progress for several years, and identification of these patients can prevent overtreatment in individuals without a clear clinical need or immediate risk of organ damage. …

From Sjögren syndrome to Sjögren disease: rethinking classification and diagnostic complexity.

Sjögren syndrome (SS), traditionally regarded as a sicca-predominant condition, is now recognized as a systemic autoimmune disease characterized by type I interferon activation, B-cell hyperactivity, and periepithelial lymphocytic infiltration. This conceptual shift has prompted changes in terminology, with "SS" increasingly replaced by "Sjögren disease (SjD)" and "secondary SS" by "associated SjD," reflecting the concept of polyautoimmunity and ensuring equal clinical standing. In this review, we trace the historical evolution of SS classification criteria and examine their limitations in rea

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… Inadequate diagnostic assessment may lead to overdiagnosis and overtreatment. Because SjD diagnosis requires a multidisciplinary approach, clinicians should refer complex cases to specialized institutions. …

Искусственный интеллект и машинное обучение в нейрогенной дисфункции нижних мочевых путей и травме спинного мозга: текущее состояние, новые технологии и этические перспективы.

Искусственный интеллект (АИ) и машинное обучение все чаще применяются во всех областях урологии, при этом особое значение придается нейрогенной дисфункции нижних мочевых путей (НЛУТД) у лиц с повреждениями спинного мозга (КВП). Кроме того, существуют особые перспективы в том, что касается лечения NLUTD — сложного, пожизненного состояния, затрагивающего людей с SCI, а также связанного с множественным склерозом, болезнью Паркинсона и другими неврологическими расстройствами. В этой статье содержится всеобъемлющий анализ нынешней и формирующейся роли МА в нейроурологии с уделением особого внимания

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… Predictive risk models for UUT deterioration enable proactive, individualized surveillance, reducing both the risk of renal damage and overtreatment. …

Проблемы, трудности и запоздалый диагноз множественной миеломы.

Фон: Множественная миелома (ММ) представляет собой разнородную плазменную порчу клеток с неконкретными симптомами и разнородностью болезней на клиническом и биологическом уровнях. Этот неконкретный набор симптомов, включая боль в костях, анемию, почечную недостаточность, гиперкальцемию и нейропатию, может ввести в заблуждение диагноз как хронические или доброкачественные заболевания, что приводит к задержкам в диагностике. Своевременное выявление имеет важнейшее значение для предотвращения повреждения органов и снижения заболеваемости. Методы: В настоящем обзоре мы представляем обзор последней

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… Moreover, the early detection of low-risk MGUS, particularly in younger individuals, may lead to overdiagnosis, increased patient anxiety, and unnecessary follow-up or overtreatment. …

Как изменяется первая терапия у пациентов с несколькими миеломами без трансплантации.

Результаты лечения пациентов с множественной миеломой улучшились в последние десятилетия благодаря новым представлениям о биологии болезни и внедрению новых лекарств и терапевтических подходов. Более половины пациентов с множественной миеломой не имеют права на трансплантацию, и в течение многих лет их лечение было затруднено из-за неоднородности этой группы пациентов и отсутствия вариантов лечения. В последнее время внимание было сосредоточено на концепции хрупкости и ее количественной оценке, с тем чтобы привести график и дозировку лечения в соответствие с требованиями физической пригодности

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… Currently available fitness assessment tools and scores In MM, overtreatment of frail patients and undertreatment of healthy elderly patients are both clinical challenges that can lead to lower survival and quality of life (QoL). 13 Consequently, it is critical to strike a balance between treatment …

From Time-Limited Therapy to Treatment-Free Observation: The Evolving Role of MRD in CLL Management.

The integration of measurable residual disease (MRD) into the management of chronic lymphocytic leukemia (CLL) has emerged as a major advance in risk stratification and trial design, particularly in the context of time-limited, targeted regimens. High-sensitivity MRD assessment, enabled by multicolor flow cytometry, allele-specific oligonucleotide PCR, and next-generation sequencing (NGS), provides a robust, quantifiable measure for depth of remission and long-term outcomes. Landmark trials-including CLL14, MURANO, CAPTIVATE, and GLOW-have consistently demonstrated that achieving undetectable

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… Moreover, such strategies may carry potential risks, including overtreatment, immunosuppression, toxicity, increased costs, and clonal selection, and therefore remain investigational [ 68 ]. …

Как готовить пациентов, получающих антирезортивную терапию, к извлечению зубов: обзор.

Бифосфонаты (БП) и Деносумаб (ДМБ) являются антирепрессивными агентами (АА), обычно используемыми для лечения остеопороза, множественной миеломы (8,0%), рака груди (3,3%), рака простаты (2,9 процента) и других магнелез (0,7 процента), метастаза кости и гиперкальцемии, вызванной раком. Однако эта терапия связана со значительным риском связанного с лекарствами остеонекроза челюсти (MRONJ), особенно после выведения зубов. Цель этого описательного обзора заключалась в обобщении текущих данных о мерах, направленных на снижение риска ДРОНЖ после извлечения зубов, и в критическом обсуждении достоверн

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… Such stratification allows clinicians to avoid overtreatment in low-risk patients while maintaining a more cautious approach in oncological or otherwise medically compromised individuals. Oral hygiene and local infection control appear to be fundamental elements of MRONJ prevention. …

Integrated genomic and clinical modeling for prognostic assessment of radiotherapy response in rectal neoplasms.

The aim of this study is to develop a prognostic model for evaluating radiotherapy response in patients diagnosed with rectal neoplasms by integrating genomic and clinical data. Publicly accessible datasets from The Cancer Genome Atlas and Gene Expression Omnibus were analyzed to identify differentially expressed genes associated with drug resistance and mitophagy. Functional enrichment analyses were conducted to investigate relevant biological pathways. A prognostic risk model was constructed using least absolute shrinkage and selection operator regression and validated via receiver operating

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… Patients classified as low-risk by the model exhibited higher radiotherapy response rates, suggesting that standard radiotherapy regimens may be sufficient for this subgroup, potentially minimizing overtreatment-related toxicity. …

Iceland screens, treats, or prevents multiple myeloma (iStopMM): a population-based screening study for monoclonal gammopathy of undetermined significance and randomized controlled trial of follow-up strategies.

Monoclonal gammopathy of undetermined significance (MGUS) precedes multiple myeloma (MM). Population-based screening for MGUS could identify candidates for early treatment in MM. Here we describe the Iceland Screens, Treats, or Prevents Multiple Myeloma study (iStopMM), the first population-based screening study for MGUS including a randomized trial of follow-up strategies. Icelandic residents born before 1976 were offered participation. Blood samples are collected alongside blood sampling in the Icelandic healthcare system. Participants with MGUS are randomized to three study arms. Arm 1 is n

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… Cancer screening is controversial due to the high number of individuals needed to be screened to improve clinical outcomes and the high level of false-positive results that may lead to overtreatment, a lower sense of wellbeing, and even psychiatric illness 43 . …

Оценка раннего вмешательства в клинические испытания миеломы: систематический обзор.

КОЛИЧЕСТВО: Множественная миелома (ШМ), асимптоматическая прекурсорка множественной миеломы (ММ), сопряжена с различным риском продвижения к ММ. Существует мало консенсуса в отношении эффективности или оптимального времени лечения в рамках SMM. Мы систематически анализировали ландшафт всех клинических испытаний в ШММ. Мы сравнили эффективность методов лечения, изученных в рамках SMM, с результатами этих режимов, когда они использовались в недавно диагностированных миеломах (NDMM), с тем чтобы определить, свидетельствуют ли данные о более глубоких реакциях в рамках SMM и NDMM.МЕТОДЫ: Все возмож