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Safety and Efficacy of Givinostat for Patients with Muscular Dystrophy: A Systematic Review.

INTRODUCTION: Muscular dystrophy (MD) refers to a group of genetic disorders leading to progressive weakness and degeneration of skeletal muscle. Among them, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common types. Histone deacetylase inhibitors (i.e., givinostat) is a recently approved therapy for DMD. In this systematic review, we aimed to evaluate givinostat in MD patients regarding safety and efficacy. METHODS: A systematic review was performed according to the PRISMA guidelines by searching through Medline, Embase, Cochrane Library, and Web of Scie

Application of High Throughput Technologies in the Development of Acute Myeloid Leukemia Therapy: Challenges and Progress.

Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by extensive heterogeneity in genetics, response to therapy and long-term outcomes, making it a prototype example of development for personalized medicine. Given the accessibility to hematologic malignancy patient samples and recent advances in high-throughput technologies, large amounts of biological data that are clinically relevant for diagnosis, risk stratification and targeted drug development have been generated. Recent studies highlight the potential of implementing genomic-based and phenotypic-based screen

Life's essential 8 and specific cancer risk and mortality in men and women: a population-based cohort analysis of 332,417 United Kingdom participants.

BackgroundThis study aimed to explore the association between Life's Essential 8 (LE8) and the risk of cancer occurrence and cancer-associated mortality across 24 cancer types. The cardiovascular health (CVH) score is constructed based on the overall LE8 score, providing a more direct measure of CVH and its potential relationship with cancer risk.MethodsThis cohort enrolled participants from a prospective cohort of the United Kingdom Biobank, including individuals aged 37-73 years, with 332,417 cancer-free participants. CVH scores were assessed using the LE8 metrics. The primary outcome of thi

Irish Endocrine Society 44th Annual Meeting.

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The phenotypic and genetic association between endometriosis and immunological diseases.

STUDY QUESTION: Is there an increased risk of immunological diseases among endometriosis patients, and does a shared genetic basis contribute to this risk? SUMMARY ANSWER: Endometriosis patients show a significantly increased risk of autoimmune, autoinflammatory, and mixed-pattern diseases, including rheumatoid arthritis, multiple sclerosis, coeliac disease, osteoarthritis, and psoriasis, with genetic correlations between endometriosis and osteoarthritis, rheumatoid arthritis, and multiple sclerosis, and a potential causal link to rheumatoid arthritis. WHAT IS KNOWN ALREADY: The epidemiologi

Abstracts from the ISSAID 2021 Periodic Congress : Virtual. May - Dec 2021

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Активное воспроизведение ассоциаций в рамках исследовательской программы " Все мы " с использованием данных по ЭПЧ, предоставляемых пациентами и поставщиками.

Программа исследований < < Все мы > > объединяет общенациональную группу, располагающую электронными медицинскими данными (ЭПЧ) через посредство two :: дополнительные каналы: организация, предоставляющая услуги в области здравоохранения (ОЗЗП), при содействии со стороны ЕПЧ и при содействии пациентов, внесла вклад через порталные связи с пациентами. Ценность этих сравнительных исследований two Источники данных не подвергались систематической оценке. В этой связи мы сравнили PME и HPO EHR в том, что касается распространенности заболеваний, ассоциаций фенотип-фенотипов и копирования

FundusNet: Глубокоучебный подход к быстрому диагностике нейродегенеративных и глазных заболеваний с использованием образов Фонда.

Раннее обнаружение нейродегенеративных заболеваний имеет решающее значение для эффективного клинического лечения. Однако нынешние методы диагностики являются дорогостоящими и требуют много времени. В этом исследовании мы представляем " FundusNet " - модель глубокого обучения, разработанную на основе снимков фонда, для быстрой и эффективной с точки зрения затрат диагностики нейродегенеративных заболеваний. FundusNet добилась высоких показателей в области прогнозирования возраста (MAE 2,55 года), гендерной классификации (AUC 0,98) и нейродегенеративной диагностики заболеваний - болезнь

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… Additionally, the model’s strong performance in predicting genetic risk scores underscores fundus images’ potential for diagnosing diseases as larger datasets become available. …

Gaucher Disease in Bone: From Pathophysiology to Practice.

Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent aspects of GD and a major cause of pain, disability, and reduced quality of life. Uniform recommendations for contemporary evaluation and management are needed. To develop practical clinical recommendations, an international group of experienced physicians conducted a comprehensive review of 20 years' of the literature, defining terms according to pathophysiological understanding and pointing out best practice and

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease.

BackgroundIt is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enabling us to study predictors of the reported outcomes.MethodThe PROM was sent via a mobile phone survey to 405 adult patients with GD1. Demographics, clinical data, and treatment status were extracted from clinic charts. Age, sex, severity score index (SSI) at presentation and trea

Biomarkers in Multiple Sclerosis: An Up-to-Date Overview

During the last decades, the effort of establishing satisfactory biomarkers for multiple sclerosis has been proven to be very difficult, due to the clinical and pathophysiological complexities of the disease. Recent knowledge acquired in the domains of genomics-immunogenetics and neuroimmunology, as well as the evolution in neuroimaging, has provided a whole new list of biomarkers. This variety, though, leads inevitably to confusion in the effort of decision making concerning strategic and individualized therapeutics. In this paper, our primary goal is to provide the reader with a list of the

Thrombotic risk in hepatitis C: Interplay between hepatic dysfunction, viral-driven inflammation, and cardiovascular consequences.

Hepatitis C virus (HCV) infection, traditionally regarded as a hepatotropic disease, is increasingly recognized as a systemic condition with significant thrombotic implications. Chronic HCV induces a persistent proinflammatory and prothrombotic state that substantially elevates the risk of both venous and arterial events. Mechanistically, HCV drives endothelial dysfunction, enhances platelet activation, disrupts coagulation and fibrinolytic balance, and promotes immune-mediated vascular injury through cryoglobulinemia and chronic systemic inflammation. Clinical manifestations range from portal

Artificial inteligence and datasets for leukemia diagnosis: A scoping review of machine lerning and deep learning approaches.

Leukemia is the cancerous disease of the blood and the bone marrow that causes excessive proliferation of abnormal white blood cells, if detected too late, it can lead to potentially fatal consequences. Peripheral blood smear examinations and bone marrow biopsy are example of conventional diagnostic techniques that are invasive, time-consuming and subject to human variability. Recent advances in artificial intelligence (AI) particularly in the areas of Machine Learning (ML) and Deep Learning (DL)offer encouraging answers by making it possible to detect and classify leukemia using automated, ef

Inhibition of EIF2α Dephosphorylation Decreases Cell Viability and Synergizes with Standard-of-Care Chemotherapeutics in Head and Neck Squamous Cell Carcinoma.

Drug resistance is a common cause of therapy failure in head and neck squamous cell carcinoma (HNSCC). One approach to tackling it is by targeting fundamental cellular processes, such as translation. The eukaryotic translation initiation factor 2α (EIF2α) is a key player in canonical translation initiation and integrates diverse stress signals; when phosphorylated, it curbs global protein synthesis. This study evaluates EIF2α expression and phosphorylation in HNSCC. A small-molecule inhibitor of EIF2α dephosphorylation, salubrinal, was tested in vitro, followed by viability assays, flow cytome

Pediatric obesity and the risk of multiple sclerosis: a nationwide prospective cohort study.

BACKGROUND: Emerging evidence implies a link between high pediatric body mass index (BMI) and an increased risk of multiple sclerosis (MS). However, previous research suggests this association is only present for adolescent obesity and not childhood obesity. The present study aimed to assess the association between pediatric obesity and risk of developing MS, and to investigate if degree of obesity and age at obesity treatment initiation affects the risk. In a subgroup, response to obesity treatment on MS risk was assessed. METHODS: In this cohort study, patients aged 2-19 years from the Swed

Decoding Immunodeficiencies with Artificial Intelligence: A New Era of Precision Medicine.

Primary and secondary immunodeficiencies comprise a wide array of illnesses marked by immune system abnormalities, resulting in heightened vulnerability to infections, autoimmunity, and cancers. Notwithstanding progress in diagnostic instruments and an enhanced comprehension of the underlying pathophysiology, delayed diagnosis and underreporting persist as considerable obstacles. The implementation of artificial intelligence into clinical practice has surfaced as a viable method to enhance early detection, risk assessment, and management of immunodeficiencies. Recent advancements illustrate ho

Алгоритмы машинного обучения для виртуального раннего обнаружения и выявления нейродегенеративных и нейрокогнитивных расстройств: систематический обзор.

Происхождение и аналоговые расстройства (например, болезнь Альцгеймера, болезнь Паркинсона) приводят к нейронной потере; нейрокогнитивные расстройства (например, бред, слабоумие) свидетельствуют о когнитивном упадке. Раннее обнаружение имеет решающее значение для эффективного управления. Машинное обучение помогает в более точном выявлении заболеваний, потенциально преобразуя медицинское обслуживание. В рамках этого всеобъемлющего систематического обзора обсуждается вопрос о том, каким образом машинное обучение (ML) может способствовать раннему выявлению этих расстройств, превосходя при этом тр

Romosuzumab used to treat a 29-year-old patient with anorexia nervosa related osteoporosis - A case report.

Osteoporosis and decreased bone density is a frequent complication of anorexia nervosa (AN). As of yet, there have been no studies of accomplished treatment of AN-related osteoporosis with romosuzumab, a monoclonal antibody to sclerostin. We report the first case of a premenopausal, 29-year old patient in Switzerland with decreased bone density and osteoporotic fractures due to anorexia nervosa, who completed the treatment with romosuzumab. There was a significant increase in bone mineral density (BMD) after 12 months of therapy. No serious side effects were reported. To date, only bisphosphon

Dynamic Prediction of Survival Outcomes in Multiple Myeloma.

Background: Multiple myeloma (MM) remains an incurable plasma cell malignancy characterized by marked clinical heterogeneity. Existing prognostic frameworks, including the International Staging System (ISS) and FISH-defined cytogenetic risk, are anchored at diagnosis and do not capture the evolutionary dynamics of disease or treatment response, leaving an unmet need for risk models that retain prognostic validity longitudinally. Methods: Using transcriptomic data from 762 CD138-selected MM plasma cells from newly diagnosed patient samples in the MMRF CoMMpass study (NCT01454297), we computed s

Osteoporosis Diagnosis and Management: A Review from an Orthopedic Perspective.

Osteoporosis is a systemic skeletal disorder characterized by low bone density and microarchitectural deterioration, both of which lead to increased risk of fracture, disability, institutionalization, and mortality. Dual-energy X-ray absorptiometry (DEXA) remains the gold standard for evaluating bone mineral density and establishing diagnostic thresholds. However, accurate interpretation requires more than the application of numerical cut-offs. Interpretation requires careful evaluation of graphical bands, artifact recognition, awareness of site discordance, and application of least significan