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Inflammation in Cardiomyopathies: Cellular Mechanisms Across Cardiac Phenotype.

Cardiomyopathies are traditionally classified by structural and genetic phenotypes, but emerging evidence highlights chronic myocardial inflammation as a pivotal driver of disease progression across different etiologies. This review synthesizes the current literature on the cellular and molecular inflammatory mechanisms underlying hypertrophic cardiomyopathy, Anderson-Fabry disease, cardiac amyloidosis, arrhythmogenic cardiomyopathy, and dilated cardiomyopathy. Across these distinct conditions, endogenous triggers such as metabolic substrates, misfolded amyloid fibrils, mechanical stress, or v

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… Therapeutically, enzyme replacement therapy is most effective when initiated before extensive fibrosis, suggesting that early inflammatory activity represents a clinically relevant window for intervention [ 24 , 25 ]. … Fabry Cardiomyopathy: Myocardial Fibrosis, Inflammation, and Down-Regulation of Mannose-6-Phosphate Receptors Cause Low Accessibility to Enzyme Replacement Therapy J. Am. Heart Assoc. 2025 14 e036815 39921501 10.1161/JAHA.124.036815 PMC12074712 24. Azevedo O. Cordeiro F. Gago M.F. …

Food and Drug Administration (FDA) Approvals of Biological Drugs in 2023.

An increase in total drug (small molecules and biologics) approvals by the Food and Drug Administration (FDA) was seen in 2023 compared with the previous year. Cancer remained the disease most targeted by monoclonal antibodies (mAbs), followed by autoimmune conditions. Our data reveal the prevalence of approvals for biologics even during years when the total number of authorizations was low, such as in 2022. Over half the drugs that received the green light in 2023 benefited from expedited programs, as the incidence of many diseases increased. In addition, over half of the biologics approved r

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… The disease continues to progress in both children and adults despite undergoing enzyme replacement therapy (ERT). … Food and Drug Administration FDA Approves First Enzyme Replacement Therapy for Rare Alpha-Mannosidosis. [(accessed on 8 January 2024)]; Available online: https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-enzyme-replacement-therapy-rare-alpha-mannosidosis . 68. …

Hypophosphatasia: Clinical Clues and Management Considerations.

This case report identifies typical manifestations of a patient with hypophosphatasia, a rare genetic condition in which mutations in tissue-non-specific alkaline phosphatase (TNSALP) enzymes cause low levels of alkaline phosphatase and defective bone mineralization. It explores common diagnostic clues from the history and laboratory evaluation, which can help clinicians identify the disorder. This case introduces a 49-year-old patient with a long history of fractures and dental abnormalities who was referred to endocrinology for evaluation of osteopenia. Further review of her laboratory data

Понимание и решение проблемы сопротивления иммуномодуляционным соединениям IMID в множестве миеломы.

Лекарственные средства иммуномодулирования (ИМИД), включая линалидомид и помалидомид в сочетании с протеаозными ингибиторами, дексаметазоном и антиCD38 моноклональными антителами, играют центральную роль в лечении множественной миеломы (ММ) на новых диагностированных и рецидивированных этапах. Эти методы лечения значительно улучшили результаты лечения пациентов во всем мире, в результате чего IMID стали одной из опор MM-терапии. В настоящее время разрабатывается новое поколение более мощных соединений, называемых лигами-модуляторами цереблиона Е3 (CELMODs), которые могут заменить старые IMID.

Регрессия задушенной миэломы с лечением болезни Гаучера.

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… He was started on enzyme replacement therapy (ERT) with imiglucerase 60 units/kg every 2 weeks and had a good response as evidenced by improved GD1 biomarkers, glucosylsphingosine (lyso-GL1), and chitotriosidase, ( Figure 1 A-B) along with reduced spleen volume. … Enzyme replacement therapy leading to improvement in myeloma indices in a patient with concomitant Gaucher disease. Intern Med J. 2022;52(5):872–875. doi: 10.1111/imj.15781. 8. Ramos JM, Hough AJ. Plasma cell myeloma in a patient with Gaucher disease. …

Immunotherapy-Associated Pancreatic Adverse Events: Current Understanding of Their Mechanism, Diagnosis, and Management.

Immune checkpoint inhibitors (ICIs) such as anti-programmed death-1 (PD-1) and its ligand PD-L1 and anti-cytotoxic T-lymphocyte antigen 4 (CTLA-4) monoclonal antibodies, are involved in T cell-mediated immune response augmentation and promote anti-tumor immunity. Cancer patients treated with combination of immunotherapy, chemotherapy, radiotherapy, and targeted therapy exhibit superior clinical outcomes and tolerance compared with patients treated with monotherapies. However, immutherapy is associated with several concomitant immune-related adverse events (irAEs). For instance, IrAEs interfere

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… replacement therapy. … Therefore, he was subjected to pancreatic enzyme replacement therapy (PERT), and his symptoms were progressively alleviated within 7–10 days ( 67 ). …

Gaucher: A Systematic Review on Oral and Radiological Aspects.

Background and Objectives: Gaucher disease (GD) is a lysosomal storage disorder with the genetic autosomal recessive transmission. Bone involvement is a prevalent finding in Gaucher disease. It causes deformity and limits daily activities and the quality of life. In 75% of patients, there is bone involvement. This review aims to evaluate the principal findings in the jaw by a Cone-beam computed tomography (CBTC) and X-ray orthopantomography; Materials and Methods: PubMed, Web of Science, Lilacs and Scopus were systematically searched until 31 December 2022. In addition, a manual search was per

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… There is no cure for Gaucher’s disease; in 1991, intravenous infusions of enzyme replacement therapy (ERT) were approved. However, it only treats symptomatic episodes, while asymptomatic episodes are untreated. … Abbreviations GD | Gaucher disease CNS | Central nervous system ERT | Enzyme replacement therapy PECO | Patients, Exposure, Comparison, Outcome MeSH | Medical subjects headings PRISMA | Preferred Reporting Items for Systematic Reviews and Meta-Analyses GI | Gingival index DMFT | Decayed, missing and …

Sphingolipid metabolism and hematologic disorders: current understanding and future directions.

Sphingolipids are not only key structural components of cell membranes but also serve as important signaling molecules, and their metabolic homeostasis is essential for the maintenance of cellular functions. In recent years, with the advancement of technologies such as metabolomics, studies have revealed that sphingolipid metabolic abnormalities are extensively involved in the occurrence and development of various hematological disorders, including immune thrombocytopenia, myeloproliferative neoplasms, graft-versus-host disease, hereditary hematological diseases, and hematologic malignancies.

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… The treatment strategies for Gaucher disease focus on correcting lipid metabolism disorders, with primary approaches including Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT). … replacement therapy or substrate reduction therapy. …

Haematological Diseases in the Tropics

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Medicinal chemistry perspectives on anticancer drug design based on clinical applications (2015-2025).

Cancer therapy has undergone a remarkable evolution over the past few decades, driven largely by innovations in medicinal chemistry. This review explores the pivotal role of medicinal chemistry in designing, optimizing, and classifying anticancer agents, from traditional cytotoxics to modern targeted therapies, immunotherapies, and radiotheranostics. The article categorizes FDA-approved anticancer drugs (2015-2025), evaluates their mechanisms of action, structural features, and structure-activity relationships (SAR), and highlights both success stories and challenges in clinical translation. A

Biological Evaluation of Naproxen-Dehydrodipeptide Conjugates with Self-Hydrogelation Capacity as Dual LOX/COX Inhibitors.

The use of peptide-drug conjugates is emerging as a powerful strategy for targeted drug delivery. Previously, we have found that peptides conjugated to a non-steroidal anti-inflammatory drug (NSAID), more specifically naproxen-dehydrodipeptide conjugates, readily form nanostructured fibrilar supramolecular hydrogels. These hydrogels were revealed as efficacious nano-carriers for drug delivery applications. Moreover, the incorporation of superparamagnetic iron oxide nanoparticles (SPIONs) rendered the hydrogels responsive to external magnetic fields, undergoing gel-to-solution phase transition

Метаболическая маркировка кинетики головного мозга 24S-гидроксиклестерина в крови в множестве склероза: эффект лечения ремиелинизирующими антителами RIGM22.

Хлестерин является важным и важным компонентом миелина. Текучесть холестерина мозга в организме человека может быть изучена неинвазивным образом с помощью метаболической маркировки метаболита холестерина 24S-гидроксиклестерина (24-OHC), который высвобождается в кровь. ЦЕЛИ: Мы изучили влияние на оборот холестерина мозга у здоровых людей и на множественный склероз (MS) после лечения плацебо или ремиелионирующей моноколональной антитела, RHIGM22, которая связывается с олигодендроцитами и миелином.МЕТОДЫ: Уровни синтеза холестерина мозга в vivo измерялись на основе использования этикеток и выбыти

Recent advances in use of fresh frozen plasma, cryoprecipitate, immunoglobulins, and clotting factors for transfusion support in patients with hematologic disease.

Hematologic diseases include a broad range of acquired and congenital disorders, many of which affect plasma proteins that control hemostasis and immune responses. Therapeutic interventions for these disorders include transfusion of plasma, cryoprecipitate, immunoglobulins, or convalescent plasma-containing therapeutic antibodies from patients recovering from infectious diseases, as well as concentrated pro- or anticoagulant factors. This review will focus on recent advances in the uses of plasma and its derivatives for patients with acquired and congenital hematologic disorders.

Adeno-associated virus as a delivery vector for gene therapy of human diseases.

Adeno-associated virus (AAV) has emerged as a pivotal delivery tool in clinical gene therapy owing to its minimal pathogenicity and ability to establish long-term gene expression in different tissues. Recombinant AAV (rAAV) has been engineered for enhanced specificity and developed as a tool for treating various diseases. However, as rAAV is being more widely used as a therapy, the increased demand has created challenges for the existing manufacturing methods. Seven rAAV-based gene therapy products have received regulatory approval, but there continue to be concerns about safely using high-dos

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.

IntroductionHypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild end of the spectrum, it presents as pathologic fractures in later adulthood. Patients with isolated dental manifestations, typically presenting as premature loss of primary teeth, are classified as having odontohypophosphatasia (odontoHPP). A subset of patients diagnosed with odontoHPP in childhood can later develop extra-dental manifestations

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… In light of the recent approval of enzyme replacement therapy with recombinant human TNSALP, this population may potentially benefit from early diagnosis and early treatment. Berkseth and colleagues ( Berkseth et al., 2013 ) performed a retrospective medical record review of 22 adults with HPP. … Enzyme-replacement therapy in life-threatening hypophosphatasia. N. Engl. J. Med. 2012;366:904–913. doi: 10.1056/NEJMoa1106173. Whyte M., Zhang F., Wenkert D., McAlister W., Mack K., Benigno M. …

Poly(ethylene glycol)-Prodrug Conjugates: Concept, Design, and Applications.

Poly(ethylene glycol) (PEG) is the most widely used polymer in delivering anticancer drugs clinically. PEGylation (i.e., the covalent attachment of PEG) of peptides proteins, drugs, and bioactives is known to enhance the aqueous solubility of hydrophobic drugs, prolong circulation time, minimize nonspecific uptake, and achieve specific tumor targetability through the enhanced permeability and retention effect. Numerous PEG-based therapeutics have been developed, and several have received market approval. A vast amount of clinical experience has been gained which has helped to design PEG prodru

Перенос Митохондрии для ремонта миелина.

Обезвоживание является общей характеристикой нейро-воспалительных и дегенеративных заболеваний центральной нервной системы (КНС), таких, как множественный склероз (МС). Часто это связано с нарушениями межклеточной связи, биоэнергетики и метаболического баланса в сочетании с митохондриальной дисфункцией в таких клетках, как олигодендроциты, нейроны, астроциты и микроглиа. Несмотря на то, что нынешние методы лечения MS сосредоточены на иммуномодуляции, они не могут остановить или обратить вспять прогресс демиэлизации. Последние достижения подчеркивают межклеточный митохондриальный обмен в качест

Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology.

OBJECTIVES: Hypophosphatasia (HPP) is a rare genetic metabolic bone disease that can cause chronic pain and fractures. Its hallmark is a persistently low serum ALP. HPP is now recognised by many osteoporosis specialists, but other specialists, such as rheumatologists and primary care physicians, may be less aware of this condition, causing diagnostic delay and possible harm to these patients. Our objective was to highlight features that can reduce this delay. METHODS: We retrospectively analysed 14 patients that presented with musculoskeletal pain to general rheumatology clinic at St. George'

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… Benefits of a prompter diagnosis of HPP include avoiding misdiagnosis of osteoporosis and subsequent bisphosphonate treatment, initiating appropriate treatment such as colchicine for CPPD, enabling family screening, and identifying candidates for enzyme replacement therapy. … Since 2015, asfotase alfa enzyme replacement therapy has been available for adults with HPP and symptom onset in childhood. It has been shown to improve functional abilities such as gross motor function and muscle strength [ 10 ]. …

Нанозимы: инновационная терапия в борьбе с нейродегенеративными заболеваниями.

Нейродегенеративные заболевания, включая болезнь Альцгеймера (AD), болезнь Паркинсона (PD), множественный склероз (MS), амиотропический боковой склероз (ALS) и болезнь Хантингтона (HD), представляют собой серьезную проблему для здоровья населения мира из-за их прогрессивного характера и отсутствия лечения. Эти расстройства характеризуются окислительным стрессом, завязыванием белка и нейроинфламмацией, которые в совокупности приводят к нервным повреждениям и смерти. Последние достижения в нанотехнологии позволили внедрить нанозменные наноматериалы, которые имитируют деятельность, похожую на фер

Long-Term Effects of Pediatric Acute Lymphoblastic Leukemia Chemotherapy: Can Recent Findings Inform Old Strategies?

During the last few decades, pediatric acute lymphoblastic leukemia (ALL) cure rates have improved significantly with rates exceeding 90%. Parallel to this remarkable improvement, there has been mounting interest in the long-term health of the survivors. Consequently, modified treatment protocols have been developed and resulted in the reduction of many adverse long-term consequences. Nevertheless, these are still substantial concerns that warrant further mitigation efforts. In the current review, pediatric-ALL survivors' late adverse events, including secondary malignant neoplasms (SMNs), car