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A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.

Hereditary fructose intolerance is a rare genetic disorder that is inherited in an autosomal recessive manner, with mutations sometimes occurring spontaneously. Consuming fructose triggers biochemical abnormalities, disrupting liver processes like glycogenolysis and gluconeogenesis. Recent studies have revealed elevated intrahepatic fat levels in affected individuals. Symptoms include aversion to fructose-containing foods, hypoglycemia, liver and kidney dysfunction, and growth delays, with severe cases leading to liver enlargement, fatty liver disease, kidney failure, and life-threatening hypo

Биологическая роль мономеров традиционной китайской медицины в нейронных расстройствах.

Традиционная китайская медицина (TCM) является биоактивным соединением, извлекаемым из китайских травяных лекарственных препаратов, обладающих определенной биологической активностью и фармакологическими последствиями, и привлекла большое внимание к лечению нейронных заболеваний. Однако применение мономеров ТХМ ограничено их низкой растворимостью и низкой способностью пересекать барьер кровеносного мозга (ББД). Экзосомы представляют собой небольшие внеклеточные везикли (ЭМ) диаметром от 30 до 150 нм и могут использоваться в качестве носителей наркотиков, которые непосредственно предназначены дл

Mechanisms of resistance to antibody-drug conjugates in cancer therapy: molecular basis and therapeutic strategies.

Antibody-drug conjugates (ADCs) have emerged as a transformative class in oncology, integrating the target specificity of monoclonal antibodies with the potent cytotoxicity of small-molecule payloads. By harnessing tumor-specific antigen recognition, ADCs enable the selective delivery of chemotherapeutic agents, thereby enhancing therapeutic efficacy while reducing systemic toxicity. Their clinical success across both hematologic malignancies and solid tumors underscores their potential to redefine targeted cancer therapy. However, the clinical durability of ADCs is increasingly undermined by

Transcription and Translation Inhibitors in Cancer Treatment.

Transcription and translation are fundamental cellular processes that govern the protein production of cells. These processes are generally up regulated in cancer cells, to maintain the enhanced metabolism and proliferative state of these cells. As such cancerous cells can be susceptible to transcription and translation inhibitors. There are numerous druggable proteins involved in transcription and translation which make lucrative targets for cancer drug development. In addition to proteins, recent years have shown that the "undruggable" transcription factors and RNA molecules can also be targ

2018 Ежегодное совещание СНГ: Североамериканская конференция по вопросам неадекватности и регулирования.

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… There are multiple treatment modalities available for ADA-SCID, including enzyme replacement therapy (ERT), allogeneic hematopoietic cell transplant (HCT) and experimental autologous transplant of gene corrected cells (in recent years preceded by low dose busulfan), designated as gene therapy (GT). …

Current drugs for HIV-1: from challenges to potential in HIV/AIDS.

The human immunodeficiency virus (HIV) persists in latently infected CD4+T cells and integrates with the host genome until cell death. Acquired immunodeficiency syndrome (AIDS) is associated with HIV-1. Possibly, treating HIV/AIDS is an essential but challenging clinical goal. This review provides a detailed account of the types and mechanisms of monotherapy and combination therapy against HIV-1 and describes nanoparticle and hydrogel delivery systems. In particular, the recently developed capsid inhibitor (Lenacapavir) and the Ainuovirine/tenofovir disoproxil fumarate/lamivudine combination (

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease.

We present an overview of clinical trials involving gene editing using clustered interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9), transcription activator-like effector nucleases (TALENs), or zinc finger nucleases (ZFNs) and discuss the underlying mechanisms. In cancer immunotherapy, gene editing is applied ex vivo in T cells, transgenic T cell receptor (tTCR)-T cells, or chimeric antigen receptor (CAR)-T cells to improve adoptive cell therapy for multiple cancer types. This involves knockouts of immune checkpoint regulators such as PD-1, components of the endo

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… Patients suffer from multisystemic symptoms and reduced life expectancy that can vary depending on the type of MPS and the severity of the disease-associated variant. 306 The currently available treatment for MPS I, MPS II, MPS IVA, MPS VI, and MPS VII is enzyme replacement therapy (ERT), in which recombinant …

Orthogonal targeting of osteoclasts and myeloma cells for radionuclide stimulated dynamic therapy induces multidimensional cell death pathways.

Rationale: Multiple myeloma (MM) is a multifocal malignancy of bone marrow plasma cells, characterized by vicious cycles of remission and relapse that eventually culminate in death. The disease remains mostly incurable largely due to the complex interactions between the bone microenvironment (BME) and MM cells (MMC). In the "vicious cycle" of bone disease, abnormal activation of osteoclasts (OCs) by MMC causes severe osteolysis, promotes immune evasion, and stimulates the growth of MMC. Disrupting these cancer-stroma interactions would enhance treatment response. Methods: To disrupt this cycle

The γ-secretase complex: from discovery to a therapeutic target.

γ-Secretase is an intricate intramembrane aspartyl protease that cleaves within the transmembrane domain of ∼150 substrates and is considered the 'proteasome of the membrane'. This enzyme consists of four different subunits, with presenilin being the catalytic subunit. This review provides a brief overview of γ-secretase as a proteolytic enzyme, from its biochemistry and biology to its roles in disease and potential as a therapeutic target. A detailed discussion on the discovery and structure of γ-secretase is followed by a survey of its substrates, including the most studied amyloid precursor

Abstract

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Derivation and elimination of uremic toxins from kidney-gut axis.

Uremic toxins are chemicals, organic or inorganic, that accumulate in the body fluids of individuals with acute or chronic kidney disease and impaired renal function. More than 130 uremic solutions are included in the most comprehensive reviews to date by the European Uremic Toxins Work Group, and novel investigations are ongoing to increase this number. Although approaches to remove uremic toxins have emerged, recalcitrant toxins that injure the human body remain a difficult problem. Herein, we review the derivation and elimination of uremic toxins, outline kidney-gut axis function and relati

Vascular endothelial growth factor signaling in health and disease: from molecular mechanisms to therapeutic perspectives.

Vascular endothelial growth factor (VEGF) signaling is a critical regulator of vasculogenesis, angiogenesis, and lymphangiogenesis, processes that are vital for the development of vascular and lymphatic systems, tissue repair, and the maintenance of homeostasis. VEGF ligands and their receptors orchestrate endothelial cell proliferation, migration, and survival, playing a pivotal role in dynamic vascular remodeling. Dysregulated VEGF signaling drives diverse pathological conditions, including tumor angiogenesis, cardiovascular diseases, and ocular disorders. Excessive VEGF activity promotes tu

Case Report: First occurrence of smoldering multiple myeloma in activated phosphoinositide 3-Kinase δ syndrome.

Activated phosphoinositide 3-kinase δ syndrome (APDS) is a newly described inborn error of immunity. Heterozygous mutations in the PI3Kδ catalytic subunit p110δ (PIK3CD) or regulatory subunit p85α (PIK3R1) lead to APDS1 and APDS2, respectively. Clinical manifestations include lymphoproliferation, recurrent respiratory tract infections, herpesvirus infections, enteropathy, elevated IgM, autoimmunity, and increased susceptibility to tumors, particularly lymphoma. Smoldering multiple myeloma (SMM), an asymptomatic clonal plasma cell disorder considered a pre-malignant entity, may progress to symp

The Role of Angiogenesis in Haemophilic Arthropathy: Where Do We Stand and Where Are We Going?

Haemophilia is an inherited bleeding disorder that can lead to degenerative joint arthropathy due to recurrent bleeding episodes affecting the musculoskeletal system of the patient. The cause of bleeding can be either traumatic or spontaneous. The pathogenesis of haemophilic arthropathy is unclear as many factors like iron, inflammatory cytokines, and angiogenic factors contribute to this process. Blood into joints can deteriorate the bone to such an extent that the patient experiences pain, reduction of the range of movement, and deformity of the joint, conditions that could have a great impa

Phase 1 study of selinexor plus carfilzomib and dexamethasone for the treatment of relapsed/refractory multiple myeloma.

Selinexor, an oral Selective Inhibitor of Nuclear Export, targets Exportin 1 (XPO1, also termed CRM1). Non-clinical studies support combining selinexor with proteasome inhibitors (PIs) and corticosteroids to overcome resistance in relapsed/refractory multiple myeloma (RRMM). We conducted a phase I dose-escalation trial of twice-weekly selinexor in combination with carfilzomib and dexamethasone (SKd) to determine maximum tolerated dose in patients with RRMM (N = 21), with an expansion cohort to assess activity in carfilzomib-refractory disease and identify a recommended phase II dose (RP2D). Du

Management of Potential Organ Donor: Indian Society of Critical Care Medicine-Position Statement.

This position statement is documented based on the input from all contributing coauthors from the Indian Society of Critical Care Medicine (ISCCM), following a comprehensive literature review and summary of current scientific evidence. Its objective is to provide the standard perspective for the management of potential organ/tissue donors after brain death (BD) in adults only, regardless of the availability of technology. This document should only be used for guidance only and is not a substitute for proper clinical decision making in particular circumstances of any case. Endorsement by the IS

Investigation of the cytotoxicity induced by cannabinoids on human ovarian carcinoma cells.

Cannabinoids have been shown to induce anti-tumor activity in a variety of carcinoma cells such as breast, prostate, and brain. The aim of the present study is to investigate the anti-tumor activity of cannabinoids, CBD (cannbidiol), and CBG (cannabigerol) in ovarian carcinoma cells sensitive and resistant to chemotherapeutic drugs. Sensitive A2780 cells and resistant A2780/CP70 carcinoma cells and non-carcinoma cells were exposed to varying concentrations of CBD, CBG, carboplatin or CB1 and CB2 receptor antagonists, AM251 and AM630, respectively, alone or in combination, at different exposure

Эффективность и безопасность иммуноадсорбции как спасательной терапии подстрекательских миопатий: доклад three - обзор дел и литературы.

Идиопатическая воспалительная миопатия (МИМ) резюмирует редкие, системные аутоиммунные условия, характеризующиеся главным образом провокационным повреждением скелетной мышцы. Несмотря на то, что мышечные мышцы повреждены в первую очередь, эти заболевания, связанные с IIM, связаны с другими органами, включая кожу, легкие, верхний желудочно-кишечный тракт, суставы и сердце. Несмотря на то, что многие пациенты адекватно реагируют на иммунодепрессивное лечение, некоторые пациенты развивают быстро прогрессивные и устойчивые к лечению жизнестойкие курсы. Для лечащего врача ИИМ является сложным делом

Cuproptosis Inducers in Cancer Therapy: State of the Art and Challenges.

Cancer continues to be the primary cause of death despite significant progress in medicine, and finding effective therapies remains a challenge. New treatments are needed to minimize the harmful effects on the body and increase the selectivity of drugs. These therapies must also overcome cancer cell resistance and prevent metastasis. Metal-based drugs are becoming increasingly crucial for treating tumors, and copper ion-based systems and nanoparticles have been identified as having unique properties and anticancer potential. Given the key role exerted by Cu in the etiology, severity, and progr

Hypomethylating Chemotherapeutic Agents as Therapy for Myelodysplastic Syndromes and Prevention of Acute Myeloid Leukemia.

Myelodysplastic Syndromes (MDSs) affect the elderly and can progress to Acute Myeloid Leukemia (AML). Epigenetic alterations including DNA methylation and chromatin modification may contribute to the initiation and progression of these malignancies. DNA hypomethylating agents such as decitabine and azacitidine are used as therapeutic treatments and have shown to promote expression of genes involved in tumor suppression, apoptosis, and immune response. Another anti-cancer drug, the proteasome inhibitor bortezomib, is used as a chemotherapeutic treatment for multiple myeloma (MM). Phase III clin