RENAL HEREDITARY TUBULOPATHIES: PHOSPHATE DIABETES (Two clinical cases) DOI Open Access

OKSANA V. DAVYDOVA,

A. A. Antonova,

LARISA I. DERBENEVA

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 124 - 129

Published: April 1, 2024

Introduction. Phosphate diabetes is a representative of group diseases known as tubulopathies. It more often hereditary nature. The disease manifests at an early age with symptoms similar to alimentary rickets, which creates problems for diagnosing and prescribing adequate therapy. In this case, the current situation leads development bone deformities disability, delayed physical development, need surgical treatment, reduces quality life patients long time. Aim: To consider two clinical cases phosphate typical symptoms, demonstrate challenges, analyze treatment effects. Materials Methods. Two are presented. first patient: 16 years old, observed from 2, takes vitamin D inorganic phosphates diagnosis date. geneticist found autosomal dominant pathology. girl underwent surgeries her leg deformity. second patient, 10 was diagnosed 4 years. DNA diagnostics detected mutation in COL9A3 gene. They refused complete exome sequencing. From date, patient treated active metabolite phosphates. Results Discussion. Clinician-observed: Patient 1 had deformities, painful legs, disharmonious caused by growth retardation. Blood concentrations calcium phosphorus within normal, there hypocalciuria urine, while normal. patient’s kidney function not impaired. 2 physically retarded, varus foot pes planovalgus feet. Kidney impaired, level alkaline phosphatase increased, total blood levels decreased indicating normal values, urine phosphaturia ranges. Due detected, Stickler syndrome excluded. Orthopedic surgeon recommended deformities. Conclusions. examination showed that therapy allows keeping under control avoiding side effects taking D.

Language: Английский

PREDICTION OF INTERSTITIAL LUNG DISEASE PROGRESSION IN SYSTEMIC SCLEROSIS PATIENTS: A COHORT STUDY ANALYSIS DOI Open Access

D. Khorolskii,

ALESYA A. KLIMENKO,

Е. С. Першина

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 79 - 84

Published: April 1, 2024

Introduction. Systemic sclerosis (scleroderma) is an autoimmune disease that often causes inflammatory fibrosing lesions of the pulmonary interstitial tissue, referred to as lung disease. It associated with a significant reduction in survival and leading immediate cause systemic scleroderma patients’ death. Progression rate varies greatly. Since specific immunosuppressive antifibrotic treatment only justified case progressive lesions, predicting progression great practical importance. Aim: To develop approaches patients. Materials Methods. Our analysis included data patients observed Registry Myositis, Scleroderma Mixed Diseases (REMISSiZ). Inclusion criteria: Age 18+ years, proven scleroderma, eligibility for ACR/EULAR (2013), repeated high-resolution computed tomography lungs interval at least 1 year. All underwent 6-minute walking tests. Results Discussion. The study 44 (43 women) aged 62.9 ± 11.5 years average. average follow-up duration was 530 231 days. Radiological younger age, p=0.03, severity Raynaud’s phenomenon, p=0.032, shorter duration, p=0.038, distance covered walk test, p=0.05. functional impairment, determined by dynamics decrease blood oxygen saturation rest (p=0.003), breath shortness according Borg scale (p=0.006), initial test (p <0.001), presence topoisomerase I antibodies (anti-Scl-70, p=0.034), complaints (p=0.043) dysphagia (p=0.034). As result reverse stepwise selection variables, three independent predictors were selected from above indicators: Dysphagia, anti-Scl-70, test. Based on these indicators, regression formula presented impairment Conclusions. X-ray-detected age phenomenon severity. predict decline functionality, it advisable consider (anti-Scl-70).

Language: Английский

Citations

18

HIV- AND TUBERCULOSIS-ASSOCIATED PERICARDITIS DOI Open Access
Е. А. Бородулина, K. Zhilinskaya,

DANIIL A. TALAGAEV

et al.

The Bulletin of Contemporary Clinical Medicine, Journal Year: 2024, Volume and Issue: 17(2), P. 91 - 97

Published: April 1, 2024

Introduction. HIV infection, despite the measures taken, continues to spread throughout world. Unfavorable course of diseases is often determined by some concomitant pathologies. Among HIV-infected patients, tuberculosis most common disease forming comorbid condition named “TB/HIV” that reaches more than a half all cases newly diagnosed in regions Russia. In recent years, due increase HIV- infected patients’ life expectancy based on antiretroviral therapy, cardiovascular diseases, such as primarily infectious pericarditis, are gradually beginning hold significant place. Aim: To select and analyze publications dealing with tuberculosis-associated pericarditis. Materials Methods. A systematic search was conducted for examined possible associations between pericardial damage, infection tuberculosis. carried out electronic databases PubMed, www.pubmed.gov; MEDLINE, www.ncbi. nlm.nih.gov; Russian scientific database eLibrary, https://www.elibrary.ru. Preference given meta-analyses or reviews, studies duplicate materials were excluded from analysis. Results Discussion. Publications epidemiology pericarditis associated world Russia presented authors different countries; both human immunodeficiency virus mycobacterium important development Tuberculous being rare manifestation tuberculosis, usually reflects severity an unfavorable prognosis. unexplained effusion, it advisable include testing differential diagnosis plan. Conclusions. Diagnosis requires multidisciplinary approach; late has

Language: Английский

Citations

18

Senescence-Associated Secretory Phenotype of Cardiovascular System Cells and Inflammaging: Perspectives of Peptide Regulation DOI Creative Commons
Khavinson VKh, N. S. Linkova, Anastasiia Dyatlova

et al.

Cells, Journal Year: 2022, Volume and Issue: 12(1), P. 106 - 106

Published: Dec. 27, 2022

A senescence-associated secretory phenotype (SASP) and a mild inflammatory response characteristic of senescent cells (inflammaging) form the conditions for development cardiovascular diseases: atherosclerosis, coronary heart disease, myocardial infarction. The purpose review is to analyze pool signaling molecules that SASP inflammaging in system search targets action vasoprotective peptides. characterized by change synthesis anti-proliferative proteins (p16, p19, p21, p38, p53), cytokines (IL-1α,β, IL-4, IL-6, IL-8, IL-18, TNFα, TGFβ1, NF-κB, MCP), matrix metalloproteinases, adhesion molecules, sirtuins. It has been established peptides are physiological regulators body functions. Vasoprotective polypeptides (liraglutide, atrial natriuretic peptide, mimetics relaxin, Ucn1, adropin), KED tripeptide, AEDR tetrapeptide regulate involved SASP-forming system. This indicates prospects drugs based on treatment age-associated pathology.

Language: Английский

Citations

30

Modulation of atherosclerosis‐related signaling pathways by Chinese herbal extracts: Recent evidence and perspectives DOI
Changxing Liu, Xinyi Guo, Xulong Zhang

et al.

Phytotherapy Research, Journal Year: 2024, Volume and Issue: 38(6), P. 2892 - 2930

Published: April 5, 2024

Abstract Atherosclerotic cardiovascular disease remains a preeminent cause of morbidity and mortality globally. The onset atherosclerosis underpins the emergence ischemic diseases, including coronary heart (CHD). Its pathogenesis entails multiple factors such as inflammation, oxidative stress, apoptosis, vascular endothelial damage, foam cell formation, platelet activation. Furthermore, it triggers activation diverse signaling pathways Phosphatidylinositol 3‐kinase/protein kinase B (PI3K/Akt), NF‐E2‐related factor 2/antioxidant response element (Nrf2/ARE), Notch pathway, peroxisome proliferator‐activated receptor (PPAR), nucleotide oligo‐structural domain‐like thermoprotein structural domain‐associated protein 3 (NLRP3), silencing information regulator 2‐associated enzyme 1 (Sirt1), nuclear transcription factor‐κB (NF‐κB), Circular RNA (Circ RNA), MicroRNA (mi Transforming growth factor‐β (TGF‐β), Janus kinase‐signal transducer activator (JAK/STAT). Over recent decades, therapeutic approaches for have been dominated by utilization high‐intensity statins to reduce lipid levels, despite significant adverse effects. Consequently, there is growing interest in development safer more efficacious drugs modalities. Traditional Chinese medicine (TCM) offers vital strategy prevention treatment diseases. Numerous studies detailed mechanisms through which TCM active ingredients modulate molecules influence atherosclerotic process. This article reviews implicated advancements research on extracts treatment, drawing original articles from various databases Google Scholar, Medline, CNKI, Scopus, Pubmed. objective furnish reference clinical management

Language: Английский

Citations

7

Protein–protein interaction network-based integration of GWAS and functional data for blood pressure regulation analysis DOI Creative Commons
Evridiki-Pandora Tsare, Maria I. Klapa, Nicholas Κ. Moschonas

et al.

Human Genomics, Journal Year: 2024, Volume and Issue: 18(1)

Published: Feb. 8, 2024

Abstract Background It is valuable to analyze the genome-wide association studies (GWAS) data for a complex disease phenotype in context of protein–protein interaction (PPI) network, as related pathophysiology results from function interacting polyprotein pathways. The analysis may include design and curation phenotype-specific GWAS meta-database incorporating genotypic eQTL linking PPI other biological datasets, development systematic workflows network-based integration toward protein pathway prioritization. Here, we pursued this blood pressure (BP) regulation. Methods relational scheme implemented Microsoft SQL Server BP-GWAS enabled combined storage of: attributes mined Catalog literature, Ensembl-defined SNP-transcript associations, GTEx data. BP-protein interactome was reconstructed PICKLE meta-database, extending GWAS-deduced network with shortest paths connecting all GWAS-proteins into one component. shortest-path intermediates were considered BP-related. For prioritization, new integrated GWAS-based scoring two criteria: considering role by (RbSP) novel promoting common neighbors GWAS-prioritized proteins. Prioritized proteins ranked number satisfied criteria. Results includes 6687 variants linked 1167 BP-associated protein-coding genes. 1065 proteins, 672 forming connected RbSP contains 1443 additional, network-deduced indicated that essentially are at most second neighbors. prioritized set derived union BP-significant any or included 335 ~ 2/3 deduced BP extension 126 least ESR1 only satisfying three criteria, followed top-10 INSR, PTN11, CDK6, CSK, NOS3, SH2B3, ATP2B1, FES FINC, two. Pathway revealed numerous bioprocesses, which indeed functionally supported BP-associated, our understanding about Conclusions workflow could be used multifactorial diseases.

Language: Английский

Citations

5

Schisandrol B inhibits calcification of aortic valve by targeting p53 related inflammatory and senescence DOI Open Access
Xing Liu, Kan Wang, Qiang Zheng

et al.

Biomedicine & Pharmacotherapy, Journal Year: 2024, Volume and Issue: 178, P. 117241 - 117241

Published: Aug. 6, 2024

Calcific aortic valve disease (CAVD) primarily involves osteogenic differentiation in human interstitial cells (hVICs). Schisandrol B (SolB), a natural bioactive constituent, has known therapeutic effects on inflammatory and fibrotic disorders. However, its impact calcification not been reported. We investigated the effect of SolB hVICs. Transcriptome sequencing was used to analyze potential molecular pathways affected by treatment. The study also included an vivo murine model using wire injury surgery observe SolB's calcification. inhibited hVICs, reversing increase calcified nodule formation proteins. In model, significantly decreased peak velocity post-injury reduced fibrosis identified p53 signaling pathway as key target SolB, demonstrating role glue mouse double minute 2 (MDM2)-p53 interaction, thereby promoting ubiquitination degradation, which further p53-related senescence response. These results highlighted for CAVD via inhibiting revealed new mechanism provided insight theraputic CAVD.

Language: Английский

Citations

4

Modulation of blood-tumor barrier transcriptional programs improves intratumoral drug delivery and potentiates chemotherapy in GBM DOI Creative Commons
Jorge L. Jimenez-Macias, Philippa Vaughn-Beaucaire,

Ayush Bharati

et al.

Science Advances, Journal Year: 2025, Volume and Issue: 11(9)

Published: Feb. 26, 2025

Efficient drug delivery to glioblastoma (GBM) is a major obstacle as the blood-brain barrier (BBB) and blood-tumor (BTB) prevent passage of majority chemotherapies into brain. Here, we identified transcriptional 12-gene signature associated with BTB in GBM. We CDH5 core molecule this set confirmed its expression GBM vasculature using transcriptomics immunostaining patient specimens. The indirubin-derivative, 6-bromoindirubin acetoxime (BIA), down-regulates other genes, causing endothelial disruption vitro murine xenograft models. Treatment BIA increased intratumoral cisplatin accumulation potentiated DNA damage by targeting repair pathways. Last, an injectable nanoparticle formulation, PPRX-1701, significantly improved efficacy Our work reveals potential targets bifunctional properties modulator potentiator chemotherapy, supporting further development.

Language: Английский

Citations

0

Exploring the potential link between human papillomavirus infection and coronary artery disease: a review of shared pathways and mechanisms DOI
Dwaipayan Saha,

Preyangsee Dutta,

Kimberly R. Rebello

et al.

Molecular and Cellular Biochemistry, Journal Year: 2025, Volume and Issue: unknown

Published: March 6, 2025

Language: Английский

Citations

0

First trimester circulating miR-208b-3p and miR-26a-1-3p are relevant to the prediction of gestational hypertension DOI Creative Commons
Andrée‐Anne Clément, Cécilia Légaré,

Véronique Desgagné

et al.

BMC Pregnancy and Childbirth, Journal Year: 2025, Volume and Issue: 25(1)

Published: March 8, 2025

Abstract Background Gestational hypertension (GH) is linked to an increased risk of cardiometabolic diseases for both mother and child, but we lack reliable biomarkers identify high-risk women early in pregnancy. MicroRNAs (miRNAs) are small non-coding RNA that have emerged as promising pregnancy complications. We thus aimed first trimester circulating miRNAs associated with GH build a miRNA-based algorithm predict incidence. Methods quantified using next-generation sequencing plasma samples collected at Gen3G ( N = 413, including 28 cases) 3D 281, 21 prospective birth cohorts. MiRNAs (identified DESeq2, p -value < 0.05) replicated were included stepwise logistic regression model estimate the probability developing based on (normalized z-score counts) maternal characteristics contribute most model. Results identified onset later cohort. Among these, three cohort (similar fold change 0.1) models GH-related factors. When combined mean arterial pressure (MAP), miR-208b-3p miR-26a-1-3p achieve AUC 0.803 (95%CI: 0.512–0.895) 0.709 0.588–0.829) 3D. The addition miR-208b-3p, significantly improves prediction performance over MAP alone 0.03). then proposed low thresholds, which could help very those who benefit from prevention monitoring throughout their Conclusion combination offers good predictors GH. Interestingly, these target pathways related cardiovascular system be relevant pathophysiology These provide novel avenue lead even more adequate obstetrical care reduce complications

Language: Английский

Citations

0

Vascular Remodeling: The Multicellular Mechanisms of Pulmonary Hypertension DOI Open Access

Jinjin Dai,

H Chen,

Jiayi Fang

et al.

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(9), P. 4265 - 4265

Published: April 30, 2025

Pulmonary hypertension (PH) is a serious cardiovascular disease caused by variety of pathogenic factors, which characterized increased pulmonary vascular resistance (PVR) and progressive elevation mean artery pressure (mPAP). This can lead to right ventricular hypertrophy and, in severe cases, heart failure even death. Vascular remodeling-a pathological modification involving aberrant vasoconstriction, cell proliferation, apoptosis resistance, inflammation the system-is significant hallmark PH critical process its progression. Recent studies have found that remodeling involves participation diversity cellular alterations, such as dysfunction endothelial cells (PAECs), proliferation migration smooth muscle (PASMCs), phenotypic differentiation fibroblasts, inflammatory response immune cells, pericyte proliferation. review focuses on mechanisms intercellular crosstalk these process, emphasizing recent advances knowledge regarding signaling pathways, responses, apoptosis, To develop better treatments, list possible therapeutic approaches meant slow down certain biological functions provided, with aim providing new insights into treatment simplifying intricacies complex connections. In this review, comprehensive academic databases PubMed, Embase, Web Science, Google Scholar were systematically searched discuss relevant human animal PH, focus PH.

Language: Английский

Citations

0