Pflügers Archiv - European Journal of Physiology, Год журнала: 2024, Номер 477(3), С. 479 - 494
Опубликована: Дек. 17, 2024
Язык: Английский
Pflügers Archiv - European Journal of Physiology, Год журнала: 2024, Номер 477(3), С. 479 - 494
Опубликована: Дек. 17, 2024
Язык: Английский
Pulse, Год журнала: 2024, Номер 12(1), С. 19 - 26
Опубликована: Янв. 1, 2024
<b><i>Background:</i></b> Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary utilised common and latterly rare genetic in attempts to elucidate the contribution risk of hypertension. <b><i>Summary:</i></b> Using genome-wide association studies (GWASs), associations hundreds reported, implicating thousands genes. Individual small effect sizes cumulatively account for around 6% risk. The variant signal is enriched relevant tissues physiological processes, while some are associated traits expected impacts risk, such fruit intake, BMI, or time watching television. using obtained from exome sequence data implicated number genes which impaired function has moderate effects blood pressure and/or Notably, impair elements guanylate cyclase activation, stimulated by either natriuretic hormones nitric oxide, increase Conversely, impairing dopamine beta-hydroxylase renin production lower pressure. Variants definite can be designated remain extremely again make only overall Although these results interest, it not clear that they provide radical new insights identify drug targets were known. Nor does seem testing could useful terms quantifying disease guiding treatment. <b><i>Key Messages:</i></b> Research increased our knowledge about relationship between naturally occurring variation serve confirm understanding underlying physiology, their value potentially leading practical advances management appears questionable.
Язык: Английский
Процитировано
5Advances in Kidney Disease and Health, Год журнала: 2024, Номер 31(6), С. 496 - 503
Опубликована: Ноя. 1, 2024
Язык: Английский
Процитировано
4Frontiers in Molecular Biosciences, Год журнала: 2025, Номер 11
Опубликована: Янв. 17, 2025
Kidney diseases pose a serious healthcare problem because of their high prevalence, worsening patients' quality life, and mortality. Patients with kidney are often asymptomatic until disease progression starts. Expensive renal replacement therapy options, such as dialysis or transplant, required for end-stage disease. Early diagnosis pathology is crucial slowing down curbing further damage. This study aimed to analyze the features protein composition blood plasma in patients most common pathologies: calculus, cyst, cancer. The involved 75 subjects. Proteins associated pathologies (CFB, SERPINA3, HPX, HRG, SERPING1, HBB, ORM2, CP) were proposed. These proteins important participants complement coagulation cascade activation lipid metabolism. revealed phosphorylated proteoforms C4A/C4B, F2, APOB, TTR, NRAP) identified. For them, modification sites mapped on 3D models, potential role formation complexes native partner was assessed. demonstrates that selected have similar proteomic profile, can be classified into groups an accuracy (70-80)%.
Язык: Английский
Процитировано
0Cells, Год журнала: 2025, Номер 14(8), С. 596 - 596
Опубликована: Апрель 15, 2025
Ciliopathies are disorders that affect primary or secondary cellular cilia structures associated with ciliary function. Primary (PC) essential for metabolic regulation and embryonic development, pathogenic variants in cilia-related genes linked to several pediatric conditions, including renal-hepatic diseases congenital defects. Biliary atresia (BA) is a progressive infantile cholangiopathy the leading cause of liver transplantation. Although exact etiology BA remains unclear, evidence suggests multifactorial pathogenesis influenced by both genetic environmental factors. Patients laterality defects exhibit ciliopathies. Interestingly, even isolated without extrahepatic anomalies presents morphological functional abnormalities, suggesting triggers may disrupt Among these factors, hypoxia has emerged as potential modulator this dysfunction. Hypoxia-inducible factor 1-alpha (HIF-1α) plays central role hepatic responses oxygen deprivation, influencing bile duct remodeling fibrosis, which key processes progression. This review explores crosstalk between ciliopathies, focus on BA. It discusses molecular mechanisms through drive disease progression examines therapeutic targeting hypoxia-related pathways. Understanding how deprivation influences function open new avenues treating biliary ciliopathies improving patient outcomes.
Язык: Английский
Процитировано
0Kidney International Reports, Год журнала: 2025, Номер unknown
Опубликована: Апрель 1, 2025
Язык: Английский
Процитировано
0Advanced Healthcare Materials, Год журнала: 2025, Номер unknown
Опубликована: Май 23, 2025
Abstract Kidney diseases, posing significant global public health challenges due to their complex pathogenesis and diagnostic/therapeutic difficulties, have seen emerging advancements through nanomedicine. In diagnostics, nanoparticles leverage unique physicochemical properties enhance imaging precision. Superparamagnetic iron oxide improve magnetic resonance sensitivity by amplifying T 2 ‐weighted contrast, while microbubbles/nanobubbles ultrasound resolution via signal reflection. Quantum dots gold optimize photoacoustic with superior fluorescence photostability. Therapeutically, nanoparticle‐based drug delivery systems demonstrate targeted delivery, reduced systemic toxicity, improved stability bioavailability in preclinical studies. Nanocarrier‐integrated stem cell gene therapies further show potential repairing renal cells mitigating kidney injury. This review systematically examines nanomedicine's dual diagnostic therapeutic roles compares strengths limitations of various nanodelivery platforms, addresses current clinical translation. By exploring novel nanotechnology‐driven strategies, it aims guide future research toward effective, tailored for disease management.
Язык: Английский
Процитировано
0Translational Pediatrics, Год журнала: 2024, Номер 13(4), С. 682 - 689
Опубликована: Апрель 1, 2024
Background: Caroli syndrome or disease is characterized by focal dilation of the intrahepatic bile ducts, with without congenital liver fibrosis. Mutations in WDR19 gene can result nephropathy, an autosomal recessive cystic kidney disease. However, this genetic mutation clinically associated We hypothesize that mutations may contribute to extrarenal phenotypes such as syndrome.
Язык: Английский
Процитировано
2Kidney International, Год журнала: 2024, Номер 106(3), С. 532 - 535
Опубликована: Июнь 27, 2024
Язык: Английский
Процитировано
1Kidney International Reports, Год журнала: 2024, Номер 9(5), С. 1210 - 1219
Опубликована: Фев. 9, 2024
IntroductionAortic root dilatation is a reported cardiovascular sequela seen in children and young people (CYP) with chronic kidney disease (CKD), but has yet to be described those Autosomal dominant polycystic (ADPKD).MethodsSingle centre, cross-sectional study dedicated ADPKD clinic. Echocardiograms were evaluated for the presence of [defined by z-score ≥2 (≥99th percentile) standard deviations from mean] at four standardised locations: aortic valve annulus, Sinuses Valsalva (SoV), sinotubular junction (STJ) ascending aorta. Measurements compared control group assess prevalence, severity determinants dilatation.Results97 children, median age [IQR] 9.3 [6.1, 13.6] years 19 controls without or other CKD. The prevalence ranged 5.2-17% ADPKD, depending on anatomical location no identified group. In multivariable regression, was strongly positively associated cyst burden annulus SoV (β= 0.42 β=0.39, both p<0.001), -0.26, p=0.02), SBP -0.20, p=0.04) LVMI STJ 0.24, p=0.02 β= 0.25, p=0.03 respectively) following adjustment age, sex, BMI z-score, eGFR, LVMI.ConclusionsOur data suggests increased CYP controls. Further studies are needed understand pathogenesis its contribution high morbidity ADPKD.
Язык: Английский
Процитировано
0Pflügers Archiv - European Journal of Physiology, Год журнала: 2024, Номер 477(3), С. 479 - 494
Опубликована: Дек. 17, 2024
Язык: Английский
Процитировано
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