Absolute negative mobility of an inertial deformable particle under steady laminar flows.

The transport behavior of an inertial deformable particle in a two-dimensional steady laminar flow is numerically analyzed under the influence of a constant force and a periodic potential. By systematically adjusting parameters such as phase difference, target area, potential height, constant force, shape parameter, diffusion coefficient, and Stokes time, we analyze the effects on particle motion and the emergence of absolute negative mobility (ANM). Our results reveal that smaller target areas and moderate potential heights maximize ANM, while increased external force and extreme diffusion or inertia reduce it.

Coenzyme Q10 supplementation in adult-onset focal segmental glomerulosclerosis caused by the Chinese common pathogenic variant c.737G > A (p.Ser246Asn) in the gene.

COQ8B nephropathy, a mitochondrial disorder caused by mutations in the gene, is a major pediatric genetic focal segmental glomerulosclerosis (GFSGS) etiology and stands out as one of the few treatable forms with good response to coenzyme Q10 (CoQ) supplementation. As the diagnosis and clinical experience of COQ8B nephropathy were predominantly in the pediatric population, the long-term efficacy of CoQ supplementation and its application in the adult-onset patients remains largely unknown. Here, we report three cases of adult-onset FSGS from unrelated families, all carrying the Chinese common  mutation (c.

Absent, Small, or Homeotic 2-Like-Mediated H3K4 Methylation and Nephrogenesis.

Key Points: Deficits in nephron numbers are associated with higher risk of adult-onset kidney disease seen in congenital anomalies of the kidney and urinary tract. Mouse model experiments suggested that absent, small, or homeotic 2-like was vital for kidney development by activating cell cycle genes through histone methylation. Our findings identified absent, small, or homeotic 2-like–regulated genes as a potential target for treating congenital anomalies of the kidney and urinary tract.

A comprehensive immune repertoire signature distinguishes pulmonary infiltration in SARS-CoV-2 Omicron variant infection.

Introduction: The coronavirus disease 2019 (COVID-19) global pandemic has been the most severe public health emergency since 2019. Currently, the Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been the most dominant. The most prominent symptom of SARS-CoV-2 infection is respiratory.

Clinical characteristics and prognosis of pregnancy-related acute kidney injury: a case series study.

Objective: Acute kidney injury (AKI) seriously affects the health of both pregnant women and fetuses. This study aimed to investigate the clinical characteristics and prognosis of pregnancy-related AKI (PR-AKI).

Methods: This case series study enrolled pregnant women with PR-AKI admitted to the surgical intensive care unit of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine between January 2010 and December 2020.

ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.

Significance Statement: Causes of congenital anomalies of the kidney and urinary tract (CAKUT) remain unclear. The authors investigated whether and how inactivation of Ash2l -which encodes a subunit of the COMPASS methyltransferase responsible for genome-wide histone H3 lysine K4 (H3K4) methylation-might contribute to CAKUT. In a mouse model, inactivation of Ash2l in the ureteric bud (UB) lineage led to CAKUT-like phenotypes.

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report.

Background: Dent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.

Case Presentation: Here we report one 11-year-old Chinese boy (proband) and one 13-year-old Chinese boy who was proband's cousin, both presented with massive proteinuria.

Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Background: Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intronic mutations which have been linked to classic and cardiac variants of FD.

Methods And Results: We report a novel hemizygous deep intronic GLA mutation (IVS4+1326C>T) in a 33-year-old Chinese man with a mild α-GalA deficiency phenotype involving isolated proteinuria and predominant globotriaosylceramide deposits in podocytes.

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.

Peroxisomal fatty acid α-oxidation is an essential pathway for the degradation of β-carbon methylated fatty acids such as phytanic acid. One enzyme in this pathway is 2-hydroxyacyl CoA lyase (HACL1), which is responsible for the cleavage of 2-hydroxyphytanoyl-CoA into pristanal and formyl-CoA. Hacl1 deficient mice do not present with a severe phenotype, unlike mice deficient in other α-oxidation enzymes such as phytanoyl-CoA hydroxylase deficiency (Refsum disease) in which neuropathy and ataxia are present.

Absolute negative mobility of active polymer chains in steady laminar flows.

We investigate the transport of active polymer chains in steady laminar flows in the presence of thermal noise and an external constant force. In the model, the polymer chain is worm-like and is propelled by active forces along its tangent vectors. Compared with inertial Brownian particles, active polymer chains in steady laminar flows exhibit richer movement patterns due to their specific spatial structures.

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.

Long continuous stretches of homozygosity (LCSH) are associated with risk of recessive disorders. Though LCSH can be detected by SNP microarrays, additional testing is necessary to clarify the clinical significance. This study is to assess the yield of additional exome sequencing (ES) after LCSH detection and inform the likelihood of eventual diagnosis.

Separation and alignment of chiral active particles in a rotational magnetic field.

We propose a method for the chiral separation and alignment of active paramagnetic particles in a two-dimensional square box with periodic boundary conditions. In a rotational magnetic field, the dynamic behavior of magnetized particles is strongly determined by the competition between the magnetic interaction and differing chirality. By suitably tailoring the parameters, active particles with different chirality can be aggregated into different clusters and separated.

Extracellular vesicle-derived circ_SLC19A1 promotes prostate cancer cell growth and invasion through the miR-497/septin 2 pathway.

The occurrence and development of prostate cancer (PCa) is complex, and the related mechanism is not fully understood. Current studies have found that extracellular vesicles (EVs) and circular RNAs (circRNAs) have important functions in various tumours and other diseases. In this study, the detection of circRNAs in PCa showed that circ_SLC19A1 was increased in PCa cells and their secreted EVs.

Circ_KATNAL1 regulates prostate cancer cell growth and invasiveness through the miR-145-3p/WISP1 pathway.

Prostate cancer (PCa) is the second leading cause of death in men, and current studies have shown that circular RNAs (circRNAs) play important roles in its occurrence and development. Detection of circRNAs in PCa cells showed that circ_KATNAL1 is down-regulated, mainly located in the cytoplasm, and contains multiple binding sites of miR-145-3p, which is an anticancer miRNA. RNA immunoprecipitation with anti-AGO2 antibody, RNA pull-down assays with biotin-labeled circ_KATNAL1 probe or an miR-145-3p mimic, and dual luciferase reporter gene assays confirmed that circ_KATNAL1 binds directly to miR-145-3p in cells, and that , which is highly expressed in many types of tumors, is an important target gene of miR-145-3p.

SPOP suppresses pancreatic cancer progression by promoting the degradation of NANOG.

Speckle-type POZ domain protein (SPOP), an adaptor in the E3 ubiquitin ligase complex, recognizes substrates and promotes protein degradation via the ubiquitin-proteasome system. It appears to help regulate progression of several cancers, and we show here that it acts as a tumor suppressor in pancreatic cancer. Our analysis of patient tissues showed decreased SPOP expression, which was associated with poor prognosis.

Survival Motor Neuron (SMN) Protein Insufficiency Exacerbates Renal Ischemia/Reperfusion Injury.

The survival of motor neuron (SMN) protein is ubiquitously involved in spliceosome assembly and ribonucleoprotein biogenesis. SMN protein is expressed in kidney and can affect cell death processes. However, the role of SMN in acute kidney injury (AKI) is largely unknown.

MiR-424 is over-expressed and attenuates ischemia-reperfusion kidney injury via p53 and death receptor 6 pathway.

Background: Ischemic reperfusion injury of kidney is major cause for renal failure, however the involved pathogenesis remains unclear creating an void for its effective treatment. Here we studied involvement of microRNA-424 in renal injury.

Methods: For the study, p53 or HIF-1α mice were used, ischemic renal injury was induced using clamping of renal pedicles bilateraly.

De novo Cardiac Valve Calcification after Hemodialysis in End-Stage Renal Disease Patients Predicts Future Cardiovascular Events: A Longitudinal Cohort Study.

Background: Cardiac valve calcification (CVC) in maintenance hemodialysis patients is associated with adverse cardiovascular outcomes. However, whether de novo CVC in incident hemodialysis patients predicts future cardiovascular events is unknown.

Methods: This study included 174 patients newly receiving hemodialysis without CVC as reflected by echocardiography between January 2005 and December 2014.

First identification of nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.

Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the gene encoding podocalyxin was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree.

Clinical and Histological Features of Phospholipase A2 Receptor-Associated and Thrombospondin Type-I Domain-containing 7A-Associated Idiopathic Membranous Nephropathy: A Single Center Retrospective Study from China.

BACKGROUND M-type phospholipase A2 receptor (PLA2R) was identified as the major target antigen in idiopathic membranous nephropathy (IMN). Another target antigen, namely thrombospondin type-1 domain-containing 7A (THSD7A), was recently detected in approximately 10% of non-PLA2R-associated IMN. In this single center retrospective study, clinical and histological features of PLA2R-associated and THSD7A-associated IMN patients were evaluated.

Impact of hemoglobin variability on cardiovascular mortality in maintenance hemodialysis patients.

Purpose: Although the association between anemia and cardiovascular mortality in hemodialysis patients is well established, whether hemoglobin variability (Hgb-Var) affects the prognosis remains unclear. We aimed to evaluate the association between Hgb-Var and cardiovascular mortality in Chinese hemodialysis patients.

Methods: This retrospective study included 252 patients starting hemodialysis in Xin Hua Hospital between January 2009 and December 2015.

Micro RNA-155 inhibitor as a potential therapeutic strategy for the treatment of acute kidney injury (AKI): a nanomedicine perspective.

In this study, we have prepared miR-155 inhibitor-loaded liposome vesicles for the effective treatment of acute kidney injury. The efficacy of liposomal miR-155 inhibitor in the expression of miR-155, mortality in animals, the expression of TNF-α-IL6, and the expression of SOCS1-STAT1 were evaluated. The loading of miR-155 inhibitor into liposomes conferred the much needed colloidal stability and efficient delivery to the renal tissues.

THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1.

Target antigens in idiopathic membranous nephropathy (MN) include the phospholipase A2 receptor (PLAR), and in some cases, the thrombospondin type 1 domain-containing 7A (THSD7A). A notable phenomenon is the high rate of cancer (reported to be as high as 20%) in patients with THSD7A-associated MN. Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots.

Inhibition of Reticulon-1A-Mediated Endoplasmic Reticulum Stress in Early AKI Attenuates Renal Fibrosis Development.

Several animal studies have shown an important role for endoplasmic reticulum (ER) stress in AKI, whereas human studies are lacking. We recently reported that Reticulon-1A (RTN1A) is a key mediator of ER stress and kidney cell injury. Here, we investigated whether modulation of RTN1A expression during AKI contributes to the progression to CKD.

miR-204 regulates epithelial-mesenchymal transition by targeting SP1 in the tubular epithelial cells after acute kidney injury induced by ischemia-reperfusion.

Acute kidney injury (AKI) is a disease where kidney function is lost almost instantaneously; it can develop very rapidly over few hours to maximum of few days. Despite the advent of technology, the clinical management against this disease is very poor, and most of the time it is life-threatening. AKI has been actively regulated by extracellular matrix proteins (ECM), however, its underlying mechanism of regulation during AKI progression is very poorly understood.