A Supramolecular Deferoxamine-Crisaborole Nanoparticle Targets Ferroptosis, Inflammation, and Oxidative Stress in the Treatment of Retinal Ischemia/Reperfusion Injury.

Retinal ischemia-reperfusion (IR) injury is a major cause of vision loss worldwide, with ferroptosis, oxidative stress, and inflammation playing key roles in its pathogenesis. Currently, treatments targeting multiple aspects of this condition are limited. This study introduces a supramolecular nanoparticle combining the phosphodiesterase 4 (PDE4) inhibitor crisaborole and the ferroptosis inhibitor deferoxamine to address these pathological processes.

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Background: The growing body of research on kidney disease in children has identified a broad spectrum of genetic etiologies.

Methods: We conducted a prospective study to evaluate the efficacy of an optimized genetic test and subclinical changes in a real-world context before kidney transplantation. All cases involved recipients under the age of 18 who underwent whole exome sequencing (ES) between 2013 and 2022.

Evaluating the effectiveness of large language models in patient education for conjunctivitis.

Aims: To evaluate the quality of responses from large language models (LLMs) to patient-generated conjunctivitis questions.

Methods: A two-phase, cross-sectional study was conducted at the Eye and ENT Hospital of Fudan University. In phase 1, four LLMs (GPT-4, Qwen, Baichuan 2 and PaLM 2) responded to 22 frequently asked conjunctivitis questions.

Benchmarking four large language models' performance of addressing Chinese patients' inquiries about dry eye disease: A two-phase study.

Purpose: To evaluate the performance of four large language models (LLMs)-GPT-4, PaLM 2, Qwen, and Baichuan 2-in generating responses to inquiries from Chinese patients about dry eye disease (DED).

Design: Two-phase study, including a cross-sectional test in the first phase and a real-world clinical assessment in the second phase.

Subjects: Eight board-certified ophthalmologists and 46 patients with DED.

Establishment of human corneal epithelial organoids for ex vivo modelling dry eye disease.

Dry eye disease (DED) is a growing public health concern affecting millions of people worldwide and causing ocular discomfort and visual disturbance. Developing its therapeutic drugs based on animal models suffer from interspecies differences and poor prediction of human trials. Here, we established long-term 3D human corneal epithelial organoids, which recapitulated the cell lineages and gene expression signature of the human corneal epithelium.

Development and multi-institutional validation of a deep learning model for grading of vesicoureteral reflux on voiding cystourethrogram: a retrospective multicenter study.

Background: Voiding cystourethrography (VCUG) is the gold standard for the diagnosis and grading of vesicoureteral reflux (VUR). However, VUR grading from voiding cystourethrograms is highly subjective with low reliability. This study aimed to develop a deep learning model to improve reliability for VUR grading on VCUG and compare its performance to that of clinicians.

Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.

Nephronophthisis-like nephropathy-1 (NPHPL1) is a rare ciliopathy, caused by mutations of . Despite a well-described monogenic etiology, the pathogenesis of XPNPEP3 associated with mitochondrial and ciliary function remains elusive. Here, we identified novel compound heterozygous mutations in NPHPL1 patients with renal lesion only or with extra bone cysts together.

A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.

Patients with DEX (deficiency in ELF4, X-linked) were recently reported by our team and others, and cases are very limited worldwide. Our knowledge of this new disease is currently preliminary. In this study, we described 5 more cases presenting mainly with oral ulcer, inflammatory bowel disease-like symptoms, fever of unknown origin, anemia, or systemic lupus erythematosus.

Comparative proteomic analysis of children FSGS FFPE tissues.

Background: In children, focal segmental glomerulosclerosis (FSGS) is the main cause of steroid resistant nephrotic syndrome (SRNS). To identify specific candidates and the mechanism of steroid resistance, we examined the formalin-fixed paraffin embedded (FFPE) renal tissue protein profiles via liquid chromatography tandem mass spectrometry (LC-MS/MS).

Methods: Renal biopsies from seven steroid-sensitive (SS) and eleven steroid-resistant (SR) children FSGS patients were obtained.

Anti-ANGPTL3-FLD monoclonal antibody treatment ameliorates podocyte lesions through attenuating mitochondrial damage.

Proteinuria, an indication of kidney disease, is caused by the malfunction of podocytes, which play a key role in maintaining glomerular filtration. Angiopoietin-like 3 (ANGPTL3) has been documented to have a cell-autonomous involvement in podocytes, and deletion of Angptl3 in podocytes reduced proteinuria in adriamycin-induced nephropathy. Here, we developed a monoclonal antibody (mAb) against ANGPTL3 to investigate its effects on podocyte injury in an ADR nephropathy mouse model and puromycin (PAN) induced podocyte damage in vitro.

Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.

Background: Genetic kidney disease is a major cause of morbidity and mortality in neonates and end-stage renal disease (ESRD) in children and adolescents. Genetic diagnosis provides key information for early identification of congenital kidney disease and reproductive risk counseling. Preimplantation genetic testing for monogenic disease (PGT-M) as a reproductive technology helps prospective parents to prevent passing on disease-causing mutations to their offspring.

Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia.

Inherited kidney diseases are the fifth most common cause of end-stage renal disease (ESRD). Mitochondrial dysfunction plays a vital role in the progression of inherited kidney diseases, while mitochondrial-transfer RNA (mt-tRNA) variants and their pathogenic contributions to kidney disease remain largely unclear. In this study, we identified the pathogenic mt-tRNAPhe 616T>C mutation in 3 families and documented that m.

The important roles and molecular mechanisms of annexin A autoantibody in children with nephrotic syndrome.

Background: In recent years, B-cell dysfunction has been found to play an important role in the pathogenesis of primary nephrotic syndrome (PNS). B cells play a pathogenic role by secreting antibodies against their target antigens after transforming into plasma cells. Therefore, this study aimed to screen the autoantibodies that cause PNS and explore their pathogenic mechanisms.

Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.

Background: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to define the phenotypic spectrum associated with genotype.

Methods: We collected the phenotypes in patients enrolled in the China national multicenter registry who were diagnosed with pathogenic variant in PAX2 and reviewed all published cases with PAX2-related disorders.

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. We utilized a multicenter strategy to investigate the genotype and phenotype in a cohort of Chinese children clinically diagnosed with NDI from 2014 to 2019. Ten boys from nine families were identified with mutations in or along with dehydration, polyuria-polydipsia, and severe hypernatremia.

Exploration of the Optimal Desmopressin Treatment in Children With Monosymptomatic Nocturnal Enuresis: Evidence From a Chinese Cohort.

Nocturnal enuresis (NE) is a common pediatric condition, and desmopressin (dDAVP) is a first-line therapy for NE. The standard initial dosage of dDAVP is 0. 2 mg/day, and most guidelines recommend that the dose should be increased at 0.

Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort.

Background: WT1 mutations cause a wide spectrum of renal and extrarenal manifestations concerning urogenital development and the development of tumors.

Methods: We retrospectively collected the information on the genotype and phenotype of WT1 nephropathy from the multicenter registry since 2014 to 2019. All patients were stratified by renal function decline status or by sequence timing.

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review.

Background: Psoriasis is a chronic inflammatory dermatosis with complex genetic basis supported by family investigation. Renal involvement in psoriasis is sparsely studied and its pathogenesis is still unclear.

Methods And Results: We describe the case of a 7-year-old boy presented new onset of nephropathy two weeks after a flare-up of psoriasis.

COQ8B nephropathy: Early detection and optimal treatment.

Background: Mutations in COQ8B (*615567) as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS).

Methods: To define the clinical course and prognosis of COQ8B nephropathy, we retrospectively assessed the genotype and phenotype in patients with COQ8B mutations from Chinese Children Genetic Kidney Disease Database. We performed the comparing study of renal outcome following CoQ10 treatment and renal transplantation between early genetic detection and delayed genetic detection group.

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.

To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease.