Identification and bioinformatics analysis of genes associated with pyroptosis in spinal cord injury of rat and mouse.

The mechanism of spinal cord injury (SCI) is highly complex, and an increasing number of studies have indicated the involvement of pyroptosis in the physiological and pathological processes of secondary SCI. However, there is limited bioinformatics research on pyroptosis-related genes (PRGs) in SCI. This study aims to identify and validate differentially expressed PRGs in the GEO database, perform bioinformatics analysis, and construct regulatory networks to explore potential regulatory mechanisms and therapeutic targets for SCI.

Double filtration plasmapheresis for children with different types of critical kidney diseases: a single-center retrospective cohort study.

Background: Double filtration plasmapheresis (DFPP) was initially used to facilitate the conduction of ABO-incompatible renal transplantation. The applicability of DFPP has recently expanded to cover the removal of various antibodies in adults with immune-mediated diseases. However, DFPP is seldom used in children, with few reports addressing its efficacy and safety in this population.

The top 100 most-cited articles on adult spinal deformity: The most popular topics are still sagittal plane parameters and complications.

Purpose: This study aimed to summarize the characteristics of the 100 most-cited articles on adult spinal deformity (ASD) and to analyze past and current research hotspots and trends.

Methods: Literature searches (from inception to 28 April 2022) using Web of Science databases were conducted to identify ASD-related articles. The top 100 most-cited articles were collected for further analysis.

Case Report: Successful Treatment of Refractory Interstitial Lung Disease With Cyclosporine A and Pirfenidone in a Child With SLE.

Interstitial lung disease (ILD) as an initial manifestation of lupus is rare, especially in young children. Here, we report a case of a 3-year-old boy who presented with fever, shortness of breath, and facial erythema. Clinical examination suggested a diagnosis of active systemic lupus erythematosus (SLE) with butterfly rash, anemia, positive antinuclear antibody, positive anti-double-stranded DNA, and hypocomplementemia.

A Presumed Synonymous Mutation of PKD2 Caused Autosomal Dominant Polycystic Kidney Disease in a Chinese Family.

Objective: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by the pathogenic mutation of PKD1 or PKD2 gene and usually affects bilateral kidneys. Synonymous mutations are generally assumed to be neutral as they do not alter amino acids. Herein, we described an extremely rare ADPKD child caused by a heterozygous synonymous mutation of PKD2 gene accompanied by massive proteinuria and congenital solitary kidney.

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.

Background: Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at chromosome Xq26.1), which encodes an inositol polyphosphate 5-phosphatase.