Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.

Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.

Evaluation of the efficacy of natural orifice specimen extraction surgery versus conventional laparoscopic surgery for colorectal cancers: A systematic review and meta-analysis.

Aim: Natural orifice specimen extraction surgery (NOSES) has gained significant importance in treating cancers. The current study is a meta-analysis that aimed to assess the short-term efficacy and long-term prognostic impact of NOSES and conventional laparoscopic (CL) surgery in the treatment of colorectal cancer (CRC).

Method: Published reports in several medical databases up to February 2024 were searched and information pertinent to outcomes of NOSES and CL in retrospective and randomized studies to treat CRC was collected.

Mitochondrial damage causes inflammation via cGAS-STING signaling in ketamine-induced cystitis.

Background: Mitochondrial dysfunction and damage can result in the release of mitochondrial DNA (mtDNA) into the cytoplasm, which subsequently activates the cGAS-STING pathway, promoting the onset of inflammatory diseases. Various factors, such as oxidative stress, viral infection, and drug toxicity, have been identified as inducers of mitochondrial damage. This study aims to investigate the role of mtDNA as a critical inflammatory mediator in the pathogenesis of ketamine (KET)-induced cystitis (KC) through the cGAS-STING pathway.

Self-Healing Flexible Fiber Optic Sensors for Safe Underwater Monitoring.

The advancement of underwater monitoring technologies has been significantly hampered by the limitations of traditional electrical sensors, particularly in the presence of electromagnetic interference and safety concerns in aquatic environments. Fiber optic sensors are therefore nowadays widely applied to underwater monitoring devices. However, silicon- and polymer-based optical fibers often face challenges, such as rigidity, susceptibility to environmental stress, and limited operational flexibility.

Quaternized chitosan templated MoS nanohybrids for photothermal-enhanced synergistic antibacterial therapy.

Bacterial infections have become a fatal issue for human health. The excessive use of antibiotics leads to bacterial resistance. It is of great importance to develop alternate antimicrobial nanomaterials for effective antibacterial therapy.