Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Background: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the gene, which is essential for the sialic acid biosynthesis pathway.

Objective: This multi-centre study aimed to delineate the clinical phenotype and variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations.

Methods: We retrospectively analysed variants from 113 patients, integrating these data with external variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity.

A chitosan-based light-curing hydrogel dressing for accelerated healing of infected wounds.

Bacterial infections, excessive reactive oxygen species (ROS) accumulation and a persistent inflammatory response severely impede the wound healing process. In this study, we developed a novel multifunctional hydrogel dressing (LCPN) based on lipoic acid modified chitosan (LAMC), polypyrrole nanoparticles (PPy NPs) and nicotinamide mononucleotide (NMN) for accelerated healing of infected wounds. The synthesized LCPN hydrogel has several properties.

Prognostic role of the stromal cell derived factor-1 in patients with hepatitis B virus-related acute-on-chronic liver failure.

Background: Stromal cell derived factor-1 (SDF-1) plays a pivotal role in the recruitment of stem cells to injured livers. However, the changes of SDF-l in patients with hepatitis B virus (HBV)-related acute-on-chronic liver failure (ACLF) have yet to be elucidated.

Aim: To study the SDF-1 changes in patients with HBV-related ACLF.

OH2 oncolytic virus: A novel approach to glioblastoma intervention through direct targeting of tumor cells and augmentation of anti-tumor immune responses.

Glioblastoma (GBM), the deadliest central nervous system cancer, presents a poor prognosis and scant therapeutic options. Our research spotlights OH2, an oncolytic viral therapy derived from herpes simplex virus 2 (HSV-2), which demonstrates substantial antitumor activity and favorable tolerance in GBM. The extraordinary efficacy of OH2 emanates from its unique mechanisms: it selectively targets tumor cells replication, powerfully induces cytotoxic DNA damage stress, and kindles anti-tumor immune responses.

[Research progress on biomechanics for internal fixation in tibial plateau fracture].

Objective: To review the biomechanical research progress of internal fixation of tibial plateau fracture in recent years and provide a reference for the selection of internal fixation in clinic.

Methods: The literature related to the biomechanical research of internal fixation of tibial plateau fracture at home and abroad was extensively reviewed, and the biomechanical characteristics of the internal fixation mode and position as well as the biomechanical characteristics of different internal fixators, such as screws, plates, and intramedullary nails were summarized and analyzed.

Results: Tibial plateau fracture is one of the common types of knee fractures.

Application of machine learning standardized integral area algorithm in measuring the scoliosis.

This study was to develop a computer vision evaluation method to automatically measure the degree of scoliosis based on the machine learning algorithm. For the X-ray images of 204 patients with idiopathic scoliosis who underwent full-spine radiography, histogram equalization of original image was performed before a flipping method was used to magnify asymmetric elements, search for the global maximum pixel value in each line, and scan local maximal pixel value, with the intersection set of two point sets being regarded as candidate anchor points. All fine anchors were fitted with cubic spline algorithm to obtain the approximate curve of the spine, and the degree of scoliosis was measured by the standardized integral area.

[Effect of deep needling "Tianshu" (ST25) on colonic motility in rats with slow transit constipation].

Objective: To observe the effect of acupuncture of "Tianshu"(ST25) at different depths on colonic transportation function, expressions of colonic substance P (SP) and interstitial cells of Cajal (ICC) in rats with slow transit constipation (STC), so as to explore its mechanisms underlying improvement of STC．.

Methods: Fifty male Wistar rats were selected and randomly divided into control，STC model，conventional acupuncture，deep needling group 1 and deep needling group 2 groups，with 10 rats in each group．The STC model was established by gavage of 1 mg/mL compound diphenoxylate suspension (10 mg/kg), once every other day for 21 days, and rats of the control group were given the same dose of distilled water by gavage．EA (2 Hz, 2 mA) was applied to "Tianshu"(ST25), with the acupuncture needle inserted to a depth of 3 mm for rats of the conventional acupuncture group, 4.5 mm for those of deep needling group 1, and 10 mm for those of the deep needling group 2.

[Effects of electroacupuncture pretreatment on long-term postoperative cognitive dysfunction and neuron-inflammation in aged rats].

Objective: To observe the effects of electroacupuncture pretreatment on postoperative cognitive dysfunction (POCD), neuronal apoptosis and neuron-inflammation in aged rats.

Methods: Thirty-six male SD rats aged 20 months were randomly divided into sham operation group, model group and electroacupuncture (EA) group, with 12 rats in each group. The POCD rats model was prepared by internal fixation of left tibial fracture.

Neurosarcomatous amelanotic transformation of malignant melanoma presenting as malignant periopheral nerve sheath tumor: Rare case report.

Rationale: Malignant melanoma (MM) is notorious for its remarkable morphological variation and aberrant histopathological patterns. In addition, Malignant Periopheral Nerve Sheath Tumor (MPNST) is an uncommon but aggressive soft tissue sarcoma. Because of the common embryological origin of melanocytes and Schwann cells in the neural crest, discriminating between a particular type of MM and MPNST can be difficult, particularly when they are amelanotic.

Circ_0010235 confers cisplatin resistance in lung cancer by upregulating E2F7 through absorbing miR-379-5p.

Background: Cisplatin (DDP) treatment is one of the most predominant chemotherapeutic strategies for lung cancer patients. Circular RNAs (circRNAs) have been revealed to participate in the chemoresistance in lung cancer. Hence, the role and mechanism of circ_0010235 in cisplatin resistance in lung cancer was investigated.

Integrated analysis to identify the prognostic and immunotherapeutic roles of coagulation-associated gene signature in clear cell renal cell carcinoma.

The coagulation system is closely related to the physiological status and immune response of the body. Recent years, studies focusing on the association between coagulation system abnormalities and tumor progression have been widely reported. In clear cell renal cell carcinoma (ccRCC), poor prognosis often occurs in patients with venous tumor thrombosis and coagulation system abnormalities, and there is a lack of research in related fields.

[New recognition of portal vein thrombosis mechanism and treatment in cirrhosis].

Portal vein thrombosis (PVT) is one of the common complications of cirrhosis, which induces or aggravates ascites and upper gastrointestinal bleeding and even impacts the difficulty of liver transplantation by raising portal pressure, hence deteriorating the prognosis of patients. With the revelation of PVT-related research findings in recent years, the recognition of its mechanism and clinical risks has deepened. This article reviews the latest progress in PVT formation mechanisms and treatment strategies to improve clinicians' recognition of the pathogenesis and aid in formulating reasonable prevention and treatment.

CircSYNDIG1 ameliorates stress-induced abnormal behaviors by suppressing miR-344-5p in mice.

Circular RNA (circRNA) plays an important role in diverse stress-related neuropsychiatric disorders like depression, anxiety and cognitive disorders. Here, using a circRNA microarray, we found that circSYNDIG1, an unreported circRNA, was significantly downregulated in the hippocampus of chronic unpredictable mild stress (CUMS) mice and further validated this finding in corticosterone (CORT) and lipopolysaccharide (LPS) mice by qRT-PCR, and it was negatively correlated with depressive- and anxiety-like behaviors of these three stressed mice. Furthermore, the interaction of miR-344-5p and circSYNDIG1 was confirmed by in situ hybridization (FISH) assay in hippocampus and dual luciferase reporter assay in 293 T cells.

Antipsychotic exposure is an independent risk factor for breast cancer: A systematic review of epidemiological evidence.

Background: The effect of antipsychotics on breast cancer remains controversial.

Materials And Methods: Embase, Scopus, PubMed, Web of Science, Cochrane Library, and Hebei Medical University Library were used for the literature search. Observational studies with original data for the effects of antipsychotics on breast cancer were used.