[Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy].

Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease with a carrier frequency of 1/60 ~ 1/40, is characterized by severe clinical symptoms, high mortality rate, and expensive treatment costs. Carrier screening is of paramount importance to detect high-risk couples, and therefore to reduce the occurrence of SMA. In China, SMA carrier screening has become widespread, though there is still a lack of genetic counseling expertise. This article has focused on the current challenges for SMA carrier screening, including the screening methods, target population, screening procedures, and pre-/post-testing counseling. The aim is to standardize its application and counseling in the clinical practice.

[Expert consensus on the genetic counseling for Dystrophinopathies].

Dystrophinopathies caused by variants of DMD gene are a group of muscular diseases including Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy. With the advancement of genetic testing techniques and wider implementation of genetic screening, especially the expanded carrier screening, more and more individuals carrying DMD gene variants have been identified, whereas the genetic counseling capacity is relatively insufficient. Currently there is still a lack of professional norms for genetic counseling on dystrophinopathies. In this consensus, the main points to be covered in the pre- and post-test consultation have been discussed, with an aim to provide genetic counseling guidance for the disease diagnosis, treatment, and family reproduction.

Microbial Etiology, Antimicrobial Resistance, and Risk Factors of Surgical Site Infections in Gestational Diabetes Mellitus Patients Undergoing Elective Pre-Labor Cesarean Deliveries.

Background: Gestational Diabetes Mellitus (GDM) significantly increases the risk of adverse pregnancy outcomes, including elective pre-labor cesarean deliveries. Postoperative surgical site infections (SSIs) pose a significant concern, underscoring the need for a detailed investigation into their causes and preventative measures. The aim of this study is to systematically identify and analyze the microbial etiology and antimicrobial resistance profiles of pathogens responsible for SSIs in GDM patients undergoing elective pre-labor cesarean deliveries. Additionally, this research aims to elucidate the risk factors contributing to SSIs, with a specific focus on operation duration, amniotic fluid contamination, and genital tract inflammation, and their correlation with the incidence of SSIs. Methods: A retrospective analysis was conducted at our Hospital between September 2018 and July 2023, involving 150 GDM patients who underwent elective pre-labor cesarean deliveries. Patients were categorized into infected and uninfected groups based on postoperative SSIs. Clinical data were meticulously collected and analyzed using SPSS software (version 27.0). Independent sample t-tests and chi-square tests were employed for statistical analysis. Results: Microbial profiling revealed that Gram-negative bacteria, primarily E. coli, constituted approximately 59.46% of the isolated strains, exhibiting significant resistance to commonly used antibiotics such as ampicillin and cefotaxime. Elevated levels of biomarkers, including Procalcitonin (PCT) and Hemoglobin A1c (HbA1c), were significantly associated with SSIs. Multivariate logistic regression analysis identified operation time ≥1-hour, amniotic fluid contamination, and genital tract inflammation as significant risk factors. Conclusion: This study highlights the microbial etiology, resistance patterns, and risk factors for SSIs in GDM cesarean patients, emphasizing the need for tailored preoperative evaluations.

The Regulatory Effect of Huangshui Polysaccharides on Intestinal Microbiota and Metabolites during In Vitro Fermentation.

Huangshui polysaccharides (HSPs) have attracted extensive attention recently for their biological activity and physicochemical property. This research investigated the extraction, structural characterization, and prebiotic activity of three different HSPs (HSP40-0, HSP60-0, and HSP80-0) in vitro to reveal the scientific support for the high-value utilization of Huangshui. HSPs were heteropolysaccharide with diverse structures and surface morphologies. Comprehensive analysis was conducted through 16S rRNA gene sequencing and metabolite profiling techniques, and results showed that HSPs had different potentials to regulate the gut microbiota due to their different structures; for instance, both HSP40-0 and HSP80-0 could notably increase the relative abundance of Bacteroidota, whereas HSP60-0 could increase the relative abundance of Phascolarctobacterium. In addition, HSPs upregulated beneficial differential metabolites, especially short-chain fatty acids (SCFAs). Fermentation products containing these metabolites exhibited anti-inflammatory effects on LPS-treated Caco-2 cells. This study will provide reference for exploring the relationship between the natural polysaccharide structure and the prebiotic activity and widen the application of Huangshui.

MAFLD-related hepatocellular carcinoma: Exploring the potent combination of immunotherapy and molecular targeted therapy.

Hepatocellular carcinoma (HCC) is a common cause of cancer-related mortality and morbidity globally, and with the prevalence of metabolic-related diseases, the incidence of metabolic dysfunction-associated fatty liver disease (MAFLD) related hepatocellular carcinoma (MAFLD-HCC) continues to rise with the limited efficacy of conventional treatments, which has created a major challenge for HCC surveillance. Immune checkpoint inhibitors (ICIs) and molecularly targeted drugs offer new hope for advanced MAFLD-HCC, but the evidence for the use of both types of therapy in this type of tumour is still insufficient. Theoretically, the combination of immunotherapy, which awakens the body's anti-tumour immunity, and targeted therapies, which directly block key molecular events driving malignant progression in HCC, is expected to produce synergistic effects. In this review, we will discuss the progress of immunotherapy and molecular targeted therapy in MAFLD-HCC and look forward to the opportunities and challenges of the combination therapy.

The Prebiotic Activity of a Novel Polysaccharide Extracted from Huangshui by Fecal Fermentation In Vitro.

A novel polysaccharide, HSP80-2, with an average molecular weight of 13.8 kDa, was successfully isolated by the gradient ethanol precipitation (GEP) method from Huangshui (HS), the by-product of Chinese Baijiu. It was mainly composed of arabinose, xylose, and glucose with a molar ratio of 4.0:3.1:2.4, which was completely different from the previous reported HS polysaccharides (HSPs). Morphological observations indicated that HSP80-2 exhibited a smooth but uneven fragmented structure. Moreover, HSP80-2 exerted prebiotic activity evaluated by in vitro fermentation. Specifically, HSP80-2 was utilized by gut microbiota, and significantly regulated the composition and abundance of beneficial microbiota such as Phascolarctobacterium, Parabacteroides, and Bacteroides. Notably, KEGG pathway enrichment analysis illustrated that HSP80-2 enriched the pathways of amino sugar and nucleotide sugar metabolism (Ko00520), galactose metabolism (ko00052), and the citrate cycle (TCA cycle) (ko00020). Meanwhile, the contents of short-chain fatty acids (SCFAs) mainly including acetic acid, propionic acid, and butyric acid in the HSP80-2 group were remarkably increased, which was closely associated with the growth of Lachnoclostridium and Parabacteroides. These results showed that HSP80-2 might be used as a potential functional factor to promote human gut health, which further extended the high value utilization of HS.