Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases

BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.

Recent Advancements in Intestinal Microbiota Analyses:A Review for Non-Microbiologists

Microbial constituents naturally inhabiting the gastrointestinal tract may influence the homeostasis of the gut environment.The presence or overabundance of some bacterial taxa has been reported to be associated with complex diseases,and the metabolites of certain bacteria may contribute to diverse disorders by influencing signaling pathways.Therefore,the study of gut microbial population has emerged as a crucial field and a new potential area of clinical significance. Advances in the methods of microbiota analysis have shed light upon the details including species diversity,microfloral activities as well as the entire gut microbiota.Nevertheless,comprehensive reviews on this subject are still limited.For elucidating the appropriate selection strategy of the methods to address a particular research question,we comprehensively reviewed the continuously improving technologies,classical to newly developed,and dissected their relative advantages and drawbacks.In addition,aiming at the rapidly advancing next-generation sequencing,we enumerated the improvements in mainstream platforms and made the horizontal and vertical comparison among them.Additionally,we demonstrated the four main-omics methods,which may provide further mechanistic insights into the role of microbiota,to propel phylotyping analysis to functional analysis.

High-performance non-enzymatic glucose sensor based on Co_(3)O_(4)/rGO nanohybrid

There has been substantial interest in designing and fabricating electrochemical non-enzyme sensors for glucose detection with a focus on the nanocomposites used between metal oxide and the two-dimensional material.In this work,Co_(3)O_(4)/reduced graphene oxide(rGO)nanocomposite was obtained and used as a modified electrochemical electrode for the detection of trace glucose.According to the results,the electrocatalytic performances of Co_(3)O_(4)nanoparticles for the oxidation of glucose were substantially enhanced with the addition of a small amount of r GO.Specifically,the Co_(3)O_(4)/r GO modified electrode exhibited a sensitivity of 82μA·mmol^(-1)·cm^(-2),a detection limit of 50μmol·L^(-1)(signal noise ratio(S/N)=3),and a fast response time of about 1 s under optimal conditions.The enhanced performances of the Co_(3)O_(4)/r GO modified electrode are attributable to the high absorption oxygen(O_(Ads))and synergistic effect between Co_(3)O_(4)and r GO.The results indicate that Co_(3)O_(4)/r GO nanocomposite is a promising candidate for being used as the active material in real-world electrochemical biosensors.