Pathogens, including bacteria, viruses, and fungi, can cause infections and inflammatory responses when invading the human body, posing life-threatening risks in severe cases. Pathogen culturing is considered the gold standard for diagnosing infections, but its time-consuming nature hampers early clinical diagnosis. Polymerase chain reaction offers high sensitivity and specificity but can result in false-negative outcomes. Nanopore sequencing, which features real-time sequencing while unwinding the DNA strands, allows for direct sequencing and immediate analysis. In viral detection, it rapidly obtains pathogen genomes and identifies genetic variations. Direct sequencing of the 16S ribosomal RNA in bacteria and the internal transcribed spacer sequences in fungi enables early diagnosis. It can also detect bacterial resistance, guiding clinical doctors in selecting appropriate antibiotics. Additionally, rapid pathogen detection can be achieved in vector-borne diseases and rare diseases. With advancements in technologies such as deep learning, nanopore sequencing technology is expected to become a powerful tool for early diagnosis of infectious pathogens.

Pathogens, including bacteria, viruses, and fungi, can cause infections and inflammatory responses when invading the human body, posing life-threatening risks in severe cases. Pathogen culturing is considered the gold standard for diagnosing infections, but its time-consuming nature hampers early clinical diagnosis. Polymerase chain reaction offers high sensitivity and specificity but can result in false-negative outcomes. Nanopore sequencing, which features real-time sequencing while unwinding the DNA strands, allows for direct sequencing and immediate analysis. In viral detection, it rapidly obtains pathogen genomes and identifies genetic variations. Direct sequencing of the 16S ribosomal RNA in bacteria and the internal transcribed spacer sequences in fungi enables early diagnosis. It can also detect bacterial resistance, guiding clinical doctors in selecting appropriate antibiotics. Additionally, rapid pathogen detection can be achieved in vector-borne diseases and rare diseases. With advancements in technologies such as deep learning, nanopore sequencing technology is expected to become a powerful tool for early diagnosis of infectious pathogens.

Exosomes are nanoscale extracellular vesicle structures that communicate and exchange information between cells. They carry a variety of biologically active molecules whose compositions and contents vary according to the origin and recipient cells. Therefore, exosomes can be used as biomarkers. Neurodegenerative diseases are diseases with hidden onset, so early screening and accurate diagnosis is undoubtedly a reliable guarantee to reduce their mortality and increase the cure rate. Exosomes, as a research hotspot in recent years, have great potential for the diagnosis and treatment of diseases given their transport capacity and contents, and have significant advantages in abundance, stability, diversity and accessibility. The purpose of this paper is to discuss exosomes as potential candidates for early diagnosis of neurodegenerative diseases, and thus to elaborate new fields of their application, with a view to providing a richer perspective for clinical prediction and treatment.

Diabetic nephropathy (DN) is a microvascular complication caused by diabetes mellitus, which often leads to structural and functional damages of several kidney cell types, and has become an important cause of chronic kidney disease and end-stage renal disease. Connexins are involved in maintaining cell function and tissue homeostasis in various organs by forming semi-channels and mediating gap-junctional intercellular communication. Connexin 43 (Cx43) is the most abundant and widely studied connexin in kidney. Accumulating evidences have shown that Cx43 is involved in the pathological process associated with glomerular mesangial cells, podocytes and renal tubular epithelial cells during the development of DN. However, the molecular mechanism of Cx43 in regulating kidney cell homeostasis of DN is still unclear. The paper systematically reviews the relationship between Cx43 and pathogenesis of DN from the perspective of signaling pathway regulation, and explores the therapeutic potential of targeting Cx43 in the intervention of DN.

Idiopathic Pulmonary Fibrosis is a chronic interstitial lung disease of unknown etiology with a short survival period, poor prognosis, and difficult to completely cure. At present, the main diagnostic method of IPF is High Resolution CT (HRCT), which has the disadvantage of high subjective impact and low repeatability. Therefore, it is necessary to develop novel biomarkers to aid in the diagnosis and prognosis of IPF. In recent years, more and more studies have focused on exosomes, whose specific regulatory mechanisms for IPF have not been fully elucidated, although it has been extensively studied in the field of malignant tamors and cardiovascular disease. In addition, exosomes can be secreted by different cells and body fluids, having potential applications in suggesting IPF risk and diagnostic prognosis.

OBJECTIVE: To explore the coagulation deficit and genetic basis for a Chinese pedigree affected with Congenital dysfibrinogenemia (CD). METHODS: Peripheral venous blood samples of the proband and her family members (including 4 individuals from three generations) were subjected to routine blood test and assays of liver and kidney functions and viral hepatitis to exclude related diseases. Clauss method and DFg-PT method were used to determine the fibrinogen activity (Fg:C), and an immunoturbidimetric assay was used to determine the level of fibrinogen antigen (Fg:Ag). All of the exons (22 in total) and their flanking sequences of the FGA, FGB and FGG genes were amplified by PCR and directly sequenced. Variants in the coding regions of the three genes and transcriptional splicing sites were screened by using Mutation Surveyor^TM software. RESULTS: The Clauss method showed that Fg:C was significantly reduced in the proband and her father, whilst her mother and son were normal. With the DFg-PT method, the proband, her parents and son were all within the normal range. The Fg:C/Fg:Ag ratio of the proband and her father was lower than 0.7, whilst her mother and son were above 0.7. No significant change in the prothrombin time, activated partial thromboplastin clotting time and thrombin time was noted. Two genetic variants were detected, which included a homozygous missense variant in the FGA gene [c.991A>G (p.Thr331Ala)], which was predicted to be benign, and a heterozygous missense variant of the γ chain of the FGG gene [c.1211C>G (p.Ser404Phe)], which is located in a conserved region and unreported in the CLINVAR/HGMD/EXAC/1000G databases and literature. CONCLUSION This pedigree has conformed to the autosomal dominant inheritance of CD. The c.1211C>T (p.Ser404Phe) missense variant of the γ chain of the FGG gene probably underlay the pathogenesis of CD in this pedigree. The variant was unreported previously and named as "Fibrinogen Harbin II Ser404Phe".
Female ; Humans ; Afibrinogenemia/congenital* ; East Asian People ; Fibrinogen/genetics* ; Mothers ; Mutation ; Pedigree

Cyperi Rhizoma is a common Chinese medicine in clinical practice， which has a long history of processing. In order to sort out the process of its processing， starting with the angle of processing excipients， the historical evolution and developmental venation of Cyperi Rhizoma processing were analyzed and summarized by consulting relevant literature of ancient medical records and modern codes. After combing the ancient and modern literature， it was found that there were many processing methods of Cyperi Rhizoma， the processing methods without auxiliary materials included frying， boiling， steaming and so on， and the adding auxiliary materials included vinegar， ginger， salt， multiple excipients， etc. However， with the evolution of history， some characteristic excipients have gradually disappeared， while vinegar-processed products are mainly used in modern times. Meanwhile， processing methods of Cyperi Rhizoma are well documented in various processing standards， the phenomenon of multiple methods adopted in one place and different methods in different places exists， which lacks unified quality standards and leads to uneven quality of Cyperi Rhizoma decoction pieces， which may even affect the safety and effectiveness of its clinical medication. Based on this， the problems existing in the processing research of Cyperi Rhizoma were analyzed in this paper， and made an outlook on the inheritance of the ancient processing methods and the quality standard improvement of the decoction pieces， in order to provide important literature evidence and theoretical support for the study of processing process and mechanism of Cyperi Rhizoma.

Objective:To preliminarily explore the association between single nucleotide polymorphisms (SNP) of five candidate genes (APH1B, PRNP, HMGCR, SIRT1, ApoE) and Alzheimer′s disease (AD), and to analyze the methylation levels of BAX and ApoE promoters on the pathogenesis of AD.Methods:Seventeen cases who were admitted to the Department of Geriatrics of the First Affiliated Hospital of Xinjiang Medical University from 2014 to 2015 and diagnosed as likely to be AD by geriatrician and neurologists according to the AD diagnostic criteria in 4th Revised Edition of the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association served AD group, with an age of (75.65±5.86) years, and 34 non-AD patients with matching baseline data such as age, gender, ethnicity, and education status among patients hospitalized during the same period were selected as control group, with an age of (77.59±7.41) years. Sanger sequencing method was used for SNP typing of candidate genes. Methylation-specific polymerase chain reaction was used to determine the DNA methylation level.Results:The distribution of ApoE ε4 allele was statistically different between the AD group and the control group (χ 2=9.718, P=0.002). Candidate genes (SIRT1 rs7895833, APH1B rs1047552, PRNP rs1799990, HMGCR rs3846662) SNP locus genotypes and alleles had no statistically significant differences in the distribution between the AD group and the control group ( P>0.05). After stratification according to whether they carried ApoE ε4, no statistically significant difference was found between the two groups ( P>0.05). The BAX promoter methylation level of the AD group (0.045±0.025) was lower than that of the control group (0.061±0.028) ( t=-2.078, P=0.045). After gender stratification, the BAX methylation level of the female AD group (0.044±0.021) was lower than that of the control group (0.065±0.275) ( t=-2.230, P=0.045). There was no statistically significant difference in the methylation level of ApoE promoter between the AD group and the control group ( P>0.05). After stratification according to whether they carry ApoE ε4 or not, the methylation level of AD patients with ApoE ε4 allele (1.553±0.291) was higher than that of non-carriers (1.221±0.261) ( t=2.480, P=0.025). Conclusions:ApoE ε4 allele may be a risk factor for the onset of AD. BAX promoter hypomethylation contributes to AD in the elderly in Xinjiang, especially in female. ApoE ε4 allele may cause AD through the interaction with ApoE methylation.

Objective:This study aims to investigate the prevalence and distribution characteristics of mental disorders among people aged 18 and above in Shandong Province.Methods:In 2015, an epidemiological survey was carried out to investigate the patterns of mental disorders in 49 counties of Shandong Province. A total of 28 000 individuals aged 18 years or older were selected using the multistage stratified cluster sampling method. All these participants were classified as at a high or low risk of mental disorders according to the assessment results of the revised version of the General Health Questionnaire (GHQ). The diagnosis of mental disorders was confirmed using the Structured Clinical Interview for Diagnostic and Statistical Manual, Forth edition (DSM-Ⅳ) axis I or MMSE. All participants at high risk of mental disorders were evaluated using DSM-Ⅳ or MMSE to confirm the psychiatric diagnoses, while 10% of participants at low risk of mental disorders were randomly selected to be evaluated. The prevalence and its 95% confidence interval of mental disorders were adjusted according to study design and sociodemographic characteristics of the sample. The between-group differences of prevalence were compared using chi-square tests or Fisher′s exact tests as appropriately.Results:A total of 27 489 individuals completed survey. The adjusted prevalence of any mental disorder was 17.46% (95 %CI 17.02%-17.89%). The five most prevalent mental disorder spectrums were substance use disorders (5.29%), mood disorders (4.47%), anxiety disorders (4.46%), intellectual and mental disorders due to physical or substance (1.91%), and psychotic disorders (1.12%). The most common mental disorders were alcohol use disorder (5.27%) and major depressive disorder (2.14%). The prevalence of mental disorders in men was higher than that in women (23.37% vs. 13.89%; χ 2=408.91, P<0.01). There was no significant difference in the prevalence of mental disorders between rural residents and urban residents (17.69% vs. 17.20%; χ2=1.05, P=0.305). Of participants with mental disorders, 26.12% (1 047/4 008) had moderate to severe functional impairment and 10.98% (428/3 898) have sought professional help. Conclusion:The prevalence of mental disorders among people aged 18 and above in Shandong Province is basically consistent with the results of similar domestic studies. The prevalence of mental disorder was higher in men than in women and was not differ in participants living in urban and rural areas. Alcohol use disorder, major depressive disorder, non-specific anxiety disorder and non-specific depressive disorder are most common mental disorders.

Objective:This study aims to investigate the prevalence and distribution characteristics of mental disorders among people aged 18 and above in Shandong Province.Methods:In 2015, an epidemiological survey was carried out to investigate the patterns of mental disorders in 49 counties of Shandong Province. A total of 28 000 individuals aged 18 years or older were selected using the multistage stratified cluster sampling method. All these participants were classified as at a high or low risk of mental disorders according to the assessment results of the revised version of the General Health Questionnaire (GHQ). The diagnosis of mental disorders was confirmed using the Structured Clinical Interview for Diagnostic and Statistical Manual, Forth edition (DSM-Ⅳ) axis I or MMSE. All participants at high risk of mental disorders were evaluated using DSM-Ⅳ or MMSE to confirm the psychiatric diagnoses, while 10% of participants at low risk of mental disorders were randomly selected to be evaluated. The prevalence and its 95% confidence interval of mental disorders were adjusted according to study design and sociodemographic characteristics of the sample. The between-group differences of prevalence were compared using chi-square tests or Fisher′s exact tests as appropriately.Results:A total of 27 489 individuals completed survey. The adjusted prevalence of any mental disorder was 17.46% (95 %CI 17.02%-17.89%). The five most prevalent mental disorder spectrums were substance use disorders (5.29%), mood disorders (4.47%), anxiety disorders (4.46%), intellectual and mental disorders due to physical or substance (1.91%), and psychotic disorders (1.12%). The most common mental disorders were alcohol use disorder (5.27%) and major depressive disorder (2.14%). The prevalence of mental disorders in men was higher than that in women (23.37% vs. 13.89%; χ 2=408.91, P<0.01). There was no significant difference in the prevalence of mental disorders between rural residents and urban residents (17.69% vs. 17.20%; χ2=1.05, P=0.305). Of participants with mental disorders, 26.12% (1 047/4 008) had moderate to severe functional impairment and 10.98% (428/3 898) have sought professional help. Conclusion:The prevalence of mental disorders among people aged 18 and above in Shandong Province is basically consistent with the results of similar domestic studies. The prevalence of mental disorder was higher in men than in women and was not differ in participants living in urban and rural areas. Alcohol use disorder, major depressive disorder, non-specific anxiety disorder and non-specific depressive disorder are most common mental disorders.