Objective:To analyze the incidence, epidemiology, and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in Guizhou Province from 2017 to 2021 and provide a scientific basis for monitoring of CJD in Guizhou Province.Methods:In this retrospective study, epidemiological and clinical information on suspected CJD cases reported by nine hospitals in Guizhou Province was collected and analyzed based on the laboratory test results of cerebrospinal fluid, blood, and skin samples from the patients.Results:From 2017 to 2021, a total of 47 patients with suspected CJD were reported in Guizhou Province, including 22 confirmed patients. Of these patients, 18 patients (18/22) were clinically diagnosed with sporadic CJD, 2 patients (2/22) were clinically suspected of having sCJD, and 2 patients (2/22) were confirmed to have genetic CJD. All patients primarily presented with rapid progressive dementia, and abnormal magnetic resonance imaging findings of the head are the main auxiliary examination results (16/20). The positive rate of 14-3-3 protein in cerebrospinal fluid was high (14/21). The blood sample PRNP gene testing revealed that 129 amino acids were M/M homozygous, while 219 amino acids were E/E homozygous. Except for T188K and E200K mutations detected by PRNP gene testing in 2 gCJD cases, no other site mutations were found, and 5 cases were positive for skin PrPSc. Patients' geographical distribution showed no obvious clustering. Patients have a wide range of occupations. The male-to-female ratio was 13:9, with a median age of 64 years. The majority of the patients were Han Chinese, and there was no special epidemiological history. Conclusion:The majority of the confirmed CJD patients in Guizhou Province from 2017 to 2021 are sporadic CJD patients, and their residence, occupation, gender ratio, age distribution, and other characteristics are consistent with the incidence patterns of sporadic CJD.

Objective:The aim of noise quality management for ICU patients was to explore the clinical feasibility of noise quality management.Methods:A randomized controlled trial method and convenient sampling method were used to select 240 patients treated in the ICU of Shanghai Fengxian District Central Hospital from April 2021 to March 2023 as the study objects. According to the time of admission, 120 patients admitted from April 2021 to March 2022 were divided into the control group. A total of 120 patients admitted to hospital from April 2022 to March 2023 were included in the intervention group. The control group was given routine care, and noise quality management was implemented in the intervention group on the basis of routine care. The noise decibel value, sleep quality, incidence of delirium and patient satisfaction of the two groups were compared.Results:In the intervention group, there were 69 males and 51 females, aged (56.08 ± 5.74) years old. The control group included 68 males and 52 females, aged (56.11 ± 5.72) years old. The decibels of day and night in ICU of the intervention group were (42.62 ± 1.33) and (38.72 ± 1.28) dB, which were lower than those of the control group (67.49 ± 2.36) and (59.65 ± 2.37) dB, with statistically significant differences ( t=100.57, 85.12, both P<0.05). Total score of sleep quality of patients in the intervention group (78.40 ± 5.86) was higher than that of the control group (60.49 ± 6.25), with statistically significant differences ( t=24.32, P<0.05). The incidence of delirium in the intervention group 12.50%(15/120), was lower than that in the control group 26.67%(32/120) with a statistically significant difference ( χ2=7.65, P<0.05). Satisfaction of patients in the intervention group 97.50%(117/120) was higher than that in the control group 90.00%(108/120), with a statistically significant difference ( χ2=5.76, P<0.05). Conclusions:The application of noise quality management for ICU patients is conducive to improving the overall environment of the ward, improving the sleep quality of patients, reducing the occurrence of patients′ delirium and improving patient satisfaction.

Objective:To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China.Methods:Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing. Clinical characteristics and gene mutation characteristics of HH patients carrying HJV gene mutations were analyzed.Results:Among the 37 cases with primary iron overload, ten cases (27.0%, 10/37) had detectable HJV gene mutations, which included four homozygous mutations, five compound heterozygous mutations, and one monoheterozygous mutation. p.Q6H and p.C321X (80.0%, 8/10) were the most common mutated sites. The average age of onset was 30.7±14.7 years. The age of diagnosis was 35.7±16.2 years, with male-to-female ratio of 7:3. Ferritin and transferrin saturation were (5 267±905) ng/ml, and 94.3%±1.2%, respectively. Magnetic resonance imaging showed iron overload in the liver, pancreas, and myocardium. Liver biopsy showed diffuse iron deposition within hepatocytes. All ten cases had elevated transaminases; one case (1/10, 10.0%) had liver cirrhosis; four cases (4/10, 40.0%) had heart failure and arrhythmia; five cases (5/10, 50.0%) had diabetes; six cases (6/10, 60.0%) had hypogonadism; six cases (6/10, 60.0%) had skin pigmentation; and six cases (6/10, 60.0%) had fatigue symptoms. All six cases underwent bloodletting therapy, and ferritin levels dropped to about 100 ng/ml. Two cases of oral administration of the iron chelator deferasirox did not meet the ferritin level standard, and one case died from acute heart failure following a confirmed diagnosis during hospitalization.Conclusion:The HJV gene may be one of the main pathogenic genes of HH in China. The p.Q6H and p.C321X mutations were one of the hotspot mutations. The onset age of HJV gene-related HH was between 20 and 30 years old, and their condition was severe. Therefore, early bloodletting treatment can have a favorable outcome.

The accuracy of quantitative hormone testing has been concerned by clinical and laboratory professionals. Most of the small molecule hormones in human body have the characteristics of low concentration and similar structure, and need to be detected by high sensitivity and high specificity detection technology to achieve accurate quantification. In the past 20 years, liquid chromatography-tandem mass spectrometry (LC-MS) has gradually moved from scientific research to clinical application because of its unique sensitivity and specificity, which is considered to be a powerful supplement to traditional immunological methods, and has continuously achieved important fruits in clinical disease diagnosis and treatment. In order to further explore the application value of mass spectrometry technology in the quantitative detection of hormones, the Chinese Journal of Laboratory Medicine invited experts from the fields of clinical endocrinology and laboratory medicine to summarize their experience and opinions on the performance characteristics, challenges and future development direction of mass spectrometry technology in clinical hormone testing. Experts agreed that the advantages of mass spectrometry technology in hormone testing have been very clear, could effectively solve some clinical challenges in the diagnosis and treatment of endocrine diseases, but still faces a series of challenges such as insufficient talent reserve, low sample throughput, high operating costs and lack of standardized management.

Whether gender selection should be conducted is a controversial topic in ethical research on mitochondrial replacement technology. Scholars put forward different moral judgments based on different positions, and after reviewing these judgments, it was found that those who support gender selection mainly rely on the utility theory and rights theory, while those who oppose gender selection mainly rely on the dignity theory and community theory. It is not difficult to find that relying on traditional moral theory to defend moral judgments or actions often leads to endless debates among "moral strangers" , and does not provide effective guidance for solving specific problems. Principlism is a systematic and comprehensive analytical approach constructed with a series of clear and effective frameworks, which can reasonably solve the differences and disagreements between different value systems and cultural concepts. In the discussion of whether gender selection should be conducted in mitochondrial replacement technology, principlism refined and balanced it through the method of reflective equilibrium, and finally obtained the best judgment plan that allows for gender selection. To truly achieve the humane purpose of avoiding harm in gender selection, it is necessary to clearly limit the objects and stages of use, and regulate them from the dual dimensions of ethics and morality, as well as policy regulation.

Objective:To determine the evaluation indexes of national standard strains of genotypes 1, 3 and 5 of Japanese encephalitis virus (JEV) and evaluate the national standard JEV strains.Methods:According to the national standard strain evaluation technical standards of pathogenic microbial bacteria (virus) species, based on the application of Japanese encephalitis virus research, and according to the morphological characteristics, biological characteristics, molecular biological characteristics and other research data to identify the characteristics of G1, G3 and G5 genotypes of JEV.Results:Spherical virus particles with a diameter of about 60 nm were visible under electron microscope of the three Japanese encephalitis virus strains. The cytopathic effect was mainly characterized by cell shrinkage and exfoliation in BHK-21 and Vero cell lines, cell fusion and exfoliation were shown after infection with C6/36 cell line; the virus titer was 10 5-10 7 PFU/ml, and the plaque size was different by genotype. The median lethal dose of intrabitoneal challenge in G1, G3 and G5 JEV in three weeks-old mice was 50.51 PFU, 6.98 PFU, and 8.13 PFU, and the median lethal dose of intracranial challenge in five weeks mice was 3 PFU, 0.3 PFU, 1.35 PFU. The whole genome length of G1, G3 and G5 JEV was 10 967 bp, 10 976 bp and 10 983 bp, respectively. Conclusions:Three genotypic national standard strains of JE V were identified and evaluated by electron microscopy, cell, animal and genome laboratory indexes, which provided reference for the identification and evaluation of other national standard strains of JEV.

In this research,a new phospholipid based monolith was fabricated by in situ co-polymerization of 1-dodecanoyl-2-(11-methacrylamidoundecanoyl)-sn-glycero-3-phosphoethanolamine and ethylene dimethacrylate to mimick bio-membrane environment.Excellent physicochemical properties of this novel monolith that were achieved included column efficiency,stability,and permeability.Moreover,the biomimetic monolith showed outstanding separation capability for a series of intact proteins and small molecules.In particular,it exhibited good potential as an alternative to the commercial immobilized artificial membrane(IAM)column(IAM.PC.DD2)for studying drug-membrane interactions.This study not only enriched the types of IAM stationary phases,but also provided a simple model for the prediction of phosphatidylethanolamine related properties of drug candidates.

Objective:To analyze the molecular evolution characteristics of HA and NA genes of influenza B/Yamagata (BY) and influenza B/Victoria (BV) lineage viruses in Guizhou Province, aiming to provide reference for scientific prevention and control of influenza. Methods:The prevalence of various types of influenza viruses in Guizhou Province from 2017 to 2021 was analyzed. The nucleic acid of influenza B viruses was extracted, and then the HA and NA genes were amplified by RT-PCR. Fourteen strains were sequenced and the sequences of 83 strains were obtained from GISAID. Homologies between the 97 influenza B viruses as well as the phylogenetic characteristics and amino acid site variations were analyzed. Results:Influenza A, BY and BV lineage viruses co-circulated in Guizhou Province and BV lineage was the predominant type. The homologies of HA and NA genes were 98.7%-99.4% and 98.4%-99.6% between BY lineage viruses and the reference vaccine strain B/PHUKET/3073/2013. BV lineage viruses shared 98.3%-99.3% and 98.9%-99.6% homologies with the reference vaccine strain B/Colorado/06/2017. The BY lineage strains in Guizhou Province mainly belonged to Y3 genetic group with HA gene in two branches of Y3-H1-2 and NA gene in three branches of Y3-N1-3. Three reassortant strains were found in Y3 clade. The isolated BV lineage strains mainly belonged to V1A-2 genetic group with HA gene in four branches of V1A-2 H1-4 and NA gene in five branches of V1A-2 N1-5. Twenty reassortant strains were found in V1A-2 clade and no inter-lineage reassortants were found. Analysis of variations at key amino acid sites showed that there was no mutation at epitopes in Y3 genetic group. However, there were point mutations at four main epitopes and a shift mutation in 190 helix in V1A-2 genetic group. There was no mutation in drug resistance sites. Conclusions:Various types of influenza viruses circulated in Guizhou Province. The homology between influenza B viruses and vaccine strains was decreasing. Different branches of HA and NA genes had been evolved and various forms of mutations were detected in the sequences. Intra-lineage reassortant strains and new varieties emerged. Surveillance of influenza B viruses should be strengthened.

Objective:To understand the genetic variation and the prevalence of H9N2 subtype avian influenza virus in Guizhou province, and to provide the scientific evidence for the prevention and control of avian influenza virus.Methods:The results of AIV detection in live poultry market(LPM) environment in Guizhou province from October 2018 to March 2019 were statistically analyzed, RNAs were extracted and sequenced from the HA genes of 13 samples of H9N2 positive screened by real-time PCR. Then the homology, the genetic evolution and the mutations of important amino acid were analyzed by bioinformation softwares. Results:The positive rate of AIV was 52.2% and the positive rate of H9N2 was 83.7% in LPM environment. The homology between nucleotides of the HA gene of 21 strains ranged from 91.6% to 100.0%, and the homology between amino acids of the HA gene ranged from 91.0% to 100.0%. All strains belonged to Y280 sublineage and G57 genotype. Key sites analysis showed that they had a common motif PSRSSRGLF and LSRSSRGLF at the cleavage site, which indicated that they were lentogenic and low pathogenic strains. Mutations H191N, E198T/A and Q234L at the receptor binding sites in the HA was found in 21 strains, while indicated the viruses had the potential to bind human-like receptor. The analysis results of glycosylation motifs showed that all 21 strains had 7 glycosylation sites, but had a site deletion at amino acid site 218 and an addition at 313.There was no significant mutation in the key site compared with the human infected strains. Conclusions:The detection rate of AIV in LPM environment in Guizhou province was high, and the pollution was very serious, and H9N2 subtype is the main subtype, All H9N2 subtype AIVs belonged to Y280 sublineage and G57 genotype, and they were low pathogenic avian influenza viruses in Guizhou province, but the genetic gap were widening and mutations of key amino acid site might enhance susceptibility and pathogenicity to human beings. Hence, It is necessary to strengthen the surveillance of molecular characteristic variation of H9N2 subtype AIV.

The progression of hyperuricemia disease is often accompanied by damage to renal function. However, there are few studies on hyperuricemia nephropathy, especially its association with intestinal flora. This study combines metabolomics and gut microbiota diversity analysis to explore metabolic changes using a rat model as well as the changes in intestinal flora composition. The results showed that amino acid metabolism was disturbed with serine, glutamate and glutamine being downregulated whilst glycine, hydroxyproline and alanine being upregulated. The combined glycine, serine and glutamate could predict hyperuricemia nephropathy with an area under the curve of 1.00. Imbalanced intestinal flora was also observed. , , , , and other conditional pathogens increased significantly in the model group, while and , the short-chain fatty acid producing bacteria, declined greatly. At phylum, family and genus levels, disordered nitrogen circulation in gut microbiota was detected. In the model group, the uric acid decomposition pathway was enhanced with reinforced urea liver-intestine circulation. The results implied that the intestinal flora play a vital role in the pathogenesis of hyperuricemia nephropathy. Hence, modulation of gut microbiota or targeting at metabolic enzymes, , urease, could assist the treatment and prevention of this disease.