Objective:To analyze the clinical and genetic characteristics of a family of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) caused by a new locus of HTRA1 mutation. Methods:The medical history and clinical data of a patient with CARASIL were collected, and genetic test was performed on some family members to observe the HTRA1 mutation. Results:The proband presented with cognitive impairment, suspicious lumbar lesions, and alopecia. Cranial imaging revealed extensive blank brain lesions and multiple microbleeding foci. The mother of the proband had psychiatric symptoms and stroke once, and the sixth younger sister had history of dementia and hypertension. Genetic test revealed that the proband and his two sons carried HTRA1 heterogenic mutation c.888C>G (p.I296M), and the two sons had alopecia. Conclusion:The c.888C>G(p.I296M) may be a new pathogenic mutation site of CARASIL.

Objective:To explore the application effect of electronic Bowie&Dick test technology and to provide a scientific basis for ensuring the accuracy,sensitivity,convenience and sterilization safety of Bowie&Dick test results of pulsation pre-vacuum steam sterilizer.Methods:From July and October of 2023,Bowie&Dick test were performed on pulsating pre-vacuum steam sterilizers No.6 and No.7 using an electronic Bowie&Dick tester and three disposable chemical Bowie&Dick test kits.The test results of different Bowie&Dick tests for the same sterilizer and the same Bowie&Dick test type on two sterilizers were analyzed,the test temperature data and usage efficiency of electronic Bowie&Dick test equipment were analyzed.Results:The unqualified rate of sterilizer No.6 in the electronic Bowie&Dick test was compared with the unqualified rate of chemical Bowie&Dick test 1,test 2 and test 3,and the difference was statistically significant(x2=16.68,22.20,0.27,P<0.05).There was no significant difference in the test results of chemical Bowie&Dick test 1 and test 3 between the two sterilizers(x2=0.55,0.00,P>0.05).The temperature difference between inside and outside of the two sterilizers electronic Bowie&Dick testers was compared,and the difference was statistically significant(t=45.44,P<0.05).The display time of electronic Bowie&Dick test results and the storage time of test data were shorter than those of chemical BD test,and the differences were statistically significant(t=-29.80,t=-37.12,P<0.05).The physical parameter monitoring records of the two sterilizers were all qualified.Conclusion:The sensitivity and convenience of electronic Bowie&Dick testing are better than those of traditional chemical Bowie&Dick testing,which can increase the safety and reliability of sterilization,improve work efficiency,improve the safety of traceability information storage and the convenience of searching,which is a new trend of Bowie&Dick testing.

Objective:To develop a prediction model using machine learning to identify anxiety and depression in elderly individuals.Methods:This study collected data from 15079 elderly individuals in Shanxi Province, including their social demographic factors and disease status.Anxiety and depression were evaluated using GAD-7 and PHQ-9 scales to understand the characteristics of mental illness in the elderly.The evaluation indexes included accuracy, recall, precision, F1 score, Receiver Operating Characteristic Curve(ROC), and area under the curve(AUC), which were derived from the confusion matrix and several models.Results:The output of our study clearly demonstrates that the full feature prediction based on LightGBM is highly accurate, with an AUC of 0.805[95% CI: 0.794-0.811]. This outperforms the Random Forest model, which achieved an AUC of 0.730[95% CI: 0.702-0.741], and the XGboost model, which achieved an AUC of 0.802[95% CI: 0.780-0.807]. Therefore, LightGBM algorithm proves to be a strong prediction model.Our simplified model, based on eight selected features, also achieves a respectable AUC of approximately 0.75. Conclusions:The new prediction model for anxiety and depression specifically designed for the elderly can be effectively utilized in grassroots health surveys or for self-examinations to efficiently predict anxiety and depression levels among the elderly population in the community.

A wireless wearable sleep monitoring system based on EEG signals is developed.The collected EEG signals are wirelessly sent to the PC or mobile phone Bluetooth APP for real-time display.The system is small in size,low in power consumption,and light in weight.It can be worn on the patient's forehead and is comfortable.It can be applied to home sleep monitoring scenarios and has good application value.The key performance indicators of the system are compared with the industry-related medical device measurement standards,and the measurement results are better than the special standards.

Objective To understand the molecular characteristics of rifampicin rpoB gene mutation site in patients with rifampin-resistant pulmonary tuberculosis (RR-TB) complicated with diabetes mellitus, and to explore whether the combination of diabetes mellitus affects rifampicin resistance-related gene mutation, providing data support for prevention and treatment of tuberculosis complicated with diabetes comorbidity. Methods A total of 170 patients with rifampicin-resistant pulmonary tuberculosis diagnosed by mycobacterium culture in sputum or alveolar lavage fluid and drug sensitivity test at the Second Affiliated Hospital of Hainan Medical University from 2022 to 2023 were selected. According to whether they were comorbid with diabetes, patients were divided into two groups: rifampicin-resistant tuberculosis without diabetes group (RR-TB; n=102) and rifampicin-resistant tuberculosis with diabetes group (RR-TB+DM; n=68). Rifampicin rpoB gene loci were detected in sputum or alveolar lavage fluid samples from all patients by microarray method, and the mutation characteristics of rifampicin resistance loci in the two groups were analyzed to explore the differences of drug resistance loci. Results The proportion of rifampicin resistance was higher in males, retreatment, smear positive and 40 to <60years old, but there was no statistically significant difference between the two groups (P>0.05); the proportion of patients aged 20 to <40 years in RR-TB+DM group (11.8%, 8/68) was significantly lower than that in the RR-TB+DM group (24.5%, 25/102) (χ2=4.237, P<0.05); the main mutation sites of the rpoB gene in both groups were 531, 526 and 511, but the mutation frequency of the sites was slightly different. The most common mutation sites in RR-TB+DM group were 531 (57.4%, 39/68), 526 (19.1%, 13/68), and 511 (8.9%, 6/68), whereas in the RR-TB group, they were 531 (51.9%, 53/102), 526 (18.6%, 19/102), and 511 (14.8%, 15/102), but there was no significant difference between the two groups (P>0.05). The mutation of 531 was mainly TCG→TTG. The 526 had four mutation types, with CAC→TAC being the main mutation type. The main mutation type of 526 in the RR-TB group was CAC→GAC, while there was no CAC→GAC mutation at 526 in the RR-TB+DM group, and the difference between the two groups was statistically significant (P<0.05). The 511 mutation was mainly CTG→CCG, but there was no significant difference between the two groups (P>0.05). Conclusions The mutation rate of RpoB 526CAC→GAC and the proportion of rifampin resistance in patients aged 20 to <40 years are significantly lower in pulmonary tuberculosis with diabetes than in simple pulmonary tuberculosis, suggesting that diabetes may affect the gene mutation at this site.

Objective: To investigate the risk factors for yersiniosis, so as to provide insights into prevention of yersiniosis. Methods: The patients with yersiniosis admitted to the clinics in the surveillance site of Chengbei Township of Jin'an District and Chengnan Township of Yu'an District in Lu'an City from 2013 to 2021 were included as the case group, and the healthy family members matched to cases were selected as the family control group, while normal residents with a 1︰2 match in the same village, gender, and age difference within 5 years were included in the community control group. Participants' demographics, hand-washing and eating habits, living environment hygiene, poultry and livestock feeding were collected using questionnaire surveys, and factors affecting yersiniosis were identified using a multivariable conditional logistic regression model. Results: There were 43 cases in the case group, with a median (interquartile range) age of 45 (34) years, 91 cases in the family control group, with a median (interquartile range) age of 36 (36) years and 86 cases in the community control group, with a median (interquartile range) age of 46 (34) years. Multivariable conditional logistic regression analysis showed that compared with the family control group, the habit of drinking unboiled water (OR=6.721, 95%CI: 1.765-25.588), and direct consumption of food stored in the refrigerator (OR=7.089, 95%CI: 1.873-26.829) were risk factors for yersiniosis in the case group; and compared with the community control group, not washing hands after contacting with poultry and livestock (OR=50.592, 95%CI: 2.758-927.997), habit of eating raw vegetables and fruits (OR=5.340, 95%CI: 1.022-27.887), direct consumption of food stored in the refrigerator (OR=19.973, 95%CI: 2.118-188.336), and unclean refrigerator (OR=12.692, 95%CI: 1.992-80.869) were risk factors for yersiniosis in the case group. Compared with the family and community control groups, not washing hands after contacting with poultry and livestock (OR=4.075, 95%CI: 1.427-11.637), habit of drinking unboiled water (OR=4.153, 95%CI: 1.331-12.957), habit of eating raw vegetables and fruits (OR=4.744, 95%CI: 1.609-13.993), and direct consumption of food stored in the refrigerator (OR=5.051, 95%CI: 1.773-14.395) were risk factors for yersiniosis in the control group. Conclusion Unhealthy habits such as eating raw vegetables and fruits, drinking unboiled water, direct consumption of food stored in the refrigerator, unclean refrigerator, and not washing hands after contacting poultry and livestock may increase the risk of yersiniosis.

OBJECTIVE To analyze the current situation of pediatric drug use under centralized drug procurement， and to provide reference for the subsequent design of pediatric drug centralized procurement rules. METHODS The comparative analysis method was used to analyze the problems in the centralized procurement， clinical use and supply of pediatric drugs from the aspects of centralized procurement selection results and actual use of pediatric drugs， price difference and online prices of pediatric drugs. The solutions were put forward to optimize the centralized procurement and pricing rules of pediatric drugs. RESULTS & CONCLUSIONS The demands for pediatric drugs in China were increasing， but the supply of marketed pediatric drugs was insufficient （including insufficient coverage of disease fields， insufficient varieties， insufficient suitable dosage forms for children， insufficient specifications for children， etc.）， and the development of pediatric drugs was relatively difficult. After merging the dosage forms of centralized procurement according to the medical insurance list， some suitable dosage forms and specifications for children couldn’t be selected， resulting in a shortage of clinical pediatric medication. Relevant enterprises’ enthusiasm for developing and producing pediatric drugs and participating in online competitions had decreased. There was also the problem of underpricing of pediatric drugs under the drug price difference ratio rule. It is recommended that when conducting centralized drug procurement， special drugs for children should be grouped separately for centralized procurement based on attributes and the population covered by the indications. The specifications of suitable pediatric drugs that were not selected are converted into the agreed purchase quantity of medical institutions in a certain proportion. It is necessary to further optimize the pricing rules for pediatric specialized drugs， ensure a certain profit margin for such drugs， increase the willingness of production enterprises to research， develop and supply drugs， and thus ensure the use and supply of pediatric drugs.

OBJECTIVE: To investigate the underlying molecular mechanisms by which silence information regulator (SIRT) 2 and glutaminase (GLS) in the amygdala regulate social behaviors in autistic rats. METHODS: Rat models of autism were established by maternal sodium valproic acid (VPA) exposure in wild-type rats and SIRT2-knockout ( SIRT2 ^-/-) rats. Glutamate (Glu) content, brain weight, and expression levels of SIRT2, GLS proteins and apoptosis-associated proteins in rat amygdala at different developmental stages were examined, and the social behaviors of VPA rats were assessed by a three-chamber test. Then, lentiviral overexpression or interference vectors of GLS were injected into the amygdala of VPA rats. Brain weight, Glu content and expression level of GLS protein were measured, and the social behaviors assessed. RESULTS: Brain weight, amygdala Glu content and the levels of SIRT2, GLS protein and pro-apoptotic protein caspase-3 in the amygdala were increased in VPA rats, while the level of anti-apoptotic protein Bcl-2 was decreased (all P<0.01). Compared with the wild-type rats, SIRT2 ^-/- rats displayed decreased expression of SIRT2 and GLS proteins in the amygdala, reduced Glu content, and improved social dysfunction (all P<0.01). Overexpression of GLS increased brain weight and Glu content, and aggravated social dysfunction in VPA rats (all P<0.01). Knockdown of GLS decreased brain weight and Glu content, and improved social dysfunction in VPA rats (all P<0.01). CONCLUSIONS The glutamate circulatory system in the amygdala of VPA induced autistic rats is abnormal. This is associated with the upregulation of SIRT2 expression and its induced increase of GLS production; knocking out SIRT2 gene or inhibiting the expression of GLS is helpful in maintaining the balanced glutamate cycle and in improving the social behavior disorder of rats.
Animals ; Rats ; Amygdala/metabolism* ; Autistic Disorder/metabolism* ; Behavior, Animal ; Disease Models, Animal ; Glutamates/metabolism* ; Glutaminase/metabolism* ; Sirtuin 2/metabolism* ; Social Behavior

ObjectiveTo investigate the protective effect of Zuoguiwan against ⁶⁰Co-γ ray-induced premature aging of rats based on the phosphatidylinositol-3-kinases/protein kinase B/mammalian target of rapamycin （PI3K/Akt/mTOR） signaling pathway. MethodSixty sexually mature female SD rats were irradiated with ⁶⁰Co-γ rays （6.0 Gy， LD₄₀） for 24 h at one time. Then they were randomized into model group， Bujiale group （0.18 g·kg^-1·d^-1）， Bujiale （0.09 g·kg^-1·d^-1） + high-dose Zuoguiwan group （23.625 g·kg^-1·d^-1）， high-dose Zuoguiwan group （23.625 g·kg^-1·d^-1）， medium-dose Zuoguiwan group （9.45 g·kg^-1·d^-1）， and low-dose Zuoguiwan group （4.725 g·kg^-1·d^-1）. The administration （once a day） lasted 21 days. Serum indexes ［follicle-stimulating hormone （FSH）， luteinizing hormone （LH）， and estradiol （E₂）］ of rats were detected by enzyme-linked immunosorbent assay （ELISA）， and morphological changes of ovarian tissues were observed based on hematoxylin and eosin （HE） staining. The apoptosis rate of granulosa cells was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling （TUNEL） and the protein expression of phosphorylated （p）-PI3K， p-Akt， p-mTOR， B-cell lymphoma-2 （Bcl-2）， and Bcl-2-associated X protein （Bax） in ovarian tissues by Western blot. ResultCompared with normal group， model group demonstrated increase in serum FSH （P<0.01）， decrease in E₂ （P<0.05）， and reduction of follicles and luteum in early ovary （P<0.01）. Moreover， the elevation of apoptosis rate of granulosa cells （P<0.01）， down-regulation of p-PI3K， p-Akt， p-mTOR， and Bcl-2 in ovarian tissue， and increase in expression of Bax were also observed in the model group as compared with the normal group （P<0.01）. In comparison with the model group， the administration groups showed rise of the number of early ovarian follicles， decrease in the apoptosis rate of granulosa cells， increase in the expression of p-PI3K， p-Akt， p-mTOR， and Bcl-2， and down-regulation of Bax， particularly the Bujiale + high-dose Zuoguiwan group（P<0.05，P<0.01）. ConclusionZuoguiwan protects radiation-damaged ovary by activating the expression of PI3K/Akt/mTOR protein in ovarian tissue， increasing Bcl-2， and inhibiting the expression of Bax.

Objective:To analyze clinical characteristics and genetic characteristics of children with ATP sensitive potassium passage (K ATP-HI). Methods:Forty-five children with genetically confirmed K ATP-HI and their families admitted to Beijing Children′s Hospital of Capital Medical University between February 2002 and December 2018 were selected as the study subjects. A detailed retrospective analysis of the patient's clinical characteristics, diagnosis and treatment process, disease-causing gene carrying status and later follow-up data was performed. ABCC8/KCNJ11 gene was sequenced by second-generation sequencing technology. Results:Among 45 children with K ATP-HI, 34 cases (75.6%) were neonatal onset, the first symptoms of 21 cases (46.7%) were convulsions. 39 cases had been treated with diazoxide, including 12 cases (30.8%) with good efficacy, 16 cases (41%) with poor efficacy and 11 cases with uncertain efficacy. Octreotide was further applied in 18 patients with uncertain or ineffective efficacy after diazoxide treatment, and 13 cases (72.2%) were effective, 3 cases were ineffective, and 2 cases were uncertain. 10 CHI patients who were ineffective to drug treatment or had clearly focal lesions confirmed by 18F-dopa positron emission by computed tomography ( 18F-DOPA PET) scans had undergone surgical treatment, 8 of which underwent partial pancreatectomy and blood glucose returned to normal after the operation; the other 2 cases underwent subtotal pancreatectomy and both had secondary diabetes after operation. Among 45 children with K ATP-HI, 1 case carried both ABCC8 and KCNJ11 mutations, 10 cases carried ABCC8 compound heterozygous mutations, and the remaining 34 cases carried ABCC8/KCNJ11 single genetic mutation. Among them, 21 cases had paternal inheritance, and 3 cases had maternal inheritance, 6 cases were identified with de novo mutations. Conclusions:Diazoxide treatment was ineffective for most K ATP-HI children, but octreotide had a higher effective rate. Partial pancreatectomy for focal type patients had a higher cure rate, and there was a risk of secondary diabetes after subproximal pancreatectomy, so it was very important to clarify the histological type of children before surgery. ABCC8 gene mutations and KCNJ11 gene mutations were the main pathogenic genes of K ATP-HI. Among patients carrying mutations in single ABCC8 or KCNJ11 gene mutation, K ATP-HI inherited by paternity were the majority. Some K ATP-HI children can relieve the hypoglycemia symptoms by themselves.