Objective : To investigate the epidemiological characteristics of severe fever with thrombocytopenia syndrome (SFTS) in Dongyang City, Zhejiang Province from 2017 to 2022, so as to provide insights into SFTS prevention and control. Methods: Data pertaining to patients with SFTS in Dongyang City from 2017 to 2022 were collected from Notifiable Infectious Disease Reporting System of Chinese Disease Prevention and Control Information System. The epidemiological and clinical characteristics of patients with SFTS were descriptively analyzed, and the trends in incidence of SFTS was evaluated using annual percent change (APC). Results: A total of 32 SFTS cases were reported in Dongyang City from 2017 to 2022, with mean annual incidence of 0.63/105, and 8 cases died, with a fatality rate of 25.00%. The incidence of SFTS appeared a tendency towards a rise from 2017 to 2022 (APC=40.697%, P<0.05). The male to female ratio of SFTS cases was 0.78∶1, and farmer was the predominant occupation (31 cases, 96.88%). SFTS predominantly occurred among individuals at ages of 51 to 69 years (20 cases, 62.50%), and the incidence peaked during the period between March and May and between July and August (28 cases, 87.50%). SFTS cases were reported in 11 out of the 18 townships (streets) in Dongyang City, with the highest number found in Zuocun Township (8 cases, 28.13%), and had the lowest platelet count of (41.46±5.19)×109 platelets/L, with the lowest count of (3.00 to 67.00) ×109 platelets/L. All the SFTS cases had a history of mountain forest and farmland activities 2 weeks prior to onset of the disease, and 5 cases (15.63%) had a history of tick bites. Conclusions The incidence of SFTS appeared a tendency towards a rise in Dongyang City from 2017 to 2022, and SFTS was highly prevalent in spring and summer, with high incidence among farmers. Intensified health education of SFTS is recommended among residents in high-incidence areas.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective:To report the clinical and genetic characteristics of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) induced by a new homozygous mutation in the SACS gene, and to improve the clinicians′ recognition of the disease. Methods:Detailed nervous system physical examination was performed on the patient and his parents from a consanguineous family admitted to the Genetics and Metabolism Clinic of the Department of Neurology, the First Affiliated Hospital of Kunming Medical University in March 2022. The peripheral blood DNA of the patient and his parents was extracted, and whole exon sequencing (WES) was performed on the patient and his parents using second-generation sequencing technology. The mutation sites were verified by Sanger sequencing, and the mutation sites were analyzed by software.Results:The 18-year-old Han ethnic male patient developed a progressive stiffness of his bilateral lower limbs and gait unsteadiness since the age of 3. He had pyramidal tract sign in his bilateral lower limbs, cerebellar ataxia, pes cavus and hammer toes. Brain magnetic resonance imaging (MRI) showed symmetrical low signal of bilateral pons, cerebellar atrophy and thinning of corpus callosum in T 2WI and T 2 fluid attenuated inversion recovery (FLAIR) sequences. Neuroelectrophysiological examination showed sensory motor peripheral neuropathy. Ophthalmic examination revealed concomitant exotropia and ametropia in both eyes. WES revealed a homozygous variant of c.6958T>C (p.Tyr2320His) in exon 10 of the SACS gene of the patient, and his parents were heterozygous variant carriers confirmed by Sanger sequencing. The variant was classified as possibly pathogenic (PM1+PM2+PP3+PP4) according to the American Society for Medical Genetics and Genomics. The patient was clearly diagnosed as ARSACS caused by homozygous mutation of c.6958T>C in the SACS gene. Conclusions:A novel pathogenic variant (c.6958T>C) in the SACS gene identified in this study leads to the manifestation of ARSACS. The primary clinical manifestations include cerebellar ataxia, pyramidal tract signs, and sensorimotor peripheral neuropathy. Head MRI examination of T 2WI and T 2FLAIR sequences with symmetrical low signal on both sides of the pons helps to narrow down the scope of differential diagnosis.

ObjectiveTo investigate the effect of Gegen Qinliantang （GGQLT）-medicated serum on free fatty acid （FFA）-induced nonalcoholic steatohepatitis （NASH） in vitro model of human hepatoma cells HepG2. MethodNASH model of HepG2 cells was established in vitro， and the cells were intervened with different volume fractions of GGQLT-medicated serum and resveratrol. Intracellular lipid deposition in each group was detected by oil red O staining， the level of reactive oxygen species （ROS） in each group were detected by flow cytometry， the levels of glutathione peroxidase （GSH-Px）， superoxide dismutase （SOD）， triglyceride （TG） and malondialdehyde （MDA） in each group were detected by kits. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） was used to measure the mRNA expression levels of nuclear transcription factor （NF）E₂-related factor 2 （Nrf2）， heme oxygenase-1 （HO-1）， quinone oxidoreductase 1 （NQO1）， Kelch-like epichlorohydrin-associated protein-1 （Keap1）， NF-κB， thioredoxin interacting protein （TXNIP）， interleukin-1β （IL-1β） in HepG2 cells of each group. The protein expression of Nrf2， TXNIP in cells of each group was detected by Western blot. ResultFFA induced large accumulation of intracellular lipids. Compared with the normal group， the activities of GSH-Px and SOD were significantly decreased （P<0.01） and the contents of TG， ROS and MDA were significantly increased （P<0.05， P<0.01） in the model group. Compared with the model group， all GGQLT groups and resveratrol group could elevate intracellular SOD activity to different degrees （P<0.05， P<0.01） and significantly reduce the levels of intracellular ROS and MDA （P<0.05， P<0.01）， GGQLD high- and medium-dose groups and resveratrol group significantly elevated GSH-Px activity （P<0.01）， GGQLD medium- and low-dose groups and resveratrol group significantly decreased TG content （P<0.05， P<0.01）. Compared with the model group， GGQLT high- and medium-dose groups and resveratrol group could significantly upregulate the mRNA expression levels of Nrf2， HO-1 and NQO1 （P<0.01）， all GGQLT groups and resveratrol group could significantly downregulate the TXNIP protein expression level， as well as significantly downregulate the mRNA expression levels of Keap1， NF-κB （P<0.05， P<0.01）. Nrf2-siRNA transfection of cells revealed that Nrf2 expression was significantly downregulated （P<0.01） in the Nrf2-siRNA group of cells by comparing with NC-siRNA group at the corresponding dose of drugs， and the inhibitory effects of GGQLT and resveratrol on TXNIP， IL-1β were attenuated. ConclusionFFA induces the production of ROS and inflammatory factors in HepG2 cells， and GGQLT can improve the anti-inflammatory and antioxidant capacities of cells， and its mechanism may be related to the regulation of Nrf2/TXNIP signaling pathway， so as to improve NASH.

Objective: To investigate the effects of clustered warming intervention on spontaneous hypothermia and coagulation function in patients with emergency trauma. Methods: A total of 118 cases of emergency trauma patients admitted from January 2017 to December 2018 in Changzhou Second People′s Hospital were selected as subjects. According to the time of admission, there were 62 cases in the control group from January 2017 to December 2017 and 56 cases in the treatment group from January 2018 to December 2018. The control group used routine emergency nursing intervention and warming measures, and the treatment group combined with clustered warming intervention. The changes of body temperature, coagulation function, spontaneous hypothermia and prognosis were compared between the two groups. Results: When entering the Emergency Department and entering the Emergency Department for 60 minutes, the body temperature of the emergency trauma patients in the treatment group were (36.41±0.75) and (36.74±0.65)℃, and the control group were (35.42±0.80) and (35.54±0.76)℃. The difference between the two groups was statistically significant (t value was 6.914, 9.168, P<0.01). After entering the Emergency Department for 60 minutes, the activated partial thromboplastin time, prothrombin time, and thrombin time in the treatment group were (35.24±2.25), (13.56±1.02), (17.45±1.52) s, and the control group was (39.45±3.42), (15.12±1.34), (19.20±1.23) s. The difference between the two groups was statistically significant (t value was 7.802, 7.058, 6093, P<0.01). The incidence of spontaneous hypothermia and duration of hypothermia in the treatment group were 16.07%(9/56), (7.32±1.14) h, and that in the control group was 41.94%(26/62) and (18.42±3.20) h. The difference between the two groups was statistically significant (χ² value was 9.432, t value was 24.579, P<0.01). The incidence of chills, infection and death in the observation group was 16.07%(9/56), 7.14%(4/56), and 5.36%(3/56), and that in the control group was 51.61%(32/62), 24.19%(15/62), and 17.74%(11/62). The difference between the two groups was statistically significant (χ² value was 16.393, 6.322, 4.316, P< 0.05 or 0.01). Conclusions Clustered warming intervention can help prevent the risk of spontaneous hypothermia in emergency trauma patients, antagonize coagulation dysfunction and improve patient prognosis.

Objective:To investigate the specific chest computed tomography(CT) features of corona virus disease 2019 (COVID-19) and to evaluate its clinical diagnostic value.Methods:The clinical data of 35 cases with suspected COVID-19 from Shanghai Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine and Shanghai East Hospital Affiliated to Tongji University from January 1 to February 14, 2020 were retrospectively analyzed. A total of 17 cases with positive results of two times of real time polymerase chain reaction (RT-PCR) for 2019 novel coronavirus (2019-nCoV) were evaluated as the case group, and the remaining 18 cases with negative results of two times of RT-PCR for 2019-nCoV were evaluated as the control group. The features of chest CT images of 35 cases were obtained. The frequencies of four CT imaging indicators including ground glass opacities (GGO), crazy paving, heterogeneous consolidation and mutiple subpleural lesions were analyzed. The sensitivity, specificity, positive predictive values (PPV) and negative predictive value (NPV) for COVID-19 were calculated.Results:In the case group, there were 11 cases with GGO, seven cases with crazy paving, six cases with heterogeneous consolidation, and 16 cases with mutiple subpleural lesions, while in the control group, there were seven cases with GGO, one case with crazy paving, six cases with heterogeneous consolidation, and five cases with mutiple subpleural lesions. When multiple subpleural lesions or any two of the CT imaging indicators were used as the characteristic indicators, the diagnosis efficiencies were better, with the sensitivity, specificity, PPV, NPV and Youden index of 94.12%, 72.22%, 76.19%, 98.86% and 0.66, respectively, and 88.24%, 77.78%, 78.95%, 87.50% and 0.66, respectively.Conclusions:Chest CT indictors are of high clinical diagnostic value for COVID-19. Any two of the four CT indicators (GGO, crazy paving, heterogeneous consolidation and mutiple subpleural lesions) or the single characteristics (mutiple subpleural lesions) are of high diagnostic efficacy.

Objective Treatment and histopathological observation of demodex canis in beagle dogs .Methods Using the method of direct smear for microscopic examination of demodex canis.Histopathological observation on the skin of the parasitic parts after routine paraffin section and HE staining .Results (1) Clinical observation: The red spots and hair removal was appeared on limbs , eyes, lower abdomen and other parts of the skin of canine patients .The skin of the limbs becomes thicker and wrinkles .(2) Blood routine examination:Basically normal.(3) Microscope observation:The results showed that a large number of worms and eggs of small demodex canis could be found .(4) Histopathological observation:Hair follicles showed a large number of demodex mites and eggs.The sebaceous glands and sweat glands have normal morphology and no mites was found .A large number of eosinophils and neutrophil infiltration were seen around the hair follicles.It was also found that the formation of multifocal granuloma:the granuloma was oval shaped .(5) Treatment programme:The combination of medication and the strengthening of environmental control has been shown to be effective . Conclusions Granuloma caused by demodex canis can be divided into immune granuloma .It may not be possible to destroy the sebaceous glands after infection with small demodex canis.Whether the sebaceous gland is infected with the demodex canis may be associated with the worm species or course of disease .

Objective To observe the effects of simultaneous bilateral central venous intubation on chest drainage for bilateral malignant pleural effusion induced by primary non-small lung cancer and summarize the nursing measures. Methods Totally 65 patients with bilateral malignant pleural effusion were randomized into experiment group and control group. In the former group, chest drainage was done using bilateral central venous intubation and in the latter, unilateral chest drainage was used. The two groups were compared in terms of effectiveness rate, time for intubation, remission duration and hospitalization. Results The time for remission duration, hospital stay and time for intubation were all significantly shorter than those of the control group (all P<0.05). There were no significances in curative effect and adverse reactions between the two groups. Conclusion Chest drainage using simultaneous bilateral intubation for bilateral malignant pleural effusion induced by primary non-small lung cancer can be effective in shortening the time for remission, intubation and hospitalization. But it causes no more adverse reaction.

Objective To investigate the anti-inflammatory and analgesic effects of toothache drop pills. Methods The acute inflammatory models such as xylene-induced ear edema and egg white-induced paw edema and the chronic inflammatory model granuloma induced by cotton pellet implantation were used in researching the inflammatory effects of toothache drop pills. Meanwhile, the analgesic effects of toothache drop pills were observed by hot plate and acetic acid writhing test. Results Compared with the blank control group,the degree of ear swelling in mice in the positive control group, toothache drop pills middle and high dose group (2.56 ± 1.35 mg, 4.26 ± 1.21 mg, 3.23 ± 1.25 mg vs. 8.25 ± 1.21 mg) were lower than the blank control group (P<0.05). 120 minutes after administration,compared with the blank control group, the degree of paw swelling in mice in the positive control group, toothache drop pills middle and high dose group (23.54 ± 9.12 mg, 27.58 ± 9.14 mg, 21.25 ± 8.45 mg vs.39.54 ± 8.89 mg) were lower than the blank control group (P<0.05). Granuloma swelling quality in mice caused by cotton in the positive control group, toothache drop pills middle and high dose group (6.51 ± 2.58 mg, 7.82 ± 1.57 mg, 6.58 ± 3.47 mg vs. 13.58 ± 3.25 mg) were lower than the blank control group (P<0.05). The threshold of pain in mice in the positive control group, toothache drop pills middle and high dose group (20.86 ± 2.58 s, 20.25 ± 2.14 s, 20.75 ± 1.78 s vs.17.21 ± 3.31 s) were increased (P<0.05). The number of mice writhing in the positive control group, toothache drop pills middle and high dose group (23.47 ± 7.57, 28.65 ± 6.54, 24.36 ± 7.78 vs. 40.96 ± 6.58) were decreased(P<0.05). Conclusion Toothache drop pills had obvious anti-inflammatory and analgesic effects.