Effect of the comprehensive intervention measures on Yunnan unexplained sudden death in Dali Prefecture / 中华地方病学杂志

Objective:To evaluate the effect of comprehensive intervention measures on Yunnan unexplained sudden death (YUSD) in Dali Prefecture, Yunnan Province, and to provide scientific basis for improving the prevention and control measures.Methods:Since 2010, Yunnan Province had implemented comprehensive intervention measures in ward areas according to the etiological pattern of YUSD. In July 2019, 47 families with YUSD were selected as case families and 23 families without YUSD were selected as control families in 31 natural villages of Heqing, Xiangyun, Yunlong, Eryuan, Jianchuan, Binchuan and Nanjian counties of Dali Prefecture. A unified questionnaire was used to investigate the basic information, economic status, dietary structure, and health literacy of the families during the two periods of "the first sudden death case" and "the present".Results:The annual household income of the case families at present (median, 20 492.6 yuan) was significantly higher than that of the first sudden death case (3 883.4 yuan), and the difference was statistically significant ( Z = - 5.27, P < 0.001). At present, rice (76.6%, 36/47) was the main diet of the case families; at the time of the first sudden death case, 23.4% (11/47) of the case families could not eat enough, and there was no such situation in the case families at present. Compared with the time of the first sudden death case, the dietary habits of the case families at present were as follows: the proportion of eating Trogia venenata decreased from 19.0% (39/205) to 0 (0/190), the proportion of eating wild fruit decreased from 17.1% (35/205) to 9.5% (18/190), and the proportion of drinking raw water decreased from 55.1% (113/205) to 42.1% (80/190), and the differences were statistically significant (χ 2 = 22.37, 4.90, 6.86, P < 0.05). Lifestyle and health awareness: the proportion of those who washed their hands before meals and after using the toilet increased from 9.8% (20/205) to 41.6% (79/190), those who did not overwork increased from 16.6% (34/205) to 34.2% (65/190), and those who took good protection when spraying pesticides increased from 7.3% (15/205) to 21.6% (41/190), and the differences were statistically significant (χ 2 = 53.17, 33.94, 16.48, P < 0.001). Toilet habits: the proportion of using outdoor toilet decreased from 75.6% (155/205) to 9.5% (18/190), the difference was statistically significant (χ 2 = 175.21, P < 0.001). When the first sudden death case occurred, the proportions of eating Trogia venenata and using outdoor toilet in the case families were higher than those in the control families (χ 2 = 22.37, 23.70, P < 0.001), the proportions of those who washed their hands before meals and after using the toilet and those who did not overwork in the case families were lower than those in the control families (χ 2 = 7.38, 4.93, P < 0.05). Conclusions:The economic conditions, production and living conditions of YUSD areas in Dali Prefecture have been significantly improved, and the health literacy and health prevention awareness of the population have been greatly improved. Economic conditions and living standard, dietary structure and health literacy may be related factors of YUSD.

Mechanisms and implications in gene polymorphism mediated diverse reponses to sedatives, analgesics and muscle relaxants / 대한마취과학회지

Responses to sedatives, analgesics and muscle relaxants vary among patients under general anesthesia, which could be ascribed to the disparities of clinical characteristics and genetic factors of individuals. Accumulating researches have indicated that gene polymorphisms of the receptors, transporters and metabolizing enzymes associated with anesthetics play a considerable role in their efficacy. However, a systematically summarized study on the mechanisms of gene polymorphisms on pharmacodynamics and pharmacokinetics of anesthetics is still lacking. In this paper, the recent researches on pharmacogenomics of sedatives, analgesics and muscle relaxants are comprehensively reviewed, and the contributions and mechanisms of polymorphisms to the differences of individual efficacy of these drugs are discussed, so as to provide guidance for the formulation of a rational anesthesia regimen for patients with various genotypes.

Cytotoxicity of 4 Wild Mushrooms in a Case of Yunnan Sudden Unexplained Death / 法医学杂志

OBJECTIVES@#To explore the cytotoxicity of four wild mushrooms involved in a case of Yunnan sudden unexplained death (YNSUD), to provide the experimental basis for prevention and treatment of YNSUD.@*METHODS@#Four kinds of wild mushrooms that were eaten by family members in this YNSUD incident were collected and identified by expert identification and gene sequencing. Raw extracts from four wild mushrooms were extracted by ultrasonic extraction to intervene HEK293 cells, and the mushrooms with obvious cytotoxicity were screened by Cell Counting Kit-8 (CCK-8). The selected wild mushrooms were prepared into three kinds of extracts, which were raw, boiled, and boiled followed by enzymolysis. HEK293 cells were intervened with these three extracts at different concentrations. The cytotoxicity was detected by CCK-8 combined with lactate dehydrogenase (LDH) Assay Kit, and the morphological changes of HEK293 cells were observed under an inverted phase contrast microscope.@*RESULTS@#Species identification indicated that the four wild mushrooms were Butyriboletus roseoflavus, Boletus edulis, Russula virescens and Amanita manginiana. Cytotoxicity was found only in Amanita manginiana. The raw extracts showed cytotoxicity at the mass concentration of 0.1 mg/mL, while the boiled extracts and the boiled followed by enzymolysis extracts showed obvious cytotoxicity at the mass concentration of 0.4 mg/mL and 0.7 mg/mL, respectively. In addition to the obvious decrease in the number of HEK293 cells, the number of synapses increased and the refraction of HEK293 cells was poor after the intervention of Amanita manginiana extracts.@*CONCLUSIONS@#The extracts of Amanita manginiana involved in this YNSUD case has obvious cytotoxicity, and some of its toxicity can be reduced by boiled and enzymolysis, but cannot be completely detoxicated. Therefore, the consumption of Amanita manginiana is potentially dangerous, and it may be one of the causes of the YNSUD.

Analysis of common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy in Yunnan unexplained sudden death cases / 中华地方病学杂志

Objective:To analyze common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy (ARVC) in Yunnan unexplained sudden death (hereinafter referred to as Yunnan sudden death) cases, and explore the etiological relationship between Yunnan sudden death and ARVC.Methods:Four typical Yunnan sudden death affected counties (cities) were selected as investigation sites. Cryopreserved autopsy cardiac cavity blood samples were collected from Yunnan sudden death cases ( n = 3), and peripheral venous blood samples were harvested from their relatives (first, second, third and immediate degree of kinship, n = 67) and control population ( n = 49). The DNA of blood samples was extracted for amplification and sequencing of 97 exons of 5 common ARVC desmosomal protein [desmoplakin (DSP), desmocollin-2 (DSC2), desmoglein-2 (DSG2), plakophilin-2 (PKP2) and junction plakoglobin (JUP)] genes, and genetic lineage of Yunnan sudden death cases was investigated. Results:A total of 17 gene mutation sites were discovered in Yunnan sudden death cases and their relatives, with 6, 5, 4, 1 and 1 in the DSP, DSC2, DSG2, PKP2 and JUP genes, which were not found in the control population. Among them, 9 were newly discovered mutation sites and 8 were reported mutation sites. The DSP gene exon 24 c.8472 G>C, a pure contractual sense mutation, was common in the relatives of 4 cases in the same family surveyed; and one immediate relative carried a deletion mutation at c.2368 - 2370 of exon 15 of DSC2 gene.Conclusion:Yunnan sudden death cases and their relatives carry mutations in the ARVC desmosomal protein DSP, DSC2, DSG2, PKP2, and JUP genes, and the onset of some Yunnan sudden death may be associated with mutations in the ARVC desmosomal protein genes.

Investigation and analysis of two suspected Yunnan sudden unexplained death cases in a village with a history of Yunnan sudden unexplained death / 中华地方病学杂志

Objective:To explore the cause of death of 2 suspected Yunnan sudden unexplained death (YNSUD) cases in Dayao County, Yunnan Province.Methods:The field epidemiological investigation and autopsy of 2 cases of YNSUD in Dayao County from June 15 to 20, 2020 were conducted; and blood and tissue samples were collected for qualitative analysis of common poisons and drugs.Results:The areas where the two cases were located were all seriously ill villages with a history of YNSUD, and the time of death occurred in the onset season of YNSUD. There was no blood relationship between the 2 cases, no obvious abnormal symptoms before death, no special diet, no history of exposure to pesticides and other toxic chemicals, and the test results of common poisons were all negative. Autopsy pathological examination results showed that case 1 died of acute cardiac dysfunction caused by sudden acute myocardial infarction of coronary heart disease, and case 2 died of central respiratory and circulatory failure caused by spontaneous subarachnoid hemorrhage.Conclusions:The two cases are excluded from YNSUD through autopsy, and the cause of death is determined. It is suggested that emergency response should be taken as soon as possible for YNSUD cases, and autopsy should be actively carried out to clarify the cause of death from a pathological point of view.

Childhood acute lymphoblastic leukemia complicated with cytokine release syndrome: report of 1 case and review of the literature / 白血病·淋巴瘤

Objective:To explore the early identification, diagnosis and pathogenesis of childhood acute lymphoblastic leukemia (ALL) complicated with cytokine release syndrome(CRS).Methods:The clinical data of childhood ALL complicated with CRS admitted to Shenzhen Children's Hospital in February 2021 were retrospectively analyzed. The relevant literature was reviewed.Results:The little girl was 2 months and 11 days of age and was diagnosed with ALL with MLL rearrangement positive by bone marrow aspiration because of abdominal mass and abnormal hemogram. She had recurrent high fever with pulmonary imaging characteristic changes during the early intensive induction chemotherapy, accompanied by the elevated interlukin (IL)-2, IL-6, IL-10 and interferon (IFN)-γ. Finally, she was diagnosed with ALL complicated with CRS. Glucocorticoid therapy showed a good efficacy and her clinical symptoms improved.Conclusions:ALL complicated with CRS is essentially induced by cytarabine syndrome drugs in the chemotherapy. The main clinical manifestations include recurrent high fever accompanied by the elevated IL-2, IL-6, IL-10 and IFN-γ. The symptomatic and supportive therapy is usually based on glucocorticoids. Early identification and diagnosis can reduce adverse drug reactions and improve the life quality of children.

Screening of ARVC desmosomal protein gene mutation in Yunnan unexplained sudden death area of a key county, Yunnan / 中华地方病学杂志

Objective:To explore the relationship between arrhythmogenic right ventricular cardiomyopathy (ARVC) desmosomal protein gene mutations and Yunnan unexplained sudden death (hereinafter referred to as Yunnan sudden death) by detecting 5 common ARVC desmosomal protein gene mutations of Yunnan sudden death cases and their relatives in Heqing County, Yunnan Province.Methods:In January 2021, the autopsy heart cavity blood was collected from Yunnan sudden death cases in 8 villages in Heqing County, and peripheral venous blood samples of relatives of the cases were collected. Blood samples' DNA was extracted, after PCR amplification, 97 exons of 5 desmosomal protein genes [desmoplakin (DSP), desmoglein-2 (DSG2), plakophilin-2 (PKP2), junction plakoglobin (JUP) and desmocollin-2 (DSC2)] were sequenced by Sanger method to analyze gene mutations.Results:Three blood samples of Yunnan sudden death cases and 36 blood samples of relatives were collected. A total of 26 gene mutation sites were detected in 39 blood samples, with a total mutation rate of 26.80% (26/97). There were 13, 5, 3, 3 and 2 mutation sites in DSP, DSG2, PKP2, JUP and DSC2 genes, respectively. Among them, 19 were reported mutations and 7 were new mutations: DSP gene exon 3 c.372G>A, exon 15 c.2090A>G, exon 17 c.2371C>A, exon 24-I c.8458T>G; DSG2 gene exon 8 c.861C>T; PKP2 gene exon 3 c.892C>A, exon 8 c.1725G>T. Three Yunnan sudden death cases and 36 relatives were all carriers of compound gene mutation, and the same person carried 3 - 9 gene mutation sites at the same time.Conclusion:Mutations of ARVC desmosomal protein genes DSP, DSG2, PKP2, JUP and DSC2 exist in Yunnan sudden death cases and their relatives, which may be the genetic background factors of some Yunnan sudden death.

Screening of ARVC desmosomal protein gene mutation in people from Yunnan unexplained sudden death area in Xiangyun County, Dali Prefecture, Yunnan Province / 中华地方病学杂志

Objective:To investigate the mutation of desmosomal protein gene of arrhythmogenic right ventricular cardiomyopathy (ARVC) in people from Yunnan unexplained sudden death (YUSD) area in Xiangyun County, Dali Prefecture, Yunnan Province, and to explore the etiological relationship between the mutation of ARVC desmosomal protein gene and YUSD.Methods:The autopsy cardiac blood sample of YUSD case ( n = 1) and the peripheral venous blood samples of the same time case ( n = 1) and relatives of YUSD case ( n = 16) were collected in Xiangyun County. Blood DNA was extracted for PCR amplification and sequencing of a total of 97 exons of the ARVC desmosomal protein genes [plakophilin 2 (PKP2), junction plakoglobin (JUP), desmoplakin (DSP), desmoglein 2 (DSG2) and desmocollin 2 (DSC2)] were conducted by Sanger method. At the same time, basic information and genetic family of YUSD case, the same time case and relatives of YUSD case were investigated, and gene mutations were comprehensively analyzed. Results:The YUSD case and the same time case carried JUP, DSP and DSG2 gene mutations. Among the relatives of YUSD case, 2, 14, 16, 15 and 4 cases had mutations in PKP2, JUP, DSP, DSG2 and DSC2 genes, respectively. The YUSD case, the same time case and the relatives of YUSD case carried 6 identical mutation sites: JUP gene exon 3 c.213 T>C synonymous mutation, exon 14 c.2089 A>T missense mutation; DSP gene exon 19 c.2631 G>A synonymous mutation, exon 24 c.8472 G>C synonymous mutation; DSG2 gene exon 8 c.861 C>T synonymous mutation, and exon 15 c.3321 T>C synonymous mutation.Conclusion:In Xiangyun County, six identical mutation sites (JUP gene c.213 T>C and c.2089 A>T, DSP gene c.2631 G>A and c.8472 G>C, DSG2 gene c.861 C>T and c.3321 T>C) carried by YUSD case, the same time case and the relatives of YUSD case may be related to the incidence of some YUSD cases.

Desmosomal protein gene mutations of Yunnan unexplained sudden death cases families by ARVC pathological diagnosis / 中华地方病学杂志

Objective:To expound the pathogenesis relationship between Yunnan unexplained sudden death (YUSD) and desmosomal protein gene mutations of arrhythmogenic right ventricular cardiomyopathy (ARVC).Methods:Four YUSD cases families by ARVC pathological diagnosis were selected, to collect heart blood samples of YUSD cases by ARVC pathological diagnosis( n=3), venous blood samples of immediate relatives with genetic relationship (case relatives, n=4) and control population without genetic relationship ( n=7). DNA was extracted for PCR amplification and sequencing of a total of 97 exons of the ARVC desmosomal protein genes plakophilin 2 (PKP2), desmoplakin (DSP), desmoglein 2 (DSG2), desmocollin 2 (DSC2), and junction plakoglobin (JUP), and the mutations of the 5 genes were analyzed in combination with the genetic family. Results:DSP gene mutations were found in all YUSD cases by ARVC pathological diagnosis and case relatives, and PKP2, DSG2, DSC2 and JUP genes mutations were found in 1 person each. The same person carried 1-3 genes mutations. DSP gene existed 4 exon mutation sites, and 1 of which was a newly discovered heterozygous synonymous mutation c.4014 C>A (p.A1338A). PKP2 gene existed 2 exon missense mutation sites in 1 YUSD case by ARVC pathological diagnosis, and 1 of which was a newly discovered heterozygous mutation c.739 G>C (p.G247R). One heterozygous missense mutation site c.799 G>A (p.A267T) of JUP gene was newly discovered, and the predictive value of protein function was 0.963, the possibility of abnormal changes in protein function was high. DSG2 and DSC2 genes each had one mutation site. However, no mutation was found in control population.Conclusions:Both YUSD cases by ARVC pathological diagnosis and case relatives carry ARVC desmosomal protein genes DSP, PKP2, DSG2, DSC2 and JUP mutations. There may be a certain pathogenesis relationship between YUSD and ARVC desmosomal protein gene mutations.

Analysis of mutations in ARVC desmosomal protein gene in relatives of Yunnan unexplained sudden death cases in Nanjian County, Dali Prefecture / 中华地方病学杂志

Objective:To analyze the mutations in desmosomal protein genes of arrhythmogenic right ventricular cardiomyopathy (ARVC) in relatives of Yunnan unexplained sudden death (YUSD) cases in Nanjian County, Dali Prefecture, Yunnan Province, and provide a basis for etiological hypothesis and control measures.Methods:The blood samples of YUSD case relatives ( n = 7) and control villagers ( n = 7) were collected, and basic situation investigation and electrocardiography (ECG) examination were performed at the same time. Blood DNA was extracted as a template for PCR amplification, and Sanger method was used to perform plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmocollin 2 (DSC2), desmoplakin (DSP), and junction plakoglobin (JUP) five ARVC desmosomal protein genes sequencing of a total of 97 exons, and comprehensive analysis of gene mutations was carried out. Results:Five of YUSD case relatives carried genetic mutation sites, including DSP gene heterozygous synonymous mutations about exon 20 c.2862 C>T (p.Cys954Cys) and exon 24F c.7122 C>T (p.Thr2374Thr), DSC2 gene heterozygous missense mutation about exon 15 c.2326 A>G (p.Ile776Val), and all the five people were single heterozygous mutation carriers. Among them, two case relatives of the father-son carried the same site mutation of the DSC2 gene; the abnormal ECGs of three YUSD case relatives were ST-T change or clockwise rotation. However, the mutation sites of PKP2, DSG2, DSC2, DSP and JUP genes in control villagers were not detected.Conclusions:YUSD case relatives in Nanjian County carry ARVC desmosomal protein genes DSP and DSC2 mutations. Pathogenic mutation of DSC2 gene c.2326 A>G (p.Ile776Val) is may related to the incidence of some YUSD cases.

Effect of PDCA mode on shortening blood transfusion waiting time in hematology ward / 中国实用护理杂志

Objective:To analyze the application of PDCA mode in the management of blood transfusion waiting time.Methods:Using random block design, 98 patients received blood transfusion during January to December 2018 were included into the before improvement; 32 patients received blood transfusion during January to June 2019 were included into the after improvement. Standard process of blood taking and transfusion was applied to the before improvement, while based on standard process, found out the deficiencies in the previous clinical practice, continuously improved the details of the process for the after improvement. Then blood transfusion waiting times were compared between the two groups.Results:The blood transfusion waiting time was (26.95±9.20) min before improvement and (25.59±4.16) min after improvement, with a significantly lower disqualification rate 6.25% (2/32) comparing with 26.53% (26/98) before improvement. The differences were statistically significant ( t value was 3.75, P<0.01; χ2 value was 5.87, P<0.05). Conclusions:The application of PDCA circulation management mode can shorten the blood transfusion waiting time and transfusion can be made within 30 minutes after blood taking so that nursing quality of transfusion in the ward can be improved.

Effect of Icariin on Neuroprotection of Cerebral Ischemia-reperfusion Rats and TLR4/NF-κB Pathway in Microglia / 中国实验方剂学杂志

Objective:To investigate the effect of icariin on neuroprotection in cerebral ischemia-reperfusion rats and microglia toll-like receptor 4 （TLR4）/nuclear transcription factor-κB （NF-κB） pathway. Method:In the blank group， blood vessels were only isolated but not ligated and blocked，and the rats were injected intraperitoneally with the same volume of normal saline. After successful modeling， they were randomly divided into model group， butyphthalide group （6 mg·kg-1）， and high， medium and low （40，20，10 mg·kg-1）-dose icariin group，and abdominally administered with drugs at 5，12， 24 h after ischemia， respectively. The nerve function scores were detected， 2，3，5-triphenyltetrazole chloride （TTC） staining was used to measure the cerebral infarction rate，immunohistochemical assay was performed to detect the expressions of microglial markers ionized calcium binding adapter molecule 1（Iba1） and TLR4 in the rat brain cortex， Western blot immunoassay was used to detect the expression of NF-κB p65 in the cerebral cortex， and enzyme-linked immunosorbent assay （ELISA） was used to detect interleukin-1α （IL-1α） and tumor necrosis factor-α （TNF-α） content. Result:Compared with the sham-operation group， the nerve score， the cerebral infarction rate， the activations of Iba1 and TLR4 in microglial cells， the protein expression of NF-κB p65（P<0.01）， and the contents of inflammatory factors IL-1α and TNF-α in the model group increased significantly（P<0.01）. After treatment with icariin， compared with the model group， the neurological function score and the cerebral infarction rate of rats were improved， whereas the activations of Iba1 and TLR4 in microglia， the protein expression of NF-κB p65， and the contents of inflammatory factors IL-1α and TNF-α decreased obviously（P<0.05，P<0.01）. Conclusion:Icariin may inhibit the activations of TLR4 and its downstream NF-κB signaling pathway and reduce the expression of relevant inflammatory factors IL-1α and TNF-α by regulating the activation of microglia， so as to play a protective role in the brain after stroke.

Cardiac Disease Associated Genetic Variants in Yi Nationality in Regions with High Incidence of Yunnan Sudden Unexplained Death / 法医学杂志

Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death （YNSUD） in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages （inpatient group） and 197 healthy Yi villagers from neighboring villages （control group）. Fifty-two single nucleotide variants （SNVs） of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram （ECG） examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 （rs2278792, c.2318G>A, p.R773K） of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy （ARVC） in inpatient group was higher than that in control group （P<0.05）. Abnormal ECG changes were detected in 71 individuals （34.6%） in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise （counterclockwise） rotation, left （right） axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.

E-cadherin Expression in Children with Acute Leukemia and Its Clinical Significance / 中国实验血液学杂志

OBJECTIVE@#To investigate the correlation of E-cadherin expression level with the clinical characterastics in children with acute leukemia (AL), and to explore the possible regulatory mechanism.@*METHODS@#Real-time quantitative RT-PCR was applied to detect the expression level of E-cadherin in bone marrow samples from 135 child patients diagnosed as AL, and its relevance with clinical indicators was statistically analyzed. The expression levels of E-cadherin, β-catenin, and Akt/p-Akt were detected by using Western blot. The bone marrow samples from 22 children with non-malignant hematological diseases were used as controls.@*RESULTS@#The expression level of E-cadherin significantly decreased in newly diagnosed patients with all 3 types of AL as compared with bone marrow samples from control group (P0.05). The expression level of E-cadherin in the patients from Common-B-ALL group was higher than B-ALL patients with other immunophenotypes (P<0.01), while no significant difference was found among patients grouped by FAB classification. By the correlation analysis of measured data, lower E-cadherin expression level was found to be related with high WBC count and serum lactic dehydrogenase level (LDH) (r=-0.419, r=-0.269), but with low blood platelet count in B-ALL (r=0.335). In T-ALL, expression of E-cadherin was found to be negatively correlated with LDH and percentage of immature cells in the bone marrow (r=-0.567, r=-0.557). In addition, the lower expression of E-cadherin was also found to be related with WBC count and percentage of immature cells in the bone marrow in newly diagnosed AML patients (r=-0.368, r=-0.391). Compared with control group, the expression of E-cadherin was down-regulated significantly (P<0.01), while β-catenin, Akt significantly was up-regulated in 3 types of AL patients (P<0.01). The expression of p-Akt and p-Akt/Akt was up-regulated significantly in T-ALL (P<0.01).@*CONCLUSION@#Lower expression of E-cadherin is related factor of unfavourable prognosis in children with acute leukemia. The expression deficiency or down-regulation of E-cadherin may activate Wnt/β-catenin and PI3K/ Akt signaling pathways to promote the genesis and progress of haematological malignancies, thus resulting in a series of malignant biological behaviors in cells. E-cadherin may be a new prognostic indicator for pediatric acute leukemia, thus to guide individualized hemotherapy.

Plakophilin-2 gene mutation in Yunnan population with unexplained sudden death / 中华地方病学杂志

Objective To study the desmosomal protein plakophilin-2(PKP2)gene mutation of arrhythmogenic right ventricular cardiomyopathy (ARVC) in different populations of Yunnan unexplained sudden death (YUSD) areas,and explore the relationship between PKP2 gene mutation and YUSD.Methods Heart blood samples of YUSD cases (n =7) and venous blood samples of YUSD immediate family (n =30) and other family (n =11) members were collected.Basic situation and genetic relationship of YUSD immediate family and other family were investigated,and electrocardiography (ECG) was examined.DNA from blood samples was extracted and 15 exons of PKP2 gene were sequenced to analyze the mutation of PKP2 gene in different populations.Results A total of 10 people carried 11 PKP2 gene mutation sites with a mutation rate of 20.83％ (10/48).Two mutation sites were novel (p.G247R,p.T298N),and the new mutation sites were carried by two YUSD cases.Eight missense mutations were heterozygous mutations,two of the three synonymous mutations were heterozygous mutations,and one was homozygous synonymous mutation.The mutation sites were significantly concentrated in 4 exons,which were No.1 097 base of exon 4,No.819 and 893 bases of exon 3.2,No.739 base of exon 3.1,and No.156 base of exon 1.One YUSD case of ARVC pathological change carried exon 3.1 (p.G247R) and exon 4 (p.L366P) compound heterozygous mutations,the other YUSD case carried exon 3.2 (p.T298N) heterozygous mutation.The YUSD cases and immediate family with PKP2 gene mutations showed obvious family genetic relationships,and they were all first-degree and second-degree relatives.The abnormal ECGs of YUSD immediate family and other family mainly were conduction block,arrhythmia and premature beat.Conclusion There is a high PKP2 gene mutation rate in different populations of YUSD areas,and there may be a certain etiological connection between PKP2 gene mutations and YUSD.

BRAF-V600E mutation and its clinical significance in children with Langerhans cell histiocytosis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical significance of BRAF-V600E mutation in children with Langerhans cell histiocytosis (LCH).</p><p><b>METHODS</b>Real-time fluorescence quantitative PCR was used to detect BRAF-V600E mutation in paraffin-embedded tissue samples from 26 children with LCH. A retrospective analysis was performed for the association of BRAF-V600E mutation with clinical features and prognosis of children with LCH.</p><p><b>RESULTS</b>Of the 26 children, 25 received standard chemotherapy, with a 2-year overall survival (OS) rate of 100% and a 2-year event-free survival (EFS) rate of 88%. Of the 26 pathological samples, 18 (70%) came from bone tissue, and the positive rate of BRAF-V600E mutation reached 50% (13/26). The positive rate of BRAF-V600E gene mutation was not associated with age, sex, affected organ, clinical classification, early treatment response, recurrence, and 2-year OS and EFS rates of the children with LCH (P>0.05), but it was associated with clinical grouping of LCH (P<0.05).</p><p><b>CONCLUSIONS</b>Children with LCH tend to have a high OS rate and a high incidence rate of BRAF-V600E mutation. BRAF-V600E mutation is associated with clinical grouping of LCH.</p>

Preparation of decontaminant for skin radioactive isotopes contamination of Co2+ and Mn2+ / 解放军医学杂志

Objective To develop a detergent for decontamination of Co2+ and Mn2+ on skin.Methods Single-factor experimental and orthogonal experimental designs were performed to study the formula composition of the decontaminant.The skin irritation experiment was performed and assessed according to the standard method.The detergent was prepared according the conventional process of showering gel.The pH,ethylenediaminetetraacetic acid (EDTA) level,total active substances of the detergent,and its stability were evaluated according to the chemical method recommended in the national standard GB/T 13173-2008.The decontamination efficiency on stable isotopes of Co2+ and Mn2+ contamination was measured on the back of hand skin of volunteers.Results The formula composition of the decontaminant was obtained through the orthogonal experiment.The pH value of the detergent was 6.99,total active substance was 20.49％ and the content of EDTA was 5.99％.After being kept at-5 ℃ and 40℃℃ for 24h,the decontaminant showed no strange smell,no precipitation,no discoloration and still kept transparent.The decontamination effects on Co2+ and Mn2+ contaminated on hand skin were 103.13％ ± 0.05％ and 100.62％ ± 0.09％,respectively,which was significantly higher than that of distilled water (81.77％ ± 0.23％ and 79.63％ ± 0.23％,P＜0.01,respectively).Conclusion The decontaminant has a high effect on decontamination of Co2+ and Mn2+ polluted on skin,and is hopeful to be developed as an effective detergent on radioactive isotopes contamination.

The status of anxiety and its influential factors of preschool children in rural areas / 中华行为医学与脑科学杂志

Objective To know the anxiety status of preschool children in rural areas and to explore its influential factors. Methods Subjects of 1363 rural preschool children aged 3-6 years were selected from Anhui Province( Changfeng and Feixi county of Hefei city; Qianshan county of Anqing city; Funan county of Fuyang city) . The primary caregivers of preschool children were investigated by Chinese version of Spence Preschool Anxiety Scale (SPAS),Devereux Early Childhood Assessment for Preschoolers (DECA-P2) ,Neglect Norms for Children Aged 3 to 6 Years in Rural Areas of China,Adaptation Partnership Growth Affection Resolve (APGAR),Self-rating anxiety scale (SAS) and Self-rating depression (SDS). Result-s Among the 1363 preschool children,the positive rate of anxiety was 14. 7％. Physical injury fears score was highest (1. 24±0. 84),followed by social phobia anxiety (0. 86±0. 75) and separation anxiety (0. 85± 0. 74) . Except for obsessive compulsive disorder,the other four types of anxiety and total anxiety scores were negatively correlated with the total protective factors of mental resilience (r=-0. 054- -0. 070,P<0. 05). Besides,all anxiety scores were positively correlated with behavioral problems(r=0. 121-0. 237,P<0. 05)and neglect degree (r=0. 157-0. 269,P<0. 05). The results of multiple linear regression analysis of different anxiety types showed that gender,family type,family income status,parental rearing pattern was consistent or inconsistent,children' s neglect degree,behavior problem and anxiety/depression status of primary caregivers were the main factors affecting the anxiety level of preschool children in rural areas. Conclusions In order to reduce or avoid anxiety of preschool children,it is necessary to establish a good family environment,im-prove parents' upbringing level,and take effective education intervention.

Analysis of the incidence characteristics of pathologically diagnosed ARVC patients with unexplained sudden death in Yunnan / 中华地方病学杂志

Objective To analyze the characteristic of Yunnan unexpected sudden death (YUSD) cases by pathological diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC),in order to offer clue for ARVC etiologic research of YUSD.Methods The pathological diagnosis results of 9 cases of sudden death of ARVC in Yunnan,as well as epidemiological investigation data,were used to comprehensively analyze the pathological features of the pathological diagnosis of ARVC in Yunnan.Results The 9 cases including 8 females and 1 male,aged 16-47 years.The sudden death time was from June to August,mainly distributed in 8 families from the disease seriously ridden 7 villages.Three of them had a genetic history of family YUSD,2 cases had a history of mental stimulation,1 case had eaten Trogia venenata;and acute symptoms and signs were palpitation,chest tightness,shortness of breath,and loss of consciousness.Pathological observations were the typical ARVC change,mainly right ventricular lesions,with different degrees of cardiac enlargement and extensive adipose tissue infiltration in the ventricular wall.Among them,6 cases of fat infiltration almost reached the full thickness of the heart wall.In addition to the pathological changes of ARVC,8 cases were accompanied by one or several pathological changes in myocarditis,cardiac dysplasia,nephropathy,pulmonary edema,pneumonia and pancreatitis.Of the 9 cases,5 cases were diagnosed with ARVC,2 cases with ARVC and pulmonary edema,1 case with ARVC and acute hemorrhagic necrotizing pancreatitis,and 1 case with ARVC and Trogia venenata poisoning.The clinical examination abnormalities of the family members of the cases mainly showed arrhythmogenic electrocardiography changes and abnormal myocardial enzymes.Conclusions The nine cases have showed typical epidemiology characteristics of YUSD,and cardiachistological changes are consistent with the ARVC pathological diagnostic criteria.A part of YUSD cases may be caused by ARVC,and the inference will be proved by cadaveric pathologic examination and related pathogenic gene detection.

Brief Introduction of Pharmacovigilance System in the United States and Its Implication for China / 医药导报

Objective To make suggestions for China's drug safety supervision through an introduction of the status of pharmacovigilance system in the United States (US).Methods Through legal research and document research,the author introduced and analyzed the current situation of pharmacovigilance system in the US from the organization and responsibilities of Food and Drug Administration,system of laws and regulations,risk management and evaluation methods of post-marketing drugs etc.Results The US has now established a relatively mature pharmacovigilance system.This system has a perfect drug safety supervision organization structure,a sound system of laws and regulations and a scientific evaluation system of drug risk management.Conclusion The relevant experience of the US can be learned by China,such as the communication & collaboration between pre-and post-market drug regulatory agencies,instillation of drug risk management and establishment of guidance for industry to promote the development and improvement of China's drug safety supervision.