Objective To study the predictive value of heart-type fatty acid-binding protein (H-FABP) in the improvement of survival rate in patients with severe sepsis.Methods There was a prospective case-control study in 50 patients with severe sepsis from October 2014 to October 2015.According to the international guidelines for severe sepsis and septic shock set in 2012,all patients were divided into sepsis group (n =16),severe sepsis group (n =14) and septic shock group (n =20),and these patients were further divided into to survival group (n =22) and non-survival group (n =28) as per patients surviving within 28 days.Gender,age,ethnic,and Acute Physiology and Chronic Health Evaluation score (APACHE Ⅱ) were recorded.H-FABP,B-type natriuretic peptide (BNP),creatine kinase (CK),creatine kinase isoenzyme (CK-MB),and troponin-T (cTn-T) were determined within 6 hours after admission.The statistical software SPSS21.0 was used to do t test,test,and the receiver operating characteristic curve for comparison between groups.Results H-FABP in septic shock group was higher than severe sepsis group and sepsis group (P ＜ 0.01).The 28-day mortality of septic group (80％) and severe sepsis group (71.4％) were higher than sepsis group (12.5％) (P ＜ 0.01).Non-survival' s H-FABP,BNP,cTn-T,CK,CKMB was higher than survivals (P ＜ 0.05).Through the ROC of H-FABP (AUC=0.748,P=0.003,95％ C I:0.605-0.890) and BNP (AUC =0.714,P=0.010,95％ CI:0.573-0.856),it shows that H-FABP is better than BNP.when H-FABP take 9.902 ng/mL,the sensitivity of 82.1％,specificity of 63.6％.H-FABP,BNP has a certain value in 28-day mortality prediction.Conclusions Sepsis shock has significantly higher 28-day mortality than sepsis and severe sepsis.Compared with BNP,H-FABP has greater predictive value in sepsis patients,it will increase along with the aggravation of the disease;it can also predict 28-day mortality.

Objective: To study the biotransformation of gracillin by Penicillium lilacinumACC 31890,to isolate and to identify the structures of metabolites and investigate the pharmacological activities.Methods: The conversion products were isolated and purified by silica gel column chromatography and semi-preparative reversed phase liquid chromatography.Their structures were identified by MS and NMR, and the anti-inflammatory activity of the conversion products was investigated as well.Results: Three metabolites were isolated and purified, and identified as 5R-spirost-5-ene-3-ol-O-β-D-Glucopyranoside-(1→3)-β-D-glucopyranosyl (1), trillin (2) and diosgenin (3) with the conversion rate of 1%, 1% and 45%, respectively.In vitro study showed that the three products showed certain degrees of activity to inhibit the production of NO, IL-6 and MCP-1 in LPS-primed RAW264.7 macrophages.Moreover, the anti-inflammatory activity of the bioconversion products increased along with the hydrolyzation of carbohydrate chain.Diosgenin, the final product, showed the strongest anti-inflammatory activity among the three products.Conclusion: The biotransformation of gracillin by Penicillium lilacinum has a high productivity of diosgenin.The amount of glycosyls has notable influence on the anti-inflammatory activity of steroid sapoinin.

Objective To analyze the hot spots and frontiers in domestic and foreign precision medicine with CiteSpace. Methods The CNKI and WOS-covered papers on precision medicine were analyzed by bibliometrics combined with CiteSpace. Results Domestic precision medicine got off in 1992 and scholars became interested in it from 2010 . Foreign precision medicine started in 1985 and studies on it increased rapidly from 2006 . The node of precision medicine was the largest in China with a rather high value of gene mutation, US president Barack Obama ( precision medicine program) , personalized medicine, gene chip, genomics and pharmacogenomics whereas the node of personalized medicine, cancer and breast cancer was the largest with a rather high value of precision medi-cine, pharmacogenomics and pharmacogenetics. Conclusion The number of domestic and foreign papers on US president Barack Obama ( precision medicine program) is rapidly increased and pharmacogenomics is their common frontier. However, cancer is highly concerned in foreign countries.

Objective Establish an objective and fair evaluation index system for the implementation effectiveness of the National Major New Drug Development Program of China.Methods Based on literature review and Delphi method,the framework of the evaluation index system was built and analytic hierarchy process was applied to determine the priority of each indicator of the system.The objectiveness and validness of the results were assured by determining expert activeness coefficient,authority coefficient,indicator rationality,and by applying consistency check.Results A targeted and systematic evaluation index system was constructed for the National Major New Drug Development Program,and through expert consultation and analytic hierarchy process,the factor of product result was considered of the highest weight of 39.03％,followed by technical result,theoretical result and organization and management result.The evaluation index system suggested that product result and technical result are two relatively more significant factors to be considered during evaluation.Conclu sion After consultation on expert opinions,the evaluation index system for the National Major New Drug Development Program was constructed with each factor been assigned with a scientific and rational weight,and this will provide a guideline for the decision making of program administrators and evaluation practice.

Objective To analyze the management experience of Swedish medical research funding,and provide reference for further rationalization of medical research investment management in China.Methods Literature research method,descriptive statistics and other methods were used to systematically sort out the source of Swedish medical research funding,and specifically analyze the capital investment and distribution in medical fields in the past ten years.Results The Swedish government 's budget in the UO9 (health,medical and social care) field is steadily increasing.The annual average budget accounts for 7.14％ of the total government budget.There are scientific management methods for fund allocation.The appropriation projects are mainly divided into three main directions including public health categories,health care and social care.Conclusions Taking into account of the problems existing in the investment and distribution of medical research funds in China,this paper proposes to explore the capital investment mode suitable for China's national conditions,enhance the targeted investment of funds in medicine,and establish a scientific and efficient fund investment management mechanism.

Objective: To investigate the characteristics of visual motor integration in children with developmental dyslexia and ADHD, and to provide a reference for the diagnosis and treatment of these children. Methods: During July to November of 2020，students from grade 3 to grade 5 of 7 primary schools in Xinjiang were selected by using random cluster sampling method. A total of 56 dyslexia group (group DD), attention deficit hyperactivity disorder group (group ADHD), comorbidity group and normal control group were selected and compared the differences of their visual motor integration ability and related factors ability. Multiple linear regression analysis was used to explore the predictive effects of related factors on visual motor integration ability. Results: The scores of visual integration ability and visual perception in comorbidity group (95.05±14.01, 12.71±7.40) were lower than those in DD group (104.77±17.19，23.04±11.48), ADHD group (104.00±14.11，25.70±10.74) and normal control group (129.80±12.91, 44.05±16.56) ( F/Z =58.24,110.49, P <0.05). The visual working memory score of the comorbidity group ( 73.64 ±5.36) was lower than the normal control group (78.96±4.68) ( P <0.05)，and there was no significant difference between the DD group (74.48±7.06) and the ADHD group (75.98±7.36) ( P >0.05). The results of multiple regression showed that visual perception, age, IQ and visual working memory were associated with visual and motor integration ability of dyslexia children with ADHD ( R 2=0.32，0.17，0.11， 0.04 ， P <0.05). Conclusion Visual motor integration and visual perception among children with DD combined ADHD are more severely impaired than those with ADHD and DD alone. Visual perception, age, IQ and visual working memory could help predict the development of visual and motor integration ability in children with DD combined ADHD.

Objective: To understand the relationship between emotional behavior and literacy of primary school students, and to provide evidence for improving the literacy of primary school students. Methods: A total of 3 710 students in grade 2 to 3 from three schools in Xinjiang were selected by random cluster sampling method, and were investigated with the Literacy Scale for Primary School Students and the Strengths and Difficulties Scale. Results: The average literacy of the second and third grade students( 947.85 ±335.93，1 519.45±509.88) were lower than the Shanghai literacy norm(1 414, 2 135), and the differences were statistically significant ( t =-62.15, -49.84, P <0.01). The abnormal detection rates of emotional behavior were peer communication problems (12.40%), prosocial behavior (12.02%), hyperactivity (11.59%), conduct problems (10.49%) and emotional problems (5.88%). Emotional symptoms ( r =-0.19), conduct problems ( r =-0.29), hyperactivity attention deficit ( r =-0.27), peer communication problems( r =-0.24) were negatively correlated with literacy scores( P <0.01). Regression analysis showed that peer interaction problems ( β =-24.45), hyperactivity problems ( β =-42.04) and conduct problems ( β =-50.73) had negative predictive effects on literacy ( R 2=0.12)( P <0.01). Conclusion Peer interaction problems, hyperactivity problems and conduct problems are moderately related to the literacy of primary school students.In the process of teaching, teachers should combine the psychological characteristics of students, adopt the teaching strategy of combining centralized literacy with written literacy, pay attention to the cultivation of literacy ability.

OBJECTIVETo identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).

METHODSThe coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.

RESULTSA splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.

CONCLUSIONThe novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.

Adult ; Female ; Humans ; Male ; Mutation ; genetics ; Pedigree ; Polycystic Kidney, Autosomal Dominant ; genetics ; RNA Splicing ; genetics ; TRPP Cation Channels ; genetics ; Young Adult

OBJECTIVETo detect the disease-causing mutation in a pedigree affected with autosomal dominant congenital cataract.

METHODSGenomic DNA was extracted and purified from peripheral blood samples from members of the pedigree and 100 healthy controls. Coding regions of 18 candidate genes were screened with PCR and Sanger sequencing. Identified mutations were verified among 100 healthy individuals to exclude single nucleotide polymorphisms.

RESULTSA heterozygous nonsense mutation c.471G>A of the CRYGD gene, which resulted in p.Trp157Term, was identified in all three patients. The same mutation was not found in the two normal individuals from the family and 100 healthy controls. The nonsense mutation was predicted to be "disease causing" by Mutation t@sting program.

CONCLUSIONThe nonsense mutation c.471G>A of the CRYGD gene probably underlies the congenital cataract in the pedigree.

Cataract ; etiology ; genetics ; Child ; Codon, Nonsense ; Humans ; Male ; Sequence Analysis, DNA ; gamma-Crystallins ; genetics

OBJECTIVETo identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).

METHODSPCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.

RESULTSA splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.

CONCLUSIONThe novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.

Adult ; Base Sequence ; DNA Mutational Analysis ; Exons ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Pedigree ; RNA Splicing ; Young Adult