Compound heterozygous mutations of Fanc A gene in two children with Fanconi anemia / 中华实用儿科临床杂志

The clinical features and laboratory tests results of two cases with Fanconi anemia (FA) who were admitted to the Department of Children′s Hematology and Endocrinology, the Provincial Hospital Affiliated to Shandong First Medical University in 2017 were analyzed.Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) of FA-related genes was carried out.One case was female, 4 years and 3 months old.The other case was a 6-year-old male.The main manifestations were recurrent fever, asthenia and bleeding points in both legs.The girl had milk coffee spots scattered on her legs and waist, and her left thumb nail was absent.The boy had no obvious physical examination abnormality, but his left atrium and left ventricle were large and segmental myocardial damage could be seen by echocardiography.Bone marrow biopsies of both cases showed hypo-proliferation (40%) or extremely low proliferation (10%), and no megakaryocyte was found.There were no significant abnormalities in chromosome aberration, single cell gel electrophoresis, cluster of differentiation(CD) 41, CD 55, and CD 59 and chromosome karyotype.Gene sequencing revealed that the two children had compound heterozygous mutations of Fanc A gene, which came from parents.The heterozygous mutation of c1838delT was found in the exon 21 of the female child and her father, which resulted in amino acid shift mutation pIi613Tfs*27.The heterozygous deletion mutations in exons 1-3 of Fanc A gene were found in the female child and her mother by the MLPA results.The gene sequencing analysis of the male child and his family members showed the heterozygous mutation of c4124_4125del in the exon 41 of the child and his mother, which resulted in amino acid shift mutation p. T1375Sfs*49.The heterozygous deletion mutations were observed in exons 23-40 of the male child and his father, according to the MLPA results.The main basis of diagnosis of FA is to sequence the related genes of suspected children.The c1838delT is a new mutation of Fanc A gene.

Analysis of risk factors of the first time of esophageal varices bleeding in cirrhosis / 中国基层医药

Objective To analyze the risk factors of the first time of upper gastrointestinal tract variceal bleeding in patients with liver cirrhosis,and to provide suggestions and references for targeted nursing strategies.Methods From January 2016 to December 2017,86 cases of liver cirrhosis for the first time of upper gastrointestinal tract variceal bleeding treated in Shaoxing Municipal Hospital were randomly selected as bleeding group,and 86 patients with liver cirrhosis without upper gastrointestinal tract variceal bleeding were randomly selected as non-bleeding group.The retrospective investigation method was used,and SPSS 22.0 software was used for statistical analysis.Results The results of single factor analysis showed that there were significant differences in the incidence of upper gastrointestinal tract variceal bleeding in patients of liver cirrhosis with different course of disease (t =4.975,P ＜ 0.001),liver function (x2 =12.450,P =0.002),platelet count (t =2.243,P =0.012),prothrombin time (t =5.832,P ＜ 0.001),degree of esophageal varices (x2 =18.702,P ＜ 0.001),red sign (x2 =4.691,P =0.030) and portal vein diameter(t =3.425,P ＜0.001).The multivariate logistic regression analysis showed that the risk factors for the first time of upper gastrointestinal tract variceal bleeding were prothrombin time (OR =2.167,P ＜ 0.001),platelet count(OR =0.645,P =0.014),esophageal varicosity (OR =2.751,P =0.009) and portal vein diameter (OR =1.185,P =0.018).Conclusion Different factors are related to upper gastrointestinal tract variceal bleeding for the first time in patients with liver cirrhosis,and the medical staff should take corresponding nursing measures.

Comparison of localizing motor area before the surgery based on resting-state functional MRI with independent component analysis and electric cortical stimulation / 中华放射学杂志

Objective To evaluate the accuracy of presurgically resting-state fMRI(rs-fMRI) with subject order-independent group independent component analysis(ICA), compared to electric cortical stimulations. Methods Twenty-three patients with the lesion in motor area, which were recorded by our hospital from Jan, 2014 to Dec, 2015, were collected as the study sample. The data of 9 patients were excluded because of excessive head motion. As a result, 14 patients were included in this study. Rs-fMRI data before the surgery and the results of electric cortical stimulations were collected. Results All of this 14 patients were preoperatively located by rs-fMRI with SOI-GICA, including all the SMA and the ipsilesional primary motor area. On the side with lesion, the number of functional location of motor area was decreased compared with healthy side. Evaluate the accuracy of ICA by comparing the coincidence rate of these two techniques, based on the standardized electrical cortical stimulation in operation. The completely concordance between rs-fMRI with the SOI-GICA and electrical cortical stimulation in operation was 11 (11/14). Meanwhile the basically concordance of corresponded case was 3(3/14). Conclusions Rs-fMRI with the ICA has a relatively high accuracy rate in localizing motor area. Rs-fMRI has a remarkably referential contribution to the presurgically function assessment and surgical planning in implementation.

The current status and influencing factors of transitional care for the elderly with chronic disease in community / 中国实用护理杂志

Objective To investigate the current status of transitional care for the elderly with chronic disease in community,and analyze its influencing factors. Methods A total of 845 elderly patients with chronic disease in community of Ningbo were investigated with the general- case questionnaire, activities of daily living questionnaire, a series of transitional care questionnaires. Results A total of 756 elderly need transitional care in community. The influencing factors of transitional care were age, marriage,education, chronic disease type, times of hospitalization, living situation, health care category, economic status, family doctor signing. family doctor signing, highly educated, high income were the protective factors. Conclusions The need of transitional care for the elderly with chronic disease in community was high. It is necessary to seek strong support from the government, develop transitional caring platform for elderly in community, to provide diversified services according to the different needs of elderly patients.

Development of pyrogenation treatment vehicle of medical wastes / 医疗卫生装备

Objective To develop a medical wastes pyrolysis vehicle for field hospital, countryside hospital and public emergencies.Methods Configuration design, thermodynamics theory, ergonomics and auto control technology were involved in to manufacture open-type compartment, on-board pyrolysis furnace, smoke control system, and pyrolysis furnace control and monitoring system.Results The vehicle passed 7 000 km reliability test, high-low temperature test, smoke emission test and army trials.Conclusion The vehicle behaves well in performances and environment protection, and gains high economic and social benefits.

The correlation between plasma calprotectin and neutrophil count in patients with aggressive periodontitis / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To measure the levels of plasma calprotectin in aggressive periodontitis (AgP) patients and to analyze the relationship between the plasma calprotectin and neutrophil count.</p><p><b>METHODS</b>Venous blood samples were collected from 61 AgP patients and 48 periodontally healthy controls. Clinical examination consisted of bleeding index (BI), probing depth (PD), attachment loss measurements (AL) and percentage of severe sites. Plasma level of calprotectin was determined by enzyme-linked immunosorbent assay.</p><p><b>RESULTS</b>The plasma concentrations of calprotectin in AgP patients [(2.1±1.1) mg/L] were significantly higher than those in healthy controls[(1.5±0.6) mg/L] (P < 0.01). The plasma concentration of calprotectin in AgP patients was positively correlated with BI (r = 0. 271, P = 0.035), PD (r = 0.437, P = 0.000), AL (r = 0.450, P = 0.000) and percentage of severe sites (r = 0.423, P = 0.001). While the neutrophil count was also positively correlated with the plasma concentrations of calprotectin in AgP patients (r = 0.380, P = 0.004).</p><p><b>CONCLUSIONS</b>AgP may have impact on the elevation of plasma level of calprotectin.</p>

Gene expression profiles of ERCC1, TYMS, RRM1, TUBB3 and EGFR in tumor tissue from non-small cell lung cancer patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Personalized medicine becomes essential in lung cancer treatment, however lung-cancer-related gene expression profiles in Chinese patients remain unknown. In this study, the correlation of gene expression profiles and clinical characteristics in non-small-cell lung cancer (NSCLC) was investigated.</p><p><b>METHODS</b>Seventy-six Chinese patients with NSCLC were enrolled in the study to investigate mRNA expression profiles of excision repair cross complement group 1 (ERCC1), thymidylate synthetase (TYMS), ribonucleotide reductase (RRM1), class III β-tubulin (TUBB3), and epidermal growth factor receptor (EGFR) genes and their correlation with patient clinical characteristics. A novel liquidchip technology was used to detect mRNA expression levels in formalin fixed paraffin embedded tumor pathology samples. The relationships between gene expression and clinical characteristics were assessed using the Mann-Whitney test.</p><p><b>RESULTS</b>ERCC1 mRNA levels were higher in tumors from patients with metastatic disease than patients with non-metastatic disease (P = 0.021), and higher in adenocarcinomas than squamous cell carcinomas (P = 0.006). Increased TUBB3 mRNA expression levels were found in patients with performance status (PS) 1 in comparison with PS 0 (P = 0.049), with poorly differentiated tumors in comparison with tumors that were moderately and well differentiated (P ≤ 0.000 1), and with advanced stage in comparison with early stage disease (P ≤ 0.000 1).</p><p><b>CONCLUSIONS</b>ERCC1 mRNA levels were higher in metastatic adenocarcinoma NSCLC; TUBB3 mRNA levels were significantly higher in poorly differentiated tumors and in advanced stage NSCLC, which indicates the poor prognosis.</p>

Eukaryotic expression of human IL17-RD-ECD and generation of its monoclonal antibody / 生物工程学报

IL-17 Receptor D (IL-17 RD) is a cytokine receptor that mediates IL-17 signaling and plays an important role in responding to the invasion of extracellular pathogens and many inflammatory and autoimmune diseases such as rheumatoid arthritis. In this study we report the generation of a mouse monoclonal antibody against human IL-17 RD. The recombinant human IL-17RD extracellular domain (hIL-17RD-ECD) was produced in the baculovirus expression system and purified from culture medium of sf9 insect cells. The purified protein was used as a T-dependent antigen to immune Balb/C mice. B cells from the spleen of immunized mice were fused with murine cell SP2/0. Hybridoma cell lines were screened for the production of the monoclonal antibody against hIL-17-RD-ECD using ELISA. A hybridoma cell line 1F8 was found to have a high production of the antibody, which was further confirmed for the specificity by both western blot and ELISA analyses. The monoclonal antibody obtained from hybridoma 1F8 was characterized to be IgG1+Kappa subclass. This study provided a base for the further therapeutic application of the antibody on the autoimmune disease including rheumatoid arthritis.

Detection of Antibiotics-resistant Genes in Meticillin-resistant Staphylococcus aureus / 中华医院感染学杂志

OBJECTIVE To investigate the antimicrobial-resistant genes in meticillin-resistant Staphylococcus aureus(MRSA).METHODS Forty strains of MRSA were clinically isolated.Nine kinds of antimicrobial-resistant genes were analyzed by polymerase chain reaction(PCR).RESULTS The positive rates of mecA,aac(6′)/aph(2′)and tetM were all 100.0%.The positive rates of ermA/B/C,aph(3′)-Ⅲ,qacA/B,PVL and ant(4′,4″) were 82.5%,67.5%,45.0%,10.0% and 2.5%,respectively.CONCLUSIONS There are higher positive percentages of relevant resistance genes in MRSA isolates clinically.MRSA can induce clone transmition in hospital which should pay,and attention to the disinfection and isolation.

Aminoglycoside Modifying Enzymes Genes of Multi-drug Resistant Acinetobacter baumannii:A Study of 20 Strains / 中华医院感染学杂志

OBJECTIVE To investigate the aminoglycoside modifying enzymes genes of multi-drug resistant Acinetobacter baumannii(MDR-ABA).METHODS The four kinds aminoglycoside modifying enzymes genes(aac(6′)-Ⅰad,aac(6′)-Ⅰb,aac(3)-Ⅰ,ant(3″)-Ⅰ) of 20 strains MDR-ABA were detected by PCR.RESULTS Among 20 MDR-ABA strains,12 strains of aac(3)-Ⅰ,15 strains of aac(6′)-Ⅰb,18 strains of ant(3″)-Ⅰwere positive,and aac(6′)-Ⅰad was negative.The new subtype aac(6′)-Ⅰad gene has not been found.CONCLUSIONS Twenty strains MDR-ABA aminoglycoside modifying enzymes genes are found in all the 20 MDR-ABA strains.The genotype is in accordance with antibiotics resistance.It can induce clone transmitting hospital infection.It is first time to study the aac(6′)-Ⅰad gene of A.baumannii in China.

Detection of various component in the trace sample of gingival crevicular fluid / 北京大学学报(医学版)

Objective: To evaluate methods of detecting various component in the trace sample of the gingival crevicular fluid (GCF). Methods: One sample of GCF was collected from four patients with mild or moderate periodontitis. At first, one half (group A)of every sample was measured for interleukin-6 (IL-6) by enzyme-linked immunosorbent assay (ELISA) and then detected for Interleukin-1? (IL-1?) in the same sample .Another half (group B) of the sample was used as control for the measurement of Interleukin-1? (IL-1?). Another sample of GCF was collected from nine patients with abutment and non-abutment because of the distal extension teeth lost resulted from the chronic periodontitis. At first, one half (group C) of the sample was detected for tumor necrosis factor -?(TNF-?) by ELISA and then measured for elastase in the same sample. Another half (group D) of the sample was used as control for the measurement of elastase. Results: There was no significant difference of both the measured value of IL-1? absorbency (group A and B are 0.5?0.4 and 0.5?0.4, respectively, P=0.136)and that of elastase absorbency (group C and D are 1.1?0.6 and 1.1?0.6,respectively, P=0.943) between the original elution and the sample after detection of IL-6 or TNF-? in the test 1 and test 2, respectively. Moreover, the values showed high correlation (r=0.993, P=0.000 in the group A and B; r=0.979, P=0.000 in the group C and D). Conclusion: It is practicable that one sample of GCF can be reused to examine for several components of GCF.

Development of model S2000 surgeon backpack and medical corpsman backpack / 医疗卫生装备

This paper introduces the surgeon backpack and medical corpsman backpack which are newly developed for PLA.The twokinds of backpacks being waterproof,water can't penetrate intothem when they are in the rain or floating on water.The basic performance experiments,ergonomics tests and army tryout are performed.The results show that the backpacks are designed reasonably and easy touse.The burthen on the whole backpacks is distributed in the equipment uniformly due toits structure.The physical energy consumption of the person carrying the backpacks decreases due tothe same reason.The medical equipments in the backpacks can accomplish the first aid operations such as binding up,stanching,acesodyne,fastness,ventilation,infection prevention and anti-shock.

Stabilization and Strength Analysis of Inner Canister of Portable Sterilizater / 医疗卫生装备

Objective To carry out the performance evaluation to insure security of inner canister during the design phase, which is the important thin component of the portable sterilizater. Methods The software Mechanica, one of the module of Pro/Engineer was implemented to the flexure analysis of the inner canister. Results The stabilization and strength of inner canister satisfied requirements of the design. Conclusion Not only the security of design data can be proved but the cost and cycle of design can be reduced by using the method of expansion simulation analysis at the same time of the design phase of the equipment.