A de novo mutation leading to Marfan syndrome in a case / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.@*METHODS@#Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.@*CONCLUSION@#Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.

The development and application of the recyclable infusion pole installed on the medical flat car / 中国实用护理杂志

Objective:In order to solve the problem that it is inconvenient and easy to lose the transfusion rod when nurses use the flat car to transport the patients who need transfusion or transfusion at the same time with continuous washing by installing the recyclable transfusion rod on the original medical flat car.Methods:A recyclable infusion rod was installed in the medical flat car. According to the sequence of operation time, 160 patients in the operation room of our hospital were divided into the experimental group and the control group, 80 cases in each group. The experimental group used the medical flat car equipped with the recyclable infusion pole, and the control group used the ordinary flat car and the movable flagpole infusion pole. When the patients need to be transported after the operation, the time when the nurses go out from the operating room to pick up the flat car and the rate of the remaining transfusion rod after the patients are transported are compared to evaluate the application effect.Results:The time of taking flat car of the nurses in the experimental group was (63.34±4.72) seconds, which was significantly lower than (83.6±13.82) seconds of the control group ( t value was -29.89, P < 0.01). The rate of remaining infusion pole of the nurses in the control group was 6.25% (5/80), and that in the experimental group was 0, with statistical significance ( χ2 value was 5.16, P<0.05). Conclusion:The installation of recyclable infusion pole on the medical flat car can keep the cleanness of the infusion pole and reduce the incidence of hospital infection. When using the flat car, it can also reduce the time of taking the infusion pole again, reduce the workload of the nursing staff, put an end to the loss of the infusion pole and improve the working efficiency of the nursing staff.

Mutation analysis for a family affected with von Hippel-Lindau syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect VHL gene mutation in a pedigree affected with von Hippel-Lindau syndrome (VHL).@*METHODS@#Clinical data of the pedigree was reviewed. Patients were subjected to Sanger sequencing to detect mutation of the VHL gene. Structure of pVHL was predicted by 3D modeling using the swiss-model.@*RESULTS@#A novel c.426delT(p.V142fs) [NM_000551] mutation was found in exon 2 of the VHL gene. 3D modeling suggested that the alpha-structure of pVHL is completely absent.@*CONCLUSION@#The novel c.426delT(p.V142fs) mutation probably underlies the VHL in this pedigree.

Effect of spirolactone on cardiac function and serum brain natriuretic peptide in patients with chronic heart failure / 中国综合临床

Objective To investigate the effect of spirolactone on cardiac function and serum brain natriuretic peptide in patients with chronic heart failure( CHF). Methods Eighty-four patients with CHF were randomly divided into control group( n=42 )and observation group( n=42 ). The patients in the control group were given conventional therapy,while in the observation group were given spirolactone( 20 mg/times,2 times/day)based on treatment of the control group for six months. The clinical effects and left ventricular end diastolic diameter( LVEDd ),left ventricular ejection fraction( LVEF ) and serum brain natriuretic peptide( BNP ) of pretherapy and post-treatment between the two groups were recorded and compared. Results The total effective rate of observation group was 95. 2%(40/42),obviously higher than that of control group(80. 9%(34/42),χ2=6. 468,P=0. 028). The levels of LVEDd and BNP in two groups after treatment were(57. 8 ± 6. 2)mm and (62. 4 ± 7. 8)mm,(364. 4 ± 32. 8)ng/L and(457. 4 ± 43. 2)ng/L,significantly lower than those at before treatment((64. 6 ± 7. 4)mm and(64. 8 ± 7. 6)mm,(867. 8 ± 78. 5)ng/L and(864. 4 ± 74. 8)ng/L),while LVEF in two groups after treatment were( 49. 8 ± 5. 4 )% and( 42. 6 ± 4. 6 )%,significantly higher than those before treatment((35. 2 ± 3. 9)% and(35. 4 ± 3. 5)%),and the differences were significant(t = -3. 264, 4. 626,-5. 373,-3. 932,5. 438,-6. 548;P﹤0. 05). Moreover the changes in observation group were obvious than those in control group in terms of LVEDd,BNP and LVEF( t = -3. 425,3. 644,-2. 846;P ﹤0. 05 ) . Conclusion Spironolactone can effectively decrease the serum brain natriuretic peptide levels,improve the cardiac function in patients with chronic heart failure,and it is worthy of popularization and application.

Characteristic chromatographic profile of Zanthoxylum niridum / 中国中药杂志

<p><b>OBJECTIVE</b>To establish the characteristic fingerprint of Zanthoxylum nitidum by HPLC, and to provide a reference for the quality control of Z. nitidum in the market.</p><p><b>METHOD</b>The established HPLC characteristic fingerprint of Z. nitidum, combined with similarity evaluation and system clustering analysis method, were applied to distinguish 25 batches of samples purchased from market preliminarily, to identify the authenticity and quality of Z. nitidum ingredients.</p><p><b>RESULT</b>In the 25 batches of samples purchased from market, only 8 batches were identified as genuine with good quality, 7 batches were identified as defective, 7 batches were identified as common counterfeit Toddalia asiatica, and 3 batches were identified as counterfeit.</p><p><b>CONCLUSION</b>This method is accurate, convenient and reliable. It can be used for identification and quality control of Z. nitidum ingredients.</p>

The C-terminal portion of the nucleocapsid protein demonstrates SARS-CoV antigenicity / 基因组蛋白质组与生物信息学报·英文版

In order to develop clinical diagnostic tools for rapid detection of the SARS-CoV (severe acute respiratory syndrome-associated coronavirus) and to identify candidate proteins for vaccine development, the C-terminal portion of the nucleocapsid (NC) gene was amplified using RT-PCR from the SARS-CoV genome, cloned into a yeast expression vector (pEGH), and expressed as a glutathione S-transferase (GST) and Hisx6 double-tagged fusion protein under the control of an inducible promoter. Western analysis on the purified protein confirmed the expression and purification of the NC fusion proteins from yeast. To determine its antigenicity, the fusion protein was challenged with serum samples from SARS patients and normal controls. The NC fusion protein demonstrated high antigenicity with high specificity, and therefore, it should have great potential in designing clinical diagnostic tools and provide useful information for vaccine development.

The epitope study on the SARS-CoV nucleocapsid protein / 基因组蛋白质组与生物信息学报·英文版

The nucleocapsid protein (N protein) has been found to be an antigenic protein in a number of coronaviruses. Whether the N protein in severe acute respiratory syndrome-associated coronavirus (SARS-CoV) is antigenic remains to be elucidated. Using Western blot and Enzyme-linked Immunosorbent Assay (ELISA), the recombinant N proteins and the synthesized peptides derived from the N protein were screened in sera from SARS patients. All patient sera in this study displayed strong positive immunoreactivities against the recombinant N proteins, whereas normal sera gave negative immunoresponses to these proteins, indicating that the N protein of SARS-CoV is an antigenic protein. Furthermore, the epitope sites in the N protein were determined by competition experiments, in which the recombinant proteins or the synthesized peptides competed against the SARS-CoV proteins to bind to the antibodies raised in SARS sera. One epitope site located at the C-terminus was confirmed as the most antigenic region in this protein. A detailed screening of peptide with ELISA demonstrated that the amino sequence from Codons 371 to 407 was the epitope site at the C-terminus of the N protein. Understanding of the epitope sites could be very significant for developing an effective diagnostic approach to SARS.

A strategy for searching antigenic regions in the SARS-CoV spike protein / 基因组蛋白质组与生物信息学报·英文版

In the face of the worldwide threat of severe acute respiratory syndrome (SARS) to human life, some of the most urgent challenges are to develop fast and accurate analytical methods for early diagnosis of this disease as well as to create a safe anti-viral vaccine for prevention. To these ends, we investigated the antigenicity of the spike protein (S protein), a major structural protein in the SARS-coronavirus (SARS-CoV). Based upon the theoretical analysis for hydrophobicity of the S protein, 18 peptides were synthesized. Using Enzyme-Linked Immunosorbent Assay (ELISA), these peptides were screened in the sera from SARS patients. According to these results, two fragments of the S gene were amplified by PCR and cloned into pET-32a. Both S fragments were expressed in the BL-21 strain and further purified with an affinity chromatography. These recombinant S fragments were confirmed to have positive cross-reactions with SARS sera, either by Western blot or by ELISA. Our results demonstrated that the potential epitope regions were located at Codons 469-882 in the S protein, and one epitope site was located at Codons 599-620. Identification of antigenic regions in the SARS-CoV S protein may be important for the functional studies of this virus or the development of clinical diagnosis.