Gene identification in a family of hereditary hemorrhagic telangiectasia / 中华血液学杂志

Objective@#To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. @*Methods@#A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger. @*Results@#9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation: c.1502-1503insGG (p.Gly501GlyfsX18) , and mutations in ACVRL1 and SMAD4 genes were not detected. @*Conclusion@#The frameshift mutation c.1502-1503insGG (p.Gly501GlyfsX18) of the ENG gene is the genetic basis for the pathogenesis of this HHT family.

Effects of different gauze folding patterns on local hemostasis after peripherally inserted central catheters / 中华临床营养杂志

Objective To observe the effects of two different gauze folding patterns used in local hemostasis after peripherally inserted central catheters (PICC).Methods A total of 152 patients were selected and divided into two groups according to PICC date sequence as control group of 72 patients using 2.0 cm× 2.0 cm little gauze to oppress the puncture point and observation group of 80 patients using 1.0 cm× 1.5 cm gauze ball made by ourselves to oppress the puncture point.The oozing of the puncture point was observed in patients of the two groups.Results The hemostasis was better in the observation group than in the control group (x2=15.88,P＜0.01).No limb swelling happened to the patients in the observation group (x2=58.064,P＜0.01).There was statistically significant difference in hemostatic effect between the two groups.Conclusion The sterile gauze ball made by ourselves has a good effect on local hemostasis through oppressing the puncture point without any impact on blood circulation of limbs.

Clinical value of transthyretin from patients with early rheumatoid arthritis / 实用医学杂志

Objective To investigate the clinical value of transthyretin (TTR) from patients with early rheumatoid arthritis (ERA). Methods 58 patients with ERA , 34 patients with later RA (LRA) and 34 healthy control (HC) were included in the research. TTR was analyzed by ELISA, whose variance was analyzed. TTR density, disease activity score28 (DAS28) score and rheumatoid factor (RF) were tested, and their correlation with TTR was analyzed. Results Serum level of TTR with ERA significantly increased compared with that with LRA and HC (P < 0.05), no statistical significance with LRA group and HC. TTR level was no correlation with the number of swelling and tender joints, disease activity score 28, RF, ESR, CRP, anti-cyclic citrylinated peptide antibody and anti-keratin antibodies, hemoglobin, thrombocyte and albumin. Conclusion Serum level of TTR significantly increased with ERA patients, contributing to early diagnosis for RA.

Diagnosis and treatment of heterotopic pancreas at the angular notch of stomach misdiagnosed as gastric stromal tumor / 中华消化外科杂志

Heterotopic pancreas is usually defined as a presence of pancreatic tissue without any anatomical or vascular continuity,and is one of the congenital and rare diseases.The clinical manifestations are easily confused with other gastrointestinal diseases,and conventional endoscopic examination cannot provide a clear preoperative diagnosis,therefore heterotopic pancreas is often misdiagnosed.It is very important to distinguish heterotopic pancreas and other digestive diseases.In this article,the clinical characteristics,differential diagnosis and treatment method of one patient with heterotopic pancreas who was admitted to the Affiliated Hospital of Chengde Medical College in March 2014 were analyzed.

The study of influence on cyclin and cyclin-dependent kinase inhibitor of Kasumi-1 cell treated with VPA / 白血病·淋巴瘤

Objective To explore the influence on cyclin and cyclin-dependent kinase inhibitor of cell cycle of Kasumi-1 cell-derived from t(8;21)/AML treated with histone deacetylase(HDAC)inhibitor valproic acid(VPA).Methods RT-PCR assay was applied to detect mRNA expression of regulation factor of cell cycle of Kasumi-1 cell with VPA at different concentration and different time. Results VPA could down-regulate mRNA expression of cyclinD1,cyclinE1 and cyclinB1,and up-regulate mRNA expression of p21 WAF1/CIP1 with no obvious variation of mRNA level of p27KIP1. Condusion VPA could regulate cell cycle through the regulation of cyclins and cyclin-dependent kinase,arresting Kasumi-1 cell at G0/G1 phase.

Complications and conversions in myeloproliferative disorders: an analysis of 356 cases / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the complications and conversions in myeloproliferative disorders (MPD).</p><p><b>METHODS</b>Three hundred and fifty six patients with MPD were reviewed, including 78 with etiologic thrombocythemia (ET), 93 with primary myelofibrosis (MF), 185 with polythythemia vera (PV). The clinical observation, follow-up, analysis with SPSS statistic software were performed.</p><p><b>RESULTS</b>Out of the 356 cases, 101 (28.5%) developed thromboembolic events, 81 (22.8%) hemorrhage, 60 (16.9%) hypertension, 20 (5.6%) coronary heart disease, 3 (0.8%) hemolysis and 1 (0.3%) gastrointestinal ulcer, 2 (0.6%) calculus and 1 (0.3%) bone marrow necrosis. Twenty four patients (6.7%) developed MF (9 in ET, 15 in PV), 2 (0.6%) erythrocytosis (1 in ET, 1 in MF), 3 (0.8%) thrombocythemia (all in PV), 5 (1.4%) acute leukemia (2 in ET, 3 in MF) and 1 (0.3%) multiple myeloma (in ET). Eleven cases (3.1%) died, 5 (1.4%) from acute leukemia, 2 (0.6%) fatal hemorrhages, 1 (0.3%) each myocardial infarction and infectious shock, 2 (0.6%) unknown causes.</p><p><b>CONCLUSION</b>Embolism and bleeding were the main complications in MPD. Conversions among ET, MF and PV hematological malignancies could occur.</p>

Determination of ETO interaction domain within nuclear receptor co-repressor / 中华血液学杂志

<p><b>OBJECTIVE</b>To determine the ETO-interaction domain of nuclear receptor co-repressor (N-CoR) for abolishing the biological function of AML1-ETO.</p><p><b>METHODS</b>Ten different regions of N-CoR (N-CoRYs) were generated by means of polymerase chain reaction (PCR), and cloned into yeast expression plasmid pGADGL to construct pGADGL/N-CoRYs. The yeast two-hybrid technique and X-gal staining were used to determine the binding between the 10 different regions of N-CoR and ETO.</p><p><b>RESULTS</b>It was shown that the co-existence of 988-1,126 and 1,551-1,803 amino acid residues of N-CoRY was the ETO-interaction domains required for the binding with ETO.</p><p><b>CONCLUSION</b>Two domains of N-CoR that interact with two zinc fingers of ETO, and keep stable binding between the two proteins were identified.</p>