A 52-year-old female patient diagnosed with hereditary cerebral small vessel disease(CSVD),with clinical manifestations of recurrent stroke and mild cognitive impairment was reported.There was no history of hypertension or diabetes,and her maternal grandparents were consanguineous.Her maternal grandmother and mother died of cerebral infarction.Cranial magnetic resonance imaging showed multiple lacunar cerebral infarcts,cerebral white matter degeneration and microhemorrhagic foci,and whole exome sequencing reported a heterozygous mutation c.947A＞G in the high-temperature requirement A serine peptidase 1(HTRA1).For patients with CSVD,the family history should be asked,and for patients with suspected hereditary CSVD,the possibility of HTRA1 heterozygous mutations should be considered.Reasonable use of genetic testing methods to screen high-risk families of CSVD patients and further guide treatment.

Objective To explore the curative effect and complication of transcutaneous transcatheter uterine arterial embolization in the treatment of postpartum hemorrhage .Methods 76 cases with postpartum hemorrhage of conservative treatment invalid in the General Hospital of Huainan Oriental Hospital Group from January 2011 to January 2017 , received digital subtraction angiography ( DSA ) to make clear the site of hemorrhage , then bilateral uterine artery embolization was given .Results Seventy -six patients have stopped bleeding immediately after embolization,3 cases were significantly reduced .Bleeding stopped completely after nearly one week of treatment .Mild fever after embolization appearred unable to pain in the lower abdomen ,1 case had hip pain .Conclusion Transcuta-neous transcatheter uterine artery embolization in the treatment of postpartum hemorrhage has advantages of quick hemostasis,less trauma,less complications and preserving the uterus fertility ,which has high clinical value .

OBJECTIVETo explore the primary site and pathological feature of neuroendocrine neoplasm (NEN), especially the NEN of digestive system.

METHODSClinicopathological data of NEN patients at China-Japan Friendship Hospital from January 2012 to December 2016 were retrospectively analyzed. Tumor primary sites were summarized. Association between tumor site and pathological grading in gastroenteropancreatic neuroendocrine neoplasm(GEP-NEN) was examined.

RESULTSThere were a total of 903 cases of NEN. Sites of primary tumor included the digestive system in 699 cases(77.4%), the thorax(including lung, thymus and mediastinum) in 87 cases(9.6%), other sites in 60 cases (6.6%), unknown in 57 cases(6.3%). Among 699 GEP-NEN cases, the primary sites included the stomachin in 207 cases (29.6%), pancreas in 201 (28.8%), rectumin in 185 (26.5%), duodenum in 43(6.2%), jejunum and ileum in 18(2.6%), appendix in 15 (2.1%), gallbladder in 11(1.6%), esophagus in 10(1.4%), and the colon in 9 cases (1.3%). Pathologically, the tumor grading was neuroendocrine tumor (NET) G1 in 336 cases(48.1%), NET G2 in 203 cases (29.0%), neuroendocrine carcinoma (NEC) G3 in 139 cases (19.9%). All the esophagus NEN(10/10), most gallbladder NEN(9/11) and colon NEN(6/9) were poorly-differentiated NEC (G3), while all appendix NEN(15/15), most stomach NEN(147/207, 71.0%), pancreas NEN (156/201, 77.6%), rectum NEN (169/185, 91.4%), duodenum NEN (31/43, 72.1%), jejunum and ileum NEN(16/18, 88.9%) were well-differentiated NET G1 or G2.

CONCLUSIONSThe most common primary site of NEN is the digestive system. The stomach, pancreas and rectum are most common primary sitesof GEP-NEN. Difference in pathological grading is quite greatin different primary sites of GEP-NEN. Most NENs fromesophagus, colon and gallbladder are poorly-differentiated NEC.

OBJECTIVETo investigate the effect of monoamine oxidase inhibitor phenelzine on proliferation, apoptosis and histone modulation in acute lymphoblastic leukemia cell line Molt-4 cells.

METHODSThe effect of Phenelzine on cell proliferation was detected by MTT. Apoptotic rate was measured by flow cytometry. The variation of apoptosis associated proteins Caspase-3, Bcl-2 and Bax, cyclin-dependent kinase inhibitor p21, tumor suppressor protein p15, and the expression level of histone methylation of H3K4, H3K9 and histone acetylation of H3, DNMT1 were detected by Western Blot.

RESULTS① Molt-4 cell proliferation rates were (87.68±3.54)%, (67.84±3.24)%, (51.48±3.37)%, (28.72±2.56)% respectively after exposured to phenelzine at 5, 10, 15, 20 μmol/L for 24 h, P<0.05. ② After 10 μmol/L of phenelzine exposure for 24, 48, 72 h, cell proliferation rates were (67.84±3.24)%, (50.24±2.01)%, (40.31±2.25)%, P<0.05. ③ The apoptotic rates were (13.64±2.58)%, (31.24±3.42)%, (56.37±4.26)% after phenelzine treatment at 5, 10, 20 μmol/L for 24 h, which was concentration dependent. ④ Phenelzine could upregulate the expression of Bax, caspase-3, p21, and downregulate Bcl-2 expression. Phenelzine upregulated the methylation level of histone H3K4me1, H3K4me2 and histone acetylated H3, while it didn't change the level of histone H3K4me3, H3K9me1, H3K9me2. ⑤ Phenelzine inhibited DNMT1 expression and promoted p15 expression.

CONCLUSIONSPhenelzine increased the methylation of histone H3K4me1, H3K4me2, acetylation of histone H3 and p21, and decreased the expression of DNMT1 and p15, and ultimately inhibited the proliferation and apoptosis of Molt-4 cells.

Acetylation ; Apoptosis ; drug effects ; Apoptosis Regulatory Proteins ; metabolism ; Cell Line, Tumor ; Cell Proliferation ; Cyclin-Dependent Kinase Inhibitor p15 ; metabolism ; Cyclin-Dependent Kinase Inhibitor p21 ; metabolism ; DNA (Cytosine-5-)-Methyltransferase 1 ; DNA (Cytosine-5-)-Methyltransferases ; metabolism ; Histones ; metabolism ; Humans ; Methylation ; Phenelzine ; pharmacology

Objective To discuss whether preoperative extracorporeal shock wave lithotripsy (ESWL) could improve the efficacy of percutaneous nephrolithotomy (PCNL) for complicated renal calculi. Methods 160 cases of complicated renal calculi patients were divided into observation group (80) and control group (80) at random. Take conventional PCNL treatment for control group, and ESWL treatment one day before conventional PCNL treatment for observation group. Record the operation time, intraoperative blood loss, postoperative calculi clearance rate, complications, treatment costs, hospital stays of two groups of patients, then compare the curative effects between the two groups. Results Results are very different in the two groups, and the therapeutic effect of observation group is much better than control group (P < 0.05). Conclusions For complicated renal calculi, compared with conventional PCNL, in reducing the residual stone rate shorting the operation time, reducing the operation number, complications, treatment costs and the length of hospital stay, PCNL preoperative ESWL have obvious advantages. It is a kind of both economic and safe and effective treatment method.

DHA (22:6n-3) is a Ω-3 polyunsaturated fatty acid with 22 carbon atoms and 6 double bonds, which has important biological functions in human body. Human and other mammals synthesize only limited amounts of DHA, more requirements must be satisfied from food resources. However, the natural resources of DHA (Mainly deep-sea fish and other marine products) are prone to depletion. New resources development is still insufficient to satisfy the growing market demand. Previous studies have revealed that the mammals can increase the synthesis of DHA and other long-chain polyunsaturated fatty acids after transgenic procedures. In this study, mammalian cells were transfected with Δ6, Δ5 desaturase, Δ6, Δ5 elongase, Δ15 desaturase (Isolated from nematode Caenorhabditis elegans) and Δ4 desaturase (Isolated from Euglena gracilis), simultaneously. Results show that the expression or overexpression of these 6 enzymes is capable of conversion of the o-6 linoleic acid (LA, 18:2n-6) in DHA (22:6n-3). DHA content has increased from 16.74% in the control group to 25.3% in the experimental group. The strategy and related technology in our research provided important data for future production the valuable DHA (22:6n-3) by using genetically modified animals.
Animals ; Caenorhabditis elegans ; enzymology ; Cells, Cultured ; Docosahexaenoic Acids ; chemistry ; Euglena gracilis ; enzymology ; Fatty Acid Desaturases ; biosynthesis ; Linoleic Acid ; chemistry ; Mammals ; Transfection

OBJECTIVE:To optimize the matrix formulation and preparation technological parameters of Compound Bingjia Cream. METHODS:To prepare water phase and oil phase matrix solutions respectively,and then the former was added into the lat-ter and well mixed together. The matrix formulation was optimized with the overall scores of appearance,high temperature,low temperature and oil and water stratification after centrifugal test as the evaluated indexes. High performance liquid chromatography was used to determine the content of metronidazole. Gas chromatography was adopted to determine the content of borneol. With the matrix temperature at the time of adding the main drug mixture,matrix quantity,emulsification method and emulsification time as observed factors,and the overall scores of metronidazole content,borneol content and the overall scores of preparation(the overall scores of appearance and stability tests) as the observed indexes,L9(34) orthogonal test was designed to optimize the preparation technological parameters of Compound Bingjia cream and verification for technology was conducted. RESULTS:The optimal oil phase matrix formulation was as follows as cetanol of 10 g,glyceryl monostearate of 16 g,stearic acid of 20 g,albolene of 8 g, while the optimal water oil matrix formulation as triethanolamine of 2 g,glycerinum of 24 g. The optimal preparation technological parameters were the matrix temperature of 50℃at the time of adding the main drug mixture,matrix of 300 g,emulsification meth-od of colloid emulsification,emulsification time of 30 min,where metronidazole content was 1.83%,borneol content 2.88%. The results of 3 verification tests showed the overall scores were all 25,with metronidazole content of 2.1%,2.1%,2.2%(RSD=2.71%,n=3),borneol content of 3.2%,3.3%,3.1%(RSD=3.12%,n=3). CONCLUSIONS:The optimal matrix formulation and technological parameters of the preparation are stable and feasible,and suitable for mass production.

OBJECTIVETo investigate the association between single nucleotide polymorphisms (SNPs) in glutathione peroxidase 1 (GPX-1) gene, rs3448, rs1050450, rs1800668, and rs1987628, and the susceptibility to noise-induced hearing loss (NIHL) among Chinese Han population.

METHODSA case-control study was conducted to investigate the threshold shift of the left ear at 3000 Hz among the workers of Chinese Han population who were exposed to the same level of sound pressure. Two hundred and one (10%) of the subjects with the highest level of threshold shift were recruited in susceptible group, while 202 of (10%) of the subjects with the lowest level of threshold shift were recruited in tolerant group. Targeted occupational health survey and questionnaire survey were performed among these people. For each individual, genome DNA was extracted from 5 ml of fasting peripheral venous blood. Four SNPs (GPX-1 rs3448, rs1050450, rs1800668, and rs1987628) were genotyped by the TaqMan SNP genotyping kit. The main effects of SNPs and the association between NIHL susceptibility and SNPs were analyzed by logistic regression.

RESULTSThe C allele of rs1987628 was a risk factor for NIHL, with an odds ratio (OR) of 2.531 (95%CI: 1.878-3.411) as compared with the T allele. The CC genotype of rs1987628 was more associated with NIHL than the TT genotype (OR = 3.500, 95% CI: 1.984-6.174; adjusted OR = 3.544, 95% CI: 1.974 ∼ 6.364).

CONCLUSIONAmong Chinese Han population, GPX-1 SNP rs1987628 may be associated with the susceptibility to NIHL.

Adult ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Glutathione Peroxidase ; genetics ; Hearing Loss, Noise-Induced ; genetics ; Humans ; Male ; Polymorphism, Single Nucleotide ; Young Adult

Objective To evaluate the predictive value of modified early warning score (MEWS) and SMART-COP score on mechanical ventilation in patients with severe influenza A H1N1. Methods Fifty cases diagnosed with severe influenza A H1N1 were retrospectively analyzed. The MEWS and SMART-COP score were calculated. The area under the receiver operating characteristic (ROC) curve (AUC) was evaluated using ROC curve. MEWS, SMART-COP score and AUC were analyzed by Z test. Results The AUCs of MEWS and SMART-COP score for predicting mechanical ventilation were 0. 923 and 0. 889, respectively, which were not significantly different (Z=0. 548, P =0. 584).Conclusion Both of MEWS and SMART-COP score are predictive factors of mechanical ventilation in the patients with severe influenza A H1N1.

Objective To investigate the clinical features of aortic dissection (AD) and emergency treatments. Methods Data from 784 patients with aortic dissection were collected in the Department of Emergency from January 2000 through December 2009. A retrospective analysis was carried out to determine the survival rate, mortality rate and treatment efficiency. Results Pain was the most common onset symptom (77.7% , 609/784). The majority of patients (86.5%) had essential hypertension (678/784). All the patients with preoperative diagnosis of aortic dissection underwent emergency medical intervention by internists resulting in 81.5% survival rate (639/784) and 18.5% mortality rate (145/784). There were 157 patients without improvement (20.0% ) and the total efficiency rate was (83. 1% ). The efficiency rate of conventional treatment was 76.4% , while the efficiency rate of triple four-procedure treatment was 89. 8% (P<0.05). Of them, 139 patients (17. 7% ) died in the hospital. Among them,. 26 patients died within 24 hours (18.4% ) and 47 cases died within 48 hours (33. 8% ) and 66 patients died within 72 hours (47.2% ). There were 92 patients who refused treatments after diagnosis, and among them, 81 patients died within 72 hours (88.04% ). The difference in mortality rate between two groups was significant (P<0.05). Conclusions The diagnosis of aortic dissection depends on detailed history, physical examination and CT or MRI imaging. Analgesia, sedation and control of blood pressure are essential for emergency treatments. Early diagnosis and effective emergency treatments are the critical strategy for the early surgical intervention and time window for further treatment to improve the survival rate of AD.