Objective To investigate the changes of the hemostatie coagulation markers in pregnancy induced hypertension (PIH)and significance.Methods The blood samples were collected from 70 normal pregnant women (control group) and 66 pregnant women with PIH (PIH group).Platelet count (PC), mean platelet volume ( MPV ), prothrombin lime (PT), partial thromboplastin time (AFIT), fibrinogen (FIB),D-dimmer (D-D)were measured.Results Compared with the control group,the level of PC,PT, APTT in the PIH group were significantly decreased [(178.32±51.08) × 10~9/L vs (186.17±40.02) × 10~9/L, (10.54±0.34) s vs(11.07±0.49) s, (26.23±3.12) s vs(28.08±4.31) s](P<0.05 or <0.01), while those of FIB,MPV,D-D were significantly increased [(5.34±0.68) g/L vs (4.02±0.73) g/L, (11.10 ± 2.31 ) fl vs (8.95 ± 1.37) fl, (0.46 ± 0.27) mg/L vs (0.18 ± 0.19) mg/L](P < 0.01 ).The levels of FIB and D-D were significantly increased in severe preeclampsia (34 cases) than those in mild preeclampsia (32 cases) (P < 0.01 ).The level of PT was lower and FIB, D-D were increased in early onset preeclampsia ( 31 cases ) than those in late onset preeclampsia (35 cases) (P < 0.05 or < 0.01 ).Conclusions There is hypercoagulative state in pregnant women with PIH.The disorders of coagulation function may be more severe in early onset preeelampsia than those in late onset preeclampsia.

Objective To report the experiences on the diagnosis and treatment of duplication of kidney ureter and bladder. Methods Nine cases of duplication of kidney ureter and bladder from 1996 to 2008 were reviewed.Six cases of duplicated kidney ureter occurred in the left side and 2 cases in the right side,1 case bilateral kidney ureteral duplication.Of 8 cases with unilateral duplicated,duplicated bladders were incompleteness.And the patient with bilateral duplicated,whose duplicated bladder was completeness,was diagnosed with duplication of urethra,uterine,bilateral ovary and oviduet tubes,and also suffered from duplicated uterine prolapse Ⅱ,vaginal anterior wall bulging and duplicated vesicocele.There were two cases whose duplicated kidney losed function because of severe hydronephrosis,and 7 cases existed kidney secretion function. Excision of duplicated kidney ureter and bladder were performed on 2 cases with non-functional duplicated kidney.6 cases had undergone duplicated bladder excision and duplicated ureteral bladder replantation.The special case had undergone duplicated urinary bladder urethra uterine and bilateral annexes excision,and duplicated ureteral bladder replantation. Results The operation was successful in all paients without leakage and ureter stump syndrome.Three months after operation,ureter bladder imaging showed no ureteral reflux in 7 cases of ureteral bladder replantation.IVU were reviewed 12 months after operation:2 cases undergoing duplicated kidney excision showed that the function of residual kidney were normal,7 cases of replantation that the shape and function of sick side kidney and duplicated kidney were good. The patient who suffered from duplicated uterine simultaneously got pregnancy 1.5 years after operation. Conclsions Image examinations may help to diagnose the duplication of kidney ureter and bladder. The main treatment is surgery. Understanding the function of duplicated kidney and the shape of kidney ureter and bladder should be considered before operation. The goal of surgery should be relieving pain,protecting the function of duplicated kidney and minimizing the risk of infection.

Objective To evaluate the efficacy and safety of HLA identical and haploidentical related allogeneic hematopoietic stem cell trans?plantation in the treatment of acute myeloid leukemia(AML)and myelodysplastic syndrome(MDS). Methods A total of 21 patients with AML and 8 patients with MDS who underwent allogeneic hematopoietic stem cell transplantation in our hospital from April 2011 to April 2016 were ana?lyzed retrospectively,including 16 cases of HLA?identical allogeneic HSCT,10 cases of haploidentical allogeneic HSCT,and 3 cases of syngeneic HSCT. BUCY2 or TBI plus CY ± chemotherapeutic agents was the regular conditioning regimen. No graft versus host disease(GVHD)prophylax?is was required for syngeneic HSCT,but cyclosporine in combination with methotraxate was essential for allogeneic HSCT,cyclosporine,methotrax?ate,antithymocyte globulin,mycophenolate mofetil and glucosteroids for haploidentical HSCT. Results All patients achieved fully donor?originat?ed hematopoiesis. Two patients died of severe acute GVHD within 100 days post HSCT. Acute GVHD with gradeⅡ?Ⅳoccurred in 23.1%(6/26) patients,chronic GVHD in 50%patients,therapy and relapse?relevant mortality was 4/29(13.8%)and 6/29(20.7%)cases within a median follow?up of 23(1?60)months,respectively. Two?year overall survival and leukemia free survival rates are 68.09%( 95%CI:45.77%?82.78%)and 60.22%(95%CI:38.19%?76.55%),respectively. High risk AML is still the main challenge to long?term leukemia free survival. Conclusion HLA identical and haploidentical allogeneic HSCT for AML and MDS is safe ,effective and feasible. Minimal residual disease monitoring and pre?ventative as well as preemptive intervention is necessary for improving prognosis of high risk AML.

BACKGROUND: Conventional hemodialysis mainly for cleaning uremic micro molecule substance, such as urea nitrogen or creatinine; however, few hemodialyses can clean uremic middle molecule substances (MMS). With prolonged dialysis duration, MMS accumulates in vivo and induces a series of complications. OBJECTIVE: To compare the efficiency of adsorptive dialysis (hemoperfusion unites hemodialysis) and conventional hemodialysis in cleaning uremic MMS. METHODS: Totally 60 maintenance hemodialysis patients were averagely divided into the adsorptive dialysis group and conventional hemodialysis group. First of all, hemoperfusion apparatus and dialyser were connected in series to take the adsorptive dialysis in the adsorptive dialysis group (hemoperfusion apparatus were equipped before dialyser). 120 minutes later, the hemoperfusion apparatus was toke off and continues to hemodialysis for 120 minutes. Duration of conventional hemodialysis was 240 minutes. Changes in clinical symptoms and levels of liver function, kidney function, serum electrolytes, hemocytes and uremic MMS were observed prior to and after treatment. RESULTS AND CONCLUSION: Adsorptive dialysis could remove the MMS notably. Compared with the conventional hemodialysis group, a single 120 minutes treatment could decrease MMS significantly (P < 0.05). The platelet levels were obviously decreased in the adsorptive dialysis group after treatment (P < 0.05), which were significantly different from the conventional hemodialysis group (P < 0.05). There was no significant difference in liver function, kidney function or serum electrolytes concentration. But related symptoms, such as the skin itch, sleep disorders and myalgia, were relieved more or less.

OBJECTIVE: To analyze the clinical features and genetic variants of two patients from a pedigree affected with Smith-Lemli-Opitz syndrome and explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the pedigree were collected. Whole exome sequencing was carried out to identify the potential variants. Suspected variants were verified by Sanger sequencing of the family members. RESULTS: The proband and her sister both presented with feeding difficulty, facial dysmorphism, seizures, and mental and speech retardation. The third child of this family presented with feeding difficulty, poor weight gain and severe malnutrition after birth. He had died of unknown cause at 6 months without genetic testing. The fourth child was a healthy boy. Genetic testing showed that both the proband and her sister have carried c.127G>T (p.Val43Phe) and c.820_825del (p.Asn274_Val275del) compound heterozygous variants of the DHCR7 gene (NM_001360.2), but the fourth child carried neither of the variants. The two variants were unreported in the literature and disease-related databases, and were not included in the 1000G and gnomAD databases. The c.820_825del variant may affect the sterol-sensitive region of the DHCR7 protein, which can lead to deletion of two amino acids at positions 247 and 275, causing truncation of the DHCR7 protein. It is speculated that this may affect the stability of protein's spatial conformation, thereby decrease the activity of the enzyme. The c.127G>T variant may affect the first transmembrane region of the protein, which is involved in the transmembrane transport of proteins. Multiple software predicted it to be harmful. Conservation analysis suggested that the three amino acids all locate in a highly conserved region of the protein. In consideration of the clinical phenotype, family history and result of genetic testing, we speculated that both patients had Smith-Lemli-Opitz syndrome due to variants of the DHCR7 gene. CONCLUSION This pedigree has enriched the phenotypic and genotypic data of Smith-Lemli-Opitz syndrome, which clarified the genetic etiology of the patients and provided a basis for genetic counseling of this pedigree.
China ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Oxidoreductases Acting on CH-CH Group Donors/genetics* ; Pedigree ; Smith-Lemli-Opitz Syndrome/genetics*

Objective: To analyze the characteristic mutations of epitopes in HBV Pre-S/S region in HIV/HBV co-infected patients’ peripheral blood to provide basic data for studying the pathogenesis of HIV/HBV co-infection. Methods: The chronic hepatitis B infected patients admitted to the Infectious Disease Center of the Eighth People′s Hospital of Guangzhou from January 2009 to December 2011 were enrolled into HIV/HBV co-infected group and HBV mono-infected group according to the result of HIV antibody detection respectively before treatment. HBV DNA in serum was extracted and Pre-S/S region of HBV DNA was amplified by nested-PCR. After sequencing of the obtained PCR products (direct sequencing), ContigExpress software was used for sequence splicing and BioEdit software was used for sequence alignment. With reference to the standard sequence of the matched genotype HBV, mutants of HBV Pre-S/S region in HIV/HBV co-infected group and HBV mono-infected group were analyzed respectively. Statistical analysis was performed by chi-square test with SPSS19.0 statistical analysis software. Results: HBV Pre-S/S fragments were successfully amplified from 150 patients, including 90 cases of HIV/HBV co-infected group and 60 cases of HBV mono-infected group, with matched gender, age, genotype, HBeAg status, alanine aminotransferase (ALT), aspartate aminotransferase (AST). The result of analyzing mutants of HBV Pre-S/S region indicated that the incidence of mutation in all epitopes for cytotoxic T cells (CTL cells) was higher in the HIV/HBV co-infected group, and Pre-S2 aa1-15 epitope was significantly higher (χ²=6.964, P=0.008). The incidence of deletions in PreS2 aa1-15 epitope in HIV/HBV co-infected group (11.1%) was higher than HBV mono-infected group (3.3%) (χ²=2.959, P=0.085). In the B cell epitopes, the incidence of mutations in Pre-S2 aa1-26 in the HIV/HBV co-infected group was significantly higher than HBV mono-infected group (χ²=6.924, P=0.010), and there was no statistical significance between two groups in other B cell epitopes. No differences in helper T cell (Th cell) epitopes were found between the two groups. Conclusions Co-infection with HIV increased the CTL cell epitopes’ mutations in the HBV Pre-S/S region, especially the 5′ end epitope mutations in Pre-S2 region, which indicated that HBV mutation is related to the host immune status, and showed guiding information for further study on the pathogenesis of HIV/HBV co-infection

Objective:To investigate the expressions and significances of autophagy-related genes Beclin-1, LC3 and p62 in esophageal squamous cell carcinoma (ESCC).Methods:The clinical data of 112 patients with primary ESCC who underwent surgery at the 81st Group Army Hospital of Chinese PLA from January 2015 to December 2016 were retrospectively analyzed. Immunohistochemistry was used to examine the expressions of Beclin-1, p62 and LC3 proteins in 112 ESCC tissues and 31 adjacent normal esophageal mucosa tissues. Furthermore, the expressions of the above three autophagy-related markers in ESCC and the relationship between their expressions and the clinicopathological characteristics of patients were analyzed.Results:The positive expression rates of Beclin-1, LC3 and p62 in ESCC tissues were 32.14% (36/112), 37.50% (42/112) and 63.39% (71/112), The positive expression rates of Beclin-1, LC3 and p62 in adjacent normal esophageal mucosa tissues were 61.29% (19/31), 64.52% (20/31) and 32.26% (10/31), and the differences were statistically significant ( χ2 values ??were 8.715, 7.216 and 9.584, all P < 0.01). The positive expression rates of Beclin-1 and LC3 in ESCC were lower than those in adjacent normal esophageal mucosa tissues, and the positive expression rate of p62 in ESCC was higher than that in adjacentnormal esophageal mucosa tissues. In ESCC patients, the expression of Beclin-1 was related to histological grade, infiltration depth, TNM staging and lymph node metastasis (all P < 0.05); the expression of LC3 was related to infiltration depth and TNM staging (both P < 0.01); the expression of p62 was related to lymph node metastasis ( P < 0.01). In ESCC, the expression of LC3 was positively correlated with the expression of Beclin-1 ( r = 0.731, P = 0.001), and negatively correlated with the expression of p62 ( r = -0.215, P = 0.023). Conclusions:Autophagy plays a certain role in the occurrence and development of ESCC. Combined detection of autophagy-related genes Beclin-1, p62 and LC3 can assist clinical diagnosis and guide follow-up comprehensive treatment.

【Objective】 To identify antibody specificity in an elderly patient with hydronephrosis accompanied by ureteral stones and shock who had multiple antibodies. 【Methods】 Microcolumn gel method was used to screen unexpected antibodies of red blood cells and identify antibodies. Enzyme method and antibody absorption method were used to help judge the specificity of antibodies in patients.The ABO blood type, Rh blood type and MNS blood type of patient were determined by saline tube method. 【Results】 The patient′s blood types were O, CCDee, NNss, and a combination of anti-E, anti-c, anti-M and anti-S antibodies was detected. 【Conclusion】 Repeated blood transfusion may lead to the presence of one or more unexpected antibodies in patients. Patients with multiple or high-frequency antibodies may experience difficulties in identification and delayed blood use.