RESUMEN

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BßAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BßSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BßAla98Asp and p.BßSer473* were pathogenic. Protein models demonstrated that the p.BßAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BßSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BßAla98Asp heterozygous missense mutation and the p.BßSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.

Asunto(s)

RESUMEN

In March 2017, a severely burned male patient aged 36 years with hypovolemic shock was admitted to our hospital. The patient received large quantities of antibiotics and blood products and repeated skin graft after admission, and then he suffered wound errhysis and throat congestion. The patient was healthy before without family history of bleeding or thrombosis disease. Laboratory tests showed that prothrombin time and activated partial coagulation time were remarkably prolonged, blood coagulation factor Ⅴ activity was extremely low, and the result of qualitative test of coagulation factor inhibitor was positive. Acquired blood coagulation factor Ⅴ deficiency was diagnosed. After application of dexamethasone (5 mg, twice per day) and infusion of fresh frozen plasma, blood coagulation indicators of patients recovered in 4 days, the result of qualitative test of coagulation factor inhibitor was negative, and bleeding symptoms were improved.

Asunto(s)

RESUMEN

Tumor metastasis is the main reason of cancer-related death for gastric cancer (GC) patients and gene expression microarray data indicate that kinesin family member 26B (KIF26B) is one of the most upregulated genes in metastatic GC samples. Specifically, KIF26B expression was upregulated in a stepwise manner from non-tumorous gastric mucosa, primary GC tissues without metastasis, via primary GC tissues with metastasis, to secondary lymph node metastatic (LNM) foci. Increased expression of KIF26B was correlated with tumor size, positive LNM or distant metastases and poor prognosis. KIF26B, negatively regulated by miR-372, promoted GC cell proliferation and metastasis in vitro and in vivo. Mechanistic investigations confirmed that the main target of KIF26B was the vascular endothelial growth factor (VEGF) signaling pathway, particularly by inhibition or overexpression of VEGFA, PXN, FAK, PIK3CA, BCL2 and CREB1. Thus, KIF26B, a novel oncogene regulated by miR-372, promotes proliferation and metastasis through the VEGF pathway in GC.

Asunto(s)

RESUMEN

OBJECTIVE: The aims of this study were to determine if characterization of serum concentrations of interferon-gamma inducible protein-10 (IP-10), fractalkine, and their receptors (CXCR3 and CX3CR1) were predictive of acute allograft rejection in kidney transplant recipients. METHODS: Kidney transplant recipients (n = 52) were enrolled in this study and divide into either the acute rejection (AR, n = 15) or non-acute rejection (NAR, n = 35) groups. Serum samples from recipients were collected 1 day prior to transplantation and on days 1, 3, 5, 7, and 9 post-transplantation. The accuracy of chemokine concentrations for predicting acute rejection episodes was evaluated using receiver operator characteristic (ROC) curves. RESULTS: AR was diagnosed in 15 patients based on histologic changes to renal biopsies. AR patients had significantly higher serum fractalkine, CXCR1, IP-10, and CXCR3 levels compared to levels observed in the NAR group and healthy controls. Fractalkine and IP-10 had the largest area under the ROC curve at 0.86 (95% confidence interval: 0.77-0.96). Following steroid therapy, chemokine levels decreased, which may serve to predict the therapeutic response to steroid therapy. CONCLUSION: Measuring serum levels of fractalkine, IP-10, and their receptors (especially the fractalkine/IP-10 combination) may serve as a noninvasive approach for the early diagnosis of renal allograft rejection.

Asunto(s)

RESUMEN

INTRODUCTION: The dormancy of Davidia involucrata seeds normally lasts for an extended period of time and because of this unique property the species is an excellent model for studying the molecular mechanisms of plant dormancy. The use of minimal plant material is desirable for RNA extraction since D. involucrata is a rare plant and it is relatively difficult to collect large amounts of seeds in order to perform molecular biology studies. OBJECTIVE: To improve the quality of RNA obtained from seeds of D. involucrata by eliminating the oxidation of polyphenols during extraction and by preventing polysaccharides and other impurities from being extracted. METHODS: A previously described method was modified by the addition of 4% (w/v) poly(N-vinyl-2-pyrrolidone) to the dry seeds during grinding and by adding 5% (v/v) beta-mercaptoethanol and 28% (v/v) ethanol to the extraction buffer. Two further centrifugation steps (5000 and 8000 rpm) were utilised and one-seventh volume of ethanol was incubated with the supernatant at 4 degrees C for 2-3 h prior to the precipitation of RNA. RESULTS: Following these modifications, an effective method was established for total RNA extraction from a small amount of dry seeds of D. involucrata. The isolated RNA was shown to have high purity and integrity by gel electrophoresis and spectrophotometry, and was confirmed to be suitable for RT-PCR and the construction of cDNA libraries. CONCLUSION: The modified method reduced the amount of seeds required for extraction of total DNA and was beneficial for preserving the endangered species.

Asunto(s)

RESUMEN

A amino-terminated G 4.0 dendrimer-like polyamidoamine (PAMAM) immobilized silica gel (PAMAMSG) was prepared with a divergent method by repeating two processes: (1) Michael addition of methyl acrylate (MA) to surface amino groups; and (2) amidation of the resulting esters with ethylenediamine (EDA) from gamma-aiminopropyl silica gel (APSG) core. It was then used for the first time as microcolumn packing for the flame atomic absorption spectrometry (FAAS) determination of trace or ultra trace Pd(II), after flow injection (FI) online preconcentration and separation process. A limit of detection (LOD) of 3.9ngml(-1) was achieved when 0.200mugml(-1) Pd(II) was preconcentrated in 0.2moll(-1) HCl medium with a sampling flow rate of 6.0mlmin(-1) for 60s and the relative standard deviation (R.S.D.) was 1.7%. The proposed method was successfully used for the determination of Pd in two metallurgical samples.

RESUMEN

A silica gel based sorbent containing rhodanine as functional group (RDSG) was prepared. Its adsorption and separation characteristics for Ag(I), Au(III) and Pd(II) were studied by flow-injection (FI) on-line preconcentration. Influence of different experimental parameters such as acidity, eluent, co-existing ions were investigated. Trace amounts of Ag, Au and Pd could be efficiently adsorbed by rhodanine-bonded silica gel from acidic solution and eluted with thiourea solution. Common co-existing ions exhibited virtually no interference to the preconcentration and determination. The adsorption capacity of RDSG was 0.0352, 0.107 and 0.122 mmol/g for Ag, Au and Pd, respectively. Detection limits of 0.004, 0.022 and 0.019 microg/mL for Ag, Au and Pd, respectively, were achieved with a sampling time of 60 s at a flow rate of 5.0 mL/min. The relative standard deviation were 0.5%, 0.9% and 1.7% for 0.040 microg/mL Ag, 0.200 microg/mL Au and 0.300 microg/mL Pd. The sorption property did not change after 1,000 cycles of sorption-desorption. The contents of Ag and Au in three national certified ore samples and Pd in a secondary nickel alloy, an anode slime and a CoCl2 electrolytic solution were determined. The results showed good agreement with the certified values.

RESUMEN

BACKGROUND: Approximately 20% to 60% of insulinomas cannot be localized preoperatively, and 10% to 20% cannot be found even during surgery. The operative complications associated with the blind surgical explorations are relatively high. METHODS: Between January 1987 and December 1995, intraoperative ultrasound was used to localize insulinomas and guide surgical procedures in 28 patients. RESULTS: Insulinomas were found by intraoperative systematic palpation in 24 patients (85.7%), while intraoperative ultrasound localized the tumors in 27 patients (96.4%). By the combination of these two techniques, all tumors were discovered. The surgical procedures were guided by intraoperative ultrasound. The operative complication rate was 14.3%. CONCLUSION: Intraoperative ultrasound can accurately localize insulinoma, and delineate the spatial relationship between tumor and vital structures, such as pancreatic duct, common bile duct, and critical blood vessels. It can thereby help to increase the successful rate of surgery and avoid unnecessary blind pancreatectomy.

Asunto(s)

RESUMEN

BACKGROUND: The high incidence of residual stones has been a major problem in the treatment of hepatolithiasis. Although various imaging techniques have been used to locate the stones, and many different postoperative procedures have been used as remedial modalities to remove the residual calculi, results have been far from satisfactory. OBJECTIVES: To remove obstinate hepatic stones and reduce the incidence of residual calculi. DESIGN: Prospective clinical trial. SETTING: Medical university-affiliated hospital. PATIENTS AND METHODS: Ten patients who had residual intrahepatic stones after conventional operative procedures underwent intraoperative ultrasound (IOUS)-guided transhepatic lithotomy between July 1988 and July 1995. This surgical technique includes accurately locating stones with IOUS, choosing a surgical approach path under the guidance of IOUS while avoiding critical blood vessels and uninvolved biliary tracts, dividing hepatic parenchyma to the involved biliary ducts, and removing the obstinate calculi using the real-time image of IOUS, which is able to monitor the movement of the lithotomy instruments without interruption. MAIN OUTCOME MEASURES: Clinical practical value of IOUS-guided transhepatic lithotomy in the treatment of residual hepatic stones. RESULTS: Complete removal of the stones was achieved in all 10 patients. There were no severe complications or mortality at a median follow-up of 39 months. CONCLUSIONS: IOUS-guided transhepatic lithotomy can greatly decrease the incidence of residual hepatic stones. It is accurate and safe. As a new surgical procedure, IOUS-guided transhepatic lithotomy should be an alternative modality in the management of hepatolithiasis, although the long-term benefits still need to be observed.

Asunto(s)

RESUMEN

Complete clearance of intrahepatic stones has long been a major surgical challenge. To reduce the incidence of residual stones, we used intraoperative ultrasonography (IOUS) to localize them and guide lithectomy in 38 patients with hepatolithiasis between July 1988 and December 1993. All patients had multiple intrahepatic stones; 24 had accompanying extrahepatic calculi. Hepatic stones were confined to the left intrahepatic biliary tract in 13 patients, to the right in 9, and in both lobes in 16. Twenty-three patients underwent common bile duct exploration followed by T-tube drainage, 8 had transhepatic lithotomy with or without choledocholithotomy, 3 had choledocolithotomy and Roux-en-Y side-to-side choledochojejunostomy, and 2 had hepaticojejunostomy, left lobectomy was performed in the remainder. In 35 patients cholecystectomy was performed at the same time. Complete clearance of the stones was achieved in 36 patients (94.7%). The incidence of retained stone was decreased to 5.3%. No associated complications occurred. IOUS can accurately localize intrahepatic calculi, directly orient lithotomy instruments to approach the stones, demonstrate the spatial relation between stone and intrahepatic critical structure, and thereby choose an optical route for transhepatic lithotomy. Imaging can be repeated at any time with no radiation exposure to the patient or the medical staff.

Asunto(s)

RESUMEN

A new functional resin with a long functional side chain was synthesized by modification of aminated macroporous poly(vinyl chloride) resin with cyanoethylene and ethylenediamine. Traces of Au(III), Pt(IV) and Pd(II) in aqueous solution were quantitatively adsorbed in the acidity range of pH 4 and C(H(+)) 3 M. The rate of equilibration is high; Cu(2+), Fe(3+), Ni(2+), etc. exhibit little interference on the adsorption of the sought noble metals. The saturated adsorption capacities for Au(III), Pt(IV), Pd(II) and Ir(IV) in 2 M HCl were 4.0, 1.57, 2.26, 1.85 mmol g(-1). Adsorbed ions can be quantitatively desorbed by 4% thiourea +0.25 M H(2)SO(4). The resin has good reusability, and can be used for preconcentration and separation of Au(III), Pt(IV) and Pd(II) prior to their determination by ICP-AES with satisfactory results.

RESUMEN

Based on the principles of Shafik's prostatic commissurotomy, we have developed a new transurethral prostatic commissurotomy, which is characterized by cutting, layer by layer and section by section, the urethral mucosa, the bladder muscle layer and the prostate tissue within combined part of the urethra and prostate and by cutting the prostatic capsule with electrocoagulation. The comparison of clinical objective indexes has proved that the method is applicable to high risk patients with prostate hyperplasia and neck contracture leading to urethral obstruction after TURP.

Asunto(s)

RESUMEN

On the basis of anatomical studies of renal vessels, segmental polar nephrectomy has been designed. The key point is to identify blood-loss area of the segmental pole by interruption of the upper or the lower segmental polar artery before partial nephrectomy. The merits of the procedure are non-compression of the renal pedicle vessels, appropriate extent of the segmental polar nephrectomy and less hemorrhage.

Asunto(s)

RESUMEN

The anatomical structure of the renal sinus was studied in 160 adult cadaver kidneys. Important anatomical features were described in the capsule of the sinus fatty tissue, including capsular septum of the hilus renalis, and the distribution of the posterior pelvic transverse artery. The implications of these findings in stone surgery are discussed.

Asunto(s)

RESUMEN

The safest percutaneous nephrocentesis route is through the posterolateral aspect of the kidney. From study of 160 kidneys from adults at autopsy, we conclude that the most favorable nephrocentesis area is the lower major renal calyx and its minor calyces or the upper minor calyces. We believe that the lateral aspect of the middle calyces may be an area for safe nephrocentesis.

Asunto(s)