Adult ; Female ; Graft vs Host Disease ; diagnosis ; Hepatitis, Autoimmune ; diagnosis ; Humans

OBJECTIVETo determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.

METHODSPolymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.

RESULTSA missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.

CONCLUSIONThe E122G mutation in human OTC gene may cause late onset OTC deficiency.

Age of Onset ; Base Sequence ; Child, Preschool ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Family Health ; Fatal Outcome ; Female ; Humans ; Male ; Models, Molecular ; Mutation, Missense ; Ornithine Carbamoyltransferase ; chemistry ; genetics ; Ornithine Carbamoyltransferase Deficiency Disease ; enzymology ; genetics ; pathology ; Pedigree ; Polymorphism, Single-Stranded Conformational ; Protein Structure, Secondary

To study the effects of recombinant human tumor necrosis factor-alpha (rhTNF-alpha) on HL-60 cells in vitro and in vivo, MTT and colony forming assay were used to examine the effects of rhTNF-alpha on proliferation of HL-60 cells; AO/EB (acridine orange-ethidium bromide) staining, Annexin-V flow cytometry analysis and TUNEL assay were used to detect apoptotic cells. The effect of rhTNF-alpha on xenograft growth of HL-60 cells was evaluated by tumor inhibition rate, histology, ultrastructure and TUNEL assay. The results showed that rhTNF-alpha inhibited the proliferation of HL-60 cells in a dose-dependent manner. Staining of cells with AO/EB revealed that rhTNF-alpha induced nuclear chromatin condensation and fragmentation. Positive Annexin V-FITC on cell membrane showed that rhTNF-alpha induced apoptosis of HL-60 cells in a dose-dependent manner. TUNEL assay showed that the apoptotic percentage of HL-60 cells reached 37.5% when incubated with 3200 U/ml rhTNF-alpha for 48 hours. In vivo rhTNF-alpha inhibited xenograft growth of HL-60 cells with the highest inhibition rate of 60.33%. Pathologically it was found that there were necrotic areas in the tumors of groups treated with rhTNF-alpha. There were more apoptotic cells in treatment groups than in that control group by transmission electron microscopy (TEM) and TUNEL assay. It is concluded that rhTNF-alpha is able to inhibit the proliferation of HL-60 cells and to induce apoptosis of HL-60 cells in vitro and in vivo.
Animals ; Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Cell Proliferation ; drug effects ; Dose-Response Relationship, Drug ; HL-60 Cells ; Humans ; Leukemia, Promyelocytic, Acute ; drug therapy ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Neoplasm Transplantation ; Recombinant Proteins ; pharmacology ; Tumor Necrosis Factor-alpha ; pharmacology

Abstract: Objective　To analyze the association between drug resistance and the risk of latent tuberculosis infection and disease among household contacts of patients with pulmonary tuberculosis, and to explore whether the compensatory mutation of drug-resistant Mycobacterium tuberculosis will enhance its pathogenicity or transmission ability. Methods　The English and Chinese databases, including PubMed, web of science, EMBASE, Cochrane library database, CNKI and Wanfang database, were searched by computer from the time of establishment of the database to January 2022. Cohort studies on the risk of infection and disease among household contacts of patients with drug-resistant and sensitive pulmonary tuberculosis were searched and screened according to the inclusion and exclusion criteria. The data were extracted and evaluated by NOS scale, using stata16.0 software meta-analysis to calculate the combined effect of tuberculosis infection and disease risk of family contacts, and carry out heterogeneity test, subgroup analysis and sensitivity analysis. Results　A total of 7 cohort studies involving 9653 TB index cases and 29, 734 house contacts were included. The results of meta-analysis showed that compared with drug-sensitive pulmonary tuberculosis patients, the risk of tuberculosis infection in house contacts of drug-resistant pulmonary tuberculosis patients was increased (OR=1.56, 95%CI=1.25-1.96, P<0.001), but there was no difference in the risk of incidence (RR=1.06, 95%CI=0.80-1.41, P=0.67>0.05). Subgroup analysis showed that the risk of latent tuberculosis infection in house contacts was affected by the study area, and the size of family contacts had an impact on the risk of TB . Sensitivity analysis showed that the results of meta-analysis were robust. Conclusion　Compared with drug sensitive TB patients, household contacts with drug-resistant TB patients had a higher risk of tuberculosis, but there was no difference in the risk of TB among the two groups.

BACKGROUNDEndovascular aneurysm repair (EVAR) is one of the first-line therapies of abdominal aortic aneurysms. Postoperative endoleak is the most common complication of EVAR. Computed tomography angiography (CTA), which is routine for follow-up, has side effects (e.g., radiation) and also has a certain percentage of missed diagnosis. Preliminary studies on contrast-enhanced ultrasound (CEUS) have shown that the sensitivity of CEUS for detecting endoleak is no lower than that of CTA. To investigate the advantages of CEUS, we conducted CEUS examinations of post-EVAR cases in which CTA failed to detect endoleak or could not verify the type of endoleak.

METHODSPost-EVAR patients, who were clinically considered to have endoleak and met the inclusion criteria were enrolled between March 2013 and November 2014. All of the patients underwent color Doppler flow imaging (CDFI) and a CEUS examination. Size, location, microbubble dispersion, and hemodynamic characteristics of leaks were recorded. Comparison between the diagnosis of CEUS and CDFI was conducted using Fisher's exact test and clinical outcomes of all patients were followed up.

RESULTSSixteen patients were enrolled, and 12 (75%) had endoleaks with verified types by CEUS. Among 12 cases of endoleaks were positive by CEUS, 10 were CDFI-positive, and the four CEUS-negative cases were all negative by CDFI. The diagnostic values of CEUS and CDFI were statistically different (P = 0.008). Six patients with high-pressure endoleaks received endovascular re-intervention guided by CEUS results. One patient with type III endoleak had open surgery when endovascular repair failed.

CONCLUSIONSCEUS is a new, safe, and effective means for detection of endoleaks post-EVAR. This technique can be used as a supplement for routine CTA follow-up to provide more detailed information on endoleak and its category.

Aged ; Aged, 80 and over ; Aortic Aneurysm, Abdominal ; diagnostic imaging ; surgery ; Contrast Media ; Female ; Humans ; Male ; Tomography, X-Ray Computed ; Ultrasonography, Doppler, Color

OBJECTIVETo observe the effects of early goal-directed fluid therapy with hydroxyethyl starch 130/0.4 on intra-abdominal hypertension (IAH), multiple organ dysfunction and fluid balance in severe acute pancreatitis (SAP) patients.

METHODSAccording to the criteria of selection and exclusion, 120 SAP patients within 72 hours after the symptom occurred from 4 study sites were recruited. They were given standard medication according to "the guideline of diagnosis and treatment of SAP in China" in SICU or PICU. The patients were randomly divided into two groups with crystalloid (control group) and colloid plus crystalloid resuscitation (research group). The objective of fluid therapy was to keep steady hemodynamics for 8 days. IAP was measured three times daily by means of urinary bladder transduction. Function of liver, renal and lung were detected daily. APACHE II score and fluid balance were calculated daily.

RESULTSTotal 120 cases were recruited into research group (n = 59) and control group (n = 61). The demography and baseline data were comparable. IAP was lower in research group than that in control group at day 4 and day 5 (P < 0.05). There was no significant difference in APACHE II scores between two groups pre- and after admission. The decline of daily IAP to baseline (DeltaIAP) in research group was significantly higher than in research group from day 2 to day 8(P < 0.05), whilst the decline of daily APACHE II score to baseline (DeltaAPACHE II score) in research group were significantly higher from day 4 to day 8 (P < 0.05). Negative fluid balance emerged much earlier in the research group (P = 0.036). Percentage of patients with negative fluid balance within 8 days was significantly higher in research group than that in control group (94.9% vs. 62.3%). The amount of positive fluid balance was significantly lower in research group (P = 0.039). IAP correlated significantly with APACHE II score (r(2) = 0.322, P = 0.000). PaO2/FiO2 was significantly higer in research group at day 4 and day 8.

CONCLUSIONSIt is very important to pay close attention to IAP in early fluid therapy of SAP patients. Early goal-directed fluid therapy with HES130/0.4 shortens the duration of positive fluid balance, decreases the amount of positive fluid balance, reduces APACHE II score, relieves IAH, and improves PaO2/FiO2.

Fluid Therapy ; Goals ; Humans ; Intra-Abdominal Hypertension ; Multiple Organ Failure ; Pancreatitis

OBJECTIVETo investigate whether the level of hepatitis B surface antigen (HBsAg) represents the status of inflammation and stages of fibrosis in livers of patients with chronic hepatitis B (CHB) during the immune clearance phase (IC).

METHODSLiver biopsy samples and sera were collected from 165 consecutive patients (136 males; 29 females) with CHB in IC who were treated in our hospital between March 2009 and June 2011. Routine biochemical tests were carried out to measure indicators of liver function. The relation between HBsAg level and liver pathological stages were determined by Spearman's rank correlation analysis. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic value of HBsAg level for liver pathological stages. Binary logistic regression was used to analyze potentially relevant indicators, and liver pathology-predicting models were built and analyzed by the ROC method.

RESULTSThe mean values of HBsAg (IU/mL) were significantly different at the different liver inflammation stages: G1, 27 716.07+/-32 870.69; G2, 34 478.75+/-40 899.55; G3, 19 408.09+/-24 881.07; G4, 14 286.31+/-28 610.14. Likewise, the mean values of HBsAg (IU/mL) were significantly different at the different liver fibrosis stages: S1, 41 337.23+/-43 236.39; S2, 27 264.32+/-32 517.29; S3, 111 541.77+/-11 538.93; S4, 11 447.37+/-22215.44. Spearman's rank correlation analysis indicated a significant correlation between HBsAg level and liver inflammation stage (rs = -0.244) and fibrosis stage (rs = -0.365). ROC curve analysis of the diagnostic value of HBsAg for inflammation stages S more than or equal to 4 revealed that the area under the curve (AUC) was 0.70. The specificity of diagnosing S more than or equal to 4 was > 95.16% when HBsAg was less than or equal to 32995 IU/mL. Binary logistic regression analysis identified age, serum albumin, cholinesterase, and HBsAg as independent predictors of liver fibrosis.

CONCLUSIONHBsAg level is negatively correlated with liver inflammation and fibrosis stages for patients with CHB in the IC phase, and might represent a useful noninvasive marker of the degree of hepatic fibrosis.

Adult ; Female ; Hepatitis B Surface Antigens ; blood ; Hepatitis B, Chronic ; blood ; immunology ; pathology ; Humans ; Inflammation ; Liver ; immunology ; pathology ; Liver Cirrhosis ; immunology ; pathology ; Male ; Middle Aged ; Young Adult

OBJECTIVETo observe the changes in hepatitis B virus (HBV)-specific and non-specific cellular immunity that accompany viral load decline during adefovir dipivoxil (ADV) treatment in patients with hepatitis B e antigen (HBeAg)-positive chronic hepatitis B, and to explore the antiviral immunity mechanism underlying the treatment response.

METHODSSerial analysis of cellular immunological parameters was performed in HBeAg-positive patients (n = 20) throughout the 48-week course of ADV therapy (10 mg/d). HBV-specific T cell reactivity to HBV core antigen (HBcAg) was assessed by enzyme-linked immunosorbent spot assay and cell proliferation assay at pre-treatment (baseline) and post-treatment weeks 4, 12, 24, 36, and 48. Percentage of regulatory T cells (Tregs), as well as activated peripheral natural killer (NK) cells (expressing the NKG2D receptor), was measured by flow cytometry. Comparisons of means were performed by the two-tailed t-test or the Mann-Whitney rank sum test.

RESULTSAfter 48 weeks of ADV therapy, HBeAg loss was observed in six of the 20 (30%) patients and 14 patients remained HBeAg-positive. In the patients with HBeAg loss, the viral load reduction was accompanied by a significantly enhanced response rate of HBV-specific interferon (IFN)-gamma-producing CD4+ T cells [measured as (spot forming cells/peripheral blood mononuclear cells); baseline: (661.25+/-281.97) *10(-6) vs. week 48: (280.75+/-104.33) *10(-6), P = 0.045]. In contrast, patients without HBeAg loss showed no significant differences in T cell response rates. The patient groups with and without HBeAg loss showed similar proportions of peripheral blood Tregs during the treatment course, which included a trend of gradual decrease from baseline to week 4 with steady levels thereafter. In addition, both groups showed a similar increase in NKG2D expression that began at week 12 and peaked at week 48.

CONCLUSIONHBV-specific T cell reactivity temporally increases in some ADV-treated chronic hepatitis B patients, and this trend is strongly associated with HBeAg loss. Furthermore, recovery of HBV-specific T cell reactivity promotes viral clearance and HBeAg seroconversion.

Adult ; Antiviral Agents ; therapeutic use ; DNA, Viral ; blood ; Female ; Hepatitis B e Antigens ; blood ; Hepatitis B, Chronic ; blood ; drug therapy ; immunology ; Humans ; Killer Cells, Natural ; immunology ; Male ; NK Cell Lectin-Like Receptor Subfamily K ; metabolism ; T-Lymphocytes, Regulatory ; immunology ; Viral Load ; Young Adult

OBJECTIVETo study the course and distribution of buccal and marginal mandibular branches of facial nerve, and its relevance to the treatment of facial paralysis and the protection of facial nerve during surgery.

METHODS12 cadaver heads were dissected (24 specimens). The course of the buccal and marginal mandibular branch and the interconnections between them were observed. The relationship of buccal branch to parotid duct, marginal mandibular branch to the inferior border of mandible were studied. With modified Sihler's staining technique, the distribution of facial nerve branches in innervated mimetic muscles was displayed. These anatomic relationships mentioned above were further confirmed during the operation of 40 patients with facial paralysis.

RESULTSParotid duct had a constant surface landmark. Buccal branch mainly consisted of 2-3 ramifications in 87.5% of the specimens, while marginal mandibular branch was double or single in 95.9% of the specimens. The buccal branch coursed within the distance between 10.7 mm above and 9.3 mm below the parotid duct, and innervated mimetic muscles of midface. The marginal mandibular branch coursed within the distance between 13.4 mm above and 4.8 mm below the lower border of mandible, crossed superiorly the facial artery and innervated mimetic muscles of lower lip.

CONCLUSIONSThere is a close relationship of buccal branch to parotid duct and marginal mandibular branch to facial artery and lower border of mandible. With modified Sihler's staining technique, the original 3-dimensional picture of the intramuscular nerve distribution in human mimetic muscles.

Adult ; Facial Nerve ; anatomy & histology ; Facial Paralysis ; surgery ; Female ; Humans ; In Vitro Techniques ; Male ; Mandible ; anatomy & histology ; innervation

OBJECTIVETo study the clinical effect and mechanism of hemoperfusion (HP) in the treatment of children with severe abdominal Henoch-Schönlein purpura (HSP).

METHODSA total of 24 children with severe abdominal HSP were divided into two groups: conventional treatment and HP (n=12 each). Ten healthy children who underwent physical examination were enrolled as the control group. Before and after treatment, chemiluminescence was used to measure the serum levels of interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α); thiobarbituric acid colorimetry was used to measure the plasma level of malondialdehyde (MDA); the hydroxylamine method was used to measure the plasma level of superoxide dismutase (SOD); chemical colorimetry was used to measure the plasma level of total anti-oxidant capability (T-AOC).

RESULTSCompared with the control group, the conventional treatment and HP groups had significantly higher IL-6, TNF-α, and MDA levels and significantly lower SOD and T-AOC levels before treatment (P<0.05), but there were no significant differences between the conventional treatment and HP groups (P>0.05). After treatment, the conventional treatment and HP groups had significant reductions in IL-6, TNF-α, and MDA levels and significant increases in SOD and T-AOC levels (P<0.05). The HP group had significantly greater changes than the conventional treatment group; however, there were still significant differences in these indices between the HP and control groups (P<0.05). Compared with the HP group, the conventional treatment group had a significantly lower percentage of children with disappearance of digestive tract symptoms at 4 days after treatment and significantly longer time to disappearance of rash and digestive tract symptoms (P<0.05). Compared with the conventional treatment group, the HP group had a significantly lower amount of glucocorticoid used during treatment and a significantly lower percentage of children who experienced hematuria and/or proteinuria within 6 months of the disease course (P<0.05). There were no significant differences between the two groups in length of hospital stay and recurrence rates of rash and abdominal pain within 6 months of the disease course.

CONCLUSIONSHP can reduce the amount of glucocorticoid used during treatment and the incidence rate of kidney injury in children with severe abdominal HSP, possibly by eliminating IL-6, TNF-α, and MDA.

Adolescent ; Child ; Child, Preschool ; Female ; Hemoperfusion ; Humans ; Interleukin-6 ; blood ; Male ; Malondialdehyde ; blood ; Purpura, Schoenlein-Henoch ; metabolism ; therapy ; Superoxide Dismutase ; blood ; Tumor Necrosis Factor-alpha ; blood