Fructose-1,6-bisphosphatase(FBPase) deficiency is a rare inherited metabolic disease,which is an autosomal recessive metabolic disorder.Affected patients usually present with metabolic crisis including severe hypoglycemia and metabolic acidosis.Each attack occurred with a similar sequence.The triggering factors are removed and then clinical status is improved dramatically.As patients are usually symptomless in the plateau stage,it is often misdiagnosed.Metabolite assay in blood and urine is very useful for the diagnosis of FBPase deficiency.FBPase is a key enzyme in gluconeogenesis.Deficiency of FBPase impairs the formation of glucose from all precursors.FBP1 gene mutation contributes to the disease.More than 30 mutation types have been reported.There is no specific treatment.Early diagnosis and appropriate life-style can prevent repetitive metabolic derangements,improving life quality of these children and ensuring successful pregnancy.

Objective To investigate the role of tumor necrosis factor-α (TNF-α) in epithelial-mesenchymal transition (EMT) of hepatocellular carcinoma (HCC) cells and the related mechanism. Methods HCC cell lines Hep3B and SMMC-7721 were treated with TNF-α for 24 h; then the cell morphological changes were observed by microscope and the expressions of the epithelial markers (E- cadherin and β-catenin), mesenchymal markers (Vimentin and N-cadherin), and EMT associated transcriptional factor Twist were examined by RT-PCR and Western blotting analysis. The invasion and metastasis ability was evaluated by Transwell and wound healing assay. Luciferase reporter assay and immunofluorescence were used to determine NF-κB transcriptional activity; Western blotting analysis was used to examine the expression levels of IκBα and p-IκBα protien. Cells was also incubated with TNF-α and NF-κB inhibitor (BAY11-7082) together, and then the phenotypeof EMT was detected by microscope, RT-PCR and Western blotting analysis. Results Hep3B and SMMC-7721 cells had EMT phenotype after treated with TNF-α. Wound healing assay showed that the wound healing rate of cells exposed to TNF-α was significantly increased compared with the non-treated group (P<0. 05), and Transwell assay showed that more cells penetrating the membrane after treatment with TNF-α (P < 0. 05). TNF-α effectively promoted IκBα phosphorylation and the subsequent NF-κB nuclear translocation We also found that TNF-α-mediated EMT could be converted by NF-κB inhibitor (BAY11-7082) (P<0. 05). Conclusion TNF-α induces EMT of HCC cells through NF-κB-dependent pathways, and subsequently promotes the invasion and metastasis of HCC.

Animals ; Calpain ; Humans ; Nervous System Diseases ; chemically induced ; Organophosphate Poisoning

BACKGROUNDPharmacological therapy has been considered as the first-line treatment for patients with uncomplicated benign prostatic hyperplasia (BPH). The aim of this study was to evaluate the efficacy and safety of tamsulosin compared with a placebo for treating BPH.

METHODSThe randomized placebo-controlled trials (RCT) of tamsulosin for the treatment of BPH from all over the world were searched. PubMed, Ovid, ScienceDirect, EBSCO, CBM, and CNKI were searched, as well as a manual search of four Chinese journals: Chinese Journal of Andrology, National Journal of Andrology, Chinese Journal of Urology, and Journal of Clinical Urology was also performed. Two reviewers independently screened the studies for eligibility, evaluated the quality and extracted the data from the eligible studies, with confirmation by cross-checking. Divergences of opinions were settled by discussion. Meta-analysis was processed by Rev Man 5.0 software, fail-safe number was performed by SAS8.0 software.

RESULTSSeven RCTs involving 2455 men met the inclusion criteria. The basic characteristics of patients were comparable in all the studies. Comparing three common criteria: international prostate symptom score (IPSS)/Boyarsky symptom score, maximum flow rate (MFR), quality of life (QOL), tamsulosin was better than placebo at improving IPSS and MFR, with no significant difference in the QOL. Adverse events of tamsulosin also showed no significant difference from the placebo group (Z=1.62, P=0.10, OR=1.22, 95% CI 0.96-1.54).

CONCLUSIONSTamsulosin is better than placebo at improving IPSS and MFR. Adverse events of tamsuloisn show no significant difference compared with placebo. More high quality trials with larger samples and longer follow-up are proposed.

Antineoplastic Agents ; adverse effects ; therapeutic use ; Humans ; Male ; Prostatic Hyperplasia ; drug therapy ; Randomized Controlled Trials as Topic ; Sulfonamides ; adverse effects ; therapeutic use

Objective To investigate the prevalence,missed diagnosis rate and causes of acute kidney injury (AKI) in hospitalized children,and its impact on hospitalization cost,length of stay and outcome.Methods The data of children admitted in Children's Hospital Affiliated to Capital Institute of Pediatrics from December 1st to 31st 2014 were collected,and those whose serum creatinine (Scr) were measured at least two times were selected.Patients were diagnosed as AKI according to the diagnostic criteria of 2012 Kidney Disease:Improving Global Outcomes,then divided into AKI group and non-AKI group,the former of which was further divided into AKI1 group (Scr peak value in normal range) and AKI2 group (Scr peak value above normal range).The causes and impact of AKI on hospitalization cost,length of stay and outcome in different groups were compared and analyzed.Results (1) Among 921 patients with at least two Scr results,170 patients met with the diagnostic criteria of AKI,including 100 males and 70 females.There were 112(65.9％) in AKI stage 1,43(25.3％) in stage 2,and 15(8.8％) in stage 3.The overall prevalence of AKI was 18.5％.With only 7cases getting diagnosed,the diagnostic rate was 4.1％,while 95.9％ of patients missed diagnosis.(2)Among AKI patients,67 cases had pre-renal causes,103 cases had intra-renal causes and mixed factors.100(58.8％) cases got complete recovery,34(20.0％) cases recovered partially and 36(21.2％)cases did not improve,including 4 cases of death.(3) The prevalence of AKI among those below 1-year old was higher than children elder than 1-year (23.0％ vs 15.5％,P=0.004).The prevalence of AKI in surgical ward was higher than medical ward (30.7％ vs 15.8％,P ＜ 0.001).(4) Compared with those in non-AKI group,there was lower age [1.1(0.2,3.5) year vs 2.0(0.3,4.9) year] and higher hospitalization time[12.5(8.0,20.0) d vs 8.0(6.0,11.0) d],hospitalization costs [25 279.2(13 822.8,48 856.7) yuan vs 12 616.9(8680.1,19 345.1) yuan] and mortality (2.4％ vs 0.3％) in AKI group (all P ＜ 0.05).(5) There were 126 cases in AKL group and 44 cases in AKI2 group.The costs of hospitalization,outcome and mortality showed no difference between two groups (all P ＞ 0.05).The hospitalization time in AKI2 group was shorter than that in AKL group (P=0.038).Conclusions Among hospitalized children the missed diagnosis rate of AKI is high.Pre-renal factor is the main cause of AKI.Children younger than 1-year old are more susceptible to AKI.AKI children have lower age and higher hospitalization time,hospitalization costs and mortality than non-AKI children.The effect of Scr fluctuation within normal levels needs to be further studied.

Objective To investigate the expression of Erbin in renal interstitial fibrosis (RIF) and the effect of over-expression of Erbin on transforming growth factor β1 (TGF-(β1)-induced epithelial-mesenchymal transition (EMT) in NRK52E cells. Methods In vivo, the model of renal fibrosis was induced by 5/6 subtotal nephrectomy in rat. Scr and BUN was detected and Masson staining was used to evaluate the level of renal tissue fibrosis. The location and expression of Erbin in renal tissue were detected by immunohistochemistry and Western blotting. In vitro, after NRK52E cells were treated by TGF-β1 (10 μg/L) for 72 h, immunofluorescence and Western blotting were used to obverse the expression and distribution of E-cadherin and α-SMA. The expression of Erbin mRNA and protein were detected by RT-PCR and Western blotting respectively. NRK52E cells were transiently transfected with Prk5-myc-Erbin plasmid via lipofectamine 2000, then the expressions of Erbin, E-cadherin and α-SMA were detected by Western blotting. Results (l)Compared to sham group with Scr (33.96±7.28) μmol/L and BUN (8.11±2.55) mmol/L, rats in 5/6 nephrectomy model with Scr (140.52±61.11) μmol/L and BUN (34.23±7.66) mmol/L revealed renal dysfunction. Masson staining indicated kidney interstitial fibrosis, and the expression of Erbin was significantly increased in renal tissue(2.9 folds), especially in tubular epithelia. (2)In vitro, the expressions of Erbin and α-SMA were markedly increased (2.3 folds and 2.1 folds, P<0.05, respectively) and the expression of E-cadherin was dramatically decreased in NRK52E cells stimulated by TGF-β1, which were consistent with immunofluorescence results. TGF-β1-induced E-cadherin suppression and a-SMA induction could be efficiently blocked by over-expression of Erbin (all P <0.05). Conclusions Erbin is up-regulated in renal interstitial fibrosis, and over-expression of Erbin can partly inhibit renal EMT induced by TGF-β1, which indicates Erbin playing an protective role in renal fibrosis.

OBJECTIVE: To observe waveform difference among cervical vestibular evoked myogenic potentials (cVEMP) elicited with different types of air conducted sound in normal young Chinese subjects. METHOD: Twenty adult volunteers (40 ears) were recruited as research subjects including 10 males and 10 females aged between 19 and 30.500 Hz Tone Burst, 1000 Hz Tone Burst and Click were employed as stimulus for conventional air conducted sound-cVEMP (ACS-cVEMP) examinations in bilateral ears of each subject. The response rate, threshold, P1 latency, N1 latency, P1-N1 latency interval, amplitude and inter-aural asymmetry were recorded and compared among groups. RESULT: The response rate was 97.5% in 500Hz Tone Burst (39/40), 87.5% in 1 000Hz Tone Burst (35/40)and 67.5% in Click (27/40), There were no statistically significant difference between 500Hz Tone Burst and 1000Hz Tone Burst (P > 0.05) but there were statistically significant difference between click and the other groups (P < 0.05). We collected the waveform parameters (the threshold, P1 latency, N1 latency, P1-N1 latency interval, amplitude) which had statistically significant difference between 500 Hz Tone Burst and the other groups (P < 0.05). The inter-aural asymmetrys had no statistically significant differents among groups. CONCLUSION The response rate and parameter could be affected by different types of air conducted sound in normal young Chinese subjects. 500 Hz Tone Burst was the best stimulus of type what we have known.
Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Male ; Neck ; Vestibular Evoked Myogenic Potentials ; Vestibule, Labyrinth ; physiology ; Young Adult

OBJECTIVETo study the changes in the levels of autophagy-related proteins, Atg1, Atg5, and Beclin1, in organophosphate-induced delayed neuropathy (OPIDN) caused by tri-ortho-cresyl phosphate (TOCP), and to investigate the molecular pathogenic mechanism of OPIDN.

METHODSThirty adult Roman hens were randomly and equally divided into control group and 1, 5, 10, and 21 d intoxication groups. Each hen in the intoxication group was administered TOCP by gavage at a single dose of 750 mg/kg, while each hen in the control group was administered the same volume of corn oil. The hens were killed at the corresponding time points, and their tibial nerves and spinal cords were collected. The levels of Atg1, Atg5, and Beclin1 in the tibial nerves and spinal cords were measured by immunoblotting.

RESULTSCompared with those in the control group, the levels of Atg1 in tibial nerves decreased by 29.8%, 64.4%, 43.5%, and 19.8% at 1, 5, 10, and 21 d, respectively, after intoxication ((P < 0.05); the levels of Atg5 in tibial nerves decreased by 36.8%, 49.6%, 51.2%, and 31.5% at 1, 5, 10, and 21 d, respectively, after intoxication (P < 0.05); the levels of Beclin1 in tibial nerves decreased by 68.5%, 66.3%, and 32.2% at 1, 5, and 10 d, respectively, after intoxication (P < 0.05). Compared with those in the control group, the levels of Atg1 in spinal cords decreased by 23.5%, 48.7%, and 20% at 1, 5, and 10 d, respectively, after intoxication (P < 0.05); the levels of Atg5 in spinal cords decreased by 32.7%, 51.5%, 47.3%, and 39.6% at 1, 5, 10, and 21 d, respectively, after intoxication (P < 0.05); the levels of Beclin1 in spinal cords decreased by 28.9%, 50.2%, 43.2%, and 28.3% at 1, 5, 10, and 21 d, respectively, after intoxication (P < 0.05).

CONCLUSIONThe intoxication of TOCP is associated with the significant changes in the levels of autophagy-related proteins in the nervous tissues of hens, which might be involved in the pathogenesis of OPIDN.

Animals ; Apoptosis Regulatory Proteins ; metabolism ; Autophagy ; drug effects ; Chickens ; Female ; Intracellular Signaling Peptides and Proteins ; metabolism ; Microtubule-Associated Proteins ; metabolism ; Nervous System Diseases ; chemically induced ; metabolism ; Neurofilament Proteins ; metabolism ; Spinal Cord ; metabolism ; Tibial Nerve ; metabolism ; Tritolyl Phosphates ; toxicity

OBJECTIVETo investigate the effect of 2,5-hexanedione (HD) on degradation of low-molecular-weight neurofilaments (NF-L) in nervous tissue of rats, and to explore the molecular mechanism of n-hexane neuropathy.

METHODSFifty male Wistar rats were randomly divided into one-week poisoning group (n = 10), two-week poisoning group (n = 10), three-week poisoning group (n = 10), four-week poisoning group (n = 10), and control group (n = 10). In the four poisoning groups, a rat model of n-hexane neuropathy was established by intraperitoneal injection of HD (400 mg/kg/d). The change in the sciatic nerve ultrastructure of each rat was observed under an electron microscope. The progression of HD-induced peripheral neuropathy was evaluated using a gait scoring system. The degradation rates of NF-L in the sciatic nerve and spinal cord of each rat were measured by Western Blotting.

RESULTSThe rats showed decrease in muscle strength and abnormal gait after two weeks of HD poisoning and mild or moderate paralysis after four weeks of HD poisoning. The sciatic nerve showed degenerative change, according to electron microscope observation. Compared with the control group, the two-week poisoning group, three-week poisoning group, and four-week poisoning group had the NF-L degradation rates decreased by 25.8%, 70.4%, and 69.7%, respectively, in the supernatant fraction of sciatic nerve, and by 14.7%, 64.6%, and 67.3%, respectively, in the sediment fraction of sciatic nerve, all showing a significant difference (P < 0.01). Compared with the control group, the one-week poisoning group had the NF-L degradation rate decreased by 33.87% in the supernatant fraction of spinal cord, the four-week poisoning group had the NF-L degradation rate increased by 16.2% in the supernatant fraction of spinal cord, and the one-week poisoning group and two-week poisoning group had the NF-L degradation rates decreased by 46.3% and 13.0% in the sediment fraction of spinal cord, all showing a significant difference (P < 0.01).

CONCLUSIONHD poisoning significantly inhibits NF-L degradation in the sciatic nerve, which may be associated with NF degeneration and accumulation in the axons of patients with n-hexane neuropathy.

Animals ; Hexanes ; poisoning ; Hexanones ; pharmacology ; Male ; Nerve Tissue ; drug effects ; metabolism ; physiopathology ; Neurofilament Proteins ; drug effects ; metabolism ; Rats ; Rats, Wistar ; Sciatic Nerve ; drug effects ; metabolism ; physiopathology

Apoptosis ; drug effects ; Carcinoma, Hepatocellular ; pathology ; Glucosamine ; pharmacology ; Humans ; Liver Neoplasms ; pathology ; Tumor Cells, Cultured