Multiple carboxylase deficiency (MCD) includes autosomal recessive holocarboxylase synthetase (HLCS) deficiency and biotinidase (BTD) deficiency, which are caused by and gene mutations respectively. Neonatal screening for HLCS deficiency is based on 3-hydroxyisovaleryl carnitine in dry blood filter paper, and BTD deficiency is based on BTD activity determination. HLCS deficiency and BTD deficiency are characterized by neurocutaneous syndrome and organic aciduria, however, they are different in onset age, neurological symptoms and metabolic decompensation, which needed to be differentiated from acquired biotin deficiency or other genetic metabolic diseases. The diagnosis of the disease requires a combination of biochemical characteristics of hematuria, enzyme activity determination and genetic test. Routine biotin doses are effective for most MCD patients. This consensus is intended to benefit early screening and diagnosis of MCD.
Biotin/therapeutic use* ; Biotinidase Deficiency/therapy* ; Carbon-Nitrogen Ligases/metabolism* ; Consensus ; Holocarboxylase Synthetase Deficiency/genetics* ; Humans ; Infant, Newborn ; Multiple Carboxylase Deficiency/drug therapy* ; Neonatal Screening

ObjectiveTo explore the possible mechanism that Gadd45a and Egr-1together participate in the DNA damage repair,by analyzing the influence of hepatic ischemia-reperfusion injury (IRI) on the rnRNA and protein expression of hepatic cell cycle-related genes.Method Methods Forty-two SD rats were divided into normal control group,ischemia 30 min group and reperfusion 30 min,1h,2 h,3 h and 24 h groups.The hepatic specimens of rats at the corresponding time points after success of modeling were obtained. Chip experiment was used to screen out the key genes Gadd45a,Egr-1and GAPDH for target genes.We used Northern blot and RT-PCR to confirm the chip's results. The expression of related proteins was detected by using immunofluorescence and immunohistochemistry.Results Northern blot detection results showed that the RT-PCR products and the target genes for testing were concordant.The expression spectral chip signal and RT-PCR detection revealed that the expression of target genes had a 4-fold increase at early reperfusion period (1h) (up-regulation of Egr-1,Gadd45a and HSP70-1a by 9.39,8.28 and10.8 respectively.At the later stage of reperfusion (24 h),the expression of Egr-1,Gadd45a and Hspala was reduced to the normal levels, and the chip screening results were consistent with the RT-PCR test results.Fluorescence immunohistochemistry demonstrated that in the reperfusion1h and 2 h groups,the expression of Egr-1in nuclei of liver cells was positive. Immunohistochemistry indicated that the Gadd45 expression in the nucleus and cytoplasm was gradually increased with increasing reperfusion time.ConclusionGadd45a and Egr-1are the key genes of the nuclear factor (NF)-kB regulatory pathways,and involved in the regulation of cell cycle arrest at G2/M phase and repair of damaged DNA in rat hepatic IRI.

Cardiopulmonary bypass(CPB) often result systemic inflammatory response syndrome.In addition to lipid lowing effects,statins appears to exhibit pleiotropic effects such as antiinflammatory properties,improvement of endothelial dysfunction and reduction of ischemia-reperfusion injury.In this review,the author summarized advances in these respects.

Objective: To inquire into the discrepancy in the behavior and therapeutic ways for the children at different age with dental diseases.Methods: 994 children at the age of 1～12 with dental diseases were divided into 3 groups on the base of their ages. Relevant therapeutic ways were taken according to their behavior. The influencing factors that made dental treatment finished smoothly were reached through analyzing the relationship among the children, the parents and the medical personals. Results: The manifestations of children's behavior had significant age differences when they received dental treatment. Non cooperative children constituted the majority of the infantile children, while the school age children were mostly cooperative. The ways chosen to treat children's dental diseases also had significant age differences. Compulsory means was the main way to treat infantile children and routine means to the pre school age and school age children. Inductive and threatening ways were always used for the non cooperative pre school age children. The non cooperative school age children were always received inductive means and seldom threatening and compulsory ones. The parents often accompanied with the infantile children, but did not with the pre school age and school age children. Conclusion: The age is a key factor to determine the clinical manifestations and the methods used to treat children's dental diseases.

Acute Disease ; Adolescent ; Adult ; Aniline Compounds ; poisoning ; Humans ; Male ; Middle Aged ; Occupational Diseases ; chemically induced ; diagnosis ; drug therapy ; Poisoning ; diagnosis ; drug therapy

Objective To provide reliable and scientific data for supervision assessment and control of regional ambient air quality in Beijing through the investigation of ambient air quality in Chaoyang District. Methods Three local regions of Chaoyang Park Dabeiyao and Dongzhimen were selected as the measurement areas the determinations of air quality of consecutive 5 days and 4 times a day8 00 12 00 16 00 20 00 were conducted 6 items were included PM10 CO NO2 SO2 and negative ion concentration. Results The daily averages of CO and SO2 were lower than level 2 standard limitation for 5 days’ measurement in 3 regions. 2 of 5 days the daily average of NO2 in Dongzhimen exceeded the standard limitation0.01 mg/m3. 2 of 5 days the daily average of PM10 in 3 regions exceeded the standard limitation  0.01- 0.04 mg/m3. Conclusion Preliminary analysis was carried out based on ambient air quality data in 3 local regions the air pollution often emerged on some days in Beijing. The supervision and control should be conducted according to the characters of regional environmental quality pollution and meteorology.

Objective:To explore influence of holistic nursing on serum levels of N terminal pro brain natriuretic peptide (NT‐proBNP) , high sensitive cardiac troponin T (hs‐cTnT ) and quality of life in patients with chronic heart failure (CHF) .Methods:A total of 108 CHF patients treated in our hospital from Jan 2015 to May 2016 were randomly and e‐qually divided into routine nursing group and holistic nursing group (received holistic nursing based on routine nursing group) .Serum levels of NT‐proBNP ,hs‐cTnT and score of Chinese questionnaire of quality of life in patients with cardio‐vascular disease (CQQC) were compared between two groups before and after nursing .Results:There were no significant difference in serum levels of NT‐proBNP and hs‐cTnT and CQQC score between two groups before nursing , P>0.05 all . Compared with before nursing ,after nursing ,there were significant reductions in serum levels of NT‐proBNP and hs‐cTnT , and significant rise in CQQC score in holistic nursing group , P<0.01 all .Compared with routine nursing group after nurs‐ing ,there were significant reductions in serum levels of NT‐proBNP [(2.65 ± 0.53)μg/L vs .(2.07 ± 0.52)μg/L] and hs‐cTnT [ (0.42 ± 0.12)μg/L vs .(0.31 ± 0.09)μg/L] ,and significant rise in CQQC score [ (52.87 ± 9.56) scores vs . (57.43 ± 10.20) scores] in holistic nursing group ,P<0.05 or <0.01. Conclusion:Holistic nursing contributes to reducing serum levels of NT‐proBNP and hs‐cTnT , it can improve cardiac function and quality of life in patients with chronic heart failure ,which is worth clinical application and extending .

Objective To analyze the clinical features of pure red cell aplasia (PRCA),and to improve the recognition of its pathogenesis and treatment.Methods Among 35 PRCA patients from 1990-01 to 2003-04 in our hospital,17 patients(group Ⅰ) had immunologic abnormality,and the other 18 patients (group Ⅱ)were normal at every immunologic index.Removed the primary affection,all patients were given the combine treatment with drugs:androgen,immunosuppressive agent or/ and glucocorticoid.Results Nine patients in group Ⅰ appeared T subgroup ratio inversion in peripheral blood,eleven patients had higher level than normal with TNF?,and six patients' IL-2 level was higher.The response was 70.6%.Some patients shifted to normal in immunologic index.The response was 86.7% in group Ⅱ.But 11 cases relapsed of the 25 cured and remission patients.They responded again to the initial therapy.Conclusion Dysimmunity is the most important pathogenesis in PRCA patients.Most patients respond to immunosuppression therapy.The relapse patients also respond to initial therapy.

Objective: To study the biological effects of the novel gene LAPTM4B high expressed in hepatocellular carcinoma on cell proliferation and tumorigenesis of NIH3T3 cells. Methods: Eukaryotic expression plasmid pcDNA3 TM4B was constructed and transfected into mouse NIH3T3 cell line using Lipofectamin 2000 mediating gene transfer technique. Monoclonal transfected cells with high expression of LAPTM4B gene were identified and selected by RT-PCR, Northern blot and Western blot method. Cell surface morphology was detected by scanning electronic microscopy (SEM). The cell attachment /spreading on various matrices was examined. The cell growth curves were measured by acid phosphatase method. Cell cycle was detected by flow cytometry (FCM). The expression level of Cyclin E protein was examined using Western blot. Results: The cell surface of the LAPTM4B transfected cells showed abundant tube/finger like microvilli, which were distinguished significantly from the MOCK cells. The cell attachment/spreading of transfected cells increased on fibronectin, matrigel and laminin. The growth rate of transfected cells was faster than that of the MOCK cells. FCM analysis indicated that the amount of the transfected cells in S phase was increased significantly. Cyclin E protein expression of transfected cells was much higher than that of the MOCK cell. The serum dependence of transfected cells was decreased. The fibrosarcoma was formed at a tumorigenic rate of 50% in NIH mice inoculated with LAPTM4B transfected cells.Conclusion: LAPTM4B gene promotes the cell proliferation by involving in the regulation of cell cycle control and causes tumorigenesis of NIH3T3 cells, indicating that it plays important roles in tumorigenesis.

OBJECTIVE:To study the bioequivalence between cefadroxil capsules and its reference capsules and pharmacokinetics in 22 male healthy volunteers METHODS:A dose of 1 000mg cefadroxil(test and reference products)was given according to a randomized cross-over design Plasma concentrations of cefadroxil and internal standard(amoxicillin) were determined by HPLC RESULTS:The concentration-time curves of both preparations fitted to a one-compartment model The main parameters of test and reference products were as follows:T1/2ke were (1 40?0 15)h and (1 44?0 23)h;Tmax were (2 3?0 5)h and (2 2?0 3)h;peak concentrations(Cmax) were (30 59?4 25)?g/ml and(30 57?4 24)?g/ml,AUC were(99 31?14 50)?g/(ml?h) and (99 22?15 11)?g/(ml?h)respectively CONCLUSION:Relative bioavailability was(100 42?7 62)% The two formulations were bioequivalent