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.

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.

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

Objective: To observe the therapeutic effects of warm-needling technique on peripheral facial paralysis. Methods: Warm-needling technique and electroacupuncture were employed to treat 30 cases of facial paralysis, respectively. The same acupoints, Cuanzhu(BL 2)towards Yuyao(Ex-HN 4), Yingxiang(LI 20) towards Xiaguan(ST 7), Taiyang(Ex-HN 5)towards Xuanlu(GB 5), Dicang(ST 4) towards Jiache(ST 6), and Chengjiang(CV 24) towards Daying(ST 5), were used. Results: After 33 treatments, the warm-needling technique has an effective rate of 83.3%, while the electroacupuncture 67.7%. Conclusion: The therapeutic effect of warm-needling technique was better than that of electroacupuncture method.

Objective It has been shown that partial liquid ventilation (PLV) with perfluorocarbon (PFC) can reduce intrapulmonary aggregation of neutrophils (PMNs) and macrophages and their cytokine release during acute lung injury (ALI) . The purpose of this study was to investigate the effect of PFC on activation of nuclear factor-kappa B (NF-?B) in neutrophils induced by lipopolysacchride (LPS) .Methods PMNs were isolated from peripheral blood obtained from 36 healthy volunteers and incubated in RPM 1640 cell culture medium yielding a concentration of 1?108/ hole. The PMNs were randomly divided into two groups : (Ⅰ) LPS group in which PMNs were incubated with LPS 10?g?ml-1(n = 18) and (Ⅱ) PFC group in which 5 min after stimulation of PMNs with the same concentration of LPS (10?g?ml-1 ) , PFC was added to the cell suspension with the final concentration of PFC / cell culture medium (vol / vol) of 0.3 (n=18 ). After incubation with LPS for 3 h (T1), 8h (T2) and 24 h (T3), the cell suspensions were centrifuged. The supernatants were analyzed for TNF-? concentration and gray value of activated NF-?B was measured in the nuclear of neutrophils. Results The concentration of TNF-a and gray value of NF-?B in PFC group were significantly lower than those in LPS group at all time points ( P

OBJECTIVE:To establish a HPLC method for determining cefixime in human plasma.METHODS:Analytical column was Discovery C 18 (4.6mm?250mm,5?m),the mobile phase consisted of methanol-acetate buffer-triethylaming(28∶72∶0.5V/V),the flow rate was1.0ml/min.The detection was performed at UV286nm.Plasma concentrations of cefixime and internal standard(Cephradine)were determined by HPLC.RESULTS:The calibration curve was linear in the concentrations ranging from0.1to5.0?g/ml(r=0.9995).The detection limit was0.1?g/ml.The recovery was(96.63?3.17)%.The within-day RSD was less than6.10%and between-day RSD was less than6.69%.CONCLUSION:The method is simple,sensitive,accurate and suitable for determination of cefixime in human plasma and pharmacokinetic study.

Optical coherence tomography (OCT) has played a revolutionary role in the development of ophthalmology.Since the 1990s,it has been constantly improved in terms of speed,resolution and sensitivity.The technique has also seen a variety of extensions aiming to assess ftmctional aspects of the tissue.Doppler combined with OCT technology (DOCT) can provide 3D vascular images,also referred to as the OCT angiography.DOCT can achieve visualization,quantitative blood flow,scanning of layer retinal blood vessels,and the scanning speed is fast.It has depth resolution,clear image.As a new noninvasive optical imaging technique,DOCT can realize retinal vascular network images and provide meaningful image data.It is a major breakthrough on the eye detection methods and helpful in diagnosis,monitoring for the eye disease in the future.This article reviews the application progress of DOCT in eye diseases.