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.

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.

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.

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 .

ObjectiveAn input system was designed to solve the current problems of slow creation of electronic health record caused by the difficulty of resident information input.MethodsThe system,based on the Android platform,was designed to collect and save information by using PDA devices,and to send the information to the remote receiver over the wireless network with the hybrid encryption of DES and RSA.The receiver saved the information into the relational database after decryption.ResultsThe system saved acquisition time greatly compared to the traditional method.The transmission speed,security and reception rate of the system could well satisfy the requirements of information collection.ConclusionThe system provides a better way to solving the problems of heavy workload,low efficiency and high error rate in information collection,and will play an important role in practical life.

Objective To establish a HPLC method for the content determination of Chlorogenic acid and Hyperoside in the leaves of acanthopanax senticosus from different areas.Methods The samples were separated on Hedera? ODS-2 C18 column,using acetonitrile-0.4% phosphoric acid(17∶83) as mobile phase,the detection wavelength was 360 nm.Result Chlorogenic acid and Hyperoside showed good linear relationship over the ranges of 10.2～306 ?g/mL(r =0.999 5) and 10.4～312 ?g/mL(r =0.999 8),respectively.The average recoveries were 97.14% and 98.21% with RSD at 1.65% and 1.09%,respectively.The contents of Chlorogenic acid and Hyperoside were different obviously in samples from different areas.Conclusion This method is simple,rapid and sensitive,and it can be used for the further development and the quality control of the leaves of acanthopanax senticosus.

OBJECTIVE To investigate the clinical manifestation,diagnosis and treatment of Castleman disease(CD)in the neck. METHODS The data of 2 patients with pathological proved CD in the neck,who were seen in our hospital,were reviewed retrospectively in order to analyze their clinical manifestations,clinical and histological types, imaging characteristics and treatment. RESULTS The age of onset were 24 and 29 years respectively. Both of them only presented as a solitary,painless neck mass and met the criteria of localized CD, and also had histological evidence of the hyaline vascular variant. Complete surgical resection was the first treatment.Both of them were alive without evidence of recurrence for one year and half a year respectively. CONCLUSION CD in the neck often presents as localized lesion,which often presents as a progressive, painless, slowly growing lymph node enlargement that is generally asymptomatic. The locations most commonly are the cervical lymph nodes. CD in the neck is almost always the hyaline-vascular variant and complete surgical excision of the tumor is the best treatment.