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

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.

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.

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 explore the ultrasonographic, clinical and histopathological characteristics features of primary uterus lymphoma. Methods The clinical, sonographic and histopathological characteristics of nine patients who were pathologically comfirmed as primary uterus lymphoma were analyzed. Results Among the nine cases of primary uterus lymphoma, three lesions were found in the uterine bodys and 6 were found in the cervixes. Two patients with uterine body lymphoma had painless pelvic masses and six patients with cervix lymphoma had contact bleeding, including irregular vaginal bleeding in four patients. In sonograms, six lesions showed remarkable hypoechogenicity with homogeneous internal echogenicity;the margins of most lesions were circumcribed;all lesions had posterior enhancement. In color Doppler lfow imaging, abundant vascularities were detected in eight lesions. In the cases of uterine body lymphoma, all of the uterine bodys showed diffuse symmetrical enlargement without disruption of the endometria, while in ifve cases of cervix lymphoma, the tumors showed the shape of lobule. The pathological examination showed that all tumors were diffuse B-cell type non-Hodgkin lymphoma. Conclusions Primary uterus lymphoma has some clinical and ultrasonic features, including contact bleeding or irrgular vaginal bleeding, diffuse symmetrical enlargement of uterine body, complete endometria, remarkable hypoechogenicity, homogeneous echogenicity and posterior enhancement. Final diagnosis depends on the histopathology.

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.