Biotinidase deficiency is an autosomal recessive genetic disease with the decrease of biotinidase activity,which is caused by mutations of biotinidase gene.In recent years,with the development of genetic metabolic disease screening,biotinidase deficiency has been diagnosed constantly.Its incidence is about 1 ∶ 60 000 persons overseas and its clinical manifestations are complicated with high mortality and morbidity.In this paper,advances on pathogenesis,clinical manifestations,diagnosis and treatment of biotinidase deficiency will be reviewed.

Aim To explore the relationship of the single nucleotide polymorphisms of multidrug resistance gene 1 and brain derived neurotrophic factor(BDNF) gene to childhood drug resistance epilepsy.Methods Two single nucleotide polymorphisms,T-129C polymorphism in multidrug resistance gene 1 and C270T polymorphism in BDNF gene,were conducted with PCR-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of two single nucleotide polymorphisms in childhood drug resistance epilepsy were compared to those in drug respond epilepsy and controls.Results The distribution of TT genotype and T allele frequencies of multidrug resistance gene 1 in drug resistance epilepsy differed significantly from those in drug respond epilepsy and controls(P0.05).Conclusions The findings suggested that the T-129C polymorphism of multidrug resistance gene 1 maybe associated with childhood drug resistance epilepsy and played some role in the etiology of drug resistance epilepsy,but C270T polymorphism of BDNF gene was not confirmed to relate to childhood drug resistance epilepsy.

BACKGROUND:Nano-hydroxyapatite/col agen combined with mononuclear cel s can promote the growth of a variety of stem cel s to induce the formation of new bone and vascularization, final y inducing osteogenesis.
OBJECTIVE:To investigate the feasibility of bone marrow mononuclear cel s combined with the nano-hydroxyapatite/col agen for repair of mandibular defects in a rabbit.
METHODS:Twenty-seven New Zealand white rabbits were selected to prepare bilateral mandibular bone defect models, and then divided into three groups. In experiment group, bone marrow mononuclear cel s combined with the nano-hydroxyapatite/col agen were implanted into mandibular defects;in control group, nano-hydroxyapatite/col agen scaffold was implanted;and in blank control group, nothing was implanted. Tissue specimens were prepared at weeks 4, 8, 12 for gross observation, imaging analysis, hematoxylin-eosin staining and scanning electron microscope.
RESULTS AND CONCLUSION:The imaging examination and histological staining showed that the bone quality and healing degree in the experimental group was better than those in the other groups. Scanning electron microscope showed that better histocompatibility and no inflammation reaction in the experimental group. Dental CT data showed that the experimental group had better repair effect than the other groups (P<0.05). These findings indicate that bone marrow mononuclear cel s combined with the nano-hydroxyapatite/col agen have capacity of bone induction and bone formation, which can be used to repair mandibular defects.

A spectrophotometric method for the determination of trace amounts of mercury (Ⅱ ) was described based on the formation of a complicated ion-association complex of Hg (Ⅱ )-Ⅰ-Rhodamine B in ihe presence of polyvinyl alcohol. The maximum absorption of the ion-association complex was at 595nm, Beer's law was obeyed for mercury (Ⅱ ) in the range of 0~5?g/25ml. The apparent molar absorptivity was 7. 36 ?105L/mol?cm. The recovery of mercury was 97. 0% ~ 103. 0%,RSD

A growing body of evidence has indicated the important role of autophagy receptors in directing ubiquitinated or non-ubiquitinated cargos towards autophagy. Autophagy receptors bind to LC3 (microtubule-associated protein 1 light chain 3) on phagophore and autophagosome membranes, and recognize signals on cargoes in the delivery system of autophagy. However, the diverse domains in the receptor structures determine that their roles would never be limited to autophagy. Up to date, increasing numbers of the receptor proteins have been demonstrated to serve as a molecular link or switch participating in autophagic degradation, apoptosis or cell survival signals. Here, we highlight the non-autophagic roles of these receptor proteins to draw attention to this growing research topic.

Objective:To explore the inflammatory responses of macrophages treated with Helicobacter pylori. Methods:Cytokines IL-23,IL-10,TNF-α and IL-8 in cell culture supernatant of macrophages stimulated with Helicobacter pylori were determined by ELISA kits,and the expression of intracellular proteins NOS2 and COX2 in Helicobacter pylori treated macrophages was analyzed by Western blot. Then,the apoptosis of Helicobacter pylori stimulated macrophages was detected by flow cytometry. Results:The secretion of cytokines IL-23,IL-10,TNF-α and IL-8 in the culture supernatant of Helicobacter pylori treated macrophages increased significantly (P<0. 05),and the expression of NOS2 and COX2 was enhanced evidently(P<0. 05). Meanwhile,helicobacter pylori could induce the apoptosis of macrophages obviously ( P<0. 03 ) . Conclusion: The inflammatory responses of macrophages treated with Helicobacter pylori would be promoted to inhibit or kill Helicobacter pylori,furthermore,Helicobacter pylori could induce the apotosis of macropha-ges.

Objective To analyze the activity of the vastus medialis (VM) and vastus lateralis (VL) muscles in the dynamic stabilization of the patella in patients with patellofemoral pain (PFPS) using standard surface electromyographic (sEMG) tests.Methods This comparative study involved 7 patients with PFPS (13 knees) and 10 healthy subjects (20 knees).They performed weight-bearing squat movements,and sEMG was employed to measure the mean amplitude and the time before peak (TBP) of their VM and VL muscles.Results There was no significant difference between the two groups in the ratio of the mean amplitudes of the VM and VL muscles.However,the ratio in both groups in squatting was significantly higher than when simply standing.In the PFPS group the average TBP delay of the VM relative to the TBP of the VL was significantly longer than in the control group during squat movements.Conclusions The delay in the TBP of the VM relative to the VL during squat movements could serve as a standardized test for assessing treatment effect in patients with local factor PFPS.

Objective To explore the influence of 8-week aerobic exercise in heart rate variability (HRV)in obese adolescents and to provide the evidence for formulating special exercise prescription.Methods Forty male obese adolescents (BMI≥25 kg·m-2 )were randomly divided into exercise group (n=20)and control group (n=20). The subjects in exercise group conducted a 8-week (five times/week,50-60 min)aerobic exercise while those in control group maintained their routine lifestyle. The body composition, hemodynamic parameters including heart rate(HR)and blood pressure and HRV parameters including total power (TP),normalized low frequency (LFn), normalized high frequency (HFn)and LFn/HFn ratio were measured before and after experiment.Results There were no significant differences of the indicators of the subjects between two groups before experiment (P>0.05). At the end of experiment,compared before experiment,the fat mass(FM),the percentage of body fat(BF%), the rest HR,SBP and DBP were decreased (P<0.05 or P<0.01);the TP and HFn were increased(P<0.01);the LFn and LFn/HFn ratio were reduced (P<0.01)in exercise group after experiment;but the indexes of the subjects in control group showed no significant changes (P>0.05).Compared control group,the FM,the BF%, the rest HR,SBP,DBP,LFn and LFn/HFn ratio were decreased while the TP and HFn were increased (P<0.01)in exercise group after experiment.Conclusion Aerobic exercise may effectively reduce the sympathetic activity and increase the vagal tone in the obese adolescents.

Objective To study the efficacy and safety of low-dose azithromycin with tiotropium bromide in the treatment of stable chronic obstructive pulmonary disease.Methods A hundred and ten patients were randomized into three groups:tiotropium bromide group (36 cases,group A),azithromycin with tiotropium bromide group(38 cases,group B)and control group(36 cases,group C).Patients in group A were given tiotropium bromide (18 μg,q,d )in addition to conventional treatment.The patients in group B were given lowdose azithromycin (250 mg,twice a week) in combined with tiotropium bromide.The patients in control group were given the conventional treatment only.The courses of treatment lasted for six months.Results Compared with the control group,the frequency of acute exacerbation in patients treated with azithromycin and tiotropium bromide was reduced remarkably ( 2.1 ± 0.6 and 4.9 ± 0.7,t =18.5061,P ＜ 0.05 ).The severity of clinic symptoms ( Cough 1.3 ± 0.5 vs.2.2 ± 0.6,P ＜ 0.05 ),expectoration ( 1.0 ± 0.2 vs.1.7 ± 0.3,P ＜ 0.05 ),anhelation ( 1.5 ± 0.8 vs.2.1 ± 0.6,t =3.6342,P ＜ 0.001 ) ],life quality ( 29 ± 8 vs.42 ± 11,P ＜ 0.05 ) and six-minutes walking distance( [ 370.00 ± 14.26 ] m vs.[ 290.00 ± 12.85 ] m,P ＜ 0.05 ) of the azithromycin with tiotropium bromide group were improved significantly when compared with control.Compared with the tiotropium bromide group,the frequency of acute exacerbation ( 2.1 ± 0.6 vs.3.2 ± 0.8,P ＜ 0.05 ),the severity of clinic symptoms (Cough 1.3 ±0.5 vs.1.8 ±0.4,P＜0.05),expectoration( 1.0 ±0.2 vs.1.3 ±0.3,P ＜0.05) and anhelation( 1.5 ±0.8 vs.1.9 ± 0.6,P ＜ 0.05 ) ],life quality ( 29 ± 8 vs.36 ± 10,P ＜ 0.05 ) and six-minutes walking distance ( [ 370.00 ± 14.26 ] m vs.[ 330.00 ± 13.76 ] m,P ＜ 0.05 ) were improved over those of tiotropium bromide group.Conclusion The long-term low-dose azithromycin in combinned with tiotropium bromide is good and safe in treating stable COPD.Therefore,it is worth of further clinical evaluation.

Objective To analyze the electrocardiography ( ECG ) data of pressure overload ?induced chronic heart failure rats. Methods Totally 20 SD rats were randomly divided into sham operation group and heart failure group. Heart failure rats were induced by abdominal aorta constriction. Echocardiogram measurement demonstrated the occurrence of cardiac function. Two lead ECG parameters of limb a was measured and statistically analyzed. Results Ten weeks after operation, there was a increase in heart rate, P amplitude, P duration and R amplitude comparing by those of the sham operation group (P < 0?05). ECG showed a significant and ubiquitous J point elevation (P < 0?05), with ST segment notable depression ( P < 0?05 ) . Conclusions ECG in pressure?overload chronicity heart failure rats exhibits obviously characteristic features. ECG is an useful tool for objective and accurate assessment of cardiac function in rats.