Objective: To introduce a new method which can avoid the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy. Methods: The coding regions of ABCD1 gene of 3 unrelated Chinese patients with X-linked adrenoleukodystrophy were amplified from the total RNA of peripheral blood by long distance RT-PCR; the product was further amplified in 4 segments in a second round PCR; and the PCR products were purified and directly sequenced. To confirm the mutations, the genomic DNA from peripheral blood cells of the patients was analyzed by direct sequencing after amplification of the ABCD1 genes by nested PCR, in which the product of the first round PCR covered the fragment starting from exon 6 and ending at 3′UTR of the ABCD1 gene. Results: The 3 Chinese patients with X-linked adrenoleukodystrophy had 3 different base substitutions(2235C>T,2065C>T and 2190A>T)in the ABCD1 genes of the 3 probands and their mothers, which resulted in 2 missense mutations (R617C and P560L) and one nonsense mutation (K602X). Conclusion: Nested PCR can rapidly and efficiently avoid the interference of ABCD1 pseudogenes in the molecular diagnosis of X-ALD.

Objective To investigate the relationship between insulin resistance and erythrocyte in- sulin receptors in patients with gout associated with macroalbruminuria(MAU).Methods FBG,PBG,FINS, P2hINS,CH,TG,HDL,LDL-c,UA and erythrocyte insulin receptors were determined in 44 patients with MAU,62 patients with normal MAU(NMAU).Results In MAU,the levels of FINS,TG,LDL-c and HOMA-IR were(16?4)mU/L,(2.5?0.6)retool/L,(3.2?0.5)mmol/L and 3.6~1.2 respectively.While they were(13?3) mU/L,(2.3?0.8)mmol/L,(3.0?0.5)mmol/L and 3.0~0.4 in NMAU group.The levels of FINS,TG,LDL-c and HOMA-IR were significantly higher in the MAU patients than those in NMAU patients(P

OBJECTIVETo study the protective effect of Naomaitong on inflammatory cascade response after focal cerebral ischemia reperfusion in aged rats.

METHODWe duplicated focal cerebral ischemia model with MCAO, with ischemia 3 h and I/R 1, 3, 6, 12 d points. The effect of Naomaitong on the nervous dysfunction score, the water content of cerebral constitution and the expression of TNF-alpha, VCAM-1, ICAM-1 and its mRNA were observed, and the group with nimodipine was as control.

RESULTThe nervous dysfunction score (I/R1, 3, 6 d), the water content of cerebral constitution (all the time points), the expression of TNF-alpha, VCAM-1 (I 3 h, I/R 1, 3, 6 d), ICAM-1 (I 3 h,I/R 1, 3, 6 d) and its Mrna (all the time points) in model group were higher than those of the sham-operated group; The nervous dysfunction score, the water content of cerebral constitution (I/R 3, 6, 12 d), the expression of TNF-alpha, VCAM-1 (I 3 h, I/R 1, 3 d), ICAM-1 and its mRNA (I 3 h, I/R 1, 3 d) in model group were decreased compared with that of model group. The nervous dysfunction score (I/R 6, 12 d), the expression of TNF-alpha, ICAM-1 (I/R 1d) and its mRNA (I/R 1, 3 d) in Naomaitong group were higher than that of Nimodipine group.

CONCLUSIONNaomaitong could protect brain cell from damage after focal cerebral ischemia reperfusion injury by inhibiting the expression of TNF-alpha, adhesion molecule.

Animals ; Brain ; metabolism ; pathology ; Brain Ischemia ; etiology ; metabolism ; pathology ; Drugs, Chinese Herbal ; isolation & purification ; pharmacology ; Infarction, Middle Cerebral Artery ; chemically induced ; Intercellular Adhesion Molecule-1 ; biosynthesis ; genetics ; Male ; Neuroprotective Agents ; isolation & purification ; pharmacology ; Plants, Medicinal ; chemistry ; RNA, Messenger ; biosynthesis ; genetics ; Rats ; Rats, Sprague-Dawley ; Reperfusion Injury ; etiology ; metabolism ; pathology ; Tumor Necrosis Factor-alpha ; metabolism ; Vascular Cell Adhesion Molecule-1 ; metabolism

OBJECTIVETo observe the effects of N-acetylcysteine (NAC) on aging in neonatal SD rat cardiomyocytes and explore related mechanisms.

METHODSCultured cardiomyocytes were randomized assigned to 6 groups: 1-day, 5-day, 10-day, 1-day + NAC (1 mmol/L), 5-day + NAC (1 mmol/L) and 10-day + NAC (1 mmol/L). Flow cytometry was used to examine cell cycle. Real-time quantitative PCR and Western blot were used to determine mRNA and protein expression of p16INK4a, p21WAF1 and Rb gene. beta-galactosidase staining kit was used to investigate beta-galactosidase activity.

RESULTSNumbers of cardiomyocytes resided in G(0)/G(1) phase were significantly higher in the group of 5-day + NAC and 10-day + NAC compared with 5-day, 10-day, respectively (P < 0.05). The mRNA and protein expression of p16INK4a and p21WAF1 were also significantly higher in the group of 5-day + NAC and 10-day + NAC compared with 5-day, 10-day, respectively (P < 0.05 or P < 0.01). The mRNA and protein expression of Rb was significantly lower in the group of 5-day + NAC and 10-day + NAC compared with 5-day, 10-day, respectively (P < 0.01). beta-galactosidase activity was not affected by NAC in the 1-day + NAC group but was significantly higher in 5-day + NAC and 10-day + NAC groups compared with the 5-day, 10-day groups (all P < 0.05).

CONCLUSIONNAC could promote aging through upregulating the expression of p16INK4a and p21WAF1 and inhibiting Rb phosphorylation in neonatal SD rat cardiomyocytes.

Acetylcysteine ; pharmacology ; Animals ; Cell Cycle ; Cells, Cultured ; Cellular Senescence ; drug effects ; Cyclin-Dependent Kinase Inhibitor p16 ; metabolism ; Cyclin-Dependent Kinase Inhibitor p21 ; metabolism ; Myocytes, Cardiac ; metabolism ; RNA, Messenger ; genetics ; Rats ; Rats, Sprague-Dawley

Objective To investigate the current conditions of water iodine,childrens'iodine nutrition and residents'edible circumstance of iodized salt in the villages with high iodine in drinking water and the adjacent three villages in Xiamen city of Fujian province.Methods Four natural villages of Qianbian,Donglian,Dazhong and Dongshan of Xiangan county were chosen as survey spots in 2008.In each village,one running water sample and all well water samples were collected to obtain the benchmark for each location.All children aged 7-13 year in the four villages underwent thyroid palpation and were selected to measure the urine iodine and the salt iodine.The water iodine and urine iodine were determined by As3+-Ce4+ catalytic spectrophotometry digestion,salt iodine was determined by direct titration.Results In four investigated villages,iodine of four running water samples were all 1.5μg/L.The range of 237 well water iodine samples was from 0.1 μg/L to 506.0 μg/L.There were 18.6% (44/237)specimens in which the well water iodine less than 10 μg/L,73.4%(174/237)between 10 μg/L and 150 μg/L and 8%(19/237)more than 150μg/L.The median of urinary iodine was 153.3 μg/L in 79 urine samples,which was 114%(9/79)more than 200μg/L and less than 300μg/L,12.7%(10/79)equal or more than 300 μg/L and less than 500μg/L,7.6%(6/79)equal or more than 500μg/L and less than 800 μg/L in all samples.Seventy-nine students were examined by palpation and the total goiter rate of children measured was 11.4% (9/79).Seventy-one samples of iodine salt were detected and the coverage rate of iodized salt was 77.5%(55/71).Conclusions The well water iodine contents have a wide distribution in the investigated villages.We should enhance the community awareness by educating them on the damage of iodine excess and iodine deficiency.

Objectives To investigate changes in serum levels of adiponectin,leptin and erythrocyte membrane insulin receptor among patients with gestational diabetes (GDM),and to study their relation to insulin resistance.Methods Fasting plasma glucose (FPG),fasting serum insulin (FINS), serum levels of adiponeetin and leptin,indices of lipid metabolism,2 h plasma glucose during oral glucose tolerance test (2 h PG),2 h serum insulin during oral glucose tolerance test (2 h INS),as well as number of erythrocyte membrane insulin receptors with high and low appetency and its constants,were determined in 40 patients with GDM and 34 controls with normal glucose tolerance.Insulin resistance index (IRI) was calculated.Results ① Serum levels of leptin and adiponectin were (11.7?2.8) ?g/L and (7.8?1.6) ?g/L,respectively,and number of high appeteney erythrocyte membrane insulin receptor (R_1) and low appetency erythrocytemembrane insulin receptor (R_2) was (43?9) / red cell and (2297?525) / red cell,respectively.Serum level of leptin was significantly higher in those with GDM than those of normal controls (P

Objective To evaluate the preliminary experience and mid-term outcome of transcatheter aortic valve replacement(TAVR)in patients with calcifi ed severe aortic stenosis.Methods From December 2014 to February 2016, 10 TAVR cases were admitted in the Cardiovascular Hospital, Xiamen University. The baseline characteristics, echocardiography parameters and clinical follow-up data were analyzed. Results All cases were complicated with impaired heart function(NYHAⅢ in 4 cases, NYHA Ⅳ in 6 cases). The mean age was (75.1±6.2) years and 4(4/10) of them were men. The mean logistic EuroSCORE was (27.2±23.6) % and the mean society of thoracic surgery (STS) mortality score was (9.1±4.8) %. Five cases had bicuspid aortic valve. TAVR was successfully performed in all 10 patients, and valve-in-valve implantation was done in 1 (10%) case. Immediately after procedure, the peak trans-aortic valve pressure gradient decreases from (85.9±22.7) mmHg to (23.2±5.4) mmHg. One case had marginal moderate periprosthetic leak and one case received stent implantation for femoral artery complication during the procedure. During hospitalization, 1 case had blood transfusion for gastrointestinal bleeding and permanent pacemakers were implanted in 2 (2/10) cases. The survival rate was 10/10 at 30 days after TAVR. One case with end-stage renal disease died for gastrointestinal bleeding 36 days after TAVR. For the other 9 patients, 12 months echocardiography data showed that the peak and mean trans-aortic valve gradient was (20.0±5.2) mmHg and (10.6±3.1) mmHg respectively. The lef t ventricular diastolic diameter(LVDD)decreased[(56.5±9.4)mm vs.(51.8±7.6)mm,P=0.035] and left ventricular ejection fraction(LVEF)increased significantly[(46.9±22.2)% vs.(63.7±9.4)%, P=0.029].To date,median follow-up period was(22.0±4.8)month.Clinical symptoms improved in all the 9 cases. The patient with periprosthetic leak had record of hospitalization for several times due to heart failure. Conclusions From the initial TAVR experience of our hospital, TAVR can be done safely and smoothly after strictly TAVR candidate cases selection.

Objective: To assess the clinical application of percutaneous balloon aortic valvuloplasty (PBAV) in patients with calcified severe aortic stenosis (AS) combining heart failure (HF). Methods: A total of 15 relevant patients treated by PBAV in our hospital from 2014-12 to 2017-05 were studied. The baseline information, echocardiography parameters, peri-operative situation and follow-up condition were summarized. Results: All 15 AS patients were combined with severe HF including 3 with NYHA III and 12 with NYHA IV; 2 cases had cardiac shock. 6/15 patients received palliative PBAV for symptom relieving and 9 for bridging step (1 case pre-operative step for non-cardiogenic surgery). PBAV was successful in all patients; the average operative dilation was (2.60±1.3) times; 2 patients suffered from complete left bundle block at immediate post-operation, 1 had ventricular tachycardia during the operation and 1 had ischemic stroke 3 days after operation, no other complications occurred. Catheter measured immediate post-operative peak trans-valvular pressure gradient was decreased from (75.0±24.0) mmHg to (39.8±14.2) mmHg, P<0.01. Echocardiography showed that before discharge, the max flow velocity was reduced from (4.98±0.76) m/s to (4.20±0.75) m/s, P<0.01, max-PG reduced from(101.3±30.4) mmHg to (72.9.0±23.3) mmHg, P<0.01, mean-PG reduced from (62.4±19.0) mmHg to (44.9±15.1) mmHg, P<0.01;while left ventricular diastolic dimension and LVEF were similar at per- and post-operation, P>0.05. NT-proBNP was decreased from (13 889±12 303) pg/ml to (5 412±4 923) pg/ml, P<0.01. The average post-operative follow-up time was (3-27) months and the median NYHA grade improved from IV to II. Conclusion: Palliative and bridging PBAV was reliable and safe in severe AS-HF patients for short time, it had less complication and could be used as an optional treatment.

OBJECTIVETo obtain information on viral molecular structural and evolutionary characteristics, we conducted the SZ2010422 full-length genomic analysis.

METHODSPrimers were designed by New Orleans full sequence, SZ2010422 full genome was amplified by RT-PCR, the whole genome sequence and the capsid domain amino acid sites was analysised after cloned and sequenced.

RESULTSThe genome of G II-4 Norovirus SZ2010422 strain was consist of 7559 bp, it revealed three ORFs composites of the whole genome, ORF1 (5100 bp), ORF2 (1623 bp), ORF3 (807 bp) respectively, ORF1 and ORF2 had 19 nucleotide overlap. By evolutionary comparative analysis found SZ2010422 genomic nucleotide sequences with reference strains of G II-4 New Orleans1805 strains the highest homology with a total length of homology was 99.3%, of ORF1 (99.5%), ORF2 (99.2%), ORF3 (98.6%). Phylogenetic analyses showed SZ2010422 belonging to G II-4 New Orleans variant. Date of 541 amino acid analyses showed: New Orleans variant strains of popular sites: aa310N or K, --> S aa341D --> of N, aa359T--> S, aa396H --> P, aa460H --> Y.

CONCLUSIONNorovirus SZ2010422 belonged to the G II-4 New Orleans variant. In This study, SZ2010422 full sequence can be used not only as a full-length NoV variant sequence standard for future comparison studies, but also as useful material for the public health field by enabling the diagnosis, vaccine development, and prediction of new emerging variants. Noroviruses; Genes; Sequence analysis

China ; Genome, Viral ; Norovirus ; classification ; genetics ; Open Reading Frames ; Phylogeny ; Sequence Analysis, DNA

Material properties and hygroscopicity were determined. Principal component analysis and partial least squares regression were applied to evaluate relationships between material properties and hygroscopicity of Chinese medicine raw materials. The results showed that hygroscopicity was correlated with water content, particle size distribution, water soluble characteristic and cohesion. Balanced moisture content was positively correlated with water content, particle size distribution, water soluble characteristic and cohesion. Moisture absorption velocity was negatively correlated with particle size distribution, protruding degree and positively correlated with water soluble characteristic and cohesion. Moisture absorption acceleration was positively correlated with water content, particle size distribution and negatively correlated with water soluble characteristic and cohesion. Hygroscopicity of Chinese medicine raw materials is interpreted in terms of physics.
Absorption ; Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Least-Squares Analysis ; Multivariate Analysis ; Particle Size ; Plants, Medicinal ; chemistry ; Principal Component Analysis ; Solubility ; Water ; analysis ; Wettability