Genetic Diseases, Inborn ; economics ; prevention & control ; therapy ; Humans ; Metabolic Diseases ; economics ; prevention & control ; therapy

Objective To explore the effect of the thyroid morphologic change,the initiating treatment time and the thyroid function(serum FT_4,TSH)on mental development in children with congenital hypothyroidism (CH).Methods After diagnosed,52 cases of CH were orally administrated with L-T_4,then their mental and physical development were monitored and thyroid morphologic changes were observed by thyroid imaging(~(99m)TcO_4) and type B ultrasonography.The Bayley test was performed at the age of 10 to 30 months and expressed as mental developmental index(MDI)and psychomotor developmental index(PDI).Analysis was conducted upon treatment timing and thyroid morphologic changes.Results The MDI in those cases with morphologic abnormalities treated within 90 days was significantly lower than that with normal morphology(91?20 vs 105?15,P

Adrenal Hyperplasia, Congenital ; complications ; metabolism ; Body Height ; Growth Disorders ; etiology ; Humans ; Risk Factors ; Steroid 21-Hydroxylase ; metabolism

Objective To evaluate the clinical significance of the diameter of the esophageal hiatus on multislice spiral CT(MSCT)and to present the MSCT manifestations of esophageal hiatus hernia (EHH).Methods(1)The distance between diaphragmatic crura(DDC),which indicated the diameter of esophageal hiatus,was measured in 140 normal adult patients on their thoracic and/or abdomenal CT images.(2)The DDC of 56 patients with EHH diagnosed by barium examination was measured on MSCT, and the MSCT findings were analyzed retrospectively.Results(1)The DDC of 140 normal adult cases were(13.44?4.41)mm on average and increased with age.The mean DDCs of patients under the age of 59 year-old(80 cases)and over 60-year-old(60 cases)were 11.03?2.10 mm and 16.67?4.64 mm respective]y,there was a significant difference(t=8.762,P

Objective To investigate the association between ten single nucleotide polymorphism (SNP) in the peroxisome proliferator-aetivated receptor (PPAR) α/δ/γ and essential hypertension (EH).Methods Participants were recruited within the framework of a cohort populations survey from the PMMJS (Prevention of Multiple Metabolic Disorders and MS in Jiangsu Province) which was conducted in the urban community of Jiangsu province from 1999 to 2007.Eight handred and twenty subjects (551 non-hypertensive subjects,269 hypertensive subjects) were randomly selected but were not related to each other.Ten SN P ( rs 135539,rs1800206,rs4253778 of PPAR αt; rs2016520,rs9794 of PPARδ ; rs10865710,rs1805192,rs4684847,rs709158 and rs3856806 of PPARγ ) were selected from the HapMap database.x2 test was used to determine whether the whole population was in H-W genetic equilibrium.SHEsis software was used to examine the relations of SNP and linkage equilibrium.Logistic regression model was used to examine the association between ten SNP in the PPAR and EH.Results Difference on the distribution of four SNP genotypes including rs1800206,rs9794,rsl0865710 and rs4684847 between high blood pressure and non-high blood pressure group,high systolic blood pressure(SBP) and normal SBP group,high diastolic blood pressure(DBP) and normal DBP group was significant (P＜0.05).After adjusting factors as age,sex,body mass index,fasting plasma glucose,high density lipoprotein cholesterol-C,high-fat diet and compared with wildtype gene carriers,the OR(95％ CI) of objects with rs1800206 V allele appeared in high blood pressure,high SBP and high DBP were 0.60 (0A1-0.89),0.57 (0.37-0.88) and 0.61 (0.39-0.96),respectively.The OR(95％CI) of objects with G allele of rs9794 were 0.63 (0.46-0.87),0.51 (0.36-0.73) and 0.68(0.47-1.01).The OR (95％CI) of objects with G allele of rs10865710 were 1.62 (1.19-2.20),1.59(1.14-2.22) and 1.53 ( 1.07-2.18),respectively.While the OR (95％ CI) of objects with rs4684847 T allele were 1.42 ( 1.04-1.94),1.38 (1.03-1.92) and 1.37 ( 1.00-1.88),respectively.Conclusion The four SNPs including rs1800206 of PPARα,rs9794 of PPARδ and rs4684847,rs10865710 of PPARγ influenced high blood pressure,high SBP and high DBP to different degrees.

AIMTo investigate the effects of melatonin (MT) on histology and behavioral tests during global cerebral ischemia-reperfusion in gerbils.

METHODSGlobal cerebral ischemia was induced by occluding the bilateral common carotid arteries for 10 min in gerbils. Three doses of MT were administrated intraperitoneally 30 min prior to the onset of ischemia. Locomotor activity was measured by using the open field method 3 and 7 days after the ischemic episode. T maze test was carried out 4, 5 and 6 days after ischemia to assess the working memory of gerbils. Neuronal damage was assessed in CA1 pyramidal layer of gerbil hippocampus and evaluated 7 days after ischemia.

RESULTSMT significantly reversed the locomotor activity increases, ameliorated learning and working memory deficit, and reduced the extent of CA1 hippocampal pyramidal cells injury after transient global cerebral ischemia in the Mongolian gerbil.

CONCLUSIONMT provides significantly protective effect against both histological and behavioral consequences of global cerebral ischemia-reperfusion injury in gerbils.

Animals ; Brain Ischemia ; complications ; Female ; Gerbillinae ; Hippocampus ; drug effects ; pathology ; Learning ; drug effects ; Male ; Melatonin ; pharmacology ; therapeutic use ; Memory ; drug effects ; Motor Activity ; drug effects ; Neurons ; pathology ; Neuroprotective Agents ; pharmacology ; therapeutic use ; Random Allocation ; Reperfusion Injury ; etiology ; physiopathology ; prevention & control

Objective To explore the risk factors of systemic inflammatory response syndrome crisis (SIRS) after percutaneous nephrolithotomy (PCNL) in China. Methods Databases of CNKI, CBM, WanFan and VIP were searched to retrieve studies about systemic inflammatory response syndrome after percutaneous nephrolithotomy to October, 2016. Results 18 studies involving 5,323 patients were included. The results of meta-analysis showed that:a) univariate analysis indicated that renal insufficiency [O(R) =2.78, 95%CI (1.96 to 3.95), P = 0.000], preoperative positive urine culture [O(R) = 3.41, 95%CI (1.89 to 6.15), P = 0.000], preoperative routine urine leucocyte positive [O(R) = 3.78, 95%CI (3.02 to 4.72), P = 0.000], diabetes mellitus [O(R) = 2.14, 95%CI (1.33 to 3.45), P = 0.002], pelvic positive urine culture [O(R)= 5.14, 95%CI (2.46 to 10.73), P = 0.000] and operation time ≥120 min [O(R) = 2.31, 95%CI (1.40 to 3.82), P = 0.001] were the risk factors of SIRS; b) multivariate analysis showed that, preoperative positive urine culture [O(R) = 6.83, 95%CI (2.82 to 16.57), P = 0.000], preoperative routine urine leucocyte positive [O(R) = 5.43, 95%CI (3.51 to 8.41), P = 0.000], diabetes mellitus [O(R) = 2.85, 95%CI (1.45 to 5.58), P = 0.002], pelvic positive urine culture [O(R) = 4.30, 95%CI (1.30 to 14.21), P = 0.020] and operation time ≥120 min [O(R) = 2.72, 95%CI (1.62 to 4.59), P = 0.000] were the independent risk factors of MCAT. Conclusion The independent risk factors of SIRS for patients after PCNL are diabetes mellitus, preoperative positive urine culture, preoperative routine urine leucocyte positive, pelvic positive urine culture and operation time. However, due to the quantity and low quality of the included literature, the conclusion needs the support from high quality studies.

Objective To assess the clinical values of MR angiography(MRA)in the detection of deep vein thrombosis of the lower limbs.Methods Two-dimensional time of flight(2D TOF)MRA was performed in thirty patients who were suspected of having deep vein thrombosis in the lower limbs.The findings of MRA were compared to that of digital subtraction angiography(DSA).Results twenty-five cases showed deep vein thrombosis in the lower limbs,the MRA findings included venous filling defect (14 cases),occlusions and interruptions of veins(8 cases),venous recanalizations(3 cases),collateral veins(25 cases).Taking the results of DSA as a golden standard,MRA detected all of the affected cases with only one case as the false positive.Conclusion 2D TOF MRA is a method of choice in the diagnosis of deep vein thrombosis of the lower limbs.

OBJECTIVETo investigate the association of ten SNP at peroxisome proliferator-activated receptors (PPARα, δ, γ) with hypertriglyceridemia and the gene-gene interaction.

METHODSParticipants were recruited from the Prevention of MetS and Multi-metabolic Disorders in Jiangsu province of China Study (PMMJS). A total of 820 subjects were selected from the 4083 participants who had received follow-up examination, by using simple random sampling. Participants in baseline and follow-up study surveys were both collected blood samples 11 ml in the morning after at least 8 hours of fasting. Blood samples which collected at the baseline were subjected to PPARα, PPARδ and PPARγ genotype analyses. Blood samples which collected at the follow-up were used to measure serum triglyceride levels. The logistic regression model was used to analyze the association between different SNP and hypertriglyceridemia, and the generalized multifactor dimensionality reduction (GMDR) was applied to explore the gene-gene interaction.

RESULTSThe samples included 474 in the non-hypertriglyceridemia group and 346 in the hypertriglyceridemia group. The genotype frequencies of rs1800206 in the hypertriglyceridemia group were 211 (61.0%) for LL, 132 (38.2%) for LV and 3 (0.9%) for VV, and in the non-hypertriglyceridemia group were 411 (86.7%) for LL, 59 (12.4%) for LV and 4(0.8%) for VV (χ(2) = 74.18, P < 0.01). V allele frequencies of rs1800206 in the hypertriglyceridemia group was 138(19.9%), and in the non-hypertriglyceridemia group was 67 (7.1%) (χ(2) = 60.62, P < 0.01). The genotype frequencies of rs2016520 in the hypertriglyceridemia group were 177 (51.2%) for TT, 154 (44.5%) for TC and 15 (4.3%) for CC, and in the non-hypertriglyceridemia group were 211 (44.5%) for TT, 212 (44.7%) for TC and 51 (10.8%) for CC(χ(2) = 15.93, P < 0.01). C allele frequencies of rs2016520 in the hypertriglyceridemia group was 184(26.6%), and in the non-hypertriglyceridemia group was 314 (33.1%) (χ(2) = 8.07, P < 0.01). The genotype frequencies of rs3856806 in the hypertriglyceridemia group were 149 (43.1%) for CC, 156 (45.1%) for CT and 41 (11.8%) for TT, and in the non-hypertriglyceridemia group were 269 (56.8%) for CC, 170 (35.9%) for CT and 35 (7.4%) for TT (χ(2) = 15.93, P < 0.01). T allele frequencies of rs3856806 in the hypertriglyceridemia group was 238(34.4%), and was 240 (25.3%) in the non-hypertriglyceridemia group (χ(2) = 15.96, P < 0.01). The genotype frequencies of rs1805192 in the hypertriglyceridemia group were 145 (41.9%) for PP, 158(45.7%) for PA and 43(12.4%) for AA, and in the non-hypertriglyceridemia group were 314 (66.2%) for PP, 137(28.9%) for PA and 23(4.9%) for AA (χ(2) = 50.92, P < 0.01). A allele frequencies of rs1805192 in the hypertriglyceridemia group was 244(35.2%), and was 183 (19.3%) in the non-hypertriglyceridemia group(χ(2) = 52.89, P < 0.01). After adjusting age, gender, smoking, alcohol consumption, high-fat diet, low -fiber diet and occupational physical activity factors, rs1800206, rs2016520, rs3856806 and rs1805192 were significantly associated with hypertriglyceride, while the OR (95%CI) was 3.88 (2.69 - 5.60), 0.71 (0.52 - 0.96), 1.40 (1.03 - 1.90) and 2.56 (1.88 - 3.49), respectively (P < 0.05). GMDR model analysis showed that the second-order model (rs1800206 and rs1805192) was the best model when quality traits of triglyceride was chosen as outcome (P < 0.01); while third-order model (rs1800206, rs1805192 and rs2016520) was the best model when quantitative traits of triglyceride was chosen as outcome (P < 0.01).

CONCLUSIONThe rs1800206, rs2016520, rs3856806 and rs1805192 were significantly associated with hypertriglyceridemia. There was a gene-gene interaction between multiple SNP.

Adult ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertriglyceridemia ; blood ; genetics ; Logistic Models ; Male ; Middle Aged ; Peroxisome Proliferator-Activated Receptors ; genetics ; Polymorphism, Single Nucleotide

This study is to investigate the effect of gamma-hydroxybutyric acid receptor (GHBR) on focal cerebral ischemia-reperfusion injury in rats and its mechanism. NCS-356 (the agonist of GHBR) and NCS-382 (the antagonist of GHBR) were adopted as the tool medicine. The ripe male Sprague-Dawley rats weighing 240 - 280 g were randomly divided into seven groups: sham operation group (sham), ischemia-reperfusion group (Isc/R), NCS-356 160 microg x kg(-1) group (N1), NCS-356 320 microg x kg(-1) group (N2), NCS-356 640 microg x kg(-1) group (N3), NCS-382 640 microg x kg(-1) + NCS-356 640 microg x kg(-1) group (NCS-382 + N3), and nimodipine (Nim) 600 microg x kg(-1) group. The middle cerebral artery occlusion (MCAO) model referring to Longa's method with modifications was adopted. The effect of GHBR on behavioral consequence of MCAO rats was studied after 2 h of ischemia-reperfusion. After 24 h of ischemia-reperfusion, part of animals were used to measure the cerebral infarction volume by TTC staining; ischemic cortex of another part of animals were used to measure the content of intracellular free calcium by flow cytometry, the tNOS, iNOS activity and the content of NO by spectrophotometric method, the content of cGMP by radioimmunoassay. The neurological function score and infarction volume rate in Isc/R group rats increased significantly than that in sham group; The content of intracellular calcium ([Ca2+]) of cortex neuron and cGMP, the activities of tNOS and iNOS, and the content of NO in Isc/R group were higher than that in sham group obviously (P < 0.01); These consequence we mentioned of N1, N2, N3 and Nim group were lower than that of Isc/R. NCS-382 + N3 group could significantly antagonize the above effect of N3. Thus, NCS-356 has protective effects against ischemia-reperfusion brain injury by activating GHBR. The neuroprotective effect of GHBR is related with decreasing the content of [Ca2+]i, NO, cGMP and tNOS, iNOS activity in MCAO rats.
Animals ; Benzocycloheptenes ; pharmacology ; Calcium ; metabolism ; Cerebral Cortex ; metabolism ; Cerebral Infarction ; pathology ; Cyclic GMP ; metabolism ; Infarction, Middle Cerebral Artery ; complications ; Male ; Neuroprotective Agents ; pharmacology ; Nitric Oxide ; metabolism ; Nitric Oxide Synthase ; metabolism ; Nitric Oxide Synthase Type II ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Receptors, Cell Surface ; agonists ; antagonists & inhibitors ; metabolism ; Reperfusion Injury ; etiology ; metabolism ; pathology