Objective To explore the correlation of PAI-1 and TNF-α and the pathophysiology of the metabolic syndrome (MS) and coronary heart disease,and explore the role of metformin in the MS.Methods Sixty cases of old patients with the MS were chosen.These patients were divided into two groups at random.One group interfered with living style and metformin,the other group only interfered with living style.The activity of PAI-1 was detected by chromogenic substrate method,and the level of TNF-α was detected by ELISA assay.Results (1) The levels of PAI-1 and TNF-α in the MS patients [(0.95 ± 0.05) AU/ml,(24.81 ± 3.87)ng/ml] were significantly higher than in normal old people[(0.66 ± 0.10)AU/ml,(10.76 ±2.00) ng/ml] (P ＜0.001) ;(2)The levels of PAI-1 and TNF-α in the MS patients with CHD [(0.96 ± 0.05) AU/ml,(26.12 ± 2.83) ng/ml] were significantly higher than those in the patients without CHD [(0.94 ± 0.03) AU/ml,(23.71 ± 4.27) ng/ml] (P ＜ 0.05) ;(3)The activity of PAI-1 and the level of TNF-α in the metformin group was decreased significantly [△ was (0.20 ± 0.17)AU/ml,(4.42 ± 0.85ng/ml),P ＜0.01],and metformin can improve the components of the MS.Conclusions The old patients with MS is prone to develop cardiac vascular disease.PAI-1 and TNF-α participate in pathophysiology of the MS and its complication.Metformin can inhibit the expression of PAI-1 and TNF-α to suppress the components of the MS,and block the complication of the MS.

Objective To investigate the effects of the free radical scavenger,edaravone,on patients undergoing cardiac valve replacement under cardiopulmonary bypass (CPB). Methods Thirty patients,including 7 males and 23 females,at a mean age of 41.4?10.4 (23 to 63),undergoing mitral or/and aortic valve replacement (MVR or AVR) under CPB from March to December 2009 in our hospital were subjected,and then divided into 2 matched groups by means of random number table,study group (n=14) and control group (n=16).Inclusion criteria: patients received valve replacement surgery under CPB; aging from 20 to 65; heart function: class Ⅰto Ⅲ; liver,kidney and lung function properly; blood gas and electrolyte properly. Exclude criteria: preoperatively used scavenger and the like; there was a history of cerebrovascular or neuropsychiatric symptoms; had a history of myocardial infarction or other coronary artery disease. In the intervention group,0.5 mg/kg of edaravone was diluted to 20 ml and introduced into CPB unit at the beginning,while the same dose of saline water was given in control group in the same way. Blood samples were collected from radial artery at following 5 time points,the beginning of CPB (T0),the end of CPB (T1),30 min (T2),6 h (T3),and 24 h (T4) after CPB. After the blood samples of all cases were collected,the serum level of hematocrit (HCT),malondialdehyde (MDA),inducible nitric oxide synthase (iNOS),cardiac troponin I (cTnI),creatine kinase-MB (CK-MB),myoglobin (Myo),S100 protein and neuron-specific enolase (NSE) was detected. Cardiac resuscitation and critically postoperative complications were observed. Results The level of HCT at T1-T3,cTnI at T4 was lower in study group than that in control (P

Objective To observe the MRI findings of normal pancreas in piglets. Methods Eight healthy piglets underwent MR examination, and the morphology, size, signal intensity of pancreas were observed. After MR imaging, all piglets were abdominally incised to observe the anatomy of pancreas and pancreatic adjacent structures. The opening of both common bile duct and pancreatic duct were detected during operation. Two piglets were sacrificed after operation and the whole pancreases were dissected for anatomic research. Results The pancreas of piglets was composed of three parts: right lobe, median lobe and left lobe. All the lobes were displayed clearly on MRI. The signal intensity of pancreas was higher than that of liver and spleen on T1WI, whereas lower than that of liver and spleen on T2WI. On MRCP, pancreatic duct was not presented, whereas the common bile duct could be seen clearly. The opening of common bile duct located at superior part of duodenum (nearby the pylorus) and the opening of pancreatic duct situated at duodenal papilla corresponding to pancreatic right lobe. Conclusion MRI can show the pancreas of piglets very well. The morphology of pancreas and features of common bile duct conjunction with pancreatic duct in piglet are different from those in human.

ObjectiveTo investigate the effect of magnesium sulfate combined with monosialoganglioside on the recovery of motor function after spinal cord injury in rats.Methods48 healthy adult rats were randomly divided into groups A, B, C and D, and SCI was made by Allen's mode(10 g×25 mm) on spinal cord T9 extradually, 12 rats in each group. On the 1st d, 3rd d and 7th d after SCI, the recovery of motor function after spinal cord injury in rats was assessed with Basso-Beattie-Bresnahan(BBB)scale and slanting board test. Thiobarbituric acid was used to detect the concentration of malondialdehyde, and was observed the change of free radicals.ResultsAfter spinal cord injury in rats, BBB scores and slanting board test of groups A, B and C were better than group D. BBB scores and slanting board test of group C was better than groups A and B, which had significant difference on the 3rd d and 7th d after injury(P<0.05). After spinal cord injury in rats, concentration of malondialdehyde of groups A, B and C were lower than group D(P<0.05). Concentration of malondialdehyde of group C was lower than groups A and B, which had significant difference after injury(P<0.05).ConclusionMagnesium sulfate combined with GM1 can promote the recovery of motor function early after spinal cord injury in rats, and is superior to magnesium sulfate or GM1.

Objective To observe the effects of electroacupuncture combined with edaravone on the conduction velocity of sciatic nerve and oxidative stress in rats with diabetic peripheral neuropathy. Methods 60 Sprague Dawley (SD) rats were included. 10 of them were selected as normal group. The other rats were modeled as diabetic peripheral neuropathy with streptozotocin. 48 of them were randomly selected and divided into electroacupuncture group (n=12), edaravone group (n=12), electroacupuncture + edaravone group (n=12), and model group (n=12). The threshold temperature for wave tail was tested, the levels of superoxidase dismutase (SOD) and malonaldehyde (MDA) were determined, and the conduction velocity of sciatic nerve were measured, before, and 4 and 8 weeks after modeling. Results 8 weeks after modeling, the conduction velocity and SOD increased in the electroacupuncture group, edaravone group and electroacupuncture+edaravone group compared with the model group (P<0.01), with the MDA decrease (P<0.01), while it was improved more in the electroacupuncture+edaravone group than in the electroacupuncture group or the edaravone group (P<0.01). Conclusion Both electroacupuncture and edaravone can inhibit oxidative stress and improve nerve conduction velocity of the sciatic nerve in rats with diabetic peripheral neuropathy, and it is more effective of combination.

OBJECTIVETo study the chemical constituents of ethyl acetate-soluble fraction from methanolic extract of the roots and rhizomes of Notopterygium incisum .

METHODThe chemical constituents were isolated and purified by various chromatographic methods, and their structures were identified by NMR and MS data analysis.

RESULTFive compounds were obtained and identified as falcarindiol (1), 8-hydroxy-l-methoxy-( Z) -9-heptadecene-4, 6-diyn-3-one (2) angenomalin (3), scopoletin (4), O-methylnotopterol (5).

CONCLUSIONCompound 5 was a new natural product and compounds 2-4 were isolated from the roots and rhizomes of N. incisum for the first time.

Apiaceae ; chemistry ; Coumarins ; analysis ; isolation & purification ; Plant Extracts ; analysis ; isolation & purification ; Plant Roots ; chemistry ; Rhizome ; chemistry

Objective: To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism. Methods: Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Results: The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs. Conclusion A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease.

Objective: Autoimmune polyendocrine syndrome type Ⅰ(APS-Ⅰ) is caused by mutations in the autoimmune regulator gene (AIRE) gene. In this study, phenotype and AIRE gene analysis were performed in two patients with APS-Ⅰ. Methods: Peripheral blood samples were collected from two patients with APS-Ⅰ and their families. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. The silico analysis was performed to predict the possible impact of the mutations on the function of the AIRE protein. At the same time, 100 healthy controls were selected to confirm the mutation. Results: Case 1 was a 31-year-old female who exhibited chronic mucocutaneous candidiasis, hypoparathyroidism, Addison′s disease, Hashimoto′s thyroiditis, and premature ovarian failure. A homozygous c. 483_484insC mutation in exon 4 of AIRE gene was identified in this patient. Her parents, siblings and son were heterozygous for this mutation, which is consistent with the autosomal recessive inheritance pattern. Case 2 was a 34-year-old male who had mucocutaneous candidiasis, Addison′s disease, primary hypoparathyroidism, and Hashimoto′s thyroiditis. A compound heterozygous AIRE mutation (c.179A>G/C.463+ 2T>C) were identified in this patient. His father was heterozygous for c. 179A>G mutation, and his mother was heterozygous for C. 463+ 2T>C, which is consistent with autosomal recessive inheritance mode. The c. 483_484insC and c. 463+ 2T>C have been reported to be pathogenic. The c. 179A>G mutation was predicted pathogenic by SIFT and PolyPhen2 software, which was not detected in 100 healthy controls. It has not been reported in the HGDM database and is a novel mutation. Conclusion We identified a novel AIRE gene mutation (c.179A>G), which contributed to further understanding of the pathogenesis of APS-Ⅰ. The clinical variation and rarity of APS-Ⅰ makes the syndrome hard to recognize. Early recognition of symptoms and screening for AIRE mutation in patients with APS-Ⅰ has important clinical implications for the diagnosis and treatment.

Objective:Kallmann syndrome(KS) is a complex genetic disease characterized by congenital hypogonadotropic hypogonadism and anosmia. More than 20 genes have been reported to be associated with KS. Herein, we explore potential genetic aberration in 3 KS patients using the whole-exome sequencing. The potentially pathogenic variants filtered were validated by Sanger sequencing.Methods:Genomic DNA was extracted from the peripheral blood of 3 patients with KS and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants identified using whole-exome sequencing. The function of the mutation sites were analyzed with bioinformatics software.Results:The proband 1 was a 25 years old male, characterized by lower gonadotropin gonad hypofunction, early grey hair and bilateral sensorineural hearing loss. A heterozygous mutation c. 475C>T(p.R159W) of SOX10 gene was detected in the proband 1. His mother, sister and cousin who had KS phenotype were also found carrying this mutation, showing an autosomal dominant inheritance. The proband 2 was a 15-year-old male with hypogonadotropic hypogonadism and unilateral renal agenesis. The proband was hemizygous for c. 844delC(p.R282Vfs*28) of ANOS1 gene, his mother was heterozygous for the mutation, which was consistent with the X-linked recessive inheritance. The proband 3 was a 21 years old female, characterized by hypogonadotropic hypogonadism and anosmia. A heterozygous missense mutation c. 149G>A(p.R50Q) was detected in FGF17 gene. The mutation p. R50Q was predicted to be pathogenic by the SIFT and PolyPhen2 programs, and has not been reported in HGDM database yet, which considered to be a novel mutation.Conclusion:KS is a clinically and genetically heterogeneous disease. In this study, ANOS1 c. 844delC, SOX10 c. 475C>T and FGF17 c. 149G>A mutations were found in 3 patients with KS by whole exome sequencing, which would expand the genotypic and phenotype spectrum of KS.

Tumor-induced osteomalacia(TIO)is a rare paraneoplastic syndrome in which tumor-induced osteochondrosis is a metabolic bone disease caused by increased renal excretion of phosphorus due to excessive secretion of fibroblast growth factor 23(FGF23)by tumor tissue.We report here a rare case of TIO in which the tumor was found in the hyoid body and the patient had tertiary hyperparathyroidism.The patient's symptoms did not improve after removal of the tumor from the hyoid body,and the patient's hypophosphatemia was gradually improved after subsequent removal of the left parathyroid gland.TIO derived from the tongue tumor is very rare,and also subsequent tertiary hyperparathyroidism is even rarer.This report helps to improve the understanding of TIO and provides reference in the diagnosis and treatment of TIO.