Objective To simply the method of how to obtain cultures rich in astrocytes from SD rat cerebral cortex which could be utilized in vitro experiments.Methods The neonatal rat cerebral cortex was made into suspension by mechanical dissociation,and then reduced other cells by differential velocity adherent technique,shaking in orbital shaker and passage of cultured cells.After purification,the cultured cells were identified by double immunofluorescence staining and SABC.Results We successfully obtain cultures rich in astrocytes and the proportion of astrocytes were more than 95%.Conclusion The method described above was reliable in obtaining the high purity astrocytes from neonatal rat cerebral cortex and double immunofluorescence staining was more vivid and direct.

Objective To investigate the effects of metformin on plasma ghrelin and peptide YY (PYY)levels in newly-diagnosed type 2 diabetic patients,and to study the impact of metformin on body weight.Methods A prospective nested case-control study was designed as a research protocol.Sixty four newly-diagnosed type 2 diabetic patients were treated with metformin for 12 weeks.The patients were divided into two groups:weight loss group and non-weight loss group according to the changes in body weight after metformin treatment.Fasting plasma ghrelin and PYY levels and other metabolic parameters were measured before and after metformin treatment.ResultsFasting plasma ghrelin level was significantly decreased in the patients after metformin treatment [ ( 10.71 ±2.68 vs 11.81 ±3.19 )ng/ml,P＜0.05 ].Fasting plasma PYY level was significantly increased in patients after metformin treatment [ ( 136.86+39.14 vs 128.42+37.31 ) pg/ml,P＜0.05 ].After metformin treatment,43.7％ of the patients lost body weight significantly.Fasting plasma ghrelin level was decreased by 16.6％ after treatment in the weight loss group,as compared with 6.2％ in non weight loss group( P＜0.05 ).Fasting plasma PYY level was increased by 10.8％ after treatment in the weight loss group,as compared with 3.5％ in the non-weight loss group (P ＜ 0.05 ).Conclusions The fasting plasma ghrelin level in the weight loss group was lowered more significantly compared with that in the non-weight loss group after metformin treatment.The fasting plasma PYY level in the weight loss group was elevated more significantly as compared with that in the non-weight loss group after metformin treatment.The mechanism remains to be further studied.

Objective To study the correlations among lumbosacral anatomical structure variations and herniation of intervertebral disc.Methods Through analyzing lumbar CT images of 684 patients with lumbocrural pain between 15 to 24 years old, the anatomical variations of spondylolysis, scoliosis deformity, lumbosacral transitional vertebra, subfissure, lumbosacral angle and others (including vertebral muscles beside, spines, transverse process on both sides) were observed, and the correlations among these anatomical variations and herniation of intervertebral disc were analyzed.Results The correlations among these above mentioned anatomical variations and herniation of intervertebral disc were 93.6%,92.3%,87.5%,81.3%,72.1%,53.3% respectively.In 91.4% of patients, the lumbosacral anatomical structure variations suffered herniation of intervertebral disc at the same time.But only 36.2% of patients suffered herniation of intervertebral disc without lumbosacral anatomical structure variations.Conclusion Lumbosacral anatomical structure variation is the main reason of herniation of intervertebral disc on teenagers.CT examination,which can reflect the correlation between them.

OBJECTIVETo detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI).

METHODSClinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced.

RESULTSThe patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation.

CONCLUSIONThe congenital NDI in the patient was probably due to mutation of the AVPR2 gene.

Adolescent ; Base Sequence ; DNA Mutational Analysis ; Diabetes Insipidus, Nephrogenic ; congenital ; genetics ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Vasopressin ; genetics

Objective To analyze the clinical characteristics of pseudohypoparathyroidism ( PHP ) inpatients in our hospital from January 2008 to December 2017 and to gain a better understanding of this disorder. Methods 18 inpatients diagnosed as sporadic PHP in our hospital were analyzed retrospectively, as regarding the clinical manifestation, laboratory examination and imaging data. Results 18 inpatients were diagnosed sporadic PHP consisting of 12 males and 6 females, with 13 adults and 5 child participants respectively. The medium age of onset was 14 (6-57), and the average age at diagnosis was (24.9± 14.7) years old. Initial onset of symptoms reported were: 12 patients complained of tetany, 3 reported convulsions, 1 reported numbness, 1 reported dysnoesia, and 1 were asymptomatic. Among them: 3 patients were found to have short distal phalanx, 7 displayed a round face, and 3 out of 15 adults were less than 155 cm in height. 12 patients had a positive Trousseau sign, 1 had an ectopic calcification. 11 were found to have intercranial massive calcifications by head computed tomography. Serum calcium was reported at (1.58 ± 0.11) mmol/ L and parathyroid hormone was (359.5 ± 146.6) pg/ ml. 3 patients were discovered to have hypothyroidism, 2 had been misdiagnosed with epilepsy, and 1 with encephalitis. Conclusions Tetany and intracranial calcifications were the most common signs of PHP patients. A number of the PHP cases in this study lacked typical Albright's Hereditary Osteodystrophy ( AHO) appearance. The age of onset and or duration of the disease varied somewhat in the different patient populations. The heterogeneity nature of the clinical manifestations of PHP makes it difficult to diagnose. It is therefore important to make accurate differential diagnosis of PHP to avoid misdiagnosis of the condition.

Objective:To analyze the genetic etiology of idiopathic short stature(ISS) children, and to investigate the clinical characteristics of Noonan syndrome caused by PTPN11 gene mutation, and the response to recombinant human growth hormone(rhGH) as well.Methods:Genomic DNA was extracted from the peripheral blood of 232 ISS patients, and the genome was detected by whole exon sequencing. The gene variation was analyzed according to the guideline of American College of Medical Genetics and Genomics(ACMG), and clinical baseline data and follow-up data of rhGH treatment were collected from PTPN11 gene pathogenic patients.Results:Among 232 ISS patients, 6 were found to have PTPN11 pathogenic gene variants(c.1507G>C, c. 317A>G, c. 923A>G, c. 922A>G, c. 236A>G, c. 922A>G), diagnosed as Noonan syndrome. Together with 3 cases of Noonan syndrome patients(all PTPN11 gene variation C. 1510A>G) previously diagnosed in our hospital, the clinical characteristics of patients were analyzed. Among the 9 Noonan syndrome patients, 7 were boys and 2 were girls. The average age was 10.2(4.5, 14.7) years old, and their height standard deviation score was -3.06 SD(95% CI -2.29 SD--3.94 SD). Among them, 4 patients received rhGH treatment with an average treatment duration of 2.25(1.5, 3.5) years. After treatment, their height increased by 14.3(8.6, 23.9) cm, and the change in height standard deviation score improved by 0.21 SD(95% CI 0.12 SD-0.27 SD). Conclusion:Noonan syndrome has a wide range of clinical phenotypes. For children with short stature, heart defects and cryptorchidism, the possibility of Noonan syndrome should be considered. PTPN11 is the common pathogenic gene for Noonan syndrome, and genetic testing facilitates the early diagnosis, treatment, and follow-up prognosis of Noonan syndrome patients.

Levetiracetam (LEV) is the second generation of broad-spectrum antiepileptic drugs. Compared with other antiepileptic drugs, LEV has unique antiepileptic mechanism, good efficacy and tolerance, and its target is synaptic vesicle protein 2A. With the widespread use of LEV, more and more adverse reactions have been reported, especially mental related adverse reactions. This paper reviewed the research progress of LEV pharmacogenomics related targets, metabolism, adverse reaction related genetic variation and efficacy prediction, so as to provide decision-making for the application of LEV individualized treatment in clinical practice, improve the quality of life of epileptic patients and reduce the disease burden of patients with epilepsy.