Objective:To investigate association of the new polymorphism G352A in the dopaminetransporter gene(DAT1)exon 15 with attention deficit hyperactivity disorder(ADHD)in Han Chinesechildren.Methods:The new mutant polymorphism G352A in the dopamine transporter gene(DAT1)ex-on 15 was found by the fluorescently-labeled dye-terminators assay.The study samples were comprised of337 ADHD children,207 unrelated controls and 201 integrated ADHD trios(included proband and bio-logical parents).Associations of polymorphisms with ADHD and its subtypes were examined by:(i)comparing cases and controls;and(ii)using family-based association study in transmission-disequilibri-um test(TDT).Results:The allele frequencies at the DAT1 G352A locus in the control samples were79.5% for 352G and 20.5% for 352A respectively.Association studies revealed no association betweenG352A in exon 15 of DAT1 and ADHD.But after a stratification by gender,there was possible associationbetween G352A and ADHD girls:the 352G allele had a tendency to be preferentially transmitted toADHD girls.Conclusion:There is no association between G352A,the new polymorphism,in exon 15 ofDAT1 and ADHD.The 352G allele has a tendency to be preferentially transmitted to ADHD girls,but thefindings require replication before drawing a definitive conclusion.

OBJECTIVEDisruptive behavior disorder (DBD) is one of the main comorbidity of attention deficit hyperactivity disorder (ADHD). Previous studies showed significantly different serotonin function between ADHD children with and without the comorbidity of DBD. Therefore, it is needed to compare these two groups in terms of serotonin receptor gene polymorphisms, which may provide further evidence for the previous studies. The current study aimed to investigate the relationship between two serotonin receptor 2C (HTR2C) gene polymorphisms, that are C-759T and G-697C polymorphisms, and ADHD with or without concomitant DBD.

METHODBlood samples were taken from 237 trios with probands of ADHD with DBD comorbidity and 251 trios with probands of ADHD without comorbidity of DBD. All the subjects were from the ADHD clinic of Peking University Sixth Hospital. DNA was extracted and PCR was performed to amplify the fragments containing both C-759T and G-697C polymorphisms. AciI was used to detect different alleles of the two polymorphisms. Both allele-based and haplotype-based TDT analyses were used to test the association of the two polymorphisms of HTR2C gene and ADHD with or without comorbidity of DBD.

RESULTSThe haplotypes -759C (chi(2) = 4.25, P = 0.04), -697G(chi(2) = 3.21, P = 0.07), as well as -759C/-697G were over-transmitted (chi(2) = 4.31, P = 0.04) to the probands of ADHD without DBD. No biased transmission of any allele and haplotype were found in families with probands of ADHD with DBD.

CONCLUSIONADHD with or without the comorbidity DBD was different at the level of HTR2C gene polymorphisms of C-759T and G-697C. HTR2C is related to ADHD without DBD, while not related to ADHD with DBD. The results suggested that the two groups may have different genetic background, at least in HTR2C.

Alleles ; Attention Deficit Disorder with Hyperactivity ; complications ; genetics ; Attention Deficit and Disruptive Behavior Disorders ; complications ; genetics ; Child ; Comorbidity ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Polymorphism, Genetic ; Receptor, Serotonin, 5-HT2C ; genetics ; Receptors, Serotonin ; Serotonin ; genetics

OBJECTIVETo provide more information for rational evaluation of potential risks of terephthalic acid (TPA), we studied the effects of TPA on rats' bladders in 90 days after TPA exposure.

METHODSSprague Dawley rats were subdivided into five groups, ingesting 0%, 0.04%, 0.2%, 1%, and 5% TPA respectively for a sub-chronic feeding study lasting for 90 days. Urine, serum and samples of brain, liver, lung, kidney, bladder, etc. were collected and analyzed.

RESULTSTPA ingesting decreased the value of urinary pH, and increased the contents of Ca2+, Zn2+, Mg2+, Na+, K+ in urine. The volume of 24 h urine was significantly increased in male rats in the 1% and 5% TPA groups. Urinary white sediment was found in both sexes, and its formation in male rats seemed more susceptible than that in female rats. Alpha 2u-globulin (AUG) in serum and urine of male rats was markedly increased in a dose-dependent manner. Fifteen cases of hyperplasia (simple or atypical) were determined in the 5% TPA ingesting group, 14/52 in male rats and 1/23 in female rats. Among them 3 male rats had no stone or calculus. Those with either bladder stones or hyperplasia were accompanied with urinary white sediments.

CONCLUSIONWhite sediment accompanied with elevated urine AUG is the basis of TPA induced urolith formation, and is also associated with TPA induced bladder epithelial cell proliferation. It can act as an early biomarker for the potential toxic effect of TPA.

Alpha-Globulins ; urine ; Animals ; Biomarkers ; urine ; Female ; Hyperplasia ; chemically induced ; Male ; Phthalic Acids ; toxicity ; Rats ; Rats, Sprague-Dawley ; Urinary Bladder ; drug effects ; pathology ; Urinary Bladder Calculi ; chemically induced

BACKGROUNDMutations of the LMNA gene encoding lamin A and C are associated with dilated cardiomyopathy (DCM), conduction system defects and skeletal muscle dystrophy. Here we report a family with a mutation of the LMNA gene to identify the relationship between genotype and phenotype.

METHODSAll 30 members of the family underwent clinical and genetic evaluation. A mutation analysis of the LMNA gene was performed. All of the 12 exons of LMNA gene were extended with polymerase chain reaction (PCR) and the PCR products were screened for gene mutation by direct sequencing.

RESULTSTen members of the family had limb-girdle muscular dystrophy (LGMD) and 6 are still alive. Two patients suffered from DCM. Cardiac arrhythmias included atrioventricular block and atrial fibrillation; sudden death occurred in 2 patients. The pattern of inheritance was autosomal dominant. Mutation c.73C > G (R25G) in exon 1 encoding the globular domains was confirmed in all of the affected members, resulting in the conversion of arginine (Arg) to glycine (Gly).

CONCLUSIONSThe mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene.

Adult ; Cardiomyopathy, Dilated ; genetics ; Exons ; Humans ; Lamin Type A ; genetics ; Muscular Dystrophies, Limb-Girdle ; genetics ; Mutation

BACKGROUNDThe conventional venous access for cardiovascular implantable electronic device (CIED) is the subclavian vein, which is often accompanied by high complication rate. The aim of this study was to assess the efficacy and safety of optimized axillary vein technique.

METHODSA total of 247 patients undergoing CIED implantation were included and assigned to the axillary vein group or the subclavian vein group randomly. Success rate of puncture and complications in the perioperative period and follow-ups were recorded.

RESULTSThe overall success rate (95.7% vs. 96.0%) and one-time success rate (68.4% vs. 66.1%) of punctures were similar between the two groups. In the subclavian vein group, pneumothorax occurred in three patients. The subclavian gaps of three patients were too tight to allow operation of the electrode lead. In contrast, there were no puncture-associated complications in the axillary vein group. In the patient follow-ups, two patients in the subclavian vein group had subclavian crush syndrome and both of them received lead replacement. The incidence of complications during the perioperative period and follow-ups of the axillary vein group and the subclavian vein group was 1.6% (2/125) and 8.2% (10/122), respectively (χ2 = 5.813, P = 0.016).

CONCLUSIONOptimized axillary vein technique may be superior to the conventional subclavian vein technique for CIED lead placement.

TRIAL REGISTRATIONwww.clinicaltrials.gov, NCT02358551; https://clinicaltrials.gov/ct2/show/NCT02358551?term=NCT02358551& rank=1.

Aged ; Axillary Vein ; Defibrillators, Implantable ; adverse effects ; Electrodes, Implanted ; adverse effects ; Female ; Humans ; Male ; Middle Aged ; Pacemaker, Artificial ; adverse effects ; Perioperative Care ; Pneumothorax ; diagnosis ; etiology ; Postoperative Complications ; Prosthesis Implantation ; adverse effects ; Subclavian Vein