0.05) , while at the 4th week significantly increased (P

Objective To study the effects of γ-aminobutyric acid (GABA) and sertraline on the cognition functions in acute stressed rats.Methods Y-type maze were used to test the cognitive function of Male SD (Sprague-Dawley) rats.They were exposed to the forced-swimming stress test,which was to make acute stress model of depression.Except control group,rats were pretreated with different doses of GABA and/or sertraline,then the time of immobility in the forced-swimming test and latency in the maze were observed individual.Results Compared with the model group[(1404.33±129.46)s] ,GABA could decrease the immobility time obviously in the forced-swimming test [(432.33±187.64) s ＞ (332.50±217.23) s,P ＜ 0.01].Otherwise the immobility time was prolonged with 0.50 g/kg GABA + 10 mg/kg sertraline (1086.17±411.80) s (P ＜ 0.05).Compared with the control group(105.00±32.18)s,the latency in the maze was prolonged remarkably in the model group (179.17±8.54) s(P＜ 0.05).Pretreatment with 10 mg/kg sertraline(100.30±21.01) s or GABA and sertraline groups (69.83±16.89) s,(86.83±13.11) s (P ＜ 0.05 or 0.01) could decrease the latency.Conclusion GABA could play its role of antagonizing acute depression.Meanwhile,pretreatment with appropriate doses of GABA and sertraline not ordy could decrease doses of two drugs but also improve the cognitive function in the acute stress rats.

Objective To study the characteristics of craniocerebral injury caused by the handgun bullet impacting on the bulletproof helmet.Methods Fourteen healthy landrace pigs were involved and randomly divided into injury group(n =9)and control group(n =5).The landrace pigs of the injury group were shot vertically on the head under the protection of helmet plate with 9 mm handgun bullet at velocity of 360 m/s.While the landrace pigs of the control group were dealt with the same process as the injury group except for use of unarmed handgun bullet of the same ammunition dose.The changes of vital sign in the early period and the retina injury at two hours after injury were observed.Porcine cerebrospinal fluid (CSF)at pre-injury and at three hours post-injury were obtained for investigating the levels of neuron specific enolase(NSE)andαⅡ-spectrin protein.Then,the landrace pigs were sacrificed and dissected to examine the general morphological changes of the brain.The brain cortex was taken,fixed and stained with hematoxylin-eosin for microscopic observation.Results The landrace pigs in the injury group manifested decrease of the blood pressure and increase of the heart rate and respiratory rate in the early stage after injury.General morphological observation found retinal hemorrhage(3/9),skull fracture(3/9)and brain surface damage including local impact lesion(9/9)and contrecoup lesion(9/9),with severe impact lesion than contrecoup lesion.Optical microscopic observation revealed acute injury of the cerebral cortex neuron both on the impact and contrecoup locations.The concentrations of NSE and αⅡ-spectrinwere significantly increased in CSF three hours after injury(P ＜ 0.05).Conclusions The handgun bullet impacts on the pig head protected by the bulletproof helmet may induce blunt craniocerebral injury in the early period,with severe impact lesion than contrecoup lesion.Therefore,traumatic brain injury of the soldiers armed with the helmets should be stressed and managed early.

INTRODUCTIONRetinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identify the disease-causing mutation, and then to describe the phenotypic presentation of this family.

MATERIALS AND METHODSOphthalmic examination was performed on 46 family members to identify affected individuals and to characterise the disease phenotype. Family pedigree was obtained. Some family members also had fundus photographs, fluorescein angiography, and/or optical coherence tomography (OCT) analysis performed. Genetic linkage was performed using short tandem repeat (STR) polymorphic markers encompassing the known loci for autosomal dominant RP. Finally, DNA sequencing was performed to identify the mutation present in this family.

RESULTSClinical features included nyctalopia, constriction of visual fields and eventual loss of central vision. Sequence analysis revealed a G-to-T nucleotide change in the Rhodopsin gene, predicting a Gly-51-Val substitution.

CONCLUSIONSThis large multi-generation family demonstrates the phenotypic variability of a previously identified autosomal dominant mutation of the Rhodopsin gene.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Genes, Dominant ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Retinitis Pigmentosa ; genetics ; Rhodopsin ; genetics

Objective To explore the rare nonsynonymous variants of ABCA1 gene in primary open angle glaucoma (POAG).Methods A prospective cohort study was carried out.Three hundred and ninety-eight POAG patients and 198 healthy controls matched in age and gender were recruited from March 2017 to March 2018 in Eye and Ear Nose Throat (ENT) Hospital of Fudan University.The periphery blood of 2-5 ml from all the subjects was collected for extraction of DNA,and rare variant analysis of the ABCA1 gene was conducted by whole exome sequencing (WES) data of these subjects.The study protocol was approved by Ethic Committee of Eye and Ear Nose Throat Hospital of Fudan University and Sichuan Provincial People's Hospital (No.2016-32-1,and written informed consent was obtained from each subject prior to entering the study cohort.Results A total of 21 rare nonsynonymous variants (minor allele frequency MAF＜0.O1) were detected in the coding regions of ABCA1 gene in 27 subjects of the 398 POAG,with the detection rate of 6.8％.Among them,c.4310C＞A (p.Thr1437Asn),c.3772G＞T(p.Asp1258Tyr),c.775A＞G (p.Lys259Glu) and c.1507_1508insGAGGT (p.Glu503GlyfsX7) were four novel variants.In the 198 healthy controls,five rare nonsynonymous variants were detected in the ABCA1 gene from five subjects respectively,with the detection rate of 2.5％,the detection rate of nonsynonymous in POAG group was higher than that in healthy control group,showing a significant difference (x2=4.72,P =0.03,OR =2.81).Conclusions Rare nonsynonymous variants in ABCA1 is associated with the pathogenesis of POAG.These variants can enrich the variation spectrum of ABCA1.

Objective To investigate the therapeutic effect of modified dorsal metacarpal artery island flap of index finger without skin graft in repairing different types of soft tissue defect of thumb tip.Methods From August,2015 to October,2017,25 patients with soft tissue defect of the thumb tip were included in the study.Sixteen cases were males and 9 cases were females.Seventeen defects were in thumb dorsal and 8 cases were in thumb pulp.A modified dorsal island flap of index finger was used and the dorsal metacarpal superficial vein fascial flap could be harvest and combined to repair the thumb pulp defect if necessary.A relaying perforator flap pedicled on the second dorsal metacarpal artery was raised through the same incision to cover the donor site without skin graft.Followed-up was made by clinic,telephone and WeChat.Results The patients were followed-up for 6 to 18 months.All flaps survived completely without complications.The color,texture and contour of the flaps was good.Only 1 linear scar was left in the dorsum of the hand and no skin grafts.The second dorsal metacarpal artery flap was used to cover the donor site.Twenty-one cases (84％) were satisfied with the postoperative appearance of the thumb.The function was assessed as excellent in 16 fingers,good in 6 fingers and fair in 3 fingers.No complication occurred in the donor site.Conclusion It is possible to use the modified dorsal island flap of index finger to repair different types of thumb tip defects.A second dorsal metacarpal artery flap can be used as a relaying flap to cover the donor site without skin grafts.

Objective To study the extracranial scalp electroencephalography ( EEG ) and intracranial electrocorticography (ECoG) of closed colony New Zealand white rabbits .Methods To record the extracranial scalp EEG and intracranial ECoG of closed colony New Zealand white rabbits , and to compare and analyze the results of those two scanning methods .Results EEG was characteristic of 9-12 c/sαwave and 16-20 c/sβwave with an amplitude of 30-100μV as the basic rhythm .ECoG showed 10-12 c/s αwave and 16-20 c/s βwave with an amplitude of 200-300 μV as the basic rhythm.Anesthesia could attenuate the electrocerebral activity , cause brain tissue hypoxia , and induce δ wave and slow θ wave in ECoG .Conclusions EEG method is a simple , non-invasive and convenient operation , and can be made in rabbits without anesthesia .The recorded EEG waveform is highly consistent with that of ECoG , and may be used as an alternative to the traditional ECoG in neurofunctional studies .

Objective:To investigate the association between choroidal neovascularization (CNV) and the LIPC gene single nucleotide polymorphism (SNP) in a Chinese Han population from Shantou. Methods:A case-control study was designed.Two hundred and twenty-one patients with CNV who visited Shantou International Eye Center from January 2010 to December 2016 were enrolled and served as the CNV group, and 430 healthy volunteers matched in age and gender were enrolled and served as the normal control group.Each of 5 ml fasting peripheral blood of the subjects was extracted, and peripheral blood DNA was extracted after anticoagulation.PCR amplification was conducted on SNP loci of LIPC gene including rs10468017, rs920915 and rs2070895.After purification, genotyping was performed on the above SNP loci using the single base extension (SNaPshot) method.Hardy-weinberg equilibrium (HWE) test was used to determine the genotype frequency of the three SNPs of LIPC gene.The gene frequency and genotype frequency of the 3 loci between the CNV group and normal control group were compared.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort.The study protocol was approved by the Ethics Committee of Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong (No.11-004). Results:The genotype frequency distribution of rs10468017, rs920915 and rs2070895 of the three SNPs of LIPC gene reached genetic balance in the total samples ( P>0.05). The genotype frequencies of rs10468017 TT genotype, rs920915 CC genotype and rs2070895 AA genotype in CNV group were 3.62%, 5.43% and 12.22%, respectively, while those of normal control group were 2.56%, 5.58% and 14.19%, respectively, with no statistically significant difference (all at P>0.05). The minimum allele (T) frequency of rs10468017 was 18.1% and 17.2%, the minimum allele (C) frequency of rs920915 was 21.7% and 23.1%, and the minimum allele (A) frequency of rs2070895 was 33.7% and 38.7% in the CNV group and the normal control group, respectively (all at P>0.05). The odd ratio ( OR) values (95%confidence interval [ CI]) of rs10468017, rs920915 and rs2070895 in the CNV group and the normal control group were 1.06 (0.79-1.44), 0.92 (0.70-1.21) and 0.80 (0.63-1.02), respectively. Conclusions:The results from the present study do not indicate the association of LIPC SNPs (rsl0468017, rs920915 and rs2070895) with CNV in the Shantou Han population.

Objective:To investigate the therapeutic effect of modified sural neuro-fasciocutaneous perforator flap in reconstruction of foot and ankle soft tissue defects.Methods:Sixteen patients undergoing the modified flap for foot and ankle reconstruction were included in this study between June, 2016 and June, 2018. The 16 patients were 11 males and 5 females with an average age of 32.5 (range 21 to 51) years. Ten defects were in heel and 6 in ankle and dorsal side of foot. A "Z" -shape skin incision was performed to explore the perforator vessels. A peroneal-based perforator, a superficial vein, and the vascular axis of the sural nerve were included in the pedicle. A relaying island perforator flap was used to close the donor site without skin graft. Follow-up was carried out through outpatient service, telephone follow-up and Wechat photo transmission.Results:The patients were followed-up for 12 to 18 months. All flaps survived completely without complications. The colour, texture and apperance of the flaps were good. The area of the flaps ranged from 12 cm×5 cm to 30 cm×15 cm. The diameter of the pedicle ranged from 1 to 2 cm. No complication occurred in the donor sites. A relaying perforator island flaps were used in 10 cases for donor site closure and without a skin graft. All cases were satisfied with appearance and function at the final followed-up.Conclusion:It is possible to use the modified sural neuro-fasciocutaneous perforator flap to repair foot and ankle soft tissue defects. A relaying island perforator flap can be used as a relaying flap to cover the donor site without skin graft.

Objective:To detect whether Toll-like receptor 4 ( TLR4) polymorphisms contributed to primary open angle glaucoma (POAG) in a Chinese population. Methods:A Chinese cohort, including 799 unrelated POAG patients and 799 unrelated controls, was enrolled in our case-control association study. The data was collected at Sichuan Provincial People's Hospital from May 2014 to March 2018. TLR4 functional single nucleotide polymorphisms (SNPs), including rs4986790 and rs4986791, were genotyped by SNaPshot method. Genotype and allele frequencies of the two SNPs were evaluated. This study was approved by the Institutional Review Boards of the Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (No.2016-58), and complied with the guidelines of the Declaration of Helsinki. Written informed consents were obtained from all subjects prior to the study. Results:Allelic association analysis revealed that there were no significant association detected in the allelic distributions between the POAG cases and controls for SNPs rs4986790 ( P=0.317) and rs4986791 ( OR=1.000, 95% CI =0.062 5-16.002 2, P=1.000) in the TLR4 gene. Conditional analysis of the two SNPs did not show any significant difference in genotype and allele frequency between the case and the control groups. No association of the two SNPs with POAG was detected under four different genetic models, including homozygote, heterozygote, dominant and recessive models. Conclusions:Polymorphisms rs4986790 and rs4986791 in the TLR4 gene are not related to POAG in the Chinese cohort.