Protective effect of fibroblast growth factor 21 on ischemic stroke / 国际脑血管病杂志

As a multifunctional signal molecule, fibroblast growth factor 21 (FGF21) has been proved to have a variety of biological effects, including anti-inflammatory, antioxidant stress, and neuroprotection. This article reviews the latest research progress on the protective effect of FGF21 in ischemic stroke and its relationship with cognitive impairment.

Clinical features and gene mutation analysis of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene / 中华神经科杂志

Objective:To investigate the clinical phenotype and genotype of a male case of subcortical band heterotopia caused by mosaic mutation of DCX gene.Methods:The clinical data and magnetic resonance imaging (MRI) features of a male case of subcortical band heterotopia diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in August 2020 were analyzed retrospectively. At the same time, the whole exon sequencing of the families was performed by next generation sequencing method, the suspicious mutation was verified by polymerase chain reaction Sanger sequencing, and their genetic mutation characteristics were analyzed.Results:The proband, one male, aged 5 years and 1 month, was hospitalized in August 2020 with the complaint of intermittent convulsions for 4 years and six months. Clinical features included that limb muscle tension was slightly high, intellectual and motor development was backward, and head circumference was 48 cm. MRI of his head showed diffuse thick subcortical band heterotopia. The detection of whole exon sequencing in his family showed that there was hemizygous mosaic mutation in DCX gene (mosaic ratio 44%), c.148A>G (p.k50E). The mosaic ratios of oral mucosa and urinalysis were 38.2% and 44.8% respectively. His parents were wild-type, The mutation found in this patient has not been reported at home and abroad.Conclusions:The mosaic variation of DCX gene can cause subcortical band heterotopia in males. The variation of DCX gene c.148A>G (p.k50E) may be the possible cause of the proband, which expands the variation spectrum of subcortical band heterotopia.

Clinical analysis of 10 cases of congenital triangular alopecia / 中华皮肤科杂志

Objective:To investigate clinical features of congenital triangular alopecia.Methods:Clinical data were collected from 10 children with congenital triangular alopecia, who were diagnosed and treated in Xiamen Children′s Hospital from August 2020 to June 2021, and their clinical and dermoscopic features were analyzed.Results:All the 10 patients were males, aged from 2 months to 6 years and 4 months. Hair loss occurred at birth or within 1 month after birth in 6 children, and occurred between the age of 4 months and 6 years in 4. The alopecic area was located in the left frontotemporal region in 5 patients, in the right frontotemporal region in 3, and in the vertex region in 2. In all the patients, thin vellus hair could be seen in the alopecic areas, and the hair pull test was negative, while in 1 patient showed some normal terminal hair scattered in the alopecic area. Dermoscopy showed a lot of vellus hair surrounded by normal terminal hair in the alopecic area with a clear boundary, and no yellow or black dots, or 'exclamation mark’ hair was observed. Seven patients had visited department of dermatology due to hair loss, of whom 5 were diagnosed with alopecia areata, and 2 with sebaceous nevus.Conclusions:Congenital triangular alopecia is common in children, and mostly occurs in the left frontotemporal region. It is characterized by the replacement of normal terminal hair by thin vellus hair in the alopecic area. Dermoscopy is helpful in its diagnosis and differential diagnosis.

Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion / 中华医学遗传学杂志

OBJECTIVE@#To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.@*METHODS@#The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology.@*RESULTS@#The proband, a 7-year-and-8-month-old boy, presented with thin curly hair, thin and sparse eyebrow, xerosis cutis, susceptibility to hyperthermia from childhood, hypohidrosis, sharp/sparse/absent teeth, saddle nose, prominent forehead, auricle adulation and seizure. He was found to have a normal chromosomal karyotype, and no abnormality was found by Trio-WES. Genome-wide CNV-seq revealed a 341.90 kb deletion at Xq13.1q13.1 (chrX: 68 796 566-69 138 468). As verified by PCR-electrophoresis, the deletion has removed part of the EDA gene. The deletion was derived from his mother with normal hair, mild xerosis cutis, and sparse, decidulated and nail-like teeth. The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1 (chrX: 68 836 154-69 078 250).@*CONCLUSION@#Both the proband and his mother have carried a Xq13.1 microdeletion involving part of the EDA gene. The clinical phenotypes of the mother and the proband were consistent with the clinical characteristics of X-linked recessive HED, for which partial deletion of the EDA gene is probably accountable.

Acute necrotizing encephalopathy in a child caused by human herpesvirus-6 infection / 中华神经科杂志

Objective:To analyze the clinical and imaging characteristics of acute necrotic encephalopathy (ANE) in a child with human herpesvirus-6 (HHV-6) infection.Methods:Retrospective analysis was performed on the clinical data and imaging features of a case of HHV-6 related ANE from Children′s Hospital Affiliated to Zhengzhou University in March 2019.Results:The one year and seven month-old child had acute encephalopathy, recurrent convulsions, consciousness disorders, elevated serum transaminase. The number of cerebrospinal fluid (CSF) cells was normal and the protein increased. High throughput gene testing of CSF showed HHV-6. Cranial magnetic resonance imaging showed multiple symmetry damage in the bilateral thalamus, brainstem, and cerebellum. The symptoms improved after the treatment of glucocorticoids, intravenous immunoglobulin, and plasmapheresis.Conclusions:ANE is a rare severe encephalopathy, the characteristic imaging change of which is symmetry multifocal cerebral damage, especially in the bilateral thalamus. ANE should be considered for patients with frequent convulsions and disturbance of consciousness after virus infection.

Clinical characteristics and genetic analysis of early epileptic encephalopathy caused by YWHAG gene mutation / 中华神经科杂志

Objective:To report a rare case of early onset epileptic encephalopathy caused by YWHAG gene mutation, and discuss the clinical and genetic characteristics as well as the diagnosis, treatment and prognosis of the disease.Methods:Clinical data of the patient with YWHAG gene deficiency from Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were collected in January 2018. The whole exome sequencing was performed on the core members of the family, and the characteristics of gene mutations were analyzed.Results:The proband is a girl, three years and 10 months old, presented to the outpatient department of neurology with a history of six-month intermittent convulsions, manifested as epilepsy seizures, mental retardation, motor delay and gait instability, ataxia. The brain magnetic resonance imaging showed myelinated dysplasia, and long-term video electroencephalogram (EEG) showed extensive 1.5-3.0 Hz slow spikes, and multiple spikes during sleep. During the monitoring, the children had clinical seizures and abnormal EEG discharges, indicating that myoclonus was accompanied by atypical absence of consciousness. Whole exome sequencing on the proband detected a de novo mutation c.169C>T (p.Arg57Cys) in YWHAG gene. According to American College of Medical Genetics guidelines (2015), the mutation was considered potentially pathogenic.Conclusion:Early epileptic encephalopathy caused by YWHAG gene mutation is very rare, and the variation of YWHAG gene c.169C>T is the possible pathogenic variation of the genetic cause of early onset epileptic encephalopathy in the proband.

Apoptosis-inducing activity of synthetic hydrocarbon-stapled peptides in H358 cancer cells expressing KRAS

Lung cancers are the leading cause of cancer deaths worldwide and pose a grave threat to human life and health. Non-small cell lung cancer (NSCLC) is the most frequent malignancy occupying 80% of all lung cancer subtypes. Except for other mutations (

Clinical phenotype and genetic analysis of neurofibromatosis type 1 caused by neurofibromatosis type 1 gene mutation / 中华神经科杂志

Objective:To investigate the clinical phenotype and summarize the genetic characteristics of children with neurofibromatosis type 1 (NF1) diagnosed by next-generation sequencing.Methods:The clinical data of 12 children with NF1 who were admitted to the Department of Neurology of the Children's Hospital Affiliated to Zhengzhou University from December 2017 to October 2019 were retrospectively analyzed. The next-generation sequencing method was used to sequence the NF1 gene of the probands and the mutations were verified by PCR-Sanger sequencing.Results:Among the 12 children diagnosed with NF1 (male: female=11: 1), who aged from seven months to 11 years old, the main complaints were seizures and skin with café-au-lait spots. Five children were found with freckles in axillae, and two with cutaneous neurofibroma. Six cases had seizures, two children suffered spastic seizures, two with generalized tonic-clonic seizures, one with typical absence seizure, one with focal seizure, one case had severe headache and vomiting. Fortunately for the children with seizures, anti-epileptic drugs had a good prognosis. There were five mutation types detected in 12 cases, including one case of loss of overall heterozygosity in NF1 gene; three missense mutations: c.7867C>A (p.L2623I), c.7855C>A (p.L2619I) and c.7792C>A(p.L2598I); three frameshift mutations: c.3162delC(p.N1054Nfs *8), c.540dupA (p.Q181Tfs *20) and c.2027dupA(p.V679Pfs *21); three nonsense mutations: c.1467T>A(p.Y489X, 2351), c.1318C>T(p.R440X, 2400) and c.1411C>T(p.K471X, 2369); two splicing mutations: c.2326-2(IVS10)G>C and c.1186-1(IVS10)G>C. Nine children were found with spontaneous mutations, one case was inherited from the father, and two cases were inherited from the mother. c.7867C>A(p.L2623I), c.7855C>A(p.L2619I), c.3162delC(p.N1054Nfs *8), c.1411C>T(p.K471X, 2369), c.2326-2(IVS10)G>C, c.1186-1(IVS10)G>C were unreported mutations in literature. Conclusions:NF1 is caused by NF1 gene mutation. The early clinical manifestations of children with NF1 defect presented with café-au-lait spots, and some suffered seizures. For patients with multiple café-au-lait spots and seizures in the clinic, genetic analysis should be performed as soon as possible to confirm the diagnosis.

Analysis of the clinical phenotype and tripeptidyl peptidase-1 gene mutation in a family with type 2 neuronal ceroid lipofuscinosis / 中华神经科杂志

Objective:To summarize the clinical phenotype and tripeptidyl peptidase-1 (TPP1) gene mutation characteristics in a family with type 2 neuronal ceroid lipofuscinosis (CLN2) confirmed by second generation sequencing. Methods:The clinical data of a family with CLN2 from the Department of Neurology of the Children′s Hospital Affiliated to Zhengzhou University in June 2018 were collected. The proband was confirmed by using the whole-exome sequencing and the Sanger test of the first generation was used in the family members, and the mutation characteristics of TPP1 gene were analyzed, and the clinical features were summarized.Results:The proband is a three-year- and nine-month-old girl, presented with generalized tonic-clonic seizures, normal mental function, mild backward development of language and movement. The ophthalmic examination showed binocular ametropia, normal visual acuity, and no macular degeneration. Cranial magnetic resonance imaging (MRI) showed widening of the subarachnoid space in the frontotemporal region, deepening of the sulci, and cerebellar atrophy. There were two heterozygous mutations in the TPP1 gene, from her parents with normal phenotypes respectively. The c. 1449-1450insG (p.I484Dfs*7) mutation comes from her father, which is an unreported heterozygous mutation of code-shifting, whereas the c.1417G>A(p.G473R) mutation comes from her mother, which is a known missense mutation, consistent with the characteristic of CLN2 complex heterozygous mutation. The proband′s elder brother, whose first symptom was myoclonic seizure at the age of three, and now he is seven years old with progressive visual impairment and regression of intellectual, motor and cognitive functions. The ophthalmic examination showed retinal degeneration, and the cranial MRI showed whole-brain atrophy with obvious cerebellar atrophy. The pathogenic gene of TPP1 and the complex heterozygous mutation site were consistent with the proband. Now the proband′s younger brother is 2-year- and 10-month-old, whose phenotype is normal, with a single heterozygous mutation of c.1417G>A (p.G473R), which comes from their mother, and the parents of the proband have no clinical phenotype. Conclusions:CLN2 is a rare lysosomal storage disorder that is characterized by seizures, progressive mental and motor deterioration, loss of vision and brain atrophy on MRI, binocular macular degeneration. TPP1 complex heterozygous mutation c. 1449-1450insG(p.I484Dfs*7) and c.1417G>A(p.G473R) is the genetic cause of this case.

MFSD8 gene mutation and clinical characteristics of a family with neuronal ceroid lipofuscinosis type 7 / 中华神经科杂志

Objective:To investigate the clinical characteristics and mutation of MFSD8 gene in a family with neuronal ceroid lipofuscinosis type7 (CLN7).Methods:The clinical data of a CLN7 patient and her family from the Children′s Hospital Affiliated to Zhengzhou University in January 2018 were reviewed and analyzed. Whole exome sequencing of second-generation sequencing was used to analyze gene mutation results.Results:The proband, a five years and nine months old girl, admitted to the Children′s Hospital Affiliated to Zhengzhou University with the chief complaint of "intermittent seizures for seven months". She had the first seizure at the age of five years and two months, and different types of generalized tonic-clonic and atypical absence seizures were found. At the age of five years and nine months, she was admitted to the hospital with mild mental deterioration. She had normal motor and physical development. Ophthalmological evaluation revealed macular degeneration. The video electroencephalography revealed multifocal spikes or spike-and-wave, prominent in the anterior fronto-temporal regions. Magnetic resonance imaging (MRI) revealed cerebellar atrophy. Compound heterozygous mutations c.553 (exon 6) G>A and c.1391 (exon 13) C>T were found on her MFSD8 gene, supporting the diagnosis of CLN7. Each of her parent carried one of the mutations, and c.553 (exon 6) G>A was a new mutation. Her elder brother had the first seizure at the age of 6 years, with motor and mental deterioration as well as visual impairment. MRI revealed generalized cerebral atrophy. He had the same compound heterozygous mutations with his sister. No pathogenic mutation was found in her younger brother.Conclusions:CLN7 is a rare neurodegenerative disease, the main clinical features of which are epileptic seizures, progressive motor intelligence regression, visual loss, cranial MRI suggesting brain atrophy, and binocular macular degeneration. MFSD8 gene heterozygous mutations c.553G>A (p.V185I) and c.1391C>T (p.A464V) are the genetic etiology of this proband.

Application and effect evaluation of logistics robots in hospital pharmacy intravenous distribution / 中华医院管理杂志

Taking the application of logistics robots in intravenous drug distribution at our hospital as an example, this paper discussed the application effect of hospital logistics robots in actual operation, and discussed how to use data analysis to carry out a comprehensive scientific evaluation of the work effect of hospital logistics robots. The results showed that the hospital logistics robots can take charge of the daily heavy workload by using of unmanned technology. And at the same time, the transportation of medical materials by such means ensures the safety of transportation. It can also realize the whole process monitoring and closed-looping of transportation information. Analysis of operational data proves that the use of hospital logistics robots conforms to the expectation of higher quality requirements in hospital logistics, thus strengthening and improving the level of modern management of hospital logistics.

Correlation between late-onset sporadic Parkinson's disease and single nucleotide polymorphism of Atg7 rs2606757 / 中华老年医学杂志

Objective To investigate the correlation between late-onset sporadic parkinson's disease(PD) and single nucleotide polymorphism (SNP) of autophagy-related genes 7 (Atg7) rs2606757 (6+1196A/T)in Han Chinese population.Methods Totally 124 patients with late-onset sporadic PD(the PD group)and 105 age-and sex-matched healthy individuals(the control group)were enrolled in this study.The SNP of Atg7 rs2606757 was detected by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).After gene sequencing for the detection of allele and genotype frequencies distribution and testing Hardy-Weinberg equilibrium,the differences in Atg7 rs2606757 genotype and allele frequency were compared between PD group and control group and between males and females.Results The frequency of AA genotype was statistically significantly lower in the PD group[34.7％(43/124)]than in the control group[53.3 ％ (56/105)](x2 =8.063,P=0.005,OR =0.465,95％ CI:0.273-0.791).In men's PD group versus men's control group,AA genotype of the Atg7 rs2606757 showed a lower frequency for late-onset sporadic PD[33.3 ％ (23/69)vs.53.2 ％ (33/62),x2 =5.280,P =0.022,OR =0.439,95 ％ CI:0.217-0.891].Logistic regression analysis indicated that the AA genotype frequency distribution of Atg7 rs2606757 showed a significant difference between PD and control groups (OR =2.210,95％ CI:1.289-3.789,P =0.004).Conclusions The higher frequence of AA genotype at Atg7 rs2606757 only in males might be associated with the decreased risk of late-onset sporadic PD.

Comprehensive evaluation of scientific research performance of an upper first-class Metarnal and Child Health Hospital in Guangxi by Close-value method / 中华医学科研管理杂志

Objective To evaluate the scientific research performance of a third-grade maternal and child health hospital in Guangxi from 2007 to 2016,and to understand the situation of scientific research in past 10 years,and provide decision-making basis for strengthening the scientific research management of hospitals.Methods According to the statistical reports of the hospital's scientific research data,7 indexes were used to evaluate the quality of the scientific research performance of the hospital,and the close value method was used to evaluate the quality of the scientific research during 2007-2016.Results According to the Close-value method analysis,the overall quality of the scientific research performance showed a upward trend in recent ten years;according to the ranked order of the Close-value,the research performance of the institute in 2016 was the smallest while the quality of scientific research was the best.In 2009,the Institute's scientific research performance was the closest,however,the scientific research performance was the worst.Conclusions The result of comprehensive evaluation of Close-value method is consistent with the actual situation of scientific research in this hospital.It has reference significance for the evaluation of hospital scientific research quality.

Investigation of family physicians′ needs for tertiary hospitals support in the hierarchical medical system / 中华医院管理杂志

Objective To learn the needs of family physicians for tertiary hospital support in the hierarchical medical system. Methods In July 2017 cluster sampling was made to 135 family physicians of Changning district of Shanghai for a " Family physicians needs questionnaire" . It covered such aspects as their demographic characteristics and their needs. The data so acquired were subject to descriptive and logical analysis. Results 99.3% of them need preferential appointment of specialists at tertiary hospitals;93.3% of them need preferential appointment of examinations; 82.2% of them need preferential outpatient visits; while 83.7% of them need preferential hospitalization and surgery scheduling. In terms of the approaches for preferential appointment of specialists, 84.4% of them prefer specialist appointment at short notice, and 73.3% of them need direct online appointment for large-scale device examinations at tertiary hospitals. In terms of mentoring scenarios, 62.2% of them prefer mentoring during outpatient rounds at fixed schedules of specialists in their community. Conclusions Tertiary hospitals are recommended to establish green pathways for referrals and priority measures in order to improve capabilities of family physicians and the shared platform in the hierarchical medical network. They are also expected to guide family physicians in their research paper writing, thus fully supporting the hierarchical medical system.

Current development of private hospitals in Guangxi under the background of China's ongoing healthcare reform:analysis and countermeasures / 中华医院管理杂志

Objective To analyze the status quo and countermeasures of the development of Guangxi's private hospitals during the ongoing healthcare reform. Methods With the background of the healthcare reform, the current situation of private hospitals was analyzed based on data changes of the development of such hospitals in Guangxi during the 2011 -2015 period, for the purpose of proposing measures such as multiple supervision mechanism. Results During this period,74 private hospitals were founded in Guangxi. They have added 7 395 hospitals beds, served 1.41 million outpatient/emergency visits, and 220. 9 thousand inpatients, with 5 939 employees hired in the meantime. Given these achievements,development of these hospitals tended to be imbalanced and poorly regulated.Conclusions The healthcare reform has encouraged private involvement in medical practice and the growth of private hospitals in the region. In view of the problems as mentioned above, multiple supervision appears an effective solution.

FGF-2 combined with TGF-β1 induces bone marrow mesenchyma stem cells differentiating into cardio-myocyte-like cells in vitro / 实用医学杂志

Objective To expore the effects of FGF-2 and TGF-β1 on the differentiation of rat bone mar-row mesenchymal stem cells(BMSCs)towards cardiocytes. Methods BMSCs were isolated from bones of SD rats and cultured and identified by flow cytometry.The cells were divided into four groups:group A(FGF-2),group B (TGF-β1),group C(FGF-2+TGF-β1)and group D(blank control).The morphological changes were observed by the microscope. The expressions of Desmin,α-sarcomeric actin and cTnI were detected by immunocytochemical stainning.The expressions of GATA-4 and Nkx2.5was detected by RT-qPCR.Result The positive expression rate of CD90,CD29 and CD45 was 84.7%,86.5%,0.3% respectively. After induction,group C presence of myotube structures and the shape is fusiform.The positive rate of combined induction group was higher than the others (P < 0.05). The expression of GATA-4 and Nkx2.5 genes was higher than that in the other groups(P < 0.05). Conclution FGF-2 and TGF-β1 can be used to induce BMSCs into cardiocytes,and the combined group has the better effect.

The analysis of correlation between single nucleotide polymorphism at Atg7 rs14016 and Parkinson's disease / 中华老年医学杂志

Objective To investigate the association between rs14016 (19 +31C/T) polymorphisms of autophagy-related genes 7 (Atg7) and Parkinson's disease (PD) in Han population in China.Methods Totally 123 patients with Parkinson's disease (PD) (case group) and 101 synchronized health controls (control group) were selected from Chinese Han population between January 2013 and July 2016.A single nucleotide polymorphism (SNP) of rs14016 of Atg7 gene was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.After gene sequencing for genotyping and detection of alleles,genotype and allele frequency distributions were analyzed in the two groups.Results The frequency distributions of TT genotype and T alleles were 17.9％ (22/123) and 41.1％ (101/246) in the case group,and 5.9％ (6/101) and 31.2 ％ (63/202) in the control group,respectively.The difference in genotype frequencies between the two groups was statistically significant (x2 =7.236,P =0.007,OR =3.01,95 ％ CI:1.27-7.14).The frequencies of T and C alleles were 41.1％ (101/246) and 58.9％ (145/246) respectively in the case group,and 31.2％ (63/202) and 68.8％ (139/202) in the control group (x2 =4.655,P=0.031,OR=1.32,95 ％CI:1.02-1.70),with the statistically significant difference in the allele.The TT genotype of rs14016 showed statistical significance between the two groups by logistic regression analysis (OR=3.40,95％CI:1.32-8.80,P=0.012).Conclusions The T allele and TT genotype at the rs14016 of Atg7 gene might be associated with PD,and might increase the risk for suffering from PD,which is worthy of further fully researches.

The mediating effects of rumination on the relationship between negative life events and depressive symptoms in treatment-naive depressed patients / 中华行为医学与脑科学杂志

Objective To explore the mediating effects of rumination and its subtypes on the relationship between negative life events and depressive symptoms in treatment-naive depressed patients.Methods Sixty-two treatment-naive depressed patients completed the center for epidemiologic studies depression scale (CESD),rumination response scale (RRS),and life event scale (LES).Results ① The scores of CESD were positively correlated with total score of RRS,brooding score of RRS,and negative LES score (NLES) in depressed patients (r=0.66,P＜ 0.01;r =0.50,P＜ 0.01;r =0.51,P＜ 0.01).The total score of RRS and brooding score of RRS were positively correlated with NLES(r=0.45,P＜0.01;r=0.47,P＜0.01).② The total score of RRS played a mediating role between NLES and CESD (indirect effect=0.12,95％ CI =0.04 ～ 0.23).③The brooding of RRS played a mediating role between NLES and CESD (indirect effect =0.07,95％ CI=0.02～0.15).Conclusion The RRS and the brooding of RRS exert mediation effects on the relationship between NLES and CESD in patients with depression.

Developmental rules of auditory event-related potentials of exogenous components:from children to adults / 第三军医大学学报

Objective To investigate the normal waveform,lantency and amplitude of auditory event-related potentials (ERPs) of exogenous components in children at different ages,and summarize the developmental rules and clinical perspectives of exogenous ERPs according to the International Federation of Clinical Neurophysiology (IFCN) Recommended Standards in 2009.Methods One hundred and thirty-six children aged from 3 to 17 years old (admitted in the departments from healthcare,orthopedics,general surgery,and respiratory and digestive diseases,and those recovered from respiratory infection and gastrointestinal infection),and healthy adults (from undergraduates of Chongqing medical university) were recruited in this study from 2008 to 2010.They were divided into 4 groups in accordance with their ages,that is,3 ～5,＞ 5 ～7,＞ 7 ～9,and ＞ 9 ～17 years old groups,and adult group (22 ～29 years old).ERPs were recorded from the midline site (Cz) with classical auditory Oddball paradigm.Each subject was tested twice or more to determine waveform repeatability.The overlapped graphs of ERPs under target and standard stimuli were obtained in the potentiometer.The exogenous ERPs,including P1,N1,P2 and N2,lantency and amplitude were measured.Results The latencies of exogenous ERPs under target and standard stimuli were shortened in a non-uniform manner with the increasing of age.No matter under target or standard stimuli,over 95％ of mean latencies of exogenous ERPs were within the range of 2SD.In addition to N1 component,the amplitude of P1,P2 and N2 components induced by target stimulus were in a trend of increased first and then decreased with the increasing of age.Compared with the children,the amplitude was much lower in the adults and adolescents (P ＜ 0.05).The N2 component induced by target stimulus was absent among 95％ healthy adults.The Standard deviations of amplitudes of exogenous components were great in all aged groups,indicating significant individual differences.Conclusion The latencies of exogenous ERPs are shortened with the increasing of age.Target stimulus will produce more stable results than the standard stimulus,and the ERPs under target stimulus can reflect the primary auditory cortex function of temporal lobe,and are independent on patients' cooperation.

Association between Ubiquitin-specific Proteases 24 Gene Polymorphisms and Sporadic Parkinson's Disease in the Han Guangdong Population / 中国康复理论与实践

Objective To explore the association of ubiquitin-specific proteases 24 (USP24) gene polymorphisms with susceptibility to sporadic Parkinson's disease (PD) in the Han Guangdong population. Methods From August, 2006 to January, 2014, single nucleotide poly-morphisms (SNPs) of rs12138592 and rs6671533 in the intron region of USP24 were genotyped in 200 patients with sporadic PD and 200 healthy controls using the SNaPshot technique. Results There was significant difference in the allele and genotype frequency of rs12138592 between the patients and the controls (P0.05). Conclusion The SNP of rs12138592 in the intron region of USP24 is associated with the susceptibility to sporadic PD in the Han Guangdong population, and the A allele may contribute a protective roles to PD.