BACKGROUND:The CD133 expression in non-smal cel lung cancer shows some changes, which is definitely related to the occurrence and development of diseases. OBJECTIVE:To investigate the expression of CD133 in non-smal cel lung cancer, and to analyze its relationship with clinical pathological factors and prognosis. METHODS:Non-smal cel lung cancer tissue specimens from 135 cases were col ected, and normal lung tissue specimens from 60 cases were set as normal control group. Immunohistochemical staining was used to detect CD133 expression in two groups, and the relationship between the expression of CD133 protein and the clinical pathological factors was analyzed. RESULTS AND CONCLUSION:(1) The positive expression of CD133 protein in the non-smal cel lung cancer group was significantly higher than that in the normal control group (P<0.05). (2) CD133 protein expression had no association with age, gender, tumor size, tumor location, histological type (P>0.05), and CD133 protein expression was significantly increased with the differentiation of non-smal cel lung cancer (P<0.05). The positive expression rate of CD133 protein was significantly different between different clinical stages and lymph node metastasis (P<0.05). (3) CD133 and TNM staging were independent prognostic factors for non-smal cel lung cancer (P<0.05), and the median survival time was significantly shorter in the positive group than in the negative group (P<0.05). The results indicate that CD133 is involved in the occurrence, development, infiltration and metastasis of non-smal cel lung cancer, and it has important clinical significance for the disease progression and prognosis.

Objective To explore the relationship between flood ing and the prevalence of schistosomiasis in the river beach area. Met hods The subjects were investigated on the ways of exposure, frequency and duratio n of water conta cted from May to November in 1999, and eggs of Schistosoma were examined bef ore and after flooding. Results Exposure to infested water for human being s in the area comprised productive, living and recreational contacts including 11 kinds of activities, and 53.55% of the subjects contacted infested w ater. The number of person, frequency and duration of water contacted in floodin g strongly increased; the infection rate and density among population stron gly increased after flooding. There was significant difference between the infec tion rate in exposure group and that in non-exposure group. Conclusions It can be inferred that flooding has increased water contacted and i nfection, therefore, health education should be strengthened to avoid or dec rease water contact.

ObjectiveTo explore temperament characteristics of children with cerebral palsy.Methods364 children with cerebral palsy, ages from four months to seven years, were tested with modified Carey\'s Children Temperament Questionnaires. Temperament characteristics of children with different types of cerebral palsy, able and unable walk independently were compared.ResultsChildren with cerebral palsy had negative temperament including less active, low persistence, high distractibility and negative mood. Approach was different between children with diplegia and athtosis. There were no different temperaments among children with different lever of IQ. Children they could not walk independently had an obvious negative temperament.ConclusionChildren with cerebral palsy have significantly negative temperament.

Objective:To explore the relationship between type I hypersensitivity reaction and the mechanism of the viral hepatitis B through the research of interleukin(IL-13 ) and prostaglandin(PGE1) levels in serum of patients with viral hepatitis B, and therefore, to provide new theory for the perfection of the immunological mechanism of hepatitis B, especially acute hepatitis B.Methods:Serum IL-13 and PGE1 levels were measured in 50 patients with viral hepatitis B and 35 normal cases using double antibody sandwich ELISA method. AST and ALT levels were studied using omni automatic biochemistry analyzer and those correlation with IL-13 and PGE1 were observed.Results:①The IL-13 and PGE1 levels of 10 acute hepatitis B were significantly higher than those of the normal cases; ②The IL-13 and PGE1 levels of 35 chronic hepatitis B were also significantly higher than those of the normal cases; ③The levels of IL-13 and PGE1 were significantly positively correlated with serum ALT and AST.Conclusion:IL-13 and PGE1 levels in patients with acute hepatitis B are most remarkably increased, and correlate with the damage of liver.

Objective To study the relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex (TSC).Methods The clinical data of 76 patients with TSC diagnosed in Guangdong 999 Brain Hospital were collected between May 2007 and May 2014 and then TSC gene mutation analysis was performed.Genotype-phenotype analyses for all the patients were also carried out.Results Fifty of the 76 (66％) patients were male,and 26 (34％) were female,in which 19 (31％) patients presented with cyst-like cortical tuber,69 (92％) with skin lesions,16 (30％) with renal lesions,50 (69％) with mental retardation and 39 still suffered seizures after a year.In this study,22 (29％) cases showed TSC1 gene mutation,31 (59％) presented TSC2 gene mutation,and 15 (20％)cases had no mutation identified.The mutation ratio of TSC1 ∶ TSC2 was approximately 3 ∶ 5,while the mutation ratio of TSC1 ∶ TSC2 was 1 ∶ 1 for familial TSC patients,and 1 ∶ 2 for sporadic TSC patients.Comparing to those with TSC1 gene mutation and no mutation identified,patients with TSC2 gene mutation exhibited statistical meaning on the aspects of the onset age of seizure (Z =1.688,P =0.007),seizure onset before l-year-old (x2 =10.584,P =0.001),epilepsy duration (x2 =4.996,P =0.025),spasms onset (x2 =10.111,P =0.001),cyst-like cortical tuber (x2 =9.182,P =0.002),skin lesions (x2 =9.016,P =0.003),as well as renal lesions (x2 =6.079,P =0.014).No apparent relation was found between genotype and intelligence outcome.Conclusions The patients with TSC2 gene mutations presented severer symptoms in seizure onset than those with TSC1 gene mutation and no mutation identified.The patients with TSC2 gene mutation were characterized by early onset of seizure,especially before 1-year-old,others like spasms onset,cyst-like cortical tuber,skin lesions,as well as renal lesions being more vulnerable.Therefore,more active treatment should be given to the patients with TSC2 gene mutation.

AIM:To explore the effect of FOXQ1 gene silencing on angiogenesis and proliferation ability of co-lon cancer cells induced by Sonic hedgehog (Shh).METHODS:Lentivirus expressing different FOXQ1-shRNA or nega-tive cantrol (NC)-shRNA was used to infect the SW480 cells.The best silencing condition was screened and used in the following experiments .The SW480 cells were divided into interfered group ( FOXQ1-shRNA) and control group ( NC-shR-NA) .The MTT assay was used to observe the doubling time and cell activity .Tube formation assay was performed to detect the ability of angiogenesis.Meanwhile, the expression of vascular endothelial growth factor (VEGF)-A, matrix metallopro-teinase ( MMP) 2 and cyclin D1 at mRNA and protein levels was determined by real-time PCR and Western blot .After in-duction of the cells by recombinant Shh proteins , the changes of angiogenesis and proliferation ability in each group were detected.At the same time, the transformation of related gene was examined .RESULTS:Compared with control group , the angiogenic ability in interfered group was decreased , and no obvious difference of proliferation ability was observed .The expression of VEGF-A and MMP2 was declined significantly , and the expression of cyclin D 1 was not obviously changed . Recombinant Shh proteins improved the expression of FOXQ1 gene.Compared with NC-shRNA group, after induction, the angiogenic ability of FOXQ1-shRNA group was decreased , and the proliferation ability was not obviously changed .CON-CLUSION:FOXQ1 gene mediates the angiogenic ability but does not affect the proliferation ability of SW 480 cells.Mean-while, it may be regulated by shh pathway .

Objective To explore the common causes of epilepsy and the etiologic characteristics in different age groups of patients with epilepsy.Methods A retrospective survey was made in 5572 epilepsy patients in Epileptic Center of Guangdong 999 Brain Hospital from January 2003 to December 2009.According to the diagnostic criteria published in 2005 from ILAE,all the diagnoses of 5572 cases were made by epileptic specialists.Based on history,cranial MRI or CT and pathologic data,causes of epilepsy were classified into idiopathic,symptomatic and cryptogenic epilepsy.The cases of symptomatic epilepsy were further arranged into different categories in different age grades,such as head trauma,perinatal injuries,infection in central nervous system, cerebral vascular disease, brain tumor, disorders of cortical development,neurocutaneous syndrome and others.The cases with febrile seizures and family history were collected,and positive ratio of febrile seizures and family history were contrasted in different categories of cases by Kruskal-Wallis test ( nonparametric test ).Results In 5572 cases,66 were idiopathic,2834 symptomatic,2672 cryptogenic,and the ratio of these causes was 1％,51％,48％ respectively.Among 2834 cases of symptomatic epilepsy,822 were head trauma,497 were perinatal injuries,360 were infection in central nervous system,249 were brain tumor,150 were cerebral vascular disease,135 were disorders of cortical development,62 were neurocutaneous syndrome and 559 were others. In brief,head trauma,perinatal injuries,infection in central nervous system,brain tumor and cerebral vascular disease were top 5 causes of symptomatic epilepsy. Hippocampal sclerosis was found in 744 cases in those of eryptogenic epilepsy.The importance of febrile seizures( idiopathic:15.2％ ( 10/66 ),symptomatic:6.5％ ( 185/2834 ),cryptogenic:9.4％ ( 250/2672 ) ; x2 =181.393,P =0.000 ) and family history ( idiopathic:83.3％ ( 55/66 ),symptomatic:1.1％ (31/2834),cryptogenic:0.4％ (12/2672) ; x2 =68.354,P =0.000) was statistically different in different causes of epilepsy.Febrile seizures was the most frequent in cases with hippocampal sclerosis than those with other causes,and family history was the most frequent in neurocutaneous syndrome in symptomatic cases.Perinatal injurics was thc first causc in cases of infancy and childhood,head trauma was the top one in those of juvenile and adulthood,and cerebral vascular disease was the main cause in senile cases. Conclusions In the whole epileptic cases of 5572, 1％ was idiopathic,51％ was symptomatic,and 48％ cryptogenic. The main causes of them were head trauma,perinatal injuries,infection in central nervous system,brain tumor,and cerebral vascular disease.

OBJECTIVETo explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).

METHODSDNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset.

RESULTSBoth families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom.

CONCLUSIONThe clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.

Adolescent ; Adult ; Aged ; Atrophy ; genetics ; Basal Ganglia Diseases ; diagnosis ; genetics ; DNA Mutational Analysis ; Dentate Gyrus ; pathology ; Family Health ; Female ; Globus Pallidus ; pathology ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins ; genetics ; Pedigree ; Trinucleotide Repeat Expansion ; genetics ; Young Adult

OBJECTIVE: To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation. METHODS: The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out. RESULTS: Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR. CONCLUSION Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.

Aggregatibacter aphrophilus is a member of the normal flora of the human oral cavity and pharynx, a Gram-negative fastidous bacteria, belonging to agglomerates, which is a normal mixed oropharyngeal flora in humans, most commonly colonized on the surface of oral mucosa. This bacterial infection is rare in clinical practice, and it is difficult to culture and identify the bacteria, which is easy to be missed. A patient with intracranial infection was admitted to Huaihe Hospital, who showed fever and headache as the main clinical manifestations, and Aggregatibacter aphrophilus was detected by the metagenomic next-generation sequencing of cerebrospinal fluid. The patient′s symptoms were significantly improved after anti-infection treatment.