Yang H.,Guangzhou University |
Cai L.,Guangdong 999 Brain Hospital |
Zhang Y.,Guangzhou University |
Tan H.,State Key Laboratory of Respiratory Diseases |
And 3 more authors.
Journal of Molecular Diagnostics | Year: 2014
Epidermal growth factor receptor (EGFR) mutations in cerebrospinal fluid (CSF) might be useful predictive markers for EGFR tyrosine kinase inhibitor treatment of intracranial metastatic tumors. In this retrospective study, amplification refractory mutation system (ARMS)-PCR assays were used to investigate the EGFR gene status in 30 lung adenocarcinoma patients with brain metastases. A total of 16 patients tested positive for EGFR-activating mutations in CSF or tumor tissues. These included L858R mutation in exon 21 in six CSF samples and exon 19 deletions in seven CSF samples. EGFR mutations were detected between CSF and primary tumor samples with a 75% positive predictive value (95% CI, 0.45-1.00), 75% negative predictive value (95% CI, 0.51-0.99), 67% sensitivity (95% CI, 0.36-0.97), and 82% specificity (95% CI, 0.59-1.00). Most of the patients who had EGFR mutations in CSF achieved good responses with EGFR-tyrosine kinase inhibitor treatment. In conclusion, ARMS-PCR could be a sensitive method of detecting EGFR mutations in the CSF of patients with lung adenocarcinoma with brain metastases. As such, ARMS-PCR could play an important role in guiding EGFR-tyrosine kinase inhibitor treatments of intracranial tumors and for diagnosing brain metastases in patients with lung adenocarcinoma. © 2014 American Society for Investigative Pathology.
Li G.,PLA Fourth Military Medical University |
Jin T.-B.,Life Detection Systems |
Wei X.-B.,Hanzhong Central Hospital |
He S.-M.,PLA Fourth Military Medical University |
And 6 more authors.
Cancer Epidemiology | Year: 2012
Background: Current evidence suggests that a majority of the inherited risks play a major role in glioma susceptibility, and glioma is due to the co-inheritance of multiple low-risk variants. These variants can be identified through association studies including such as genome-wide association studies (GWAS), which has led the glioma epidemiology researchers to focus on identifying potential disease-causing factors. Methods: We evaluated and validated 10 tag single nucleotide polymorphisms (tSNPs) in seven genes associated with glioma susceptibility in a Han Chinese population, including 301 glioma cases and 302 controls, using a multiplexed single nucleotide polymorphism (SNP) MassEXTEND assay. We ascertained the genotypic frequencies for each tSNP in control subjects were within Hardy-Weinberg equilibrium (HWE) using an exact test, and then compared the genotype and allele frequencies of glioma patients and control subjects using the χ2 test. We then applied three genetic models (dominant, recessive, and additive) using PLINK software to assess the association of each tSNP with glioma risk. Results: We identified two tSNPs to be associated with glioma susceptibility (rs1695, GSTP1, P=0.019; rs2853676, TERT, P=0.039), which we confirmed using dominant and additive model analyses. The genotype “GA” for rs1695 was recognized to be a protective genotype for glioma (OR, 0.67; 95% CI, 0.47-0.96; P=0.027), while the genotype “AG” for rs2853676 was shown to be a risk genotype for glioma (OR, 1.50; 95% CI, 1.05-2.15; P=0.025). Conclusion: Our results, and those from previous studies, suggest potential genetic contributes for GSTP1 and TERT in glioma development. © 2012 Elsevier Ltd.
Jin T.,Life Detection Systems |
Zhang J.,Life Detection Systems |
Li G.,PLA Fourth Military Medical University |
Li S.,PLA Fourth Military Medical University |
And 3 more authors.
Cancer Biotherapy and Radiopharmaceuticals | Year: 2013
Recent advances in human genetic studies have opened new avenues for the identification of susceptibility genes for many complex genetic disorders, especially in the field of rare cancers such as glioma. Glioma is one of the least understood human tumors and the etiology for glioma is barely known. Hundreds of single-nucleotide polymorphisms (SNPs) are found to be related to the risk of glioma in previous studies. This study is committed to investigate the role of heredity in this disorder. To examine and validate how common variants contribute to glioma susceptibility in the Han Chinese population, we evaluated 12 tagging SNPs in a case-control study in the Chinese Han population from Xi'an city of China (301 cases and 302 controls). Overall, two protective alleles and one risk allele for glioma were found by genetic model analyses. In dominant model, the allele "T" of rs6947203 in the RPA3 gene acts as a protective allele [odds ratio (OR), 0.59; 95% confidence interval (CI), 0.22-0.90; p=0.014]. In recessive model, the allele "C" of rs1042522 in the TP53 gene acts as a risk allele (OR, 1.65; 95% CI, 1.05-2.59; p=0.0314). In additive model, the allele "G" of rs4140805 in the RPA3 gene (OR, 0.73; 95% CI, 0.53-0.99; p=0.0437) and the allele "T" of rs6947203 in the RPA3 gene (OR, 0.62; 95% CI, 0.42-0.92; p=0.0177) both act as protective alleles. We also observed a haplotype of "CC" in the TP53 gene with an increased risk of 34% of developing glioma (p=0.0306). Our results, combined with previous studies, ascertain the potential role of the TP53 gene to glioma onset. © Mary Ann Liebert, Inc.
Wang Y.-G.,Xijing University |
Li Z.,Weifang Peoples Hospital |
Zhang W.,Guangdong 999 Brain Hospital |
Prakash R.,Ms Ramaiah Medical College
Epilepsy and Behavior | Year: 2014
Background: It is well known that dissociative experiences coexist with various epilepsy syndromes. However, the prevalence of dissociative experiences in different subtypes of epilepsy remains unknown. This is especially important because of the current prevalent view that the etiology of dissociation in seizures is neurobiological rather than psychosocial. The amygdala especially has been implicated in such dissociative features of epilepsy. This would indirectly imply that the patients with CPS have higher prevalence of dissociative symptoms compared with those with GTCS. Methodology: We studied and compared the dissociative experiences as well as the depression and anxiety levels between 24 patients suffering from temporal lobe epilepsy and 26 patients suffering from generalized tonic-clonic seizures. We used the Dissociative Experiences Scale to evaluate the dissociative experiences. A third group of healthy individuals was included as the control group. The statistical significance was fixed at 0.05. Results: There were significant differences between the scores of DES-II of the healthy individuals and those of patients with epilepsy. However, there were no significant differences between the DES scores of different patients with epilepsy categorized according to neuropathology. There were also no significant differences between HAM-A and HAM-D scores between groups with epilepsy, but the scores were higher than those of the healthy individuals. There were significant differences between the DES scores in different sociodemographic groups such that higher scores were observed in groups with lower education (p. <. 0.05). In addition, the scores on DES were higher in individuals with low socioeconomic status than in those with high socioeconomic status. Conclusion: The patients with temporal lobe epilepsy and those with generalized tonic-clonic seizures have similar dissociative experiences which are both more than those found in individuals without epilepsy. However, these dissociative experiences may not be related to the neuropathological parameters as much as they are to the sociodemographic parameters like education, age, socioeconomic status, and sex. This shows that the psychopathology of dissociation in epilepsy is similar to that of the general population. © 2014.
Hou Y.,Guangdong Medical College |
Huang Q.,Guangdong 999 Brain Hospital |
Prakash R.,Ranchi Institute of Neuropsychiatry and Allied science |
Chaudhury S.,Ranchi Institute of Neuropsychiatry and Allied science
Annals of Indian Academy of Neurology | Year: 2013
Background: Near death experiences (NDE) are receiving increasing attention by the scientific community because not only do they provide a glimpse of the complexity of the mind-brain interactions in 'near-death' circumstances but also because they have significant and long lasting effects on various psychological aspects of the survivors. The over-all incidence-reports of NDEs in literature have varied widely from a modest Figure of 10% to around 35%, even up to an incredible Figure of 72% in persons who have faced close brush with death. Somewhat similar to this range of difference in incidences are the differences prevalent in the opinions that theorists and researchers harbor around the world for explaining this phenomena. None the less, objective evidences have supported physiological theories the most. A wide range of physiological processes have been targeted for explaining NDEs. These include cerebral anoxia, chemical alterations like hypercapnia, presence of endorphins, ketamine, and serotonin, or abnormal activity of the temporal lobe or the limbic system. In spite of the fact that the physiological theories of NDEs have revolved around the derangements in brain, no study till date has taken up the task of evaluating the experiences of near-death in patients where specific injury has been to brain. Most of them have evaluated NDEs in cardiac-arrest patients. Post-traumatic coma is one such state regarding which the literature seriously lacks any information related to NDEs. Patients recollecting any memory of their post-traumatic coma are valuable assets for NDE researchers and needs special attention. Materials and Methods: Our present study was aimed at collecting this valuable information from survivors of severe head injury after a prolonged coma. The study was conducted in the head injury department of Guangdong 999 Brain hospital, Guangzhou, China. Patients included in the study were the ones Recovered from the posttraumatic coma following a severe head injury. A total of 86 patients were chosen. Near death experience scale (NDES) score of 7 or more was used as the criteria of screening NDE experiences. After identifying such individuals, the Prakash-modification of the Interpretative Phenomenological Analysis (IPA) was used to interview and record the data for qualitative analysis. Results: We found that contrary to earlier incidence reports, NDEs in post head injury patients were markedly low. Only 3 out of 86 of the patients recruited had a clear and confident experience of NDE. We conducted a qualitative study to explore further into these experiences. IPA of these 3 patients revealed four master themes: 1. Unique light visions 2. Intense feelings of astonishment, pleasure, and fear 3. The sense of helplessness 4. Supernatural but rationality of experience. Conclusion: NDE is uncommon in head-injury cases as compared to other near-death conditions. But the persons experiencing it have immense impacts on their belief systems and emotions. This experience should be further explored by studies of larger samples. © 2013 Annals of Indian Academy of Neurology.