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Liu Y.,Dalian Municipal Friendship Hospital | Winarni T.,Diponegoro University | Zhang L.,University of California at Davis | Tassone F.,University of California at Davis | Hagerman R.,University of California at Davis
Clinical Genetics | Year: 2013

The grey zone (GZ; 45-54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55-200 CGG repeats). Both patients had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1-mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 84 1 July 2013 10.1111/cge.12026 SHORT REPORT SHORT REPORTS © 2012 John Wiley & Sons A/S. Source


Hamlin A.,University of California at Davis | Liu Y.,Dalian Municipal Friendship Hospital | Nguyen D.V.,University of California at Davis | Tassone F.,University of California at Davis | And 3 more authors.
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | Year: 2011

This report seeks to establish the prevalence of sleep apnea in patients with the fragile X mental retardation 1 (FMR1) premutation with and without fragile X-associated tremor/ataxia syndrome (FXTAS) and to determine any correlation between CGG repeat and FMR1 mRNA levels with sleep apnea prevalence. Demographic and medical data from 430 (229 males, 201 females) participants were used in this analysis. Participants included premutation carriers with (n=118) and without FXTAS (n=174) as well as controls without the premutation (n=123). Logistic regression models were employed to estimate the odds ratio of sleep apnea relative to controls, adjusted for age and gender, and also to examine potential association with CGG size and FMR1 mRNA expression level. The observed proportion of sleep apnea in premutation carriers with and without FXTAS and controls are 31.4% (37/118), 8.6% (15/174), and 13.8% (17/123), respectively. The adjusted odds of sleep apnea for premutation carriers with FXTAS is about 3.4 times that compared to controls (odds ratio, OR=3.4, 95% confidence interval (CI) 1.8-7.4; P=0.001), and similarly relative to premutation carriers without FXTAS (OR=2.9, 95% CI 1.2-6.9; P=0.014). The risk of sleep apnea was not different between controls and premutation carriers without FXTAS. The presence of sleep apnea is not associated with CGG repeat numbers nor FMR1 mRNA expression level among premutation carriers. Our data supports a higher prevalence and risk of sleep apnea in patients with FXTAS. We recommend that all patients diagnosed with FXTAS be screened for sleep apnea given the negative and perhaps accelerative impact sleep apnea may have on their FXTAS progression. © 2011 Wiley Periodicals, Inc. Source


Wang L.,Dalian Municipal Friendship Hospital | Liu J.-W.,Dalian Medical University | Yu P.-Y.,Dalian Medical University
Chinese Journal of New Drugs | Year: 2013

Objective: To evaluate the efficacy and toxicity of icotinib hydrochloride, and to analyze prognostic factors influencing curative effect in patients with advanced non-small cell lung cancer (NSCLC). Methods: A total of 66 patients with IIIB or IV NSCLC were enrolled in this study from January 2011 to February 2013, and all of these patients had been confirmed by pathology or cytology. Of the patients, 34 were newly diagnosed and received icotinib hydrochloride for the first-line treatment; 16 received icotinib hydrochloride for second-line treatment and 16 for third and more than third-line treatment. Results: Of the 66 patients, 16 had received icotinib hydrochloride for more than one month, and 4 did not tolerate the side events to stop taking the medicine. There was none with complete response, 24 patients had partial response, 24 had stable disease and 14 had progressive disease. The objective response was 38.7%, and the disease control rate was 77.4%. In 7 patients, EGFR was detected and found to be mutant; among them 3 patients had partial response and 4 had stable disease. The total progressive free survival was 7 months. The progressive free survivals after first-line treatment, second-treatment, and third or more than third treatment were 11(1~16.3), 6(0.3~11.5) and 5(1~14.7) months, respectively. The effect of icotinib hydrochloride did not relate to clinical characteristics statistically. Subgroup analysis showed that PFS significantly related to ECOG score, smoking status, pathological types and rash. The main clinically relevant toxicity in 66 patients was rash that occurred in 27 patients including grade I in 23 patients, grade II in 3 patients and grade III in 1 patient. Diarrhea occurred in 12 patients including grade I in 9 patients, grade II in 3 patients and grade III in 3 patients. Other toxic reactions included stomach discomfort, heart discomfort, ALT/AST elevation, vomiting, skin itch, dry skin, pain and anemia. Four patients did not continue the therapy because of adverse events, which included diarrhea (2 patients, one was grade I and one was grade II), vomiting (1 patient, grade I) and cardiac discomfort (1 patient, grade I). Conclusion: Treatment with icotinib hydrochloride shows satisfactory clinical efficacy, and is tolerable for patients with advanced NSCLC. Advanced NSCLC patients with a lower ECOG score or experiencing a skin rash after taking icotinib hydrochloride would achieve better efficacy. Source


Ye L.,Fudan University | Ye L.,Tongji University | Yao X.-D.,Fudan University | Yao X.-D.,Tongji University | And 10 more authors.
Prostate | Year: 2014

BACKGROUND Prostate cancer cells must maintain or achieve the further ability of proliferation during the progression. The molecular mechanisms, however, remain poorly understood. We identified a novel oncogene, termed membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), over-expressed in prostate cancer. METHODS We firstly detected MS4A8B mRNA in 13 types of paired human normal and cancer tissues by real-time polymerase chain reaction (RT-PCR). In 140 clinically localized prostate cancer samples from radical prostatectomy, immunohistochemical staining was performed to study MS4A8B and PCNA protein level as an index of proliferative activity, TUNEL staining as an index of apoptosis. As MS4A8B RNAi and cDNA transfection technologies were used, the effect of MS4A8B on cellular vitality was determined in vitro and in vivo. RESULTS MS4A8B mRNA was over-expressed specifically in prostate cancer. Positive ratios of MS4A8B protein expression were 1.94%, 5.92%, and 62.8% in benign, HPIN and prostate cancer, respectively. Moreover, MS4A8B was positively associated with Gleason score, the proliferation index. In vitro, MS4A8B knockdown resulted in G1-S cell cycle arrest and descended vitality, MS4A8B over-expression with accelerated S phase entry, elevated vitality in prostate cancer cells. Moreover, it was also found that expression of MS4A8B led to changes of Cyclin D1, Cyclin E1 and PCNA. LNCaP cells transfected with sh-MS4A8B lentivirus particles grew more slowly when subcutaneously injected into the flanks of nude mice. CONCLUSIONS We conclude that the expression of MS4A8B expression promotes cell proliferation and plays an important role in carcinogenesis and progression of prostate cancer. Prostate 74:911-922, 2014. © 2014 Wiley Periodicals, Inc. © 2014 Wiley Periodicals, Inc. Source


Ye L.,Dalian Medical University | Ye L.,Fudan University | Li S.,Dalian Medical University | Li S.,Yulong Biomedical Groups | And 8 more authors.
European Journal of Cancer | Year: 2013

Livin has been recently described as an inhibitor of apoptosis, which is established to be associated with a variety of cancers. Metastatic prostate cancer cell line DU145 expresses high level of Livin mRNA yet low level of its protein. Thus, we hypothesised that Livin was regulated by some miRNAs in prostate cancer cells. Livin mRNA and protein expression were investigated by reverse-transcriptase polymerase chain reaction (RT-PCR) and Western blot, respectively. Hairpin RT-PCR was performed to analyse suspected miRNAs. Livin 3′-untranslated region (3′-UTR) wild type and mutant dual-luciferase reporter vectors were constructed. The miRNAs targeting Livin were predicted by the online software-TargetScan and miRBase, and then validated by dual luciferase reporter gene assay. We found that post-transcriptional inhibition of Livin occurred in DU145 cells, assumedly due to the miRNA pathway. Among 6 candidate miRNAs, miR-198 expression was identified to be negatively correlated with Livin expression level in some prostate cancer cell lines. Further study revealed miR-198-mediated repression of Livin expression. Therefore, the regulation of Livin expression may involve miR-198 in prostate cancer cell lines. © 2012 Elsevier Ltd. All rights reserved. Source

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