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The IgG2 Isotype of Anti-Transcription Intermediary Factor 1γ Autoantibodies Is a Biomarker of Cancer and Mortality in Adult Dermatomyositis.
Aussy, A, Fréret, M, Gallay, L, Bessis, D, Vincent, T, Jullien, D, Drouot, L, Jouen, F, Joly, P, Marie, I, et al
Arthritis & rheumatology (Hoboken, N.J.). 2019;(8):1360-1370
Abstract
OBJECTIVE Anti-transcription intermediary factor 1γ (anti-TIF1γ) antibodies are the main predictors of cancer in dermatomyositis (DM). Yet, a substantial proportion of anti-TIF1γ-positive DM patients do not develop cancer. This study was undertaken to identify biomarkers to better evaluate the risk of cancer and mortality in DM. METHODS This multicenter study was conducted in adult anti-TIF1γ-positive DM patients from August 2013 to August 2017. Anti-TIF1γ autoantibody levels and IgG subclasses were identified using a newly developed quantitative immunoassay. Age, sex, DM signs and activity, malignancy, and creatine kinase (CK) level were recorded. Risk factors were determined by univariate and multivariate analysis according to a Cox proportional hazards regression model. RESULTS Among the 51 adult patients enrolled (mean ± SD age 61 ± 17 years; ratio of men to women 0.65), 40 (78%) had cancer and 21 (41%) died, with a mean ± SD survival time of 10 ± 6 months. Detection of anti-TIF1γ IgG2 was significantly associated with mortality (P = 0.0011) and occurrence of cancer during follow-up (P < 0.0001), with a 100% positive predictive value for cancer when the mean fluorescence intensity of anti-TIF1γ IgG2 was >385. None of the patients developed cancer after 24 months of follow-up. Univariate survival analyses showed that mortality was also associated with age >60 years (P = 0.0003), active DM (P = 0.0042), cancer (P = 0.0031), male sex (P = 0.011), and CK level >1,084 units/liter (P = 0.005). Multivariate analysis revealed that age >60 years (P = 0.015) and the presence of anti-TIF1γ IgG2 (P = 0.048) were independently associated with mortality. CONCLUSION Our findings indicate that anti-TIF1γ IgG2 is a potential new biomarker of cancer that should be helpful in identifying the risk of mortality in anti-TIF1γ-positive DM patients.
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Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier, A, Lauwers-Cances, V, Cintas, P, Manel, V, Peudenier, S, Desguerre, I, Quijano-Roy, S, Vanhulle, C, Fradin, M, Isapof, A, et al
Neuromuscular disorders : NMD. 2019;(2):114-126
Abstract
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective study to determine the prognosis of children with SMARD1 according to their phenotype. We recorded all known French pediatric cases with mutations identified on the immunoglobulin μ-binding protein 2 gene and the presence of respiratory symptoms. Thirty centers provided 22 observations. A diaphragmatic palsy was diagnosed 1.5 months (p = 0.02) after first respiratory symptoms, and hypotonia preceded areflexia by 4 months (p = 0.02). Early onset of symptoms leading to specialist consultation before the age of 3 months was associated with a significantly worse prognosis (p < 0.01). Among the 6 patients who were still alive, all were tracheostomized. Only one case survived beyond 2 years without artificial ventilation. The remaining patients died at a median age of 7 months. Our results may help pediatricians to provide medical information to parents and improve the decision-making process of setting up life support.
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The effects of interventional therapy on serum HTATIP2/TIP30, B7-H4 and short-term curative effect in primary hepatocellular carcinoma.
Zheng, ZJ, Fu, J, Zhi, F, Liu, WJ, Guo, YJ, Zhu, DD, Mo, JG
European review for medical and pharmacological sciences. 2018;(20):6778-6783
Abstract
OBJECTIVE To explore the effects of interventional therapy on human immunodeficiency virus (HIV)-1 Tat interactive protein 2/Tat interactive protein 30 (HTATIP2/TIP30), B7-H4 and short-term curative effect in primary hepatocellular carcinoma. PATIENTS AND METHODS 62 patients with primary hepatocellular carcinoma admitted in our hospital from June 2015 to June 2016 were enrolled in this study and divided into observation group (n = 31) and control group (n = 31) according to the random number table. The patients in the control group were treated with radiofrequency ablation, and the patients in the observation group were treated with transcatheter arterial chemoembolization (TACE). The patients in both groups received liver protection therapy, hydration, antiemetic and stomach protection. The curative effects, the serum HTATIP2/TIP30, B7-H4, alanine aminotransferase (ALT) and total bilirubin in serum (TBIL), life quality before and after treatment, and survival during the 1-year follow-up, were compared. RESULTS The total short-term effective rate (70.97%) was higher than the control group (38.71%) (p < 0.05). The serum levels of HTATIP2/TIP30 and B7-H4 were decreased after treatment in both groups (observation group: t = 17.1838, 18.9795, control group: t = 8.3787, 10.6393, p < 0.05). The serum levels of HTATIP2/TIP30 and B7-H4 after treatment in the observation group were lower than the control group (t = 12.2975, 10.5361, p < 0.05). The levels of ALT and TBIL were decreased after treatment (observation group: t = 15.1716, 34.5771, control group: t = 8.3374, 17.3015, p < 0.05). The levels of ALT and TBIL were lower in the observation groups than the control group (t = 15.2697, 16.8592, p < 0.05). The improvement rate of life quality in the observation group (80.65%) was higher than the control group (54.84%) (p < 0.05). The survival rates of the two groups after 1-year follow-up were not statistically different (p > 0.05). CONCLUSIONS The short-term curative effect of interventional therapy of primary hepatocellular carcinoma is good. It can decrease serum HTATIP2/TIP30 and B7-H4, improves the liver function and the life quality of patients, prolonging the survival time. It has a high research value and it is worthy of further application.
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Cyclic adenosine monophosphate-regulated transcriptional co-activator 3 polymorphism in Chinese patients with acute coronary syndrome.
Zhu, L, Wang, Y, Jiang, J, Zhou, R, Ye, J
Medicine. 2018;(27):e11382
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Abstract
To investigate the cAMP-regulated transcriptional co-activator 3 (CRTC3) polymorphism and its significance in the acute coronary syndrome patients.In total, 248 patients with acute coronary syndrome admitted to Taizhou People's Hospital between March 2016 and October 2016 were included in this study. Eighty-eight age- and gender-matched healthy individuals received physical examination in our hospital served as normal control. Single nucleotide polymorphism (SNP) analysis of CRTC3 (rs3862434 and rs11635252) was evaluated using PCR amplification.For the SNP of CRTC3, significant differences were identified in rs3862434 (AA/AG) and rs11635252 (TT/CT/CC) between the 2 groups (P < .05). Statistical increase was noticed in the high density lipoprotein cholesterol (HDL-C) in those with AG phenotype compared with those with AA phenotype in those with rs3862434. Significant decrease was identified in the total cholesterol (TC), triglyceride (TG), and weight in those with CC phenotype compared with those with CT phenotype among the cases with rs11635252 (P < .05).CRTC3 polymorphism was associated with the onset of acute coronary syndrome in Han Chinese patients, which may be related to the imbalance of the lipid metabolism.
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GLI1 Transcription Factor Affects Tumor Aggressiveness in Patients With Papillary Thyroid Cancers.
Lee, J, Jeong, S, Lee, CR, Ku, CR, Kang, SW, Jeong, JJ, Nam, KH, Shin, DY, Chung, WY, Lee, EJ, et al
Medicine. 2015;(25):e998
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Abstract
A significant proportion of patients with papillary thyroid cancer (PTC) present with extrathyroidal extension (ETE) and lymph node metastasis (LNM). However, the molecular mechanism of tumor invasiveness in PTC remains to be elucidated. The aim of this study is to understand the role of Hedgehog (Hh) signaling in tumor aggressiveness in patients with PTC. Subjects were patients who underwent thyroidectomy from 2012 to 2013 in a single institution. Frozen or paraffin-embedded tumor tissues with contralateral-matched normal thyroid tissues were collected. Hh signaling activity was analyzed by quantitative RT-PCR (qRT-PCR) and immunohistochemical (IHC) staining. Datasets from Gene Expression Omnibus (GEO) (National Center for Biotechnology Information) were subjected to Gene Set Enrichment Analysis (GSEA). BRAFT1799A and telomerase reverse transcriptase promoter mutation C228T were analyzed by direct sequencing. Among 137 patients with PTC, glioma-associated oncogene homolog 1 (GLI1) group III (patients in whom the ratio of GLI1 messenger ribonucleic acid (mRNA) level in tumor tissue to GLI1 mRNA level in matched normal tissue was in the upper third of the subject population) had elevated risk for ETE (odds ratio [OR] 4.381, 95% confidence interval [CI] 1.414-13.569, P = 0.01) and LNM (OR 5.627, 95% CI 1.674-18.913, P = 0.005). Glioma-associated oncogene homolog 2 (GLI2) group III also had elevated risk for ETE (OR 4.152, 95% CI 1.292-13.342, P = 0.017) and LNM (OR 3.924, 95% CI 1.097-14.042, P = 0.036). GSEA suggested that higher GLI1 expression is associated with expression of the KEGG gene set related to axon guidance (P = 0.031, false discovery rate < 0.05), as verified by qRT-PCR and IHC staining in our subjects.GLI1 and GLI2 expressions were clearly related to aggressive clinicopathological features and aberrant activation of GLI1 involved in the axon guidance pathway. These results may contribute to development of new prognostic markers, as well as novel therapeutic targets.
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Korean Atrial Fibrillation (AF) Network: Genetic Variants for AF Do Not Predict Ablation Success.
Choi, EK, Park, JH, Lee, JY, Nam, CM, Hwang, MK, Uhm, JS, Joung, B, Ko, YG, Lee, MH, Lubitz, SA, et al
Journal of the American Heart Association. 2015;(8):e002046
Abstract
BACKGROUND Genomewide association studies have identified several loci associated with atrial fibrillation (AF) and have been reportedly associated with response to catheter ablation for AF in patients of European ancestry; however, associations between top susceptibility loci and AF recurrence after ablation have not been examined in Asian populations. We examined whether the top single nucleotide polymorphisms (SNPs) at chromosomes 4q25 (PITX2), 16q22 (ZFHX3), and 1q21 (KCNN3) were associated with AF in a Korean population and whether these SNPs were associated with clinical outcomes after catheter ablation for AF. METHODS AND RESULTS We determined the association between 4 SNPs and AF in 1068 AF patients who underwent catheter ablation (74.6% male, aged 57.5±10.9 years, 67.9% paroxysmal AF) and 1068 age- and sex-matched controls. The SNPs at the PITX2 and ZFHX3 loci, but not the KCNN3 locus, were significantly associated with AF (PITX2/rs6843082_G: odds ratio 3.41, 95% CI 2.55 to 4.55, P=1.32×10(-16); PITX2/rs2200733_T: odds ratio 2.05, 95% CI 1.66 to 2.53, P=2.20×10(-11); ZFHX3/rs2106261_A: odds ratio 2.33, 95% CI 1.87 to 2.91, P=3.75×10(-14); KCNN3/rs13376333_T: odds ratio 1.74, 95% CI 0.93 to 3.25, P=0.085). Among those patients who underwent catheter ablation for AF, none of the top AF-associated SNPs were associated with long-term clinical recurrence of AF after catheter ablation. CONCLUSIONS SNPs at the PITX2 and ZFHX3 loci were strongly associated with AF in Korean patients. In contrast to prior reports, none of the 4 top AF-susceptibility SNPs predicted clinical recurrence after catheter ablation.