Comparison of Uhl's anomaly, right ventricular outflow tract ventricular tachycardia (RVOT VT) & arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) with an insight into genetics of ARVD/C
Pamuru P.R.,Osmania University |
Dokuparthi M.V.N.,Osmania University |
Remersu S.,Kakatiya Medical College |
Calambur N.,The Institute of Medical science |
Nallari P.,Osmania University
Indian Journal of Medical Research | Year: 2010
Among the right ventricular conditions, Uhl's anomaly, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and right ventricular outflow tract ventricular tachycardia (RVOT VT) are disorders that exhibit pathogenic changes involving the right ventricular (RV) myocardium, and are expected to be severe or milder forms of the same condition. The review focuses on the aspect whether the three RV disorders are a spectrum of the same disease. ARVD/C is the only condition among these to be genetically well characterized. Also, variations in the clinical expression of ARVD/C due to the genetic heterogeneity are examined. Based on clinical manifestations, age at onset, gender ratio and the possible molecular mechanisms implicated, Uhl's anomaly, ARVD/C and RVOT VT may be considered as separate entities. Further, to differentiate between the three RV disorders, the molecular studies on ARVD/C might be helpful. An attempt was made to differentiate between the eleven different types of ARVD/Cs based on clinical symptoms presented including the progression of the disease to the left ventricle, ventricular arrhythmias and clinical characteristics like ECG, SAECG, ECHO and histopathological studies.
Sugimoto K.-J.,Juntendo University |
Shimada A.,Juntendo University |
Sakurai H.,Juntendo University |
Wakabayashi M.,Juntendo University |
And 8 more authors.
International Journal of Clinical and Experimental Pathology | Year: 2014
The patient was a 73-year-old male who came to our hospital with a chief complaint of pain and swelling of the left side of his jaw. Computed tomography revealed a mass in his left gingiva but no bone destruction. No lesions were observed at any other sites, and an incisional biopsy was performed on the gingival mass on the left side. Histologically, the mass was a diffuse large B-cell lymphoma (DLBCL), and it was CD20-positive, and CD5-negative, CD10-negative, surface immunoglobulin-negative, and Epstein-Barr virus-encoded RNA (EBER)-negative. A serum Human immunodeficiency virus (HIV)-antibody test was negative. A complete remission was achieved after 6 courses of systemic combination chemotherapy, and the complete remission has been maintained for approximately 3 years. According to the literature, primary gingival DLBCL have a high Ki-67-positive rate and many of the cases are stage I and international prognostic index low-risk. However, HIV patients have a high EBER-positive rate and a high risk of developing a CD20-negative, CD138-positive plasmablastic lymphoma, and they have a poor prognosis. By contrast, limited-stage primary gingival lymphomas whose data can be used have been rare in human immunodeficiency virus-negative patients, and only 12 cases, including our own, have ever been reported. Many of the patients have been around 65 years of age, and all of the cases have been CD20-positive, CD138-negative DLBCLs, and the CD5-negative, Epstein-Barr virus-positive rate has been low, with most cases having been non-germinal-center B-cell-like. The prognosis for relapse-free survival has been favorable.
Shivani V.,Osmania University |
Sujana K.,Osmania University |
Sastry B.K.S.,The Institute of Medical science |
Nallari P.,Osmania University
International Journal of Human Genetics | Year: 2011
A 44bp insertion/deletion in promoter of 5HTT (5Hydroxy Tryptamine Transporter) exists as a polymorphism in general population resulting in 3 genotypes LL (528 base pair), LS and SS (484 base pair). The transcriptional efficiency of the L allele is 2-3 fold higher than the S allele. The L-allelic variant of the 5-HTT gene promoter is associated with 5- HTT overexpression. This higher expression of the transporter leads to higher uptake of serotonin, resulting in activation of mitogenic pathways thereby inducing smooth muscle hyperplasia. The study focuses on the possible association of 5HTT insertion/deletion promoter polymorphism with Idiopathic Pulmonary Arterial Hypertension (IPAH) patients and distribution of the polymorphism among the control individuals from Indian population. In the present study, 65 IPAH cases and 100 controls were considered for comparative analysis. DNA samples from controls and patients were amplified using Polymerase Chain reaction and the products were genotyped on 2% agarose gel stained with ethidium bromide. Frequency of L allele was found to be much higher in IPAH (0.538) as compared to controls (0.335). The LL and LS genotypes were found to be at an higher risk for IPAH as compared to SS genotype (OR - 3.117, CI -1.293 7.579 and OR- 5.250, CI- 2.186 - 12.776). The mPASP (mean pulmonary artery systolic pressure) was also significantly higher among the LL and LS genotypes when compared to the SS genotype in IPAH patients.The L allele could be a possible risk factor for IPAH and play a significant role in disease progression. © Kamla-Raj 2011.
Tamaki F.K.,University of Sao Paulo |
Tamaki F.K.,The Institute of Medical science |
Araujo E.M.,University of Sao Paulo |
Rozenberg R.,University of Sao Paulo |
Marana S.R.,University of Sao Paulo
Biochemistry and Biophysics Reports | Year: 2016
The enzymatic hydrolysis of cellulose and lignocellulosic materials is marked by a rate decrease along the reaction time. Cellobiohydrolase slow dissociation from the substrate and its inhibition by the cellobiose produced are relevant factors associated to the rate decrease. In that sense, addition of β-glucosidases to the enzyme cocktails employed in cellulose enzymatic hydrolysis not only produces glucose as final product but also reduces the cellobiohydrolase inhibition by cellobiose. The digestive β-glucosidase GH1 from the fall armyworm Spodoptera frugiperda, hereafter called Sfβgly, containing the mutation L428V showed an increased kcat for cellobiose hydrolysis. In comparison to assays conducted with the wild-type Sfβgly and cellobiohydrolase TrCel7A, the presence of the mutant L428V increased in 5 fold the initial rate of crystalline cellulose hydrolysis and reduced to one quarter the time needed to TrCel7A produce the maximum glucose yield. As our results show that mutant L428V complement the action of TrCel7A, the introduction of the equivalent replacement in β-glucosidases is a promising strategy to reduce costs in the enzymatic hydrolysis of lignocellulosic materials. © 2016 The Authors.
Yamamoto S.,University of Tokyo |
Tateishi K.,University of Tokyo |
Kudo Y.,University of Tokyo |
Yamamoto K.,University of Tokyo |
And 11 more authors.
Carcinogenesis | Year: 2013
Alterations in genes coding for histone modifiers are found in human cancers, suggesting that histone modification is involved in malignant features of neoplastic cells. This study showed that a histone demethylase KDM4C is significant for colonosphere formation by mediating the cross talk between oncogenic pathways through a feed-forward mechanism. The expression of KDM4C gene was increased in spheres from colorectal cancer (CRC) cells and the knockdown (KD) of KDM4C eliminated colonosphere formation. We found that the KD of β-catenin, an important oncogenic factor in CRC, resulted in not only decreased sphere formation but also impaired upregulation of KDM4C gene in spheres. β-Catenin bound to the KDM4C promoter, suggesting that KDM4C is involved in the sphere-forming ability downstream of β-catenin in CRC cells. Microarray analysis identified the JAG1 gene that codes for a notch ligand Jagged1 responsible for sphere formation as a target of KDM4C. KDM4C KD decreased the expression of JAG1 gene, and the downregulation of JAG1 gene recapitulated the impaired colonosphere formation. JAG1 is also a target of β-catenin, and chromatin immunoprecipitation analysis showed the binding of β-catenin and KDM4C onto the JAG1 promoter during colonosphere formation. Importantly, KDM4C KD ruined the recruitment of β-catenin onto the JAG1 promoter independently of the H3-K9 methylation status and blunted JAG1 expression during sphere formation. These data indicate that KDM4C maintains the sphere-forming capacity in CRCs by mediating the β-catenin-dependent transcription of JAG1 in a feed-forward manner. © The Author 2013.