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Heterogeneous Entity (heterogeneous + entity)
Selected AbstractsDetection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepitheliomaGENES, CHROMOSOMES AND CANCER, Issue 7 2008Petter Brandal Chromosome banding as well as molecular cytogenetic methods are of great help in the diagnosis of mesenchymal tumors. Myoepithelial neoplasms of soft tissue including myoepitheliomas, mixed tumors, and parachordomas are diagnoses that have been increasingly recognized the last few years. It is still debated which neoplasms should be included in these morphologically heterogeneous entities, and the boundaries between them are not clear-cut. The pathogenetic mechanisms behind myoepithelial tumors are unknown. Only five parachordomas and one mixed tumor have previously been karyotyped, and nothing is known about their molecular genetic characteristics. We present a mesenchymal tumor classified as a myoepithelioma that had a balanced translocation t(1;22)(q23;q12) as the sole karyotypic change. A novel EWSR1-PBX1 fusion gene consisting of exons 1,8 of the 5,-end of EWSR1 and exons 5,9 of the 3,-end of PBX1 was shown to result from the translocation. Both genes are known to be targeted also by other neoplasia-specific translocations, PBX1 in acute lymphoblastic leukemia and EWSR1 in several solid tumors, most of which are malignant. Based on the structure of the novel fusion gene detected, its transforming mechanism is thought to be the same as for other fusion genes involving EWSR1 or PBX1. © 2008 Wiley-Liss, Inc. [source] Classification conundrums in paroxysmal dyskinesias: A new subtype or variations on classic themes?MOVEMENT DISORDERS, Issue 8 2005Michael H. Pourfar MD Abstract Paroxysmal movement disorders are a group of heterogeneous entities that have been categorized based on their most salient features. The four classic categories of paroxysmal dyskinesias are kinesigenic, nonkinesigenic, hypnogenic, and exercise-induced. The phenotypic variability of these disorders, coupled with new insights into their possible etiologies, has made the task of classification increasingly problematic. We describe 4 cases that do not fit easily into the current classification scheme, compare them with four others recently described in the literature, and raise the question as to whether they constitute a new subtype. © 2005 Movement Disorder Society [source] Sounding board: diabetes mellitus in the elderly: a truly heterogeneous entity?DIABETES OBESITY & METABOLISM, Issue 2 2003Sanjay Ratnakant First page of article [source] Correlation between NT-pro BNP Levels and Early Mitral Annulus Velocity (E,) in Patients with Non,ST-Segment Elevation Acute Coronary SyndromeECHOCARDIOGRAPHY, Issue 4 2008Marcia M. Barbosa M.D., Ph.D. Acute coronary syndromes in the absence of ST-segment elevation (NSTE-ACS) are a heterogeneous entity in which early risk stratification is essential. Diastolic dysfunction is precocious and associated with poor prognosis. BNP has been recognized as a biochemical marker of ventricular dysfunction and ischemia. Objective: To investigate if there is correlation of NT pro-BNP levels with diastolic dysfunction in patients with NSTE-ACS. Methods: Fifty-two patients with NSTE-ACS admitted to the coronary unit were included. NT-pro brain natriuretic hormone (BNP) levels and a Doppler echocardiogram were obtained in all and systolic and diastolic functions were analyzed. Their Doppler indexes were compared with those of 53 age- and sex-matched controls, without heart failure symptoms and with normal ejection fraction (EF) and normal NT-pro BNP levels. Results: Twenty-four patients (46%) with unstable angina and 28 patients (54%) with acute myocardial infarction (AMI) were included. Mean EF was 55.9 ± 10.7% and mean NT-pro BNP level was 835 ± 989 pg/ml. No mitral or pulmonary venous flow parameters of diastolic function correlated with NT-pro BNP levels. E,/A, correlated with NT-pro BNP level in univariate analysis but, in a multivariate analysis, only the EF and the E, showed negative correlation with the peptide level (r =,0.33, P = 0.024 and r =,0.29, P = 0.045, respectively). Thirteen patients presented with stage II diastolic dysfunction but the NT-pro BNP level in these patients did not differ from the level in stage I patients. Conclusion: NT-pro BNP levels are elevated in acute coronary syndromes, even in the absence of significant necrosis. Of all echocardiographic parameters investigated, only E, and the EF correlated with the levels of NT-pro BNP in this group of patients. [source] Missed bipolarity and psychiatric comorbidity in women with postpartum depressionBIPOLAR DISORDERS, Issue 6 2008Verinder Sharma Objective:, To investigate the diagnostic profile of women referred for postpartum depression. Methods:, Fifty-six women seen consecutively with the referral diagnosis of postpartum depression were administered structured instruments to gather information about their DSM-IV Axis I diagnoses. Results:, In terms of frequency of occurrence, the primary diagnoses in this sample were: major depressive disorder (46%), bipolar disorder not otherwise specified (29%), bipolar II disorder (23%), and bipolar I disorder (2%). A current comorbid disorder, with no lifetime comorbidity, occurred among 32% of the sample; by contrast, lifetime comorbidity alone (i.e., with no currently comorbid disorder) was found among 27%. Both a lifetime and a current comorbidity were found among 18% of the women, and 23% had no comorbid disorder. The most frequently occurring current comorbid disorder was an anxiety disorder (46%), with obsessive-compulsive disorder (62%) being the most common type of anxiety disorder. For lifetime comorbidity, substance use (20%) and anxiety disorders (12%) were the two most common. Over 80% of patients who scored positive on either the Highs Scale or the Mood Disorder Questionnaire met the diagnostic criteria for a bipolar disorder. Conclusion:, The results suggest that postpartum depression is a heterogeneous entity and that misdiagnosis of bipolar disorder in the postpartum period may be quite common. The findings have important clinical implications, which include the need for early detection of bipolarity through the use of reliable and valid assessment instruments, and implementation of appropriate prevention and treatment strategies. [source] Survival outcomes for clonal evolution in chronic myeloid leukemia patients on second generation tyrosine kinase inhibitor therapy,CANCER, Issue 11 2010Dushyant Verma MD Abstract BACKGROUND: Clonal evolution is frequently detected in patients developing resistance to imatinib. The outcome of patients with clonal evolution treated with second generation tyrosine kinase inhibitors is not known. METHODS: The authors analyzed the outcome of 177 CML patients after second tyrosine kinase inhibitor therapy. RESULTS: Ninety-five patients were in chronic phase, 30 had clonal evolution, 28 were in accelerated phase (AP), and 24 were in AP plus clonal evolution. Major cytogenetic response rates were 58%, 54%, 28%, and 13%; 2-year overall survival (OS) rates were 86%, 73%, 68%, and 33%; and 2-year event-free survival (EFS) rates were 69%, 67%, 31%, and 8%, respectively. The hematologic and cytogenetic response rates, OS, and EFS were no different between patients in chronic phase with clonal evolution and patients with chronic phase and no clonal evolution. However, clonal evolution had a significant adverse impact when associated with other features of AP. On multivariate analysis, clonal evolution had no independently significant effect on achieving major cytogenetic response on the second generation tyrosine kinase inhibitors. The factors predicting increasing major cytogenetic response to second generation tyrosine kinase inhibitors were prior achievement of major cytogenetic response with imatinib, higher hemoglobin levels, no splenomegaly, lower percentage of Philadelphia chromosome-positive metaphases, and no prior chemotherapy. CONCLUSIONS: Clonal evolution constitutes a heterogeneous entity with variable outcome with second generation tyrosine kinase inhibitors, with trisomy 8, chromosome 17, and complex abnormalities having the worst outcome, regardless of the number of metaphases involved. The molecular events behind these abnormalities and potential therapeutic approaches directed at them need to be defined. Cancer 2010. © 2010 American Cancer Society. [source] | ||||||||||