scholarly journals Trisomy 11 as an Additional Chromosome Alteration in a Child with Acute Promyelocytic Leukemia with Poor Prognosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Elenice Ferreira Bastos ◽  
Lidiane Alice Silva ◽  
Marcelo Coelho Ramos ◽  
Glicínia Pimenta ◽  
Paulo Ivo Cortez ◽  
...  

The prognostic significance of the additional abnormalities to the t(15; 17) remains controversial. We report a case of promyelocytic leukemia (APL) in a ten-year-old boy. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample obtained at diagnosis revealed the presence of trisomy of chromosome 11 as an additional chromosomal abnormality to the t(15; 17). The presence of the translocation t(15; 17), the cytogenetic marker of APL, is usually associated with good response to treatment with ATRA. In this case, although the patient had risk factors associated with good prognosis, he evolved and died quickly. So it seems that the presence of the trisomy 11 may be associated with disease progression and the poor outcome. To our knowledge, this is the first reported case of t(15; 17) associated with trisomy of chromosome 11 in a child with APL.

1997 ◽  
Vol 15 (5) ◽  
pp. 1786-1795 ◽  
Author(s):  
J L Slack ◽  
D C Arthur ◽  
D Lawrence ◽  
K Mrózek ◽  
R J Mayer ◽  
...  

PURPOSE To examine, in newly diagnosed patients with acute promyelocytic leukemia (APL), the prognostic significance of secondary cytogenetic changes and the relationship between such changes and the two major promyelocytic leukemia-retinoic acid receptor alpha (PML-RAR alpha) mRNA types. PATIENTS AND METHODS One hundred sixty-one patients with t(15;17)(q22;q11-12) enrolled onto Cancer and Leukemia Group B (CALGB) protocol 8461, a prospective study of cytogenetics in acute myeloid leukemia (AML), were studied. Eighty of these 161 patients were treated solely with chemotherapy and evaluated for response to treatment and survival. PML-RAR alpha mRNA type was determined using reverse transcriptase polymerase chain reaction (RT-PCR) in 56 patients. RESULTS The incidence of secondary cytogenetic abnormalities was 32%. Among 80 patients treated with chemotherapy, the presence of a secondary chromosome abnormality was associated with longer complete remission (CR) duration (median, 29.9 v 15.7 months; P = .03) and longer event-free survival (EFS) duration (median, 17.0 v 12.2 months; P = .03). There was no difference in overall survival (P = .28). In a separate group of 56 patients with both cytogenetic and molecular data, 32 had the type L PML-RAR alpha transcript (intron 6 PML breakpoint). Of these 32 patients, four (12.5%) had chromosome changes in addition to t(15;17), whereas 12 of 20 patients (60%) with the type 5 PML-RAR alpha transcript (intron 3 PML breakpoint) had secondary cytogenetic changes (P < .001). CONCLUSION (1) Secondary cytogenetic changes do not confer a poor prognosis in APL patients treated with anthracycline/cytarabine (Ara-C)-based chemotherapy; and (2) A highly significant relationship exists between the PML-RAR alpha 5 isoform (intron 3 PML genomic breakpoint) and secondary cytogenetic changes in APL.


Healthcare ◽  
2021 ◽  
Vol 9 (4) ◽  
pp. 391
Author(s):  
Junhee Ahn ◽  
Youngran Yang

(1) Background: Glycemic control is an effective way to reduce the cardiovascular complications of diabetes. The purpose of this study was to identify the factors associated with poor glycemic control amongst rural residents with diabetes in Korea. (2) Methods: This cross-sectional analysis was conducted amongst a total of 522 participants who had completed baseline health examinations for the Korean Genome and Epidemiology Study (KoGES) Rural Cohort from 2005 to 2011. The subjects were divided into two groups: the good glycemic control group (GCG) (glycosylated hemoglobin (HbA1C) < 7%) and the poor GCG (HbA1C ≥ 7%). Logistic regression was used to examine the role of sociodemographics, health-related behavior, comorbidity and diabetes-related and clinical factors in poor glycemic control amongst rural residents with diabetes. (3) Results: In total, 48.1% of participants were in the poor GCG. Poor GCG was significantly associated with drinking (odds ratio (OR) = 0.42, 95% CI = 0.24–0.71), lack of regular physical activity (OR = 1.68, 95% CI = 1.03–2.76), fasting blood glucose (FBG) > 130 mg/dL (OR = 7.80, 95% CI = 4.35–13.98), diabetes for > 7 years (OR = 1.79, 95% CI = 1.08–2.98), cholesterol ≥ 200 mg/dL (OR = 1.73, 95% CI = 1.05–2.84) and positive urine glucose (OR = 6.24, 95% CI = 1.32–29.44). (4) Conclusion: Intensive glucose control interventions should target individuals amongst rural residents with diabetes who do not engage in regular physical activity, have been diagnosed with diabetes for more than seven years and who have high fasting-blood glucose, high cholesterol levels and glucose-positive urine.


2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Ann Rita Halvorsen ◽  
Gunnar Kristensen ◽  
Andy Embleton ◽  
Cybil Adusei ◽  
Maria Pilar Barretina-Ginesta ◽  
...  

Ovarian cancer patients are recognized with poor prognosis. This study aimed to identify microRNAs in plasma for predicting response to treatment and outcome. We have investigated microRNAs in plasma from ovarian cancer patients enrolled in a large multicenter study (ICON7), investigating the effect of adding bevacizumab to standard chemotherapy in patients diagnosed with epithelial ovarian cancer. Patients with different histology, grade, and FIGO stages were included (n=207) in this study. Screening of 754 unique microRNAs was performed in the discovery phase (n=91) using TaqMan Low Density Arrays. The results were validated using single assays and RT-qPCR. Low levels of miR-200b, miR-1274A (tRNALys5), and miR-141 were significantly associated with better survival, confirmed with log-rank test in the validation set. The level of miR-1274A (tRNALys5) correlated with outcome was especially pronounced in the high-grade serous tumors. Interestingly, low level of miR-200c was associated with 5-month prolongation of PFS when treated with bevacizumab compared to standard chemotherapy. We found prognostic significance of miR-200b, miR-141, and miR-1274A (tRNALys5) in all histological types, where miR-1274A (tRNALys5) may be a specific marker in high-grade serous tumors. The level of miR-200c may be predictive of effect of treatment with bevacizumab. However, this needs further validation.


2000 ◽  
Vol 25 (1) ◽  
pp. 65-69 ◽  
Author(s):  
N. R. M. KAY

The basic anatomy of the first extensor compartment is presented with a review of the pathology of de Quervain’s stenosing tenovaginitis. The results in 100 medicolegal cases of de Quervain’s disease are analysed and reasons are sought for the poor results. A review of the known factors associated with the causation of de Quervain’s disease is presented with recommendations about the management of this condition.


2020 ◽  
Vol 36 (5) ◽  
Author(s):  
Na Cui ◽  
Zhanbiao Yu ◽  
Zhi Chen ◽  
Ning Chen

Objective: To explore the correlation of procalcitonin (PCT) and gelsolin (GSN) with the prognosis of urosepsis patients. Method: The data of 71 urosepsis patients from March 2015 to April 2019 who were admitted to and treated in Affiliated Hospital of Hebei University were analyzed and compared with those of 92 healthy persons. Serum PCT and plasma GSN levels at different times after treatment were detected. According to prognosis, patients were classified into the good prognosis group or the poor prognosis group. The serum PCT and plasma GSN levels of both groups were compared. Result: The serum PCT level of the urosepsis group on the 1st, 3rd, 5th and 7th days was obviously higher than that of the control group (P<0.05). The plasma GSN levels of the urosepsis group on the 1st, 3rd, 5th and 7th days were obviously lower than those of the control group (P<0.05).The serum PCT level of the poor prognosis group on the 1st, 3rd, 5th and 7th days was obviously higher than that of the good prognosis group (P<0.05). The plasma GSN level of the poor prognosis group on the 1st, 3rd, 5th and 7th days was obviously lower than that of the good prognosis group (P<0.05). PCT was an independent risk factor influencing the prognosis of urosepsis patients and that GSN was a protective factor (P<0.05). Conclusion: The serum PCT and plasma GSN levels can accurately predict the severity and prognosis of urosepsis patients and reflect the disease state of early urosepsis patients. High PCT levels and low GSN levels indicate poor prognosis, and clinicians should consider these values. doi: https://doi.org/10.12669/pjms.36.5.2143 How to cite this:Cui N, Yu Z, Chen Z, Chen N. Research on the Correlation of Serum PCT and Plasma GSN Levels with the Prognosis of Urosepsis Patients. Pak J Med Sci. 2020;36(5):---------. doi: https://doi.org/10.12669/pjms.36.5.2143 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


2021 ◽  

Background Traumatic brain injury (TBI) seriously affects the quality of life of patients. The present study evaluated the role of diffusion tensor imaging (DTI) combined with Neuron-Specific Enolase (NSE) and S100 calcium-binding protein B (S100B) protein in predicting the prognosis of moderate and severe TBI. Methods The TBI patients were divided into moderate TBI (TBIm) and severe TBI (TBIs) groups according to the Glasgow Coma Scale (GCS) after admission. The patients were then divided into good and poor prognosis groups according to the Glasgow Outcome Scale (GOS); moreover, their follow-ups were recorded at 3 and 6 months after injury. This study also included 65 healthy individuals with matched age and gender as the control group. The fractional anisotropy (FA) values of DTI, serum neuron-specific enolase (NSE), and S100B protein levels were detected in this study. The data were analyzed in SPSS software (version 22.0) to evaluate the role of DTI combined with NSE and S100B protein in predicting the prognosis in TBIm and TBIs. Results: After TBI, the FA values of DTI in the TBI group were lower than those in the control group (P<0.05); moreover, the serum NSE and S100B values in the TBI group were higher than those in the control group (P<0.05). In the TBIm patients, the FA values of the corpus callosum in the good prognosis group were higher than that in the poor prognosis group (P<0.05); however, there was no significant difference between the two groups regarding the FA values of the internal capsule and the cerebral peduncle (P>0.05). The serum levels of NSE and S100B in the good prognosis group were significantly lower than those in the poor prognosis group (P<0.05). In the TBIs patients, the FA value of all areas in the good prognosis group was significantly higher than that in the poor prognosis group (P<0.05). However, there was no significant difference between the two prognosis groups regarding the serum levels of NSE and S100B (P>0.05). Conclusion Although DTI combined with NSE and S100B protein can effectively predict the prognosis of patients with moderate and severe TBI in the early stages, various other measures have been used in the studies to predict the prognosis of TBI patients. Accordingly, comparison with other measures is essential in further studies.


2019 ◽  
Vol 50 (3) ◽  
pp. e36-e41
Author(s):  
Narges Ansari ◽  
Saeid Shahrabi ◽  
Abbas Khosravi ◽  
Reza Shirzad ◽  
Hadi Rezaeean

Abstract Breast cancer (BC) is one of the most common cancers among women; genetic mutations reflect the development of this disease. Mutations in cell signaling factors can be the main cause of BC development. In this study, we focused on mutations in checkpoint kinase 2 (CHEK2) and their impact as a prognostic factor in the pathogenesis of BC. CHEK2 is controlled in cell signaling pathways through the influence of upstream genes. Also, several downstream genes are regulated by CHEK2. In addition, mutations in CHEK2 lead to resistance of BC cells to chemotherapy and metastasis of cancer cells to other parts of the body. Finally, detection of mutations in CHEK2 can be used as a prognostic factor for patient response to treatment and for targeting downstream molecules of CHEK2 that are involved in the proliferation of breast tumor cells. Mutations such as c.1100delC and I157T can distinguish which patients are susceptible to metastasis.


2019 ◽  
Vol 9 (1) ◽  
pp. 7
Author(s):  
Rasha Haggag ◽  
Naglaa A. Mostafa ◽  
Marwa Nabil ◽  
Hala A. Shokralla ◽  
Neveen F. H. Sidhom

Background: The aim of this study was to investigate the prognostic role of mammalian target of Rapamycin (mTOR) and C-X-C chemokine receptor type 4 (CXCR4) in diffuse large-B-cell lymphoma (DLBCL) patients.Patients and methods: This retrospective study was collected data from 64 de novo DLBCL patients, who received standardized R-CHOP therapy at two oncology centers. CXCR4 and mTOR expressions were assessed by immunohistochemistry.Results: Out of the 64 DLBCL patients, 40 patients were positive for CXCR4 (62.5%) and 35 patients for mTOR (54.7%) expressions. CXCR4 expression was positively correlated with mTOR expression (r = 0.7; p < .001). While mTOR expression was significantly associated with high lactate dehydrogenase level (p = .03) and number of extranodal sites one or more (p =.02), CXCR4 expression was significantly associated with high IPI score (p < .001) and ECOG PS (p = .005). Furthermore, theexpression levels of mTOR and CXCR4 were significantly associated with older ages and poor response to treatment (p = .04, <.001 and .04, .03, respectively). After a median Follow up of 22 months, mean ± SD overall survival (OS) was 65.391 ± 4.705. Kaplan–Meier analysis showed that patients positive for mTOR and CXCR4 expression had shorter DFS (p = .01 & .02) and OS (p = .02 & .04). Multivariate analysis showed that CXCR4 and mTOR positivity is an independent prognostic factor for significantly poorer DFS (p = .03, and .02 respectively) but not for OS (p = .09 and .08 respectively) in the DLBCL pateints.Conclusion: Our results indicate that the expression of CXCR4 and mTOR may be poor prognostic biomarkers in DLBCL.


2013 ◽  
Vol 03 (04) ◽  
pp. 137-138
Author(s):  
Harish S. Permi

AbstractOsseous metaplasia is a rare histologic feature associated with renal cell carcinoma, occurring in a contracted kidney is still rarer. Metaplastic bone formation within the renal tumor gives an appearance similar to that of calcification. It is difficult to distinguish between bone formation and calcification on the basis of radiological imaging alone. Prognostic significance of metaplastic bone formation in renal cell carcinoma is not clear, however some report suggest good prognosis as a result of limitation of tumor spread by bone formation. This case report highlights the occurrence of renal cell carcinoma with osseous metaplasia in a contracted kidney.


2019 ◽  
Vol 20 (19) ◽  
pp. 4753 ◽  
Author(s):  
Aline Hajj ◽  
Sahar Obeid ◽  
Saria Sahyoun ◽  
Chadia Haddad ◽  
Jocelyne Azar ◽  
...  

Objectives: To assess clinical and genetic factors affecting response to treatment in a sample of patients with schizophrenia (treatment-resistant patients versus treatment responders). We also aimed at examining if these factors are different when we consider two different resistance classifications (the positive and negative syndrome scale, PANSS and the brief psychiatric rating scale, BPRS). Material and Methods: A case-control study included treatment-resistant patients and good responders. Patients were stratified in two groups based on the established criteria for treatment-resistant schizophrenia using BPRS and PANSS. The study was approved by the ethical committees (references: CEHDF1017; HPC-017-2017) and all patients/legal representatives gave their written consent. Clinical factors were assessed. DNA was obtained using a buccal swab and genotyping for OPRM1, COMT, DRD2 et MTHFR genes using the Lightcycler® (Roche). Results: Some discrepancies between the BPRS and PANSS definitions were noted in our study when assessing the patients’ psychopathological symptoms and response to treatment. The multivariable analysis, taking the presence versus absence of treatment resistance as the dependent variable, showed that that family history of schizophrenia, university studies, time since the beginning of treatment and chlorpromazine equivalent dose as well as the COMT gene are associated with resistance to treatment. In addition, a gender-related difference was noted for COMT SNP; men with at least one Met allele were more prone to be resistant to treatment than Val/Val patients. Conclusion: Uncovering the clinical and genetic factors associated with resistance to treatment could help us better treat our schizophrenic patients in a concept of personalized medicine.


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