Fertility Recovery Following Allogeneic Bone Marrow Transplantation in Aplastic Anemia; A Study of 157 Patients

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4783-4783
Author(s):  
Feras Alfraih ◽  
Shad Ahmed ◽  
Dennis Dong Hwan Kim ◽  
Walid Rasheed ◽  
Ghuzayel Aldawsari ◽  
...  

Abstract Introduction : Infertility is a major late effect of hematopoietic stem cell transplants (HSCT). In aplastic anemia (AA) patients, although the fertility recovery rate is relatively higher than other diseases but the exact incidence and risk factors are not very well studied. In this study, we attempted to evaluate incidence and the impact of patientÕs characteristics and transplantation procedures on fertility recovery following allogeneic HSCT for adolescent and adults patients with AA. Methods : A total of 157 patients who were at least 14 years old with AA receiving HSCT between year 1987 and 2014 at our center were reviewed. Patients who survived at least 2 years following HSCT and either married or in relationship were included in the analysis and evaluated for fertility following HSCT. 87 patients were eligible for the study. Questionnaire survey and long-term charts were used for data collection. With a response rate and or available information of 63% patients, 55 patients were identified and stratified into fertility recovery (FR+) versus non-fertility recovery (FR-) group. Fertility recovery was defined by a pregnancy of the patient or his partner. Results: Median age for all patients is 23 years (range, 14 -50), 44% (n=24) between 14-20 years old, 51% (n=28) between age 20-40 years and 5% (n=3) > 40 years. 51% (n=28) were females. Matched related donor was used for majority of patients 96% (n=53). GVHD prophylaxis was CSA/MTX for 93% (n=51,). Conditioning regimen was Cyclophosphamide/Flu in 25 (45%), Cyclophosphamide /ATG in 18 patients (35%) and others in 12 patients (20%). Bone marrow was the source of stem cells for 52 patients (94%). A median follow-up of 8 years for survivors (range, 0.3 -23) showed 45 patients (82%) had FR+ while 10 patients (18%) were FR-. Median duration of fertility recovery (from delivery to BMT) was 6 years (range, 0.8-19) with significant difference based on age groups, 4 years for patients 20-40 years (n=29, 53%) versus 8 years for those < 20 years (n=24, 44%), (p=0.002), (Figure 1). None of the patients >40 years old (n=2, 4%) had fertility recovery. Comparison based on gender showed no significant difference. Males had a median duration of fertility recovery of 5.9 years, (range 0.6-14.9) versus 6.2 years, (range, 0.8-15.2) (p=0.31) females. The overall median number of pregnancies was 2 (range, 1-6). For males, it was 2 (range, 1-6) while 1.5 (range, 1-5) for females (p=0.26). Deliveries occurred in natural ways in (95%) while C-section for (5%). All deliveries were without fetal abnormalities. Univariate analysis of risk factors for fertility recovery showed age group (p=0.03) and chronic GVHD (p=0.05) are important factors. Neither gender of patients or type of preparative regimens used for HSCT (Cyclo/ATG vs Cyclo/Flu) was a risk factor. In multivariate analysis, age group was the only confirmed an independent risk factor for fertility recovery (p=0.02) [HR= 2.02, CI=1.012-3.64). Conclusion: The present study suggested that the incidence of fertility recovery following HSCT for patients with aplastic anemia is high with no significant differences between males and females. Patients between the ages of 20-40 years at the time of HSCT have significantly shorter recovery period. Age was the only independent risk factor for fertility recovery while there was no impact of whether ATG or Fludarabine was used in addition to Cyclophosphamide as preparative regimen. Figure 1. Figure 1. Disclosures Kim: Bristol-Myers Squibb: Consultancy, Research Funding; Novartis Pharmaceuticals: Consultancy, Research Funding.

2007 ◽  
Vol 28 (9) ◽  
pp. 1054-1059 ◽  
Author(s):  
G. Ghanem ◽  
R. Hachem ◽  
Y. Jiang ◽  
R. F. Chemaly ◽  
I. Raad

Objective.Vancomycin-resistant enterococci (VRE) are a major cause of nosocomial infection. We sought to compare vancomycin-resistant (VR)Enterococcus faecalisbacteremia and VREnterococcus faeciumbacteremia in cancer patients with respect to risk factors, clinical presentation, microbiological characteristics, antimicrobial therapy, and outcomes.Methods.We identified 210 cancer patients with VRE bacteremia who had been treated between January 1996 and December 2004; 16 of these 210 had VRE. faecalisbacteremia and were matched with 32 patients with VRE. faeciumbacteremia and 32 control patients. A retrospective review of medical records was conducted.Results.Logistic regression analysis showed that, compared with VRE. faecalisbacteremia, VRE. faeciumbacteremia was associated with a worse clinical response to therapy (odds ratio [OR], 0.3 [95% confidence interval (CI), 0.07-0.98];P= .046) and a higher overall mortality rate (OR, 8.3 [95% CI, 1.9-35.3];P= .004), but the VRE-related mortality rate did not show a statistically significant difference (OR, 6.8 [95% CI, 0.7-61.8];P= .09). Compared with control patients, patients with VRE. faecalisbacteremia were more likely to have received an aminoglycoside in the 30 days before the onset of bacteremia (OR, 5.8 [95% CI, 1.2-27.6];P= .03), whereas patients with VRE. faeciumbacteremia were more likely to have received a carbapenem in the 30 days before the onset of bacteremia (OR, 11.7 [95% CI, 3.6-38.6];P<.001). In a multivariate model that compared patients with VRE. faeciumbacteremia and control patients, predictors of mortality included acute renal failure on presentation (OR, 15.1 [95% CI, 2.3-99.2];P= .004) and VRE. faeciumbacteremia (OR, 11 [95% CI, 2.7-45.1];P<.001). No difference in outcomes was found between patients with VRE. faecalisbacteremia and control patients.Conclusions.VRE. faeciumbacteremia in cancer patients was associated with a poorer outcome than was VRE. faecalisbacteremia. Recent receipt of carbapenem therapy was an independent risk factor for VRE. faeciumbacteremia, and recent receipt of aminoglycoside therapy was independent risk factor forE. faecalisbacteremia.


2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e15171-e15171
Author(s):  
Kiyofumi Shimoji ◽  
Takeshi Masuda ◽  
Yu Nakanishi ◽  
Kakuhiro Yamaguchi ◽  
Shinjiro Sakamoto ◽  
...  

e15171 Background: Immune check point inhibitor (ICI) induced interstitial lung disease (ICI-ILD) is a clinically serious and life-threatening toxicity. Pre-existing ILD has been reported to be a risk factor for ICI-ILD in patients with non-small cell lung cancer (NSCLC). In addition, we have previously reported that interstitial lung abnormality (ILA) is also a risk factor for the ICI-ILD. Therefore, we investigated whether any patient characteristics, including ILA, were risk factors for ICI-ILD in patients with non-NSCLC cancers. Methods: Head and neck cancer, malignant melanoma, oral cavity cancer, renal cell carcinoma or gastric cancer patients who received anti PD-1 antibody (Nivolumab or Pembrolizumab) at Hiroshima University Hospital from December 2015 to May 2019 were enrolled. Information on patient characteristics before anti-PD-1 antibody administration, including chest CT findings and laboratory data, were obtained. Results: Two hundred patients were enrolled, and 20 (10%) developed ICI-ILD. Grade1 was observed in 15 patients, grade2 in 3, and grade3 and 5 in 1. There was no significant difference in the background factors between patients with and without ICI-ILD. On the other hand, the proportion of patients with ILA was significantly higher in the patients with ICI-ILD than those without (P < 0.01). Furthermore, univariate logistic regression analysis revealed ILA was the risk factor for ICI-ILD (p < 0.01), and multivariate logistic regression analysis showed that GGA or reticulation in ILA was an independent risk factor for ICI-ILD (p = 0.016, 0.011). Conclusions: Pre-existing ILA is a risk factor for ICI-ILD, and GGA or reticulation in ILA is an independent risk factor for ICI-ILD in patients with non-NSCLC cancers. Therefore, we should pay more attention to the development of ICI-ILD in patients with ILA, especially GGA or reticulation.


Author(s):  
Mitsuhiro Kinoshita ◽  
Shoichiro Takao ◽  
Junichiro Hiraoka ◽  
Katsuya Takechi ◽  
Yoko Akagawa ◽  
...  

Abstract Purpose To evaluate the risk factors for unsuccessful removal of a central venous access port (CV port) implanted in the forearm of adult oncologic patients. Materials and methods This study included 97 adult oncologic patients (51 males, 46 females; age range, 30–88 years; mean age, 63.7 years) in whom removal of a CV port implanted in the forearm was attempted at our hospital between January 2015 and May 2021. Gender, age at removal, body mass index, and diagnosis were examined as patient characteristics; and indwelling period, indwelling side, and indication for removal were examined as factors associated with removal of a CV port. These variables were compared between successful and unsuccessful cases using univariate analysis. Then, multivariate analysis was performed to identify independent risk factors for unsuccessful removal of a CV port using variables with a significant difference in the univariate analysis. A receiver-operating characteristics (ROC) curve was drawn for significant risk factors in the multivariate analysis and the Youden index was used to determine the optimum cut-off value for predicting unsuccessful removal of a CV port. Results Removal of CV ports was successful in 79 cases (81.4%), but unsuccessful in 18 cases (18.6%) due to fixation of the catheter to the vessel wall. Multivariate logistic regression analysis showed that the indwelling period (odds ratio 1.048; 95% confidence interval 1.026–1.070; P < 0.0001) was a significant independent risk factor for unsuccessful removal of a CV port. ROC analysis showed that the cut-off value for successful removal was 41 months, and 54% of cases with an indwelling period > 60 months had unsuccessful removal. Conclusion The indwelling period is an independent risk factor for unsuccessful removal of a CV port implanted in the forearm of adult oncologic patients, with a cut-off of 41 months.


Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 707-707
Author(s):  
Maria E Figueroa ◽  
Sanne Lugthart ◽  
Yushan Li ◽  
Claudia Erpelinck-Verschueren ◽  
Xutao Deng ◽  
...  

Abstract Abstract 707 Epigenetic deregulation of genes through aberrant DNA methylation has been widely reported in cancer. We hypothesized that in AML this aberrant DNA methylation does not occur randomly, but rather occurs in specific and distinct patterns. Therefore, large-scale genome-wide analysis of the DNA methylome could help explain and define the complexity underlying leukemia biology and reveal the existence of epigenetically defined variants of AML. Using the HELP microarray assay, which measures DNA methylation at 50,000 CpG sites annotated to ∼14,000 promoters, we obtained DNA methylation profiles for 344 AML patients seen at Erasmus University Medical Center. Median follow-up based on survivors was 18.2 months (7-215); median age: 48 years (15-77). Unsupervised analysis (hierarchical clustering, correlation distance with Ward's clustering method) demonstrated that based on their methylation profiles AML patients distributed into 16 cohorts. 11 of these groups were also defined by the presence of specific molecular lesions: inv(16) [cluster 1], t(8;21) [cluster 3], t(15;17) [cluster 6], CEBPA-mutant [clusters 4 and 9], CEBPA-silenced [cluster 10] NPM1-mutant [clusters 12, 13, 14 and 16] and 11q23 abnormalities [cluster 11]. Enrichment for cases harboring a specific molecular lesion within a given cluster was determined using Fisher's exact test (p<0.01). Additionally, 5 new AML subtypes were defined based on epigenetic profiling alone and had no other clinical or molecular feature in common. Kaplan-Meier survival analysis revealed a significant difference in overall survival (OS) between these novel AML subtypes: 2-year OS±SE; 58.8%±8.4% and 45.2%±8.9% for clusters 5 and 7, respectively, vs. 23.6%±5.7%, 26.4%±9.2% and 33.3%±13.6%, for clusters 2, 8 and 15, respectively (log rank test, p=0.04). After adjustment for age, cytogenetic risk, NPM1 and FLT3-ITD status in a multivariate Cox proportional hazards regression model including all the clusters with ≥ 10 patients, 4 of these 5 novel clusters presented a statistically significant increased hazard ratio compared to the favorable risk inv(16) cluster. In contrast, the clinical outcomes of patients in cluster 5 were not significantly different from favorable risk patients with inv(16). In order to identify the genes affected by aberrant DNA methylation for each cluster, we performed a supervised analysis comparing each of the 16 clusters to normal CD34+ bone marrow progenitors (n=8) using ANOVA followed by Dunnet post hoc test, and selected genes with adjusted p values <0.05 and a methylation change >30%. The DNA methylation signatures of each cluster featured involvement of distinct gene networks and DNA regulatory elements, and displayed distinct degrees of hyper or hypomethylation with respect to normal CD34+ bone marrow cells. Of note, in spite of the variation in methylation across the 16 clusters, we identified a set of 45 genes that were almost universally aberrantly methylated (in >70% cases and present in at least 10/16 cluster signatures). This common epigenetic signature included the tumor suppressor PDZD2, the nuclear import proteins IPO8 and TNPO3, PIAS2, a regulator of MAP kinase signaling, CDK8, and CSDA, a regulator of CSF2. Gene expression profiling of the same patients indicated that at least 50% of these genes were also aberrantly silenced compared to normal CD34+ cells. Finally, we randomly divided the 344-patient cohort into a training group of 200 patients, a test group (n=95) and an independent validation group (n=49), and using the Supervised Principal Components algorithm identified a 15-gene methylation classifier that was predictive of OS (p<0.009) and event free survival (p<0.013). Furthermore, after adjustment for age, cytogenetic risk, NPM1, FLT3 and CEBPA status in a multivariate analysis, this classifier remained an independent risk factor for OS (Hazard ratio 1.29, 95% CI: 1.11-1.49; p<0.001). In summary, we have i) demonstrated that unique and distinct DNA methylation patterns characterize distinct forms of AML; ii) identified novel, epigenetically defined subgroups of AML with distinct clinical behavior; iii) revealed the presence of a consistently aberrantly methylated signature across AML subtypes, with confirmed silencing of the genes involved; and iv) report a 15-gene methylation classifier predictive of OS, and confirmed as an independent risk factor when adjusted for known AML covariates. Disclosures: No relevant conflicts of interest to declare.


2021 ◽  
Vol 34 (1) ◽  
pp. 33-39
Author(s):  
Md Amjad Hossain Pramanik ◽  
Achinta Kumar Mallick ◽  
Mukul Kumar Sarkar ◽  
SM Emdadul Haque ◽  
Md Raseul Kabir ◽  
...  

Despite recent advances, only two-third of all strokes can be attributed to known causal risk factors. Homocysteine (tHcy), a sulfur-containing amino acid, is now considered to be an important risk factor for vascular diseases, along with the established risk factors like hyperlipidemia, hypertension, diabetes mellitus, and smoking. Elevated homocysteine levels play a causal role in the pathogenesis of atherosclerosis, thromboembolism and vascular endothelial dysfunction with an increased incidence of ischemic stroke.  This study aimed to find out the association of hyperhomocysteinemia with ischemic stroke. A total of 100 subjects were included in this study, 50 were ischemic stroke patients enrolled as case, and 50 were normal healthy individuals enrolled as control. Serum homocysteine level was measured in both case and control groups. The comparison was made in both groups regarding other common risk factors like diabetes mellitus, hypertension, smoking, dyslipidemia, family history, etc.  Among 100 patients, 50 had ischemic stroke and 50 were healthy individuals. In this study, out of all patients, abnormal serum homocysteine level was found in 32% of cases and 12% of controls. The mean (±SD) serum homocysteine level was found 16.50±13.86 μmole/L in cases and 9.46±3.49 μmole /L in the control group. Significant (p<0.05) difference was found between the case and the control. The incidence of hyperhomocysteinemia is higher in ischemic stroke cases than that in age-sex-matched healthy controls. In our study, serum homocysteine was high in both younger age group patients (16.65±14.55 μmole/L vs. 9.52±3.19 μmole/L) and older age group patients (16.33±9.87 vs. 9.35±3.97 μmole/L,) in case and control group respectively. Significant (p<0.05) difference was found between the case and the control. Multiple logistic regression analysis showed that abnormal serum homocysteine is an independent risk factor of ischemic stroke. So we conclude that hyperhomocysteinemia is an important and independent risk factor for the development of ischemic stroke. Hypertension and smoking are important contributory to elevated serum homocysteine. TAJ 2021; 34: No-1: 33-39


Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4363-4363
Author(s):  
Ana Villalba ◽  
Leonor Senent ◽  
Esther Alonso ◽  
Elvira Mora ◽  
Teresa Bernal Del Castillo ◽  
...  

Abstract Introduction Risk assessment is essential for guiding therapy in patients with myelodysplastic syndromes (MDS). Currently, the most widely used prognostic scoring models are the International Prognostic Scoring System (IPSS) and the revised IPSS (IPSS-R). The prognostic relevance of the percentage of erythroid precursors (EP) in bone marrow (BM) and its relationship with other biological characteristics has been poorly studied, although it has been proposed that a very low percentage of EP in BM may represent a cohort of patients with potentially adverse outcome. Our main aim was to analyze the biological and clinical features of MDS patients according to the percentage of EP in BM at diagnosis and evaluate its prognostic value on survival. Patients and Methods Data from 4,791 de novo MDS patients from the MDS Spanish Registry with available cytogenetics were collected. All patients included were diagnosed based on the 2008 WHO criteria and risk stratification was performed following the IPSS-R. Patients were distributed, according to the percentage of EP in BM, into three groups: less than 15% (EP<15%), between 15% and 49% (EP 15-49%) and equal or more than 50% (EP>49%). Proportions were compared by the Chi-square test. Survival curves were constructed by Kaplan-Meier method and differences between curves were evaluated by log rank tests. Multivariable analysis of survival was performed using Cox's proportional hazards regression model. P-values <0.05 were considered as statistically significant. All statistical analyses were performed by the R software. Results The 4,791 cases were grouped according to the percentage of erythroid cells in BM at diagnosis. In Table 1 are displayed the clinical and biological characteristics of the patients in the whole series and in the three groups based on the EP percentage in BM. The group with EP<15% in BM showed a significantly greater number of cytopenias at diagnosis, a higher number of peripheral blood (PB) and BM blasts, and a higher percentage of patients classified in MDS subtypes with excess blasts. The EP>49% group presented higher rates of patients with refractory anemia with ring sideroblasts (RARS), lower number of PB and BM blasts, and more frequent high-risk cytogenetics. Conversely, the intermediate EP group with EP 15-49% showed less number of cytopenias, higher frequency of good-prognosis cytogenetics, and lower percentage of patients in higher-risk IPSS-R categories. Survival analyses confirmed that age, blast percentage in PB and BM, and IPSS-R cytogenetics are significantly associated with worse survival. A striking difference in survival within groups according to percentage of EP was also found, recognizing EP percentage as an independent risk factor for survival of MDS patients in multivariate analysis. Patients with EP<15% in BM experienced a significantly shorter OS (median, 28 months) in both univariable (P<0.0001) and multivariable analysis (P<0.0001) (Table 2 and Figure 1). The best survival was found for patients with EP 15-49% with a median survival of 58 months. The group with EP>50% in BM had also worse survival than the intermediate group, showing a median survival of 47 months (hazard ratio, 0.79; 95% CI, 0.67 to 0.93; P < 0.005). Conclusions Our study proves the prognostic impact of the percentage of erythroid precursors in bone marrow in MDS patients, providing evidence that the presence of EP <15% in BM is an independent risk factor for survival. Disclosures Díez-Campelo: Celgene: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau; Novartis: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau.


2020 ◽  
Author(s):  
Zhi Zhu ◽  
Ningning Song ◽  
Yoko Kato ◽  
Xi Chen ◽  
Weichao Jiang ◽  
...  

Abstract Objective To investigate risk factors for aneurysm rupture in intracranial aneurysm clipping (IAC). Methods Patients admitted for IAC from April 2010 to December 2017 in the Fujita Health University Hospital or the First Affiliated Hospital of Xiamen University were retrospectively reviewed. Clinical parameters were recorded and analyzed using univariate and multivariate analysis. The Hunt-Hess grade was used to assess the preoperative clinical status of patients. Modified Rankin Scale was applied to evaluate the prognosis of patients 6 months after surgery. Results Univariate analysis showed that the preoperative clinical status ( p = 0.015) and the preoperative aneurysm rupture ( p = 0.005) were significantly associated with intraoperative aneurysm rupture (IAR) during clipping. Multivariate logistic regression analysis showed that the preoperative aneurysm rupture was an independent risk factor of IAR ( p < 0.001, OR = 10.518). There was no significant difference in the prognosis between patients with and without IAR ( p > 0.05). No significant differences existed on aspects of incidences and time points of rupture in the operations conducted by experienced surgeons compared with that conducted by less-experienced surgeons ( p > 0.05). Conclusion Preoperative aneurysm rupture is the independent risk factor for aneurysm rupture during IAC. Intraoperative rupture, if treated properly in time, has no influence on the prognosis of patients receiving IAC. Less-experienced surgeons can also reduce the incidence rate of IAR by strictly controlling surgical indications.


2017 ◽  
Vol 4 (5) ◽  
pp. 1282
Author(s):  
Mahendra Chouhan ◽  
Archana Kansal ◽  
Sushma Trikha ◽  
Mayank Gupta

Background: Fatty liver is associated with several atherosclerotic risk factors such as hypertension, diabetes and dyslipidemia. It has also been related to insulin resistance. This association was found in NIDDM patients as well as in non-diabetic subjects. An increased intima-media thickness (IMT) has been shown to be a risk factor for myocardial infarction and stroke. The aim of the present study is to investigate associations between hepatic steatosis and the risk of atherosclerosis.Methods: The present study was carried out on 88 patients of fatty liver disease and 80 controls in the department of General Medicine. An approximate equal number of age and sex matched persons without fatty liver were selected randomly as controls. Both fatty liver disease patients (i.e NAFLD and AFLD) and control group were further divided into two categories, one with risk factor for atherosclerosis and other without risk factors. Risk factors for atherosclerosis were taken according to ATP III guidelines.Results: When comparison of mean CIMT was done in NAFLD, AFLD and controls in a particular age group, significant difference was found in mean CIMT (both sides) in age group 40-49 yrs (p value 0.03, 0.002 for right and left respectively). The difference was also significant in mean CIMT of right in age group 18-24 yrs (p value 0.015) and in >60 years (p value 0.03). Among, NAFLD patients, for left mean CIMT p value was 0.0001, for right mean CIMT p value was 0.0001. Among AFLD patients, for left mean CIMT p value was 0.006 and for right mean CIMT p value was 0.0022. Only statistically significant difference was found in mean CIMT (left) in grade II fatty liver (p value 0.04). NAFLD and controls without risk factors for atherosclerosis, mean CIMT (both side) in NAFLD was found to be significantly more than control (p value 0.04). AFLD patients and controls without risk factors for atherosclerosis, mean CIMT of both side in AFLD patients was found to be significantly more than controls (p value for left CIMT 0.02 and for right CIMT 0.00001).Conclusions: CIMT was found to increase with advancing age in all three group i.e. NAFLD, AFLD and control group. CIMT was more in patients of fatty liver disease (both NAFLD and AFLD) having risk factor for atherosclerosis as compared to those without risk factors. Both NAFLD and AFLD are associated with increased CIMT in comparison to control group. As such all NAFLD and AFLD patients should be investigated for carotid atherosclerosis, as its early detection and management may be helpful in limiting the inherent complications of atherosclerosis.


Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3902-3902
Author(s):  
Adam Albitar ◽  
Danielle Townsley ◽  
Wanlong Ma ◽  
Ivan De Dios ◽  
Vincent Funari ◽  
...  

Abstract Background:We have reported that peripheral blood cell-free DNA (cfDNA) is reliable for detecting bone marrow molecular abnormalities in patients with hematologic neoplasms. However, not clear is whether cfDNA is sufficient to detect mutations present at low variant allele frequency (VAF). Since patients with aplastic anemia (AA usually have relatively small clones in blood and bone marrow (BM), we compared mutations detected in BM cells with those detected in peripheral blood cfDNA from patientswith this disease. Methods: A total of 120 paired BM aspirate and PB plasma samples were tested by the commercially available TruSight Myeloid Sequencing Panel (Illumina; San Diego, CA). We extracted DNA from bone marrow aspirate using the QIAamp DNA Mini Kit. We used NucliSenS EasyMAG automated platform for extracting total nucleic acid from PB plasma collected in EDTA. All paired BM and plasma samples were tested by the commercially available TruSight Myeloid Sequencing Panel (Illumina; San Diego, CA), which covers hot spot mutations in 54 genes. The average depth of sequencing was 10,000X. Results: One hundred twenty paired BM and cfDNA samples from 96 patients with aplastic anemia were tested. Of the 96 patients, 33 (34%; equivalent to 48 samples, 40%) had one or more mutations. We identified 54 different somatic mutations in these patients, of which 45 were unique. There was no significant difference (P=0.71, Sign test) in allele frequency between cfDNA and BM. The median mutant allele frequency was 10.9% in cfDNA and 12.6% in BM cells, and 40 of the 54 mutations had allele frequency ≤20% in BM cells, while 45 samples had allele frequency ≤20 in cfDNA. Six of the 33 patients with somatic mutations (18%) showed mutations in plasma cfDNA but not in BM. In contrast, 2 patients (6%) showed mutations in BM cells and not in cfDNA. One of these two patients had a mutation in ASXL1 gene detected in BM cells but not in cfDNA and a subsequent sample showed the same ASXL1mutation in BM cells and not in cfDNA, and a second clone with a different ASXL1 mutation detected in both BM cells and cfDNA. Overall concordance between BM cells and cfDNA in the 120 samples was 92% and there was no statistically significant difference between the two sample types (P=0.6). Summary and Conclusions: Seven samples (from 7 patients) of the 120 tested samples showed mutations in cfDNA and not in BM cells while 3 samples (from 2 patients) showed mutations in BM and not in cfDNA. VAF of mutations in cfDNA were similar to those in BM cells. Therefore, peripheral blood cfDNA should be tested in addition to BM cells for detecting mutations in patients with AA. Peripheral blood cfDNA can be used as a reliable means for monitoring patients with AA. cfDNA testing can be used as an alternative testing to bone marrow even when mutant allele frequency in bone marrow is <20%. cfDNA may be an especially valuable source of mutation detection in marrow failure, in which marrow aspirates may not contain sufficient cells for accurate mutation analysis. Disclosures Albitar: Neogenomics Laboratories: Employment. Townsley:Novartis: Research Funding. Ma:Neogenomics Laboratories: Employment. De Dios:Neogenomics Laboratories: Employment. Funari:Neogenomics Laboratories: Employment. Young:GSK/Novartis: Research Funding. Albitar:Neogenomics Laboratories: Employment, Equity Ownership.


2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Lei Wang ◽  
Shuping Zhang ◽  
Yan Wang ◽  
Jin Xuan ◽  
Yanli Han ◽  
...  

Objective. To explore risk factors for death from cardiomyopathy and the effectiveness of health information management (HIM). Methods. A total of 80 patients with cardiomyopathy admitted in ICU of our hospital (January 2016–January 2020) were selected as study subjects, and the clinical data of the patients were retrospectively analyzed. The patients were divided into the survival group (n = 72) and the death group (n = 14) according to the treatment outcome. Then, according to the management mode, the survival group was further equally divided into the conventional group and the HIM group to investigate the influence of risk factors on prognosis of patients with cardiomyopathy and the effectiveness of HIM. Results. No significant difference was found in baseline body mass, myocardial enzymes, troponin, infection factors, history of heart disease, and gender between the survival group and the death group ( P  > 0.05). Compared with the survival group, the patients of the death group were older ( P  < 0.05), LVEF of the death group was obviously lower ( P  < 0.05), and the scores of APACHE II and SOFA of the death group were obviously higher ( P  < 0.05). Further logistic regression analysis of the univariate factors influencing the risk of death from cardiomyopathy led to the conclusion that LVEF was an independent risk factor for death in patients with cardiomyopathy. LVEF below 24.69% examined by echocardiography had a high predictive value, with a sensitivity of 98.6% and a specificity of 78.6%. No obvious difference was found in general data between the conventional group and the HIM group ( P  > 0.05). Compared with the conventional group, the disease remission rate, complication rate, awareness rate of health knowledge, ICU length of stay, and scores of self-management efficacy of the HIM group were obviously better ( P  < 0.05). No significant difference was found in 5-year mean survival rate between the conventional group and the HIM group ( P  > 0.05). Conclusion. Older age, lower LVEF, and higher scores of APACHE II and SOFA are all risk factors for death from cardiomyopathy. Lower LVEF is an independent risk factor, and LVEF below 24.69% is an important indicator of increased risk of death. Moreover, HIM can effectively improve short-term treatment efficacy but has little effect on the long-term survival rate.


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