scholarly journals Germline mutations among Polish patients with acute myeloid leukemia

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Aneta Bąk ◽  
Katarzyna Skonieczka ◽  
Anna Jaśkowiec ◽  
Anna Junkiert-Czarnecka ◽  
Marta Heise ◽  
...  

Abstract Background A small but important proportion of patients (4–10 %) with AML have germline mutations. They can cause the development of AML at an earlier age, confer a higher risk of relapse or predispose to secondary leukemias, including therapy-related leukemias. The analysis of germline mutations in a patient and his/her family is also critical for the selection of suitable family donors if the patient is a candidate for hematopoietic stem cell transplantation (HSCT). Methods 103 unrelated consecutive patients with de novo AML were enrolled in the study. Control group consisted of 103 persons from the general population. We performed NGS sequencing of bone marrow cells and buccal swabs DNA of six genes: CEBPA, DDX41, ETV6, TERT, GATA2, and IDH2 to detect germline pathogenic mutations. Results In the investigated group, 49 variants were detected in six genes. 26 of them were somatic and 23 germline. Germline variants were detected in all six tested genes. Eight pathogenic germline mutations were detected in 7 AML patients, in three genes: CEBPA, ETV6, and IDH2. One patient had two pathogenic germinal mutations, one in ETV6 and one in CEBPA gene. We identified one novel pathogenic germline mutation in CEBPA gene. The difference in frequency of all pathogenic germline mutations between the tested (7.77 %) and control groups (0.97 %) was statistically significant (p = 0.046). In the tested group, the median age at AML diagnosis was 11 years lower in patients with pathogenic germline mutations than in patients without them (p = 0.028). Conclusions We showed higher frequency of CEBPA, ETV6, and IDH2 germline mutations in AML patients than in control group, which confirms the role of these mutations in the development of AML. We also showed that the median age at the onset of AML in patients with pathogenic germline mutations is significantly lower than in patients without them.

Author(s):  
Mohammed Abdul Rahman ◽  
Raghunatha Rao D ◽  
Vasantha L

The present study is aimed to study and analyze the true and pseudo Cholinesterase levels in the subjects exposed to pesticides during short term by intentional or accidental intake and long term exposure due to their occupation were studied at Department of Biochemistry, SVS medical college and hospital mahbubnagar district. Whole blood cholinesterase levels and Pseudo cholinesterase levels were estimated. 150 people were taken as controls who had no medical illness and a total number of 300 cases of pesticide poisoning were selected, aged between 20 to 55 years, which consist of 150 acute poisoning and 150 chronic poisoning subjects in Mahbubnagar district, were taken as case study, the detailed case history and the type of organophosphorus pesticide taken were recorded. Mean and standard deviation (S.D) of all variables were calculated and compared with those of controls. Statistical significance was assessed and P-value <0.05 were considered significant.           During acute poisoning the mean value of Whole blood cholinesterase/True cholinesterase (U / L) in acute poisoning cases on first day was 1.267± 0.612 on 3th day was 1.651±0.647, on 7th day was 2.221±0.684 and at the end of 6 months was 3.970±0.404.The difference between the study group and control group (4.0 ± 0.39) was found to be statistically significant in1st, 3rd, 7th day but not significant at the end of 6 months. The mean value of serum cholinesterase/pseudo cholinesterase (U/L) in acute poisoning cases on first day was 2213.05 ± 1749.81, on 3th day was 2862.3 ± 2025.6, on 7th day was 4008.4 ± 2355.9 and at the end of 6 months was 7708.34 ± 880.72.The difference between the study group and control group (7991.97 ± 1276.5) was found to be statistically significant in1st, 3rd, 7th day but not significant at the end of 6 months. During chronic poisoning (exposure) the mean value of Whole blood cholinesterase (U/L) in controls is 4.0 ± 0.39 as compared to 3.019 ± 0.848 in cases of chronic poisoning. The difference between the study group and control group was found to be statistically significant. The mean value of serum cholinesterase/pseudo cholinesterase (U/L) in controls was 7991.97 ± 1276.5 as compared to 6214 ± 1189 in cases of chronic poisoning. The difference between the study group and control group was found to be statistically significant.


Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 102-102
Author(s):  
Maryan M Ali ◽  
Tobias Gedde-Dahl ◽  
Marit B Veierød ◽  
Geir E Tjønnfjord ◽  
Per Ole Iversen

Abstract Introduction In many patients diagnosed with a hematological malignancy, the disease cannot be totally eradicated by conventional therapeutic approaches, and for them allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only curative option. A major complication of allo-HSCT is graft-versus-host disease (GvHD), affecting about 50% of transplant recipients. In addition to increased risk of death and long-lasting debilitating conditions, severe GvHD also impairs health-related quality of life. High-dose systemic steroids is the first line treatment for GvHD, but treatment failure is common, and steroid-refractoriness is a major cause of non-relapse mortality after allo-HSCT. While there is no established second line GvHD-treatment, extracorporeal photophoresis (ECP) has emerged as an attractive and increasingly applied alternative, partly due to its favourable safety profile. However, the use of ECP in preventing GvHD is sparse and data are inconclusive due to lack of randomized controlled trials (RCT). We therefore conducted a RCT to study if ECP given post transplantation could prevent the development of GvHD. Methods Between June 2017 and February 2020, we enrolled 157 patients (&gt; 18 years) diagnosed with a hematological malignancy and treated with an allo-HSCT in first remission into an intention-to-treat open RCT. Ethical and IRB approvals were granted, and the RCT was registered with Clinical Trials (ID NCT03204721). The sample size (76 in intervention group and 81 controls) was calculated based on a reduction of 25% in the total number of patients diagnosed with any form of GvHD within the first year of allo-HCST (primary end-point) as clinically relevant. The patients were stratified according to whether they received myeloablative or reduced intensity conditioning (Table 1), and they were given GvHD prophylaxis as shown in Table 1. ECP (Therakos Cellex ®, Mallinckrodt Pharm., NJ) was initiated when patients had engrafted (i.e. leukocytes &gt; 1 x 10 9/L and platelets &gt; 20 x 10 9/L), and, according to the study protocol, we planned for ECP on two consecutive days/week for two weeks, then weekly for four weeks to a total eight treatments for each patient in the intervention group. Chi-square test was used to test differences between the two study groups. Results Table 1 shows that patient characteristics were well balanced among the two study groups. Four patients did not receive ECP while 39 received all the eight treatments. One year after allo-HCST, the proportion of GvHD was 45/76 (59%) in the intervention group and 52/81 (64%) in the controls (p=0.52). There were no significant differences between the intervention and control group regarding development of acute (45% vs. 48%) or chronic (39% vs. 40%) GvHD. Neither did we detect any statistical differences between the two study groups regarding organ involvement or severity of the GvHD manifestations (data not shown). During the one-year observation period, 16/76 (21%) and 10/81 (12%) relapsed in the intervention and control group, respectively (p=0.14). The corresponding numbers of deaths were 12/76 (16%) and 16/81 (20%), respectively (p=0.52). Six patients in the intervention group experienced mild to moderate temporary, adverse events that could possibly be related to the ECP-procedure. Conclusion In this first RCT addressing ECP as GvHD prophylaxis in allo-HSCT for hematological malignancy, we found no significant difference in the numbers, types, organ involvement, or severity of GvHD between the intervention and the control group. Thus, our study does not support the use of ECP as an adjunct to GvHD-prophylaxis based on cyclosporine and methotrexate, mycophenolate mofetil, or sirolimus. However, ECP did not seem to be harmful in this setting. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.


2020 ◽  
Vol 4 (2) ◽  
Author(s):  
Jiaying Song

Objective: To explore the clinical effect of iRoot BP Plus pulpotomy for immediate repair in children with young permanent teeth crown fracture. Methods: From September 2017 to October 2018, 80 children (80 affected teeth) with young permanent teeth crown fracture who treated in the hospital were selected as the research objects. Random number table method was used to divide them into observation and control groups with each group of forty patients (40 affected teeth). The children in the control group were treated with calcium hydroxide resin, while the observation group were treated with iRoot BP Plus for immediate repair. The surgical success rate was compared between the two groups, and the pulp vitality before and after treatment were compared. Results: At 3 months and 6 months after surgery, the success rate of children in the observation group was higher than that in the control group, and the difference was statistically significant (P<0.05). The percentage of children with negative pulp activity in the observation group was higher than that in the control group, and the difference was statistically significant (P<0.05). Conclusion: Immediate repair with iRoot BP Plus pulpotomy in children with young permanent teeth crown fracture has significant clinical effect.


Author(s):  
Nadya Isnan Furqoni

Providing student with clear feedback is one of the ways that can facilitate students to be able to write well. This study is aimed to find out the difference between students who are taught by using peer feedback and those who are taught by using teacher feedback.  This was an experimental research that used quantitative approach. The subjects of this research were students of Writing II of English Department of FKIP Lambung Mangkurat University. Writing II class A1 was the experiment group and Writing II class A2 was the control group. The data of this research were students’ writing achievement in both experiment and control class. The data analyzed by using SPSS (One-Way ANOVA). Ha was found 0.003 which meant that Ha was accepted. It showed that there was difference in students’ writing achievement between students in experiment and control class. It was proved that students who were taught by using peer feedback had higher achievement in writing than students who were taught by using teacher feedback. On the whole, it is suggested for students to improve their ability in proof reading and for the teachers, it is suggested to apply not only teacher feedback technique, but also peer feedback technique to their students in writing class.


2018 ◽  
Vol 29 (7) ◽  
pp. 496-503 ◽  
Author(s):  
Emine Yılmaz ◽  
Funda Kavak

The aim of this study was to determine the effects of mindfulness-based psychoeducation on internalized stigma in patients with schizophrenia. The patients were recruited from the community mental health centers. This quasiexperimental study was conducted using pretests and posttests with a control group. The participants were 69 patients with schizophrenia; 34 were part of the experimental group and 35 were part of the control group. The patients in the experimental group participated 2 days a week for 6 weeks in a total of 12 sessions which were given in the form of face-to-face group training. The difference between the scale mean posttest scores of the patients in the experimental and control groups was found to be statistically significant ( p < .05). In the intragroup comparisons, a significant difference was found between the stigma mean scores in the experimental group ( p < .05). It was concluded that mindfulness-based psychoeducation was effective in reducing stigma in patients with schizophrenia.


2018 ◽  
Vol 17 (1) ◽  
pp. 112-117
Author(s):  
MA Siddiqui ◽  
Abdul Quavi ◽  
Mohd Aleemuddin Quamri

Background and Objective: Qarahe Hazmiya (Peptic ulcer disease) is one of the commonest ailment of Gastro intestinal tract, reported to affect around 4% of the population and 10% of people developed it at some point in their life. Etiopathology of the disease is considered as multi factorial mostly treated with medications and rarely with surgery. Several Unani formulation have been indicated effective in Qarahe Hazmiya, one of such formulation has been selected to evaluate its efficacy and to validate the same on scientific parametersMethods: This study was conducted as a single blind, randomized standard control clinical trial on 28 patients (n=20) in test and (n=8) control groups. Test group received Ayarij Faiqura 5gm and control group received Pantoprazole 40 mg, orally in empty stomach for 45 days. The study outcome was assessed as the difference in pre and post treatment through subjective and objective parameters.Result: The test drugs revealed statistically significant improvement in burning sensation in abdomen (p<0.0001), pain abdomen (p<0.0001) as subjective parameters in comparison to control group where as objectivecally endoscopic report showed significantly improvement (p<0.0196) in comparison to control group with respect to the healing of ulcer / erosions.Interpretation and conclusion: The study revealed that the test drug had good response in controlling burning sensation and pain abdomen, along with healing of ulcer / erosions in comparison to control drug. No side effect or toxicity was observed during and or after the study. Thus, it could be concluded that the test drug was found to be safe and effective without any adverse effect.Bangladesh Journal of Medical Science Vol.17(1) 2018 p.112-117


2018 ◽  
Vol 16 ◽  
pp. 205873921881917
Author(s):  
Ye Zhao ◽  
Qiu-Man Wang ◽  
Li-Ting Yao ◽  
Xiao Han

This study aims to determine the effect of paiteling by placing a vaginal stump on the outcome of persistent high-risk human papillomavirus (HR-HPV) infection after hysterectomy for cervical intraepithelial neoplasia (CIN). From January 2013 to December 2015, 125 patients were enrolled in the study. These patients were divided into groups, according to patient’s preference. There were 55 patients in the paiteling group, while there were 70 patients in the control group. At the end of the third and ninth month, Thinprep cytology test (TCT) and human papillomavirus (HPV) typing were reviewed to determine the changes in HR-HPV and its complications. The negative conversion rates of these two groups were observed. Patients in the control group were observed and followed up without treatment. At the third month after treatment, HPV negative rates were 83.64% and 34.29% in the paiteling group and control group, respectively (χ2 = 30.444, P < 0.01). In the ninth month, the rate of HPV negative conversion was 90.91% in the paiteling group and 48.57% in the control group (χ2 = 25.047, P < 0.01). The difference between the two groups was statistically significant, and patients in both groups had no obvious adverse reactions. Paiteling irrigation at the vaginal stump can accelerate the positive-to-negative conversion of HR-HPV infection after panhysterectomy.


2010 ◽  
Vol 13 (1) ◽  
pp. 32-37 ◽  
Author(s):  
Chunhua Yu ◽  
Jin Wang ◽  
Yan Fu ◽  
Yongqiu Mao ◽  
Yongshun Chen ◽  
...  

Background and objective: A murine model of skin injury from vinorelbine extravasation was established to evaluate the treatment efficacy of basic fibroblast growth factor (bFGF) and recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF). Materials and method: Experimental models were divided into bFGF, rhGM-CSF, and control (saline) groups, with 40 mice in each group. Edema and ulceration were measured on Days 1, 3, 5, 7, 10, 14, and 18 after the onset of extravasation; injuries were examined pathomorphologically in three mice/group/time point. Results: Edema reached maximum size on Day 3 in the bFGF and rhGM-CSF groups and Day 5 in the control group. The difference between the two experimental groups was not significant; differences between the control group and the experimental groups were statistically significant at all time points. Edema and ulceration began to improve on Day 10 in the bFGF and rhGM-CSF groups and Day 18 in the control group. Healing duration was 14—18 days in the experimental groups, with a (not significantly) shorter duration in the bFGF group. Healing was completed by Day 27.5 in the control group. Pathomorphological evaluation showed regular reepithelization and newly formed granulation tissue in the bFGF and rhGM-CSF groups on Day 13. In the control group, wounds were partially healed, edema and shallow ulcers existed, and epithelization was fragile and disorganized on Day 18. Conclusions: bFGF and rhGM-CSF are useful for the treatment of skin injury due to vinorelbine extravasation, but bFGF may be slightly more effective in decreasing time and improving quality of healing.


2016 ◽  
Vol 44 (05) ◽  
pp. 287-294 ◽  
Author(s):  
Ragab H. Mohamed ◽  
Mohamed Hossam ◽  
Axel Wehrend ◽  
Hassan A. Hussein

SummaryObjective: The aim of this study was to monitor the ovarian response and conception rate following estrous synchronization using CIDR, Ovsynch and double prostaglandin F2α protocols in Egyptian buffalo heifers. Material and methods: A total of 80 cyclic buffalo heifers were divided into four equal groups: CIDR (intravaginal progesterone releasing device, EAZI-BREEDTM CIDR®), Ovsynch (GnRH, PGF2α, GnRH injections), PGF (double PGF2α doses) and control. Timed artificial insemination (TAI) was performed in all heifers. All animals were exa - mined using ultrasound and blood samples were collected for measurement of progesterone. Results: A new follicular wave occurred earlier in the Ovsynch and PGF groups than in the CIDR group (p < 0.05). The mean diameter of the ovulatory follicle was smaller in the CIDR group than in the Ovsynch and PGF groups (p < 0.05). The ovulation rate was 100% in the CIDR group, 75% in the Ovsynch group and 70% in the PGF group. In the control group a lower pregnancy rate (20%) was determined in than in the CIDR (35%), Ovsynch (40%) and PGF (35%) groups. Progesterone concentrations were numerically higher in pregnant heifers of the CIDR group but the difference was non-significantly compared to the Ovsynch, PGF and control groups (p > 0.05). Conclusion and clinical relevance: EAZIBREEDTM CIDR®, Ovsynch-based TAI and PGF protocols were effective in synchronizing oestrus and resulted in nearly similar pregnancy rates in Egyptian buffalo heifers.


2007 ◽  
Vol 122 (1) ◽  
pp. 61-64 ◽  
Author(s):  
İ Aladag ◽  
Y Bulut ◽  
M Guven ◽  
A Eyibilen ◽  
K Yelken

AbstractBackground and objectives:Chronic nonspecific pharyngitis is a chronic inflammation of the pharynx. It is found worldwide, and treatment is difficult. The underlying aetiopathogenesis is still controversial. The aim of this study was to investigate Helicobacter pylori seroprevalence in chronic nonspecific pharyngitis patients without other possible causative factors for chronic pharyngeal irritation and without H pylori gastric mucosal infection.Materials and methods:Forty-one patients with symptoms of chronic nonspecific pharyngitis and 30 healthy control subjects were enrolled in this prospective, controlled, clinical study. In both study and control groups, selected patients were shown to have gastric mucosa uninfected by H pylori, as demonstrated by the 14C-urea breath test. Comprehensive otorhinolaryngological examination did not elicit any factor contributing to the chronic pharyngeal complaint. Serum H pylori immunoglobulin G antibody titres were assayed using serum enzyme-linked immunosorbent assay. The difference between the study and control groups was analysed by the chi-square test (the likelihood ratio was used).Results:Thirty-two of the 41 patients (78 per cent) and 14 of the 30 control subjects (46.7 per cent) were found to be H pylori positive. Patients with chronic nonspecific pharyngitis were found to have a significantly higher rate of H pylori seropositivity than the control group (p = 0.016).Conclusion:These data may be important in developing future treatment strategies for chronic nonspecific pharyngitis.


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