ACE Insertion/Deletion Polymorphism (rs4646994) Is Associated With the Increased Risk of Multiple Myeloma

Introduction: The insertion (I allele) deletion (D allele) polymorphism of ACE gene (rs4646994) may influence the etiopathogenesis of multiple myeloma (MM). ACE gene is expressed in bone marrow cells and encodes angiotensin converting enzyme (ACE). It converts angiotensin I to active peptide angiotensin II, which stimulates proliferation of hematopoietic stem cells. This suggests possible association of ACE I/D gene polymorphism with MM. The aim of our study was to check possible impact of this polymorphism on risk of development and outcome of MM, as well as, sensitivity to bortezomib in cell cultures derived from MM patients.Objects and Methods: Genomic DNA from 98 newly diagnosed MM patients and 100 healthy blood donors were analyzed by PCR method. Chromosomal aberrations were detected by use of cIg-FISH. In a subgroup of 40 MM patients nucleated bone marrow cells were treated with bortezomib in vitro.Results: The Hardy-Weinberg equilibrium test showed that genotypic frequencies diverged significantly from the equilibrium. The differences between I and D allele frequencies in control and study population were significant (p = 0.046). We observed the association between DD genotype and more than 2-fold risk of MM - OR = 2.69; p < 0.0001. We did not detect any significant differences among studied genotypes regarding clinical and laboratory parameters. Moreover, we did not observe the association between survival of MM patients and I/D genotypes. Bortezomib increased number of apoptotic and necrotic cells, but the only statistically significant differences were observed in the number of viable cells at 1 nM between ID and DD genotypes (p = 0.026).Conclusion: Presented results confirmed the significant relationship between ACE (I/D) polymorphism and risk of MM development. We did not observe the association of ACE I/D polymorphism with disease outcome and bortezomib in vitro sensitivity

I Don’t Want to Be Thin! Fear of Weight Change Is Not Just a Fear of Obesity: Research on the Body Mass Anxiety Scale

Anxiety is one of the psychological factors associated with body weight experienced by people attempting to live up to expectations of an ideal body shape. The stigma of excessive or too low body weight and the stigmatization of people because of it is becoming a widespread problem with negative psychological and social consequences. One effect of the strong social pressure of beauty standards dependent on low body weight is the development of eating disorders and negative societal attitudes toward overweight or obese people. Research conducted to date has mainly focused on one dimension of weight-related anxiety—the fear of getting fat. Ongoing research has also revealed the other side of weight-related anxiety—fear of weight loss. Therefore, the purpose of the present project was to develop a two-dimensional scale to diagnose the level of weight-related anxiety and to preliminarily test the psychometric properties of the emerging constructs. Results: the BMAS-20 weight-related anxiety scale in both Polish and English versions was developed and its psychometric properties were confirmed. The components of body weight-change anxiety that emerged were: anxiety about getting fat and anxiety about losing weight. It was found that both AGF and ALW may have a protective function related to awareness of the negative consequences of poor eating and the health risks associated with it. Above-normal levels of anxiety may be a predictor of psychopathology. Both AGF and ALW are associated with symptoms of depression

I Don’t Want to Be Thin! Fear of Weight Change Is Not Just a Fear of Obesity: Research on the Body Mass Anxiety Scale

Anxiety is one of the psychological factors associated with body weight experienced by people attempting to live up to expectations of an ideal body shape. The stigma of excessive or too low body weight and the stigmatization of people because of it is becoming a widespread problem with negative psychological and social consequences. One effect of the strong social pressure of beauty standards dependent on low body weight is the development of eating disorders and negative societal attitudes toward overweight or obese people. Research conducted to date has mainly focused on one dimension of weight-related anxiety—the fear of getting fat. Ongoing research has also revealed the other side of weight-related anxiety—fear of weight loss. Therefore, the purpose of the present project was to develop a two-dimensional scale to diagnose the level of weight-related anxiety and to preliminarily test the psychometric properties of the emerging constructs. Results: the BMAS-20 weight-related anxiety scale in both Polish and English versions was developed and its psychometric properties were confirmed. The components of body weight-change anxiety that emerged were: anxiety about getting fat and anxiety about losing weight. It was found that both AGF and ALW may have a protective function related to awareness of the negative consequences of poor eating and the health risks associated with it. Above-normal levels of anxiety may be a predictor of psychopathology. Both AGF and ALW are associated with symptoms of depression

MENTAL SIMULATIONS IN PEOPLE WITH NORMAL BODY MASS AND OVERWEIGHT

The cause of problems associated with overweight is often lack of persistence, ineffectiveness in the diet maintaining and uncontrollable overeating. Loss of excessive body weight is not easy goal to reach. The same feature refers to as well as implementation of all activities, which effects are delayed in time. Undertaking an activity that will have to be maintained for a longer time requires not only initiation step, but also perseverance, which supports the achievement of the goal. Beside perseverance the mental simulations of the result and process are important too. The aim of the research was analysis of correlations between the type of mental simulations and the normal body mass or overweight in study group

Measuring Pathological and Nonpathological Orthorexic Behavior: Validation of the Teruel Orthorexia Scale (TOS) among Polish Adults

Measuring orthorexia nervosa is challenging due to the use of various existing tools and problems with sample representativeness. Another challenge for the Polish population is the adaptation of existing research tools and the evaluation of their relevance and research reliability. Our research aimed to adapt the TOS to the Polish language and measure pathological and nonpathological orthorexic behavior among the Polish population. The adaptation of the PL-TOS has high psychometric value and allows us to assess healthy and nervous orthorexia levels. This scale can be used not only for further research but also for diagnostic purposes in the daily work of clinicians and psychologists. Our results obtained in the present study indicate a correlation between TOS and both the use of supplements and diet. Higher TOS, ORTO_R and KZZJ_Diet Restrictions scores were obtained for individuals using dietary supplements than for those not using dietary supplements. In the future, it is worth conducting research aimed at various risk groups of individuals with orthorexia to confirm the psychometric properties of this adaptation of the TOS

<i>WT1</i> Gene Mutations, rs16754 Variant, and <i>WT1</i> Overexpression as Prognostic Factors in Acute Myeloid Leukemia Patients

(1) Background: The aim of our study was the complex assessment of WT1 variants and their expression in relation to chromosomal changes and molecular prognostic markers in acute myeloid leukemia (AML). It is the first multidimensional study in Polish AML patients; (2) Methods: Bone marrow aspirates of 90 AML patients were used for cell cultures (banding techniques and fluorescence in situ hybridization), and to isolate DNA (WT1 genotyping, array comparative genomic hybridization), and RNA (WT1 expression). Peripheral blood samples from 100 healthy blood donors were used to analyze WT1 rs16754; (3) Results: Allele frequency and distribution of WT1 variant rs16754 (A;G) did not differ significantly among AML patients and controls. Higher expression of WT1 gene was observed in AA genotype (of rs16754) in comparison with GA or GG genotypes—10,556.7 vs. 25,836.5 copies (p = 0.01), respectively. WT1 mutations were more frequent in AML patients under 65 years of age (p NPM1 or CEBPA mutations decreased the risk of WT1 mutation presence, odds ratio (OR) = 0.11, 95% CI 0.02–0.46, p = 0.002 or OR = 0.05, 95% CI 0.006–0.46, p = 0.002, respectively. We observed significantly higher WT1 expression in AML CD34+ vs. CD34−, −20,985 vs. 8304 (p = 0.039), respectively. The difference in WT1 expression between patients with normal and abnormal karyotype was statistically insignificant; (4) Conclusions: WT1 gene expression and its rs16754 variant at diagnosis did not affect AML outcome. WT1 mutation may affect RFS in AML

The Relationship of ABCB1/MDR1 and CYP1A1 Variants with the Risk of Disease Development and Shortening of Overall Survival in Patients with Multiple Myeloma

(1) Background: The aim of our study was to analyze the possible relationship of ABCB1 and CYP1A1 gene variants with susceptibility and outcome of multiple myeloma (MM); (2) Methods: Genomic DNA samples from 110 newly-diagnosed MM patients and 100 healthy blood donors were analyzed by methods-PCR-RFLP (for ABCB1 3435C &gt; T, CYP1A1 6235T &gt; C—m1), automated DNA sequencing (for ABCB1 1236C &gt; T, 2677G &gt; T/A) and allele-specific PCR (for CYP1A1 4889A &gt; G—m2); (3) Results: The genotypic frequencies of CYP1A1 4889A &gt; G variant were not in Hardy-Weinberg equilibrium for MM patients. The presence of m1 and m2 CYP1A1 alleles decreased the risk of MM—OR = 0.49 (p = 0.011) and OR = 0.27 (p = 0.0003), respectively. In turn, TT genotype (ABCB1 2677G &gt; T/A) increased the risk of this disease (p = 0.007). In the multivariate Cox analysis CT + TT genotypes (ABCB1 3435C &gt; T) were associated with decreased risk of death (HR = 0.29, p = 0.04). In log-rank test in patients with CT genotype (ABCB1 3435C &gt; T) was observed association of overall survival with the type of treatment; (4) Conclusions: Our findings suggest that T-alleles of ABCB1 2677G &gt; T/A and m1/m2 alleles of CYP1A1 affected the susceptibility of MM. Moreover, T-allele of ABCB1 3435C &gt; T might be independent positive prognostic factor in MM

NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis

Introduction. NOTCH pathway and TP53 protein are involved in the development of fibrosis and autoimmune disorders, respectively. The aim of this study was to evaluate the role of single nucleotide polymorphisms (SNPs) of NOTCH3 and TP53 genes and serum anti-TP53 antibodies with the susceptibility, clinical subset of systemic sclerosis (SSc), and clinical profile of SSc patient, particularly with lung involvement and disease activity. Objects and Methods. 124 white Polish SSc patients (101 with limited cutaneous SSc–lcSSc, and 23 with diffuse cutaneous SSc–dcSSc) and 100 healthy individuals were included in the study. Patients were assessed for the presence of autoantibodies and interstitial lung disease. Two SNPs at position 6746 of NOTCH3 gene (C/T alleles) and 215 of the TP53 gene (P/R alleles) were genotyped by PCR-restriction fragment length polymorphism. Serum levels of anti-TP53 antibodies were analyzed by means of ELISA. Results. The genotypic frequencies of the NOTCH3 gene for SSc patients diverged significantly from Hardy–Weinberg equilibrium (p=0.03; χ2 = 4.63). There was no significant difference between SSc patients and the control population in allele frequencies of both SNPs. The CT + CC genotypes of NOTCH3 influenced the susceptibility to SSc (OR = 1.85, p=0.04), including dcSSc (OR = 3.43, p=0.04), and active form of SSc (OR = 5.46, p<0.001). The PR + RR genotypes of the TP53 gene were associated only with dcSSc susceptibility (OR = 3.30, p=0.034). The levels of anti-TP53 antibodies were not related to studied SNPs and clinical parameters of SSc including the presence of specific antibodies and interstitial lung disease. Conclusion. The CT + CC genotypes of NOTCH3 gene and PR + RR genotypes of the TP53 gene increased the risk of dcSSc development. Moreover, genotypes of CT + CC were associated with the active form of SSc suggesting the role of the NOTCH pathway in the pathogenesis of this disease