Survey of the status of iron and sclerostin in major Thalassemia Patients

Author(s):  
Leila Moinzadeh ◽  
Mohammad Reza Keramati ◽  
Mohammad Taha Jalali ◽  
Bejan Keikhaei ◽  
Najmaldin Saki ◽  
...  

Background and Aims: Thalassemia is one the most prevalent genetic anemia in the world; homozygote patients usually suffer from severe disturbances. Osteopenia and osteoporosis are of various types of thalassemia complications which are increase in rate in patients with iron overload conditions. Sclerostin is a protein which enhances bone loss by inhibiting osteoblasts. The aim of this study was to measure sclerostin protein and its association with iron overload in major thalassemia patients. Materials and Methods: Forty patients with major beta-Thalassemia and 40 healthy control individuals were includedin the study; Sclerostin protein and ferritin were evaluated using ELISA method. Results: Mean sclerostin protein was 100.7 pg/ml, in the case group; it was 143.1 pg/ml in the control group.There was a significant differences between sclerostin protein in case and control groups (p= 0.015). The association of sclerostin and ferritin was not significant in the case group (p= 0.7), while  it was meaningful in the control individuals (p= 0.037). Conclusion: Our findings suggest that sclerostin protein can play an important role in the pathogenesis of osteoporosis.

2021 ◽  
Vol 7 (1) ◽  
pp. 24-29
Author(s):  
Chandra Calista Wardoyo ◽  
Uni Gamayani ◽  
Anam Ong ◽  
Ahmad Rizal ◽  
Yusuf Wibisono ◽  
...  

Background: Cognitive impairment in thalassemia patients are prevalent, therefore early detection of cognitive impairment in adult thalassemia patients is crucial for prevention. Montreal Cognitive Assessment (MoCA) is a public domain cognition screening tools that covers all cognitive domains in detecting mild cognitive impairments. Objective: To compare cognitive function between adult thalassemia patients and healty control by using Indonesia version of MoCA test (MoCA-Ina) Methods: This prospective observational analytic with case control study, compared the total scores and scores of each domain of cognition between adult thalassemia patients and healthy subjects at the Medical Hematology Oncology Clinic of Dr. Hasan Sadikin General Hospital, Bandung, Indonesia using MoCA-Ina from August to October 2018. Results: A total of 32 thalassemia subjects and 50 healthy subjects were conducted. A total of 16(50%) subjects in the case group had a value of MoCA-Ina <26, while only 1(2%) healthy control had a value of MoCA-Ina <26. The median total MoCA-Ina score in case and control groups were 25.5 and 27.50 (p <0.001). The median score of memory domains, executive functions and visuospatial of the case and control groups were 3 versus 4 (p <0.001), 3 versus 3.5 (p <0.001) and 3.53 ± 0.671 versus 3.88 ± 0.385 (p <0.003), respectively. Conclusion: Adults thalassemia patients have lower score in total MoCA-Ina, domains of memory, executive function and visuospatial score compared to healthy control.


2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
M. Ohadi ◽  
Y. Heshmati ◽  
A. Mirabzadeh ◽  
H.R. Khorram Khorshid ◽  
K. Kamali

Crucial interaction of caveolin-1 (CAV1) with beta- and gamma-secretases, and aberrant expression of the gene encoding this protein in Alzheimer's disease (AD) support a role for CAV1 in the pathophysiology of this disease.We report a novel polymorphic purine complex stretching ~150 bp of genomic DNA at the 1.5 kb upstream region of the human CAV1 gene, alleles and genotypes of which are associated with sporadic late-onset AD. Extra-short alleles were observed in the case group that were absent in the control subjects. Increased homozygosity for haplotypes was also observed at this region in the Alzheimer's cases, for those alleles and allele lengths shared by the case and control groups [(c2=30.75, df=1, p< .000, OR=4.54, CI 95% (2.56-8.3)]. This region contains GGAA and GAAA motifs, the consensus binding sites for the Ets and IRF family transcription factors, respectively, and is highly conserved in distantly-related non-human primates in respect with location and motif sequence. The effect of this complex sequence on the expression of CAV1, and the related mechanisms in the pathophysiology of AD remain to be clarified.


Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4061-4061
Author(s):  
Kleber Yotsumoto Fertrin ◽  
Carolina Lanaro ◽  
Carla Fernanda Franco-Penteado ◽  
Dulcinéia M Albuquerque ◽  
Mariana R. B. Mello ◽  
...  

Abstract Abstract 4061 Poster Board III-996 Ineffective erythropoiesis in thalassemia has been associated with inappropriate suppression of hepatic synthesis of the key iron regulatory peptide hepcidin, leading to spontaneous iron overload. Hepcidin mRNA was found to be suppressed in hepatocyte cultures by high levels of growth differentiation factor 15 (GDF15) detected in sera from patients with thalassemic syndromes. GDF15 may inhibit hepcidin production by antagonizing positive regulatory cytokines such as bone morphogenic protein 6 (BMP6), shown to stimulate hepatic hepcidin expression in mouse models. Although mainly produced in the liver, human hepcidin production occurs to a lesser extent in circulating monocytes. Studies with monocytes in patients with anemia of chronic disease showed increased hepcidin expression and iron retention, but to the best of our knowledge, monocyte-derived hepcidin has not yet been characterized in iron-loading anemias such as beta-thalassemia intermedia (TI). We evaluated GDF15 plasmatic levels and correlated these to hemoglobin (Hb) levels, reticulocyte counts and gene expressions in monocytes from transfusion-independent, non-chelated TI patients, homozygous for the IVS-I-6 T→C mutation (n=18), healthy, age-matched controls with no iron deficiency or overload (n=10) and transfusion-independent sickle cell anemia (SCA) patients in steady state (n=5), as a positive control group in which hyperexpression of hepcidin in mononuclear cells has been previously demonstrated. Total RNA was extracted from monocytes isolated from peripheral blood mononuclear cells and determination of BMP6 and hepcidin gene expression was performed by Real Time Polymerase Chain Reaction. Plasma GDF15 levels were determined by ELISA. Mean TI patient Hb and serum ferritin levels were 7.05±0.21g/dL and 1846±346.4μg/L, respectively. Mean absolute reticulocyte count in TI was 163.9±21.5×103/mm3. Mean GDF15 plasma levels differences were statistically significant among TI, SCA and healthy control groups (8390±827, 1780±460 and 196±21pg/mL, p<0.0001, respectively). Hepcidin gene expression did not differ significantly between TI and healthy control groups (0.007±0.006 vs. 0.05±0.03, p>0.05, respectively) but was elevated in our positive control SCA patient group (0.56±0.20; p=0.04). BMP6 gene expression was significantly decreased in TI patients compared to healthy controls (1.17±0.15 vs. 0.51±0.11, p=0.01, respectively). GDF15 concentrations correlated positively with reticulocyte counts (r=0.47; p=0.007) and negatively with hemoglobin levels (r=-0.74; p<0.0001) and BMP6 gene expression (r=-0.62; p=0.006). Our data show very high GDF15 plasma levels in a relatively homogenous population of patients with iron overload secondary to beta-thalassemia intermedia. Correlation of GDF15 with hematimetric parameters reinforces its relation to the degree of erythropoietic activity in beta thalassemia due to ineffective erythropoiesis. In addition, our study demonstrates that monocyte-derived hepcidin, like its hepatic counterpart, is inappropriately suppressed in iron-overloaded beta thalassemia intermedia patients in the presence of increased GDF15 production, correlated to decreased levels of BMP6 expression. This supports the possibility that GDF15/BMP interaction regulates hepcidin production in monocytes and hepatocytes in a similar manner, and further studies of monocyte-derived hepcidin regulation may prove to be a suitable, non-invasive tool for the investigation of human liver-derived hepcidin pathways in thalassemia and other iron-loading anemias. Disclosures: No relevant conflicts of interest to declare.


2011 ◽  
Vol 26 (S2) ◽  
pp. 624-624 ◽  
Author(s):  
N. Parvin ◽  
S. Farzaneh ◽  
M. Nikfarjam ◽  
N. Shahinfard ◽  
N. Asarzadegan

Background and aimMedical plants have been used for centuries as a medicinal agent in treatment of depression and anxiety. The purpose of this study was to explore the effects of the lavendula officinalis on depression in patients using citalopram.MethodsThis clinical trial study was performed in Hajar hospital, Shahrekord, Iran. In this study eighty patients randomly allocated into two groups (40 patients in each group). Patients who complained from depression were studied during a two-month double-blind study. In control group, patients were given 20 mg citalopram twice daily plus placebo and case group were treated with 5 g arial part of dried Lavendula officinalis and citaloperam (20 mg, twice per day). After 4 and 8 weeks, patients were followed for evaluations of their depression and complications. Depression severity was scored using standard Hamilton’s depression questionnaire. Data were analyzed using Chi square and Paired-t test.ResultsAfter 1 month treatment, mean depression score in case and control groups were 15.2 ± 3.6 and 17.5 ± 3.5, respectively (P < 0.05). After 2 months the mean score of depression in case and control groups was 14.8 ± 4 and 16.8 ± 4.6, respectively (P < 0.01). The most common side effects in two groups were confusion and dry mouth, which were not significantly different between two groups.ConclusionLavendula officinalis has a positive effect on depressed patients and may be useful to decrease the severity of depression in patients using other antidepressants.


2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Mostafa Ghanei ◽  
Marco Chilosi ◽  
Hassan Mohammad Hosseini Akbari ◽  
Rouzbeh Motiei-Langroudi ◽  
Ali Amini Harandi ◽  
...  

We performed a pathologic study with further using an immunohistochemical technique (using anti-p63 and anti-CK5) on tissues obtained by open lung biopsy from 18 patients with previous exposure to sulphur mustard (SM) as case group and 8 unexposed patients (control group). The most frequent pathologic diagnosis was constrictive bronchiolitis (44.4%), followed by respiratory (22.2%) and chronic cellular bronchiolitis (16.7%) in the case group, and hypersensitivity bronchiolitis (50%) in the control group. The pathologic diagnoses were significantly different in the case and control groups (P=0.042). In slides stained by anti-p63 and anti-CK5, the percent of stained cells and the mean number of epithelial cells were lower in the case group in comparison to the control group. This difference was significant for the mean number of cells stained by anti-CK5 (P=0.042). Furthermore, there was a significant correlation between pathologic diagnosis and total number of cells and mean number of cells stained with anti-p63 and anti-CK5 (P  value = 0.002, <0.001, 0.044). These results suggest that constrictive bronchiolitis may be the major pathologic consequence of exposure to SM. Moreover, decrease of p63 in respiratory tissues affected by SM may suggest the lack of regenerative capacity in these patients.


2021 ◽  
Author(s):  
Pedro Alexandre Pereira ◽  
Drupad Trivedi ◽  
Justin Silverman ◽  
Ilhan Duru ◽  
Lars K Paulin ◽  
...  

We aimed to investigate the link between serum metabolites, gut bacterial community composition, and clinical variables in Parkinsons disease (PD) and healthy control subjects (HC). 139 metabolite features were found to be differentially abundant between the PD and Control groups. No associations were found between metabolite features and within-PD clinical variables. The results suggest alterations in serum metabolite profiles in PD, and the results of correlation analysis between metabolite features and microbiota suggest that several bacterial taxa are associated with altered lipid and energy metabolism in PD.


Author(s):  
Farideh Bastani ◽  
Parvaneh Samady Kia ◽  
Hamid Haghani

Background: Anxiety in orthopedic surgeries, especially knee replacement, is one of the most common complaints of the elderly. Aromatherapy with Damask Rose (Rosa damascena Mill.) can be one of the non-pharmacological methods in complementary medicine to control anxiety. Objectives: The present study aimed to determine the effect of aromatherapy with R. damascena on elderly anxiety after knee replacement surgery. Methods: In this quasi-experimental study, 80 elderly patients (60 to 90 years old) undergoing knee replacement surgery according to inclusion criteria were selected by convenience sampling method randomly from Moheb Mehr and Shafa Yahyaian hospitals of Tehran, Iran, and were divided into two groups of case and control. The case group was exposed to aromatherapy intervention at four intervals of 30 minutes. The instrument for measuring anxiety was the Visual Analogue scale for anxiety (VAS-A). Results: The results showed that the study elderly were homogeneous in terms of demographic variables in both case and control groups, except for two variables of education level and consumption of analgesics, which were also determined by two-way ANOVA. These parameters (education level, P = 0.54, and consumption of analgesics, P = 0.661) were not confounding variables. Significant differences were observed in the anxiety of the case group before and after the intervention (P < 0.001), while this difference was not significant in the control group (P = 0.304). Moreover, the difference in anxiety scores was significantly decreased after the intervention compared to before intervention in both case and control groups (P < 0.001). Probably Damask Rose aroma molecules produce and secrete neurotransmitters such as endorphins and encephalin, thereby reducing pain and anxiety. Conclusions: According to the findings of the study, the aromatherapy with R. damascena seems to be effective in reducing postoperative anxiety in these elderly patients.


2019 ◽  
Vol 18 (05) ◽  
pp. 217-222
Author(s):  
Fatma Hanci ◽  
Mustafa Hizal ◽  
Sevim Türay ◽  
Oya Kalaycioğlu ◽  
Nimet Kabakuş

AbstractThe purpose of this study was to evaluate the correlation between magnetic resonance imaging (MRI) findings and demographic and clinical characteristics, response to treatment times, and recurrence rates of Sydenham's chorea (SC), the most common of the acquired pediatric choreas. The clinical and radiological findings of 12 patients presenting to the pediatric neurology clinic in the previous 4 years and diagnosed with SC on the basis of the modified Jones criteria were investigated retrospectively from the hospital files. In addition, we measured the maximum prefrontal cortex and basal ganglia (globus pallidus, putamen, and caudate nucleus) thicknesses in the axial plane from patients' cerebral MRIs and compared these values with prefrontal cortex and basal ganglia thicknesses of a healthy control group measured using the same technique. Patient and control groups' cranial and basal ganglia MRIs were found to be normal. However, patients' globus pallidus thicknesses were significantly lower than those of the healthy control group. Additionally, the globus pallidus values of patients with recurrent SC and a prolonged healing time were lower than average. However, we determined no significant difference in terms of prefrontal motor cortex, caudate nucleus, or putamen thicknesses between the patient and control groups. Low globus pallidus thicknesses in patients with SC may indicate atrophy associated with globus pallidus involvement. Further experimental and prospective and long-term studies are needed for a better understanding of the factors affecting the pathophysiology, recurrence, and healing time of SC.


2019 ◽  
Vol 16 (2) ◽  
pp. 115-122 ◽  
Author(s):  
Jianhao Xiao ◽  
Xiaodong Li ◽  
Qian Yuan ◽  
Simiao Zhang ◽  
Kun Qu ◽  
...  

Objective: Paraoxonase (PON) family genes are closely related to the etiology and prognosis of cerebral infarction. This study explored the association of the promoter methylation of PON family genes (PON1, PON2 and PON3) with the risk of cerebral infarction. Materials and methods: In this study, 152 patients with confirmed cerebral infarction were selected as the case group, and 152 healthy controls were selected as the control group. The quantitative methylation-specific PCR (qMSP) was used to determine the promoter methylation levels of PON1, PON2 and PON3 genes. The methylation level was expressed as a methylation reference percentage (PMR). Results: Our results indicated that PON1 methylation was significantly higher in the case group than in the control group (P = 0.0001). On the contrary, PON3 methylation was significantly lower in the case group than in the control group (P = 0.002). In addition, we found that PON2 gene had a very low level of methylation in both case and control groups (PMR = 0). Subgroup analysis showed that PON1 and PON3 methylation were associated with cerebral infarction only in males (PON1, P = 0.0002; PON3, P = 0.007). Interestingly, the methylation levels of PON1 and PON3 were correlated with each other (case: r = 0.418, P = 0.0001; control: r = 0.3, P = 0.0002). Further multiple regression analysis suggested that elevated methylation levels of PON3 were a protective factor for cerebral infarction [OR (95%CI) = 0.979 (0.96, 0.999), β = -0.021, P = 0.035)], highdensity lipoprotein (HDL) and uric acid (UA) also were protective factors for cerebral infarction [HDL, OR (95% CI) = 0.01 (0.003, 0.033), P < 0.0001); UA, OR (95% CI) = 0.995 (0.991, 0.998), P = 0.003)]. The ROC curve analysis found that the combination of PON3, HDL, and UA had a good predictive power for cerebral infarction (AUC=0.878, 95% CI=0.839-0.918, sensitivity 73.7%, specificity 89.7%, P < 0.0001). Conclusion: PON1 and PON3 promoter methylation levels in peripheral blood were closely related. PON1 and PON3 methylation were associated with the risk of cerebral infarction in men. PON3 promoter methylation combined with HDL and UA could be used as potential biomarkers for the diagnosis of cerebral infarction.


Author(s):  
Zeinab TAVAKKOL AFSHARI ◽  
Zahra GHOLIZADEH ◽  
Amin Reza NIKPOOR ◽  
Jalil TAVAKKOL AFSHARI ◽  
Rashin GANJALI ◽  
...  

Background: The tumor protein p73 (TP73) is a homolog of TP53 family. Ectopic p73 overexpression largely mimics p53 activities as a tumor suppressor and activates the transcription of p53-responsive genes and as a result induce apoptosis. This study aimed to investigate the association between p73 G4A polymorphism and the risk of breast cancer in a northeastern Iranian population. Methods: This case-control study was performed on 105 patients who admitted in educational hospitals of Mashhad University of Medical Sciences, Iran during 2013-2015, with breast cancer as case group and 120 healthy women as the control group. PCR-CTPP method was used to investigate the relationship between the p73 G4A polymorphism and the risk of breast cancer. Results: There was no significant association between the AA genotype of the p73 G4A polymorphism and breast cancer in case and control groups. Although G allele frequency was higher in the case group, the abundance of this allele between case and control groups was not statistically meaningful and, as a result, not associated with the risk of breast cancer in this study group. Conclusion: There was no association between G4A p73 polymorphism and the risk of breast cancer in a northeastern Iranian population.  


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