Cognitive functions in adults with β-thalassemia major: before and after blood transfusion and comparison with healthy controls

2016 ◽  
Vol 1375 (1) ◽  
pp. 19-27 ◽  
Author(s):  
Sivan Raz ◽  
Ariel Koren ◽  
Orrie Dan ◽  
Carina Levin
Keyword(s):  
Blood Transfusion ◽  
Cognitive Functions ◽  
Thalassemia Major ◽  
Healthy Controls ◽  
Before And After

scholarly journals VASCULAR ENDOTHELIAL GROWTH FACTOR IN CHILDREN WITH THALASSEMIA MAJOR PDF

2013 ◽  
Vol 5 (1) ◽  
pp. e2013044 ◽  
Author(s):  
Sameh Samir Fahmey ◽  
Hassan Naguib ◽  
Sanna Abdelshafy ◽  
Rasha Alashry
Keyword(s):  
Vascular Endothelial Growth Factor ◽  
Growth Factor ◽  
Blood Transfusion ◽  
Elevated Serum ◽  
Thalassemia Major ◽  
Enzyme Linked Immunosorbent Assay ◽  
Vascular Endothelial ◽  
Healthy Controls ◽  
Endothelial Growth Factor ◽  
Vegf Level

Background: The β-Thalassemia syndromes are the most common hereditary chronic hemolytic anemia due to impaired globin chain synthesis.  Vascular endothelial growth factor (VEGF) plays several roles in angiogenesis which is a crucial process in the pathogenesis of several inflammatory, autoimmune and malignant diseases .Endothelial damage and inflammation make a significant contribution to the pathophysiology of β-thalassemia. Purpose: The aim of the study was to assess serum VEGF level in children with beta-thalassemia major as a marker of angiogenesis. Methods: Blood samples were collected from 40 patients with thalassemia major and 10 healthy controls and assayed for VEGF by enzyme-linked immunosorbent assay. Results: VEGF level was significantly higher in patients with β-Thalassemia major than healthy controls (p=0.001).In addition, VEGF level was higher in splenectomised thalassemic patients than non splenectomised ones (p=0.001) .However, there were a positive correlation between VEGF and chelation starting age (p=0.008) and a negative correlation between VEGF and frequency of blood transfusion (p=0.002). Conclusion: thalassemia patients, especially splenectomized, have elevated serum levels of VEGF. Early chelation and regular blood transfusion help to decrease serum VEGF and the risk of angiogenesis.  

scholarly journals Serological and Molecular Diagnosis of Toxoplasma gondii Infections in Thalassemia Patients

2019 ◽  
Author(s):  
Hooman HANIFEHPOUR ◽  
Seyed Kamal SAMSAM SHARIAT ◽  
Mohammad Saleh GHAFARI ◽  
Farnaz KHEIRANDISH ◽  
Vafa SABER ◽  
...  
Keyword(s):  
Toxoplasma Gondii ◽  
Blood Transfusion ◽  
Molecular Diagnosis ◽  
Thalassemia Major ◽  
Healthy Controls ◽  
Toxoplasma Infection ◽  
Pcr Product ◽  
Related Risk ◽  
The Difference ◽  
Sag1 Gene

Background: This study aimed to the serological and molecular diagnosis of Toxoplasma gondii infections and related risk factors in patients with thalassemia major and healthy controls. Methods: This case-control study was performed in Shahrekord University of Medical Sciences, Shahrekord, west of Iran from Jan 2014 to Jan 2015. Overall, 235 patients with thalassemia major and 235 healthy controls were enrolled. Assessment of anti-Toxoplasma antibodies in sera samples was performed using commercial ELISA kits. In order to the molecular investigate of T. gondii in blood samples, a relatively new molecular assay, LAMP technique based on Toxoplasma SAG1 gene was conducted for the first time. The specificity of LAMP outer primers for the T. gondii detection was confirmed by sequencing the purified PCR product. Results: 51.9% of thalassemia patients and 34.8% of healthy controls were positive for anti-Toxoplasma IgG antibodies, which the difference was statistically significant (P<0.01). In terms of anti-Toxoplasma IgM antibody, 3.4% of thalassemia patients and 2.1% of healthy individuals were positive, which the difference was not statistically significant (P=1). Based on SAG1-LAMP, 9.78% of the thalassemia patients and 5.95% of healthy controls were positive for T. gondii DNA, which the difference was not statistically significant (P≤0.230). Conclusion: Thalassemia patients, probably due to repeated blood transfusion and consequently, immune deficiency, are at risk of transmitting Toxoplasma infection more than healthy people. Therefore, screening of Toxoplasma infection in blood transfusion centers may be effective in the prevention of toxoplasmosis in these patients.

A Comparative Study of Transfusion Reactions in the Thalassemia Patients before and after Implementation of the Hemovigilance System in Yazd Province, Iran

2020 ◽  
Author(s):  
Fatemeh Abbasinejad ◽  
Hayedeh Javadzadeh Shashshahani ◽  
Mahvash Akhavan Ghalibaf
Keyword(s):  
Blood Transfusion ◽  
Age Of Onset ◽  
Thalassemia Major ◽  
Blood Transfusions ◽  
Chi Square ◽  
Historical Cohort ◽  
Paired Samples ◽  
Before And After ◽  
Chi Square Test ◽  
Transfusion Reactions

Background: Patients with thalassemia major require frequent blood transfusions. Blood transfusion can lead to the adverse reactions. Reporting and evaluating the transfusion reactions are among the goals of implementing the hemovigilance system to improve blood recipients’ safety. This study aimed to compare the transfusion reactions in the thalassemia patients before and after implementation of the hemovigilance system in the Shahid Sadoughi Hospital in Yazd (Iran). Materials and Methods:  In this historical cohort study conducted in 2018, the data of 87 patients with thalassemia major including age, sex, the total number of blood transfusions before and after the implementation of hemovigilance system, information about the occurrence of blood transfusion reactions, type, and severity of each reaction were recorded in the questionnaire. Paired-Samples T-test and Chi-Square test were used for data analysis. Results: The mean age of the participants was equal to 19.69±8.41 years old and 52% of them were male. The age of onset of transfusion was 14.3±16.62 months with a range of 2 - 96 months. The relative frequency of transfusion reactions in the thalassemia patients was 0.74% and 0.81%, respectively before and after implementation of the hemovigilance system. Allergic (54%) and non-hemolytic febrile reactions (23%) were the most frequent transfusion reactions. Severe and life-threatening reactions were reported more frequently after implementation of the hemovigilance system compared to pre-implementation (p=0.007). Totally, 8% of the reactions were hemolytic reactions and 7.5% of the patients had unexpected alloantibodies identified after implementation of the hemovigilance system. Conclusion: Documentation and reporting of the transfusion reactions after implementation of the hemovigilance system have resulted in reporting of more severe reactions and determination of the clinically significant alloantibodies. Therefore, prevention of the subsequent reactions and increasing the safety of the blood transfusion for the thalassemia patients could be provided, emphasizing the continuation of the system.

Study the Relationship Between Estrogen Hormone and Calcium in Normal Females Before and After Menopause in Baghdad / Iraq

2018 ◽  
Vol 2 (1) ◽  
Author(s):  
Sameerah Mustafa ◽  
Asal Tawfeeq ◽  
Hadeel Hasan
Keyword(s):  
Oral Contraceptive ◽  
Healthy Controls ◽  
Serum Samples ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills ◽  
Menopausal Women ◽  
Before And After ◽  
Group A ◽  
Group B ◽  
Age Range

This study involved the collection of (90) samples of women serum which included (30) serum samples collected from women before menopause (reproductive women) in the age range of (22-43) years and were considered as (group A- control). While, (group B) included (30) serum samples collected from women using oral contraceptive pills between the ages of (22-43) years old. Whereas, another (30) serum samples were collected from women after menopause between the ages of (43-54) years and were considered as (group C). All of the collected serum samples were subjected to a number of serological and chemical tests for the measurement of (E2, HDL, LDL and Ca). Then, the obtained data were statistical analyzed and results showed a significant decrease (p˂ 0.05) in (E2 ,Ca and HDL) levels in menopausal women compared to that of the normal healthy controls. While, there were non-significant decrease (p> 0.05) in (E2, Ca and HDL) levels in women taking oral contraceptive when compared to the normal healthy controls. On the other hand, a significant increase (p˂ 0.05) was recorded in LDL level in menopausal women compared to that of the normal healthy controls whereas, no-significant increase (p˃ 0.05) in the LDL level in women taking oral contraceptives when compared to the control women.

scholarly journals OP0286 PROTEOMICS AND RNA SEQUENCING APPROACHES HIGHLIGHT THE ROLE OF ENDOTHELIAL CELL DYSREGULATION IN IL-1 AND IFN MEDIATED AUTOINFLAMMATORY DISEASES, NOMID AND CANDLE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 178-179
Author(s):  
S. Alehashemi ◽  
M. Garg ◽  
B. Sellers ◽  
A. De Jesus ◽  
A. Biancotto ◽  
...  
Keyword(s):  
Endothelial Cell ◽  
Whole Blood ◽  
Cell Activation ◽  
Immune Cell ◽  
Differentially Expressed ◽  
Neutrophilic Dermatosis ◽  
Healthy Controls ◽  
Differentially Expressed Proteins ◽  
Rna Seq ◽  
Before And After

Background:Systemic Autoinflammatory diseases present with sterile inflammation. NOMID (Neonatal-Onset Multisystem Inflammatory Disease) is caused by gain-of-function mutations inNLRP3and excess IL-1 production, presents with fever, neutrophilic dermatosis, aseptic meningitis, hearing loss and eye inflammation; CANDLE (Chronic Atypical Neutrophilic Dermatosis, Lipodystrophy and Elevated Temperature) is caused by loss-of-function mutations in proteasome genes that lead to type-1 interferon signaling, characterized by fever, panniculitis, lipodystrophy, cytopenia, systemic and pulmonary hypertension and basal ganglia calcification. IL-1 blockers are approved for NOMID and JAK-inhibitors show efficacy in CANDLE treatment.Objectives:We used proteomic analysis to compare differentially expressed proteins in active NOMID and CANDLE compared to healthy controls before and after treatment, and whole blood bulk RNA seq to identify the immune cell signatures.Methods:Serum samples from active NOMID (n=12) and CANDLE (n=7) before and after treatment (table 1) and age matched healthy controls (HC) (n=7) were profiled using the SomaLogic platform (n=1125 proteins). Differentially expressed proteins in NOMID and CANDLE were ranked after non-parametric tests for unpaired (NOMIDp<0.05, CANDLE,p<0.1) and paired (p<0.05) analysis and assessed by enriched Gene Ontology pathways and network visualization. Whole blood RNA seq was performed (NOMID=7, CANDLE=7, Controls =5) and RPKM values were used to assess immune cells signatures.Table 1.Patient’s characteristicsNOMIDN=12, Male =6CANDLEN=7, Male =6AgeMedian (range)12 (2, 28)16 (3, 20)Ethnicity%White (Hispanic)80 (20)100 (30)GeneticsNLRP3mutation(2 Somatic, 10 Germline)mutations in proteasome component genes(1 digenic, 6 Homozygous/compound Heterozygous)Before treatmentAfter treatmentBefore treatmentAfter treatmentCRPMedian (range) mg/L52 (16-110)5 (0-23)5 (0-101)1 (0-4)IFN scoremedian (range)0NA328 (211-1135)3 (0-548)Results:Compared to control, 205 proteins (127 upregulated, 78 downregulated) were significantly different at baseline in NOMID, compared to 163 proteins (101 upregulated, and 62 downregulated) in CANDLE. 134 dysregulated proteins (85 upregulated, 49 downregulated) overlapped in NOMID and CANDLE (Figure 1). Pathway analysis identified neutrophil and monocyte chemotaxis signature in both NOMID and CANDLE. NOMID patients had neutrophilia and active neutrophils. CANDLE patients exhibited active neutrophils in whole blood RNA. Endothelial cell activation was the most prominent non-hematopoietic signature and suggest distinct endothelial cell dysregulation in NOMID and CANDLE. In NOMID, the signature included neutrophil transmigration (SELE) endothelial cell motility in response to angiogenesis (HGF, VEGF), while in CANDLE the endothelial signatures included extracellular matrix protein deposition (COL8A) suggesting increased vascular stiffness. CANDLE patients had higher expression of Renin, 4 out of 7 had hypertension, NOMID patients did not have hypertension. Treatment with anakinra and baricitinib normalized 143 and 142 of dysregulated proteins in NOMID and CANDLE respectively.Conclusion:Differentially expressed proteins in NOMID and CANDLE are consistent with innate immune cell activation. Distinct endothelial cell signatures in NOMID and CANDLE may provide mechanistic insight into differences in vascular phenotypes. Treatment with anakinra and Baricitinib in NOMID and CANDLE leaves 30% and 13% of the dysregulated proteins unchanged.Acknowledgments:This work was supported by Intramural Research atNational Institute of Allergy Immunology and Infectious Diseases of National Institutes of Health, Bethesda, Maryland, the Center of Human Immunology and was approved by the IRB.Disclosure of Interests:None declared

scholarly journals Left Atrial Strain Identifies Increased Atrial Ectopy in Patients with Beta-Thalassemia Major

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 1
Author(s):  
Maria Vlachou ◽  
Vasileios Kamperidis ◽  
Efthymia Vlachaki ◽  
Georgios Tziatzios ◽  
Despoina Pantelidou ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Left Atrial ◽  
Systolic Pressure ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Tape Recording ◽  
Blood Transfusions ◽  
Systolic Strain ◽  
Peak Systolic Strain ◽  
Beta Thalassemia Major

Patients with beta-thalassemia major (β-ΤΜ) may develop cardiac arrhythmias through a multifactorial mechanism. The current study evaluated the association of cardiac structure and function on echocardiography with atrial ectopic burden on 24-hour tape recording in β-ΤΜ patients. This prospective study included consecutive β-ΤΜ patients. Demographic, laboratory, echocardiographic, cardiac magnetic resonance (CMR) T2* and 24-hour tape recording data were prospectively collected. The patients were classified according to the median value of premature atrial contractions (PACs) on 24-hour tape. In total, 50 β-TM patients (37.6 ± 9.1 years old, 50% male) were divided in 2 groups; PACs ≤ 24/day and > 24/day. Patients with PACs > 24/day were treated with blood transfusion for a longer period of time (39.0 ± 8.6 vs. 32.0 ± 8.9 years, p < 0.007), compared to their counterparts. Older age (OR: 1.121, 95% CI: 1.032–1.217, p = 0.007), longer duration of blood transfusion (OR:1.101, 95% CI:1.019–1.188, p = 0.014), larger LV end-diastolic diameter (OR: 4.522, 95% CI:1.009–20.280, p = 0.049), higher values of LA peak systolic strain (OR: 0.869, 95% CI: 0.783–0.964, p = 0.008), higher MV E/E′ average (OR: 1.407, 95% CI: 1.028–1.926, p = 0.033) and higher right ventricular systolic pressure (OR: 1.147, 95% CI: 1.039–1.266, p = 0.006) were univariably associated with PACs > 24/day. LA peak systolic strain remained significantly associated with PACs > 24/day after adjusting for the duration of blood transfusions or for CMR T2*. The multivariable model including blood transfusion duration and LA peak systolic strain was the most closely associated with PACs > 24/day. Receiver operating characteristic curve analysis identified a left atrial peak systolic strain of 31.5%, as the best cut-off value (83% sensitivity, 68% specificity) for prediction of PACs > 24/day. In β-TM patients, LA peak systolic strain was associated with the atrial arrhythmia burden independently to the duration of blood transfusions and CMR T2*.

scholarly journals Glutamate connectivity associations converge upon the salience network in schizophrenia and healthy controls

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Robert A. McCutcheon ◽  
Toby Pillinger ◽  
Maria Rogdaki ◽  
Juan Bustillo ◽  
Oliver D. Howes
Keyword(s):  
Functional Connectivity ◽  
Frontal Cortex ◽  
Network Connectivity ◽  
Resonance Spectroscopy ◽  
Salience Network ◽  
Healthy Controls ◽  
1H Mrs ◽  
Before And After ◽  
Functional Brain Networks ◽  
The Relationship

AbstractAlterations in cortical inter-areal functional connectivity, and aberrant glutamatergic signalling are implicated in the pathophysiology of schizophrenia but the relationship between the two is unclear. We used multimodal imaging to identify areas of convergence between the two systems. Two separate cohorts were examined, comprising 195 participants in total. All participants received resting state functional MRI to characterise functional brain networks and proton magnetic resonance spectroscopy (1H-MRS) to measure glutamate concentrations in the frontal cortex. Study A investigated the relationship between frontal cortex glutamate concentrations and network connectivity in individuals with schizophrenia and healthy controls. Study B also used 1H-MRS, and scanned individuals with schizophrenia and healthy controls before and after a challenge with the glutamatergic modulator riluzole, to investigate the relationship between changes in glutamate concentrations and changes in network connectivity. In both studies the network based statistic was used to probe associations between glutamate and connectivity, and glutamate associated networks were then characterised in terms of their overlap with canonical functional networks. Study A involved 76 individuals with schizophrenia and 82 controls, and identified a functional network negatively associated with glutamate concentrations that was concentrated within the salience network (p < 0.05) and did not differ significantly between patients and controls (p > 0.85). Study B involved 19 individuals with schizophrenia and 17 controls and found that increases in glutamate concentrations induced by riluzole were linked to increases in connectivity localised to the salience network (p < 0.05), and the relationship did not differ between patients and controls (p > 0.4). Frontal cortex glutamate concentrations are associated with inter-areal functional connectivity of a network that localises to the salience network. Changes in network connectivity in response to glutamate modulation show an opposite effect compared to the relationship observed at baseline, which may complicate pharmacological attempts to simultaneously correct glutamatergic and connectivity aberrations.

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