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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Tue May 11 2021
Journal Name
Research J. Pharm. And Tech
Association of Serum Renal Function Levels with Heart Failure Disease in Iraqi Patients
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Renal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si

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Publication Date
Tue Jan 01 2019
Journal Name
Annals Of Tropical Medicine And Public Health
Arlyesterase activity of Paraoxonase-1 enzyme in Iraqi patients with β-thalassemia minor
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Background: Arylesterase activity of Paraoxonase-1 (ARE-PON-1) exhibits an antioxidant role which protects lipoprotein from oxidation. It is known that ARE-PON-1 antioxidant activity associated with high density lipoprotein cholesterol (HDL-C) reduces the oxidative damage mediated by low density lipoprotein cholesterol (LDL-C). The present study was aimed to examine the level of serum ARE-PON1 in Iraqi patients with β-thalassemia minor and its relationship with lipid profile (total cholesterol (TC), HDL-C, very low density lipoprotein (VLDL-C), and LDL-C) and hematologic changes as a part of antioxidant system action. Methods: In the present study, the ARE-PON-1 activity was investigated in serum of patients with β-thalassemia minor. Resu

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Publication Date
Mon Jan 01 2018
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Seroprevalence of Hepatitis B markers in Iraqi patients with chronic Hepatitis B virus
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To determine the seroprevalence of hepatitis B markers in chronic hepatitis B patients, 75 patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared with 50 apparently healthy individuals. All the studied groups were carried out to measure (HBsAg), (HBsAb), (HBeAg), (HBeAb), and (Total HBcAb) by Enzyme linked immunosorbent assay (ELISA) technique. The percentage distribution of HBsAg was (86.67%) and HBsAb was (1.33%) in sera of CHB patients and there were a highly significant differences (P<0.01) when compared between studied groups, while, the percentage distribution of HBeAg was (22.67%) in sera of CHB patients and the significant represent the difference in distribution of HBeAg as infection but no

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Publication Date
Thu Apr 13 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation of IL-35 and hs-CRP in Iraqi Patients with Cardiovascular diseases
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    Interleukin-35 (IL-35) is a novel anti-inflammatory of IL-12 family member cytokine. High sensitive C- reactive protein (hs-CRP) is a marker of inflammation disease. This study was obtained to estimate the concentrations of IL-35 and hs-CRP in cardiovascular diseases Iraqi patients. The study contained 79 subjects divided into two groups, 47 (21 male and 26 female) suffering from cardiovascular diseases and 32 as control group. The concentration of IL-35 and hs-CRP was measured by enzyme- linked immune sorbent assay (ELISA). The results revealed that the concentrations of IL-35 and hs-CRP are increased in patients group. IL-35 is strongly expressed in human advanced plaque and hs-CRP. Therefore these two biomarkers cou

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Publication Date
Mon Jan 01 2018
Journal Name
Indian Journal Of Public Health Research &amp; Development
Immunohistochemical Expression of CDX2 Protein in Iraqi Patients with Human Gastric Cancer (HGC)
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This study aimed to evaluate the IHC expression of CDX2 protein in HGC patients and control groups and also to study the correlation between IHC expression of the CDX2 and different clinicopathological variables such as: age, gender, histopathological subtype, grade, and stage of the tumor in HGC cases. the retrospectively sectional study for the period from 2014 to 2018 included a total of 60 formalin fixed paraffin embedded blocks of the HGC tissue (partial or total gastrectomy specimens) that collected from the archived materials of the Department of Pathology of Baghdad Teaching Hospital and the Center of Gastrointestinal and Hepatic Diseases, and also some samples were collected from other private laboratories. The IHC expression of th

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Publication Date
Sun Mar 03 2013
Journal Name
Baghdad Science Journal
The Association of Myasthenia Gravis with HLA class II Antigens in Iraqi Patients
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The nature and intensity of the association of myasthenia gravis (MG) with distinct human leukocyte antigen (HLA) haplotypes differ between ethnic populations, so this study determined the association of HLA class II antigens with myasthenia gravis (MG) in Iraq.The study included Iraqi patients diagnosed with MG and two control groups the first of 54 insulin dependent diabetes mellitus patients and the second of 237 subjects as a normal control group. The test used was microlymphocytotoxicity test.The work was done in the Teaching Laboratories/Medical City/Baghdad.Results: positive associations were observed (etiological risk factors) as follows: 1. HLA-DR locus showed one positively associated allele when compared to healthy control and th

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Publication Date
Sun Apr 30 2023
Journal Name
Iraqi Journal Of Science
Genetic Polymorphism of TLR5 and TLP6 in Iraqi Patients with Heart Failure Disease
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       In spite of the high rate of morbidity and mortality heart failure (HF) is common, and none of the medications are now entirely available for HF treatment. In addition to many environmental influences and clinical diseases, genetic factors may also contribute to the progression and development of HF.  In the current study, samples of blood were collected from 150 heart failure patients and 130 healthy controls. We evaluated the association of four single nucleotide polymorphisms (snps) of Toll-like receptors (TLR6 and TLR5) with (HF) susceptibility in the Iraqi population. In this work, (SNP) called Toll-like receptor 5 (rs5744168, rs2072493) and Toll-like receptor 6 (rs1039559, rs5743810) were employed. (PCR-RFLP) for snps

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Publication Date
Thu Jan 07 2016
Journal Name
Ibn Al-haitham Jour. For Pure & Appl. Sci.
Determination of Some Trace Element Levels in Iraqi Male patients with Colorectal Cancer
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Alterations of trace element concentrations adversely affect biological processes and could promote carcinogenesis. Trace element deficiency or excess is implicated in the development or progression of some cancers like colorectal cancer. The aim of the present study was to compare the serum copper (Cu) and zinc (Zn) concentrations in patients with colorectal cancer from Iraqi male patient with those of healthy subjects. During the period of March 2015 until august 2015, a total of 25 patients with metastatic colon cancer and 20 healthy volunteers were enrolled from the Al-Kadhimia Teaching Hospital after the diagnosis using a histopathological examination for the malignant tumor; their age was between (38-60) years. Higher levels o

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Publication Date
Sat Mar 11 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Determination of Some Trace Element Levels in Iraqi Male patients with Colorectal Cancer
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   Alterations of trace element concentrations adversely affect biological processes and could promote carcinogenesis. Trace element deficiency or excess is implicated in the development or progression of some cancers like colorectal cancer. The aim of the present study was to compare the serum copper (Cu) and zinc (Zn) concentrations in patients with colorectal cancer from Iraqi male patient with those of healthy subjects. During the period of March 2015 until august 2015, a total of 25 patients with metastatic colon cancer and 20 healthy volunteers were enrolled from the Al-Kadhimia Teaching Hospital after the diagnosis using a histopathological examination for the malignant tumor; their age was between (38-60) years. Higher

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Publication Date
Sun Oct 01 2023
Journal Name
Baghdad Science Journal
Estimation of Apelin Levels in Iraqi Patients with Type II Diabetic Peripheral Neuropathy
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Diabetes mellitus type 2 (T2DM) is a chronic and progressive condition, which affects people all around the world. The risk of complications increases with age if the disease is not managed properly. Diabetic neuropathy is caused by excessive blood glucose and lipid levels, resulting in nerve damage. Apelin is a peptide hormone that is found in different human organs, including the central nervous system and adipose tissue. The aim of this study is to estimate Apelin levels in diabetes type 2 and Diabetic peripheral Neuropathy (DPN) Iraqi patients and show the extent of peripheral nerve damage. The current study included 120 participants: 40 patients with Diabetes Mellitus, 40 patients with Diabetic peripheral Neuropathy, and 40 healthy

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