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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Mon Jan 01 2018
Journal Name
Ibn Al-haitham Jour.for Pure & Appl.sci.
Determination of Osteocalcin, Bone Alkaline Phosphatase, and Lysyl Oxidase in Iraqi Acromegalic Patients
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This study was aimed to determine bone formation markers (OST and BALP) and lysyl oxidase in diabetes and non-diabetes Iraqi acromegaly patients in addition to find the relationship among these parameters. The present study conducted 60 acromegalic patients (30 diabetes & 30 non diabetes) attending National Diabetes Center / AL-Mustansiriya University/Baghdad, and 30 healthy individuals as a control group aged (35-60) years. All patients were administrated Sandostatin drug, and they were diagnosed by physician in the hospital.FBG, GH, IGF-1, OST, BALP, and LOX were determined in all groups. The results showed a highly significant rise in all parameters (GH, IGF-1, FBG, OST, BALP, and LOX values in serum of all patients when compared with n

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Publication Date
Fri Oct 11 2019
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Immunohistochemical Expression of Epidermal Growth Factor Receptor in Astrocytic Tumors in Iraqi Patients
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BACKGROUND: Diffuse astrocytomas constitute the largest group of primary malignant human intracranial tumours. They are classified by the World Health Organization (WHO) into three histological malignancy grades: diffuse astrocytomas (grade II), anaplastic astrocytomas (grade III) and glioblastoma (grade IV) based on histopathological features such as cellular atypia, mitotic activity, necrosis and microvascular proliferation. Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane tyrosine kinase receptor expressed in a variety of normal and malignant cells regulating critical cellular processes. When activated, epidermal growth factor receptor (EGFR) triggers several signalling cascades leading to increased proliferatio

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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
Sun Jun 01 2014
Journal Name
Journal Of Natural Science Research
Sialic Acid Is A Novel Biochemical Marker In Sera Of Iraqi Endometriotic Patients
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ABSTRACT : Alzheimer’s disease (AD) is one of the most common inflammatory neurodegenerative diseases linked with dementia, it is characterized by the deposition of amyloid beta-peptide (Ab) in the brain. The present study aims to innovate a biochemical relationship between AD and interleukin 38 (IL-38) as an anti-inflammatory cytokine, expose novel mechanisms and concepts regarding other biochemical parameters studied previously or recently in AD patients and also examine the biochemical action of memantine (10 mg daily) on AD patients. Sixty (60) diagnosed AD patients participated in the present study and classified into four (4) groups: G3 were composed of (15) newly diagnosed males (52-78) years / without treatment, G4 composed of (15

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Publication Date
Tue May 01 2018
Journal Name
International Journal Of Medical Research & Health Sciences
Estimation of Serum Matrix Metalloproteinases-1 Levels in Iraqi Female Patients with Osteoarthritis
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This study was established to investigate the correlation between the expression of matrix metalloproteinases (MMP-1) and the pathogenesis of osteoarthritis (OA). Blood samples were collected from 55 female patients with inflammatory OA and controls for estimation of serum (MMP-1) levels. In the current study, there is significant increase (p<0.001) in the mean of serum MMP-1 levels in osteoarthritis females (4027.73 ± 1345.28 pg/ml) than that in control females (798.76 ± 136.79 pg/ml). It was concluded that MMP-1 may be associated with the pathogenesis of osteoarthritis.

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
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
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
Thu Apr 01 2021
Journal Name
Biochem. Cell. Arch
STUDY ON THE MUTATION OF ASXL1 IN ACUTE MYELOID LEUKEMIA IN IRAQI PATIENTS
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The present study was designed to shed light on the molecular effects caused by acute myeloid leukemia (AML). It was also aimed to investigate ASXL1 point mutations in newly AML patients as compared to healthy control. The study comprised of 43 AML Iraqi patients and their ages ranged between 16-75 years. It included 23 females and 20 males compared with 20 healthy controls. Results revealed that the extracted DNA from 30 AML patients and amplified by PCR to obtain ASXL1 gene from exon 12 showed larger bands (479). Among forty three patients, two of them displayed point mutations of deletion and substitution, while the others were normal since no mutations were detected. The total of mutations in two mutated patients was 27 mutations, the m

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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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