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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
Fri Feb 01 2013
Journal Name
Ijbpas
THE POSSIBLE RELATIONSHIP BETWEEN SERUM TUMOR NECROSIS FACTOR ALPHA LEVEL AND THE RECOVERY OF PATIENTS WITH PULMONARY TUBERCULOSIS
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Mycobacterium tuberculosis is the cause of the major world health issue, tuberculosis (TB). The cytokine, tumor necrosis factor alpha (TNF-α) has been implicated in protection against TB in the early stages of the disease. TNF-α is an effective cytokine in the killing of intracellular M. tuberculosis. This study inducted to investigate whether there is any relationship between levels of TNF-α in sera of TB patients and their recovery, and is there any difference in the level of this cytokine in sera of female and male TB patients. This study included 29 patients with pulmonary TB (18 female and 11 male), their ages ranging from 37 to 59 years. All of them received first line TB therapy. They were consulted at Pasture Center during Septem

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Publication Date
Fri Apr 07 2017
Journal Name
Oncology Letters
AURKA mRNA expression is an independent predictor of poor prognosis in patients with non-small cell lung cancer
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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Natural Sciences Research
Genetic Study for G-Protein Coupled Receptor from Saccharomyces Cerervisiae and From Sera of Patients with Heart Thrombosis
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Aim of the present study is Identification of specific gene for GPCR using specific primers .and identification of difference in PCR analysis in patients with heart thrombosis and compared with healthy, Sequencing of PCR product regarding GPCR compared for all three subject, Identification the similarity of human GPCR with local strain of yeast fifty healthy control and fifty patients with thrombosis which diagnosed medically with cardiac specific troponin t, troponin 1 levels and electro myocardiogram ECG. The aged for all subjects ranged (39-75) years patients were lying in cardiac care unit at Ibn- al- Nafees teaching hospital and Sheikh Zayed teaching hospital. Genomic DNA of whole blood was extracted from buffy coat and cell cu

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Publication Date
Sat May 01 2021
Journal Name
European Journal Of General Dentistry
Assessment of Serum Interleukin-1β and Interleukin-6 Levels in Patients with Chronic Periodontitis and Coronary Heart Disease
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Abstract<p> Objective The aim of this study was to assess whether serum cytokine levels correlate with clinical periodontal parameters in health or disease.</p><p> Materials and Methods Male subjects (40–60 years) with CP (n = 30), CP + CHD (n = 30), and healthy controls (n = 20) had plaque index (PLI), gingival index (GI), bleeding on probing, probing pocket depth (PPD), and clinical attachment level (CAL) evaluated. Serum IL-1β and IL-6 levels were quantified using enzyme-linked immunosorbent assay.</p><p> Results PLI, GI, PPD, and CAL were significantly higher in patients with CP + CHD compared to those with CP. Serum levels of IL-1β and IL-6 were also si</p> ... Show More
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Publication Date
Mon Jul 01 2024
Journal Name
Journal Of Applied Hematology
Impact of Plasma Focal Adhesion Kinase, Ephrin Receptor Type A4, and Adiponectin in Patients with Acute Myeloid Leukemia
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Abstract<sec> <title>BACKGROUND:

Focal adhesion kinase (FAK), ephrin receptor type A4 (EphA4), and adiponectin (ADPN) are important indicators in inflammation, tumor growth, migration, and angiogenesis in some cancers. The predictive impact of their concentrations in acute myeloid leukemia (AML) patients to be identified remains. The research sought to explore the effect of FAK, EphA4, and ADPN as prognostic biomarkers, and their influence on patient survival, and to look for any potential correlation between their levels with hematological parameters in AML patients.

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Publication Date
Sun Dec 21 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Estimation of some salivary variables and oral health status of patients with chronic myeloid leukemia aged 45-55 years
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Background: Chronic myeloid leukemia is a cancer of the white blood cells characterized by the increased and unregulated growth of predominantly myeloid cells in the bone marrow. This study aimed to determine the effect of chronic myeloid leukemia on Dental caries and Oral health status including Gingivitis, Loss of attachment, Plaque index and Calculus index as well as evaluation of salivary flow rate and salivary interleukins-6 and tumor necrosis factor-?. Material and methods: Study group consisted of (75) subjects, (25) were newly diagnosed with chronic myeloid leukemia, (25) were taking medications (Glevic), and (25) were control subjects, all ag

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Publication Date
Thu Dec 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of serum levels of monocyte chemoattractant protein 1 (MCP 1) in patients with periodontitis and atherosclerotic cardiovascular disease
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Background: Monocyte chemotactic protein-1 (MCP-1) is a chemokine expressed by inflammatory and endothelial cells. It has a crucial role in initiating, regulating, and mobilizing monocytes to active sites of periodontal inflammation. Its expression is also elevated in response to pro-inflammatory stimuli and tissue injury, both of which are linked to atherosclerotic lesions. Aim of the study: To determine the serum level of MCP-1 in patients with periodontitis and atherosclerotic cardiovascular disease in comparison to healthy control and evaluate the biomarker's correlations with periodontal parameters. methods: This study enrolled 88 subjects, both males and females, ranging in age from 36-66 years old, and divided into four groups: 1<

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Effect of varicocelectomy on sperm parameters, oxidative stress and Chromatin maturity in seminal fluid of infertile patients with varicocele
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This study aimed to determine the effect of varicocelectomy on sperm parameters, oxidant- antioxidant status and chromatin maturity percent. The current study has been conducted on 154 infertile patients complaining from varicocele and varicocelomized men in addition to 25 fertile men as control. The results revealed significant decrease (P<0.05) in sperm concentration, progressive motile sperm percent, normal sperm morphology percent, GSH, SOD1, CAT levels and chromatin maturity percent and significant increase (P<0.05) in MDA and ROS concentrations in infertile patients with varicocele when compared to fertile men. The results revealed improvement (P<0.05) of sperm parameters quality, GSH, SOD1, CAT, MDA, ROS concentration and chromatin m

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Publication Date
Wed May 12 2021
Journal Name
Annals Of The Romanian Society For Cell Biology
The Effect of Rehabilitation Exercises Preceded by Reflexology Technique in the Rehabilitation of Patients with Frozen Shoulder: Experimental Research
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Shoulder immobilization is one of the injuries that lead to disability and loss of movement in the joint within a short time, which called the researchers to find appropriate therapeutic means to rehabilitate this injury. They prepared a rehabilitation program accompanying the reflexology technique to rehabilitate the injury of the immobilized shoulder of the small degree and improve the range of movement and muscle strength working on the shoulder joint The sample was selected from the male patients aged (40-50) years. The muscle strength test was used using the force sensor, the shoulder range test from the flexion and extension position and the visual analog test to measure the level of pain. The study concluded that the pre-rehabilitati

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Publication Date
Sat Jun 15 2024
Journal Name
Obstetrics & Gynaecology Forum
THE ROLE OF FUNGAL INFECTIONS IN THE PATHOGENESIS OF DIALYSIS-DEPENDENT AND NON-DIALYSIS-DEPENDENT PATIENTS WITH KIDNEY DISEASE
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Abstract The results of isolation, morphological and microscopic diagnosis, Chromic Agar, Vitik technology and Bact Alert showed that the diagnosis of fungi isolated from blood samples of end-stage renal patients who did not undergo dialysis and those who underwent dialysis was 60 samples for each type. The total number of fungal isolates isolated from people who did not undergo dialysis was 26 pathogenic fungal isolates, with a percentage frequency of 43.33%. In this study, 4 genera of pathogenic fungi were identified: Candida spp, Rhodotorula spp, Cryptococcus spp. and Aspergillus spp. The number of Candida isolates reached 13 isolates, with a frequency of 50%. The results also showed that the diagnosed species from the genus Rhodotorula

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