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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 Dec 07 2018
Journal Name
Asian Journal Of Pharmaceutical And Clinical Research
IMMUNOHISTOCHEMICAL EXPRESSION OF THE PROMISING THERAPEUTIC TARGET (HUMAN EPIDERMAL GROWTH FACTOR RECEPTOR 2/NEU) IN IRAQI PATIENTS WITH MEDULLOBLASTOMA
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Objectives: With the advent of ongoing novel modalities toward the treatment of human epidermal growth factor receptor 2 (HER2)/NEU - positive malignancies, the serious side effects of chemoradiotherapy have been minimized. Hence, this study was conducted to identify the patterns of immunohistochemical expression of the promising therapeutic target (HER2/NEU) among Iraqi patients with medulloblastoma in an attempt to provide basic histological information’s that would help in future clinical researches.Materials and Methods: In this retrospective study, 42 formalin - fixed paraffin - embedded tissue blocks represent cases of surgically removed medulloblastomas were retrieved from the archived materials in a specialized surgical ho

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Publication Date
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For Cell Biology
Evaluation of Nesfatin – 1 and Other Biochemical Markers in diabetic Neuropathy Iraqi patients before and after treatment with tegretol
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Diabetic neuropathy is a form of nerve damage that can occur in people who have diabetes. High blood sugar (glucose) induced nerve damage in every part of the body. The nerves in the legs and feet were the most frequently affected. The extent to which a diabetic patient's body is impaired is calculated by the degree of nervosa harm.The purpose of this present study is estimation BMI,IL-10 , nesfatin-1 and HS-CRP in Iraqi DN patients before and after treatment via tegretol as well as it is the first study sheds light on the relationship between Nesfatin -1 and other parameters ( BMI,IL-10 and HS-CRP) also predication of Nesfatin-1 as a newly biomarker in patients with diabetic neuropathy. The present study consist of from 30 cohort G1 as hea

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Publication Date
Sun Mar 24 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Correlation between Therapeutic Drug Monitoring of Infliximab Serum Trough Levels and other Biomarkers in Iraqi Patients with Crohn's Disease
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Background: Inflammatory bowel disease (IBD) is a collection of chronic, recurrent inflammatory illnesses of the gastrointestinal system, including Crohn's disease (CD). Infliximab is one of the biological medications used to treat CD. Therapeutic drug monitoring has evolved as a treatment in IBD, aiming to optimize benefit while meeting more demanding, objective end criteria. Objective: To determine the achievement of target trough level (TL), develop anti-drug antibodies (ADAs) to infliximab, assess response to therapy, and study TL relations with different variables. Methods: The present study was cross-sectional and conducted from May 2022 to November 2022. It included 40 CD patients allotted into 2 groups: group 1 patients ach

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Insulin Like Growth Factor Binding Protein 7 as a Novel Diagnostic Marker in Sera of Iraqi Patients with Acromegaly
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The purpose of this study was to measure serum levels of insulin-like growth factor-binding protein (IGFBP7), Insulin-like Growth Factor 1 (IGF-1), Growth Hormone (GH), Interleukin 6 (IL-6) and insulin in acromegaly patients and healthy controls. The acromegaly group had 60 patients, while the population group had 30 people who had never had acromegaly before. The concentration of IGFBP7, IGF-1, GH, IL-6, and insulin were determined. The results of the present study indicate that IGFBP7 level in the acromegaly group was significantly lower (1.690.07 ng/mL vs. 2.740.12 ng/mL, respectively, p = 0.001). IGF-1, GH, IL-6, and insulin concentrations were also significantly higher in acromegaly patients. The diagnostic accuracy (2.194) was exce

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Publication Date
Wed Dec 30 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Association of Retinol Binding Protein- 4 (RBP4) with Glycemia, Dyslipidemia, Hypertension, and Obesity in Type 2 Diabetic Iraqi Patients
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Abstract:

Background: Retinol binding protein 4 (RBP4), an adipokine that participate in a lipid metabolism or insulin resistance through a complex regulatory network. Recently, RBP4 was reported to be associated with many cardiovascular diseases (CVDs) risk factors in patients of type 2 diabetes mellitus (T2DM). This study aims to study the correlation of  serum RBP4 with some markers of glycemic control, dyslipidemia, hypertension and obesity in T2DM Iraqi patients.

Subjects and Methods: one hundred fifty participants were enrolled in this coss-sectional study, 120 of participants were T2DM patients and 30 were apparently healthy individuals to serve as control gro

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Publication Date
Wed Sep 27 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Genetic Polymorphism in TNF-α Promoter Region: Its Association with Severity and Susceptibility to Rheumatoid Arthritis in Iraqi Patients with Active Disease
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Objectives: To study the prevalence of rs1799964 (-1031 T/C) and rs361525 (- 238 G/A) SNPs and their effect on the disease activity, severity, and cytokines production in newly diagnosed Iraqi rheumatoid arthritis patients. Patients and Methods: sixty-three patients were diagnosed by a specialist physician while attending the rheumatology unit and twenty control participated. The inflammatory markers were measured and PCR amplification and sequencing were performed to demonstrate TNF-α SNPs. Results: Regarding (-1031 C/T) SNP, the TT genotype and allele C were significantly present in the controls, and the CT genotype was distributed significantly in the patients. The TT genotype was mostly distributed in the mild-moder

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Publication Date
Sun Apr 30 2023
Journal Name
Iraqi Journal Of Science
An Evolutionary Algorithm with Gene Ontology-Aware Crossover Operator for Protein Complex Detection
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     Evolutionary algorithms (EAs), as global search methods, are proved to be more robust than their counterpart local heuristics for detecting protein complexes in protein-protein interaction (PPI) networks. Typically, the source of robustness of these EAs comes from their components and parameters. These components are solution representation, selection, crossover, and mutation. Unfortunately, almost all EA based complex detection methods suggested in the literature were designed with only canonical or traditional components. Further, topological structure of the protein network is the main information that is used in the design of almost all such components. The main contribution of this paper is to formulate a more robust E

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Publication Date
Thu Jan 01 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Photogrammetric analysis of facial soft tissue profile of Iraqi adults sample with Class I normal occlusion: (A cross sectional study)
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Background: The purposes of this study were to determine the photogrammetric soft tissue facial profile measurements for Iraqi adults sample with class I normal occlusion using Standardized photographic techniques and to verify the existence of possible gender differences. Materials and methods: Eighty Iraqi adult subjects (40 males and 40 females) with an age ranged between 18-25 years having class I normal occlusion were chosen for this study. Each individual was subjected to clinical examination and digital standardized right side photographic records were taken in the natural head position which is mirror position which the patient looking straight into his eyes into the mirror mounted on the stand. The photographs were analyzed using A

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Publication Date
Sun Mar 01 2026
Journal Name
Journal Of Molecular Structure
Synthesis, characterization, DFT calculations, molecular docking, ADMET analysis and biological activity of Schiff base metal complexes against colon cancer cells
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Publication Date
Sun Sep 08 2024
Journal Name
Journal Of Ecohumanism
Academic Problems Among Iraqi University Professors: An Analytical Study
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The research aims to detect the problems of educational reality faced by university professors and identify statistically significant differences in the academic problems of university instructors. It has adopted an analytical descriptive research approach to achieve research objectives and identifies the study community with professors of public and private universities. A random sample of 250 instructors was selected for the purpose of applying the questionnaire to them, knowing the academic problems encountered in the course of their work at universities, and adopting appropriate statistical means to process and analyze the data. The research concluded with a set of results, including that all fields (infrastructure, admission of

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