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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 Jan 01 2019
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Immunohistochemical Assessment of SOX2 Expression in Iraqi Patients with Gastric Carcinoma (GC)
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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Assessment of lipid profile with HbA1c in type 2 diabetic Iraqi patients
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Insulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes ‎(T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences.‎ This study aimed to find the relationship between Glycated hemoglobin (HbA1c) ‎and lipid profile components in T2DM‎ patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in ‎Medical City in Baghdad be

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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Assessment of lipid profile with HbA1c in type 2 diabetic Iraqi patients
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Insulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes ‎(T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences.‎ This study aimed to find the relationship between Glycated hemoglobin (HbA1c) ‎and lipid profile components in T2DM‎ patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in ‎Medical City in Ba

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
White Spot Lesions Among Patients Treated With Fixed Orthodontic Appliance at Different Time Intervals
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ABSTRACT Background:- White spot lesions are common esthetic problem that compromise the success of orthodontic treatment. This study aimed to assess white spot lesions in patients with fixed orthodontic appliance at different time intervals. Materials & Methods:- Thirty two patients (24 females and 8 males) were included in this study and they underwent clinical examination for white spot lesions using enamel decalcification index at four time intervals: (2-3 weeks after appliance insertion, 2, 4 and 6 months). Results:- The patients were free of white spot lesions at the appliance insertion visit. The mean of white spot lesions was 2.22 which were increased significantly during six months to reach 24.59 at the end of study. There was a si

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Publication Date
Tue Jul 05 2022
Journal Name
Journal Of Pharmaceutical Care
Epidemiological and Clinical Factors Affecting the Response to Etanercept Among Patients with Rheumatoid Arthritis
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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Interleukin-2 serum level, genetic polymorphism (rs2069763), anti-rubella antibody and risk of multiple sclerosis among Iraqi patients
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Background: Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease mediated by autoreactive T cells against myelin-basic proteins. Cytokines are suggested to play a role in the etiopathogenesis of the disease. Among these cytokines is interleukin-2 (IL-2). Aim of the study: To investigate the association between IL2+166 G/T single nucleotide polymorphism (SNP: rs2069763) and MS in Iraqi patients. Serum level of IL-2 was also detected. Anti-rubella IgG antibody was further determined in the sera of patients. Patients and methods: Eighty MS patients (28 males and 52 females; age mean ± SD: 39.2 ± 16.1 years) and 80 healthy control matched patients for age (32.15 ± 16.13 years) and gender (28 males and 52 females) were en

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Publication Date
Sun Dec 30 2012
Journal Name
Al-kindy College Medical Journal
Human Leukocyte Antigens Assosiation with Systemic Lupus Arythematosus In Iraqi Patients
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Background: The etiology of Systemic lupus erythematosus seems to be multifactorial including environmental as well as genetic factors. The genetic predisposition was supported by the occurrence of Systemic lupus erythematosus in more than one member of a family as well as in identical twins.
Aim of the study: To determine the human leukocyte antigen typing class I (A and B) in patients with Systemic Lupus Erythematousus disease.
Methods: Patients group consisted of 44 Iraqi Arab Muslims patients with Systemic lupus erythematosus disease who presented to Baghdad Medical City from January 2010 to January 2012 from Baghdad Province. The second control group consisted from 80 Iraqi Arab Muslims volunteers from hospital employees and t

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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)
Assessment of Quality of Life in a Sample of Iraqi Patients with Psoriasis.
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Psoriasis is a dermatological, chronic, immune-mediated condition. Psoriasis symptoms are not associated with physical burden only, but it may also have psychosocial effects on patients, diminished cognitive control, poor body image and impairments in everyday life. The value of quality of life is important since improving it is the principal goal for non-curative disease. The aim of the current study was to evaluate quality of life in a sample of Iraqi patients with psoriasis. This study is a cross-sectional study that involved 300 already diagnosed psoriasis patients who attended to the center of Dermatology and Venereology, Medical City/Baghdad. The mean age of patients was (35.156 ±10.549 years). The Arabic version of Dermatology Li

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Publication Date
Wed Sep 18 2024
Journal Name
World Academy Of Sciences Journal
Impact of gene expression of NFE2L2 on serum superoxide dismutase and hemeoxygenase‑1 levels in patients with type 2 diabetes and retinopathy
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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Serum Adropin and Apelin as Potential Markers PredictingAcute Heart Failure-associated Renal Dysfunction among Elderly Iraqi Patients
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