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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 Jun 30 2023
Journal Name
Diyala Journal Of Medicine
Correlation with renin-angiotensin-aldosterone and glomerular filtration rate in chronic renal failure patients
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Background: One of the more significant hormonal systems, the renin-angiotensin-aldosterone system, controls the kidney function, adrenal gland through its effect on the balance of sodium and potassium, blood pressure, fluid volume, and also manages the functions of cardiovascular. Objective: To clarify the interrelationship between renal dysfunction and renin-angiotensin-aldosterone system. Patients and Methods: One hundred samples were collected from December 1, 2022, to February 18, 2023, from Al Shams Medical Laboratories (56 male, and 44) female, age range (of 45-60 years), all of them were volunteers suffering from chronic renal failure in the third stage the average glomerular filtration rate was 35. 70 ± 0.37 12

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Publication Date
Thu Aug 22 2013
Journal Name
International Journal Of Dermatology
Skin tumors and skin infections in kidney transplant recipients vs. patients with pemphigus vulgaris
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Abstract<sec><title>Background

Pemphigus vulgaris is an autoimmune disease of the skin and mucous membrane. Renal transplantation is a common procedure in Iraq, and these patients required prolonged use of immunosuppressive drugs.

Objective

To study the frequency of skin tumors and infections in patients with pemphigus vulgaris compared with renal transplant recipients and normal controls.

Patients and methods

One hundred kidney transplant recipients, their ages ranged from 14 to 70 (46.65 ± 4.74) years

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Publication Date
Tue Dec 01 2020
Journal Name
Systematic Reviews In Pharmacy)srp)
Evaluation the response to infliximab therapy in patients with ulcerative colitis and crohn's disease
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Publication Date
Wed Jan 08 2020
Journal Name
Nursing &amp; Health Sciences
Medication adherence and predictive factors in patients with cardiovascular disease: A cross‐sectional study
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Abstract<p>Adherence to cardiac medications makes a significant contribution to avoidance of morbidity and premature mortality in patients with cardiovascular disease. This quantitative study used cross‐sectional survey design to evaluate medication adherence and contributing factors among patients with cardiovascular disease, comparing patients who were admitted to a cardiac ward (<italic>n</italic> = 89) and those attending outpatient cardiac rehabilitation (<italic>n</italic> = 31) in Australia. Data collection was completed between October 2016 and December 2017. Descriptive and regression analyses were conducted to identify medication adherence and determine factors independently pred</p> ... Show More
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Publication Date
Mon Jul 04 2022
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
The Correlation between Insulin Resistance and Urotensin II in Patients with Gestational Diabetes Mellitus
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Gestational diabetes mellitus is glucose intolerance of varying degree with onset or first detection duringpregnancy,it can causelong and short term morbidities in both the mother and the child, such as shoulder dystocia,preeclampsia, and high blood pressure. The most powerful endogenous vasoconstrictor peptide, urotensin II, andits receptor are involved in the etiology of gestational diabetes mellitus.Aim of the study: The study’s goal was to see if there is a link between Urotensin II levels and insulin resistancein pregnant women with gestational diabetes.Patients and method: A case-control study that was conducted in obstetrics and gynecology department atBaghdad Teaching hospital from the first of January 2019 to the end of D

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Publication Date
Tue Jan 01 2019
Journal Name
Diabetes &amp; Metabolic Syndrome: Clinical Research &amp; Reviews
Nephrotic range proteinuria; does it predict lung involvement in patients with type 2 diabetes
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Publication Date
Sun Dec 04 2016
Journal Name
Baghdad Science Journal
Biochemical Study on Anti Thyroid Peroxidase in Type 2 Diabetic patients with thyroid disorders
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Type 2 diabetes mellitus (T2DM) is the most frequent endocrinal disease commonly associated with thyroid disorders .The study is conducted at the Specialized Center for Endocrinology and Diabetes in Baghdad ,during December 2014 up to October 2015.This study was done to investigate the prevalence of anti- thyroid peroxidase (Anti-TPO) antibody in patients suffered from type 2 diabetes with thyroid disorders .The study groups included a total number of 80 subjects consisting of 60 type 2 diabetic patients divided into 20 hyperthyroidism subjects (group 1) ,20 hypothyroidism subjects (group 2), 20 euthyroidism subjects (group 3) and 20 healthy controls (group 4) . The fasting blood samples were analyzed for (T3,T4,TSH) by using Vitek Immuno d

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Publication Date
Sun Jan 01 2017
Journal Name
Journal Of Research In Medical Sciences
Procalcitonin levels and other biochemical parameters in patients with or without diabetic foot complications
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Publication Date
Thu Dec 31 2020
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
EVALUATING THE QUALITY OF IMPORTED AND LOCAL FLOUR IN TERMS OF QUALITY WITH IRON AND FOLIC ACID AND ITS COMPLIANCE WITH IRAQI STANDARD: EVALUATING THE QUALITY OF IMPORTED AND LOCAL FLOUR IN TERMS OF QUALITY WITH IRON AND FOLIC ACID AND ITS COMPLIANCE WITH IRAQI STANDARD
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Food fortification has an important and necessary role in compensating for the shortage of nutritional micronutrients, especially in developing and least developed countries. So, 12 samples of flour available in the local market, whether imported or locally produced flour, were obtained during 2019. The amount of base metal of the necessary iron element in the flour models studied which are available in local markets, measured by spot testing and was compared with the values ​​that should be added according to the specification Iraqi standard. Results revealed the qualitative evaluation of iron in locally produced flour does not conform to the Iraqi standard and is almost free of any reinforcement. While the percentage of imp

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Clinical And Experimental Dentistry
Prevalence of periapical lesions in non-endodontically and endodontically treated teeth in an urban Iraqi adult subpopulation: A retrospective CBCT analysis
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