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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
Thu Sep 19 2024
Journal Name
Turkish Computational And Theoretical Chemistry
In-silico design, molecular docking, molecular dynamic simulations, Molecular mechanics with generalised Born and surface area solvation study, and pharmacokinetic prediction of novel diclofenac as anti-inflammatory compounds
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The prostaglandins inside inflamed tissues are produced by cyclooxygenase-2 (COX-2), making it an important target for improving anti-inflammatory medications over a long period. Adverse effects have been related to the traditional usage of non-steroidal anti-inflammatory drugs (NSAIDs) for the treatment of inflammation, mainly centered around gastrointestinal (GI) complications. The current research involves the creation of a virtual library of innovative molecules showing similar drug properties via a structure-based drug design. A library that includes five novel derivatives of Diclofenac was designed. Subsequently, molecular docking through the Glide module and determining the binding free energy implementing the P

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Publication Date
Fri Dec 30 2016
Journal Name
Al-kindy College Medical Journal
Congenital Thrombasthenia In Children Welfare Teaching Hospital: A Descriptive Study
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Background: Thrombasthenia is an inherited genetic disorder affecting platelets, which is characterized by spontaneous muco-cutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. Objectives: The aim of this study was to assess the diagnosis and treatment of thrombasthenia in Children Welfare Teaching Hospital. Type of the study: A cross-sectional study. Methods: This descriptive study was performed on 66 patients with thrombasthenia from the first of October 2013 till the first of July 2015.The diagnosis of the disease was done by a wide spectrum of characteristics including family history, clinical manifestations, laboratory tests.. Results: The common manifestations of the disease at time of diagnosis wer

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Publication Date
Sat Feb 02 2019
Journal Name
Journal Of The College Of Education For Women
Linguistic Analysis as Mean of Soliciting Patients concerns
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Publication Date
Sun Aug 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
STATISTICAL ANALYSIS OF PATIENTS INFECTED WITHCORONAVIRUS USING MANOVA
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Statistics has an important role in studying the characteristics of diverse societies. By using statistical methods, the researcher can make appropriate decisions to reject or accept statistical hypotheses. In this paper, the statistical analysis of the data of variables related to patients infected with the Coronavirus was conducted through the method of multivariate analysis of variance (MANOVA) and the statement of the effect of these variables.

Publication Date
Fri Jan 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation of Osteocalcin and Some Biochemical Marker in Diabetes Mellitus Iraqi Women's patients with Osteoporosis
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Diabetes mellitus is a set of metabolic diseases, the most prevalent of which is chronic hyperglycemia. The culprits include insulin synthesis, insulin action, or both. Osteoporosis is a progressive systemic skeletal disorder defined by decreased bone mass and micro architectural degeneration of bone tissue, resulting in increased bone fragility and fracture risk, according to the World Health Organization (WHO). The degree of Nervosa damage determines how much a diabetic patient's body has been compromised. The current study's goal is an estimation: Age, BMI, FBS, HbA1C, D3, ALP, Ca, P, and Osteocalcin in Iraqi T2DM Women's patients with and without Osteoporosis. Three vitamins are required for Osteocalcin biosynthesis: vitamin K for Gla f

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Publication Date
Sun Mar 06 2016
Journal Name
Baghdad Science Journal
Association of Glutathione–S-Transferase (GSTP1) Genetic Polymorphism in Iraqi Patients with Diabetes Mellitus Type2
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Glutathione S-transferases (GSTs) are enzymes that included, in a more range of detoxifying reactions by conjugation of glutathione, to electrophilic material. Polymorphisms n the genes that responsible of GSTs affect, the function of the GSTs. GSTs play an active role in protection of cell against oxidative stress mechanism. Polymorphisms of GSTP1 at codon 105 amino acids forms GSTP1 important site for bind of hydrophobic electrophiles and the substitution of Ile/Val affect substrate specially catalytic activity of the enzyme and may correlate with reach to different diseases in human like diabetes mellitus type2 disease. Correlation between these polymorphisms and changes in the parameters file of diabetic patients has also bee

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Publication Date
Mon Nov 23 2015
Journal Name
Sultan Qaboos University Medical Journal
Association of Higher Defensin β-4 Genomic Copy Numbers with Behçet’s Disease in Iraqi Patients
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Publication Date
Sun Jul 30 2023
Journal Name
Al-rafidain Journal Of Medical Sciences
Correlation of Kidney Injury Molecule-1 and Nephrin Levels in Iraqi Patients with Diabetic Nephropathy
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Diabetic nephropathy is characterized by persistent microalbuminuria and metabolic changes that decline renal functions. Researchers have been prompted to explore new biomarkers such as KIM-1 and nephrin that may enhance the identification of disease. Objective: To Evaluate biomarker levels of kidney injury molculre-1 (KIM-1) concentration and nephrin as early and sensitive markers of nephropathy in type 2 diabetic patients. Method: One hundred T2DM patients were included in a cross-sectional study at the specialized center for endocrinology and diabetes, Baghdad. The first group includes 50 diabetic nephropathy (DN) patients, and the second group includes 50 T2DM patients without DN. Biochemical and clinical parameters were reported for pa

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Publication Date
Fri Sep 01 2023
Journal Name
Asian Pacific Journal Of Cancer Prevention
Development of a T-ARMS-PCR Assay for Detecting Genetic Polymorphism in the Catalase (rs7943316) Gene in the Iraqi Population with Breast Cancer
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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Totas serum sialic acid among enteric fever patients
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In this study serum total sailie acid concentration were tested as a scrological marker of discases activity to cvalute the result of the test in the diagonosis oe enteric fever(TSA) was measured in the serum od (50) patines with typhi fever(50)pa-tients

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