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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
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 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
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
Wed Jan 01 2025
Journal Name
Medical Journal Of Babylon
Study Effect of Periostin Level in Obese Iraqi Females Patients with Type 2 Diabetes Mellitus
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Abstract<sec> <title>Background:

Obesity has been connected to a higher risk of acquiring a number of diseases, including cancer, type 2 diabetes mellitus (T2DM), hypertension, and cardiovascular disease. Periostin is a crucial regulator of the growth and maintenance of bones, teeth, and the heart.

Objectives:

The aim of the study was to estimate the level of (periostin, glycated hemoglobin [HbA1c], fasting serum [FBG], total cholesterol [TC], high-density lipoprotein [HDL], low-density lipoprotein [LDL], and triglycerides [TG]) in diabetic Ira

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Publication Date
Wed Jan 01 2025
Journal Name
Medical Journal Of Babylon
Study Effect of Periostin Level in Obese Iraqi Females Patients with Type 2 Diabetes Mellitus
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Abstract<sec> <title>Background:

Obesity has been connected to a higher risk of acquiring a number of diseases, including cancer, type 2 diabetes mellitus (T2DM), hypertension, and cardiovascular disease. Periostin is a crucial regulator of the growth and maintenance of bones, teeth, and the heart.

Objectives:

The aim of the study was to estimate the level of (periostin, glycated hemoglobin [HbA1c], fasting serum [FBG], total cholesterol [TC], high-density lipoprotein [HDL], low-density lipoprotein [LDL], and triglycerides [TG]) in diabetic Ira

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Publication Date
Sun Nov 30 2025
Journal Name
Annals Of Abbasi Shaheed Hospital And Karachi Medical &amp; Dental College
Exploring Coffee Consumption Patterns and their Relationship with Menstrual Symptoms among Iraqi Female Medical Students
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Objectives: This study aimed to assess patterns of coffee consumption among medical students at Al-Kindy College of Medicine, evaluate awareness of its benefits and adverse effects, and explore possible associations between caffeine intake and menstrual characteristics among female students.Methods: A descriptive cross-sectional study was conducted between November 2023 and February 2024 among 297 undergraduate medical students selected by convenience sampling. Data were collected through a validated, self-administered online questionnaire covering sociodemographic characteristics, coffee-drinking habits, perceived effects, and menstrual patterns. Descriptive and inferential analyses were performed using SPSS version 25. Association

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Publication Date
Sat Apr 30 2022
Journal Name
Pakistan Journal Of Medical And Health Sciences
Evaluation of Cytotoxic T-Lymphocyte Antigen 4 Polymorphism and Soluble Immune Checkpoint Level Among A Sample of Sars-Cov-2 Iraqi Patients
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Objective: To Evaluate the Roley of Cytotoxic T-Lymphocytek antigen 4 Polymorphism and soluble immune checkpoint level (PD-1,PDL-1 and CTLA-4 ) in SARS-Cov-2 patients. Methods: Fromt October 2020 to April 2021, the currentk study was conducted in Baghdad-Iraq. Ninety patients with Confirmatory SARS-Cov-2 by PCR were inclusion in the study, and they were seeking treatment at Medical City in Baghdad's Teaching Hospital (BTH). Patients with SARS-Cov-2 were divided into two groups: those with Sever SARS-Cov-2 symptom and those with mild - moderate SARS-Cov-2 symptoms (cross sectional study. Patients with another form of autoimmune illness, malignant, diabetes, under the age of 18 and pregnant women were excluded. Results: Data rega

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Publication Date
Thu Jun 15 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Oral Health Status, Salivary MMP-8& Secretory Leukocyte Peptidase Inhibitor (SLPI) Among Uncontrolled Type-I Diabetes Mellitus In Iraqi Patients
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Background: diabetes is a metabolic disease characterized by hyperglycemia that results in deficiency or absence of insulin production. The dental caries and gingivitis/periodontitis are widespread chronic diseases in diabetes. The aim of the present study was determined the salivary matrix metalloproteinase (MMP-8), Secretory Leukocyte Peptidase Inhibitor (SLPI) and oral health status among uncontrolled diabetic group in comparison with healthy control group. Materials and Methods: The total sample composed of 90 adults aged (18-35) years. Divided into 60 uncontrolled diabetic patients (HbA1c >7%) and 30 healthy control group. Unstimulated saliva was collected from each subject with type-I DM, BMI, duration of diabetes, HbA1c%, DMFT, gingi

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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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