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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
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
Tue Jun 01 2021
Journal Name
Annals Of The Romanian Society For Cell Biology
Comparative Study of Serum Angiopoietin like Protein-8 and Hyaluronic Acid in Iraqi Hemodialysis Patients with and without T2DM
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The current work was designed to investigate serum angiopoietin like protein-8 and hyaluronic acid among Iraqi hemodialysis patients with and without type 2 diabetes mellitus, and to find relationship between them, as well as if these patients are at risk of kidney fibrosis. Subjects & Methods: in this study, serum samples were obtained from (60) Iraqis patients with end stage renal diseases (ESRD)on hemodialysis (HD) (30 patients with T2DM (G2) and 30 patients withoutT2DM (G3)) in addition to (30) healthy individuals as a control group (G1), their ages ranged from (35-65) years. The patients attended the Al-Yarmouk Teaching Hospital, Baghdad. Results: the results in this study showed a highly a significant elevation inserum angiopoietin li

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Publication Date
Wed Dec 31 2025
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Determination of Matrix Metalloproteinase 10 and Fetuin-A Levels as Excellent Predictive Factors in Iraqi Patients with Diabetic Nephropathy
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Background: Diabetic nephropathy (DN) is a significant contributor to end-stage renal failure in individuals with type 2 diabetes mellitus (T2DM). Diabetic nephropathy is characterized by tubular atrophy, glomerular dilation, glomerulosclerosis, interstitial fibrosis, and proteinuria, resulting in deterioration of kidney function. DN, primarily caused by hyperglycemia, accounts for millions of deaths globally and is the leading cause of end-stage renal disease. Matrix metalloproteinase 10 is an enzyme essential for the breakdown of extracellular matrix constituents. Fetuin-A forms soluble complexes with calcium and phosphate to prevent soft tissue mineralization Objectives: To determine the levels of Matrix Metalloproteinase 10 and

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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation the Risk Factors that are Associated with Osteoporosis in Post Kidney Transplantation in a Sample of Iraqi Patients
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Renal transplantation is a principal treatment option for end-stage kidney failure. Bone loss and fracture are serious complication of kidney transplantation, associated with morbidity and mortality. The pathogenesis of post transplantation bone loss is multifactorial and complex

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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
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
Fri Apr 04 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Role of Kisspeptin-1 and Growth Differentiation Factor-15 in Iraqi Patients with Metastatic and Non-metastatic Colorectal Cancer
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Abstract Background: Colorectal cancer (CRC) is a leading cause of cancer mortality worldwide. Identifying novel biomarkers is critical for improving diagnosis, prognosis, and treatment strategies. This study investigates the serum levels of kisspeptin-1 (KISS1), its receptor (KISS1R), growth differentiation factor 15 (GDF15), and carcinoembryonic antigen (CEA) in Iraqi CRC patients. Objectives: Explore associations between serum levels of Kiss1, Kiss1R, GDF, and CEA and disease progression in Iraqi patients with CRC. Methods: A case-control study was conducted, including 72 CRC patients and 36 healthy controls. Patients were stratified into non-metastatic and metastatic groups. Serum biomarker levels were measured using enzyme-link

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Publication Date
Sun Jul 30 2023
Journal Name
Iraqi Journal Of Science
Screening of periodontal disease related Bacteria in Iraqi patients and their relationship with salivary TLR2 and IL-6 level
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     The oral cavity has the second major and most diverse microflora after the gut. Since it is the starting point of digestion; the oral microbiota is essential for maintaining oral and systemic health.  Thus, this study aimed to find the bacterial isolates which act as a causative agent of periodontal diseases in Iraqi patients and their relation with some immune oral parameters. Saliva specimens and oral swabs of 91 patients (51) and control individuals (40) were collected in this study. The specimens of patients were collected from Al-Amirya and Almaamon Specialized Dental Centers in Baghdad for a period from November/2021 to February/2022. The microbiological results revealed, that the most prevalent bacterial isolates we

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Publication Date
Fri Feb 07 2020
Journal Name
Plant Archives
Seroprevalence of Human Cytomegalovirus in Iraqi Breast Cancer Patients
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The current study was conducted in the period extending from November 2018 to October 2019 and designed as a case-control study and aimed to assess the seroprevalence of HCMV. However, a total number of 91serum specimens were collected to fulfill this purpose from females (71 breast cancer patients, and control group of 20 females) attending Al-Amal hospital for cancer management and Baghdad teaching hospital and the practical part was performed in College of Science, University of Baghdad. The study protocol was approved by the Ethics Committee at the Department of Biology (Reference: BEC/0220/0011). The immunological part for evaluation of seroprevalence of HCMV was accomplished by ELISA technique which revealed that anti-HCMV IgG was sco

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Publication Date
Thu Dec 09 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Seroprevalence of Toxoplasma Gondii in Parkinson’s Disease Iraqi Patients
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Background Several studies have addressed the prevalence of Toxoplasma gondii (T. gondii), among Parkinson’s disease (PD) patients in different countries, and the potential association between the infection and PD; the results of these studies were conflicting. The study aims to investigate the prevalence of Toxoplasma infection among sample of Iraqi PD patients. Also, to examine the potential association of age, PD duration, gender, smoking habit, zone of residence and family history of PD, with the prevalence of Toxoplasma infection in PD patients.

Patients and Methods Seventy-four PD patients attaining Dr. Saad Al-Witry Neuroscience Hospital in Baghdad/ Ir

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