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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 Jul 19 2024
Journal Name
Baghdad Science Journal
Topological Indices and QSPR/QSAR Analysis of Some Drugs Being Investigated for the Treatment of Alzheimer's Disease Patients
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  يعد تحليل العلاقات الكمية بين البنية والممتلكات/النشاط (QSPR/QSAR) أمرًا بالغ الأهمية لفهم خصائص المركبات المرتبطة بالمخدرات، خاصة في علاج مرض الزهايمر. في هذه الدراسة، هدفنا هو استخدام أساليب مبتكرة بما في ذلك استخدام المؤشرات الطوبولوجية -درجة و-  درجة ، المستمدة من نظرية الرسم البياني، لتقييم الخصائص والخصائص الفيزيائية والكيميائية لخمسة أدوية لمرض الزهايمر: تاكرين، دونيبيزيل، ريفيستيجمين، جالانتامي

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Publication Date
Fri Mar 01 2024
Journal Name
Baghdad Science Journal
Comparative Study of Genomic DNA Extraction Protocols from Whole Blood for P53 Gene Polymorphism in Persons with and without Prostate Cancer
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In latest decades, genetic methods have developed into a potent tool in a number of life-attaching applications. In research looking at demographic genetic diversity, QTL detection, marker-assisted selection, and food traceability, DNA-based technologies like PCR are being employed more and more. These approaches call for extraction procedures that provide efficient nucleic acid extraction and the elimination of PCR inhibitors. The first and most important stage in molecular biology is the extraction of DNA from cells. For a molecular scientist, the high quality and integrity of the isolated DNA as well as the extraction method's ease of use and affordability are crucial factors. The present study was designed to establish a simple, fast

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Salivary Protein Carbonyl Level in Relation to Gingival Health Status among a Group of Iraqi Pregnant Women
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Publication Date
Wed Oct 07 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of the examination stress on periodontal health status and salivary IL-1? among Iraqi dental students
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Background: Periodontal diseases (PD) are common chronic inflammatory diseases caused by pathogenic microorganisms colonizing the gingival area and inducing local and systemic elevations of pro-inflammatory cytokines resulting in tissue destruction by a destructive inflammatory process. Stress was considered as one of the important risk factors that cause many inflammatory diseases including PD. The purpose of this study wasto determines and compares clinical periodontal parameters (PLI, GI and BOP), stress level and salivary IL-1? level among dental students before, during and after mid-year exam, also to find the correlation among stress, IL-1? and clinical periodontal parameters. Materials and methods: The sample was consisted of 24 dent

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Publication Date
Sat Jun 19 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children
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Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator

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Publication Date
Mon Mar 02 2026
Journal Name
Retos
A multi-behavioral assessment of physical activity, sedentary behavior, sleep, and weight status among iraqi undergraduate students
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Background: University students in Iraq face rising obesity risk linked to physical inactivity, prolonged sedentary behavior, insufficient sleep, and academic stress. Longitudinal evidence examining the combined influence of these behaviors on weight status in Iraqi universities remains limited. Objective: This study examined six-month longitudinal associations of physical activity, sedentary behavior, sleep duration, and perceived stress with body mass index and percentage body fat among Iraqi university students. Methods: A prospective multi-behavioral study was conducted at six public universities in Iraq. Six hundred undergraduate students aged 18–25 years were followed monthly during one academic semester. Validated questionn

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Publication Date
Mon Jul 18 2022
Journal Name
Journal Of Genetic And Environmental Resources Conservation
Estimation of immunological markers (IL1Alpha, IL-6 and CRP) in colorectal cancer in Iraqi patients
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Cytokines are A type of protein that is made by certain immune and non-immune cells and has an effect on the immune system. Some cytokines stimulate the immune system and others slow it down. Interleukins (ILs) can be divided into several families with more than 40 subfamily members. They can interact with a variety of cells that alter the immune system and act on a wide range of cancers. In the past several years, ILs have attracted substantial attention because of their distinct roles in CRC that provide a new and promising strategy for CRC. In general, ILs facilitate CRC by promoting tumorigenesis, tumour growth, angiogenesis, and cancer cell invasion and metastasis and inhibit CRC via complex pathways. The Bioassay Technology Human Inte

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Publication Date
Thu Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
Serum ferritin level and B12 in a sample of Iraqi re-current aphthous stomatitis patients
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Background: Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosal disorders with a prevalence of 50-66%. The prevalence of hematinic deficiencies including ferritin and vitamin B12 deficiencies and their role in the prophylaxis and development of RAS is not well known. Many studies have demonstrated a high prevalence of hematinic deficiencies in patients with RAS. This study aimed to compare the serum level of ferritin and vitamin B12 in patients with recurrent aphthous ulcers and healthy controls. Subjects, Materials and Methods: The data were collected from patients who needed blood analysis to exclude anemia from November 2020 to May 2021. The study was approved by the institutional ethics committee. After recordi

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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)
Estimation of Beta Two Microglobulins, Fetuin-A, Resistin Serum Level in Iraqi Multiple Myeloma Patients
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Multiple myeloma is hematological disease produces many complications in the bone, kidney, neural and other complications. The study aims to measure serum biomolecules like fetuin-A and resistin and determined the possibility to use these biomarkers as disease predictor. blood samples were isolated from 58 patients and 24 sex and age-matched control, serum then isolated, and proper ELISA kit then used to a determined level of B2 microglobulin, resistin, and fetuin-A. The result demonstrated significant increase in   B2 microglobulin, fetuin-A and resistin in patients compare to control (1.3470.714 vs. 0.9130.253), p = 0.000, (14.00310.352 vs. 9.2594.264), p= 0.005, (1.9673.595 vs. 0.6040.622), p = 0.009, respectively. &

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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)
Estimation of Beta Two Microglobulins, Fetuin-A, Resistin Serum Level in Iraqi Multiple Myeloma Patients
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Multiple myeloma is hematological disease produces many complications in the bone, kidney, neural and other complications. The study aims to measure serum biomolecules like fetuin-A and resistin and determined the possibility to use these biomarkers as disease predictor. blood samples were isolated from 58 patients and 24 sex and age-matched control, serum then isolated, and proper ELISA kit then used to a determined level of B2 microglobulin, resistin, and fetuin-A. The result demonstrated significant increase in   B2 microglobulin, fetuin-A and resistin in patients compare to control (1.3470.714 vs. 0.9130.253), p = 0.000, (14.00310.352 vs. 9.2594.264), p= 0.005, (1.9673.595 vs. 0.6040.622), p = 0.009, respectively.   These di

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