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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
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Role of Certain Pro-Inflammatory Cytokines in Pathogenicity of Cardiomyopathy in Sample of Iraqi Patients
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Background: Cardiomyopathy (CM) is a cardiac muscle disorder that can lead to heart failure (HF). It has several phenotypes, including dilated, hypertrophic, and restricted. Pro-inflammatory cytokines play a crucial part in the development and advancement of CM. Objective: This study aimed to measure the concentration of certain cytokines [Interleukin- 1β (IL-1β), Interleukin-6 (IL-6), and Tumor Necrosis Factor (TNF-α)] in the serum of Iraqi patients with CM. Materials and Methods: Sixty CM patients and 30 healthy individuals with age ranged from 40 to 70 years old were enrolled in this study through their presence at Iraqi Center for Heart Diseases, Ghazy Al-Hariri Hospital for Surgical Specialties in the Medical City in Baghdad. The st

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Publication Date
Thu Mar 10 2022
Journal Name
American Journal Of Economics And Business Management
Analysis and measurement of the financial sustainability of the Iraqi economy for the period 1990-2018
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The research aims to measure the sustainability of the Iraqi economy for the period 1990-2018 as well as to show the impact of fluctuations in the level of GDP on financial sustainability, where financial sustainability is the necessary and sufficient condition for achieving economic and financial balance in the country, as financial sustainability reflects the movement of the state budget and its relationship to GDP through the indicators of deficit, fiscal surplus and public debt internal and external, as well as reflecting the art of managing public debt, and the more managed public debt is achieved, the more the management of public debt is achieved financial sustainability. for the state in the sense that there is a reciprocal

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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
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
Sat Jan 18 2025
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
Fri Sep 15 2023
Journal Name
History Of Medicine
The multifaceted role of Dectin-1 and Card9 in inflammatory bowel disease Iraqi patients
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The study aimed to investigate the role of Dectin-1 and Card-9 in pathogenicity of inflammatory bowel disease (IBD). This investigations involved 150 blood samples for IBD patients which divided in to two groups (50 for crohns disease CD (G2) and 50 for ulcerative colitis UC (G3)). All a apparently (male and female) attended to) Al-Kindy hospital) in Baghdad city, department of Gastroenterology. and all of thin were diagnosis by consulters medical staff and pathologists with age range 15-65years average 40 years. in addition to 50 blood samples were collected from apparently healthy individuals as control group (G1). 10 ml were withdrawn from all participants, 5ml for the immunological study which carried by ELISA technique and 5 ml used fo

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Publication Date
Thu Jan 01 2026
Journal Name
Open Journal Of Medicinal Chemistry
Relationship between chronic hepatitis B virus and pathogenecitity of Celiac disease in Iraqi patients
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the association between celiac disease and viral infection

Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Prevalence and Characterization of Some Colibactin Genes in Clinical Enterobacteriaceae isolates from Iraqi Patients
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The members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cyt

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Publication Date
Mon Dec 01 2014
Journal Name
Al Mustansiriyah Journal Of Pharmaceutical Sciences
Evaluation of the Predisposing Factors for Recurrent Respiratory Tract Infections in Iraqi Pediatric Patients.
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Recurrent respiratory tract infections are responsible for about 85% of all diseases in childhood, and are associated with significant morbidity and mortality. The aim of this study is to evaluate the main causes underlying recurrent respiratory tract infections in 176 pediatric patients aged 2 month to 4 year and weight from 4 to11 kg referred to the child center hospital and Al-sader hospital prospective study.All parents were given information sheet which then analyzed and the percentage of incidence of causes were recorded, we found that higher % related to many causes; mostly related to the parent like poor family education, mother carelessness, incomplete vaccination, other related to empirical diagnosis, and short course of t

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Prevalence and Characterization of Some Colibactin Genes in Clinical Enterobacteriaceae isolates from Iraqi Patients
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The members of the family of Eentrobacteriaceae harbour a gene cluster called polyketide synthase (pks) island. This cluster is responsible for the synthesis of the genotoxin colibactin that might have an important role in the induction of double-strand DNA breaks, leading to promote human colorectal cancer (CRC). Eleven out of the eighty eight isolates (12.5%) were pks+, distributed as 7 (8%) isolates of E. coli, 2 (2.25%) of K. pneumoniae and 2 (2.25%) of E. aerogenes. The cytotoxic effects of selected pks+ isolates (E. coli and E. aerogenes) on HeLa cells were represented by decreasing cell numbers and enlarged cell nuclei in comparison to the untreated cells. Cytological changes were observed when the infected HeLa cells culture

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Crossref (2)
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