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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
Sun Dec 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Association of a genetic variant (rs689466) of Cyclooxygenase-2 gene with chronic periodontitis in a sample of Iraqi population
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Background: periodontitis is a chronic inflammatory disease causing destruction of the tooth supporting structures, initiated by dental plaque and modified by environmental and genetic risk factors. Cyclooxygenase-2 (COX-2) enzyme is responsible for the production of prostaglandin E2, an important mediator in the chronic periodontitis (CP) pathogenesis. Polymorphisms in COX-2 gene have linked to CP in different populations. Aim: To study the association between Cyclooxygenase-2 single nucleotide polymorphism rs689466 (-1195A/G SNP) and chronic periodontitis in a sample of Iraqi population. Methods: One hundred Iraqi subjects divided into two groups: case group consisted of 70 CP patient (35 males and 35 females) with age range 30-55 year

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Publication Date
Thu Dec 13 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Study of the Relationship between Some Microorganism Isolated from Congenital Anomalies Neonatal Screening and Their Mothers in Iraqi Patient
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Objectives : This study was seeks to determine the IgG and IgM in serum mothers and their babies of Iraqi patient suffering from congenital anomalies toward some microorganisms such as Cytomegalovirus (CMV), Congenital toxoplasmosis , Congenital rubella and Genital herpes simplex virus (HSV) correlated with age and babies gender the sample was collected from AL- Alwayia hospital for children / Baghdad . Methodology : Fifth blood sample have been collected from mothers and their babies suffering from congenital anomalies to detection IgG and IgM of some viruses including as Cytomegalovirus (CMV), congenital tox

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and AMH in Iraqi Patients with Chronic Kidney Disease
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This study was conducted to investigate thyroid function and Anti-Müllerian hormone (AMH) in (Chronic kidney disease) CKD patients by evaluating their levels in CKD patients, 50 patients were diagnosed to have CKD stage-5, their ages ranged between 20-50 years (25 males and 25 females) who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq, they were recruited from April 2018 to July 2018 and were enrolled into the study. The control group consisted of 20 healthy individuals, their ages ranged between 20-48 years (10 males and 10 females). The study showed non-significant (p>0.05) increase in AMH level in CKD patients compared to the control group. On the other hand, TSH was recorded a highly significant (

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
HLA Typing in Iraqi Patients with Obesity and Primary Osteoarthritis.
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Background: Osteoarthritis (OA) is a degenerative joint disease. It is one of the major causes of disability in developed and developing countries. Human leukocyte antigen (HLA) as part of immune system has a role in the disease process.Objectives: To investigate whether there is an association between HLA class II-DRB and OA.Methods: A case control study with 26 patients with osteoarthritis and 22 apparently healthy obese control persons matching in ethnicity were enrolled in this study during the period between October 2012 till March 2013. Direct interview was done with each patient and HLA typing was done by molecular method using Sequence Specific Primer (PCR-SSP) method using One Lambda Kit-USA. Results: The results showed that fem

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Publication Date
Sun Jun 20 2021
Journal Name
Baghdad Science Journal
Hypothyroidism and Leptin in Iraqi Patients with Chronic Kidney Disease
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The present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on  70 subjects, 50 patients with an age range between 20-50 years (25  males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10  males and 10 females), who attended  the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April  2018  to July  2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea

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Publication Date
Fri Feb 01 2019
Journal Name
Meta Gene
Cytokine gene variations and their impact on serum levels of IFN-γ, IL-2, IL-4, IL-10 and IL-12 among Iraqi Arabs
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Publication Date
Tue Feb 01 2022
Journal Name
Baghdad Science Journal
In Situ Hybridization for Molecular Detection of Human Papilloma Viral 6 / 11 DNA in Adenoctomized Tissues from A group of Iraqi Pediatric Patients
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Among more than 200 different human papilloma viral genotypes, the association of low oncogenic risk-HPV genotypes have been recognized with a variety of oral, oropharyngeal, nasopharyngeal benign tumors as well as non-neoplastic polyposis and papillomas and adenoid hypertrophy. This prospective case- control study aims to determine the rate of DNA detection of HPV genotype 6/11 in nasopharyngeal adeno- tonsillar tissues from a group of patients subjected to adenoctomy for adenoid hypertrophy . A total number of nasopharyngeal adeno-tonsillar tissue specimens from pediatric patients with adenoid hypertrophy were enrolled; 40 nasopharyngeal adeno-tonsillar tissues from patients with adenoid hypertrophy, and 20 normal nasal tissue specimen

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Publication Date
Fri Dec 30 2011
Journal Name
Al-kindy College Medical Journal
Sensorineural Deafness Among Patients with Chronic Renal Failure in Al-kindi Teaching Hospital
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Background: Patients with chronic kidney
disease have different grades of sensorineural
deafness .
Objective: To study the incidence of
sensorineural hearing loss and possible contributing
factors in patients with chronic kidney disease.
Methods: A total of 100 patients with chronic
kidney disease were studied. All of them were
males. 92 of them were on regular haemodialysis
programme. Only 8 patients were on conservative
management the age range of the study patients was
18-40 year patients were divided into three groups
according to age. All patients were assessed
clinically and were evaluated by audiometry , and
analysis was made on bone conduction threshold
.The mean follow up period was 2

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Publication Date
Fri Jul 05 2013
Journal Name
Hemoglobin
The Spectrum of β-Thalassemia Mutations in Baghdad, Central Iraq
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Publication Date
Thu Apr 30 2026
Journal Name
Iraqi Journal Of Science
The Polymorphism of OCRL Gene in Kidney Stones and Kidney Failure Patients
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Kidney disease is a kidney injury or disease that affects many people globally. The study aims to evaluate the effect of Phosphatidyl Inositol (4,5) Bisphosphate, 5-Phosphatase (PIP2) enzyme on calcium (Ca2+) levels and its relationship to oculocerebrorenal gene variations in kidney stone and kidney failure patients. The enzyme-produced amount was measured by enzyme-linked immunosorbent assay (ELISA). Genetic variations were studied through the polymerase chain reaction (PCR) technique, followed by the sequencing of fragments of the exons (9, 13, 15). Blood samples were collected from eighty patients (40 with kidney stones and 40 with kidney failure), and 40 were healthy individuals. Results showed a significant difference between t

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