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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 Aug 30 2023
Journal Name
Baghdad Science Journal
Biochemical Action of Vaccines in Iraqi Patients with COVID-19 Infection
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      The aim of the present study is to compare the biochemical action of the three vaccines taken in Iraq: Pfizer Biontech, AstraZeneca Oxford and Sinopharm based on biochemical parameters. Seventy COVID-19 Iraqi patients ( males and females ) were participated in the present study and classified into 7 groups : Gc :  COVID-19 patients ( without vaccine ) , Gp1: COVID-19 patients took one dose of Pfizer Biontech, Gp2 : COVID-19 patients took two doses of Pfizer Biontech, Ga1 : patients took one dose of AstraZeneca Oxford vaccine , Ga2: patients took two doses of AstraZeneca Oxford vaccine , Gs1 : patients took one dose of Sinopharm vaccine and Gs2:

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Publication Date
Tue Aug 30 2022
Journal Name
Research Journal Of Pharmacy And Technology
Status of HBeAg in association with other baseline tests in Iraqi patients with CHB
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Chronic Hepatitis B(CHB) is a serious sequel after Hepatitis B Virus infection, although the rate of chronicity is inverse with age but it may be associated with a significant proportion of deaths related to cirrhosis and liver cancer. HBV serology and measurement of hepatocytic enzymes with viral load can predict disease prognosis and response to treatment. HBeAg refers to a high viral replication and associated with more infectivity to others. This study aimed to determine the impact of HBeAg status in chronically infected patients on various baseline tests. A total of 90 patients with CHB infection who were included in this study. Several standardized measures used for liver function tests, viral load and hepatitis B serological

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Publication Date
Sun Jan 01 2023
Journal Name
Springer Nature
Clinical and Surgical Aspects of Congenital Heart Diseases
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This text and guide discusses the surgical and medical management of congenital heart diseases in both adult and children. It describes the disease, pathology, treatment, complications and follow-up with extensive use of didactic material to educate the reader to the practicalities of the subject. It details the novel research via an extensive literature review, while covering all aspects of the surgical and medical treatment of congenital heart disease. It includes review of the laparoscopic techniques and epidemiology of each disease involved and their prevalence to provide the reader with the full clinical picture. Clinical and Surgical Aspects of Congenital Heart Diseases: Text and Study Guide provides a thorough practical reference fo

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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
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
Tue Dec 01 2020
Journal Name
Baghdad Science Journal
Association between Allelic Variations of -174G/C Polymorphism of Interleukin-6 Gene and Chronic Kidney Disease-Mineral and Bone Disorder in Iraqi Patients
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This study designed to examine association between-174G/C polymorphism of interleukin-6 gene and phosphate, calcium, vitamin D3, and parathyroid hormone levels in Iraqi patient with chronic kidney disease on maintenance hemodialysis. Seventy chronic renal failure patients (patients group) and 20 healthy subjects (control group) were genotyped for interleukin-6 polymorphism and genotyping was performed by conventional polymerase chain reaction-restriction fragment length polymorphism. No significant differences in phosphate levels were observed in patients and control with different interleukin-6 genotypes. Control had non-significant differences in calcium levels, while patients with GG and CG genotypes displayed significant e

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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
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 Jan 01 2021
Journal Name
Bulgarian Journal Of Veterinary Medicine
First isolation and molecular phylogenetic analysis of Coxiella burnetii in lactating cows
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Q fever is an infectious disease of animals and humans, caused by globally distributed C. burnetii. In Iraq, there are no previous studies associated with the detection of the organism in cattle. An overall of 130 lactating cows were submitted to direct collection of milk samples. Initially, the samples of milk were tested using the molecular polymerase chain reaction (PCR) assay targeting three genes (16S rRNA, IS1111a transposase, and htpB). However, positive results (18.46%; 24/130) were detected only with the 16s rRNA gene. Concerning risk factors, the highest prevalence of C. burnetii was showed in the district of Badra (42.86%), whereas the lowest - in Al-Numaniyah and Al-Suwaira districts (P=0.025). There was no significant v

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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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