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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 Jun 01 2022
Journal Name
Jordan Journal Of Biological Sciences
Comparison of the Folate and Homocysteine Levels with A80G -RFC1 Gene Polymorphism between the Sample of Iraqi Children with and without Down Syndrome
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Many international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.

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Publication Date
Tue Sep 01 2020
Journal Name
Meta Gene
Genetic polymorphisms frequency of vitamin D receptor gene rs7975232 and rs731236 in Iraqi thalassemic patients and healthy controls compared to Arabian healthy populations
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Publication Date
Fri May 05 2023
Journal Name
Journal Of Population Therapeutics And Clinical Pharmacology
The Association Between -697C>G and -997G>A polymorphism of the HTR2C Gene and the Metabolic Syndrome in Iraqi Schizophrenic Patients
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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Serum Protein Profile Of Iraqi Hydatidosis Patients with Different Sites of Infection
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Blood samples of One hundred and twenty patients from different hospitals in Baghdad infected with hydatidosis in different sites of the body (Liver, Lung, multiorgans and kidney) were collected for this study. On the other hand, 30 healthy individuals were included as a control group. This study was conducted to evaluate the effect of this disease on the serum protein profile of the patients using electrophoresis. The results revealed four different protein banding patterns with difference in number of bands and their molecular weights in comparison to the control group, and these differences depended on the site of infection. However the data showed a presence of the same band in all patients with different site of infection.

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Publication Date
Tue Jun 01 2021
Journal Name
Ibn Al- Haitham Journal For Pure And Applied Sciences
Gene Expression of NLRP3 Inflammasome in Celiac Disease of Iraqi Children
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Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Furthe

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Publication Date
Tue Jun 01 2021
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Gene Expression of NLRP3 Inflammasome in Celiac Disease of Iraqi Children
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Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Fu

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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
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
Wed Nov 07 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Study of some risk factors and C - reactive protein levels among patients with cardiovascular diseases
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Objective : To study the effect of some risk factors like age, smoking and Diabetes mellitus (DM) among patients with
certain cardiovascular diseases (Angina pectoris and Myocardial infarction), in addition to the assessment of the Creactive
protein (CRP) in the sera of those patients.
Methodology: The study was carried out on (100) subjects who were hospitalized in the Iraqi Center of heart Diseases
in Baghdad city and were suffering from Myocardial InfarcƟon (MI) (16) and Angina Pectoris (AP) (79) or from both (5)
over a period from September 2009 to June 2010. The results of paƟents were compared with those of (30) healthy
and age-matched individuals as a control group. Data were obtained from patients who were alr

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Publication Date
Thu Jun 30 2011
Journal Name
Al-kindy College Medical Journal
Prevalence of clinically significant Hepatopulmonary Syndrome among Patients with Chronic Liver Disease and Portal Hypertension
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Background : The hepatopulmonary syndrome (HPS) is defined as the triad of liver disease, arterial deoxygenation, and pulmonary vascular dilatation. The reported prevalence of HPS in cirrhotic patients varies between 5% -17.5%.Objective : To estimate the prevalence of hepatopulmonary syndrome among patients with chronic liver disease and portal hypertension and to study the correlation between HPS and the severity of liver disease.Patients and methods : Thirty patients were studied for the presence of HPS using transthoracic contrast echocardiography for detection of pulmonary vasodilatation. Arterial oxygen saturation (SaO2) was determined in erect and supine position using a pulse oximeter , (SaO2 ≤ 92 % in supine position and/or a d

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