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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 Jun 07 2025
Journal Name
Al–bahith Al–a'alami
THE MENTAL PICTURE OF THE HOUSE OF REPRESENTATIVES AMONG THE IRAQI PUBLIC : (SectionII)
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This research is considered as the beginning of other studies about the iraqi the public and their relationship with the various state institutions. Recently, such studies used to be almost non-existent. The main characteristic that distinguishes the scientific studies, is the fact that it involves a specific problem that needs to be studied and analysed from multiple aspects, otherwise the definition of problem identification wouldn’t have been narrowing the topic into what the researcher wants to address, also not what the title is referring to as topics which the researcher doesn’t want to address. The problem in this research resides in the lack of well planned scientific programs that aims at building a positive mental picture a

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Effect of Radioactive Iodine Therapy on Interleukin-2 (IL-2), IL-17 and Physiological Parameters in Iraqi Patients with Graves’ Disease
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Publication Date
Sun Jul 07 2019
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Chromogenic in Situ Hybridization Technique versus Immunohistochemistry in Assessment of HER2/neu Status in 448 Iraqi Patients with Invasive Breast Carcinoma
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BACKGROUND: The rapidly growing knowledge regarding factors controlling tumour growth, with the new modalities of therapy acting on the biological activity of the tumours draw the attention of most cancer researches nowadays and represent a major focus for clinical oncology practice. For the detection of HER2/neu protein overexpression and gene amplification, immunohistochemistry (IHC) and in-situ hybridisation (ISH) is the recommended techniques, respectively, with high concordance between the two techniques. The current United Kingdom recommendations for HER2/neu testing are either for a two-tier system using IHC with reflex ISH testing in equivocal positive cases, or a one-tier ISH strategy. AIM: To compare the results of HER2/neu gene s

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Publication Date
Wed Sep 02 2020
Journal Name
International Journal Of Pharmaceutical Research
A Study of Anti-Fungal Activity for Some Antibiotics Against Aspergillus spp. and Candida spp. in Iraqi patients with Diabetes Mellitus
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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
INVESTIGATION OFsHLA-GAND IT’S RECEPTOR (LILRB4) IN IRAQI PATIENTS INFECTED WITH L. INFANTUMAND THEIR EFFECTS ON THE LEVEL OF IL-12
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Visceral leishmaniasis(VL) or kala-azar is one of the world most neglected tropical diseases in mortality and fourth in morbidity, rK39 dipstick was used to diagnose the suspected infected patients as easiest and rapid technique for VL diagnostic, the disease out-coming required to the differentiation of cell mediated immunity either T-helper 1(Th-1) or (Th-2). One of main pointers that may be considered as one of immune evasion strategy in the host-parasite interplay is HLA-G level alteration. HLA-G Known as a special proteins (non-classical HLA class I) molecules which can suppress the immune system by T-cell functions impaired in the aid with target receptors as LILRB4. The development of the cell mediated immunity initiated with Interle

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Level and Statistical Distribution of Thyroid Peroxidase and Thyroid Hormones in Iraqi patients with Type1 Diabetes Mellitus at Al-Karkh Side
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Type 1 diabetes mellitus (T1DM) is an autoimmune disease frequently associated with autoimmune thyroid disease (AITD). The study is conducted at the Specialized Center for Endocrinology and Diabetes-Baghdad at Al-karkh side, during December 2013 up to April 2014. In this study, we investigate the prevalence of anti-thyroid peroxidase (anti-TPO) antibody in(80) type1 diabetic patients with (AITD) and (30) healthy controls .Blood samples are taken for investigation of thyroid tests by using Vitek Immunodiagnstic Assay System (VIDAS).Enzeme Linked Immunosorbent Assay (ELISA) is used to detect anti-thyroid antibody(anti-TPO). The results show that age, gender and BMI (body mass index) are similar in both groups, p>0.05. Among 80 type1 diabetic

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Publication Date
Mon Apr 01 2019
Journal Name
Journal Of Educational And Psychological Researches
The sense of coherence among individuals with physical disabilities
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            The aim of the current research is to measure the sense of coherence among individuals with physical disabilities. The researcher adopted a scale of (29) paragraphs spread over three domains designed by Antonovski (1993) to measure the sense of coherence. A sample of (210) disabled individuals was chosen randomly to collect the required data. The data were analyzed using the statistical package for social sciences (SPSS). The result showed a lack of sense of coherence among the sample.

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Publication Date
Thu Sep 26 2019
Journal Name
Al-kindy College Medical Journal
Clinical Significance of Blastocystis Sp. among Children with Leukemia
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Background: Blastocystis spp. distributes world widely and the genus Blastocystis include many subtypes that are isolated from human intestinal tract. It is considered the most common parasite detected in human being.

Objectives: To evaluate the incidence of Blastocystis spp. among leukemic children, to find out its association with the presence of symptoms (diarrhea and abdominal pain), and to assess the efficacy of different staining methods in detection of Blastocystis spp. 

Type of the study: cross-sectional study.

Method: 103 children were enrolled in this study, 53 leukemic patients and 50 healthy con

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Publication Date
Tue Jun 23 2020
Journal Name
Molecular Biology Reports
The correlation of combined OGG1, CYP1A1 and GSTP1 gene variants and risk of lung cancer of male Iraqi waterpipe tobacco smokers
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Genetic polymorphisms of genes whose products are responsible for activities, such as xenobiotic metabolism, mutagen detoxification and DNA-repair, have been predicted to be associated with the risk of developing lung cancer (LC). The association of LC with tobacco smoking has been extensively investigated, but no studies have focused on the Arab ethnic- ity. Previously, we examined the association between genetic polymorphisms among Phase I and Phase II metabolism genes and the risk of LC. Here, we extend the data by examining the correlation of OGG1 Ser326Cys combined with CYP1A1 (Ile462Val and MspI) and GSTP1 (Ile105Val and Ala103Val) polymorphisms with the risk of LC. Polymerase chain reaction- restriction fragment length polymorphism (

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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Hydatid Cyst Disease among Patients hospitalized at Baghdad teaching hospital: clinico-epidemiological study
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Background. Echinococcosis/ hydatitdosis is a zoonotic parasitic disease caused by the infestation of the larval form of the tapeworm of the genus Echinococcus .The Liver, lungs, and kidneys are the common areas of infestation.Objectives: To describe hydatid disease in hospitalized patients from a clinico-epidemiological perspectives.Methods:: A retrospective study was conducted over a period of 6 months extending from 15th of November 2011 to the 15th of May 2012 by reviewing records of 125 patients who were hospitalized at Baghdad Teaching Hospital during 2011and received medical and surgical treatment for hydatid cyst disease. The information covered the socio-demographic and clinical characteristics of the patientsResults:.The presen

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