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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 Sep 27 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Genetic Polymorphism in TNF-α Promoter Region: Its Association with Severity and Susceptibility to Rheumatoid Arthritis in Iraqi Patients with Active Disease
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Objectives: To study the prevalence of rs1799964 (-1031 T/C) and rs361525 (- 238 G/A) SNPs and their effect on the disease activity, severity, and cytokines production in newly diagnosed Iraqi rheumatoid arthritis patients. Patients and Methods: sixty-three patients were diagnosed by a specialist physician while attending the rheumatology unit and twenty control participated. The inflammatory markers were measured and PCR amplification and sequencing were performed to demonstrate TNF-α SNPs. Results: Regarding (-1031 C/T) SNP, the TT genotype and allele C were significantly present in the controls, and the CT genotype was distributed significantly in the patients. The TT genotype was mostly distributed in the mild-moder

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Publication Date
Mon Apr 01 2024
Journal Name
Iraqi Postgraduate Medical Journal
Estimation of Prevalence rate of Sjogren’s syndrome among Rheumatology clinic patients in Iraq
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Publication Date
Mon Sep 29 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Photogrammetric analysis of facial soft tissue profile of Iraqi adults sample with Class I normal occlusion: (A cross sectional study)
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Background: The purposes of this study were to determine the photogrammetric soft tissue facial profile measurements for Iraqi adults sample with class I normal occlusion using Standardized photographic techniques and to verify the existence of possible gender differences. Materials and methods: Eighty Iraqi adult subjects (40 males and 40 females) with an age ranged between 18-25 years having class I normal occlusion were chosen for this study. Each individual was subjected to clinical examination and digital standardized right side photographic records were taken in the natural head position which is mirror position which the patient looking straight into his eyes into the mirror mounted on the stand. The photographs were analyzed using A

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Publication Date
Thu Dec 09 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Seroprevalence of Toxoplasma Gondii in Parkinson’s Disease Iraqi Patients
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Background Several studies have addressed the prevalence of Toxoplasma gondii (T. gondii), among Parkinson’s disease (PD) patients in different countries, and the potential association between the infection and PD; the results of these studies were conflicting. The study aims to investigate the prevalence of Toxoplasma infection among sample of Iraqi PD patients. Also, to examine the potential association of age, PD duration, gender, smoking habit, zone of residence and family history of PD, with the prevalence of Toxoplasma infection in PD patients.

Patients and Methods Seventy-four PD patients attaining Dr. Saad Al-Witry Neuroscience Hospital in Baghdad/ Ir

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Publication Date
Fri Feb 07 2020
Journal Name
Plant Archives
Seroprevalence of Human Cytomegalovirus in Iraqi Breast Cancer Patients
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The current study was conducted in the period extending from November 2018 to October 2019 and designed as a case-control study and aimed to assess the seroprevalence of HCMV. However, a total number of 91serum specimens were collected to fulfill this purpose from females (71 breast cancer patients, and control group of 20 females) attending Al-Amal hospital for cancer management and Baghdad teaching hospital and the practical part was performed in College of Science, University of Baghdad. The study protocol was approved by the Ethics Committee at the Department of Biology (Reference: BEC/0220/0011). The immunological part for evaluation of seroprevalence of HCMV was accomplished by ELISA technique which revealed that anti-HCMV IgG was sco

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Publication Date
Tue Sep 01 2015
Journal Name
Iosr Journal Of Dental And Medical Sciences (iosr-jdms)
Diabetic Cheiroarthropathy in a Sample of Iraqi Diabetic Patients
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Background: Diabetic cheiroarthropathy is a term derived from the Greek word “cheiros” meaning “of the hand”, It is characterized by stiff hands with distinctively thick, tight, and waxy skin, especially on the dorsal aspects of the hands. It is part of long term complication of diabetes and many suggest it is associated with microvascular complication. The aim of the study was to determine the prevalence of diabetic cheiroarthropathy in Iraqi patients with diabetes, and to study its association with diabetic retinopathy and glycemic control. Material and Methods: A cross-sectional study in which 110 diabetic patients and 110 non-diabetic healthy people who accepted to take part in the study were ran

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Oral Tumors; Clinicopathological Study among Patients Attending ENT Clinic in Baghdad
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Background: Oral tumors are one of the most challenging
tumors regarding their good prognosis in early diagnosis and
very difficult control in advancing stages.
Objectives: To study the prevalence, types and clinical
presentation of oral tumors in comparison to other oral
lesions among patients attending ENT clinic.
Al-Kindy Col Med J 2008 Vol.5(1) Original Article 11
Methods: This study included 534 patients with different
oral complains attending ENT clinics in AI-Yarmouk
Teaching Hospital, and AI-Kindy Teaching Hospital -
Baghdad, in the period from 1st jan1999 till 31th des 2006 (8
years interval).
Results: The results of this study showed that the prevalence
of malignant lesions was 13.5% (72 o

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Sexual Dysfunctions among Male Schizophrenic Patients Attending Al- Rashad Sex Clinic
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Background: Sexual dysfunction in patients with schizophrenia was reported as one of the most distressing antipsychotics drug adverse effects and it is directly related to treatment compliance, but the subject seldom touched in the field of psychiatry in Iraq previously.Objectives: To assess and find out the impact of schizophrenia on Sexuality of the patient, and illustrate effect of anti-schizophrenic on sexual activityMethods: using DSM4-TR and ASEX scale questionnaires for 104 male participants from out 155schizophrenic patient were studied in sex clinic in Al-Rashad teaching hospital for psychiatric disease in Baghdad. The study extended for 22 months from 1st of July 2010 to the 1st of April 2012, t test and chi square test were us

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Publication Date
Sat Sep 14 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Correlation between Serum Levels of Factor I, CD59, Interferon-gamma, and Interleukin-6 with the Response to Rituximab in Iraqi Patients with Rheumatoid Arthritis
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Background: Rituximab is a chimeric IgG1 kappa immunoglobulin that has been genetically modified to incorporate human constant region sequences together with murine light- and heavy-chain variable region sequences. People use it to treat rheumatoid arthritis and certain malignancies. Objective: The study aimed to assess the potential association between the serum levels of Factor I, CD59, interleukins (IL)-6, and interferon-gamma (IFN)-γ and the response to Rituximab treatment in Iraqi rheumatoid arthritis patients. Methods: A cross-sectional study was conducted at the rheumatology center at Baghdad Teaching Hospital. Ninety adult patients who have been diagnosed with rheumatoid arthritis and are receiving  Rituximab intravenous i

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Publication Date
Sun Sep 08 2024
Journal Name
Journal Of Ecohumanism
Academic Problems Among Iraqi University Professors: An Analytical Study
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The research aims to detect the problems of educational reality faced by university professors and identify statistically significant differences in the academic problems of university instructors. It has adopted an analytical descriptive research approach to achieve research objectives and identifies the study community with professors of public and private universities. A random sample of 250 instructors was selected for the purpose of applying the questionnaire to them, knowing the academic problems encountered in the course of their work at universities, and adopting appropriate statistical means to process and analyze the data. The research concluded with a set of results, including that all fields (infrastructure, admission of

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