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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 Sep 30 2023
Journal Name
Iraqi Journal Of Science
Evaluation of the level of some Interleukins in serum of Iraqi patients with Endometrial Carcinoma
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Endometrial Cancer (EC) is one of the most common malignancy of the female reproductive system. With an increasing incidence, it is important to improve the new prognosis ways for its pre-diagnosis that must be early, accurate and effective. This study aimed to search for biological (like some new interleukins) which could help in early diagnosis of EC before the hysterectomy. Currently not enough research is being done exploiting linking between the interleukins submitted in this study and EC. Epically IL-36 and IL-38, which have been recently described and are still under study in the world. This study is the first of its kind in Iraq. Fifty-five patients with EC (mainly in their first or second stage, due to early diagnosis and who ne

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Publication Date
Fri Jun 07 2024
Journal Name
Medicine
Impact of TYMS gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients – identification of novel single nucleotide polymorphism: Cross-sectional study
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The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (TYMS gene in exon1 and partial regions of promotor and intron 1 [877 bp, 657,220–658,096 bp]) and the therapeutic outcomes for rheumatoid arthritis (RA) Iraqi patients. An observational cross-sectional study involving 95 RA patients with established RA patients based on their methotrexate treatment responsiveness. Genetic sequencing of the TYMS gene was performed for all patients according to the instruction manuals of the sequencing company (Macrogen Inc. Geumchen, South Korea). Four polymorphisms were identified by sequencing 95 randomly selected patients in the noncoding region of TYMS

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Free Fatty Acids and Biochemical Changes in Iraqi patients with Chronic Renal Failure
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Chronic renal failure (CRF) is progressive irreversible destruction of kidney tissue by disease which, if not treated by dialysis or transplant, will result in patient's death. This study was carried out on 30 patients (17 male and 13 female) with chronic renal failure. The aim of this research was studied the changes in the level of total protein ,albumin, calcium ,ionized calcium, phosphorous , iron ,ALP, LDH ,CK and FFA in patients with CRF before and after hemodialysis .The obtained results have been compared with 30 healthy subjects as control group (18male and 12 female). The results showed that there was significant increase in the level of calcium ,ionized calcium, phosphorous ,iron ,ALP,LDH,CK and FFA ,while there was a signifi

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Publication Date
Thu Apr 28 2022
Journal Name
Iraqi Journal Of Science
HLA-B genotype and Escherichia coli association in Iraqi patients with reactive arthritis
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Reactive arthritis (ReA) has been as joint developing after infection, it belongs to spongylo arthritis (SpA). The etiology of this disease was multi factorial, the combination between genetic and environmental factors for triggering this disease. This study included 75 Iraqi Arab patients and 39 healthy control. Urine samples and blood were collected from each subject. The results showed that Escherichia coli bacteria (E. coli) was isolated from 32% of urine samples. HLA-B*27 allele frequencies was higher in ReA patients infected with E. coli. This lead to suggest that E. coli may be trigger factor in ReA patients with UTI which had HLA-B*27 positive.

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Publication Date
Fri Mar 01 2024
Journal Name
Baghdad Science Journal
Evaluating the Fibroblast Growth Factor-23 and Phosphate in Iraqi Patients with Acromegaly
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Fibroblast growth factors-23 (FGF-23) are a class of cell signaling proteins produced by macrophages. They have a range of roles, but they play a particularly important role in the development of animal cells, where they are essential for appropriate growth. Phosphate, which is found in the body as both organic and mineral phosphate, plays crucial roles in cell structure, communication, and metabolism. Most phosphate in the body resides in bone, teeth, and inside cells, with less than 1% circulating in serum. The aim of the study is to evaluate the levels of the Fibroblast Growth Factors-23 and phosphate and receiver operating characteristic (ROC) in acromegaly patients against healthy control. A case control study Fibroblast Growth Fact

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Publication Date
Thu Jul 06 2023
Journal Name
Iraqi Journal Of Biotechnology
Impact of Helicobacter pylori in some Blood Parameters Change of Iraqi Patients with Gastritis Disease
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In order to find the relationship between Helicobacter pylori infection and hematological disease are disorders which primarily affect the blood and blood-forming organs. One hundred and three blood samples were taken for people aged (20-68) years for the period from 10/1/2021 to 1/3/2022, divided into three groups. The first group included 44-person H. pylori-infected with symptoms of infection, the second group had 19-person H. pylori-infected but without symptoms, and the third group included 40 people without H. pylori infection. All studied groups were carried out to measure anti-IgG Ab, Vac A and Ferritin by Enzyme Linked Immunosorbent Assay (ELISA) technique. The statistical analysis indicates a non-significant difference in Vac A (p

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Publication Date
Sat Feb 26 2022
Journal Name
Iraqi Journal Of Science
Evaluation of PARP-1 by immunohistochemistry in a sample of Iraqi patients with gastric cancer
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     PARP-1 is a protein enzyme with a major role in DNA repair that is overexpressed in many malignancies. It is correlated with susceptibility and metastasis to lymph nodes in gastric cancer (GC). The objective of the present investigation is to estimate PARP1 expression in patients with gastric cancer and detected if it could be used as a predictive marker. Furthermore, we aimed to find the correlation between PARP1 expression and clinicopathological parameters, such as gender, age, invasion depth, histopathological type, involvement of lymph nodes, grade, and stages of GC. This is a retrospective study from the period 2018-2020. Fifty randomly selected subjects (10 normal and 40 GC) were examined for formalin-fixe

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Publication Date
Sat Jun 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
The accuracy of cone-beam computed tomography in the evaluation of boney support of teeth among patients with a unilateral cleft of lip and palate among IraqiPopulation
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Background: To evaluate the bony supports of the teeth adjacent to the area of cleft in patient with unilateral cleft lip and palate and to compare these measurements with the measurements of the same teeth in non-cleft side by using CBCT. Materials and methods: The CBCT scans of 30 patients having cleft lip( unilateral) and palate(unilateral), were analyzed and the measurements of the alveolar bony support for teeth that are adjacent to the cleft area were measured with those teeth located on opposite side (non- clef) side. For each tooth, the measurements will taken for the distance between the( cementoenamel junction) (CEJ) and the bony crest (AC) at the( buccal area) was measured and the thickness of the buccal plate At zero, one, tw

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Publication Date
Sat Mar 02 2019
Journal Name
World Heart Journal
Assessment of the Left Ventricular Mass (LVM) among Patients with Diabetes in Relation to Age Using Doppler Echocardiography
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Background: Diabetes mellitus a major factor that has adverse effects on the vascular system and the heart. It causes an increase in cardiac muscle thickness, resulting in decreased compliance and increased peripheral arterial stiffness. This study aims to assess the left ventricular mass (LVM) and left ventricular hemodynamic changes in diabetic patients measured by Doppler echocardiography. Patients and Methods: The study included 50 diabetic patients ranging in age between 25 and 80 years, (mean age: 54.1 ± 15.10, 19 males, 31 females) and 50 healthy subjects, aged 25 to 80 years (mean age: 48.52 ± 14.45, 11 males, 39 females). Doppler echocardiography was used to assess left ventricular function. The measurements included

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Publication Date
Mon Dec 25 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Assessing Quality of Life Among Patients with Diabetes Mellitus, Hypertension or Both Diseases in Al-Najaf Province /Iraq
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this study deals with effect of diabetes and hypertension on quality of life

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