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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
Sun Jan 01 2023
Journal Name
Journal Of Biomechanical Science And Engineering
A COMPARATIVE STUDY OF RETN GENE 3ʹ-UNTRANSLATED REGION POLYMORPHISM RS1862513 IN IRAQI PATIENTS WITH TYPE 1 AND TYPE 2 DIABETES MELLITUS
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Both type 1 diabetes and type 2 diabetes have a genetic component, with over 60 chromosomal regions related to type 1 diabetes and over 200 connected with type 2 diabetes at significant genome-wide levels. Numerous single nucleotide polymorphisms in the RETN gene and genetic variables can account for up to 70% of the variations in circulating resistin levels. The RETN polymorphism has been linked in numerous studies to obesity, insulin sensitivity, type 2 diabetes, and cerebrovascular illness. Our objective is to compare this RETN gene 3ʹ-untranslated region polymorphism in type 1 diabetes and type 2 diabetes Iraqi patients. We choose 51 type 1 diabetes and 52 type 2 diabetes patients against 50 healthy subjects (control group) to investig

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Scopus
Publication Date
Wed Mar 15 2023
Journal Name
Journal Of Survey In Fisheries Sciences
The Correlation of DAZ1 Gene Methylation with Azoospermia in Iraqi Infertile Men
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After about twelve months or maybe more, some people can’t achieve pregnancy. This might be a sign of infertility as a reproductive system disease. The following study was carried out to investigate the DAZ 1 gene methylation level and its association with azoospermia in Iraqi patients. One hundred and fifty human blood samples were collected from from different regions in Baghdad governorate, including (private medicals Labs and the high institute for infertility diagnosis assisted reproductive techniques and Kamal Al- Samara'ay IVF Hospital) from both fertile and infertile men. The control group consists of 50 samples ranging from 22 to 51 years old, while the patient (infertile group) consists of 100 samples ranging between 25 and 51 y

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Publication Date
Mon Jan 01 2024
Journal Name
Open Life Sciences
Evaluation of the role of some non-enzymatic antioxidants among Iraqi patients with non-alcoholic fatty liver disease
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Abstract<p>Non-alcoholic fatty liver disease (NAFLD), characterized by hepatic fat accumulation in individuals consuming little or no alcohol, has become highly prevalent globally. Oxidative stress plays a central role in instigating inflammation and cell death pathways driving NAFLD progression. This case–control study aimed to elucidate the association between circulating levels of the pivotal non-enzymatic antioxidants – coenzyme Q10 and vitamins E and C – and liver injury parameters among 60 Iraqi NAFLD patients versus 30 healthy controls. NAFLD diagnosis entailed over 5% hepatic steatosis on ultrasound excluding other etiologies. Patients spanned three age groups: 20–29, 30–39, an</p> ... Show More
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Publication Date
Tue Sep 19 2017
Journal Name
Journal Of Neoplasm
The stage of breast cancer at the time of diagnosis: correlation with the clinicopathological findings among Iraqi patients
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Background: Breast cancer is the most frequently diagnosed malignancy and the second leading cause of mortality among women in Iraq forming 23% of cancer related deaths. The low survival from the disease is a direct consequence to the advanced stages at diagnoses. Aim: To document the composite stage of breast cancer among Iraqi patients at the time of diagnosis; correlating the observed findings with other clinical and pathological parameters at presentation. Patients and Methods: A retrospective study enrolling the clinical and pathological characteristics of 603 Iraqi female patients diagnosed with breast cancer. The composite stage of breast cancer was determined according to UICC TNM Classification System of Breast Cancer and the Ameri

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Publication Date
Thu Jan 14 2016
Journal Name
International Journal For Sciences And Technology
Evaluation of her/2-neu gene status using FISH/CISH techniques in Iraqi breast carcinoma patients
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The present study aimed to examine the concordance between FISH/CISH techniques for assessment of amplification of her2neu gene in Iraqi breast carcinoma patients. Seventy four (74) Iraqi breast cancer patients were involved at the study from the Histopathology Department at the Central Public Health Laboratory in Bagdad, Iraq. Amplification of HER2neu was detected in (33.8%) by fluorescence in situ hybridization and (13.51%) showed high amplification by chromogenic in situ hybridization and (32.43%) showed low amplification. The results of chromogenic in situ hybridization were significantly correlated with the results of two-color fluorescence in situ hybridization with the same tumors. In addition, the study involved the correlation betw

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Publication Date
Thu Mar 14 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Impact of MDR-1 Gene Polymorphism (rs1128503) on Response to Imatinib or Nilotinib in Iraqi Patients with Chronic Myeloid Leukemia: An Observational Study
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Background: There is a significant molecular response to imatinib given at standard doses in individuals with chronic myeloid leukemia (CML) whose ABCB1 polymorphisms are present. Objective: To investigate the impact of the polymorphism in the ABCB1 gene rs1128503 on the effectiveness of nilotinib or imatinib therapy. Methods: From May 2022 until the end of January 2023, the current study was carried out in a single research institution, the National Center of Hematology, Baghdad Teaching Hospital at Medical City, Iraq. 76 people with chronic phase myeloid leukemia (CML-CP), who had previously received a diagnosis using the European Leukemia Net (ELN) criteria, enrolled in the trial. The PCR product was delivered to Macrogen Corpora

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Publication Date
Thu Feb 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
A Novel Single Nucleotide Polymorphism of Interleukin-10 Gene is Linked to Type 2 Diabetes Mellitus in Iraqi Patients with Toxoplasmosis(Conference Paper )#
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Type 2 diabetes mellitus (T2DM) is a chronic disorder that is a serious health concern all over the globe, it is linked to Interleukin-10 (IL-10) single nucleotide polymorphisms (SNPs) at the promoter region. On the other hand, diabetes influences the cellular and humoral immunity predisposing the patient to a variety of opportunistic parasites one of them is Toxoplasma gondii (T. gondii), which may infect any nucleated cell, including pancreatic cells. The purpose of this research was to explore the association of IL-10 genetic polymorphisms with T2DM and latent toxoplasmosis among Iraqi patients with T2DM. Fifty-five and fifty-eight venous blood samples were taken from T2DM patients and age-matched non-diabetic person

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Publication Date
Sun Jun 21 2020
Journal Name
Baghdad Science Journal
Detection of Aflatoxin B1 among Early and Middle Childhood Iraqi Patients
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      The study was conducted for the detection of Aflatoxin B1(AFB1) in the serum and urine of 42 early and middle childhood patients (26 male and  16 female ) with renal function disease, liver function disease, in additional to atrophy in the growth and other symptoms depending on the information within consent obtained from each patient, in addition to 8 children, apparently healthy, as  the control. The technique of HPLC was used for the detection of AFB1 from all samples. The results showed that out of 42 patient children, 19 (45.2%) gave positive detection of AFB1 in the serum among all age groups patients with a mean of 0.88 ng/ml and a range of (0.12-3.04) ng/ml. This was compared with the cont

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Publication Date
Fri Oct 01 2010
Journal Name
J Saudi Soc Dermatol Dermatol Surg
Outbreak of Thallium poisoning among Iraqi Patients: A case descriptive study
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KE Sharquie, GA Ibrahim, AA Noaimi, HK Hamudy, J Saudi Soc Dermatol Dermatol Surg, 2010 - Cited by 2

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Publication Date
Sun Sep 01 2019
Journal Name
Baghdad Science Journal
Detection of 16S rRNA Methylases and Co-Resistance with β-lactams among Klebsiella pneumoniae Isolates from Iraqi Patients
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Out of 150 clinical samples, 50 isolates of Klebsiella pneumoniae were identified according to morphological and biochemical properties. These isolates were collected from different clinical samples, including 15 (30%) urine, 12 (24%) blood, 9 (18%) sputum, 9 (18%) wound, and 5 (10%) burn. The minimum inhibitory concentrations (MICs) assay revealed that 25 (50%) of isolates were resistant to gentamicin (≥16µg/ml), 22 (44%) of isolates were resistant to amikacin (≥64 µg/ml), 21 (42%) of isolates were resistant to ertapenem (≥8 µg/ml), 18 (36%) of isolates were resistant to imipenem (4- ≥16µg/ml), 43 (86%) of isolates were resistant to ceftriaxone (4- ≥64 µg/ml), 42 (84%) of isolates were resistant to ceftazidime (1

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