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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 Nov 01 2023
Journal Name
Clinical Epidemiology And Global Health
The association of interleukin-10 single nucleotide polymorphisms (rs1800871) and serum levels in Iraqi patients with celiac disease: A case-control study
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Publication Date
Fri Sep 30 2022
Journal Name
International Journal Of Health Sciences
Relation of retinol binding protein4, visfatin and vitamin a in obese and non obese Iraqi patients with non alcoholic fatty liver disease
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One of the most common public liver diseases over the world is fatty liver which contain alcoholic and non-alcoholic fatty liver. One-fourth among general population are impact Non-Alcoholic Fatty Liver Disease (NAFLD) in the worldwide.Retinol binding protein 4 (RBP4) is known as an adipokine, mainly synthesized and secreted from the liver and form adipose tissues. RBP4 acts as a transporter and specifically bound to retinol from liver to others tissues. Visfatin is an adipocytokine and mainly produced from visceral fat tissue, skeletal muscles as well as liver. Vitamin A absorbed, transported as retinyl esters to the liver then hydrolyzed to the retinol form and storage in hepatic stellate cells (HSCs) after reesterified with rigly

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Publication Date
Thu Oct 01 2009
Journal Name
Saudi Med J
The frequency of 21-alpha hydroxylase enzyme deficiency and related sex hormones in Iraqi healthy male subjects versus patients with acne vulgaris
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KE Sharquie, AA Noaimi, BO Saleh, ZN Anbar…, Saudi Med J, 2009 - Cited by 13

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Publication Date
Tue Jun 11 2019
Journal Name
Al-kindy College Medical Journal
Indications of Intravitreal Injection of Bevacizumab in a sample of Iraqi patients
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Background: Anti-vascular endothelial growth factors commonly used intravitreally for treatment of variable retinal disease worldwide, which help to regulate the upregulation of vascular endothelial growth factors due to ischemia or/and other retinal insult.

Objective: To review all cases of intravitreal bevacizumab given in the retinal unit of the Eye Specialty Private Hospital in Iraq from December 2015 to June 2016, pointing out the common indications.

Methods: A retrospective study including all cases of intravitreal injections of bevacizumab recorded at the Eye Specialty Private Hospital from December 2015 to June 2016 were retrieved. Age, sex, laterality, diagnosis

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Publication Date
Sat Nov 22 2025
Journal Name
Iraqi Journal Of Biotechnology
DETECTION OF GENE EXPRESSION OF SERINE PALMITOYLTRANSFERASE (SPT2) IN MOUSE CELL LINE RAW264.7 INFECTED WITH LEISHMANIA MEXICANA AMASTIGOTES
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Leishmania species are the causative agent of a tropical disease known as leishmaniasis. Previous studies on the old world species Leishmania major, showed that the amastigotes form which resides inside the macrophage of the vertebrate host, utilize host’s sphingolipids for survival and proliferation. In this study, gene expression of serine palmitoyltransferase (SPT) subunit two (MmLCB2) of the mouse macrophage cell line (RAW264.7), which is the first enzyme in the de novo sphingolipid biosynthesis, was detected in both infected and non-infected macrophages. This was detected under condition where available sphingolipid was reduced, with the new world species Leishmania mexicana. Results of qPCR analysis showed that there was no differen

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Publication Date
Sat Sep 30 2023
Journal Name
Journal Of The College Of Education For Women
Topic Management in Selected Dementia Patients' Speeches: A Clinical Discourse Analysis Study
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Topic management is the awareness of how speakers deal with initiating, developing, changing, and ending a topic and how they fix the relationship when a misunderstanding occurs. It is such an important unit of conversation as it includes the transition from one strategy to the other to be accomplished in a systematic and orderly manner. These strategies are impaired in dementia patients thus lead to communication breakdown. This study aims at detecting the dementia patients' topic management strategies in selected speeches and answering the questions of which of these strategies are fully or partially detected in these speeches. The researchers use a qualitative method to examine the speeches of those patients and they adopt an eclectic

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Diversity Assessment by Molecular Barcoding and Seed Morphology in Ricinus communis L.: Molecular diversity of Ricinus seeds
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Fourteen morphologically varied Ricinus communis L. seeds were collected from different localities in Egypt, El-Sudan and Saudi Arabia. Seed morphology and ITS barcoding analysis were performed to assess their diversity and phylogenetic relationship. Sequence’s alignment of nrITS region from different accessions display high levels of genetic similarities. Cluster analysis could not group different accessions according to their geographical distribution. Nevertheless, the genetic barcodes are interestingly matched with the morphological features of the Ricinus seeds. In conclusion, seed morphology proved to be a valuable tool in evaluating biodiversity and phylogenetic relationship in plant species with different loca

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Abdominal Distention and Acute Urinary Retention secondary to Congenital Distal Vaginal Obstruction in a Newborn Female
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Congenital distal vaginal obstruction is usually asymptomatic in a newborn female. On rare occasions, it may present as an acute emergency with life threatening complications.This paper is reporting the rare condition of two newborn females presenting urgently with abdominal distension and acute urinary retention as a result of congenital distal vaginal Obstruction. The case history and urgent management shall be presented and both conditions shall be discussed.

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Publication Date
Tue Jan 09 2024
Journal Name
Nigerian Journal Of Parasitology
Toxoplasmosis and Metabolic Disorders among Children with Autism.
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Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
Iraqi stock market structure analysis based on minimum spanning tree
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tock markets changed up and down during time. Some companies’ affect others due to dependency on each other . In this work, the network model of the stock market is discribed as a complete weighted graph. This paper aims to investigate the Iraqi stock markets using graph theory tools. The vertices of this graph correspond to the Iraqi markets companies, and the weights of the edges are set ulrametric distance of minimum spanning tree.

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