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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
Fri Dec 01 2023
Journal Name
History Of Medicine
A comparative study of integrin- linked kinase 1 and anti-smith antibody as diagnostic biomarkers in Iraqi patients with systemic lupus erythematosus
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Systemic lupus erythematosus (SLE) is the prototypic multisystem autoimmune disorder with a broad spectrum of clinical presentations encompassing almost all organs and tissues. Aimes of study determination of integrin- linked kinase 1(ILK-1) and anti-smith antibody(ASAB) levels in serum of Iraqi patients with systemic lupus erythematosus, in addition, that ILK-1 may be as a diagnostic marker of SLE disease, and study the effect of systemic lupus erythematosus on renal function in these patients. This study included 100 females’ patients with systemic lupus erythematosus attending to the Rheumatology Unit in Baghdad Teaching Hospital, Medical City, (Baghdad), in addition to 30 healthy females as controller group were chosen without any chr

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Publication Date
Sun Dec 22 2024
Journal Name
Baghdad Science Journal
Evaluation of Retinol Binding Protein 4 Level in Iraqi Patients with Type 2 Diabetes and Pre-diabetes Status as a Predictive Factor
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تضاعف انتشار مرض السكري من النوع 2 في السنوات الأخيرة نتيجة الخلل في إنتاج الأنسولين ، والذي يمكن أن يتطور ليشكل مضاعفات مرض السكري التي تؤثر على الكلى والأعصاب والعينين. ونتيجة لذلك ، فإن التشخيص المبكر والتصنيف لمرض السكري من النوع الثاني ضروريان لمساعدة الطبيب على التقييم. وفقًا لذلك ، هدفت الدراسة الحالية إلى تحديد مستويات بروتين ارتباط الريتينول 4 (RBP4) في المرضى الذين يعانون من السكري النوع الثاني وم

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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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Crossref
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
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
Sat Oct 01 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Neudesin Levels in Patients with Thyroidism
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Background: Neudesin is a peptide secreted in brain and adipose tissues that has neural and metabolic functions. Its role as regulator of energy expenditure leads to assumption that its level may be regulated depending on thyroid gland pathology. Objective: This study aimed to investigate serum neudesin levels in patients with thyroidism and to evaluate1 any possible relationship between plasma neudesin levels and thyroid hormone levels. Methods: The study included 100 women with newly diagnosed thyroidisim were subdivided into two groups: hyperthyroidism group (50 female patients with age ranged from 18 to 60 years) and hypothyroidism group (50 female patients with age ranged from 18 to 75 years). A control group (30 healthy females with a

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Crossref
Publication Date
Wed Jan 01 2020
Journal Name
Revista Latinoamericana De Hipertensión
Autonomic symptoms in patients with migraine
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Scopus
Publication Date
Sat Jun 06 2026
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 Jun 06 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Photogrammetric analysis of facial soft tissue profile of Iraqi adults sample with Class II div.1 and Class III malocclusion: (A comparative 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 II div.1 and class III malocclusion using standardized photographic techniques and to verify the existence of possible gender differences. Materials & methods: Seventy five Iraqi adult subjects, 50 class II div.1 malocclusion (24 males and 26 females), 25 class III malocclusion (14 males and 11 females), with an age range from 18-25 years. Each individual was subjected to clinical examination and digital standardized right side photographic records were taken in the natural head position. The photographs were analyzed using AutoCAD program 2007 to measure the distances and angles used in t

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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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