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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 Apr 30 2014
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Relationship Between Interleukin -33( IL-33) and C- Reactive Protein in Iraqi Women Patients with Celiac Disease
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Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig

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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
CYP2D6 Genotype in Relation to Liver Toxicity Due to Tetrabenazine in Iraqi Patients with Hyperkinetic Movement Disorders
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Abstract

The  common types of movement disorders are ; dystonia which is a syndrome  of  repetitive muscle contractions. While , Huntington disease is autosomal dominant progressive neurodegenerative disorder, which is characterized by involuntary movements (“chorea”).

Tetrabenazine therapy has been shown to effectively control this movements compared with placebo.

Design the proper dosing approach for patients treated with tetrabenazine with genotype polymorphisms and their hepatic effect on patients.

A prospective case controlled study was carried on 50 patients whom    divided into 2 groups :first group involved 25 patients who had cho

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Publication Date
Tue Jun 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Association between Serum Leptin Level and Insulin Resistance in Acromegalic Iraqi Patients with Type 2 Diabetes Mellitus
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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Trace Elements (Zinc, Copper and Magnesium) Status in Iraqi Patients with Acne Vulgaris :( Case- Controlled Study)
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Recently on the dermatological fields, the serum levels and the roles of Zn, Cu and Mg have been studied especially in acne vulgaris, but the results were controversial. The aim of the present study is to investigate  a relationship between the severity of acne and the serum levels of zinc (Zn), copper (Cu) and magnesium (Mg) and to demonstrate the status of serum levels of zinc, copper, and magnesium in Iraqi male patients with acne vulgaris and to compare it with those of healthy controls.This case controlled study was conducted in the Department of Dermatology and Venerology and in the Poisoning Consultation Center of Baghdad Teaching Hospital between May 2009 to January 2010. Forty- five male patients with acne vulgaris, their a

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Publication Date
Sat Dec 04 2021
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn: 2789-3219 )
Association between Lipid Profile and Glycemic Status in Iraqi patients with Acromegaly Receiving Depot Long-Acting Octreotide
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Background: Treatment modalities of acromegaly and disease control impact differently on glucose homeostasis and lipid changes, and consequently on cardiometabolic risk. Aim: To investigate the possible association of lipid profile changes with the glycemic control status in acromegaly patients treated with octreotide LAR. Methods: This cross-sectional study included 52 Iraqi patients with acromegaly treated with octreotide LAR and not using statins. Demographic, anthropometric, and clinical data were collected, as well as the duration of Octreotide LAR administration. The glycemic state was assessed and classified as DM, prediabetes, or normal. Plasma levels of triglycerides, LDL cholesterol, HDL cholesterol, and non-HDL were evalu

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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
Sun Feb 22 2026
Journal Name
Discover Public Health
Patients’ lived experiences, attitudes, and skills on insulin self-administration among diabetic patients: a cross-sectional study
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Publication Date
Sun Dec 06 2015
Journal Name
Baghdad Science Journal
Evaluating molecular study of the association of Glutathione S – Transferase GST (T1 , M1) genetic polymorphism in Iraqi Arab Femals with Type 2 Diabetes Mellitus and Coronary Artery Disease
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Coronary artery disease (CAD) is a major health concern and leading of death in individuals with type 2 diabetes mellitus (T2DM). Glutathione S – Transferase(GST) are known for their broad range of detoxification and in the metabolism of xenobiotics . The role of functional variants of these genes in the development of various disorder is proven. We investigated the possible role of these variants in the development of CAD in T2DM patients. In this case – control study a total of 60 patients (T2DM = 30 ; T2DM – CAD = 30) and 30 controls were included. Serum lipid profiles were measured and DNA was extracted from the blood samples. Multiplex PCR for GSTT1/M1 (present / null) polymorphism, were performed for genotyping of study pa

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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
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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