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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
Mon Jul 01 2024
Journal Name
Medical Journal Of Babylon
Epidemiology of Colorectal Polyps in Iraqi Patients
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Abstract<sec> <title>Background:

A colorectal polyp (CRP) is a growth on the lining of the colon or rectum. The incidence of CRPs is rapidly increasing with age. They are most often benign. The rectum is the most commonly affected site.

Objectives:

To determine the incidence, clinical presentation, and histopathologic types of CRP in Iraqi patients.

Materials and Methods:

It is a cross-sectional screening study conducted in the medical c

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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Optimization of Glutathione S-Transferase in the Sera of Young Female Iraqi Patients with Diabetes Mellitus Type1
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This study was attempted to determine optimum conditions, for Glutathione s-Transferase enzyme, in sera of three groups diabetic patients type1 depending on duration of disease without complications compared with control group. The aim of this study was to find optimum conditions were determined such as (pH, Substrate Concentration, Temperature, Incubation time, Enzyme concentration, and effect of(0.15M)(0.25M) of mono divalent compounds). And to find the kinetics parameters in the three groups of diabetic patients when compared with control. It was found optimum pH(8.5,4.5,2.5,6.5).Temperatures(20cº,40cº,50cº,30cº). Incubation times (7min, 4min, 4min, 5min) substrate concentrations (12µl, 10µl, 5µl, 10µl) enzyme concentra

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Publication Date
Wed Sep 30 2015
Journal Name
Iraqi National Journal Of Chemistry
Evaluation of copper and zinc in Sera of Iraqi male patients with prostate cancer in Baghdad city
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Prostate cancer is an important and potentially fatal disease in humans. Both genetic and environmental risk factors are associated with increased risk of prostate cancer among Asian pop

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Publication Date
Wed Aug 31 2011
Journal Name
Ibn Al- Haitham J. For Pure & Appl. Sci
Effect Of Some Enzymes Activity In Liver Diseases From Patients Of Salmonella Paratyphi A With Iraqi Woman.
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This present study demonstrated that liver was involved in 14 %of typhoid patients manifesting with hepatomegaly. Elevation of serum enzymes in typhoid fever was presumably of a muscular origin, while elevation of liver enzyme was relatively less common. This study was performed on 30 female patients diagnosed by ultrasound (US) of abdomen, with paratyphoid A, ranged between (20-40) years compared with 30 healthy control .Patients volunteers were treated with appropriate antibiotics for 14 days and investigations were repeated 2-3 week after completion of treatment. Patients had clinical and biochemical evidence of hepatic dysfunction. The spectrum of hepatic involvement included hepatomegaly , jaundice, derangement of various hepatic func

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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)
Uric Acid as a Natural Scavenger of Peroxynitrite in a Sample of Iraqi Patients with Rheumatoid Arthritis
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Rheumatoid arthritis (RA) is a chronic inflammatory disease associated with decreased antioxidant state .This study aim to investigate the status of oxidant/antioxidant in a sample of  Iraqi patients with RA and the role of peroxynitrite and its natural scavenger uric acid in them .This case-controlled study was conducted at Baghdad teaching hospital /Baghdad from December 2010-May 2011 . Twenty-five patients with mean age 39 years and 25 apparently healthy subject as controls with mean age 29 years were included in the study .Investigations include estimation of serum levels of nitric oxide (NO)  ,peroxynitrite (PN) , malondialdehyde (MDA)  , and uric acid (UA) .Serum PN levels were significantly elevated in RA patients a

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Publication Date
Wed Dec 30 2020
Journal Name
Al-kindy College Medical Journal
Measurement of plasma fibrinogen and D-dimer in a sample of Iraqi patients with solid malignant tumors
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Background: Multifactor affect the pathogenesis of thrombosis in solid malignancy; however, a significant role is attributed to the cancer cells ability to interact with and activate the host hemostatic system. [1] 

Hemostasis is highly correlated to tumor growth, angiogenesis and metastasis, modulation of these pathways reflects interesting and promising treatment options in the future. [1]

Most patients with cancer frequently suffer from chronic compensated DIC and have abnormal laboratory coagulation tests without clinical manifestations of thrombosis, which is a subclinical hypercoagulable state that can be detected by varying degrees of activation of blood clotting. The results of laboratory tests in th

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Publication Date
Mon Apr 01 2019
Journal Name
World Heart Journal
Echocardiographic Evaluation of the Right Ventricular Function in a Sample of Iraqi Patients with Left Ventricular Dysfunction
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Background: Assessment of function of the right side of the heart in cases of left ventricular dysfunction has been widely studied but the sensitive and specific echocardiographic parameter to be tested is still a matter of controversy. Right ventricular function is related to left ventricular function by ventricular independence so function of both should be assessed carefully. The objective of this study was to evaluate the effects of left ventricular systolic dysfunction on right ventricular systolic and diastolic functions and pulmonary pressure using conventional and tissue Doppler echocardiography. Patients and Methods: Sixty patients (39 males and 21 females) with heart failure due to left ventricular systolic dysfunction

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Publication Date
Tue Oct 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Comparison of ََQuality of Life and Treatment Satisfaction among Sample of Iraqi Patients Using Anticoagulant Therapy (Warfarin or Non-Vitamin K Antagonist Oral Anticoagulants)
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Background: Oral anticoagulation medication, warfarin and non-vitamin k antagonist oral anticoagulants  (NOAC) may require long term use which may affect patients’ satisfaction with their treatment and their quality of life (QOL). Objective: To compare the quality of life and treatment satisfaction among groups of patients using different anticoagulant therapies (warfarin and NOAC). Patients and methods: A cross-sectional study was performed at Ibn Al-Bitar Hospital for cardiac surgery in Baghdad in the period between December 2022 to May 2023. The study population included a convenient sample of patients receiving either warfarin or non-vitamin k antagonist oral anticoagulants treatment. The Arabic version of the short form 12

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Publication Date
Wed Sep 18 2013
Journal Name
Advanced Materials Research
Artistic Influences Analysis of Iraqi National Costumes
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There were signs of the first civilization known to humanity for more than 6000 years BC in the north of Iraq have disappeared this civilization to appear after 500 years in southern Iraq, the Sumerian civilization, which was considered as the opinion of scientists or civilizations, exceeds the impact to Asia and the countries that had been in contact (Sumerians) and see them today in other towns and villages. In subsequent periods of time appeared distinct personalities to their nature, religious, social, special clothing with clothes seem especially long. And usually dress is made from raw wool material making them in the Sumerian era. Put the garment on the body and leaves the top of the right shoulder with the survival of an ope

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Publication Date
Tue Nov 01 2011
Journal Name
Journal
Frequency of autoimmune diseases and estimation of P53 among vitiligo patients
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KE Sharquie, AA Noaimi, SY Mohsin, 2011 - Cited by 4

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