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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
Sat Oct 01 2022
Journal Name
Iraqi Postgraduate Medical Journal
Helicobacter Pylori Infection among Dyspeptic Patients Referred for Endoscopy
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Functional dyspepsia is one of the most common gastrointestinal symptoms and attributed to various causes including Helicobacter pylori infection. AIM OF THE STUDY: To correlate Helicobacter pylori infection to functional dyspepsia and to identify the possible risk factors for this infection. PATIENTS AND METHODS: Fifty patients who were referred to the endoscopy unit for dyspepsia symptoms, secondary gastric causes of dyspepsia were excluded during endoscopy, gastric biopsies were taken for histopathological study and for bedside urease test for detection of Helicobacter pylori infection. RESULTS: 62% of non-ulcer dyspeptic patients were infected with Helicobacter pylori, 74.2% of the patients were above 30 years old, female gender patient

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Publication Date
Thu Nov 21 2019
Journal Name
Al-kindy College Medical Journal
Drug Resistant Epilepsy Among Patients Attended The Neurosciences Hospital
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Background: Drug resistant epilepsy is defined as failure of adequate trials of two tolerated, appropriately chosen and used antiepileptic drug schedules to achieve sustained seizure freedom. Up to 30% of patients referred to clinics with a diagnosis of pharmaco-resistant epilepsy may have been misdiagnosed, and many can be helped by optimizing their treatment.Pseudoresistance, in which seizures persist because the underlying disorder has not been adequately or appropriately treated, must be ruled out or corrected before drug treatment can be considered to have failed.

Objectives: The objectives of this study were to determine the causes of drug failure in patients with epilepsy and to differenti

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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
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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Scopus
Publication Date
Mon Oct 03 2022
Journal Name
The Egyptian Journal Of Hospital Medicine
Comparative Study of Sclerostin and Lipid Profile in Type 2 Diabetic Patients of Iraqi Women with Osteoporosis
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Background: Chronic hyperglycemia is the most frequent diabetes-related metabolic disorder because of faulty insulin action or production. According to the WHO, osteoporosis is a progressive systemic skeletal disorder that decreases bone mass and micro architecture bone tissue, increasing bone fragility and fracture risk. Nervosa damage determines how much a diabetic's body is damaged. Objective: The current work aimed to examines age, BMI, HbA1c, fasting blood glucose, sclerostin, and lipid profiles (TC, TG, HDL-C, VLDL-C, and LDL-C) in Iraqi T2DM menopausal women with /without osteoporosis to detect biomarkers in such condition. Subjects and Methods: 120 subjects were included in this study. They were divided into 3 groups; Group 1 (N = 4

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Publication Date
Mon May 15 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
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 hepa

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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 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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Crossref
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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