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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
Sun Sep 25 2022
Journal Name
Research Journal Of Biotechnology
Evaluation of Interlukein-6 and Vitamin D in Patients with COVID-19
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COVID-19 is a unique viral infectious illness that causes a variety of symptoms and health hazards, particularly to the respiratory system and has been declared a worldwide pandemic. The disease is characterized by a cytokine release in severe conditions. Interleukin-6 (IL-6), a proinflammatory cytokine, mediates an important immunomodulatory process. Also, vitamin D was identified to have a role in the innate immunity of individuals. Our study was designed to find the role of IL-6 and vitamin D in COVID-19 patients, as well as, to see whether there is a link between vitamin D deficiency and cytokine syndrome development. The study included 90 COVID-19 patients and 30 control people from Baghdad, Iraq. The age of the participants was non-s

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Publication Date
Thu Apr 18 2019
Journal Name
Al-kindy College Medical Journal
Correlating CT findings of stroke with hyperglycemia in acute ischemic stroke patients
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Background: Studies show that diabetic patients have a higher incidence of ischemic stroke than non-diabetic patients. In the Framingham study the incidence of thrombotic stroke was 25 times higher in diabetic men and 36 times higher in diabetic women than in those without diabetes

Objectives: aim of this study to analyze topography in diabetic patients.

Type of study:  Cross sectional study.

Methods: 48 patients with acute stroke were classified into 4 groups: euglycemic, stress hyperglycemia, newly diagnosed diabetics, and known diabetics.

Results:no significant differences were found in the type, site or size of st

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Crossref
Publication Date
Fri Mar 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Assessment of Dental Calculus, Plaque and GingivalInflammation in Patients with Urinary Stone
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Background: Dental calculus is mineralized dental plaque formed on teeth and dental prosthesis surfaces in the oral cavity. Urinary stone is a crystal aggregation formed in urinary system due to minerals saturation present in urine. The structure of dental calculus is similar to that of urinary stone. Objective: To assess oral hygiene and gingival status in patients with urinary stone. And compared with healthy subjects. Patients and Methods: Sixty participants, 25-40 years, were involved in this study who were divided into study and control group. The study group involved patients with urinary stone while the control group involved healthy subjects. Clinical parameters including plaque, calculus and gingival indices were recorded for al

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Publication Date
Wed Aug 30 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Deter1nination of Adenosin De Aminase (ADA) enzyme activity in patients with Salmonellosis
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!'hi_,  i1rycsligation  was  carried   ou1 dn J)Ct'iphcral  blom.l s_amplc:s.

wl1ich wendrawi·1  ih)rl1 patients  w.ith  l)1).hoid !'ever. Fifteen  palic111 nging ]5- 45 years old .<iS vvdl as ten sample::.  w:cr: c·ollec ted from healthy   persons-al     the  same   range  of   age.   Sera   were   used   t'or csti niation   the  act i vity  and   sp ci fie  activity  of  t\LJ.A.  The   resuJts sho:«"'d            sig11ltl'c u1t  increase i11&

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Cognitive Effects of Tumor and Surgical Treatment in Patients with Cerebral Gliomas
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Background: Quality of life in brain tumor patients is an emerging issue and has prompted neurosurgeons to recon¬sider the need for cognitive assessment in the course of treatment. To date there has been a lack of comprehensive neuropsychological assessment performed preoperatively and in the acute postoperative period in our hospitals.Objectives: to establish the effects of tumors and their surgical treatment, from a neuropsychological perspective, on cognitive functioning in patients with cerebral Gliomas. Methods: This is a prospective study conducted in the Neurosurgical Hospital in Baghdad, Iraq, during the period from January 1999 to January 2001. Any patient admitted during the period of the study with clinical history, signs, sy

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Publication Date
Thu Nov 21 2019
Journal Name
Al-kindy College Medical Journal
Magnetic Resonance Venography Findings In A Group Of Patients With Multiple Sclerosis
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Background: Multiple sclerosis is a chronic heterogeneous demyelinating axonal and inflammatory disease involving the Central Nervous System [CNS] white matter with a possibility of gray matter involvement in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to communicate, resulting in a wide range of signs and symptoms. Cerebral venous insufficiency theory was raised as a possible etiology for the disease at 2008 by Zamboni an Italian cardiothoracic surgeon. This theory was defeated by Multiple Sclerosis[ MS] researchers and scientists who thought that the disease is an autoimmune rather than vascular.

Obj

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Publication Date
Tue Nov 01 2016
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
The frequency of skin tumors and infections in patients with autoimmune diseases
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KE Sharquie, AA Noaimi, ZT Burhan, Journal of Cosmetics, Dermatological Sciences and Applications, 2016 - Cited by 9

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Publication Date
Tue May 01 2007
Journal Name
Saudi Medical Journal
Invasive squamous cell carcinoma of the eyes in patients with epidermodysplasia verruciformis.
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KE Sharquie, SA Al-Meshhadani, AA Al-Nuaimy, Saudi medical journal, 2007 - Cited by 9

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Publication Date
Fri Feb 25 2022
Journal Name
Egyptian Journal Of Chemistry
Design, molecular docking, synthesis, and in vitro pharmacological evaluation of biomolecules-histone deacetylase inhibitors conjugates with carbohydrazide as a novel zinc-binding group
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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Level of uric acid and its, relationship with lipid peroxidation in sera of patients with acute coronary syndrome
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Unstable angina pectoris often leads to acute myocardial infarction. Since uric acid is thought to be risk factor for cardiovascular disease and considered a major antioxidant in human blood .The level of uric acid and lipid peroxidation in the sera of patients with unstable angina and myocardial infarction were measured and compared to the healthy individuals. Twenty-nine patients with unstable angina and twenty-nine patients with myocardial infarction were studied and compared to twenty-five healthy individuals. Uric acid was measured by using Human Kit. Malondialdelyde (MDA) a lipid peroxidation marker, was measured by thiobarbituric acid method .Significant elevation of uric acid and MDA were observed in the sera of pati

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