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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 Jul 01 1990
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
NEMATODE PARASITES OF SOME IRAQI BATS
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Three species of nematodes are recorded from alimentary tracts of some Iraqi bats for the first tithe, while reporting Thelandros alatus constitutes first record of this species from mammals. Information on infection rate, distribution and halts are provided along with some relevant remarks.

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Publication Date
Fri Mar 01 2024
Journal Name
International Immunopharmacology
Evaluation of interleukins (IL-1α, IL-1Ra, IL-12, IL-17A, IL-31, and IL-33) and chemokines (CXCL10 and CXCL16) in the serum of male patients with ankylosing spondylitis
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Publication Date
Mon Feb 20 2023
Journal Name
Pakistan Heart Journal
Special exercises for some physical, kinetic and electrical abilities accompanied by symmetrical electrical stimulation in the rehabilitation of the muscles of the legs for patients with simple hemiplegic cerebral palsy
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The purpose of this paper is to identifying some of the physical, kinetic and electrical capabilities of the working muscles of patients with simple hemiplegic cerebral palsy, preparation of special exercises (rehabilitation and water) accompanied by symmetrical electrical stimulation in the rehabilitation of working muscles for patients with simple hemiplegic cerebral palsy, and identifying the effect of exercises, especially (rehabilitation and water), accompanied by symmetrical electrical stimulation, on some physical, kinetic and electrical capabilities in rehabilitating working muscles for patients with simple hemiplegic cerebral palsy. The researcher used the experimental approach with a one-group design with two pre and post-tests du

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Publication Date
Sun Sep 01 2019
Journal Name
Journal Of Physics: Conference Series
Autoantibody Profile in Systemic Lupus Erythematosus Patients
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Abstract<p>Systemic lupus erythematosus (SLE) is an autoimmune disease, in which the etiology is not well-understood; however, interactions between environmental and genetic factors in predisposed individuals have been recognized. As a consequence, immunological alternations occur and immune cells are involved, especially T and B lymphocytes that are activated to produce different immune components. Among these components are autoantibodies that react with self-antigens aside from non-self-antigens due to the proposed theory of molecular mimicry. Accordingly, the current study was designed to examine the profile of different autoantibodies in SLE patients by using the indirect membrane based enzyme immunoassay </p> ... Show More
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Publication Date
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For
Relation Study between Chromogranin a and Other Clinical Biomarker in Iraqi Children with Growth Hormone Deficiency Undergo Treated Via Recombinant Growth Hormone
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Growth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children

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Publication Date
Tue Jan 02 2018
Journal Name
International Journal Of Science& Nature
HYPOTHYROIDISM IN PEDIATRIC PATIENTS: MODE OF PRESENTATION AND TREATMENT OUTCOME
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ABSTRACT The present study was conducted to determine the mode of presentation of hypothyroidism in pediatric patients and the effects of timing of diagnosis and therapy on the patient’s outcome. The study involved review and evaluation of the medical records of 41 registered patients in the Endocrine clinic of Children Welfare Teaching Hospital in Baghdad during the period from January 1991 to July 2007. Forty one patients included in this study. Twenty four (58.5%) were males and17 (41.4%) were females with a male to female ratio of 1.4:1, their age range is 40 days to12.3 years. The majority of the studied patients were infants 19(47%). The most commonly observed presenting features were growth retardation and short stature. The best t

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Publication Date
Sat Jan 01 2022
Journal Name
Annals Of Parasitology
The effect of toxoplasmosis on renal function in hemodialysis patients
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Toxoplasma gondii is an obligate intracellular protozoan parasite; it spreads via the circulatory system during infection and causes chronic infection in various organs. Toxoplasmosis affects nearly one third of people worldwide, especially immunocompromised people. This study aimed to determine the effect of toxoplasmosis on renal function in hemodialysis patients. Overall 300 patients referred to the Medical City, Al-Karama General Hospital, Baghdad, Iraq were enrolled from 2021 to 2022. All serum samples were tested for T. gondii immunoglobulins (IgG and IgM) antibodies, urea and creatinine levels. In patients undergoing hemodialysis, the results revealed a high positivity percentage for anti-Toxoplasma IgG. In hemodialysis patients infe

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Publication Date
Fri Nov 02 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation of nurses practices toward patients who undergo cardiac catheterization
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Objective: To evaluate the nurse's practices and it's relationship between with thier demographic characteristic.
Methodology: A descriptive study was carried out , from January 15th 2002 to April 15th 2002 , to evaluate the
nurse’s practices toward patients who undergo cardiac catheterization . A purposive sample of ( 65 ) nurse , was
selected out of three teaching hospitals in Baghdad city . These nurses were worked at the catheterization units
and catheterization labs .A questionnaire was constructed for the purpose of the study , which comprised of three
major parts in which there were ( 45 ) items . Reliability and validity of the questionnaire were determined
through the conduct of a pilot study .
Data were c

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Publication Date
Mon Sep 22 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Evaluation of oral health status in patients receiving antiepileptic medications
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Background: Epilepsy is a common neurological disorder of incidence rate 1-2%. Genetic, congenital, developmental, tumors, head trauma and central nervous system infections maybe the cause of epilepsy. This study aimed to determine the prevalence of stomatitis, xerostomia and taste disorder among patients taking carbamazepine or sodium valproate and to make salivary analysis for IgA, cystatin c and salivary flow rate. Material and method:This study performed in al- Yarmuk teaching hospital in Baghdad, Samples consist of (70) epileptics half of them treated with carbamazepine and other half treated with sodium valproate, and (18) healthy control group of both genders and with different ages to detect the prevalence of oral manifestations, s

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Publication Date
Mon Jun 03 2013
Journal Name
Al-kindy College Medical Journal
Conservative Treatment of Closed Fracture Shaft Humerus in Adult Patients
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Background: Fractures of the humeral shaft accounting for approximately 3% of all fractures. There is a wide array of good options for their treatment and controversy over the best methods. Although good techniques of osteosynthesis are available, the aim of this article is toemphasize on the benefit and good outcome of conservative treatment for properly selected cases to decrease the cost and avoid the complications of surgery. Method : During the period from February 2011 to June 2012 fifty-five fractures of humeral shaft were treated at orthopedicdepartment in the ALKindyteaching hospital. 22 fractures considered suitable for the study. The patients treatedconservatively by using the‘U’ shaped coaptation slab. Then we shift to POP c

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