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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
Thu Sep 30 2004
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Acid Treatment of Iraqi Paraffin Wax
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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
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
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 Aug 30 2021
Journal Name
Al-kindy College Medical Journal
Psychosocial Impact of Childhood Cancer on Patients and their Families
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Background: The presence of cancer has a profound psychological impact on the quality of life of patients and their families, on family and social relationships, and on role functioning.

Aim of the study: Assess the impact of childhood cancer on patients and their families.

Subjects and methods: A Prospective questionnaire-based study, for 151 patients, had malignancy identified by tumor registry of Children Welfare Teaching Hospital. The information was taken from the parent(s) in the presence of the patient who sometimes answered some questions during the interview.

Result: There was an interview with 151 families of children with cancer in t

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Patients' Satisfaction toward Nursing Care at Hemodialysis units
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Objectives: To assess patients' satisfaction to nursing care at hemodialysis units and determine the relationship
between patients' satisfaction and patients' demographic data.
Methodology: A descriptive study was carried out at hemodialysis units of Baghdad teaching hospitals from Feb.
4
th
, 2010 through Sep. 5
th, 2010. A purposive (non-probability) sample of (150) patients ta hemodialysis units ni
Baghdad teaching hospitals was selected. The data were collected through the use of constructing questionnaire
and by means of an interview technique with the patients; the questionnaire consists of two parts (1)
demographic data (2) patients' satisfaction to nursing care. The validity of the study questionnaire w

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Measurement of some Biochemical Values in Hemodialysis Patients in Baghdad
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One hundred of dialysis patients' mean age ( 51.18±8.28) years and one hundred healthy control group , where carried out  from different hospitals of Baghdad city , during the period between November /2012 until March/2013. Blood samples were collected before dialyzing for estimation   the concentration of urea, creatinine, uric acid, random blood sugar , calcium and cholesterol by enzymatic method detected spectrophotometerically.

The  aim of this  study is   to determine concentration of urea, creatinine, uric acid, RBS , calcium and cholesterol in hemodialysis patients in Baghdad . The results showed that there were  highly significant increases (P<0.01) in the mean of creatinine ,

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Publication Date
Wed Jan 01 2020
Journal Name
Transplantation Proceedings
Outcomes of SGLT2 Inhibitors Use in Diabetic Renal Transplant Patients
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Publication Date
Wed Sep 16 2020
Journal Name
Al-kindy College Medical Journal
STUDY OF TINEA PEDIS IN DIABETIC VERSUS NON-DIABETIC PATIENTS
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Background : The aim of this work is to study the clinical features and causative fungi of tinea pedis in diabetic and non-diabetic patients. Result : Tinea pedis was estimated to be the second most common skin disease in the United States, after acne. Up to 15% of the U.S., population may have tinea pedis. Across Europe and East Asia, prevalence rates reach 20 %. Methods: The Complete history taking regarding: age, sex, occupation, residency, history of diabetes and diabetic profile (fasting blood sugar and post prandial).and Clinical examination of the feet Aim of the study : The aim of this work was to study the clinical features and causative fungi of tinea pedis in diabetic and non-diabetic patients Conclusion : Tinea pedis is more

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Publication Date
Sun Jun 01 2025
Journal Name
Medical Journal Of Babylon
Detection of Human Parvovirus (B19) in Beta Thalassemia Major Patients
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Abstract<sec> <title>Background:

Beta-thalassemia major (β-TM) is inheritable condition with many complications especially in children. The blood-borne viral infection was proposed as a risk factor due to recurrent blood transfusion regimen (hemotherapy).

Objectives:

This study aimed to investigate Human parvovirus B19 (PVB19) prevalence in β-TM patients by serological and molecular means.

Materials and Methods:

This is a cross-section

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