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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 Nov 10 2025
Journal Name
Mustansiriya Medical Journal
Dermatological Diseases among children Attending Al-Yarmouk Teaching Hospital-Outpatient Department of Dermatology
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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
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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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
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Prevalence of Urinary Tract Infections in Adult and Child Patients
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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
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
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
Wed Jan 30 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.

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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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