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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
Fri Mar 01 2019
Journal Name
Archives Of Plastic Surgery
Surgical outcomes of 14 consecutive bilateral cleft lip patients treated with a modified version of the Millard and Manchester methods
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Background Bilateral cleft lip deformity is much more difficult to correct than unilateral cleft lip deformity. The complexity of the deformity and the sensitive relationships between the arrangement of the muscles and the characteristics of the external lip necessitate a comprehensive preoperative plan for management. The purpose of this study was to evaluate the repair of bilateral cleft lip using the Byrd modification of the traditional Millard and Manchester methods. A key component of this repair technique is focused on reconstruction of the central tubercle.

Methods Fourteen patients with mean age of 5.7 months presented with bilateral cleft lip deformity and were operated on using a mod

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Publication Date
Wed Aug 30 2023
Journal Name
Baghdad Science Journal
Hepatocellular Carcinoma Prediction and early Diagnosis of Hepatitis B and C viral infection using miR-122 and miR-223 in a sample of Iraqi patients.
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Hepatocellular carcinoma (HCC) is the third most common cause of cancer-related death. Therefore, it is critical for researchers to understand molecular biology in greater depth.  In several diseases including cancer, abnormal miRNA expression has been linked to apoptosis, proliferation, differentiation, and metastasis. Many miRNAs have been studied in relation to cancer, including miR-122, miR-223, and others. Hepatitis B and C viruses are the most important global risk factors for HCC. This study is intended to test whether serum miRNAs serve as a potential biomarker for both HCC and viral infections HBV and C. The expression of miRNA in 64 serum samples was analyzed by RT-qPCR. Compared to healthy volunteers, HCC patients' sera expre

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Publication Date
Sat Aug 05 2023
Journal Name
Molecular Biology Reports
The relationship between OXT gene polymorphisms and reproductive hormones in pregnant and lactating Awassi Ewes
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Publication Date
Thu Jan 06 2022
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Associated Risk Factors with the Incidence Rate of Abortion Cases among Women at Maternity and Pediatric Hospital in Al-Diwaniyah City
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Objective(s):  To find out the incidence Rate of abortions in pregnant women Admitted Maternal and pediatric Hospitals at Al-Diwaniyah City and to identify the relationship between the incidence rate of abortion and the associated risk factors that led to the occurrence of abortion.

Methodology: A descriptive study was conducted to identify the Incidence Rate of Abortions and its Associated Factors among Women at AL-Diwaniyah City’s Maternity and pediatric Hospital from 16 September 2020 to 16 March 2021 . The sample study includes (100) pregnant women with abortion out of (3800) pregnant women. The data was collected by means of a questionnaire through a personal intervie

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Publication Date
Mon Jul 07 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Prevalence and severity of molar-incisor hypomineralisation with relation to its etiological factors among school children 7- 9 years of Al-Najaf governorate
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Background: Molar Incisor hypomineralisation (MIH) is one of the biggest challenges with great clinical interest. Currently, the etiology of MIH remains unclear. There is no previous study concerning school children aged 7 – 9 years in Al-Najaf governorate in order to estimate the prevalence and severity of molar incisor hypomineralisation and the possible associated risk factors. This study aimed to estimate the prevalence, severity and the possible associated etiological factors of molar incisor hypomineralisation and also to study the correlation between body mass index and molar incisor hypomineralisation. Material and Methods: Across sectional study conducted at Al-Najaf Governorate. A total of 600 children were enrolled those

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Publication Date
Thu Feb 24 2022
Journal Name
Journal Of Educational And Psychological Researches
The Effectiveness of a Rational Emotional Behavioral Program in Developing Self-Efficacy to Reduce the Burnout among Teachers of Students with Autism Disorder
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The aim of this study is to identify the effectiveness of a rational, emotional, behavioral program in developing self-efficacy to reduce the level of Burnout in 20 teachers of students with autism disorder in Jazan, Saudi Arabia. The proposed program included 12 training sessions. The researcher found that the proposed program has contributed significantly to the development of self-efficacy and reduce the level of Burnout for the targeted subject in this study.

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Publication Date
Fri Dec 14 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of Teaching Program on Nurses' Knowledge Concerning the Side Effects of Chemotherapy among Children with Leukemia at Oncology Wards in Baghdad City
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Objective(s): to assess the effectiveness of educational program on nurses' knowledge concerning the side
effects of chemotherapy among children with leukemia.
Methodology: A descriptive analytic (quasi – experimental) design study was carried out at Baghdad City from
2
nd of October to 27th of June 2015. Non-probability sample of (35) male and female nurses was selected from
the Oncology Wards in Children Welfare, Child's Central and Baghdad Teaching Hospital. The study
instruments consisted of two major parts to meet the purposes of study. The first part is related to nurses'
demographic characteristics and the second part (four domains) is related to nurses' knowledge concerning the
side effects of chemothera

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Publication Date
Wed Aug 01 2018
Journal Name
Ecotoxicology And Environmental Safety
Biochemical and molecular alterations in freshwater mollusks as biomarkers for petroleum product, domestic heating oil
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Publication Date
Mon Jul 07 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Congenitally missing and supernumerary teeth among a group of 3-12 years old children with cleft lip and/ or palate in Iraq
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Background: There are many congenital anomalies associated with cleft lip and/or palate. This research is to study the prevalence of congenitally missing teeth and supernumerary teeth in this population group. Materials and Method: One hundred eight cleft lip and/or palate Iraqi patients had participated in this study (57 male, 51 female), 3-12 years of age. 26 of them had orthopantomogram were within (6-12) years of age were inspected for congenitally missing teeth and supernumerary teeth. Patients whom age range 3-5 years were checked for the congenitally missing teeth by clinical examination with strongly insisting the teeth were not missed due to caries or trauma. Results: There were 19(73.076%) patients with 41 congenitally missing tee

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Publication Date
Wed Jan 01 2020
Journal Name
Euromediterranean Biomedical Journal
ESCHERICHIA COLI O157: H7 INVESTIGATION IN CHILDREN WITH DIARRHEA: AN IRAQI CROSS-SECTIONAL STUDY
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NA Nasir, SHM Ali, HQMA AL-Ess, WA Hussein, MKW Al-Janabi, KIA Mohammed, JM Mosa, Euromediterranean Biomedical Journal, 2020

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