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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 Mar 19 2023
Journal Name
Journal Of Educational And Psychological Researches
Family Neglect and Its Relationship with Internet Addiction among University Students
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Abstract

The research aims to measure family negligence and its relationship with internet addiction among university students. The researcher has developed a scale of (20) items to measure the negligence of family, which was applied to (308) male and female university students in the first and fourth stages. The research concluded that University students suffer from family negligence. The research sample has an addiction to the Internet. There is a relationship between family neglect and addiction to the Internet among university students. The researcher came out with a number of suggestions and recommendations.

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Publication Date
Sun Jan 04 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Dental anomalies associated with malocclusion among 13 year old Kurdish students
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Background: The aim of this national oral health survey was to determine the prevalence of malocclusions due to some anomalies in the dentition among the 13 years old Kurdish students in sulaimani intermediate school. Materials and methods: The total sample was 950 (455 males and 495 females) which assessed by diagnostic set and special instrument. The clinical examination was mainly based on the definitions of Björk et al. Some variables were recorded as present or absent sometimes denoting the tooth or the teeth involved in malocclusion and their distribution according to the whole sample. Results: The results showed that 1)The most common extracted tooth was the mandibular first molar (2.9%). 2) At this age group the most common partial

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Publication Date
Mon Oct 06 2014
Journal Name
Journal Of Educational And Psychological Researches
Physical Growth Retardation Among Kindergartens And Its Relation With Some Variables
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    Which children infected with physical growth retardation at childhood it will be the largest problems effecting the child and his parents together. So , at the period of early childhood, there must be a state of satisfactions of need because if they didn’t satisfied it will be very hard to be satisfied or replaced at another period because it will be busy with satisfaction of another need of new period, and even it will be satisfactions it still weak and didn’t be am efficient as the matter of if it be satisfied at the exact time      Looking at physical growth and its indicators as length and weight and making a comparison with world indicators at peer  age phases helps in spe

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Publication Date
Thu Nov 28 2024
Journal Name
Journal Of Emergency Medicine, Trauma And Acute Care
Psychological and sexual problems among women with hysterectomy at Baghdad City
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Hysterectomy is one of the most common gynecological operations done worldwide. Early diagnosis of the psychosexual effects of a hysterectomy and the fast application of appropriate treatment can prevent further worsening and persistence of symptoms, especially with respect to higher levels of anxiety, depression, lower self-esteem, and sexual impact after a hysterectomy. The aim of this study was to assess the psychological and sexual problems of women with hysterectomy. A descriptive study was carried out from March 1, 2023 to May 25, 2023 to determine the level of psychosexual problems experienced by women after hysterectomy. A purposive (non-probability) sample of 120 women who visited the outpatient clinic at Baghdad Teaching H

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Publication Date
Sat Jul 20 2024
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
FABP and Some Related Diabetic Parameters Among Adolescents with Toxoplasma gondii
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Recently, it has been revealed that Toxoplasmosis may be associated with some factors related to type 2 diabetes, such as glucose, insulin, the Homeostatic Model Assessment for Insulin Resistant (HOMA-IR), and Fatty acid binding protein (FABP). Therefore, the current study aimed to specify how Toxoplasma gondii (T.gondii) infection affects glucose, insulin, HOMA-IR, and FABP among adolescents. From October to December 2022, this study was carried out at Al Madain Hospital in Baghdad. For a group of adolescents visiting the hospital, an ELISA test was performed to check their anti-T.gondii antibodies. Ninety adolescents were selected to participate in the study on the basis of this examination. They were divided into two groups: those who te

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Publication Date
Sun Jan 04 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Hard palate bone density and thickness determination using CT scan and their relationships with body compositions measured by bioelectrical impedance analysis for Iraqi adult sample
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Background: This study was conducted to evaluate the hard palate bone density and thickness during 3rd and 4th decades and their relationships with body mass index (BMI) and compositions, to allow more accurate mini-implant placement. Materials and method: Computed tomographic (CT) images were obtained for 60 patients (30 males and 30 females) with age range 20-39 years. The hard palate bone density and thickness were measured at 20 sites at the intersection of five anterioposterior and four mediolateral reference lines with 6 and 3 mm intervals from incisive foramen and mid-palatal suture respectively. Diagnostic scale operates according to the bioelectric impedance analysis principle was used to measure body weight; percentages of body fa

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Publication Date
Thu Nov 01 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Postoperative Follow-up for Patients with Recurrent Kidney Stone
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Abstract Kidney stones are one of the most common and most painful medical problems known (1). Nurses assess and monitor patients through diagnosis and treatment and teach patients how to avoid recurrence of stones (2). A descriptive study was conducted on 150 patients diagnosed with recurrent kidney stones, who were attending the out patients consultation urology disease clinics at surgical specialties, Al-Kadhimia, Al-Yarmook, and Al-Karama Teaching Hospital and Extracorporeal shock wave lithotripsy (ESWL) departments for the period from the 1st of Feb. 2002 through to the end of May 2004. The aim of

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Publication Date
Sun Mar 01 2015
Journal Name
Baghdad Science Journal
Assessment of Serum Prolactin Level in Patients Women with Rheumatoid Arthritis
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The prolactin hormone played role in the many autoimmune disorders. To determine the importance of high levels of prolactin in triggering rheumatoid arthritis, thirty patient's women with hyperprolactinemia aged (20-45) years old have been investigated and compared with twenty five healthy individuals. All the studied groups were carried out to measure the concentration of citrulinated peptide(CCP) by enzyme linked immunosorbent assay( ELISA), antikeratin antibodies (AKA)and antinuclear antibodies(ANA) by indirect fluorescent assay IFAT. There was a significant elevation of CCP concentration compared with control groups (P< 0.05). The percentage of antikeratin antibodies and antinuclear antibodies was (20%, 10%) respectively, and

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Publication Date
Sun Sep 07 2008
Journal Name
Baghdad Science Journal
A Study of some biochemical parameters in patients with &#61538;- thalassemia
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Serum levels of iron,copper,ceruloplasmin and transferrine were estimated in three groups of patients with ?- thalassemia: 24 patients have splenectomy thalassemia major, 29 patients have non splenectomy thalassemia major and 19 patients have thalassemia intermedia , data were compared to normal and pathological controls (anemia and minor). There were significant increase in trace element levels in all studied groups of pateints as compared to normal and pathological controls. Also there were a significant increase in ceruloplasmin levels,While the result revealed that there were a significant decrease in transferrine levels in all groups of patients studied as compared to normal and pathological controls. The result also indicate that the

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Publication Date
Wed Sep 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Prevalence of Bacterial Species Associated With Infants Meningitis Patients in Iraq
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