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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 Aug 11 2024
Journal Name
Irish Journal Of Medical Science (1971 -)
Serum fibulin-3 as a diagnostic and prognostic biomarker in patients with knee osteoarthritis
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Background Osteoarthritis is a chronic degenerative disorder with rising prevalence. Early detection of structural damage is difficult. Consequently, there is a pressing demand for reliable biomarkers that enable an earlier diagnosis of osteoarthritis. The aim is to investigate the level of serum fibulin-3 in patients with primary knee osteoarthritis and its correlation with disease severity. Subjects and methods A case–control study was conducted at the Baqubah Teaching Hospital from November 2023 to January 2024. One hundred twenty persons participated in this study (eighty females with the diagnosis of knee osteoarthritis in its early and late stages, and forty age-matched, apparently healthy control. Serum fibulin-3, ESR, CRP, and cal

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Publication Date
Fri Mar 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Comparison between diode laser and scalpel for lip lengthening in patients with gummy smile
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Background: lip lengthening procedure is one of the surgical options for the correction of gummy smile in patients with short upper lip. Methods: A comparative clinical study was conducted on 15 patients requiring lip lengthening procedure for the esthetic correction of excessive gingival exposure with gummy smile. Scalpel was used in seven patients and diode laser in the remaining eight patients. Under infiltration anesthesia, about one cm strip of mucosa was excised at the vestibular depth and the mucosa of the lip was sutured to the alveolar mucosa. Results: The diode laser group demonstrated less postoperative pain and swelling. Regarding postoperative ecchymosis, three patients in the scalpel group developed ecchymosis and no cases

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Publication Date
Tue Jan 01 2019
Journal Name
Diabetes & Metabolic Syndrome: Clinical Research & Reviews
Nephrotic range proteinuria; does it predict lung involvement in patients with type 2 diabetes
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Publication Date
Tue Jan 01 2019
Journal Name
Diabetes & Metabolic Syndrome: Clinical Research & Reviews
Nephrotic range proteinuria; does it predict lung involvement in patients with type 2 diabetes
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Publication Date
Thu Aug 22 2013
Journal Name
International Journal Of Dermatology
Skin tumors and skin infections in kidney transplant recipients vs. patients with pemphigus vulgaris
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Abstract<sec><title>Background

Pemphigus vulgaris is an autoimmune disease of the skin and mucous membrane. Renal transplantation is a common procedure in Iraq, and these patients required prolonged use of immunosuppressive drugs.

Objective

To study the frequency of skin tumors and infections in patients with pemphigus vulgaris compared with renal transplant recipients and normal controls.

Patients and methods

One hundred kidney transplant recipients, their ages ranged from 14 to 70 (46.65 ± 4.74) years

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Publication Date
Sun Dec 09 2018
Journal Name
Baghdad Science Journal
Application of Randomly Amplified Polymorphic DNA (RAPD) Technique to Estimate Genetic Distance among Some Methicillin Resistant Staphylococcus aureus Isolated from Different Iraqi Hospitals
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Methicillin resistant Staphylococcus aureus (MRSA) is one of the principal nosocomial causative agents. This bacterium has the capability to resist wide range of antibiotics and it is responsible for many diseases like skin, nose and wounds infection. In this study, randomly amplified polymorphic DNA (RAPD)-PCR was applied with ten random primers to examine the molecular diversity among methicillin resistant Staphylococcus aureus (MRSA) isolates in the hospitals and to investigate the genetic distance between them. 90 Isolates were collected from clinical specimens from Iraqi hospitals for a total of 90 isolates. Only 10 strains (11.11%) were found to be MRSA. From these 10 primers, only 9 gave clear amplification products. 91 fragment l

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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
Skills and Standards of Selection and Use of Assistive Technology among Saudi Teachers of Students with Intellectual and Developmental Disabilities
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The purpose of the current study was to explore the standards that teachers take into consideration when selecting and using assistive technology (AT), in addition to their knowledge and skills in this area. A quantitative, descriptive survey design was used and a convenience sample of 79 teachers of students with intellectual disabilities and autism spectrum disorder (ASD) participated in the current study. Based on the four main areas of the SETT Framework—student, environment, tasks, and tools—, teachers reported a lack consideration for most of the standards in each area. Among other findings, statistically significant differences were found between teachers’ standards of the SETT Framework, with teachers who had previous profe

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Publication Date
Thu Dec 31 2020
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
EVALUATING THE QUALITY OF IMPORTED AND LOCAL FLOUR IN TERMS OF QUALITY WITH IRON AND FOLIC ACID AND ITS COMPLIANCE WITH IRAQI STANDARD: EVALUATING THE QUALITY OF IMPORTED AND LOCAL FLOUR IN TERMS OF QUALITY WITH IRON AND FOLIC ACID AND ITS COMPLIANCE WITH IRAQI STANDARD
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Food fortification has an important and necessary role in compensating for the shortage of nutritional micronutrients, especially in developing and least developed countries. So, 12 samples of flour available in the local market, whether imported or locally produced flour, were obtained during 2019. The amount of base metal of the necessary iron element in the flour models studied which are available in local markets, measured by spot testing and was compared with the values ​​that should be added according to the specification Iraqi standard. Results revealed the qualitative evaluation of iron in locally produced flour does not conform to the Iraqi standard and is almost free of any reinforcement. While the percentage of imp

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Publication Date
Sun Dec 04 2016
Journal Name
Baghdad Science Journal
Transition Metal Complexes with Tridentate Ligand: Preparation, Spectroscopic Characterization, Thermal Analysis and Structural Studies
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New series of metal ions complexes have been prepared from the new ligand 1,5- Dimethyl-4- (5-oxohexan-2- ylideneamino) -2-phenyl- 1H-pyrazol-3 (2H)-one derived from 2,5-hexandione and 4-aminophenazone. Then, its V(IV), Ni(II), Cu(II), Pd(II), Re(V) and Pt(IV) complexes prepared. The compounds have been characterized by FT-IR, UV-Vis, mass and 1H and 13C-NMR spectra, TGA curve, magnetic moment, elemental microanalyses (C.H.N.O.), chloride containing, Atomic absorption and molar conductance. Hyper Chem-8 program has been used to predict structural geometries of compounds in gas phase, the heat of formation, (binding, total and electronic energy) and dipole moment at 298 K.

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Publication Date
Sun Jan 01 2017
Journal Name
Statistical Applications In Genetics And Molecular Biology
Mixture model-based association analysis with case-control data in genome wide association studies
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Abstract<p>Multilocus haplotype analysis of candidate variants with genome wide association studies (GWAS) data may provide evidence of association with disease, even when the individual loci themselves do not. Unfortunately, when a large number of candidate variants are investigated, identifying risk haplotypes can be very difficult. To meet the challenge, a number of approaches have been put forward in recent years. However, most of them are not directly linked to the disease-penetrances of haplotypes and thus may not be efficient. To fill this gap, we propose a mixture model-based approach for detecting risk haplotypes. Under the mixture model, haplotypes are clustered directly according to their estimated d</p> ... Show More
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