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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
Sat Nov 30 2024
Journal Name
The Journal Of Infection In Developing Countries
Hematological profile among cutaneous leishmaniasis patients before and after treatment with sodium stibogluconate in Diyala, Iraq
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Introduction: Cutaneous leishmaniasis (CL) is a common protozoan disease in Iraq characterized by localized ulcers, primarily on exposed skin. This study aimed to investigate the hematological parameters of infected patients using a complete blood count (CBC) in the endemic area of Diyala Governorate, northeast of Baghdad. This has been studied in newly diagnosed, untreated individuals and patients receiving sodium antimony gluconate. Methodology: Hematological screening was performed on blood samples from 161 patients with microscopically diagnosed cutaneous leishmaniasis before and after treatment. Anti-Leishmania IgG was also assessed by ELISA in seropositive and seronegative subjects. Results: The newly diagnosed, untreated pati

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Publication Date
Wed Mar 24 2021
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Study of Epstein - Barr virus Infection in Relation to the Immunohistochemical Expression of Bcl-2 gene in Tissues of Patients with Adenocarcinoma of the Colon
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Background: EBV infection in tissue micro-environment is challenged by the precisely regulated survivaland apoptosis mechanisms. Abnormal bcl-2 proto-oncogene expression in colonic carcinomas allowsaccumulation and propagation of these genetically altered cells.Objective: To analyze the relevant concordance of BCL-2 gene , EBNA1 s and LMP-1-EBV expression inissues from a group of Iraqi patients with colonic adenocarcinomas.Patients and Methods: One hundred (100) tissue biopsies, belonged to (40) patients with colorectalcancers, (40) patients with benign colon tumors, and (20) apparently normal colorectal control tissues,were enrolled in this study. The detection of EBNA1 s and LMP-1-EBV as well as BCL-2 was done byimmunohistochemist

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Publication Date
Tue Mar 31 2020
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
Experimental and Theoretical Analysis of a Mono PV Cell with Five Parameters, Simulation Model Compatible with Iraqi Climate
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The present work included study of the effects of weather conditions such as solar radiation and  ambient temperature on solar panels (monocrystalline 30 Watts) via proposed mathematical model, MATLAB_Simulation was used by scripts file to create a special code to solve the mathematical model , The latter is single –diode model (Five parameter) ,Where the effect of ambient temperature and solar radiation on the output of the solar panel was studied, the Newton Raphson method was used to find the  output current of the solar panel and plot P-V ,I-V curves, the performance of the PV was determined at Standard Test Condition (STC) (1000W/m2)and a comparison between theoretical and experimental results were done .The best efficiency

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Publication Date
Wed Dec 12 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Weight Gain Post Treatment with Biological Compounds among A Sample of Patients Attending Baghdad Teaching Hospital
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Objective: to evaluate the increase in weight after biological agents and the association of weight gain with the body mass index among a sample of patients attending Baghdad Teaching Hospital Methods: A prospective study is carried out in Baghdad teaching hospital biological units and outpatient clinic of rheumatology for a period of one year starting On April 2015 and ending on March 2016. 120 patients were included in the study 40 psoriatic arthritis .40 ankylosing spondylitis and 40 rheumatoid arthritis Results : The study findings indicate that significance differences are seen regarding weight gain and b

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Publication Date
Fri Jun 07 2024
Journal Name
Medicine
Impact of TYMS gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients – identification of novel single nucleotide polymorphism: Cross-sectional study
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The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (TYMS gene in exon1 and partial regions of promotor and intron 1 [877 bp, 657,220–658,096 bp]) and the therapeutic outcomes for rheumatoid arthritis (RA) Iraqi patients. An observational cross-sectional study involving 95 RA patients with established RA patients based on their methotrexate treatment responsiveness. Genetic sequencing of the TYMS gene was performed for all patients according to the instruction manuals of the sequencing company (Macrogen Inc. Geumchen, South Korea). Four polymorphisms were identified by sequencing 95 randomly selected patients in the noncoding region of TYMS

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Publication Date
Tue Apr 01 2025
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Congenital Anomalies in Neonates: Findings from Six Baghdad Hospitals
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Background: Birth defects are the leading cause of both neonatal and post-neonatal deaths, as an estimated 240,000 neonates die in their first month of life worldwide each year. In Iraq, local studies have shown varying frequencies and types of congenital anomalies. Objectives: To provide new insight into the incidence and types of congenital anomalies and to explore their possible risk factors in Baghdad City. Methods: In this cross-sectional observational study, a total of 2007 neonates were enrolled from six hospitals in Baghdad during the period extending between September and December 2020. Hospital records and personal interviews were used for data collection. These data included the neonates' demographic and clinical characte

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Free Fatty Acids and Biochemical Changes in Iraqi patients with Chronic Renal Failure
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Chronic renal failure (CRF) is progressive irreversible destruction of kidney tissue by disease which, if not treated by dialysis or transplant, will result in patient's death. This study was carried out on 30 patients (17 male and 13 female) with chronic renal failure. The aim of this research was studied the changes in the level of total protein ,albumin, calcium ,ionized calcium, phosphorous , iron ,ALP, LDH ,CK and FFA in patients with CRF before and after hemodialysis .The obtained results have been compared with 30 healthy subjects as control group (18male and 12 female). The results showed that there was significant increase in the level of calcium ,ionized calcium, phosphorous ,iron ,ALP,LDH,CK and FFA ,while there was a signifi

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Publication Date
Wed May 10 2023
Journal Name
Dermatology Research And Practice
Interleukin-15 and Tumor Necrosis Factor-α in Iraqi Patients with Alopecia Areata
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Background. Alopecia areata (AA) is a common form of noncicatricial hair loss of unknown cause, affecting 0.1-0.2% of the general population. Most evidence supports the hypothesis that it is disease of the hair follicle of autoimmune nature mediated by T-cells, with important cytokine role. Objective of the Study. The objective of this study is to study the association and changes in serum levels of interleukin-15 (IL-15) and tumor necrosis factor-α (TNF-α) in patients with AA in relation to the type, activity, and disease duration. Patients and Methods. Thirty-eight patients with AA and 22 individuals without the disease as controls were enrolled in this case-controlled study conducted in the Department of Dermatology in the Al-K

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Publication Date
Tue Jan 02 2018
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Serological markers “CEA test & sAPRIL test” in Iraqi patients with colon cancer
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Background: Colonic cancer is a very common disease world-wide being fourth most common cancer characterized by abnormal proliferation of the inner wall of colon then taking full colon wall thickness then spreading to surrounding lymph nodes and tissues and finally distant metastasis. It is one of most complicated diseases with debilitating symptoms which becomes more sever , prominent and specific with advancing stage with high percent of fatality and relatively short survival if diagnosed late or if left untreated.Objective: To evaluate the efficacy of serum CEA & sAPRIL levels in the diagnosis and screening of colon cancer and their validity for this.Patients and methods: This study was applied on 35 patients with colonic can

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Publication Date
Fri Mar 01 2024
Journal Name
Baghdad Science Journal
Evaluating the Fibroblast Growth Factor-23 and Phosphate in Iraqi Patients with Acromegaly
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Fibroblast growth factors-23 (FGF-23) are a class of cell signaling proteins produced by macrophages. They have a range of roles, but they play a particularly important role in the development of animal cells, where they are essential for appropriate growth. Phosphate, which is found in the body as both organic and mineral phosphate, plays crucial roles in cell structure, communication, and metabolism. Most phosphate in the body resides in bone, teeth, and inside cells, with less than 1% circulating in serum. The aim of the study is to evaluate the levels of the Fibroblast Growth Factors-23 and phosphate and receiver operating characteristic (ROC) in acromegaly patients against healthy control. A case control study Fibroblast Growth Fact

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