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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 Apr 29 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
RECURRENT OF TMPRSS2 GENETIC POLYMORPHISM AND ITS ROLE IN IRAQI PATIENTS WITH PROSTATE CANCER
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The role of transmembrane protease serine 2(TMPRSS2) in prostate carcinogenesis relies on overexpression of ETS transcription factors. The aim of this article was to investigate the association of TMPRSS2 polymorphism (rs12329760 (C\T)) with prostate cancer (PCa) in sample of Iraqi patients. One hundred and two individuals were involved in this study for the period from February – 2019 to February – 2020. The sample type was formalin fixed paraffin embedded tissue samples (FFPE), which involved  fifty-six samples of pre-diagnosed patients with prostate cancer, aged between 48 and 86 years, and forty-six samples were found to be controls (healthy group) dependent on Prostate Gland integrity, which is the same age as in a group o

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Publication Date
Thu Jun 01 2023
Journal Name
Baghdad Science Journal
Comparison Study between Adipsin Levels in Sera of Iraqi Patients with Diabetes and Neuropathy
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The current study was designed to compare some of the vital markers in the sera of diabetic and neuropathy patients via estimating Adipsin, Fasting blood Glucose(FBG), Glycated(HbA1c) hemoglobin, Homeostasis Model Assessment Index (Homa IR ), Cholesterol, High density lipoprotein (HDL), Triglycerides (T.G), Low-density, and lipoprotein (LDL), Very Low Density Lipoprotein (VLDL), in sera of Iraqi patients with diabetes and neuropathy. A total  of ninety  subjects  were divided into three groups: group I (30 diabetic with neuropathy males) and group II (30 diabetic males without neuropathy), and 30 healthy sujects were employed as control group. The results showed a significant decline in Adipsin levels (p>0.05) in neuropathy, T2DM g

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Publication Date
Thu Apr 27 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Prevalence and Demographic Characteristics of Metabolic Syndrome in Iraqi Patients with Acute Coronary Syndrome
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خلفية البحث: المتلازمة الأيضية عند المرضى العراقيين المصابين بالمتلازمة التاجية الحادة قليلا ما تمت دراستها. الأهداف: دراسة الخصائص المجتمعية-السكانية للمرضى العراقيين المصابين  بالمتلازمة الايضية مع المتلازمة التاجية الحادة. المرضى وطرق العمل:  شملت الدراسة المقطعية 150 مصابا بالمتلازمة التاجية الحادة الذين يعالجون في وحده العناية القلبية في مستشفى اليرموك التعليمي في بغداد للفترة من منتصف كانون الث

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Publication Date
Wed May 10 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Estimation of ALP, GPT and GOT Activities in Iraqi Patients Female With Breast Cancer
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To investigate the activity and role of certain enzyme markers in 30 patients female with breast cancer (non-treated, treated, and treatment with recovered).The serum activity of enzyme tumor markers (ALP, GPT and GOT) of (30) patients with breast cancer, and (7) healthy control subjects by using statistical analysis: There is significant difference higher in activity of serum enzyme tumor markers (ALP, GPT, and GOT) in all patients as compared with healthy control

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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 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 Dec 30 2016
Journal Name
Al-kindy College Medical Journal
Congenital Thrombasthenia In Children Welfare Teaching Hospital: A Descriptive Study
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Background: Thrombasthenia is an inherited genetic disorder affecting platelets, which is characterized by spontaneous muco-cutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. Objectives: The aim of this study was to assess the diagnosis and treatment of thrombasthenia in Children Welfare Teaching Hospital. Type of the study: A cross-sectional study. Methods: This descriptive study was performed on 66 patients with thrombasthenia from the first of October 2013 till the first of July 2015.The diagnosis of the disease was done by a wide spectrum of characteristics including family history, clinical manifestations, laboratory tests.. Results: The common manifestations of the disease at time of diagnosis wer

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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
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
incidence of vulvovaginal candidiasis among iraqi women
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this worl was carried oit on 50 woman they were attended to the gynecological out patinetand non albicans vared among age group

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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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