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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
Tue Nov 01 2011
Journal Name
J Clin Exp Invest Www. Clinexpinvest. Org Vol
Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
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KE Sharquie, KI Al-Hamdi, AA Noaimi, AA Al-Mohammadi, J Clin Exp Invest www. clinexpinvest. org Vol, 2011 - Cited by 1

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Publication Date
Fri Jun 30 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Nurses' Knowledge About Chest Physiotherapy Techniques for Patients With Corona Virus Disease
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Abstract

Objective(s): A descriptive study aimed to determine nurses' knowledge about chest physiotherapy techniques for patients with Corona virus disease and observe the relationship between nurses' knowledge and their socio-demographic characteristics.

Methodology: The study was directed in isolation units of Al- Hussein teaching hospitals in Thi-Qar, Iraq for the period from June 1st,  2022 to November 27th, 2022. Non- probability (purposively) sample comprised 41 nurses. A questionnaire was used for data collection and it consists of two parts: the first part comprises socio demographic features, the second part includes self- administered questionnaire sheet wa

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Publication Date
Mon Nov 05 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effect of Physiotherapy on the Motor Recovery and Improvement in Patients with Facial Palsy
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Objectives: The study aims to investigate the efficiency of physiotherapy methods to improve the
degree of the clinical recovery of the peripheral facial palsy.
Methodology: This study is carried out at the Rehabilitation Center-Baghdad from November 2009 till
March 2010. This study includes (40) patient, their ages are from (13) to (55) years old; (24) male and
(16) female with unilateral facial palsy of undetermined cause. House-Brackmann facial recovery
scores have been used before and after the physiotherapy treatment.
Results: The results show that the physiotherapy sessions obtained the best effect of the electrical
stimulation, exercises and massage in the treatment of facial palsy. Highly respondents in femal

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Publication Date
Fri Dec 22 2017
Journal Name
Pakistan Journal Of Biotechnology
THE ROLE OF HLA-DRB 1 ALLELE IN HYPOTHYROID PATIENTS WITH AND WITHOUT PERIODONTITIS
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Hypothyroidism is a frequent disorder in the general population, especially among women, is defined as adeficiency of thyroid activity that results from insufficient production or action of thyroid hormones leading to a totaldecrease of metabolic. Human leukocyte antigen is the most polymorphic genetic system in man. Genes of this regioninfluence susceptibility to certain diseases.Objectives: The purpose of the present study is to investigate the role of HLA-DRB1 genotyping in hypothyroidpatients with and without periodontitis. Sixty hypothyroid patients 30 of patients were with periodontitis and 30without periodontitis compare with 30 healthy subjects as control enrolled in this study. DNA was extracted fromblood samples, then HLA- genotyp

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Publication Date
Wed Nov 07 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Measuring of C-reactive protein titer in patients with acute hepatitis-C Virus infection
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Objective(s): To measure serum C-reactive protein (CRP) titer as a predictive diagnosis of acute hepatitis C virus (HCV)
infection.
Methodology: Two hundred and ten patients with acute HCV infection and 234 apparently healthy individuals as
control group were enrolled in this study in Baghdad medical city (Teaching Laboratories). The patents include
74(35.2%) females and 136 (64.8%) males with mean age (27±16.5) years. The control group includes 114 (48.7%)
females and 120 (51.3%) males with mean age (26±5.8) years. Blood samples were collected from out patients from
Alfadul in Baghdad city. Sera were separated and stored at 20 0
C. The diagnosis of acute HCV infection was based on
detection of HC Ag and anti- H

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Publication Date
Fri Jul 24 2020
Journal Name
Al-kindy College Medical Journal
Speculations of Immunotherapy in COVID-19 Patients with Practical Applications During Childhood and Pregnancy
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The rapid spread of novel coronavirus disease(COVID19) throughout the world without availablespecific treatment or vaccine necessitates alternativeoptions to contain the disease. Historically, childrenand pregnant women were considered high-riskpopulation of infectious diseases but rarely have beenspotlighted nowadays in the regular COVID-19updates, may be due to low global rates of incidence,morbidity, and mortality. However, complications didoccur in these subjects affected by COVID-19. Weaimed to explore the latest updates ofimmunotherapeutic perspectives of COVID-19patients in general population and some added detailsregarding pediatric and obstetrical practice.Immune system boosting strategy is one of therecently emerging issue

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Publication Date
Tue Aug 06 2024
Journal Name
Sumer Journal For Pure Science
The Influence of Helicobacter Pylori Infection on Cardiovascular Risk Factors in Patients with Gastritis
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Helicobacter pylori (HP) is the etiopathogenic agent of gastric and duodenal disorders ranging from gastritis to malignancy. It is also associated with many extraintestinal diseases, including cardiovascular disease and its associated risk factors. To evaluate the link between HP infection and some cardiovascular risk factors by studying the effects of HP infection on body mass index, blood pressure, and serum lipid profile among patients having gastritis with and without HP infection. A crosssectional study included 1214 patients who had gastritis diagnosed by gastroscopy examination. Those patients were in the age range of 30-65 years and they were divided according to their gender into 725 females and 489 males depending on the 1

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Publication Date
Sun Sep 03 2017
Journal Name
Baghdad Science Journal
Measurement and purification of Alanine aminotransferase (ALT) enzyme activity in patients with celiac disease
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Celiac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chr

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Publication Date
Wed Mar 18 2020
Journal Name
Baghdad Science Journal
Incidence of Toxoplasmosis in Psoriasis Patients and Possible Correlation with Tumor Necrosis Factor-α
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            Toxoplasma gondii is an opportunistic parasite in immune-compromised persons. The prevalence of toxoplasmosis in psoriasis patients is investigated. In addition, the treatment effect on psoriasis patients infected with toxoplasmosis through evaluating Tumor Necrosis Factor-α (TNF-α) cytokine levels is studied. Blood samples were collected from 130 individuals who involved 60 control samples and 70 samples with psoriasis. They attended Medical City Hospital in Baghdad province from October 2017 - February 2018. Then, the anti- T. gondii antibodies (IgM and IgG) and TNF- α in the sera were determined via the enzyme linked immune-sorbent assay. The highe

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Publication Date
Thu Jun 25 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Prevalence of Potentially Inappropriate Prescribing in Geriatric Patients with Psychiatric Disorders in Iraq
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Potentially inappropriate prescribing is the prescribing of a medication that may cause more harm than benefit, the elderly population aged 65 years or older is more prone to potentially inappropriate prescribing because of alterations in their physiology, pharmacokinetics, and pharmacodynamics as well as polypharmacy and comorbidities, Beers list is a screening tool that help doctors to detect potentially inappropriate prescribing in geriatric patients and is designed to solve this problem, the aim of this study is to measure the prevalence of potentially inappropriate prescribing among psychiatric patients using the Beers criteria as an assessment tool and find the relationship between duration of hospitalization, comorbidities and pol

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