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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Tue Dec 31 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of Human β-defensin-3 Diagnostic Role in a Group of Iraqi Patients with Osteoporosis
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Background: Osteoporosis (OP) is a prevalent age-related condition that increases the risk of fracture and bone fragility, as result loss of bone mass as well as micro-architectural degradation of the bone, thereby reducing the mass and strength of bone. Human β-defensin (HBD-3) is ananti-inflammatory peptide andcrucial part of the human innate immune system. Giving early therapeutic intervention for OP requires an early diagnosis. Objectives: To evaluate the serum HBD-3 accuracy of diagnosis in patients with osteoporosis. Methods: The study was conducted in the National Joint Center at Yarmouk Teaching Hospital in Baghdad during September - October 2023. Eighty participants were recruited, all of whom had clinical examinations an

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Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Estimation of Testosterone, Estradiol and some Markers in Sera of Iraqi Patients with Benign Prostatic Hyperplasia.
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Benign prostatic hyperplasia (BPH) is one of the most common disease and major cause of morbidity in elderly men which may lead to bladder outflow obstruction and lower urinary tract symptoms (LUTS). Although sex steroid hormones play fundamental roles in prostate growth, their clinical significance is not completely clear. In the present study we assessed whether serum hormones levels as markers of prostate disease. This study includes (40) patients with benign prostatic hypertrophy and (40) control group with age rang (41-79) and (42-71) years respectively. The following biochemical investigations have been studied: Testosterone, Estradiol (E2), and Prostatic Specific Antigen (PSA) levels using ELISA method which correlated with t

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Publication Date
Mon May 09 2022
Journal Name
Biochemical And Cellular Archieve
INFLUENCE OF HUMAN LEUKOCYTE ANTIGEN HLA-DRB1 ON SUSCEPTIBILITY TO GIARDIA LAMBLIA INFECTION OF IRAQI PATIENTS
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Giardia lamblia is the worldwide most common intestinal protozoan parasite. It was indicated that Giardia is the most important agent that causes acute and chronic diarrhea in infants, young children and travelers. The aim was to detect the influence of host HLA alleles on the susceptibility to infection with G. lamblia in a sample of Iraqi patients. A total of (40) patients with giardiasis aged (14-39) years were registered. All of them were symptomatic and (40) healthy individuals matched age and sexes were included as controls. All patients were prepared to stool examination to detect G. lamblia and eliminated other pathogens, as well as human leukocyte antigen (HLA) class II alleles (DRB1) typing. The most common detected alleles in pat

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Publication Date
Thu May 05 2022
Journal Name
Al-kindy College Medical Journal
Evaluation of podophyllin and Trichloroacetic acid for the treatment of genital warts in Iraqi female patients
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Background: human paillomavirus infections (genital warts) are the most frequent sexually transmitted viral infections. a wide range of treatment options is available with different efficacy.

Objective: To evaluate the efficacy of podophyllin, trichloracetic acid (TCA) in the treatment of genital warts and side effects of them.

Subjects and methods: a total of sixty patients with genital warts were randomly selected, 30 in each group, in the Department of Dermatology, medical city for a Duration of 11 months from January 2009 to December 2009 treated with 35 % podophyllin in the tincture of benzoin or 50%  TCA) .Forty-eight patients were followed up for three months.

Results: wart

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Publication Date
Mon Jun 30 2003
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Study of the Drying of Ethanol using Zeolite Molecular Sieves
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Publication Date
Tue Jan 03 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Knowledge, Attitudes, and Perceptions about COVID-19 and its Vaccine among Patients with Rheumatoid Arthritis: A Qualitative Study
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Background: Despite the importance of vaccines in preventing COVID-19, the willingness to receive COVID-19 vaccines is lower among RA patients than in the general population. Objective: To determine the extent of COVID-19 knowledge among RA patients and their attitudes and perceptions of COVID-19 vaccines. Methods: A qualitative study with a phenomenology approach was performed through face-to-face, individual-based, semi-structured interviews in the Baghdad Teaching Hospital, Baghdad, Iraq, rheumatology unit. A convenient sample of RA patients using disease-modifying anti-rheumatic drugs was included until the point of saturation. A thematic content analysis approach was used to analyze the obtained data. Results: Twenty-five RA pa

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Publication Date
Tue Sep 05 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Protective Health Behaviors among Critical Care Nurses Concerning Pressure Ulcer Prevention for Hospitalized Patients at Baghdad Teaching Hospitals
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Background: Pressure ulcers remain a serious complication for immobile patients and a burden for healthcare professionals. Objectives: To assess health behavior prevention among critical care nurses regarding pressure ulcer prevention for hospitalized patients and to find out the relationship between critical care nurses health behavior prevention and sociodemographic variables. Methods: A cross-sectional design study was carried out in critical care units at three teaching hospitals. The study period extended from November 1, 2022, to January 28, 2023. Non-probability purposive sampling, whose target population was 100 nurses who work in critical care units in Baghdad, Iraq. The data were collected using a self-administered questio

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Publication Date
Sun Dec 01 2019
Journal Name
Gene Reports
Hepatitis B virus genotypes among chronic hepatitis B patients from Baghdad, Iraq and their impact on liver function
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Hepatitis B virus (HBV) infection is a significant global health problem. Populations of different ethnicities show great heterogeneity in HBV genotype frequency distributions. A cross-sectional study was conducted during June–October 2018 to determine frequency of HBV genotypes among chronic HBV patients from Baghdad, Iraq. The method of detection was nested polymerase chain reaction system. Further, the study assessed the impact of HBV genotypes on serum level of liver-function tests: total serum bilirubin, alkaline phosphatase, alanine aminotransferase and aspartate aminotransferase. Eighty chronic HBV patients were enrolled in the study. Six HBV genotypes were identified (A, B, C, D, E and F). The most frequently encountered genotypes

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Publication Date
Fri Jun 05 2026
Journal Name
Journal Of Baghdad College Of Dentistry
The relation of salivary glucose with dental caries and Mutans Streptococci among type1 diabetic mellitus patients aged 18-22 years
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Background: Diabetic is a chronic systemic disorder of glucose metabolism. That could be diagnosed using fasting and/or random plasma glucose and Glycated Haemoglobin (HbA1c). Several biochemical and microbial alterations of saliva could affect dental caries occurrence and severity among diabetic patients. The aim of the present study was to assess the relation of salivary glucose with severity of dental caries and Mutans Streptococci, among uncontrolled and controlled diabetic groups in comparison with non-diabetic control group. Materials and Methods: The total sample composed of adults aged (18-22) years. Divided into 25 uncontrolled diabetic patients (HbA1c > 7), 25 controlled diabetic patients (HbA1c ≤ 7), in addition to 25 no

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Publication Date
Fri Feb 01 2019
Journal Name
International Journal Of Biology, Pharmacy And Allied Sciences
PREVALENCE OF HEPATITIS B AND C VIRUS INFECTION AMONG PATIENTS WITH VON- WILL BRAND DISEASE AT MEDICAL CITY / BAGHDAD 2018
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ABSTRACT Background: Viral hepatitis places a heavy burden on the health care. Large number of patient with bleeding disorders has chronic hepatitis C infection, while few are chronic carriers of hepatitis B virus. Aims of study: evaluate the prevalence of HBV, HCV infection among patient with Von Willebrand disease and to find factors that associated with the chance of getting the infection.