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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
Mon Jul 01 2013
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Prevalence Of Hypothyroidism In Chronic Kidney Disease Among Sample Of Iraqi Patients.
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Background: Patients with chronic kidney disease have multiple alterations of thyroid hormone metabolism in the absence of concurrent thyroid disease. These may include elevated basal TSH values, which may transiently increase to greater than 10 mU/liter, blunted TSH response to TRH, diminished or absent TSH diurnal rhythm, altered TSH glycosylation, and impaired TSH and TRH clearance rates. In addition, serum total and free T3 and T4 values may be reduced, free rT3 levels are elevated while total values are normal, serum binding protein concentrations may be altered, and disease-specific inhibitors reduce serum T4 binding .
Objective:. To assess the prevalence of hypothyroidism and u/s abnormalities of t

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Publication Date
Fri Dec 30 2022
Journal Name
Iraqi Journal Of Science
MTHFR Gene Polymorphisms in Iraqi Kurdish Rheumatoid Arthritis Patients: Relation to Methotrexate Response and Toxicity
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     Methotrexate (MTX) is still one of the gold standard treatments for rheumatoid arthritis (RA). It shows diverse outcomes in blood level and clinical response, this was demonstrated by its relation to the genetic polymorphism in the pharmacogenetic study. This study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in relation to MTX efficacy and toxicity in Iraqi Kurdish RA patients. Sixty-four RA patients were involved in this study with an average age of 47.78 ±14.08 and female to male ratio of (8.1). Diagnosis and disease activity were confirmed. Blood analyses, including those of laboratory markers of disease activity, were done. The 28 joint disease activity score (DAS28-CRP) w

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Publication Date
Thu Nov 30 2023
Journal Name
Iraqi Journal Of Science
Molecular Analysis of Bacterial Meningitis in Suspected Cases
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      One hundred and seventy-six cases of suspected meningitis (SMN) were included in a cross-sectional study. Their ages ranged from less than 1 year to 80 years, of whom 44.3% were male. The aim was to assess bacterial meningitis (BMN) in terms of incidence and types of causative bacteria. Cerebrospinal fluid (CSF) specimens were collected and polymerase chain reaction (PCR) analysis was conducted with universal primers designed to amplify a DNA fragment (996 bp) of the 16S rRNA gene of eubacteria. Resolving PCR products in agarose-gel electrophoresis revealed that 37.5% of CSF specimens were PCR positive, while 62.5% of CSF specimens showed no band and were considered PCR-negative. Eighty percent of the latter specimens were not

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Publication Date
Sat Apr 30 2022
Journal Name
Pakistan Journal Of Medical And Health Sciences
Role of Progranulin and its Implication in Knee Osteoarthritis among Iraqi Patients
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Background: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p

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Publication Date
Thu Jun 30 2011
Journal Name
Al-kindy College Medical Journal
Results of Kidney Biopsies among Adult Iraqi Patients in a Single Center
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Background: Patients requiring renal biopsies have various glomerular diseases according to their demographic characteristics.
Objective: To study types of glomerular disease among adult Iraqi patients in a single center in Baghdad/Iraq
Material and Methods: A total of 120 native kidney biopsies were studied. All biopsies were adequate and were processed for Light Microscopy.
The age range of the study patients was 17-67 years, with a mean of 38.5 years. The mean follow up period was 28 weeks (4-52 weeks)
Indication for biopsy included: Nephrotic syndrome (N=72; 60%), Asymptomatic proteinuria (N=21; 17.5%), acute nephritic presentation (N=17; 14.16%), asymptomatic haematuria (N=10; 8.33%).
Results: Primary glomerulonephrit

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Publication Date
Fri Sep 01 2017
Journal Name
Gulf Journal Of Oncology
Clinical and Pathological Characteristics of Triple Positive Breast Cancer among Iraqi Patients
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Background: Breast cancer is the most common malignancy affecting the Iraqi population and the leading cause of cancer related mortality among Iraqi women. It has been well documented that prognosis of patients depends largely upon the hormone receptor contents and HER-2 over expression of their neoplasm. Recent studies suggest that Triple Positive (TP) tumors, bearing the three markers, tend to exhibit a relatively favorable clinical behavior in which overtreatment is not recommended. Aim: To document the different frequencies of ER/PR/HER2 breast cancer molecular subtypes focusing on the Triple Positive pattern; correlating those with the corresponding clinico-pathological characteristics among a sample of Iraqi patients diagnosed with th

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Publication Date
Thu Dec 06 2018
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Belief about Medications among Sample of Iraqi Patients with Inflammatory Bowel Disease
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 Inflammatory bowel disease includes both Crohn’s disease and ulcerative colitis, is a chronic, progressive relapsing disease of gastrointestinal tract that require long-term treatment or maintenance therapy. Taking patient’s beliefs about the prescribed medication in consideration had been shown to be an important factor that affects compliance of the patient in whom having positive beliefs is a prerequisite for better compliance. The aim of the current study was to investigate and assess beliefs about medicines among a sample of Iraqi patients with inflammatory bowel disease and to determine possible association between these beliefs and some patient-specific factors.

This study is a cross-sectional study carried out o

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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Science
Association of rs965513 Polymorphism Near FOXE1 Gene with Papillary Thyroid Carcinoma in a sample of Iraqi patients
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     Thyroid carcinoma incidence is increasing yearly and ranks second among the top ten cancers in Iraq, especially among women. The single nucleotide polymorphism (rs965513, A>C) near FOXE1 gene was found to be associated with papillary thyroid carcinoma risk in several Genome-wide association studies. Therefore, this is a case-control study aimed at identifying whether this variation is associated with the risk of papillary thyroid carcinoma in the Iraqi population. Association of rs965513 was investigated in one hundred and one papillary thyroid carcinoma Iraqi patients and one hundred and two controls using quantitative PCR-high resolution melting technique. The results of genotype and allele frequencies showe

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Publication Date
Sun Oct 03 2010
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Hepatitis G virus infection among Iraqi patients with Chronic liver diseases.
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Background: The hepatitis G virus( HGV), also called hepatitis GB virus, as a member of the Flaviviridae family distantly related to hepatitis C virus (HCV), Little is known about the frequency of HGV infection, the nature of the illness, or how to prevent it. What is known is that transfused blood containing HGV has caused some cases of hepatitis. They infect humans, but are not known to cause human disease. This virus can be transmitted efficiently by blood transfusion and by other parenteral mechanisms. Transient and long lasting infections with HGV have been documented in man.
Patients and methods: HBs Ag, Anti-HCV IgG and Anti-HGV IgG were detected by Enzyme-Linked Immunosorbent Assay (ELISA).HCV RNA

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Publication Date
Fri Jan 13 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Kidney functions and electrolyte disturbance among Iraqi patients with bladder cancer
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Background: Bladder cancer is among the most prevalent cancers worldwide, with 549,393 new cases reported in 2018. Approximately 3% of all new cancer diagnoses and 2.1% of all cancer deaths are due to urinary bladder cancer.

Objectives: This study aims to explore the efficiency of renal system functions as indicated by renal function tests and electrolyte levels among bladder cancer patients.

Methods: All patients in this case-control study were recruited from Ghazi Al-Hariri Hospital for surgical specialties in Baghdad during the period from December 2021 to June 2022. A total of 100 individuals were enrolled in this study and divided into two groups.

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