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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
Wed Jun 25 2025
Journal Name
Iraqi Journal Of Pharmaceutical Sciences
Phytochemical Analysis and Prostate Cancer Cytotoxicity of Iraqi Apium graveolens: A GC-MS Approach
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Apium graveolens has been utilized for a multitude of purposes due to its diverse pharmacological characteristics. On the other hand, little is known about how the fatty acids (saturated and unsaturated) terpenes and steroids found in Iraqi Apium graveolens affect the human cancer cells. The purpose of this study was to examine the effects of Iraqi Apium graveolens petroleum ether extract on the human prostate cancer cell line (PC3). Subsidiary extraction and phytochemical analysis by GC/MS were performed.The dry and fresh aerial parts (leaves and stem) of Apium graveolens were extracted using a Soxhlet device with 70 % ethanol, then fractionated with petroleum ether. Then Gas Chromatography System was used to identify the bioactive

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Publication Date
Sat Aug 31 2024
Journal Name
Folia Medica
Dental plaque caries related microorganism in relation to demographic factors among a group of Iraqi children
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Introduction: Streptococcus mutans and lactobacilli are most important bacteria in the pathogenesis of dental caries. Cariogenic microflora has been associated to the primary caregiver transmission and sugary diets.

Aim: This study aimed to relate S. mutans and lactobacilli in the plaque to demographic factors in Iraqi children.

Materials and methods: The study included 135 children aged 3-10 years. Samples of their dental plaque were taken from the upper second primary molars on the buccal surfaces using a clean toothpick. Each sample was stored in 1 ml of n

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Publication Date
Tue Jun 02 2026
Journal Name
Journal Of Baghdad College Of Dentistry
The Dental Caries and Some Salivary Constituents among a Group of Ten Years Iraqi Passive Smokers
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Background: Passive smoking and dental caries affect the integrity of the health of individuals and both of them affected by sociodemographic characteristics of those individuals. This research aimed to investigate the severity of dental caries in relation to salivary magnesium and zinc of stimulated whole saliva of a group of 10 years passive smokers in comparison with normal subjects. Materials and methods: the study group included 40 subjects (20boys and 20 girls), with an age of 10 years of passive smokers determined by a questionnaire. The control group included 40 normal subjects of the same gender and age of the study group. The diagnosis and recording of dental caries was measured by (D1-4MFS & d1-4mfs) index according to the criter

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Pharmaceutical Negative Results
Evaluation Of Most Common Microorganisms Associated with Ectopic Pregnancy by Real Time PCR Among Iraqi Women
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Publication Date
Thu Dec 19 2024
Journal Name
Baghdad Science Journal
Evaluation of DPP4, TNF, and Lipid Profile Levels as Early Indicators in Infertility Among Iraqi Women
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العقم هو أحد المشاكل التي تواجه النساء والرجال. تعد السمنة واضطرابات مستوى الدهون، وكذلك مقاومة الأنسولين، من عوامل الخطر التي تسبب العقم، بالإضافة إلى العوامل الأخرى ذات الصلة. تهدف هذه الدراسة إلى معرفة تأثير السمنة واختلال توازن الدهون مع دراسة علاقة كل من ثنائي الببتيديل ببتيديز-4 وعامل نخر الورم-الفا لدى النساء المصابات بالعقم مقارنة بالنساء غير المصابات به، لتحديد مدى إمكانية اعتمادها كعوامل تشخي

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Publication Date
Thu Jan 01 2026
Journal Name
Open Journal Of Medicinal Chemistry
Relationship between chronic hepatitis B virus and pathogenecitity of Celiac disease in Iraqi patients
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the association between celiac disease and viral infection

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
Sun Oct 20 2024
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
The Study of Prolidase Level and Some Biochemical Variables in Iraqi Patients with Acromegaly
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     Acromegaly is a condition that results from excessive growth hormone production by the anterior pituitary gland. Prolidase (PLD) is the only known human enzyme that can hydrolyze dipeptides with an amino acid at their C terminus. Reports indicate that PLD activity serves as a marker for oxidative stress in numerous disorders such as diabetes, diabetic neuropathy, chronic liver diseases, and osteoporosis. The current study aims to estimate the values of PLD, its correlation with the rest of the parameters, and ROC in acromegaly patients. A group of 61 patients with confirmed acromegaly were collected from the National Diabetic Center, Mustansyrriah University, and 60 control groups were analyzed in the same place for the par

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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
Mon Dec 01 2014
Journal Name
Al Mustansiriyah Journal Of Pharmaceutical Sciences
Evaluation of the Predisposing Factors for Recurrent Respiratory Tract Infections in Iraqi Pediatric Patients.
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Recurrent respiratory tract infections are responsible for about 85% of all diseases in childhood, and are associated with significant morbidity and mortality. The aim of this study is to evaluate the main causes underlying recurrent respiratory tract infections in 176 pediatric patients aged 2 month to 4 year and weight from 4 to11 kg referred to the child center hospital and Al-sader hospital prospective study.All parents were given information sheet which then analyzed and the percentage of incidence of causes were recorded, we found that higher % related to many causes; mostly related to the parent like poor family education, mother carelessness, incomplete vaccination, other related to empirical diagnosis, and short course of t

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