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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
Fri Mar 12 2021
Journal Name
Medico Legal Update
Human Cytomegalovirus Infection as a Risk Factor for Type 2 Diabetes Mellitus Development in a Sample of Iraqi Patients
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Type 2 diabetes mellitus which abbreviate as T2DM is a complex endocrine and metabolic disorder arisingfrom genetic and environmental factors interaction which in turn induce various degrees of insulin functionalalteration on peripheral tissues. Globally, T2DM has develop into a public health problem. Therefore, Thestudy included (75) patients(37 female and 38 males) suffering from T2DM who visit al-kadhimiya teachinghospital with age range 20-80 years and (70) as healthy controls with age range 20-70 years. All studiedgroups were evaluated CMV IgG by ELISA,B. urea, S. Creatinine, cholesterol and triglyceride the resultsshowed that B.urea, S.creatinine and serum cholesterol showed a non-significant differences between studiedgroup,

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Publication Date
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For Cell Biology
Evaluation of Nesfatin – 1 and Other Biochemical Markers in diabetic Neuropathy Iraqi patients before and after treatment with tegretol
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Diabetic neuropathy is a form of nerve damage that can occur in people who have diabetes. High blood sugar (glucose) induced nerve damage in every part of the body. The nerves in the legs and feet were the most frequently affected. The extent to which a diabetic patient's body is impaired is calculated by the degree of nervosa harm.The purpose of this present study is estimation BMI,IL-10 , nesfatin-1 and HS-CRP in Iraqi DN patients before and after treatment via tegretol as well as it is the first study sheds light on the relationship between Nesfatin -1 and other parameters ( BMI,IL-10 and HS-CRP) also predication of Nesfatin-1 as a newly biomarker in patients with diabetic neuropathy. The present study consist of from 30 cohort G1 as hea

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Publication Date
Sun Feb 14 2021
Journal Name
Biochemical And Cellular Archives
A RETROSPECTIVE STUDY TO EVALUATE SOME POTENTIAL RISK INDICATORS ON OSSEOINTEGRATED DENTAL IMPLANTS IN A SAMPLE OF IRAQI PATIENTS
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Determining risk indicators for dental implants is an essential strategy for preventing peri-implant diseases and effective diagnosis of dental implant success. To investigate the impact of certain potential factors on the osseointegrated dental implant. Eighty-four individuals were included in our study, 50 cases as a patient’s group and 34 participants as a control group. All cases were diagnosed based on certain criteria, 30 (60%) of patients had peri-implantitis, 20 (40%) with severe periimplantitis, 36(72%) were generalized, and 15 (30%) as localized peri-implantitis cases. The study has indicated that 44.7% of dental implants were in the anterior maxilla, followed by (27.3%) posterior maxilla, (17.4%) posterior mandible, and (10.4%)

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Publication Date
Thu Apr 20 2023
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation of Adiponectin, Irisin, Vitamin D Levels and Their Relation in Iraqi Patients with Non alcoholic Fatty Liver Disease
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Non-alcoholic fatty liver disease (NAFLD) is one of chronic liver and defines by fat accumulation ≥5% in liver which can progresses to non-alcoholic steatohepatitis (NASH). NAFLD related to obesity as well as non obese individuals. Adiponectin is a cytokine secreted from adipose tissue involved NAFLD pathogenesis and liked with obesity. Irisin is a myokine, has a convenient effect against metabolic diseases such as obesity, disylipemia diabetes type 2 and reversed liver steatosis and may be related with NAFLD.  Vitamin D is one of the fat soluble vitamins and more precisely as a pro-hormone through its metabolite (1,25(OH)2 cholecalciferol) the major steroid hormone. After the skin exposure to the light, vitamin D undergoes to

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Insulin Like Growth Factor Binding Protein 7 as a Novel Diagnostic Marker in Sera of Iraqi Patients with Acromegaly
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The purpose of this study was to measure serum levels of insulin-like growth factor-binding protein (IGFBP7), Insulin-like Growth Factor 1 (IGF-1), Growth Hormone (GH), Interleukin 6 (IL-6) and insulin in acromegaly patients and healthy controls. The acromegaly group had 60 patients, while the population group had 30 people who had never had acromegaly before. The concentration of IGFBP7, IGF-1, GH, IL-6, and insulin were determined. The results of the present study indicate that IGFBP7 level in the acromegaly group was significantly lower (1.690.07 ng/mL vs. 2.740.12 ng/mL, respectively, p = 0.001). IGF-1, GH, IL-6, and insulin concentrations were also significantly higher in acromegaly patients. The diagnostic accuracy (2.194) was exce

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Publication Date
Wed Dec 30 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Association of Retinol Binding Protein- 4 (RBP4) with Glycemia, Dyslipidemia, Hypertension, and Obesity in Type 2 Diabetic Iraqi Patients
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Abstract:

Background: Retinol binding protein 4 (RBP4), an adipokine that participate in a lipid metabolism or insulin resistance through a complex regulatory network. Recently, RBP4 was reported to be associated with many cardiovascular diseases (CVDs) risk factors in patients of type 2 diabetes mellitus (T2DM). This study aims to study the correlation of  serum RBP4 with some markers of glycemic control, dyslipidemia, hypertension and obesity in T2DM Iraqi patients.

Subjects and Methods: one hundred fifty participants were enrolled in this coss-sectional study, 120 of participants were T2DM patients and 30 were apparently healthy individuals to serve as control gro

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Publication Date
Tue Jan 01 2019
Journal Name
Asian Journal Of Chemistry
Oxidative Stress Status in Sera and Saliva of Type 2 Diabetic Iraqi Patients with and without Proliferative Diabetic Retinopathy
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The present study aimed to look for the differences in the oxidative stress status in sera and saliva samples of type 2 diabetic Iraqi patients with and without proliferative diabetic retinopathy. As well as to look for the possibility whether this status can be measured in saliva as an alternative sample to that of serum, hence to achieve that total oxidant status, total antioxidant status and oxidative stress index were measured in both sera and saliva samples of two groups of patients with type 2 diabetes mellitus and the healthy individuals. Upon the comparison between patients without proliferative diabetic retinopathy and the control sample the results showed presence of a significant increase (p < 0.05) of total oxidant st

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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation the Risk Factors that are Associated with Osteoporosis in Post Kidney Transplantation in a Sample of Iraqi Patients
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Renal transplantation is a principal treatment option for end-stage kidney failure. Bone loss and fracture are serious complication of kidney transplantation, associated with morbidity and mortality. The pathogenesis of post transplantation bone loss is multifactorial and complex

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Determination of hepcidin (25) level in hemodialysis Iraqi male patients and its relation with erythropoietin and some biochemical parameters
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Background: Anemia is a common finding in patients with renal failure disease and it is, primarily, due to reduced production of iron and erythropoietin. Therefore, the aim of current study was to evaluate the relationship between serum level of hepcidin 25, on the one hand, and levels of serum iron, total iron-binding capacity, serum erythropoietin and transferrin saturation% in Iraqi male patients undrgoning haemodialysis.. Methods: Serum from75 males in the end stage of hemodialysis, as group one, and 25 Iraqi healthy malecontrols, as group two, were recruited in this study. Results: Data from current study showed significant increase in hepcidin 25 and significant decrease in serum iron, total iron-binding capacity, transferrin saturati

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Detection the level of YKL-40 biochemical marker and vitamin D level in sera of Iraqi Uterine cancer females' patients
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Objective: Detection the level of YKL-40 biochemical marker and vitamin D level in sera of Iraqi uterine cancer
females' patients.
Methodology: This study included 90 female volunteers, 30 of them were healthy volunteers who were
considered as a control group, while sixty serum samples were collected from women patients suffering from
uterine tumors (30 malignant and 30 fibroid benign tumors), benign cases were considered as a disease
control group for malignant tumors. The average age of those females was 30-75 years, which matched the
control group. All the samples were collected from Azady hospital in Kirkuk and the gynecologic department at
Medical City in Baghdad during October /2012 to May /2013. All the serum

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