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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
Sun Sep 07 2008
Journal Name
Baghdad Science Journal
A Study of some biochemical parameters in patients with &#61538;- thalassemia
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Serum levels of iron,copper,ceruloplasmin and transferrine were estimated in three groups of patients with ?- thalassemia: 24 patients have splenectomy thalassemia major, 29 patients have non splenectomy thalassemia major and 19 patients have thalassemia intermedia , data were compared to normal and pathological controls (anemia and minor). There were significant increase in trace element levels in all studied groups of pateints as compared to normal and pathological controls. Also there were a significant increase in ceruloplasmin levels,While the result revealed that there were a significant decrease in transferrine levels in all groups of patients studied as compared to normal and pathological controls. The result also indicate that the

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Publication Date
Thu Nov 01 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Life – Style of patients with peptic ulcer A case control study
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Abstract A descriptive (retrospective) (a case-control) study was carried out at Al-Karama Teaching Hospital, Baghdad Teaching Hospital and Surgical Specialties Hospital, and Gastro-Intestinal Tract and Liver (GIT) Hospital for the period of December 1st, 2001 To March 15th 2002. To identify aspects of life-style that may contribute to the occurrence of peptic ulcer (P.U)as risk factors. And to find out the relationship between the demographic characteristic of the group. Non-probability (Purposive) sample of (100) cases who were admitted to the endoscopy department who were later on diagnosed as having

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Quality of Life in Schizophrenic Patients: The Relationship with Personal Characteristics
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Objectives: The study aims to identify the quality of life level in schizophrenic patients and to find out the
relationships between the quality of life and some of personal characteristics for those patients with
schizophrenia.
Methodology: A descriptive correlation analytic design was used by using the assessment technique on sample
of 100 schizophrenic outpatients, who were selected purposively (non-probability sample) during the period
10/ 3/2013 - 1/ 12 /2013. The study was conducted on the schizophrenic patients in an out patient psychiatric
clinics at Ibn-Rushd; and Al-Rashad Psychiatric Teaching Hospital; Baghdad Teaching Hospital, and Al-Kadhimya
Teaching Hospital. Self administrative questionnaire was used

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Publication Date
Thu Nov 01 2012
Journal Name
The Iraqi Postgraduate Medical Journal
Isolation and identification of Malassezia species in patients with pityriasis versicolor
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JM Karhoot, AA Noaimi, WF Ahmad, The Iraqi Postgraduate Medical Journal, 2012 - Cited by 7

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Measurements of HbA1c for Patients with Diabetes Mellitus and Foot Ulceration
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People with diabetes can develop different foot problems. In the blood stream glucose reacts with hemoglobin to make a glycosylated hemoglobin molecule called hemoglobin A1c or HbA1c, the more glucose in the blood the more hemoglobin A1c will be present in the blood. The HbAlc test is currently one of the best ways to check diabetes to be under control.  The aim of study is to compare between the blood investigations which includes the fasting blood sugar and HbAlC (glycosylated hemoglobin), and to evaluate the benefit of  HbAlc (measurement for diabetic patients with foot ulcer,  to be a good indicator for controlling blood glucose). Sixty patients with type2 diabetes mellitus from the outpatient clinic of Baghdad Teachin

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Publication Date
Wed Sep 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Prevalence of Bacterial Species Associated With Infants Meningitis Patients in Iraq
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Publication Date
Tue Sep 10 2024
Journal Name
Iraoi Academic Scientific Journals
The Psychological and Physical Life Difficulties of Patients with nerve fascicle
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Publication Date
Sun Sep 01 2013
Journal Name
Baghdad Science Journal
Assessment of Salivary and Serum Proteins in Patients with Oral Tumors
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The qualified subjects for this study included 33 patients with benign and malignant oral tumors aged 15-75 years and 31 matched age and gender healthy subjects used as control. Proteins measurements included total protein, albumin, globulines in sera and saliva samples, and immunoglobulins (IgG, IgM, IgA) in sera samples of control and patients. Meanwhile, polyacrylamide gel electrophoresis (PAGE) was used to differentiate between protein patterns in both serum and saliva samples among the studied groups. The gel was also stained for glycoprotein to evaluate as well the changes in glycoprotein contents. For total protein, the results revealed a signifigant increase (P?0.01) in both samples (serum and saliva) of patient group. Albumin conce

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Publication Date
Fri Nov 02 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Bio-social Aspect with Cholelithiasis Patients in Baghdad City
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Objective: To find out the relationship between the bio-social aspect with cholelithiasis patients and
demographic characteristics in Baghdad city.
Methodology: A purposive (non-probability) sample of (100) patients, from (20-70) years old, who were
selected from patients who were admitted to hospital at preoperative stage, from Gastroenterology and
Hepatology Hospital, Baghdad Teaching Hospital, Al-Yarmook Teaching Hospital, Al-Karama Teaching
Hospital, Teaching Hospital. A descriptive study was carried out from 25th of June 2004 to the end of October
2004.
An assessment form was constructed for the purpose of the study. Test-retest reliability was employed through
computation of Pearson correlation coefficient.

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Publication Date
Sun Apr 02 2023
Journal Name
Journal Of Survey In Fisheries Sciences
Evaluation of the Serum Asprosin Levels in Patients with Double Diabetes
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Background : Double diabetes (DD) is the term used to describe situations in which a patient exhibits characteristics that are a combination of type 1 diabetes mellitus(T1DM) and type 2 Diabetes Mellitus (T2DM) a large epidemiological study found that 25.5% of people with T1D also had the metabolic syndrome. A new protein hormone called asprosin is predominantly released by white adipose tissue. It was initially discovered in 2016 . Asprosin is important diagnoses marker for insulin resistant in diabetes patients ,additionally is very important denotation about early diagnoses of type 2 diabetes. Objectives: The current study aims to find predictive significance of diagnosis a double diabetes by evaluating the asprosin in the blood serum of

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