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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 Jan 02 2018
Journal Name
International Journal Of Science& Nature
HYPOTHYROIDISM IN PEDIATRIC PATIENTS: MODE OF PRESENTATION AND TREATMENT OUTCOME
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ABSTRACT The present study was conducted to determine the mode of presentation of hypothyroidism in pediatric patients and the effects of timing of diagnosis and therapy on the patient’s outcome. The study involved review and evaluation of the medical records of 41 registered patients in the Endocrine clinic of Children Welfare Teaching Hospital in Baghdad during the period from January 1991 to July 2007. Forty one patients included in this study. Twenty four (58.5%) were males and17 (41.4%) were females with a male to female ratio of 1.4:1, their age range is 40 days to12.3 years. The majority of the studied patients were infants 19(47%). The most commonly observed presenting features were growth retardation and short stature. The best t

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Patients' Satisfaction toward Nursing Care at Hemodialysis units
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Objectives: To assess patients' satisfaction to nursing care at hemodialysis units and determine the relationship
between patients' satisfaction and patients' demographic data.
Methodology: A descriptive study was carried out at hemodialysis units of Baghdad teaching hospitals from Feb.
4
th
, 2010 through Sep. 5
th, 2010. A purposive (non-probability) sample of (150) patients ta hemodialysis units ni
Baghdad teaching hospitals was selected. The data were collected through the use of constructing questionnaire
and by means of an interview technique with the patients; the questionnaire consists of two parts (1)
demographic data (2) patients' satisfaction to nursing care. The validity of the study questionnaire w

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Publication Date
Thu Nov 01 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Impact of functional disability on lifestyle for patients with arthritis
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A descriptive study, which was using an assessment approach, was conducted for the
determination of the impact of rheumatoid arthritis and osteoarthritis patient’s functional disability
upon their life style. The study was carried out at the Rheumatology and outpatients clinics of ALKarama
Teaching Hospital, Baghdad Teaching Hospital AL-Kindey Teaching Hospital and Specialized
surgeries Teaching Hospital for the period of October 15th 2003 through May 13th 2004 in Baghdad
City. A purposive (non-probability) sample of (245) arthritis patients which was comprised (111)
rheumatoid arthritis patients and (134) osteoarthritis patients, was selected out of the early stated
settings. The questionnaire was comprised of

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Publication Date
Sun Jul 01 2018
Journal Name
Current Research In Microbiology And Biotechnology
Detection of anti-Helicobacter pylori in patients with Multiple Sclerosis
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To determine the relationship between Helicobacter pylori infection and Multiple Sclerosis (MS) disorder, 20 patients with MS aged (25-60) years have been investigated from the period of 2016/12/1 to 2017/3/1 and compared to 15 apparently healthy individuals. All study groups were carried out to measure anti H.pylori IgA and H.pylori IgG antibodies by enzyme linked immunosorbent assay (ELISA) technique. There was a significant elevation (p<0.05) in the concentration of anti H.pylori IgG and IgA antibodies (Abs) compared to control group, and there was no significant difference (p>0.05) in the concentration of IgA and IgG (Abs) of H.pylori according to gender, and there was no significant difference (p>0.05) in the concentration of IgA and I

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Publication Date
Sat Jan 01 2022
Journal Name
Annals Of Parasitology
The effect of toxoplasmosis on renal function in hemodialysis patients
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Toxoplasma gondii is an obligate intracellular protozoan parasite; it spreads via the circulatory system during infection and causes chronic infection in various organs. Toxoplasmosis affects nearly one third of people worldwide, especially immunocompromised people. This study aimed to determine the effect of toxoplasmosis on renal function in hemodialysis patients. Overall 300 patients referred to the Medical City, Al-Karama General Hospital, Baghdad, Iraq were enrolled from 2021 to 2022. All serum samples were tested for T. gondii immunoglobulins (IgG and IgM) antibodies, urea and creatinine levels. In patients undergoing hemodialysis, the results revealed a high positivity percentage for anti-Toxoplasma IgG. In hemodialysis patients infe

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Conservative Treatment of Closed Fracture Shaft Humerus in Adult Patients
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Background: Fractures of the humeral shaft
accounting for approximately 3% of all
fractures. There is a wide array of good
options for their treatment and controversy
over the best methods. Although good
techniques of osteosynthesis are available, the
aim of this article is toemphasize on the benefit
and good outcome of conservative treatment
for properly selected cases to decrease the cost
and avoid the complications of surgery.

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Publication Date
Mon Jun 03 2013
Journal Name
Al-kindy College Medical Journal
Conservative Treatment of Closed Fracture Shaft Humerus in Adult Patients
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Background: Fractures of the humeral shaft accounting for approximately 3% of all fractures. There is a wide array of good options for their treatment and controversy over the best methods. Although good techniques of osteosynthesis are available, the aim of this article is toemphasize on the benefit and good outcome of conservative treatment for properly selected cases to decrease the cost and avoid the complications of surgery. Method : During the period from February 2011 to June 2012 fifty-five fractures of humeral shaft were treated at orthopedicdepartment in the ALKindyteaching hospital. 22 fractures considered suitable for the study. The patients treatedconservatively by using the‘U’ shaped coaptation slab. Then we shift to POP c

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Measurement of some Biochemical Values in Hemodialysis Patients in Baghdad
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One hundred of dialysis patients' mean age ( 51.18±8.28) years and one hundred healthy control group , where carried out  from different hospitals of Baghdad city , during the period between November /2012 until March/2013. Blood samples were collected before dialyzing for estimation   the concentration of urea, creatinine, uric acid, random blood sugar , calcium and cholesterol by enzymatic method detected spectrophotometerically.

The  aim of this  study is   to determine concentration of urea, creatinine, uric acid, RBS , calcium and cholesterol in hemodialysis patients in Baghdad . The results showed that there were  highly significant increases (P<0.01) in the mean of creatinine ,

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Publication Date
Wed Sep 16 2020
Journal Name
Al-kindy College Medical Journal
STUDY OF TINEA PEDIS IN DIABETIC VERSUS NON-DIABETIC PATIENTS
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Background : The aim of this work is to study the clinical features and causative fungi of tinea pedis in diabetic and non-diabetic patients. Result : Tinea pedis was estimated to be the second most common skin disease in the United States, after acne. Up to 15% of the U.S., population may have tinea pedis. Across Europe and East Asia, prevalence rates reach 20 %. Methods: The Complete history taking regarding: age, sex, occupation, residency, history of diabetes and diabetic profile (fasting blood sugar and post prandial).and Clinical examination of the feet Aim of the study : The aim of this work was to study the clinical features and causative fungi of tinea pedis in diabetic and non-diabetic patients Conclusion : Tinea pedis is more

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Coloproctology
Role of adiponectin in patients with inflammatory bowel disease unclassified
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Abstract<p> Background Inflammatory bowel disease (IBD) is a lifestyle idiopathic, chronic, and inflammatory intestinal disorders that required long-term medications and care.</p><p> Aim of the study Assess the level of adiponectin in IBDU and its relation with different parameters like lipid profile and Body Mass Index (BMI).</p><p> Type of the study A case-controlled study.</p><p> Patients and methods The total number of study groups was sixty individuals, forty of them were patients with inflammatory bowel disease unclassified and the rest were control healthy subjects. Serums were examined for lipid profile (cholesterol, triglycer</p> ... Show More
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