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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 May 15 2020
Journal Name
International Journal Of Research In Pharmaceutical Sciences
Urodynamic findings of bladder dysfunction in patients with Type 2 DM
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Bladder dysfunction is one of the most common complications of diabetes, even exceeding nephropathy or peripheral neuropathy. Diabetic cystopathyaffects patients in both sexes, and its prevalence increases over time with diabetes; our concern is to evaluate the urodynamic findings of bladder dysfunction in diabetic patients.A cross sectional study conducted at Ghazi Al-Hariri Surgical specialized hospital during the period from the firsts of January 2018 to the end of Mar 2019, in which 118 diabetic patients (71 female and 47 male) with lower urinary tract symptoms were enrolled in the current study. The mean age (62±13) years old, 37.3% of patients presented with urgency as the main type of dysfunction. Diabetic cystopathy were fo

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Publication Date
Thu Apr 13 2023
Journal Name
Journal Of Survey In Fisheries Sciences
The Elevation of Serum Subfatin Levels in Patients with Double Diabetes
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Background: Hybrid diabetes (or double diabetes, DD) occur when the patient which exhibits characteristics that combine type 1 diabetes (T1DM) and type 2 diabetes (T2DM). Formerly epidemiological studies found that quarter of people with T1D also had the metabolic syndrome. Subfatin, Also called cometin, it is a small (~27kDa) cytokine secreted by protein encoded by a gene called METRNL (simeler of meteorin). is much expressed in skin in the mucosal tissues and activated macrophages. Subfatin has also been described as a hormone that effected in some diseases such as metabolic diseases (including dyslipidemia), type 2 diabetes and obesity. Objectives: The current study objective is evaluating the subfatin in the blood serum of double diabet

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Publication Date
Mon Aug 29 2016
Journal Name
Kufa Journal For Nursing Sciences
Atherogenic Index of Plasma Levels in Patients with Diabetic and Neurodiabetic
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Objectives: To determined the levels of lipid profile (TC, TG, HDL-c, LDL-C, VLDL) in diabetic and diabetic neuropathy patients and compare the results with control group. Also, to compare Atherogenic Index of Plasma (AIP) levels in these groups that may be predict prone of patients to cardiovascular disease. Methodology: Ninety subjects were enrolled in this study with aged ranged (40-65) years and BMI with (30-35) Kg/m2 that divided into three groups as follows: group one (G1) consists of 30 healthy individuals as a control group, group two (G2) consists of 30 patients with diabetes and group three (G3) consists of 30 patients with diabetes and neuropathy as complication. Electrochemical Skin Conductance (Feet Mean), Electrochemic

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Clinical Evaluation of Some Biochemical Parameters from Patients in Heamodialysis Room
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As a marker of systemic inflammation, raised (C-reactive protein (CRP)) concentrations which are still within the normal range have been associated with an increased inflammation of chronic renal diseases (CRD). The current study aimed to establish potential determinats of raised CRP concentrations in patients who treated in Heamodialysis room,then study the relationship between CRP& some biochemical parameters related CRD We used a CRP latex reagents Kit which is based on an immunological reaction between CRP antisera bounded to the biologically inert latex particles or with CRP in the test specimens of 19 patients with (CRD) mean age 48 years ,range = 30?65 & in 21 healthy subjects as control group their age range = 30 ?45 years. The

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Effect of Atenolol on CK-MB Levels in Hypertensive Patients
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Atenolol is one of beta-adrenergic receptor blocking agent. It is widely used for the treatment of hypertension as a selective antihypertensive drug. But long term usage of atenolol may cause one of the cardiovascular diseases like myocardial infarction. To prove the relationship between atenolol and cardiovascular disease, measurement of creatinekinase-MB as a diagnostic indicator in early and long term usage of this drug by hypertensive patients is recommended.  A comparative study was conducted in Al-Yarmouk Teaching Hospital–Emergency Department- on 30 hypertensive patients using atenolol. They were divided into (2) groups A and B according to the duration of the drug usage. Group A- (15) patients with a mean age (56

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Publication Date
Sun Sep 22 2019
Journal Name
Baghdad Science Journal
Kinetic Studies of Na+/K+-ATPase in Tissue Aerobic Thyroid Patients
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Na+/K+-ATPase is a prevalent enzyme that maintains the Na+ and K+ gradients across the cell membrane by transporting three Na+ out and two K+ into the cell, the aim of this study  is to provide detailed mechanistic insights, potentially with important effects on physiological regulation of active Na and K transport in tissues of Aerobic Thyroid Patient. Thyroid tissues were obtained from a 35 year old patients, the operation was carried out at the Al-Hadi Specialist Hospital in Samarra city, the sample was stored at -20ºC until used. The purification protocol included Salt Precipitation, Ion Exchange Chromatography, Gel Filtration and E

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Publication Date
Thu Jul 30 2020
Journal Name
Indian Journal Of Forensic Medicine &amp; Toxicology
Nurses’ Knowledge Concerning the Management of Bleeding in Patients with Leukemia
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To achieve the objectives of the study, a non –probability (purposive) sample of (50) nurses were selected those were working at the oncology wards at the above listed hospitals. The data selected according to the criteria of the study sample. The validity of the questionnaire was determined through an expert panel consists of (11) specialist expert and its reliability was determined through a pilot study by test – retest which was estimated as averages (R=0.89). Data was collected by direct interview technique using the questionnaire formal and data was analyzed by application of descriptive & inferential statistical methods (frequency, percentage, mean of score and Chi-Square). The resul

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Publication Date
Tue Dec 30 2008
Journal Name
Al-kindy College Medical Journal
Evaluation of Patients with Liver Injuries Treated by Perihepatic Gauze Packing
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Background: The liver is one of the most common organs
injured after blunt abdominal trauma. The control of severe
hemorrhage remains a problem.
Methods: One-hundred thirty-eight patients diagnosed as
liver injury between 09/2003 and 08/2006 had been evaluated
prospectively in Al- Kindy Teaching Hospital.
A distinction was made between hemodynamically stable and
unstable patients. Different modalities of surgical procedures
were done concentrating on perihepatic gauze packing.
Results: (60 out of 138) patients included in the study were
clinically evaluated as hemodynamically stable. The average
abbreviated injury severity score (ISS) was 25. Twenty
patients underwent abdominal surgery. In 12 of them

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Publication Date
Mon Jan 16 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Type 2 Diabetic Patients’ Knowledge Regarding Preventive Measures of Diabetic Foot
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Objective: Assess type 2 diabetic patients’ knowledge regarding preventive measures of diabetic foot. Find out the relationship between of type 2 diabetic patients’ knowledge regarding preventive measures of diabetic foot with certain sociodemographic characteristics

Methodology: A descriptive study was carried out from (2nd January 2022 to 26th March 2022).  A non –probability (purposive) sample of (60) adult patients who are diagnosed with type2 diabetes mellitus these patients have met the study criteria which was selected from Imam AL-Hussein Medical-City. The study instrument consist of two section: (Demographic Information Sheet, and Foot Care Outcome Expectation

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Publication Date
Thu Feb 01 2018
Journal Name
International Journal Of Pharmacy And Pharmaceutical Sciences
IMPACT OF METFORMIN AND SERRATIOPEPTIDASE IN OBESE PATIENTS WITH KNEE OSTEOARTHRITIS
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Objective: Knee osteoarthritis is a common disabling chronic disease globally. Many pharmacological agents have been used efficiently in treatment of knee osteoarthritis. This study aims to evaluate metformin and serratiopeptidase together in treatment and stop of osteoarthritis progression by different mechanisms. Methods: Present study was a randomized clinical trial study conducted in Al-Kindi teaching hospital through the period from 1st January to 30th of May, 2017 on two groups of 80 osteoarthritis patients (group I; treated with metformin 850 mg oral tablets) and (group II; treated with metformin 850 mg oral tablets and serratiopeptidase 20 mg oral tablets). Parameters of two groups were compared with those of 40 normal healt

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