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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

Scopus
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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
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
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
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
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 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
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 Nov 01 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Postoperative Follow-up for Patients with Recurrent Kidney Stone
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Abstract Kidney stones are one of the most common and most painful medical problems known (1). Nurses assess and monitor patients through diagnosis and treatment and teach patients how to avoid recurrence of stones (2). A descriptive study was conducted on 150 patients diagnosed with recurrent kidney stones, who were attending the out patients consultation urology disease clinics at surgical specialties, Al-Kadhimia, Al-Yarmook, and Al-Karama Teaching Hospital and Extracorporeal shock wave lithotripsy (ESWL) departments for the period from the 1st of Feb. 2002 through to the end of May 2004. The aim of

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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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Crossref
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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