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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.

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Publication Date
Sat Oct 01 2022
Journal Name
The Egyptian Rheumatologist
Interleukin-22 is up-regulated in serum of male patients with ankylosing spondylitis
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Publication Date
Thu Jan 30 2014
Journal Name
Al-kindy College Medical Journal
Orbital Hydatid Disease: A case study of young patients with primary orbital lesion
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Background:This is a prospective study of three children presented to us in the Orbital clinic in AL ShahidGazi Al Hariri Hospital with painless proptosiswith suspension of Hydatid disease.Objectives: : Orbital hydatid disease is a rare lesion accounting for less than 1% of the total lesions of the body (1, 2). Orbital cysts presented as a primary lesion in our study which is rare to have such lesion without involvement of other organs (3). Humans represent the intermediate host where the commonly affected organ are liver and the lung (10-15%) (4). Methods:This is a prospective study of three Children presented to us in the Orbital clinic in Al Shahid Ghazi Alhariri Hospital with painless proptosis with suspension of Hydatid disease, dep

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Psychiatric Squele of Sodium Valproate Versus Carbamazipine in Patients with Primary Generalized Epilepsy
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Background: psychiatric and behavioral side effects are
common in patients with epilepsy and it may represent an
intrinsic feature of the disease itself or a side effect of the
antiepileptic use. Our aim in the present study is to assess
the psychiatric side effects of Sodium Valproate and
Carbamazipine .as these drugs are the most commonly
used antiepileptic drugs in Iraq.
Methods: 80 patients with primary generalized epilepsy
on Carbamazipine and 50 patients on Sodium Valproate
were enrolled in the present study; all the patients were
assessed for any psychological disturbances using semistructural interview based on the tenth edition of the
international classification of the diseases(ICD 10)
adopte

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of stressful life events for patients with substance abuse in Baghdad city
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Objective: The present study aims to assess the stressful life events for patients with substance abuse in Baghdad city.
Methodology: A descriptive study was carried out at (Baghdad teaching hospital and Ibn-Rushed Psychiatric hospital).
Starting from 1
st of December 2012 to 3
rd of July 2013, A non-probability (purposive) sample of 64 patients that
diagnosed with substance abuse, the data were collected through the use of semi-structured interview by
questionnaire, which consists of three parts sociodemographic data, medical information, and Life events scale
consists of 49-items distributed to six domains including, family and social domain, health domain, security, legal and
criminal domain, work and school do

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Publication Date
Tue Jul 23 2024
Journal Name
Haya: The Saudi Journal Of Life Sciences
Levels of Interleukin - 40 and Lipid Profile in patients with Helicobacter pylori Infection
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The study was carried out to detection of H.pylori in (200) patients who attended two teaching hospitals in Baghdad. The diagnosis done by Immunochromatography methods. Stools and blood samples was taken from each patient as well as other (30) healthy control matching in their age. The study included detection the Levels of Interleukin-40 and CRP in sera of patients and control. The result indicated presence of H pylori antigen in 115 cases 59 cases of males and 51 of females, Also, the result indicated increasing levels of IL-40, cholesterol, Triglycerides, Low density lipoprotein, Very Low density lipoprotein increased significantly while the level of High density lipoprotein decreased in patients sera in comparison with healthy c

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Publication Date
Tue Feb 26 2019
Journal Name
Journal Of Contemporary Medical Sciences
Demographic and clinical profiles of female patients diagnosed with breast cancer in Iraq
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Objective To highlight the main demographic characteristics and clinical profiles of female patients registered with breast cancer in Iraq; focusing on the impact of age.Methods This retrospective study enrolled 1172 female patients who were diagnosed with breast cancer at the Main Center for Early Detection of Breast Cancer/Medical City Teaching Hospital in Baghdad. Data were extracted from an established information system, developed by the principal author under supervision of WHO, that was based on valid clinical records of Iraqi patients affected by breast cancer. The recorded information regarding clinical examination comprised positive palpable lumps, bloody nipple discharge, skin changes, bilateral breast involvement, tumor

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Publication Date
Thu Apr 18 2019
Journal Name
Al-kindy College Medical Journal
Mitral Valve Prolapse In Patients With Benign Joint Hypermobility Syndrome (BJHS)
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Background: Joint hypermobility  was first mentioned by Hippocrates as an isolated feature, when he described the Celts' Incapacity to Pull a Bowstring or Throw a Dart, Due to The Slackness of Their Limbs

Objective: to determine the prevalence of mitral valve prolapse(MVP)in patients with benign hypermobility syndrome (BJHS).

Type of the study: Cross –sectional study.

Methods: Ninety patients with BJHS were included in this study. Full cardiological assessment was done for all of them,  which  include clinical examination, electrocardiography and echocardiography. Cardiac assessment was done for another sixty age and sex matched (

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Publication Date
Mon Mar 01 2021
Journal Name
Medico-legal Update
Asprosin Role for Obese Male Patients with Diabetic Mellitus Type II
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Hormones, their receptors, and the associated signaling pathways make compelling drug targets because of their wide-ranging biological significance to study the role of asprosin in obese male patients with diabetic mellitus type II. ELISA method was used to assay asprosin and insulin. Blood was taken with drawn sample from 30 obese normal patients with age range (40-60) years, 30 diabetic patients with age range (40-60) years at duration of disease (1-5) years and 30 normal healthy patients. The mean difference between T2DM according to insulin % (23.8±0.6) was increased than the mean of IFG (17.7±1.0) (P 0.000). The mean difference between T2DM according to asprosin (122.1±21.8) was increased than the mean of IFG (51.4±2.7) (P 0

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Publication Date
Sun Sep 06 2009
Journal Name
Baghdad Science Journal
Cox proportion hazard model for patients with hepatitis disease in Iraq
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Cox regression model have been used to estimate proportion hazard model for patients with hepatitis disease recorded in Gastrointestinal and Hepatic diseases Hospital in Iraq for (2002 -2005). Data consists of (age, gender, survival time terminal stat). A Kaplan-Meier method has been applied to estimate survival function and hazerd function.

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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Correlation between malondialdehyde and metanephrine in patients with acute lymphoblastic leukemia
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Acute lymphoblastic leukemia (ALL) is one of the most common diseases , so in this study the serum level of malondialdehyde and its relationship with metanephrine was investigated in acute lymphoblastic leukemia patients over one month of treatment. Some biochemical parameters (serum glucose , total serum protein , malondialdehyde ,vitamin C, and metanephrine) changed as well as white blood cell count and blood hemoglobinlevelswere analyzed in sixty patients diagnosed with acute lymphoblastic leukemia over one month of treatment compared to healthy control group.Statistically significant increases (p<0.01) in white blood cell (WBC) count, mean concentrations of malondialdehyde (MDA) (p< 0.05) and metanephrine (p< 0.001) were observed in

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