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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

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
Tue Jun 11 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Aldosterone Levels in Patients With Diabetic Nephropathy in Relation to Vascular Calcification

Diabetic Nephropathy(DN) is a complex disease manifested by persistence microalbuminuria   occurring due to the interaction between hemodynamic and metabolic pathway that activates the local renin-angiotensin-aldosterone system resulting in a decline in renal functions.

This study aimed to quantify the associations between serum aldosterone concentration and fetuin- A as a marker of calcification in type 2 diabetic patients with and without microalbuminuria from one side, and study the possible relationship between aldosterone and fetuin-A with glycemic indices, serum electrolyte, renal function and microalbuminuria and body mass index from the other side.

A case-control study involved eighty-six adult subjects

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Publication Date
Wed May 17 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation Interleukin ─ 8 and High Sensitivity C - Reactive Protein in Sera of Control Group and Human Female Patients with Osteoarthritis Nodal in Iraqi's Patients

       The present study conducted on 30 female patients with osteoarthritis OA a attending Baghdad teaching hospital, in addition to 30 healthy females, all subjects were (35-65) year's old .Parameters were measured in the sera of patients group and healthy groups were interleukin -8 (IL-8) and high sensitivity C-reactive protein (hs-CRP).The results revealed a higher significant in all parameters of patients sera compared to healthy groups. Conclusion was obtained that IL-8 and hs- CRP were a markers or player inflammatory disease like osteoarthritis nodal  

 

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Publication Date
Sat Jul 08 2017
Journal Name
Research Journal Of Pharmaceutical , Biological And Chemical Sciences
Assessment activity and Partial purification of Alkaline phosphatase (AIP) from sera of patients with celiac disease

Publication Date
Thu Jul 11 2019
Journal Name
Journal Port Science Research
Evaluation Activity of Alanine Aminopeptidase (AAP) in Patients with Renal Dialysis, Purification and Isolation of Isoenzymes

Publication Date
Sat Nov 10 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of Instructional Intervention on Medical and Health Information of Patients with Diabetes Mellitus Type II

Objective: The objectives of the present study were to evaluate the effectiveness of the instructional intervention
about medical and health knowledge of patients with diabetes mellitus type II.
Methodology: A Quasi- experimental study was carried out in National Center for Diabetes Mellitus/ Almustansria
University, started from 4th January 2012, to 1st April 2012. Non-probability (purposive sample) of (50) diabetes
mellitus type II, who visit National Center for Diabetes Mellitus/ Almustansria University. The study sample is
divided equally into (25) study and (25) control groups. The study group received the instructional intervention.
While the control not exposed to the instructional intervention. The data are coll

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Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Treatment of Patients with Vitiligo by Intradermal Pricking of Vitiligenous Skin Using Sharp and Blunt Needle

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Publication Date
Sun Oct 07 2012
Journal Name
Journal Of Educational And Psychological Researches
The effect of music therapy in lowering high blood pressure in patients with diseases of sugar

 

      Faces of the individual in his life many stressful events, which includes expertise undesirable, and events may involve a lot of sources of tension and the risk factors and threats in all areas of life, and this would make the stressful events play a role in the genesis of many diseases physical.            

The high blood pressure is one of the most Actual manifestations of mental stress in the present scale physical disorders which may frequently in men relative to women, which may be caused by spasms in the blood vessels.      

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Publication Date
Sat Nov 03 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of Short Wave Diathermy and Therapeutic Ultrasound on The Management of Patients With Knee Osteoarthritis

Objective : The present study is aimed to evaluate the effectiveness of short wave diathermy and
ultrasound therapy for the management of patients with knee osteoarthritis
Methodology : all patients who referred to the Medical Rehabilitation Unit in Baghdad Teaching
Hospital and Sadr A!-Qanat Center. The period of the study was from October 2004 to April 2005, total
number of patients was 24 (9 male and 15 female). Age range of patients was 42-70 years. Complete
clinical and radiological examinations were achieved on all patients and referred to the Medical
Rehabilitation Unit for physiotherapy. Short wave diathermy and ultrasound therapy were applied on
all patients.
Results : Demographic distribution revealed th

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Publication Date
Thu Oct 03 2013
Journal Name
J. Of University Of Anbar For Pure Science
Determination of thyroid hormone levels in the serum of Non- dialyzed patients with chronic renal failure

Thyroid hormones, triiodothyronine (T3) and thyroxin (T4) play an important role in growth, development, and physiology of the kidney. The kidney has a central role in metabolism and clearance of these hormones as well as thyroid – stimulating hormone (TSH). Chronic renal failure (CRF) is a state of irreversible deceleration in renal function results in alterations in internal milieu, which affects the synthesis and secretory rate of hormones. To evaluate the thyroid hormone levels in non-dialyzed patients with chronic renal failure (CRF); 24 patients with CRF aged 30-70 years, mean±S.d. (48.458 ± 13.569) and 48 healthy volunteers who served as controls aged 30-70 years (43.104 ± 12.387) were studied for their thyroid function status u

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Publication Date
Thu Jun 15 2023
Journal Name
Journal Of Baghdad College Of Dentistry
Evaluation of leukocytes cells types counts in blood from patients with different severities of periodontal diseases

Background: Periodontal diseases are inflammatory disorders caused by the accumulation of oral biofilm and the host response to this accumulation which characterized by exaggerated leukocytes and neutrophils attraction to the sites of inflammation by chemoattractants which are a very important part of the pathogenesis of periodontal diseases. This study aimed to determine and compare the clinical periodontal parameters and the leukocyte cell types in the peripheral blood between patients with gingivitis and periodontitis with different severities compared to healthy controls. Materials and methods: This study included 150 male subjects aged between 35-50 years. They were divided into three groups: gingivitis group (n=30), periodontitis p

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