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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 Aug 17 2024
Journal Name
International Academic Journal Of Applied Bio-medical Sciences
Review of Relationship of Acanthamoeba spp. With some Species of bacteria in lenses lesion from Iraqi patients
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The dangerous and potentially blinding condition known as Acanthamoeba keratitis is caused by free-living amoebae of the genus Acanthamoeba. The prevalence of AIDS patients and contact lens wearers has increased in recent years, making cannaeba infections more significant. It's interesting to note that, depending on the parasite, host, and environmental conditions, the pathways linked to Acanthamoeba pathogenesis are frequently extremely complex. Notwithstanding our progress in antibiotic therapy and supportive care, the prevalence of Acanthamoeba keratitis has not decreased

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Publication Date
Thu Jun 15 2023
Journal Name
Bionatura
Molecular identification and Phylogenetic-Tree Analysis of Hard Ticks from wild and domestic cat Felidae in Iraq
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A total of 13 samples of domestic cat Felis cattus (Linnaeus, 1758 ) and 9 samples of wild cat Felis chaus furax (de Winton, 1898) of the Felidae Family were trapped and examined to detect the hard ticks. The areas of the collection were: Baghdad, Al-Rashidiya, Tharthar, Nahrawan, AL-Mahmoudiya (middle of Iraq) and AL-Haretha (south of Iraq), Mosul (north of Iraq). The results of the current study revealed that four species belong to two genera of hard ticks: Haemaphysalis sp. (Koch, 1844), Rhipicephalus turanicus (Morel, 1969), Rhipicephalus sanguineus (Neumann, 1904) and Rhipicephalus appendiculatus (Santos, 1955). The rates and the density of infestation were discussed. The current study aimed to clarify the infestation differe

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Waterpipe tobacco smoking and gene variants of CYP1A1-Ile462Val and -MspI polymorphisms are possibly associated with the risk of lung cancer in the Iraqi population
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Background: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev

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Publication Date
Wed Sep 18 2013
Journal Name
Advanced Materials Research
Artistic Influences Analysis of Iraqi National Costumes
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There were signs of the first civilization known to humanity for more than 6000 years BC in the north of Iraq have disappeared this civilization to appear after 500 years in southern Iraq, the Sumerian civilization, which was considered as the opinion of scientists or civilizations, exceeds the impact to Asia and the countries that had been in contact (Sumerians) and see them today in other towns and villages. In subsequent periods of time appeared distinct personalities to their nature, religious, social, special clothing with clothes seem especially long. And usually dress is made from raw wool material making them in the Sumerian era. Put the garment on the body and leaves the top of the right shoulder with the survival of an ope

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Publication Date
Thu Jan 09 2020
Journal Name
Plant Archives
Molecular Study of Two Fungi Millerozyma Farinosa and Candida Orthopsilosis by PCR Using Its Gene and Phylogenetic Structuring Tree Isolated from Diabetic Patient in Baghdad
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Diabetic mellitus is one of the main risk factors of fungal infections because poor glycemic control is associated with a high level of glucose in blood and saliva which could be treated as nutrient to fungi. This study aimed to isolate and identification of pathogenic fungi from diabetic patient. 140 samples were taken from different places of human body from the national center of diabetic patients that related to Mustansiriyah University / college of medicine and Al-yarmuk Hospital in Baghdad. 84 sample (60%) tested positive to fungi and 56 sample (40%) tested negative to fungi. The most frequented fungi isolated have been chosen for molecular identification by PCR (Millerozyma farinosa and Candida orthopsilosis) using specific pri

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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Optimization of Glutathione S-Transferase in the Sera of Young Female Iraqi Patients with Diabetes Mellitus Type1
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This study was attempted to determine optimum conditions, for Glutathione s-Transferase enzyme, in sera of three groups diabetic patients type1 depending on duration of disease without complications compared with control group. The aim of this study was to find optimum conditions were determined such as (pH, Substrate Concentration, Temperature, Incubation time, Enzyme concentration, and effect of(0.15M)(0.25M) of mono divalent compounds). And to find the kinetics parameters in the three groups of diabetic patients when compared with control. It was found optimum pH(8.5,4.5,2.5,6.5).Temperatures(20cº,40cº,50cº,30cº). Incubation times (7min, 4min, 4min, 5min) substrate concentrations (12µl, 10µl, 5µl, 10µl) enzyme concentra

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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)
Uric Acid as a Natural Scavenger of Peroxynitrite in a Sample of Iraqi Patients with Rheumatoid Arthritis
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Rheumatoid arthritis (RA) is a chronic inflammatory disease associated with decreased antioxidant state .This study aim to investigate the status of oxidant/antioxidant in a sample of  Iraqi patients with RA and the role of peroxynitrite and its natural scavenger uric acid in them .This case-controlled study was conducted at Baghdad teaching hospital /Baghdad from December 2010-May 2011 . Twenty-five patients with mean age 39 years and 25 apparently healthy subject as controls with mean age 29 years were included in the study .Investigations include estimation of serum levels of nitric oxide (NO)  ,peroxynitrite (PN) , malondialdehyde (MDA)  , and uric acid (UA) .Serum PN levels were significantly elevated in RA patients a

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Publication Date
Wed Dec 30 2020
Journal Name
Al-kindy College Medical Journal
Measurement of plasma fibrinogen and D-dimer in a sample of Iraqi patients with solid malignant tumors
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Background: Multifactor affect the pathogenesis of thrombosis in solid malignancy; however, a significant role is attributed to the cancer cells ability to interact with and activate the host hemostatic system. [1] 

Hemostasis is highly correlated to tumor growth, angiogenesis and metastasis, modulation of these pathways reflects interesting and promising treatment options in the future. [1]

Most patients with cancer frequently suffer from chronic compensated DIC and have abnormal laboratory coagulation tests without clinical manifestations of thrombosis, which is a subclinical hypercoagulable state that can be detected by varying degrees of activation of blood clotting. The results of laboratory tests in th

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Publication Date
Wed Aug 31 2011
Journal Name
Ibn Al- Haitham J. For Pure & Appl. Sci
Effect Of Some Enzymes Activity In Liver Diseases From Patients Of Salmonella Paratyphi A With Iraqi Woman.
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This present study demonstrated that liver was involved in 14 %of typhoid patients manifesting with hepatomegaly. Elevation of serum enzymes in typhoid fever was presumably of a muscular origin, while elevation of liver enzyme was relatively less common. This study was performed on 30 female patients diagnosed by ultrasound (US) of abdomen, with paratyphoid A, ranged between (20-40) years compared with 30 healthy control .Patients volunteers were treated with appropriate antibiotics for 14 days and investigations were repeated 2-3 week after completion of treatment. Patients had clinical and biochemical evidence of hepatic dysfunction. The spectrum of hepatic involvement included hepatomegaly , jaundice, derangement of various hepatic func

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Publication Date
Wed Sep 30 2015
Journal Name
Iraqi National Journal Of Chemistry
Evaluation of copper and zinc in Sera of Iraqi male patients with prostate cancer in Baghdad city
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Prostate cancer is an important and potentially fatal disease in humans. Both genetic and environmental risk factors are associated with increased risk of prostate cancer among Asian pop

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