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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
Tue Jan 10 2017
Journal Name
International Journal Of Dynamics And Control
On local approximation-based adaptive control with applications to robotic manipulators and biped robots
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Publication Date
Mon Jun 03 2019
Journal Name
Al-kindy College Medical Journal
A Case Report -Bilateral Giant Achilles Tendon Xanthomas Resection with a Tendon transverse Technique
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Background : Xanthomatosis is a disease in which large tendon tumors can occur, especially in the Achilles tendon. This disease is a rare interesting orthopaedic condition. Case Report:A case of a twenty eight year old girl patient with giant bilateral Achilles tendon xanthomas in which both tumors were resected. There was no ulceration on the both sides. The patient was treated by total resection of the lesion and reconstruction using tendon transfer of the Peroneus brevis and Flexor hallusis longus. Postoperative treatment consisted of six weeks lower leg cast immobilization followed by partial weight bearing. After 4 months the patient was able to walk pain free without any difficulties. It has been suggested that total resection with au

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Publication Date
Fri Jun 01 2018
Journal Name
Nano Hybrids And Composites
OLED Hybrid Light Emitting Devices with ZnS QDs, TPBi and Alq3 Electron Transport Layers
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Semiconductor quantum dots (QDs) have attracted tremendous attentions for their unique characteristics for solid-state lighting and thin-film display applications. A simple chemical method was used to synthesis quantum dots (QDs) of zinc sulfide (ZnS) with low cost. The XRD) shows cubic phase of the prepared ZnS with an average particles size of (3-29) nm. In UV-Vis. spectra observed a large blue shift over 38 nm. The band gaps energy (Eg) was 3.8 eV and 3.37eV from the absorption and photoluminescence (PL) respectively which larger than the Eg for bulk. QDs-LED hybrid devices were fabricated using ITO/ PEDOT: PSS/ Poly-TPD/ ZnS-QDs/ with different electron transport layers and cathode of LiF/Al layers. The EL spectrum reveals a bro

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Publication Date
Thu Aug 31 2023
Journal Name
Journal Of Kufa For Mathematics And Computer
Four Points Block Method with Second Derivative for Solving First Order Ordinary Differential Equations
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Publication Date
Thu Feb 28 2019
Journal Name
Political Sciences Journal
American Presidential Elections- Mechanism and campaign Issues with special reference to 2008-2012 elections
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Publication Date
Mon Mar 01 2021
Journal Name
Journal Of Physics: Conference Series
Serum iron status in association with pregnancy outcomes in infertile women undergoing IVF/ICSI
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Abstract<p>Iron status can affect the outcome of <italic>in</italic> vitro-fertilization (IVF) in infertile women who undergoes this process. The aim of this study is to evaluate iron status, ceruloplasmin ferroxidase activity and their association with outcome of pregnancy prior to initiation of IVF/ICSI procedure. The participants were fertile women with male cause infertility (control; n=25), women with polycystic ovary syndrome (PCOS; n=21), women with low anti-Müllerian hormone level (AMH; n=26), and women with unexplained infertility (UI; n=27). Blood samples were obtained on the day of oocyte aspiration. Serum iron, ferritin, transferrin level, and ceruloplasmin ferroxidase act</p> ... Show More
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Publication Date
Sat Feb 28 2026
Journal Name
Journal Of Al-qadisiyah For Computer Science And Mathematics
Modified LASS Method Suggestion as an additional Penalty on Principal Components Estimation – with Application-
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This research deals with a shrinking method concernes with the principal components similar to that one which used in the multiple regression “Least Absolute Shrinkage and Selection: LASS”. The goal here is to make an uncorrelated linear combinations from only a subset of explanatory variables that may have a multicollinearity problem instead taking the whole number say, (K) of them. This shrinkage will force some coefficients to equal zero, after making some restriction on them by some "tuning parameter" say, (t) which balances the bias and variance amount from side, and doesn't exceed the acceptable percent explained variance of these components. This had been shown by MSE criterion in the regression case and the percent explained v

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Publication Date
Tue Dec 14 2021
Journal Name
Petroleum Science And Technology
Coupled reservoir geomechanics with sand production to minimize the sanding risks in unconsolidated reservoirs
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Sand production in unconsolidated reservoirs has become a cause of concern for production engineers. Issues with sand production include increased wellbore instability and surface subsidence, plugging of production liners, and potential damage to surface facilities. A field case in southeast Iraq was conducted to predict the critical drawdown pressures (CDDP) at which the well can produce without sanding. A stress and sanding onset models were developed for Zubair reservoir. The results show that sanding risk occurs when rock strength is less than 7,250 psi, and the ratio of shear modulus to the bulk compressibility is less than 0.8 1012 psi2. As the rock strength is increased, the sand free drawdown and depletion becomes larger. The CDDP

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Publication Date
Thu Sep 12 2019
Journal Name
Al-kindy College Medical Journal
A Case Report -Bilateral Giant Achilles Tendon Xanthomas Resection with a Tendon transverse Technique
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Background : Xanthomatosis is a disease in which large tendon tumors can occur, especially in the Achilles tendon. This disease is a rare interesting orthopaedic condition.

Case Report:A case of a twenty eight year old girl patient with giant bilateral Achilles tendon xanthomas in which both tumors were resected.

There was no ulceration on the both sides. The patient was treated by total resection of the lesion and reconstruction using tendon transfer of the Peroneus brevis and Flexor hallusis longus. Postoperative treatment consisted of six weeks lower leg cast immobilization followed by partial weight bearing. After 4 months the patient was able to walk pain free without any difficultie

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Publication Date
Sun Jun 01 2025
Journal Name
Journal Of Dentistry
Enamel conservation orthodontic paradigm via treatment with newly developed remineralizing calcium-phosphate etchant pastes
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Objective To evaluate recently developed acidic calcium-phosphate (CaP) pastes as conservative enamel-conditioning systems for bracket bonding and investigate their effects on the shear bond strength, adhesive residues, and enamel damage in comparison to a conventional 37 % phosphoric acid (PA) gel. Materials and methods Two experimental etchant pastes consisting of hydroxyapatite and monocalcium phosphate monohydrate were prepared by mixing them with 37 % and 10 % PA solutions, respectively. These were characterized using X-ray diffraction. Metal brackets were bonded to 90 freshly extracted human premolars and assigned to three groups, depending on etchant type: 37 % PA-gel (control) and the two experimental (HPA and MPA) pastes. Shear bon

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