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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

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Publication Date
Tue Mar 01 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
CORRELATION OF TMPRSS2-ERG GENE FUSION STATUS WITH CLINICOPATHOLOGICAL CHARACTERISTICS IN PROSTATE CANCER OF IRAQI PATIENTS
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Publication Date
Wed Jun 29 2022
Journal Name
Iraqi Journal Of Agricultural Sciences
CORRELATION OF TMPRSS2-ERG GENE FUSION STATUS WITH CLINICOPATHOLOGICAL CHARACTERISTICS IN PROSTATE CANCER OF IRAQI PATIENTS
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The aim of this study was to establish the existence and interaction of TMPRSS2 – ERG gene fusion status with clinicopathological features of prostate cancer patients. This research consisted of 123 embedded formalin-fixed tissues obtained from the prostate tumor patients. The above gene fusion is detected through the technique of fluorescent in situ hybridization (FISH) by means of a triple color probe. Seven samples have not been scored due to technical difficulties and 46 patients have fusion (39.6%), while the remaining (70) have not been seen with fusion. Of the 46 fusion-positive, 17 (36%) were caused by ERG-translocation, of the other 29 (63%) were caused by the interstitial segment deletion between the two genes due to the

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Publication Date
Wed May 20 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Computed tomographic localization of infraorbital foramen position and correlation with the age and gender of Iraqi subjects
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Background: The Infraorbital foramen is an anatomical structure with an important location in the maxilla, position of foramen in maxillofacial area is necessary in clinical situation requiring regional nerve blocks that are performed in children undergoing facial surgeries to avoid injury to corresponding nerve. The aim of study was to determine the position of the Infraorbital foramen and to correlate Infraorbital foramen position with age and gender using computed tomography. Subjects, Materials, and Methods: The sample consist of prospective study for 50 Iraqi subjects (21 male and 29 female) with age ranged from (5-17) years. The examination was performed on Multi – Slice Spiral Tomography scanner in Al-Karakh General Hospital. Using

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Publication Date
Tue Sep 03 2019
Journal Name
Rawal Medical Journal
Evaluation of Radial Nerve Injury Associated with Closed Humeral Shaft Fracture by Early Pre-operative Ultrasonic Evaluation and Correlation with Surgical Exploration
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Traumatic radial nerve injury in humeral shaft fracture is the most common traumatic nerve injury in long-bone fracture, with overall prevalence 2-18%, ranging from traction to complete transection. Spontaneous recovery may reach 88%. The aim of the study is to assess the sensitivity & specificity of the ultrasound to detect the radial nerve injury and to see if this can be used as a diagnostic test. This is a prospective study on 17 adult patients with a closed fracture of the humeral shaft, dividing into two groups, the first group of 7 patients had signs and symptoms of radial nerve palsy at presentation and the second group of 10 patients had intact radial nerve function was considered as a control group. All these patients had at leas

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Publication Date
Wed May 20 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Bone density determination for the maxilla and the mandible in different age groups by using computerized tomography (Part I)
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Background: Mini implant stability is primarily related to local bone density; no studies have evaluated bone density related to mini implant placement for orthodontic anchorage between different age groups in the maxilla and the mandible. The present research aims to evaluate side, gender, age, and regional differences in bone density of the alveolar bone at various orthodontic implant sites. Materials and method: Fifty three individuals who were divided into two groups according to their age into: group I (ages 16-20 years) and group II (ages 21-29 years) had subjected to clinical examination, then 64-multislice computed tomography scan data were evaluated and bone density was measured in Hounsfield unit at 102 points (51 in the maxilla

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Publication Date
Mon Jun 22 2020
Journal Name
Baghdad Science Journal
Splitting the One-Dimensional Wave Equation. Part I: Solving by Finite-Difference Method and Separation Variables
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In this study, an unknown force function dependent on the space in the wave equation is investigated. Numerically wave equation splitting in two parts, part one using the finite-difference method (FDM). Part two using separating variables method. This is the continuation and changing technique for solving inverse problem part in (1,2). Instead, the boundary element method (BEM) in (1,2), the finite-difference method (FDM) has applied. Boundary data are in the role of overdetermination data. The second part of the problem is inverse and ill-posed, since small errors in the extra boundary data cause errors in the force solution. Zeroth order of Tikhonov regularization, and several parameters of regularization are employed to decrease error

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Publication Date
Sun Apr 03 2016
Journal Name
Journal Of Educational And Psychological Researches
Psychological adjustment and social relationship with the phenomenon of violence among children in pre-school stage
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The childhood is an important stage in building the character of the individual and where children acquire the most important experiences . providing proper growth requirements of the things follows assist them in achieving a stable and together Childhood is the violence of indicators that can determine whether personal or illness social .the social circumstances experienced community Iraqi and continues through crises successive wars and explosions and the displacement and that these events may lead to changes in the social behavior of individuals and may contribute to the spread of violence in Iraqi society and observed various forms in (home, school, street, and work), so it was natural that a child the first affected by these waves o

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Publication Date
Tue Aug 15 2023
Journal Name
Al-academy
Formal questioning and its representations in the design of contemporary residential rooms for children with autism
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The formal investigation of the interior spaces of the residential bedrooms for children with autism is one of the basic tasks that should be known by the interior designer. Achieving an atmosphere compatible with his health condition, which contributes to generating a sense of spatial intimacy through the design dimension provided by the interior designer and his tireless endeavor to meet the needs of the child in an internal environment that achieves the functional dimension and spiritual approaches that enhance the child’s sense of spatial belonging and contribute to improving his mood and this positively reflects on his behavior and social integration. The current research has reached the most important design criteria that must be

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Publication Date
Fri Jan 05 2018
Journal Name
International Journal Of Science And Research (ijsr)
Comparative Study of Some Antibiotic Resistance, Extended Spectrum ß-Lactamases (ESBLs), Metallo ß-Lactamases (MBLs) Produced in Pseudomonas aeruginosa Isolated from Clinical and Food Samples
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A total number of 33 isolates of Pseudomoans aeruginosa were collected from different clinical samples, such as: burn, wound and urine from patients attending Al-Yarmouk teaching hospital and some private clinical laboratories in Baghdad city through the period from October to December 2016. On the other hand, 21 isolates of P. aeruginosa were collected from 38 different food samples; such as: vegetables and fruits, from different local markets in Baghdad city during the period from November to December 2016. All isolates were identified by using different bacteriological and biochemical assays and confirmed by Vitek-2 identification system. The antimicrobial susceptibility test for clinical and food isolates towards 17 antimicrobial a

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Publication Date
Sun Jun 10 2018
Journal Name
Annals Of Clinical And Analytical Medicine
Lead among children with autism in Iraq. Is it a potential factor?
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Abstract Aim: Autism is a neurodevelopmental disorder which affects communication and social interaction of children. It is a heterogeneous disease with various clinical presentations. Some genes are involved in its pathogenesis. It has been suggested that environmental exposure to lead can increase the risk of autism. The aim of our study was to compare blood lead levels among autistic and non-autistic children. Material and Method: This retrospective study included 107 children (60 with autism and 47 without autism) referred from the different Iraqi provinces, in the years 2015, 2016 and 2017, to the poisoning consultation center in Baghdad. Data collection including age, gender, residence, referral source, family history and blood lead l

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