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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 May 26 2020
Journal Name
Connect Journals
DIAGNOSTIC VALUE OF N-TERMINAL PRO BRAIN NATRIURETIC PEPTIDE (NT-PRO BNP) IN IRAQI CHILDREN WITH HEART FAILURE
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Heart failure (HF) is characterized by family history and clinical examination combined with diagnostic tools such as electrocardiogram, chest x-ray and an assessment of left ventricular function by echocardiography. An early diagnosis of heart failure is still based on symptoms of dyspnea, fatigue and signs of fluid overload. Serum N-terminal pro-B-type natriuretic peptide (NT-pro BNP) is cardiac biomarker has emerged as potential predictor of heart failure. It is used as a sensitive biomarker in diagnosis and assessment severity of heart failure. This study assed the diagnostic value of (NT-pro BNP), in Iraqi children patients with heart failure and its correlation with LVEF% especially in emergency rooms of hospitals.Ninety (90) consecut

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Publication Date
Wed Sep 15 2021
Journal Name
Al-academy
Designing Clothes that Meet the Functional and Aesthetic Needs of Children with Hip Dislocation: تهاني عبد الله القديري
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Children who have a health problem need special requirements for their clothes. The purpose of the study is to design functional and aesthetic clothes to meet their needs. The research used the applied descriptive approach. The research sample comprised 120 women whose children suffered from hip dislocation. Designs for injured children presented and submitted to the arbitrators for evaluation regarding the functional and aesthetic aspects. The finding was achieving the design solutions. The most important recommendations are to increase attention to designing clothes to suit all the needs of society.

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Publication Date
Mon Mar 02 2020
Journal Name
Egyptian Journal Of Medical Human Genetics
Characterization of the major human STAG3 variants using some proteomics and bioinformatics assays
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STAG3 is the meiotic component of cohesin and a member of the Cancer Testis Antigen (CTA) family. This gene has been found to be overexpressed in many types of cancer, and recently, its variants have been implicated in other disorders and many human diseases. Therefore, this study aimed to analyze the major variants of STAG3. Western blot (WB) and immunoprecipitation (IP) assays were performed using two different anti-STAG3 antibodies that targeted the relevant protein in MCF-7, T-47D, MDA-MB-468, and MDA-MB-231 breast cancer cells with Jurkat and MCF-10A cells as positive and negative controls, respectively. In silico analyses were searched to study the major isoforms. WB and IP assays revealed two abundant polypeptides < 191 kDa and

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Publication Date
Wed Nov 01 2023
Journal Name
Clinical Epidemiology And Global Health
The association of interleukin-10 single nucleotide polymorphisms (rs1800871) and serum levels in Iraqi patients with celiac disease: A case-control study
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Publication Date
Sat Jan 23 2021
Journal Name
Neural Computing And Applications
Multi-objectives TLBO hybrid method to select the related risk features with rheumatism disease
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Publication Date
Sun Jun 04 2017
Journal Name
Baghdad Science Journal
Detection of zpx gene of Cronobacter sakazakii isolated from Clinical samples for Iraqi children under Two Years
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The study included 200 samples were collected from children under two years included (50 samples from each of Cerebrospinal fluid, Blood, Stool and Urine) from, (Central Children Hospital and Children's Protections Educational Hospital) The Iraqi Ministry of Health, the Department of Health Baghdad .the period from the first of 2015 September to the first of December 2015, Were obtained isolates bacterial subjected to the cultural, microscopic and biochemical examination and diagnosed to the species by using vitek2 system .The results showed there were contamination in 6.5% of clinical samples. The diagnosed colonies which gave pink color on the MacConkey agar, golden yellow color on the Trypton Soy agar and green color on t

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Publication Date
Wed Aug 31 2022
Journal Name
Journal Of Positive School Psychology
Impact Of An Educational Program For Nursing Management About Care Of Children Treated With VP Shunt In Mosul City
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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Molecular diagnosis of E.coliO157:H7 Which Isolated from Children with Diarrhea by using Multiplex PCR
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A total of 96 stool samples were collected from children with bloody diarrhea from two hospitals in Baghdad. All samples were surveyed and examined for the presence of the Escherichia coli O157:H7 and differentiate it from other Non -Sorbitol Fermenting Escherichia coli (NSF E. coli). The Bacterial isolates were identifed by using morphological diagnostic methods, Samples were cultured on liquid enrichment medium, incubated at 37C? for 24 hrs, and then cultured on Cefixime Tellurite -Sorbitol MacConkey Agar (CT- SMAC). 32 non-sorbitol fermenting bacterial isolates were obtained of which 11 were identified as Escherichia coli by using traditional biochemical tests and API20E diagnostic system without differentiation between

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Publication Date
Thu Dec 06 2018
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Comparing the Quality of Life among Patients with Relapsing Remitting Multiple Sclerosis in Iraq Using Different Disease Modifying Therapies
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Multiple sclerosis (MS) is a chronic, inflammatory, immune mediated disease of the central nervous system, mostly affecting young adults with mean age of 30 years, twice as high in women compared to men. The etiology of MS is not fully elucidated. MS symptoms are directly related to demyelination and axonal loss, along with other psychological symptoms, can result in functional limitations, disability and reduced quality of life (QoL).  The QoL assessments in patients with a chronic disease may contribute to improving treatment and could even be of prognostic value. The goals  of this study were  to  compare the QoL of  Iraqi patients with relapsing remitting multiple sclerosis (RRMS),using three different diseas

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Publication Date
Mon Jun 04 2018
Journal Name
Baghdad Science Journal
Effect the Thickness on the Electrical Properties and (I-V) Character of the (CdTe) Thin Films and Find the Efficiency of Solar Cell CdTe/CdS
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Thin films of CdTe were prepared with thickness (500, 1000) nm on the glass substrate by vacuum evaporation technique at room temperature then treated different annealing temperatures (373,473,and 573)K for one hour. Results of the Hall Effect and the electrical conductivity of (I-V) characteristics were measured in darkness and light.at different annealing temperature results show that the thin films have ability to manufacture solar cells, and found that the efficient equal to (2.18%) for structure solar cell (Algrid / CdS / CdTe /glass/ Al) and the efficient equal to (1.12%) for structure solar cell (Algrid / CdS / CdTe /Si/ Al) with thick ness of (1000) nm with CdTe thin films at RT.

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