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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

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Publication Date
Tue Jul 11 2023
Journal Name
Journal Of Educational And Psychological Researches
Social Exclusion of People Infected with Coronavirus and Its Relationship with the Length of Incubation of the Disease Fatin sabaa khamas
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The importance of social exclusion lies in the psychological problems that cause problems in social relations and mental-physical health. For this reason, the researcher set three goals for the current research: identifying the level of social exclusion among people infected with the Coronavirus. The incubation period of the virus. Social exclusion and its relationship to the duration of incubation of the disease among people infected with the Coronavirus. The result showed that the research sample does not suffer from social exclusion. The mean value for the period from

(8-14) days is the highest value followed by the period (1-7) days and the period

 (14 days or more) comes at the end. There is no statistically sig

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Publication Date
Sun Jul 01 2018
Journal Name
Journal Of Educational And Psychological Researches
The Family’s Role in Inculcating the Moral Values of Voluntary Work among Adults
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The study aims to identify the role of family in inculcating the moral values of voluntary work among adults, as it constitutes the basic social institution that is responsible for raising and control children. It has regarded as the first phase of constituting societies, where family plays a significant role in changing the behavior of individuals positively or negatively through provided patterns. The moral values act as organizer of human relationship in which misusing of these values would affect the interaction between people. This study focuses on how to employ the moral values in voluntary work as a civilized behavior helps in developing and strengthening societies. The researcher adopted the analytical-descriptive approach as mor

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Publication Date
Wed Oct 18 2023
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessing Risk Factors of Pneumonia among Adults at Ibn-Sina in Mosul City
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Objectives: the aim of the study to assess the most common risk factors of pneumonia at adult and find the
socio-demographic characteristics of sample.
Methodology: the study performed at Ibn-Sina teaching hospital (intensive care unit) and out patient in the same
hospital period of (15 ) November (2006) till (1ا٤) February (2007).The sample of the study includes (65)
patients with pneumonia for different underlying causes who were attending Ibn-Sina teaching hospital age
range (59-68) years is the highest level and is the most common risk factor for pneumonia.
Results: the results of the study most patients' hospital acquired-pneumonia from contamination during
administration to hospital but community acquired-pne

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Publication Date
Thu Jun 04 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Establishment of the possible association between the presence of Helicobacter pylori in the saliva and gastric biopsy by using polymerase chain reaction technique in association with oral manifestation of peptic ulcer disease
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Background: Helicobacter pylori are important gastrointestinal pathogen associated with gastritis, peptic ulcers, and an increased risk of gastric carcinoma. There are several popular methods for detection of H. pylori (invasive and non-invasive methods) each having its own advantages, disadvantages, and limitations, and by using PCR technique the ability to detect H. pylori in saliva samples offers a potential for an alternative test for detection of this microorganism. Materials and methods: The study sample consists of fifty participants of both genders, who undergo Oesophageo-gastrodudenoscopy at the Gastroenterology Department of Al-Kindy Teaching Hospital Baghdad/ Iraq, during five months period from January 2014 to May 2014. They we

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Publication Date
Wed Aug 11 2021
Journal Name
International Journal Of Pharmaceutical Research
Evaluation of Serum Adropin Levels in Nonalcoholic Fatty Liver Disease as A Complication of Hypothyroidism In Iraqi Patients المؤلفون
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Publication Date
Mon Apr 10 2023
Journal Name
Current Microbiology
Influence of Light Color on Power Generation and Microalgae Growth in Photosynthetic Microbial Fuel Cell with Chlorella Vulgaris Microalgae as Bio-Cathode
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Publication Date
Fri Sep 24 2021
Journal Name
Indonesian Journal Of Chemistry
Molecular Imprinted of Nylon 6 for Selective Separation of Procaine by Solid-Phase Extraction
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The study is based on the selective binding ability of the drug compound procaine (PRO) on a surface imprinted with nylon 6 (N6) polymer. Physical characterization of the polymer template was performed by X-ray diffraction and DSC thermal analysis. The imprinted polymer showed a high adsorption capacity to trap procaine (237 µg/g) and excellent recognition ability with an imprinted factor equal to 3.2. The method was applied to an extraction column simulating a solid-phase extraction to separate the drug compound in the presence of tinoxicam and nucleosimide separately and in a mixture of them with a recovery rate more than the presence of tinoxicam and nucleosimide separately and in a mixture of them with a recovery rate of more t

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Publication Date
Tue Nov 01 2011
Journal Name
J Clin Exp Invest Www. Clinexpinvest. Org Vol
Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
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KE Sharquie, KI Al-Hamdi, AA Noaimi, AA Al-Mohammadi, J Clin Exp Invest www. clinexpinvest. org Vol, 2011 - Cited by 1

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Publication Date
Fri Jun 01 2018
Journal Name
International Journal Of Civil Engineering And Technology (ijciet)
Performance assessment of biological treatment of sequencing batch reactor using artificial neural network technique.
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Artificial Neural Network (ANN) model's application is widely increased for wastewater treatment plant (WWTP) variables prediction and forecasting which can enable the operators to take appropriate action and maintaining the norms. It is much easier modeling tool for dealing with complex nature WWTP modeling comparing with other traditional mathematical models. ANN technique significance has been considered at present study for the prediction of sequencing batch reactor (SBR) performance based on effluent's (BOD5/COD) ratio after collecting the required historical daily SBR data for two years operation (2015-2016) from Baghdad Mayoralty and Al-Rustamiya WWTP office, Iraq. The prediction was gotten by the application of a feed-forwa

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Publication Date
Wed May 01 2024
Journal Name
Baghdad Science Journal
Early Prediction of Nephropathy in Iraqi Patient with Diabetes Type II by Evaluating Some Relevant Biochemical Factors
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داء السكري من النوع 2 (T2DM) هو مرض معقد يصيب العديد من الأعضاء إلى جانب البنكرياس مثل الكلى والكبد والدماغ والعين. بسبب ارتفاع السكر في الدم لفترات طويلة وعدم السيطرة على مرض السكري مع وجود عوامل خطر أخرى ، يمكن أن تحدث مضاعفات مرض السكري. تشمل مضاعفات مرض السكري مضاعفات الأوعية الدموية الدقيقة والأوعية الدموية الكبيرة التي تستهدف الكلى. تهدف الدراسة الحالية إلى التحقق من مستوى الانجوتينسن المحول للانزيم  A

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