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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
Sun Mar 01 2020
Journal Name
Iraqi Journal Of Physics
Chaotic features of energy spectrum in 68Ge Nucleus Using the Nuclear Shell Model
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   Chaotic features of nuclear energy spectrum in 68Ge nucleus are investigated by nuclear shell model. The energies are calculated through doing shell model calculations employing the OXBASH computer code with effective interaction of F5PVH. The 68Ge nucleus is supposed to have an inert core of 56Ni with 12 nucleons (4 protons and 8 neutrons) move in the f5p-model space ( and ). The nuclear level density of considered classes of states is seen to have a Gaussian form, which is in accord with the prediction of other theoretical studies. The statistical fluctuations of the energy spectrum (the level spacing P(s) and the Dyson-Mehta (or statistics) are well described by the Gaussian orthogonal ens

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Publication Date
Wed Nov 03 2021
Journal Name
European Journal Of Humanities And Educational Advancements (
Impact of ASSURE Model on Mathematical Correlation and Achievement in Mathematics
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Publication Date
Mon Jul 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
The Correlation of P53 and MSI Immune Markers in Gastric Adenocarcinoma
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العلاقة بين تعبير المعلمات المناعية ل (P53) وعدم استقرار الساتل الميكروي  (MSI) مع العوامل السريرية المرضية لسرطان المعدة الغدي باستخدام الكيمياء النسيجية المناعية. الخلاصة الخلفية: يحدث سرطان المعدة الغدي بسبب عدم استقرار الكروموسومات، وطفرات TP53، واختلال الصيغة الصبغية، والانتقالات، والجينات الورمية الأولية، والتغيرات الجينية المثبطة للورم.عدم استقرار الساتل الميكروي(MSI)  يسبب فشل إصلاح عدم تطابق الحم

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Publication Date
Mon Oct 17 2022
Journal Name
Journal Of The Faculty Of Medicine Baghdad
the incidence and the clinical significance of gray zone in the clinical phases of chronic hepatitis B infection
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Background: five clinical phases were described in patients with chronic (HBV) infection: HBeAg- positive HBV infection, HBeAg- positive chronic HB, HBeAg negative HBV infection, HBeAg-negative CHB and occult HBV infection. Aim: This study aimed to determine the incidence of the unclassified phase (gray zone) in chronic hepatitis B patients and its significant in the clinical practice. Patients and methods: The study was conducted retrospectively on 109 patients' who have HBsAg positive for more than 6 months. The data recorded include; HbeAg and anti-HBe Ab, ultrasound of the abdomen, HBV DNA load and alanine aminotransferase (ALT), accordingly; we classify the patients to known clinical phases. Patients who were unfit one of these phases

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Publication Date
Tue Mar 04 2008
Journal Name
Journal Of Baghdad College Of Dentistry
Twelve months clinical comparison between modified Widman flap with or without enamel matrix derivative for the treatment of infrabony defects
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Publication Date
Thu Jun 30 2022
Journal Name
Gsc Biological And Pharmaceutical Sciences
Revision of public health and clinical importance of amoebiasis in Iraq
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Amebiasis, related to the pathogenic parasite Entamoeba histolytica, is a prominent cause of diarrhea globally. Amebiasis is primarily a disease of impoverished communities in developing nations, although it has recently arisen as a significant infection among returning tourists and immigrants. Severe cases are linked to a high case fatality rate. Although polymerase chain reaction (PCR)-based diagnosis is becoming more widely available, it is still underutilized. Treatment with nitroimidazoles is now suggested, however novel parasite medication research is a top priority. To avoid problems, amebiasis should be considered before corticosteroid therapy. Because there is no effective vaccination, sanitation and availability to clean w

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Publication Date
Thu Jun 30 2022
Journal Name
Gsc Biological And Pharmaceutical Sciences
Revision of public health and clinical importance of amoebiasis in Iraq
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Amebiasis, related to the pathogenic parasite Entamoeba histolytica, is a prominent cause of diarrhea globally. Amebiasis is primarily a disease of impoverished communities in developing nations, although it has recently arisen as a significant infection among returning tourists and immigrants. Severe cases are linked to a high case fatality rate. Although polymerase chain reaction (PCR)-based diagnosis is becoming more widely available, it is still underutilized. Treatment with nitroimidazoles is now suggested, however novel parasite medication research is a top priority. To avoid problems, amebiasis should be considered before corticosteroid therapy. Because there is no effective vaccination, sanitation and availability to clean w

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Publication Date
Mon Sep 03 2018
Journal Name
Al-academy
Metaphorical correlation in the contemporary sculpture
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The present research is concerned with the way in which different dialects interact with each other in contemporary sculpture through the use of the metaphor for various shapes, meanings and materials and placing them in contexts that conflict with the familiar. These attempts come in harmony with the spirit of the times in seeking exoticism, surprise and splendor as a means of renewal. modern Art . Therefore, the research was divided into four axes, the first of which included the research problem, its importance and its aim, which is to attempt to uncover the metaphorical metaphorical relational mechanism in modern sculpture. The second axis included the theoretical framework. The third axis included the research procedures of determin

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Publication Date
Tue Sep 30 2025
Journal Name
Medical Journal Of Babylon
Pompe Disease (A Rare Metabolic Disease) in Basrah, the South of Iraq
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Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic e

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Publication Date
Tue Jun 15 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Effects of Exclusive Breast Feeding for First Six Months of life on Children Weight, Height and Head Circumference in Sulaimani City, Kurdistan-Iraq and Compare with Other Types of Feeding
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Breastfeeding (BF) serves as a complete nutritional source for the first six months of infant’s life. Breast milk contains all essential nutrients that necessary for the physiological growth and development of infants. The aim of this study was to compare the physiological growth of infants including weight, height and head circumference who were exclusively breastfed for 6 months and those who were given bottle-fed or mixed fed and to find a percentage of exclusive breastfeeding among mothers who contributed in this study in Sulaimani city. This study was carried out in Sulaimani city/ Kurdistan region of Iraq and the cases were enrolled between the first of October 2018 and first of October 2019. The infants’ weight, height and hea

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