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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
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 Jan 01 2024
Journal Name
Bio Web Of Conferences
Concepts of statistical learning and classification in machine learning: An overview
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Statistical learning theory serves as the foundational bedrock of Machine learning (ML), which in turn represents the backbone of artificial intelligence, ushering in innovative solutions for real-world challenges. Its origins can be linked to the point where statistics and the field of computing meet, evolving into a distinct scientific discipline. Machine learning can be distinguished by its fundamental branches, encompassing supervised learning, unsupervised learning, semi-supervised learning, and reinforcement learning. Within this tapestry, supervised learning takes center stage, divided in two fundamental forms: classification and regression. Regression is tailored for continuous outcomes, while classification specializes in c

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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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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 Feb 06 2018
Journal Name
International Journal Of Gynecology And Obstetrics
FIGO consensus guidelines on placenta accreta spectrum disorders: Prenatal diagnosis and screening
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Recent population studies have shown that placenta accreta spectrum (PAS) disorders remain undiagnosed before delivery in half to two-thirds of cases. In a series from specialist diagnostic units in the USA, around one-third of cases of PAS disorders were not diagnosed during pregnancy. Maternal

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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
Thu Jun 20 2024
Journal Name
Acta Facultatis Medicae Naissensis
Clinical properties and seminal fluid analysis of patients with primary infertility consulting the urology outpatient clinic for the first time: A cross-sectional study
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Introduction/Aim. Seminal fluid analysis (SFA) plays a crucial role in helping infertility clinics diagnose the underlying reason of male infertility. The aim of the study was to investigate seminal fluid patterns of male partners of an infertile couple with apparently fertile female partners. Materials and methods. A cross-sectional study was conducted between January 2019 and December 2022. Patients were attending consultations for delayed conception for more than 12 months with apparently fertile female partner. Results. Four hundred fifty-three patients were included in the study. The distribution of patients according to age groups showed that 277 patients were young, aged 21 - 30 years (61%). Two hundred sixty-two (58%) patien

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Publication Date
Sat Apr 30 2022
Journal Name
Al-kindy College Medical Journal
Safety profile of immediate post-partum intrauterine device insertion during caesarean delivery – a clinical trial with three years of follow up
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Background Many countries recommend the use of long-acting reversible contraceptive intrauterine device immediately after cesarean delivery. The cesarean delivery rate in Iraqi public hospitals is 32.2% and may reach 85.8% in private hospitals. Immediate post-partum intrauterine device insertion at cesarean is rarely done in Iraq. Objectives To assess the safety and practicality of immediate post-partum intrauterine device insertion during cesarean delivery for family planning and pregnancy spacing in Iraqi women. Subjects and Methods A single arm clinical trial included 150 eligible women who attended Al-‎Elwiyah Maternity Teaching Hospital or Al Hayat Rahibat Hospital for term delivery. A copper intrauterine device was placed in the ute

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Day Case Tonsillectomy in Children
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Background: Day case surgery has become widely accepted as a safe alternative to the inpatient care in up to 70% of the cases at a children’s hospital. It has the advantage of minimizing the psychological trauma of hospitalization, decreasing nosocomial infection, less costly and frees up hospital beds.Objectives: To assess the advantages and disadvantages of this type of surgery.Methods: this is a prospective study, in which two hundred thirty childhood tonsillectomies were performed as a day-case in the department of otolaryngology at Al Shaheed Gazi hospital, Medical City Complex during the period from October 2009 to September 2010. The patients age range from 3-12 years (Mean 7.2 years).Results: 46.08% males and 53.91% females wer

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Publication Date
Sun Oct 15 2023
Journal Name
Bionatura
Nesfatin-1 is a biomarker that plays a role in the inflammatory process of coronary artery diseases in Iraqi patients with non-alcoholic fatty liver disease.
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Amis: NAFLD is considered to be the most common cause of liver conditions worldwide. Also, it is a primary reason that leads to coronary artery diseases, limiting blood flow to the heart. Therefore, This study aimed to evaluate the serum level of Nesfatin-1 and its ability to indicate the prognosis of CAD in patients with NAFLD. Material & Methods: one-hundred eighty Individuals were enrolled in the study, including In both genders, blood was collected from each Individual and sent to the laboratory for biochemical tests. Findings: Data from the current study showed a significant increase in Nesfatin-1 in the CAD group and a significant decrease in Nesfatin-1 in the NAFLD group compared to the control group. In addition, there w

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