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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
Sun Jul 06 2025
Journal Name
Jordan Medical Journal
Enhancing Adherence and Satisfaction with Disease-Modifying Therapies in Multiple Sclerosis Through Pharmacist-Led Interventions: Interventional Study
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Background: Pharmacists are essential in treating MS. Pharmacists' involvement and patient consultation may improve patient adherence and satisfaction. Aim: To evaluate the influence of pharmacist-led interventions (PLI) on medication adherence and satisfaction in patients with multiple sclerosis receiving disease-modifying therapies (DMTs). Methods: This study was conducted on patients with relapsing-remitting multiple sclerosis who were receiving DMTs and attended a neurological consultant clinic in the medical city of Baghdad. It was a pre-post-intervention study. Each patient underwent two educational sessions: the first session took place at the beginning of the study, after completing the Arabic version of the treatment satisfaction q

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Publication Date
Wed Nov 01 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Effectiveness of Myoinositol alone or in Companion with Metformin in Improving Hormonal, Metabolic, and Clinical Features of PCOS Women
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Polycystic ovary syndrome (PCOS) referring to a syndrome that is recognized as a life-course disease and has both metabolic and reproductive signs; main pathophysiological cause includes insulin resistance, hyperandrogenism, and oxidative stress state. The study aimed to assess the impact of combining Myoinositol and Metformin, the main insulin-sensitizing drugs, on improving clinical, metabolic, and hormonal parameters in females with PCOS. A clinical trial that was prospective, randomized, and comparative on 54 patients (aged 18-40 y) are divided into three groups: group1 patients allocated to receive Myo-inositol(4g), group2 patients assigned to receive Metformin(1g) and group3 patients assigned to receive Myo-inositol(4g) + Metformin

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Publication Date
Thu Sep 12 2019
Journal Name
Al-kindy College Medical Journal
Outcome of surgical untethering of tethered cord syndrome in adults due to spina bifida occulta
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Background:. Children with spina bifida occulta require early surgery to prevent neurological deficits. The treatment of patients with a congenitally tethered cord who present in adulthood remains controversial.

Objective: The aim of this study is to describe the outcome obtained in 61 adult patients with congenital TCS and no prior surgical treatment who underwent surgical untethering.

Methods: This prospective study was conducted on 61 adult patients who underwent surgical untethering for spina bifida occulta at four neurosurgical centers in Baghdad / Iraq  between March 2000 and January 2018. Patients who had undergone prior myelomeningocele repair or tet

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Publication Date
Mon Aug 15 2022
Journal Name
International Journal Of Science& Research Archive
Nonalcoholic fatty liver disease in a group of Iraqi obese children attending children welfare teaching hospital
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Nonalcoholic fatty liver disease in a group of Iraqi obese children attending children welfare teaching hospital

Publication Date
Fri Oct 01 2010
Journal Name
2010 Ieee Symposium On Industrial Electronics And Applications (isiea)
Distributed t-way test suite data generation using exhaustive search method with map and reduce framework
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Publication Date
Wed Aug 30 2023
Journal Name
Al-kindy College Medical Journal
Comparative Study between RIPASA Scoring System and ALVARADO Scoring System in Diagnosing Acute Appendicitis in Adults
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Background: Acute appendicitis is regarded as one of the most common inflammation that needs surgical intervention. Different scoring systems have been used for diagnosing of acute appendicitis. ALVARADO score is one of the most widely used score in diagnosing of acute appendicitis, but the accuracy of the latter is insufficiently low in Middle-East patients. Thus a new scoring system called RIPASA score has been designed for diagnosing of acute appendicitis in those patients. The aim of this study is to use RIPASA score and compare its result with ALVARADO score in diagnosing of acute appendicitis.

Subjects and Methods: The study includes 200 patients with symptoms and signs of

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Publication Date
Mon Jun 11 2018
Journal Name
Internationaljournalofresearchinpharmaceuticalsciences
Treatment satisfaction with disease-modifying therapy in relapsing-remit-tingmultiple sclerosis in Iraq
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Multiplesclerosis(MS)isachronic,inflammatory,immune-mediateddiseaseof the central nervous system (CNS). More than 2 million people worldwidehave MS. The goal of the present study was to compare Iraqi patients' treat-ment satisfaction with three different disease-modifying therapies (DMTs),administeredorally,subcutaneously,andbyslowinfusion;namely,fin-golimod, interferon beta-1b (IFNβ-1b), and natalizumab, respectively. Aswell as to assess the individual differences among these therapies about theireffectiveness, convenience and global satisfaction also to assess the role ofcertain predictors on treatment satisfaction. Patient satisfaction with medi-cation assessed by the Treatment Satisfaction Questi

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Publication Date
Wed Apr 20 2011
Journal Name
Journal Of Al-qadisiyah For Computer Science And Mathematics
Chaos in a harvested prey-predator model with infectious disease in the prey
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A harvested prey-predator model with infectious disease in preyis investigated. It is assumed that the predator feeds on the infected prey only according to Holling type-II functional response. The existence, uniqueness and boundedness of the solution of the model are investigated. The local stability analysis of the harvested prey-predator model is carried out. The necessary and sufficient conditions for the persistence of the model are also obtained. Finally, the global dynamics of this model is investigated analytically as well as numerically. It is observed that, the model have different types of dynamical behaviors including chaos.

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Publication Date
Mon May 04 2020
Journal Name
Biochemical And Cellular Archives
MOLECULAR AND HEMATOLOGICAL STUDY OF TOXOPLASMA GONDII IN HORSES
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Publication Date
Sun Jul 01 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
ESTIMATION OF GENETIC VARIATIONS IN DIFFERENT TAXA IN BRASSICACEAE BY RAPD AND ISSR ANALYSIS
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Twelve species from Brassicaceae family were studied using two different molecular techniques: RAPD and ISSR; both of these techniques were used to detect some molecular markers associated with the genotype identification. RAPD results, from using five random primers, revealed 241 amplified fragments, 62 of them were polymorphic (26%).

 

    ISSR results showed that out of seven primers, three (ISSR3, UBC807, UBC811) could not amplify the genomic DNA; other primers revealed 183 amplified fragments, 36 of them were polymorphic (20%). The similarity evidence and dendrogram for the genetic distances of the incorporation between the two techniques showed that the highest similarity was 0.897 between the va

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