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.
Background: The liver is one of the most common organs
injured after blunt abdominal trauma. The control of severe
hemorrhage remains a problem.
Methods: One-hundred thirty-eight patients diagnosed as
liver injury between 09/2003 and 08/2006 had been evaluated
prospectively in Al- Kindy Teaching Hospital.
A distinction was made between hemodynamically stable and
unstable patients. Different modalities of surgical procedures
were done concentrating on perihepatic gauze packing.
Results: (60 out of 138) patients included in the study were
clinically evaluated as hemodynamically stable. The average
abbreviated injury severity score (ISS) was 25. Twenty
patients underwent abdominal surgery. In 12 of them
Background: Interleukin-6 (IL-6) is a cytokine that has several functions, including stimulating growth and inhibiting cell death. It has the potential to operate as a biomarker for the accurate prediction of disease severity and activity, platelets-rich plasma was used in the treatment of oral lichen planus and can change the salivary IL-6 level.
Objectives: To study the clinical outcome of intralesional platelets-rich plasma in patients with oral lichen planus and to measure salivary IL-6 levels before and after the treatment with platelets-rich plasma were the aims of this study.
Subjects and Methods: In this clinical trial, for each patient a standardi
... Show MorePsoriasis is a complex autoimmune disorder characterized by skin inflammation with keratinocyte proliferation, and 85% of cases present as plaque-type psoriasis. Biologics such as ustekinumab (UST) are highly successful therapies for psoriasis. To achieve maximum clinical efficacy while minimizing undesirable effects, therapeutic drug monitoring (TDM) for biologics has emerged. This study aims to measure the UST trough level (TL) and anti-drug antibodies (ADAs) and to evaluate clinical response in Iraqi patients with moderate-to-severe psoriasis in order to make appropriate recommendations for modifying therapy. This cross-sectional study enrolled 75 patients, divided into two groups: Group 1, patients who achieved the UST target TL (≥0.6
... Show MoreObjective: We hypothesized that attacking cancer cells by combining various modes of action can hinder them from taking the chance to evolve resistance to treatment. Incorporation of photodynamic therapy (PDT) with oncolytic virotherapy might be a promising dual approach to cancer treatment. Methods: NDV AMHA1 strain as virotherapy in integration with aminolaevulinic acid (ALA) using low power He-Ne laser as PDT in the existing work was examined against breast cancer cells derived from Iraqi cancer patients named (AMJ13). This combination was evaluated using Chou–Talalay analysis. Results: The results showed an increased killing rate when using both 0.01 and 0.1 Multiplicity of infection (MOI) of the virus when combined with a dose of 617
... Show MoreThe adequacy of diagnostic tests, together with trichomoniasis associated clinical symptoms, were investigated in females suffering vaginitis, and they were referred to the Gynecology Department, Al-Yarmouk Teaching Hospital during the period December 2004 – June 2005. The total number of patients was 250 cases (age range: 18 - 52 years), and each patient was examined using a sterile speculum to obtain vaginal swabs for examination. The diagnosis with T. vaginalis was done in many methods. The direct methods included wet and stained (Leishman's stain) examinations and cultivation in different culture media (Kupferberg Trichomonas Broth Base;, Trichomonas Agar Base; TAB and Trichomonas Modified CPLM), while the indirect methods were serol
... Show Moreبسبب محدودية الموارد الطبيعية، فأن سكان الخليج ومنذ القدم وجهوا جلّ نشاطاتهم توجهاً بحرياً: صيد الاسماك وصناعة اللؤلؤ العنصر الرئيس في حجم التشغيل، وتكوين الفائض الاقتصادي في المنطقة آنذاك.
لقد تزايدت أهمية هذا النشاط بخاصة بعد النصف الثاني من القرن التاسع عشر، لرواج تجارة اللؤلؤ عالمياً، وأنفتاح الخليج على الدول الاوروبية التي شهدت نهضة صناعية متسارعة، وحيث وصلت الخليج العديد من بضائع
... Show MoreAbstract:
This study aims to identify the level of patients’ satisfaction among a sample of hospitalized patients in the targeted hospital (Al-Kindy Teaching Hospital, and Al-Yarmook Teaching Hospital). Moreover, this study highlights the reality of services for patients, especially in the targeted governmental teaching hospitals. The Patient Satisfaction with Nursing Care (PSNCS) has been measured in these hospitals through the revised scale by Tang et al, (2013).This scale includes four major domains; Health Information (5 items), Influencing Support (4 items), Decision Control (4 items), Specialized Technical Competence (7 items). The method of surveying patients’ opinions about the degree
... Show MoreThere is a variety of artificial foot designs variable for use with prosthetic legs . Most of the design can be divided into two classes, articulated and non-articulated feet. one common non-articulated foot is the SACH . The solid ankle cushion heel foot referred to as the SACH foot has a rigid keel .
One key or the key factor in designing a new prosthesis is in the analysis of a patients response .
This view is the most important because if the foot does not provide functional , practical or cosmetically acceptable characteristics the patient will not feel comfortable with the prosthesis , therefore design and manufacturing a new foot is essential, this foot made from polyethylene, its different shape and characte
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