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.
Urine proteomics have been an area of interest and recently in Kala-azar as an alternative sample type for serum or plasma. Because of simplicity, noninvasiveness of collection and simpler matrix. Many studies had detected an increased protein excretion in the urine of patients with active Kala-azar due to renal involvement particularly by an immunological related mechanism(s). This study have demonstrated the presence of three different protein profiles in Iraqi children (Patients: including 60 children aged 4-60 months) with defined Kala-azar using the conventional SDS-PAGE on urine samples. Urine protein profile in Kala-azar patients revealed three groups of banding patterns: group-1(33.4)% of the patients show the pattern of 5
... Show MoreBackground: Colonic cancer is a very common disease world-wide being fourth most common cancer characterized by abnormal proliferation of the inner wall of colon then taking full colon wall thickness then spreading to surrounding lymph nodes and tissues and finally distant metastasis. It is one of most complicated diseases with debilitating symptoms which becomes more sever , prominent and specific with advancing stage with high percent of fatality and relatively short survival if diagnosed late or if left untreated.Objective: To evaluate the efficacy of serum CEA & sAPRIL levels in the diagnosis and screening of colon cancer and their validity for this.Patients and methods: This study was applied on 35 patients with colonic can
... Show MoreBreast cancer is a disease in which cells in the breast grow out of control. CD200 is a cell surface glycoprotein expressed on many cells, it belongs to the immunoglobulin family (Ig) and have a great role in the regulation of inflammation in autoimmunity. CD200 is the ligand for CD200R1 receptor. To determine if serum level of CD200 and its receptor CD200R1 can be used as a diagnostic and prognostic marker in patients with breast cancer.This case control study was carried out at Oncology Teaching Hospital – Medical city in Baghdad. Six groups were enrolled, four groups were confirmed with breast cancer stage (I, II, III and IV), fifth group (benign) and sixth group was control (healthy individual). Serum is divided to me
... Show Moreيتنامى يوما بعد يوم استخدام السيارات وتتعاضم اعدادها ، فهذا هو عصر السرعة، وخاصة في مجال النقل والمواصلات، والتي تتحقق باستخدام وسائل النقل المختلفة ومن بينها السيارات، وبالتالي اصبحت هذه الوسيلة ضرورية لتحقيق هذه السرعة ومن ضرورات الحياة في انجاز الاعمال.
وتتبارى مصانع السيارات فيما بينها لانتاج انواع السيارات بمواصفات عالية من المتانة والامان والراحة، وفي ذات الوقت اصبحت هندسة الطرق
... Show MoreBackground: Mycoplasma pneumoniae (M. pneumoniae) is an important respiratory bacterial pathogen, especially among children. It causes acute upper and lower respiratory infections.Objective: This study was aimed to measure anti- M. pneumoniae antibodies among hospitalized children who were admitted to hospital diagnosed with acute respiratory tract infections.Method: Automated ELISA technique was performed to detect anti- M. pneumoniae antibodies (IgM and IgG antibodies) in serum from 108 children less than 5 years old. The children were admitted to the Pediatric Teaching Hospital in Suleimani city/Kurdistan Region/Iraq because of acute respiratory tract infections. A questionnaire was designed to collect demographic and clinical data fr
... Show MoreThis work concentrates on the effect of a flex-skin trailing edge flap on the aerodynamic characteristics of SD7037 airfoil at low Reynolds numbers, in the range of 2^10 to 5^10 using computational methods. The study used a range of angle of attack (AOA) associated with the take-off phase and different flap angles. The numerical model was set up in Siemens STAR-CCM+ package using the κ-ω shear stress transport turbulence model and the (γ-Reθ) transition model which ensured the approximate solution of Navier-Stokes equations. The verification of the computational solution was done by the comparison with the available experimental data of the plain flap, and it was discovered that the results matched pretty well at lower AoAs. Results in
... Show MoreThis study outlines the synthesis of substituted 1,2,4-triazole derivatives through the cyclization reaction of thiourea derivatives. The process begins with the reaction of different halides with KSCN to produce isothiocyanate derivatives. then followed by a reaction with isonicotinic acid hydrazide to yield thioureas (1-6), with a yield rate of (72-88%). Then, compounds (1-6) were treated with alkaline medium 4 N (NaOH) to produced 1,2,4-triazole derivatives (7-12) with a yield (51-69%).The structure of the prepared compounds was characterized using FTIR,1HNMR and 13CNMR spectroscopy. Some of the synthesized compounds were tested for antimicrobial activity when, compound 9 showed strong activity against gram positive bacteria (Sta
... Show MoreThis research is addressing the effect of different ferrocene concentration (0.00, 2.15x10-3, 4.30x10-3, 8.60x10-3, and 12.9x10-3) on the bulk free radical polymerization of methyl methacrylate monomer in benzene using benzoyl peroxide as initiator. The polymerization was conducted at 60º C under free oxygen atmosphere. The resulting polymers were characterized by FTIR. The results were compared with the presence and absence of ferrocene at 10% conversion. The %conversion was 3.04% with no ferrocene present in the polymerization medium and its increase to 9.06 with a first lowest ferrocene concentration added, i.e. 2.15 x10-3mol/l. This was positively reflected on the poly(methyl methacrylate) molecular weight measured by viscosity techniq
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