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.
Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig
... Show MoreKE Sharquie, AA Noaimi, AH Muhammad Ali, 2008 - Cited by 3
Thirteen isolates were collected from various clinical sources during the periodfrom 22/10/2017 to 22/12/2017. All the isolates were diagnosed based on the microscopic and biochemical propertiesby Vitek-2 Compact system. All isolates formed biofilm 100%, with 30% of isolatesbiofilm produced strongly and 70% on medium. The results of the present study have shown the presence of Curli fimbriae genes in E. cloacae bacteria from cases of urinary tract infections, infected patient with blood bacteremia and inflammation of wounds. Curli fimbriae is considered to be an important factor in the virulence of E.cloacae bacteria, which plays an important role in adhering and combining cells on solid surfaces to form the biofilmand helps in the adhesion
... Show MoreBackground: The Andrews’ six keys of normal occlusion contribute individually and collectively to the total scheme of occlusion and, therefore, are viewed as essential to successful orthodontic treatment. The present research aims to evaluate the presence of the parameters of the Andrews’ Six Keys of normal occlusion in a sample of 100 Iraqi adults with complete permanent dentition and clinically acceptable normal occlusion (Angle’s Class I) in Baghdad city. Their age range 18-25 years (60 males and 40 females). Materials and methods: Each patient was subjected to clinical examination and then study cast models were made, with their occlusal records. The measuring tools that have been used involved: Three-dimensional goniometer to me
... Show MoreObjectives: To study the prevalence of rs1799964 (-1031 T/C) and rs361525 (- 238 G/A) SNPs and their effect on the disease activity, severity, and cytokines production in newly diagnosed Iraqi rheumatoid arthritis patients. Patients and Methods: sixty-three patients were diagnosed by a specialist physician while attending the rheumatology unit and twenty control participated. The inflammatory markers were measured and PCR amplification and sequencing were performed to demonstrate TNF-α SNPs. Results: Regarding (-1031 C/T) SNP, the TT genotype and allele C were significantly present in the controls, and the CT genotype was distributed significantly in the patients. The TT genotype was mostly distributed in the mild-moder
... Show MoreAnemia of chronic disease (ACD) and iron deficiency anemia (IDA) are the two most important types of anemia in rheumatoid arthritis (RA). Functional iron deficiency in ACD can be attributed to overexpression of the main iron regulatory hormone hepcidin leading to diversion of iron from the circulation into storage sites resulting in iron-restricted erythropoiesis. The aim is to investigate the role of circulating hepcidin and to uncover the frequency of IDA in RA. The study included 51 patients with RA. Complete blood counts, serum iron, total iron binding capacity, ferritin, and hepcidin- 25 were assessed. ACD was found in 37.3% of patients, IDA in 11.8%, and combined (ACD/IDA) in 17.6%. Serum hepcidin was higher in ACD than in con
... Show MoreBACKGROUND: Hepatocyte growth factor (HGF) is a proangiogenic factor that exerts different effects over stem cell survival growth, apoptosis, and adhesion. Its impact on leukemogenesis has been established by many studies. AIM: This study aimed to determine the effect of plasma HGF activity on acute myeloid leukemia (AML) patients at presentation and after remission. PATIENTS AND METHODS: This was a cross-sectional prospective study of 30 newly-diagnosed, adult, and AML patients. All patients received the 7+3 treatment protocol. Patients’ clinical data were taken at presentation, and patients were followed up for 6 months to evaluate the clinical status. Plasma HGF levels were estimated by ELISA based methods in the pa
... Show MoreThis study focused on the improvement of the quality of gasoline and enhancing its octane number by the reduction of n-paraffins using zeolite 5A. This study was made using batch and continuous mode. The parameters which affected the n-paraffin removal efficiency for each mode were studied. Temperature (30 and 40 ˚C) and mixing time up to 120 min for different amounts of zeolite ranging (10-60 g) were investigated in a batch mode. A maximum removal efficiency of 64% was obtained using 60 g of zeolite at 30 ˚C after a mixing time 120 min. The effect of feed flow rate (0.3-0.8 l/hr) and bed height (10-20 cm) were also studied in a continuous mode. The equilibrium isotherm study was made using different amounts of zeolite (2-20 g) and the
... Show MoreBackground: Rheumatoid arthritis (RA) is a chronic and systemic autoimmune disease that is characterized by severe synovial inflammation, cartilage erosion, bone loss, and generalized vasculopathy. Although the immunologic mechanism of RA is still unclear, it is now thought to be a primarily Th17-driven disease. Along with other factors, IL-23 stimulates the expansion of Th17 cells from naive CD4+ T cells.
Objective: The objective of this study is to assess the circulating levels of interleukin (IL)-23 in rheumatoid arthritis (RA) and determine the correlation between plasma/serum IL-23 levels and disease activity. So, we performed a systematic review with meta-analysis comparing
... Show MoreBackground: Corona virus disease 2019 (COVID-19) is a communicable disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It was first identified in December 2019 in Wuhan, China, and has since spread globally, leading to an ongoing pandemic.
Aim of study: to review the clinical, lab investigation and imaging techniques, in pediatric age group affected COVID-19 to help medical experts better understand and supply timely diagnosis and treatment.
Subjects and methods: this study is a retrospective descriptive clinical study. The medical records of patients were analyzed. Information’s recorded include demographic data, exposure history, symptoms, signs, laboratory findin
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