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.
Today, the architecture field is witnessing a noticeable evolution regarding the used tools that the designer should invest in a peculiar way that is made available in architecture through the concept of synergy generally and algorithmic synergy specifically. The synergy is meant to study and analyze the cooperative behavior of complex systems and self-organizing systems that leads to different outputs referred to by the synergy as the (whole), which is bigger than the sum of parts and in architecture, it's translated as the architectural form. This point resulted in a need of a specific study regarding the concept of synergy that focuses on the cooperative, synergistic relations within the trilogy of (form, structure, and material) and
... Show MoreThe Sequencing Batch Reactor system (SBR) is a major component of the municipal wastewater biological treatment system and water reclamation that provides high-quality water that could be reused in restricted plants that which require large quantities of water despite the lack of water. The research aims to investigate the performance of a pilot plant SBR unit under real operation conditions that was installed and operated in Al-Rustamiya Wastewater Treatment Plant (WWTP), Baghdad, Iraq. Results showed that the BOD5/COD ratio of the raw wastewater was within the average value at 0.66 emphasizing the organic nature of the influent flow and hence the amenability to biological treatment. The results also ensured that the treatment pro
... Show MoreBackground: Coronavirus disease 2019 (COVID-19) is an emerging zoonotic disease caused by the new respiratory virus SARS-CoV2. It has a tropism in the lung tissues where excess target receptors exist. Periostin plays a role in subepithelial fibrosis associated with bronchial asthma. Since the Coronavirus's target is the human respiratory system, Periostin has been recently described as a valuable new biomarker in the diagnosis and evaluation of disease in patients with COVID-19 lung involvement. Objectives: To assess the level of Periostin in the serum of COVID-19 patients and to correlate its role in disease severity and prognosis. Subjects and Methods: Periostin serum levels were measured for 63 patients attending three main COVID
... Show MoreSusceptibility to the pandemic coronavirus disease 2019 (COVID-19) has recently been associated with ABO blood groups in patients of different ethnicities. This study sought to understand the genetic association of this polymorphic system with risk of disease in Iraqi patients. Two outcomes of COVID-19, recovery and death, were also explored. ABO blood groups were determined in 300 hospitalized COVID-19 Iraqi patients (159 under therapy, 104 recovered, and 37 deceased) and 595 healthy blood donors. The detection kit for 2019 novel coronavirus (2019-nCoV) RNA (PCR-Fluorescence Probing) was used in the diagnosis of disease.
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
... Show MoreTo determine the relationship between Helicobacter pylori infection and skin disorders, sixty six patients who suffering from skin diseases include chronic urticarial (CU) and atopic dermatitis (AD) who attended at Dermatological Clinic/ Al-Numan Teaching Hospital from the beginning of October 2015 to the end of January 2016 with age (6-62) have been investigated and compared to twenty two samples of apparently healthy individuals were studied as control group. All the studied groups were subjected to measurement of antiHelicobacter pylori IgG antibodies by enzyme linked immuno sorbent assay (ELISA) and detection of 16S rRNA and CagA genes by using singleplex and multiplex PCR methods. The results of current study revealed that there was a
... Show MoreThe present study was set to investigate the potential association between the level of Interleukin-6 (IL-6), as a key component of the pro-inflammatory response, with different thalassemia’s biological and clinical features. For this purpose, one hundred fifty blood samples were collected from 100 beta-thalassemia patients, who attended the Genetic Hematology Centre at Ibn Al- Baladi Hospital in Baghdad, Iraq, and 50 healthy subjects who were employed as a control group. IL-6 levels were estimated using an ELISA Kit, whereas other thalassemia-related clinical features (such as HbA, HbF, ferritin, blood transfusions, splenectomy status, and the history of frequent infection) were additionally assessed. The results of the present s
... Show MoreThe haplotype association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease.Such an analysis typically involves a list of unphased multiple-locus genotypes with potentially sparse frequencies in cases and controls.It starts with inferring haplotypes from genotypes followed by a haplotype co-classification and marginal screening for disease-associated haplotypes.Unfortunately,phasing uncertainty may have a strong effects on the haplotype co-classification and therefore on the accuracy of predicting risk haplotypes.Here,to address the issue,we propose an alternative approach:In Stage 1,we select potential risk genotypes inste
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