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.
Honorifics are linguistic expressions which maintain social as well as religious respect to other people. They are linguistic techniques which express politeness to other interlocutors. Semantically speaking, honorifics are of two types: al-Laqab (title) and al-Kuniya (teknonyms) following a specific word order. They form part of the Arab recognitions and are mold into their social and communicative competence.
The study focuses upon religious and regional honorifics which convey deference and respect. It assumes that religious and cultural recognitions play vital roles in formulating and embedding the sense of honorifics. It is hypothesized that Arab people express respect to religious personalitie
... Show MoreThe insurance is considered as one of the sectors that is impact is vital to the national economy and development programs, Insurance companies as financial institutions have an effect an aspects of social, economic as well as the participation of enterprises in compensation for the risk potential losses and individuals, Insurance sector provides insurance service insurance which should be characterized by quality and satisfy needs and desires of the customer , so the raise insurance awareness in the community its members and institutions will help in maintaining the movement of production and service delivery standards, quality sought by the insured to obtain, as well as the development of promotional programs, and use
... Show MoreThe clinical response to natalizumab in patients with multiple sclerosis (MS) may be significantly influenced by genetic variation. Mutations in genes related to the drug’s mechanism of action or the pathological milieu of MS can contribute substantially to interindividual differences in treatment outcomes. This review aims to provide an overview of previous studies that have examined genetic polymorphisms associated with the clinical efficacy of natalizumab. A systematic literature search was conducted across the PubMed, Google Scholar, and ResearchGate databases using targeted keywords relevant to the subject matter. Several genetic loci were found to be linked to natalizumab responsiveness, including the integrin subunit alpha 4 (ITGA4
... Show MoreThis study was conducted to evaluate the efficiency of some chemicals and biological agents to induce systemic resistance (ISR) against to wheat common bunt disease caused by the two species of fungus Tilletia tritici (Bjerk.) Wint (T. caries (Dac.) Tul.) and T. laevis Kuhn (T. foetida (Wall.) Liro. Trails in the efforts to find an alternative, safe and environmentally friendly means to control the disease. Results of this study which carried out during two consecutive seasons for the years 2012 - 2013 and 2013 - 2014 at two different environmental locations. Seed treatment by (SA 100 and 200 mg/L, 500 ?–aminobutyric acid (BABA) and 1000 mg/L, Effective Microorganisms (EM1) 40 and 150 ml/kg seeds) have led to high significant redu
... Show MoreSeventy of Klebsiella pneumoniae isolates had been collected from some Hospitals in Baghdad city from October to December 2017. The 70 isolates were taken from diverse clinical specimens. All K. pneumoniae isolates were identified based on API 20 E and Vitek2 compact system. Antibiotics sensitivity test was carried out toward 10 antibiotics using discs diffusion method. The level of antibiotics resistance was 81.42% for Ceftriaxone, whereas the low level of antibiotics resistance was 37.14% for Piperacillin. K. pneumoniae isolates were typed genotypically by using two different methods of amplification, multiplex-PCR and enterobacterial repetitive intergenic consensus (ERIC)-PCR typing methods. Results showed that out of 70 isolates, there
... Show MoreParkinson’s disease (PD) consider as a progressive ageing neurodegenerative disease, Parkinson’s consider as a heterogenous disease, with mainly initiate through correlation between genetic and epigenetic by inducing of different factors on some related genes, these factors like (environmental, toxicants, nutrition, heavy metals, pesticides, some drugs) and also(trauma on head ,strokes) in addition to unknown reasons which cause an idiopathic PD .Current study aims to focusing on specific related PD gene called SNCA by single nucleotides polymorphism (rs2619363) as a risk factor for PD initiation disease in PD patients in addition to study the effect of polymorphisms on random Iraqi patients with different gastrointestinal
... Show MoreBackground: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber. Aim: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. Methods: Sixty eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design) in the Eye Specialty Private Hospital, Baghdad, Iraq were studied. The mean spherical refraction was -11.32±3.17 diopter (D) with a range of -6.00 to -18.00 D and a mean cylinder of -2.61±1.16 with range of -1.00 to -5.50 D. The outcome measures that evaluat
... Show MoreBackground: Currently there are four general approaches to correct refractive errors: refractive corneal surgery, crystalline lens surgery and implantation of an intraocular lens in anterior or posterior chamber.
Objective: To evaluate the predictability, safety and stability of toric phakic implantable collamer lens implantation to correct moderate to high myopic astigmatism. in Eye Specialty Private Hospital, Baghdad, Iraq.
Type of the Study: a prospective non randomize intervention study.
Methods: 60 eyes of 40 patients underwent implantation of a toric implantable collamer lens (V4c design).Mean spherical refraction was ₋11.32 diopter
... Show MoreThis study tries to clear the correlation and association between asthma, obesity and leptin levels. Also it will work to indicate the main risk factors which play role in the elevation of leptin level within asthmatic patients. This is a case control study conducted on (38) asthmatic patients and (20) healthy control who were closely similar by age, gender and BMI. The main statistical tests used were student t test, linear regression test and correlation test. Significance was set at P < 0.05. Sampling method used for this study was convenience sampling method. The main results of this study show a significant association and positive correlation between age (old age ≥ 40 ye
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