Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
The treatment of migraine headache targets the neurovascular mechanism and involves the use of serotonin receptor antagonists. Some of these drugs are used for the treatment of acute attacks; while others are effective as prophylactic measures to decrease the duration and frequency of attacks. Pizotifen, a 5-HTA antagonist, is one of the prophylactic drugs for which the clinical use resulted in low outcomes in reducing migraine symptoms. Melatonin, a serotonin derived neurohormone, was reported to exert many functions like sleep induction, anti-inflammatory, neurovascular regulation, cytoprotection and modulation of neurotransmitter release. In the view of the involvement of serotonin in the pathophysiology of migraine a
... Show MoreNear-ideal p-CdS/n-Si heterojunction band edge lineup has been investigated for the first time with aid of I-V and C-V measurements. The heterojunction was manufactured by deposition of CdS films prepared by chemical spray pyrolysis technique (CSP) on monocrystalline n-type silicon. The experimental data of the conduction band offset Ec and valence band offset Ec were compared with theoretical values. The band offset Ec=530meV and Ev=770meV obtained at 300K. The energy band diagram of p-CdS/n-Si HJ was constructed. C-V measurements depict that the junction was an abrupt type and the built-in voltage was determined from C-2-V plot
The use of Bayesian approach has the promise of features indicative of regression analysis model classification tree to take advantage of the above information by, and ensemble trees for explanatory variables are all together and at every stage on the other. In addition to obtaining the subsequent information at each node in the construction of these classification tree. Although bayesian estimates is generally accurate, but it seems that the logistic model is still a good competitor in the field of binary responses through its flexibility and mathematical representation. So is the use of three research methods data processing is carried out, namely: logistic model, and model classification regression tree, and bayesian regression tree mode
... Show More40 blood sample were taken from children infected with kala-azar at age less than ten years, who were admitted to El-Eskan child hospital, and central health laboratory in Baghdad. At the same time 15 sample collected from healthy child for comparing. During research estimated immunoglobulins level ( IgG, IgM, IgA) and (IFAT) IFAT test recorded a higher indicate antibodies level witch was synergistic with infected severity, the stander level of antibodies arrange between 1/16, 1/32 and 1/64 that means it graduate from the lowest one 1/16 into the highest one 1/64 within groups. During infectious the IgG ,IgM level recorded the higher level (2012.9 mg/dl) and (154.3 mg/dl) compared to the control group (874.3 mg/dl),
... Show Moreprotein oxidation through oxidative stress, which represents the overall status of the protein in the cell/tissue. Due to their increased levels of AOPPs were reported during T2DM. The aim of this study was to assess AOPP level in T2DM subjects with foot ulcer (DFU) and explore its correlation with infection. Type 2 diabetic patients (n=108) and healthy subjects (n=25) were enrolled in this study. The T2DM group was subdivided to diabetic patients without complications (n=25) and eighty-three (83) of them have diabetic foot. They were sub- grouped into two groups according to presence Osteomyelitis and abscess, and in reliance on medical analysis of WBC count and CRP. Group of diabetic without superficial or deep ulcer and no osteomyelitis
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