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.
Objective: Geographic differences in clinical and pathological aspects of ameloblastoma have been suggested, therefore the purpose of this study was to analyze cases of ameloblastoma in terms of clinical and radiographic manifestations, histopathological types, treatment modalities and recurrence rate and compare them with reports from other parts of the world. Methods: The medical reports of patients diagnosed with ameloblastoma were reviewed and the data concerning the age, gender, chief complaint, the anatomical site of the lesion, radiographic appearance, histopathological diagnosis, treatment approach and recurrence were retrieved. Surgical treatment consisted of either enucleation with curettage and peripheral ostectomy or resection;
... Show MoreBackground: The association between facial types and dental arches forms has considerable implications in orthodontic diagnosis and treatment planning. The aim was to establish the maxillary and mandibular dental arches width and length in skeletal and dental class II division 1 and class III malocclusion groups, find out the most frequent dental arch form and facial type and the association between them and to check the gender differences. Materials and Methods: Frontal and lateral facial photographs and maxillary and mandibular occlussal photographs for 90 iraqi subjects with age 18-25 years old (45 males and 45 females) divided equally into three groups, the 1st group with class II division 1malocclusion (overjet more than 3mm but less t
... Show MoreStart your abstract here the objective of this paper is to study the dynamical behaviour of an eco-epidemiological system. A prey-predator model involving infectious disease with refuge for prey population only, the (SI_) infectious disease is transmitted directly, within the prey species from external sources of the environment as well as, through direct contact between susceptible and infected individuals. Linear type of incidence rate is used to describe the transmission of infectious disease. While Holling type II of functional responses are adopted to describe the predation process of the susceptible and infected predator respectively. This model is represented mathematically by
Automatic Programming Assessment (APA) has been gaining lots of attention among researchers mainly to support automated grading and marking of students’ programming assignments or exercises systematically. APA is commonly identified as a method that can enhance accuracy, efficiency and consistency as well as providing instant feedback on students’ programming solutions. In achieving APA, test data generation process is very important so as to perform a dynamic testing on students’ assignment. In software testing field, many researches that focus on test data generation have demonstrated the successful of adoption of Meta-Heuristic Search Techniques (MHST) so as to enhance the procedure of deriving adequate test data for efficient t
... Show MorePumping a BBO crystal by a violet diode laser with a wavelength of (405 nm) output power of (24 mW) and a line width of (3nm) was employed to generate entangled photons with a wavelength of 810 nm by achieving type II phase matching conditions.The coincidence count rate obtained in this experiment was in the range of (18000) counts/s. Two BBO crystals with different thicknesses of (4 mm and 2 mm) were tested, where maximum count rates of about (18000) counts/s was obtained with a (5*5*2) mm BBO crystal where the short coherence time for the pumping source was tolerated by using shorter BBO crystals. Also, the effect of compensating crystal on the walk-off effect was studied. The coincidence count rates were increased by using these crystal
... Show MoreNon-alcoholic fatty liver disease (NAFLD), characterized by hepatic fat accumulation in individuals consuming little or no alcohol, has become highly prevalent globally. Oxidative stress plays a central role in instigating inflammation and cell death pathways driving NAFLD progression. This case–control study aimed to elucidate the association between circulating levels of the pivotal non-enzymatic antioxidants – coenzyme Q10 and vitamins E and C – and liver injury parameters among 60 Iraqi NAFLD patients versus 30 healthy controls. NAFLD diagnosis entailed over 5% hepatic steatosis on ultrasound excluding other etiologies. Patients spanned three age groups: 20–29, 30–39, an
Human herpes virus-8 (HHV-8) infection has increased recently in Arabic countries. HHV-8 in healthy persons does not necessarily cause life-threatening infection, and however, it causes a more severe infection among immunocompromised patients. The distribution of HHV-8 genotypes varies according to ethnicity and depends on the geographic region prior rapid development of global travel. A cross sectional prospective study included a hundred healthy blood donor samples with a mean age of (36.60±10.381), 81% were positive for molecular detection of HHV-8 DNA. PCR results for HHV-8 were strongly related with risk factors such as the number of sexual relations, previous surgeries, blood transfusion, dental operation, and the number of b
... Show MoreCeliac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chromatography using DEAE- cell
... Show More