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.
This study focuses on the writing skill which is a social act .Students need to express
themselves in writing, but students of History and Geography departments are poor in
writing. This study aims at identifying and classifying the errors committed by the
students, and then giving remedies.
Writing can be considered as a channel or as a goal of language learning.
Students learn to write in a foreign language. Writing as a goal basically focuses on
the development of writing skills to fulfill such purposes as note-taking, summarizing,
narrating, reporting and replying required for various real-life situation
(Mechalakelli,2007)
Students at Departments of Geography and History study English as a part of
their
Diabetes mellitus is a set of metabolic diseases, the most prevalent of which is chronic hyperglycemia. The culprits include insulin synthesis, insulin action, or both. Osteoporosis is a progressive systemic skeletal disorder defined by decreased bone mass and micro architectural degeneration of bone tissue, resulting in increased bone fragility and fracture risk, according to the World Health Organization (WHO). The degree of Nervosa damage determines how much a diabetic patient's body has been compromised. The current study's goal is an estimation: Age, BMI, FBS, HbA1C, D3, ALP, Ca, P, and Osteocalcin in Iraqi T2DM Women's patients with and without Osteoporosis. Three vitamins are required for Osteocalcin biosynthesis: vitamin K for Gla f
... Show MoreBackground: EOS (encoded by the IKZF4 gene) is a member of the zinc finger transcription factor IKaros family, and plays a critical role in Treg suppressor functions, and maintaining Treg stability. IL-6 is a soluble mediator with a pleiotropic effect on inflammation, immune response, and hematopoiesis. Aim: To estimate serum IL-6 level and EOS gene expression in Iraqi patients with psoriasis. Method: Twenty-two patients with psoriasis (8 females, 14 males) with age ranged 18-72 years, were recruited from Baghdad Teaching Hospital, Dermatology Clinic, Baghdad, and 24 healthy donors. The serum levels of IL-6 by ELISA and the gene expression of IKZF4 (EOS gene) by RT-qPCR technique. Results: The results showed a non-significant diffe
... Show MoreThis study aims to isolate the pathogenic yeasts from genital tract and investigate their relationship with the age .The results clarified that the most pathogenic yeast isolated from genital tract was Candida albicans , also the results of C.albicanas isolates susceptibility test, to different antifungal revealed that they were sensitive to Miconazole, Ketoconazole and Clotrimazol and were resistant to Nystatin and Grisofulvin. The study of relationship of vaginal infection with the age showed that the incidence of infection with Candida was high among females age group (19-39 years).
Diabetic nephropathy is characterized by persistent microalbuminuria and metabolic changes that decline renal functions. Researchers have been prompted to explore new biomarkers such as KIM-1 and nephrin that may enhance the identification of disease. Objective: To Evaluate biomarker levels of kidney injury molculre-1 (KIM-1) concentration and nephrin as early and sensitive markers of nephropathy in type 2 diabetic patients. Method: One hundred T2DM patients were included in a cross-sectional study at the specialized center for endocrinology and diabetes, Baghdad. The first group includes 50 diabetic nephropathy (DN) patients, and the second group includes 50 T2DM patients without DN. Biochemical and clinical parameters were reported for pa
... Show MoreObjectives To determine the prevalence of oral lesions by age and gender among the pediatric population in Iraq. Materials and methods A review of the archives of the oral pathology department of Baghdad University from, 1970 Materials and Methods: A review of the archives of the oral pathology department of Baghdad University from 1970 to 2013 for all biopsies from children aged 0–15 years old. Results A total of 1286 child specimens represented 11.98% of all biopsied lesions. The pyogenic granuloma was the most frequent lesion in children, and the periapical cyst was the most frequent lesion from an odontogenic origin. The incidence of malignant lesions was higher in the 0–3 age group than other groups. Conclusions The majority of les
... Show MoreThe agricultural sector suffers from many risks and natural disasters, such as droughts and heavy rains that cause floods, as well as hail and agricultural pests, etc., that threaten agricultural activity and reduce it, which leads to the failure of farmers and peasants for fear of being subjected to continuous losses. Nevertheless, we notice almost complete reluctance to move towards agricultural insurance, due to the dependence of farmers on the government, which adopts the principle of compensation instead of agricultural insurance when natural disasters happen despite the difficulties and financial hardship as well as the suspicion of corruption that haunt the compensation process and this represents the most important problem for resea
... Show MoreInsulin like growth factor-1 has metabolic and growth-related roles all over the body and is strongly associated and regulated by growth hormone. It is produced by almost any type of tissue, especially the liver. The study aimed to measure insulin like growth factor in growth hormone deficient patients and find its relation with other studied parameters. The Subjects in the study were 180 studied in the National Diabetic Center for Treatment and Research/Al-Mustansiriya University in Baghdad/Iraq for the period from November 2021 to April 2022. Blood was drawn and investigated for the levels of IGF-1, IGFBP-3, LH, and FSH. Also testosterone and statistical analysis was carried out to find the potential correlations. The results relived t
... Show MoreBackground: Healing of a tooth extraction socket is a complex process involving tissue repair and regeneration. It involves chemotaxis of appropriate cells into the wound, Transformation of undifferentiated mesenchymal cells to osteoprogenitor cells, proliferation and differentiation of committed bone forming cells, extracellular matrix synthesis, mineralization of osteoid, maturation and remodeling of bone. These cellular events are precisely controlled and regulated by specific signaling molecules. Some of these like transforming growth factor beta (TGF-?), vascular endothelial growth factor (VEGF), bone morphogenetic proteins (BMP) and insulin like growth factors (IGF) are well conserved proteins involved in the initial response to injur
... Show MoreUsing the Internet, nothing is secure and as we are in need of means of protecting our data, the use of passwords has become important in the electronic world. To ensure that there is no hacking and to protect the database that contains important information such as the ID card and banking information, the proposed system stores the username after hashing it using the 256 hash algorithm and strong passwords are saved to repel attackers using one of two methods: -The first method is to add a random salt to the password using the CSPRNG algorithm, then hash it using hash 256 and store it on the website. -The second method is to use the PBKDF2 algorithm, which salts the passwords and extends them (deriving the password) before being ha
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