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 present research is concerned with the way in which different dialects interact with each other in contemporary sculpture through the use of the metaphor for various shapes, meanings and materials and placing them in contexts that conflict with the familiar. These attempts come in harmony with the spirit of the times in seeking exoticism, surprise and splendor as a means of renewal. modern Art . Therefore, the research was divided into four axes, the first of which included the research problem, its importance and its aim, which is to attempt to uncover the metaphorical metaphorical relational mechanism in modern sculpture. The second axis included the theoretical framework. The third axis included the research procedures of determin
... Show MoreAs a marker of systemic inflammation, raised (C-reactive protein (CRP)) concentrations which are still within the normal range have been associated with an increased inflammation of chronic renal diseases (CRD). The current study aimed to establish potential determinats of raised CRP concentrations in patients who treated in Heamodialysis room,then study the relationship between CRP& some biochemical parameters related CRD We used a CRP latex reagents Kit which is based on an immunological reaction between CRP antisera bounded to the biologically inert latex particles or with CRP in the test specimens of 19 patients with (CRD) mean age 48 years ,range = 30?65 & in 21 healthy subjects as control group their age range = 30 ?45 years. The
... Show MoreBackground :Infectious disorders in general have high morbidity and mortality.. CNS infections include many disorders like bacterial meningitis, tuberculous and other subacute and chronic meningitis, viral meningitis, cerebral abscess, spinal cord infections, and others.
Objective: To assess our locality about prevalence of CNS infections , to have more awareness regarding CNS infections, and to try to find the proper way to reduce their prevalence and to treat them in appropriate way.
Method :We revised the records of all the cases of CNS infections excluding cases of spinal cord infections who were admitted in the wards of neuroscience hospital over the previous two years ( from July/2010 to June 2012 ),those were 132 cases.Seaso
Breastfeeding (BF) serves as a complete nutritional source for the first six months of infant’s life. Breast milk contains all essential nutrients that necessary for the physiological growth and development of infants. The aim of this study was to compare the physiological growth of infants including weight, height and head circumference who were exclusively breastfed for 6 months and those who were given bottle-fed or mixed fed and to find a percentage of exclusive breastfeeding among mothers who contributed in this study in Sulaimani city. This study was carried out in Sulaimani city/ Kurdistan region of Iraq and the cases were enrolled between the first of October 2018 and first of October 2019. The infants’ weight, height and hea
... Show MorePompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic e
... Show MoreThe metallicity [Fe/H] for several stars accompanied by Extra-solar planets were calculated and plotted as a function of stars mass (M*). Results showed that masses of Extra-solar planets stars are well correlated with their metallicity .This relation could be explained by the equation: Y=-0.0045x + 0.065. The metallicity limit is found to be in the range of (0.18 to 0.3), relative to the mass limit in the range of (0.76 to 1.44) MSun.
This criteria is a good tool that can be used by observers who are aiming for detecting Extra-solar planets
Statistical learning theory serves as the foundational bedrock of Machine learning (ML), which in turn represents the backbone of artificial intelligence, ushering in innovative solutions for real-world challenges. Its origins can be linked to the point where statistics and the field of computing meet, evolving into a distinct scientific discipline. Machine learning can be distinguished by its fundamental branches, encompassing supervised learning, unsupervised learning, semi-supervised learning, and reinforcement learning. Within this tapestry, supervised learning takes center stage, divided in two fundamental forms: classification and regression. Regression is tailored for continuous outcomes, while classification specializes in c
... Show MoreBackground: Day case surgery has become widely accepted as a safe alternative to the inpatient care in up to 70% of the cases at a children’s hospital. It has the advantage of minimizing the psychological trauma of hospitalization, decreasing nosocomial infection, less costly and frees up hospital beds.Objectives: To assess the advantages and disadvantages of this type of surgery.Methods: this is a prospective study, in which two hundred thirty childhood tonsillectomies were performed as a day-case in the department of otolaryngology at Al Shaheed Gazi hospital, Medical City Complex during the period from October 2009 to September 2010. The patients age range from 3-12 years (Mean 7.2 years).Results: 46.08% males and 53.91% females wer
... Show MoreRecent population studies have shown that placenta accreta spectrum (PAS) disorders remain undiagnosed before delivery in half to two-thirds of cases. In a series from specialist diagnostic units in the USA, around one-third of cases of PAS disorders were not diagnosed during pregnancy. Maternal