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.
Abstract Aim: Autism is a neurodevelopmental disorder which affects communication and social interaction of children. It is a heterogeneous disease with various clinical presentations. Some genes are involved in its pathogenesis. It has been suggested that environmental exposure to lead can increase the risk of autism. The aim of our study was to compare blood lead levels among autistic and non-autistic children. Material and Method: This retrospective study included 107 children (60 with autism and 47 without autism) referred from the different Iraqi provinces, in the years 2015, 2016 and 2017, to the poisoning consultation center in Baghdad. Data collection including age, gender, residence, referral source, family history and blood lead l
... Show MoreBackground: The Infraorbital foramen is an anatomical structure with an important location in the maxilla, position of foramen in maxillofacial area is necessary in clinical situation requiring regional nerve blocks that are performed in children undergoing facial surgeries to avoid injury to corresponding nerve. The aim of study was to determine the position of the Infraorbital foramen and to correlate Infraorbital foramen position with age and gender using computed tomography. Subjects, Materials, and Methods: The sample consist of prospective study for 50 Iraqi subjects (21 male and 29 female) with age ranged from (5-17) years. The examination was performed on Multi – Slice Spiral Tomography scanner in Al-Karakh General Hospital. Using
... Show MoreGingivitis, the initial stage of periodontal disease, is characterised by inflammation driven by dental biofilm and associated with oxidative stress. Matcha tea, a powdered green tea rich in antioxidants, has shown potential health benefits. This study aimed to investigate the effect of Matcha tea consumption on clinical periodontal parameters and salivary antioxidant levels in patients with gingivitis.
A randomised controlled clinical trial was conducted with 41 participants diagnosed with gingivitis.
The present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art
... Show MoreTraumatic radial nerve injury in humeral shaft fracture is the most common traumatic nerve injury in long-bone fracture, with overall prevalence 2-18%, ranging from traction to complete transection. Spontaneous recovery may reach 88%. The aim of the study is to assess the sensitivity & specificity of the ultrasound to detect the radial nerve injury and to see if this can be used as a diagnostic test. This is a prospective study on 17 adult patients with a closed fracture of the humeral shaft, dividing into two groups, the first group of 7 patients had signs and symptoms of radial nerve palsy at presentation and the second group of 10 patients had intact radial nerve function was considered as a control group. All these patients had at leas
... Show MoreThe formal investigation of the interior spaces of the residential bedrooms for children with autism is one of the basic tasks that should be known by the interior designer. Achieving an atmosphere compatible with his health condition, which contributes to generating a sense of spatial intimacy through the design dimension provided by the interior designer and his tireless endeavor to meet the needs of the child in an internal environment that achieves the functional dimension and spiritual approaches that enhance the child’s sense of spatial belonging and contribute to improving his mood and this positively reflects on his behavior and social integration. The current research has reached the most important design criteria that must be
... Show MoreThe childhood is an important stage in building the character of the individual and where children acquire the most important experiences . providing proper growth requirements of the things follows assist them in achieving a stable and together Childhood is the violence of indicators that can determine whether personal or illness social .the social circumstances experienced community Iraqi and continues through crises successive wars and explosions and the displacement and that these events may lead to changes in the social behavior of individuals and may contribute to the spread of violence in Iraqi society and observed various forms in (home, school, street, and work), so it was natural that a child the first affected by these waves o
... Show MoreBackground: Pneumonia is the common lower respiratory tract infection among pediatrics, especially under five; it is a common cause of under-five children morbidity and mortality. Objectives of study: To identify nurses' perceptions toward therapeutic strategies for children with pneumonia and to find the association between their perceptions and their demographic variables. Methods: A Convenient sample of 46 nurses in Baghdad city from three hospitals) Kadhimiya Hospital for Children, Central Teaching Hospital of Pediatrics, and Child Welfare Teaching Hospital) included in the study to identify their perceptions regarding pneumonia in children. Results: The results of the study present that most of the nurses' participants in the a
... Show MoreOsteoarthritis is the most prevalent arthritic disease and a leading cause of disability. The pathogenesis of osteoarthritis involves multiple etiologies, including variable degree of synovial inflammation. Metformin and pioglitazone could potentially reduce the levels and activity of inflammatory mediators. This may consider as a new therapeutic approach added to the current used drugs in an attempt to decrease the pain, inflammation, and improve daily activity and quality of life in patients with knee osteoarthritis.
This study designed to evaluate the clinical utility of using metformin or pioglitazone as anti-inflammatory agents in combination with non-steroidal anti-inflammatory drugs (NSAID) of selective type of cyclooxygen
... Show More