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.
Rheumatoid arthritis is a worldwide inflammatory chronic autoimmune disease with varying severity. Due to no definitive cure for this disease, current therapies aim to decrease the pain and slow further damage. The interleukin (IL)‐36 cytokine was little known for its role in rheumatoid arthritis; this research aimed to evaluate the serum IL36 levels in RA patients compared to healthy controls. This study included 80 patients with rheumatoid arthritis registered at the Rheumatology Clinic in Baghdad teaching hospital. The patients were divided into three groups based on the treatments received. Group 1 included patients treated with biological therapy (etanercept, adalimumab), Group2 patients with non-biological treatment (methotr
... Show MoreBackground : Gastroesophageal reflux disease (GERD) is one of chronic gastrointestinal diseases in which patient may be asymptomatic or was complained from heartburn and regurgitation or pulmonary symptoms. Aim of the study : Examine the serum level of sHLA-G in GERD patients and can be used as a biomarker for early detection of GERD disease. Materials and methods : The design of the study was a case- control prospective enrolled forty patients consulted Gastroenterology Unit- Al-Kindy Teaching Hospital, were diagnosed as GERD by their physician, and compared to second forty control healthy group form January-2023 to May-2024. Serum used for quantitative assessment of soluble HLA-G (sHLA-G) using a sandwich enzyme-linked immunosorbent a
... Show MoreBackground: Hand, foot, and mouth disease is viral disease caused commonly by coxsackie virus A16 virus. It is a mild disease and children usually recover with no specific treatment within 7 to 10 days. Rarely, this illness may be associated with aseptic meningitis were patient may need hospitalization.
Objective: To determine significance of clinical features of hand, foot and mouth disease.
Methods: A cross sectional study of cases with clinical features of hand, foot and mouth disease visiting the dermatological consultation unit of Al Kindy teaching hospital. Sampling was for Zyona and Edressi Quarter patients over the period of 1st December 2017
... Show MorePolycystic ovary syndrome (PCOS) is the main cause of female infertility. The role of insulin resistance in the development of polycystic ovary is actively discussed here. The study included patients with PCOS without insulin resistance (n = 48) and with insulin resistance (n = 39). The comparison groups were patients with no history of PCOS: a control group without insulin resistance (n = 46) and a group of patients with insulin resistance (n = 45). The following parameters were determined in patients: FSH, LH, TSH, T3f, T4f, PRL, E2, 17-OHd, Pr, AMH, Test total, Testf, DHEAS, DHEASs, SHBG, ACTH, cortisol, IRI, IGF-1, C-peptide, and glucose level. The HOMA-IR index and the LH / FSH ratio and t
... Show MoreBackground: In type 2 diabetes mellitus there is a progressive loss of beta cell function. One new
approach yielding promising results is the use of the orally active dipeptidyl peptidase-4 (DPP-4)
inhibitors for type 2 diabetes mellitus.
Objective: This study aims at comparing the possible occurrence of macrovascular & microvascular
complications in Iraqis patients with type 2 diabetes mellitus using two combinations of drugs
metformin + glibenclamide and metformin + sitagliptin.
Methodology: Sixty eight T2DM patients and 34 normal healthy individuals as control group were
enrolled in this study and categorized in to two treatment groups. The group 1 (34 patients ) received
metformin 500 mg three times daily
In this work, oral lesions belong to 17 patients, 7 males and 10 females. Their ages range between 15 and 45 years. Follow up was conducted after one day, 7 days, 14 days, one month, and finally 3 months postoperatively. The study lasted for 1.5 year. Surgical diode laser with wavelength of 810 ± 20 nm, with two power levels of 10 and 15 W were used in contact and in non-contact mode via optical fiber. The postoperative outcome revealed; greater haemostatic capability, dry, sealed wound and noticeable lack in pain sensation
In this study, the fission track registration technique with the CR-39 detector are using to determination the uranium concentrations for seventeen samples of teeth distributed in four districts in Baghdad City .Five samples taken from both Al-Durra District and Al-Jadiriyia District, Four samples taken from Al-Karrda (Alaatar street) Taken four samples and three samples taken from Al-Zuafrania and by 0.5gm in weight and 1.5 mm in thickness. The uranium concentrations in teeth samples measured by using fission tracks registration in (CR-39) track detector that caused by the bombardment of (U) with thermal neutrons from (241 Am-Be) neutron source that has flux of (5 ×103 n cm-2 s-1). The concen
... Show MoreOrthodontic treatment has two major problems: being lengthy and costly procedure. The present study was designed to evaluate the clinical efficacy of locally injected vitamin D3 Keywords: Orthodontic, Calcitriol, Local injection, OTM (calcitriol) in accelerating orthodontic teeth movement (OTM) and reducing treatment time and cost in humans. The study was performed on 15 Iraqi adult orthodontic patients within the age range 17-28 years, they are randomly allocated into three groups, each of five patients and treated with either 15 pg, 25 pg, or 40 pg/0.2ml calcitriol diluted with 10% dimethylsulfoxide (DMSO). The maxillary arch of every patient was divided into control (right) and experimental (left) sides. In addition to force application,
... Show MoreThe present paper aims at investigating the linguistic image portrayed by UNICEF reports on the Iraqi child from a critical discourse analysis perspective during Covid19 pandemic (2020). The paper attempts to fill a gap in research literature concerning the linguistic construction of the Iraqi child by the UNICEF reports during the critical health crisis of Covid19. Van Leeuwen’s (2008) approach of social actor representation has been adopted for this purpose. From Van Leeuwen’s approach, the category of determination (single determination and overdetermination) has been selected to be the main analytical tool for its high compatibility with the set of objectives put forward to figure out how such a globally effective and
... Show MoreThe need for detection and investigation of the causes of pollution of the marshes and submit a statistical study evaluated accurately and submitted to the competent authorities and to achieve this goal was used to analyze the factorial analysis and then obtained the results from this analysis from a sample selected from marsh water pollutants which they were: (Electrical Conductivity: EC, Power of Hydrogen: PH, Temperature: T, Turbidity: TU, Total Dissolved Solids: TDS, Dissolved Oxygen: DO). The size of sample (44) sites has been withdrawn and examined in the laboratories of the Iraqi Ministry of Environment. By illustrating SPSS program) the results had been obtained. The most important recommendation was to increase the pumping of addit
... Show More