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 work has been carried out to develop national drug product contains 2.5mg/ml clonazepam as oral drop; it is used for the treatment of epilepsy in infants and children.
Several formulations were prepared using oral drop base, flavor, buffer, sweeteners and preservatives. Selection of best formula relied solely on physic-chemical testing of samples.
Stability study was conducted on the product for six months at different temperatures to determine the expiration date and the best storage conditions.
From the study we obtained an oral drop of good clear solution. The expiry date calculated to be not less than 2 years.
Gastro oesophageal reflux disease is due to involuntary gastric contents reflux into the esophagus from stomach, causing heartburn and acid regurgitation symptoms. Genetic and environmental factors are important factors in the causation of disease. Human Leukocyte antigens considered as an excellent marker for population genetics analysis and disease association. This study aimed to investigate the association between HLA-DRB1-DQB1 haplotype that inherited in linkage and its association with gastro oesophageal reflux disease (GERD). Patients and healthy controls were prospectively recruited from gastrocolonoscope unit at Al-Kindy Teaching Hospital (Baghdad-Iraq) between January and July 2016. Forty Iraqi Arab Muslims patients with a history
... Show MoreBackground: Cardiovascular disease (CVD) is an important complication of type 2 diabetes mellitus (T2DM). Oxidative stress plays a major role in the development of CVD. Saliva has a diagnostic properties aiding in the detection of systemic diseases. This study aimed to assess the association between salivary oxidative stress markers and the risk of vascular disease (VD) in T2DM patients. Materials and Methods: One hundred T2DM patients and fifty apparently healthy males were enrolled in this study. Saliva sample was collected for assessment of oxidative stress markers including: lipid peroxidation plasma thiobarbituric acid-reactive substances (TBARS), uric acid (UA) and total antioxidant capacity (TAC) levels. Arterial stiffness index (ASI
... Show MoreRemoving of terasil yellow (W-6GS) dye it was studied by using Iraqi Siliceous Rocks Powder (SRP). The study included adsorption isotherms and some effects: temperature, salty medium and the acidity the study that the adsorption isotherms obeys to Temkin equation more than other equations the results showed that the adsorption increased with increasing temperature (Endothermic process. Based on the results, thermodynamic functions (˜H, ˜G, ˜S) were estimated. The amount of adsorbent on the surface increasing with increasing the acidity solution. The kinetics study of the adsorption treated according (Lagergren equation). The kinetic data of experiments properly correlated with the first order kinetic equation.
Abstract:
The phenomenon of financial failure is one of the phenomena that requires special attention and in-depth study due to its significant impact on various parties, whether they are internal or external and those who benefit from financial performance reports. With the increase in cases of bankruptcy and default facing companies and banks, interest has increased in understanding the reasons that led to this financial failure. This growing interest should be a reason to develop models and analytical methods that help in the early detection of this increasing phenomenon in recent year . The research examines the use of
... Show MoreBackground/Objectives: The purpose of this study was to classify Alzheimer’s disease (AD) patients from Normal Control (NC) patients using Magnetic Resonance Imaging (MRI). Methods/Statistical analysis: The performance evolution is carried out for 346 MR images from Alzheimer's Neuroimaging Initiative (ADNI) dataset. The classifier Deep Belief Network (DBN) is used for the function of classification. The network is trained using a sample training set, and the weights produced are then used to check the system's recognition capability. Findings: As a result, this paper presented a novel method of automated classification system for AD determination. The suggested method offers good performance of the experiments carried out show that the
... Show MoreThe use of data envelopment analysis method helps to improve the performance of organizations in order to exploit their resources efficiently in order to improve the service quality. represented study a problem in need of the Iraqi Middle East Investment Bank to assess the performance of bank branches, according to the service quality provided, Thus, the importance of the study is to contribute using a scientific and systematic method by applying the data envelopment analysis method in assessing the service quality provided by the bank branches, The study focused on achieving the goal of determining the efficiency of the services quality provided by the bank branches manner which reflect the extent of utilization of a
... Show MoreThe issues of journalists and media employees in general and photojournalists in particular have become important issues, especially as those issues are closely linked to the success or failure of the media process.
This research deals with (the issues of Iraqi photojournalists working in local and foreign institutions in Iraq - a case study in 2012), because of the ambiguity in identifying those issues, which focused on the issues of this research.
This was done through the research community of members of the Association of Iraqi photojournalists in Baghdad exclusively of (64) photographers and television photographers to identify the problems encountered in their work
... Show More: Cervical malignancy positioned as the fourth most prevalent disease among women around the world. HPVs especially HPV16 are the causative agent of cervical cancer, responsible of about 5% of all human cancers worldwide. Some researchers found that the fibronectin is repressed by the papillomavirus (HPV) type 16 E7 oncoprotein in both HPV-positive nontumorigenic and tumorigenic cell lines, while others found that the HPV oncoprotein increase the levels of fibronectin. The aim is to study the effect of HPV infection on Fibronectin expression and their correlation onthe development of Cervicalcancinoma. The current retrospective study enrolled paraffinized blocks of two groups. The research included 30 cervical carcinomatous tissues as well
... Show MoreBlood samples of One hundred and twenty patients from different hospitals in Baghdad infected with hydatidosis in different sites of the body (Liver, Lung, multiorgans and kidney) were collected for this study. On the other hand, 30 healthy individuals were included as a control group. This study was conducted to evaluate the effect of this disease on the serum protein profile of the patients using electrophoresis. The results revealed four different protein banding patterns with difference in number of bands and their molecular weights in comparison to the control group, and these differences depended on the site of infection. However the data showed a presence of the same band in all patients with different site of infection.