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.
Assessing the accuracy of classification algorithms is paramount as it provides insights into reliability and effectiveness in solving real-world problems. Accuracy examination is essential in any remote sensing-based classification practice, given that classification maps consistently include misclassified pixels and classification misconceptions. In this study, two imaginary satellites for Duhok province, Iraq, were captured at regular intervals, and the photos were analyzed using spatial analysis tools to provide supervised classifications. Some processes were conducted to enhance the categorization, like smoothing. The classification results indicate that Duhok province is divided into four classes: vegetation cover, buildings,
... Show MoreBackground: Acute appendicitis is a common surgical
problem that is associated with an acute-phase reaction.
Previous studies have shown that cytokines and acutephase proteins are activated and may serve as indicators for
appendicitis.
Objective: The aim of this study was to evaluate of serum
levels of interleukin-6 (IL-6) in correlation to the severity
to acute appendicitis.
Methods: This is a prospective study from December 2008
to March 2009 of patients who had appendectomy in
Department of Surgery, Al-Kindy Teaching Hospital -
Baghdad/Iraq. Serum for estimating levels of interleukin-6
(IL-6) was taken pre-operatively. Depending on the
macroscopic evidence during the operation and the
histopathol
Background: Prolapsed intervertebral disc is an important and common cause of low backache. MRI has now become universally accepted investigation for prolapsed intervertebral disc. We, however, regularly come across situations, when MRI shows diffuse disc bulges, even at multiple levels, which cannot be correlated clinically and when such cases are operated, no significant disc prolapse is found resulting in negative exploration. Objective: To evaluate the role of M.R.I. finding not only for diagnosis of disc herniation at lumbar region but also for localization the level of herniation Methods: A prospective study on seventy five symptomatic low backache and MRI confirmed prolapsed intervertebral disc patients at lumbo-sacral region were op
... Show MoreBackground: Prolapsed intervertebral disc is an important and common cause of low backache. MRI has now become universally accepted investigation for prolapsed intervertebral disc. We, however, regularly come across situations, when MRI shows diffuse disc bulges, even at multiple levels, which cannot be correlated clinically and when such cases are operated, no significant disc prolapse is found resulting in negative exploration.Objective: To evaluate the role of M.R.I. finding not only for diagnosis of disc herniation at lumbar region but also for localization the level of herniationMethods: A prospective study on seventy five symptomatic low backache and MRI confirmed prolapsed intervertebral disc patients at lumbo-sacral region were o
... Show MoreBackground: Thalassemia is characterized by the decrease or absence of the synthesis of one or more globin chains of hemoglobin. Thalassemia is distributed worldwide and is characterized by; regular blood transfusion which is creating alloimmunization to erythrocyte antigens is one of the major complications of regular blood transfusions in thalassemia, particularly in patients who are chronically transfused.Objectives: The aims of this study are to understand the immune system profile as the triggering factor for thalassemia.Methods: Thirty patients aging between one year and four months and twenty two years, twenty two of them were boys and eight were girls. Twenty nine patients, their parents are relative except one and studied in the
... Show MoreBeata thalassemia
Beta thalassemia syndrome by reduction or absence of B-globin chain synthesis. Without iron chelation therapy (ICT) the regular blood transfusion would increase the iron stores to several times. Endocrine glands are vulnerable to iron overload causing endocrine dysfunction. Iron deposition within the parathyroid gland causes hypoparathyroidism particularly after ten years of age. Pancreatic islets are very susceptible to oxidative damage due to iron overload; their high divalent metal expression makes them highly susceptible to iron-catalyzing oxidative stress. The pathogenicity of osteopathy in is multifactorial comprising environmental (diet and lifestyle), iatrogenic (medicines), genetic and acqui
... Show MoreHe mentioned in this article the main types of corruption, which are political, moral, financial and administrative. Others may add other types of corruption, such as religious, scientific, media, informational and statistical corruption. At the global level, the focus is largely on financial corruption, although other types of corruption are no less bad than it. Financial corruption can be defined as all financial deviations in violation of general laws or the provisions of regulations, legislation, and procedures regulating the work of the state, private institutions and individuals and applied in state institutions and the private sector in general and inconsistent with the controls and instructions of financial control.
In th
... Show MoreBackground: Diabetes mellitus is a metabolic disorder affecting people worldwide, which require constant monitoring of their glucose levels. Commonly employed procedures include collection of blood or urine samples causing discomfort to the patients. Necessity arises to find alternative non invasive technique is required to monitor glucose levels. Saliva is one of most abundant secretions in the human body and its collection is easy, noninvasive and painless technique. Objective: The aim of this study was to determine the efficacy of saliva as a diagnostic tool by study the correlation between blood and salivary glucose levels and glycosylated hemoglobin (HbA1c%) in diabetes and non diabetes, and the comparison of salivary glucose level
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