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.
Systemic lupus erythematosus (SLE) is the prototypic multisystem autoimmune disorder with a broad spectrum of clinical presentations encompassing almost all organs and tissues. Aimes of study determination of integrin- linked kinase 1(ILK-1) and anti-smith antibody(ASAB) levels in serum of Iraqi patients with systemic lupus erythematosus, in addition, that ILK-1 may be as a diagnostic marker of SLE disease, and study the effect of systemic lupus erythematosus on renal function in these patients. This study included 100 females’ patients with systemic lupus erythematosus attending to the Rheumatology Unit in Baghdad Teaching Hospital, Medical City, (Baghdad), in addition to 30 healthy females as controller group were chosen without any chr
... Show Moreتضاعف انتشار مرض السكري من النوع 2 في السنوات الأخيرة نتيجة الخلل في إنتاج الأنسولين ، والذي يمكن أن يتطور ليشكل مضاعفات مرض السكري التي تؤثر على الكلى والأعصاب والعينين. ونتيجة لذلك ، فإن التشخيص المبكر والتصنيف لمرض السكري من النوع الثاني ضروريان لمساعدة الطبيب على التقييم. وفقًا لذلك ، هدفت الدراسة الحالية إلى تحديد مستويات بروتين ارتباط الريتينول 4 (RBP4) في المرضى الذين يعانون من السكري النوع الثاني وم
... Show MoreKE Sharquie, AA Noaimi, BO Saleh, ZN Anbar…, Saudi Med J, 2009 - Cited by 13
Both type 1 diabetes and type 2 diabetes have a genetic component, with over 60 chromosomal regions related to type 1 diabetes and over 200 connected with type 2 diabetes at significant genome-wide levels. Numerous single nucleotide polymorphisms in the RETN gene and genetic variables can account for up to 70% of the variations in circulating resistin levels. The RETN polymorphism has been linked in numerous studies to obesity, insulin sensitivity, type 2 diabetes, and cerebrovascular illness. Our objective is to compare this RETN gene 3ʹ-untranslated region polymorphism in type 1 diabetes and type 2 diabetes Iraqi patients. We choose 51 type 1 diabetes and 52 type 2 diabetes patients against 50 healthy subjects (control group) to investig
... Show MoreBackground Rectal cancer is one of the most common malignant tumors of gastrointestinal tract. Combining chemotherapy with radiotherapy has a sound effect on its management.
Objectives Assessment the patterns of characterizations of rectal cancer. Evaluation of the efficacy, and long-term survival of pre-/ postoperative chemoradiation. Collecting all eligible evidence articles and summarize the results.
Methods By this systematic review and meta-analysis study, we include data of chemoradiation of rectal cancer articles from 2015 until 2019. The research was carried out at Baghdad Medical City oncology centers. Accordance with the
Abstract
The common types of movement disorders are ; dystonia which is a syndrome of repetitive muscle contractions. While , Huntington disease is autosomal dominant progressive neurodegenerative disorder, which is characterized by involuntary movements (“chorea”).
Tetrabenazine therapy has been shown to effectively control this movements compared with placebo.
Design the proper dosing approach for patients treated with tetrabenazine with genotype polymorphisms and their hepatic effect on patients.
A prospective case controlled study was carried on 50 patients whom divided into 2 groups :first group involved 25 patients who had cho
... Show MoreBackground: COVID-19 is a disease that started in Wuhan/China in late 2019 and continued through 2020 worldwide. Scientists worldwide continue to research to find vaccines, treatments, and medication for this disease. Studies also conenue to find the pathogenicity and epidemiology mechanisms. Materials and Methods: In this work, we analyzed cases obtained from Alshifaa center in Baghdad/Iraq for 23/2/2020-31/5/2020 with total instances of 797, positive cases of 393, and death cases of 30. Results: Results showed that the highest infection cases were among people aged between 41-45. Also, it was found that males' number of cases was more than females. In contrast, death cases were significantly higher in males than females. It was not
... Show MoreOily carwash wastewater is a high organic and chemical wastewater. This paper targeted to investigate a treatment to decrease the water consumption and contaminants in car-washing stations. Electrocoagulation combined with ultrasonic energy (Sono-Electrocoagulation) was suggested so that the carwash wastewater is treated to be reused. The effect of both the voltage and time of treatment on the removal of COD, turbidity, conductivity, and total dissolved solids (TDS) were studied at constant initial pH 7 and electrode distance 2 cm. The results showed the best results of removal COD, turbidity, TDS, and reduce electrical conductivity is when the voltage was 30 V and a treatment time of 90 minutes.
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... Show MoreThe robot arm is the most popular robotic form used in industry. Thus, it is crucial to make a system programming which could controlled the movement of each part in the industrial robot to make it works properly. One of the simplest models of the robot arm is EDARM ED-7100 which has a controller to control the movement of the robot arm manually. In this study, the robot controller has been redesigned in order to improve this robot's function. The new controller system used AT89S52 microcontroller which has wire connected to the robot hand. A function has been added with this controller to improve the system of controlling and becomes better than the previous system (only manually). The functions of the new system include three mo
... Show MoreBombay (Oh) and Para-Bombay are rare variants of the ABO blood group system that carry significant clinical importance. They are characterized by the absence or a marked reduction in the expression of the H antigen on red blood cells (RBCs). This deficiency leads to a failure in the synthesis of A and B antigens, predisposing patients—particularly those with the Bombay phenotype—to developing potent anti-H antibodies, which can cause severe hemolytic transfusion reactions. Objective: The primary goal is to provide clinicians and laboratory specialists with a practical and comprehensive framework to prevent avoidable blood mismatch and improve clinical outcomes for patients suffering from H-deficient phenotypes. Methods: This rev
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