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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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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.

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Publication Date
Sat Dec 21 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical effects of Arabic gum (Acacia): A mini review
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Gum Arabic is a natural gummy exudate gained from the trees of Acacia species (Acacia senegal and Acacia seyal), Family: Fabaceae. Gum Arabic considers as a dietary fiber with a high percentage of carbohydrates and low protein content. Sugars arabinose and ribose were originally discovered and isolated from gum Arabic and it is representing the original source of these sugars. A gum emanation from trees occurs under stress conditions such as heat, poor soil fertility, drought, and injury. Mainly gum is produced in belt region of Africa, mainly Sudan, Chad, and Nigeria. In the food industry, it is used in confectionery; in the pharmaceutical industry, it is used as emulsifier, film coating and others. Traditionally the g

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Publication Date
Sat Dec 05 2020
Journal Name
International Journal Of Clinical Practice
Assessment of COVID‐19 Treatment containing both Hydroxychloroquine and Azithromycin: A natural clinical trial
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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Optimization of Glutathione S-Transferase in the Sera of Young Female Iraqi Patients with Diabetes Mellitus Type1
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This study was attempted to determine optimum conditions, for Glutathione s-Transferase enzyme, in sera of three groups diabetic patients type1 depending on duration of disease without complications compared with control group. The aim of this study was to find optimum conditions were determined such as (pH, Substrate Concentration, Temperature, Incubation time, Enzyme concentration, and effect of(0.15M)(0.25M) of mono divalent compounds). And to find the kinetics parameters in the three groups of diabetic patients when compared with control. It was found optimum pH(8.5,4.5,2.5,6.5).Temperatures(20cº,40cº,50cº,30cº). Incubation times (7min, 4min, 4min, 5min) substrate concentrations (12µl, 10µl, 5µl, 10µl) enzyme concentra

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Publication Date
Wed Aug 31 2011
Journal Name
Ibn Al- Haitham J. For Pure & Appl. Sci
Effect Of Some Enzymes Activity In Liver Diseases From Patients Of Salmonella Paratyphi A With Iraqi Woman.
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This present study demonstrated that liver was involved in 14 %of typhoid patients manifesting with hepatomegaly. Elevation of serum enzymes in typhoid fever was presumably of a muscular origin, while elevation of liver enzyme was relatively less common. This study was performed on 30 female patients diagnosed by ultrasound (US) of abdomen, with paratyphoid A, ranged between (20-40) years compared with 30 healthy control .Patients volunteers were treated with appropriate antibiotics for 14 days and investigations were repeated 2-3 week after completion of treatment. Patients had clinical and biochemical evidence of hepatic dysfunction. The spectrum of hepatic involvement included hepatomegaly , jaundice, derangement of various hepatic func

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Uric Acid as a Natural Scavenger of Peroxynitrite in a Sample of Iraqi Patients with Rheumatoid Arthritis
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Rheumatoid arthritis (RA) is a chronic inflammatory disease associated with decreased antioxidant state .This study aim to investigate the status of oxidant/antioxidant in a sample of  Iraqi patients with RA and the role of peroxynitrite and its natural scavenger uric acid in them .This case-controlled study was conducted at Baghdad teaching hospital /Baghdad from December 2010-May 2011 . Twenty-five patients with mean age 39 years and 25 apparently healthy subject as controls with mean age 29 years were included in the study .Investigations include estimation of serum levels of nitric oxide (NO)  ,peroxynitrite (PN) , malondialdehyde (MDA)  , and uric acid (UA) .Serum PN levels were significantly elevated in RA patients a

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Publication Date
Thu Oct 01 2020
Journal Name
Biochemical And Cellular Archives
THE ONCOGENIC EFFECT OF EBV/HPV CO-INFECTION IN A GROUP OF IRAQI WOMEN WITH CERVICAL CARCINOMA
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The current paper was designed to find the possible synergic effect of EBV infection with the HPV-16 in Iraqi women suffering from cervical carcinoma. This retrospective study involved paraffinized blocks of two groups. The research included 30 carcinomatous cervical tissues and 15 samples from normal cervical biopsies. After sectioning using positively charged slides, immunohistochemistry (IHC) was performed to detect anti-Epstein Barr Virus LMP1 and Human papillomavirus type 16 primary antibodies. Sixty-three percentage (19 out of 30) of the studies group showed positive overexpression as shown in with a significant association of the expression with cervical cancer with a significant association (p = 0). The co-infection of the EBV and H

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Publication Date
Mon Apr 01 2019
Journal Name
World Heart Journal
Echocardiographic Evaluation of the Right Ventricular Function in a Sample of Iraqi Patients with Left Ventricular Dysfunction
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Background: Assessment of function of the right side of the heart in cases of left ventricular dysfunction has been widely studied but the sensitive and specific echocardiographic parameter to be tested is still a matter of controversy. Right ventricular function is related to left ventricular function by ventricular independence so function of both should be assessed carefully. The objective of this study was to evaluate the effects of left ventricular systolic dysfunction on right ventricular systolic and diastolic functions and pulmonary pressure using conventional and tissue Doppler echocardiography. Patients and Methods: Sixty patients (39 males and 21 females) with heart failure due to left ventricular systolic dysfunction

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Publication Date
Mon Apr 01 2019
Journal Name
Iraqi Journal Of Biotechnology
The Promising Anti-Tumor Impact of Newcastle Disease Virus Expressing IL-2 and P53 Genes in Many Cancer Cell Lines In vitro
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Abstract: Recombinant Newcastle disease virus (rNDV) has shown an anticancer effect in preclinical studies, but has never been tested in a lung cancer models. In this study we explored the anticancer activity of genetically modified NDV expressing IL-2-P53 (rClone30–IL-2-P53) in lung cancer model. We have cloned IL-2 and P53 genes and inserted them in the viral genome of New Castle Disease Virus to create a genetically modified rNDV- IL-2-P53 virus and tested the anti-tumor activity of the new virus in vitro on different types of cancer cell lines by MTT assay. TheIL-2 and P53 gene were successfully cloned and inserted into the viral genome by using a Mlu I and Sfi I endonucleases, viral vector was constructed correctly and successf

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Publication Date
Tue Oct 01 2019
Journal Name
Journal Of Engineering
Effect of laser process an inclined surface cutting of mild steel then analysis data statistically by RSM
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The regression analysis process is used to study and predicate the surface response by using the design of experiment (DOE) as well as roughness calculation through developing a mathematical model. In this study; response surface methodology and the particular solution technique are used. Design of experiment used a series of the structured statistical analytic approach to investigate the relationship between some parameters and their responses. Surface roughness is one of the important parameters which play an important role. Also, its found that the cutting speed can result in small effects on surface roughness. This work is focusing on all considerations to make interaction between the parameters (position of influenc

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Publication Date
Wed Apr 07 2021
Journal Name
Indian Journal Of Forensic Medicine & Toxicology,
The Clinical Effect of Super Oxidized Water Mouthwash on The Periodontal Parameters (Plaque Index, Gingival Index And Bleeding on Probing) for Patients with Dental Biofilm Induced Gingivitis
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