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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
Mon Jun 28 2021
Journal Name
Journal Of Engineering
The Catholyte Effects on The Microbial Desalination Cell Performance of Desalination and Power Generation
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A microbial desalination cell (MDC) is a new approach to bioelectrochemical systems. It provides a more sustainable way to electrical power production, saltwater desalination, and wastewater treatment at the same time. This study examined three operation modes of the MDC: chemical cathode, air cathode, and biocathode MDC, to give clear sight of this system's performance. The experimental work results for these three modes were recorded as power densities generation, saltwater desalination rates, and COD removal percentages. For the chemical cathode MDC, the power density was 96.8 mW/m2, the desalination rate was 84.08 ppm/hr, and the COD removal percentage was 95.94%. The air cathode MDC results were different

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Publication Date
Mon Jan 01 2024
Journal Name
Cytokine
Evaluation of IL-8, nitric oxide and macrophage inhibitory factor as clinical circulatory markers in patients with cutaneous leishmaniasis, before and during sodium stibogluconate treatment
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The clinical spectrum of cutaneous leishmaniasis (CL), an intracellular parasitic pathogen, ranges from a single sore healing to chronic crusty lesions with a manifestation of treatment resistance. The complicated interaction between Leishmania bodies and the early immune response, including innate and adaptive mechanisms, determines the evolution of nodules. This study examined the levels of the chemoattractant interleukin 8 (IL-8), pro-inflammatory nitric oxide (NO), and immunoregulatory macrophage inhibitory factor (MIF) in the serum of subjects recently diagnosed with cutaneous leishmaniasis, in parallel with patients being monitored during consecutive sodium stibogluconate (Pentostam) treatment. A total of 161 serum samples of newly di

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Publication Date
Fri Sep 27 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of ageing on selected salivary chemical compositions and dental caries experience among group of adults
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Background: Ageing is a continuous accumulative ordinary physiological phenomena occurs upon all organs and body structures including saliva by its constituents which can influence the caries process, for that this study was conducted to determine the impact of ageing on selected chemical composition of saliva and their effects on dental caries experience characteristics at different age groups among apparently healthy men. Materials and method: A descriptive comparative study was conducted to compare between three study samples (young, middle and old age adults), thirty male in each study insert, aged (20 years, 40 years and 60 years) respectively. They were selected from private health center in Baghdad - Iraq, from the mid of November

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Quantitative and Qualitative Analysis of Plumbagin in the Leaf and Root of Plumbago europaea Growing Naturally in Kurdistan by HPLC
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Plumbago (Plumbaginaceae) is a genus of 10-20 species of flowering plants used in traditional Indian medicine, native to warm temperature to tropical regions of the world. The roots of Plumbago europaea, the Iraqi species of Plumbago, have been used for the treatment of cancer, rheumatoid arthritis, and dysmenorrhea. The main active constituents from dried powdered leaves and roots of Plumbago europaea were extracted by Soxhlet apparatus using ethyl acetate, the main active constituent was characterized by spectroscopic analysis (IR, 1H NMR, and 13C NMR)   as plumbagin. Quantitative and qualitative study of plumbagin in the roots and leaves extracts was carried out by HP

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Relationship between Uric Acid Concentration and Some of Plasma Lipids in Patients with C. V. Disease in General Hospital of Al-Nasseriya
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         Cardiovascular disorders  are  refer to the class of diseases that involve the heart or blood vessels (arteries and veins). While the term technically refers to any disease that affects the cardiovascular system. Cholesterol is classified as a sterol (a contraction of steroid and

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
HLA Typing in Iraqi Patients with Obesity and Primary Osteoarthritis.
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Background: Osteoarthritis (OA) is a degenerative joint disease. It is one of the major causes of disability in developed and developing countries. Human leukocyte antigen (HLA) as part of immune system has a role in the disease process.Objectives: To investigate whether there is an association between HLA class II-DRB and OA.Methods: A case control study with 26 patients with osteoarthritis and 22 apparently healthy obese control persons matching in ethnicity were enrolled in this study during the period between October 2012 till March 2013. Direct interview was done with each patient and HLA typing was done by molecular method using Sequence Specific Primer (PCR-SSP) method using One Lambda Kit-USA. Results: The results showed that fem

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Publication Date
Thu Jul 04 2024
Journal Name
Pakistan Journal Of Life And Social Sciences
Analysis of Kidney Amino Acids in Iraqi Pin-Tailed Sandgrouse Pterocles Alchata Bird
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The amine group (NH2) and the carboxyl group (COOH-) are the fundamental components of amino acids. They regulate several essential physiological functions of organisms and are found in all forms of life, including humans, plants, and microorganisms. Furthermore, they serve as vital energy sources and also act as neurotransmitters. An analysis of the kidneys of Pterocles alchata, an Iraqi Pin-tailed sandgrouse, revealed the presence of 18 specific amino acids. The data indicate that there were no significant differences in the total amounts of amino acids among the three renal lobes. The concentrations in the anterior, middle, and posterior lobes were measured to be 14.154 ą97. 273, 12.437 ą87. 255, and 11.882 ą88. 157 correspondingly, w

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Publication Date
Sat Aug 17 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Analysis of Follicular Fluid Fatty Acids in Iraqi Women Undergoing Intracytoplasmic Sperm Injection
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Background: Oocytes are susceptible to alterations in the various fatty acid contents of follicular fluid (FF), which may influence maturation and embryogenesis. Different fatty acids exert various effects on intracytoplasmic sperm injection (ICSI), which needs further studies to uncover the involved mechanisms. Objectives: To assess FF fatty acids in women undergoing ICSI and to correlate them with ICSI parameters, namely the total count of aspirated oocytes, oocyte maturation rate, fertilization rate and percentage of good-quality embryos. Methods: Fifty women undergoing ICSI were enrolled in this cross-sectional study. FF samples were collected during oocyte retrieval and were analyzed for fatty acids using gas chromatography. Fa

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Publication Date
Sat Aug 17 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Analysis of Follicular Fluid Fatty Acids in Iraqi Women Undergoing Intracytoplasmic Sperm Injection
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Background: Oocytes are susceptible to alterations in the various fatty acid contents of follicular fluid (FF), which may influence maturation and embryogenesis. Different fatty acids exert various effects on intracytoplasmic sperm injection (ICSI), which needs further studies to uncover the involved mechanisms. Objectives: To assess FF fatty acids in women undergoing ICSI and to correlate them with ICSI parameters, namely the total count of aspirated oocytes, oocyte maturation rate, fertilization rate and percentage of good-quality embryos. Methods: Fifty women undergoing ICSI were enrolled in this cross-sectional study. FF samples were collected during oocyte retrieval and were analyzed for fatty acids using gas chromatography. Fa

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Publication Date
Sat Apr 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Estimation & Analysis Relationship between Growth rate GDP and Unemployment Rate In Iraqi Economic in Period (1990-2014)
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It reflects the gross domestic product in any country total output of goods and services by the size of the country's citizens and foreign residents during the period of the year and reflect the contribution of the commodity sectors of the economy and the distribution and service in the composition of output. And gross domestic product in Iraq as an indicator dominated in the composition of oil output, along with the contribution of the service sector, as the gross domestic product is the output of a yield lien   and subjected GDP in Iraq to a series of declines succession due to vibrations of the oil market during the economic blockade on the one hand and stop imported production inputs, lack of arriving in commodity s

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