Preferred Language
Articles
/
g-ZKdZwBmraWrQ4dl0o4
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
...Show More Authors

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.

Scopus
View Publication
Publication Date
Sat Oct 20 2018
Journal Name
Journal Of Economics And Administrative Sciences
Measurement and analysis of financial liberalization in Iraq
...Show More Authors

Abstract :                                                                                                            

In light of the trend of the countries of t

... Show More
View Publication Preview PDF
Crossref
Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
A Study of the Relation between Human Cytomegalovirus and IL-35 in Rheumatoid Arthritis Disease Patients in Iraq
...Show More Authors

ackground An autoimmune and inflammatory illness called rheumatoid arthritis (RA) occurs when your immune system mistakenly attacks normal cells in your body. Interleukin-35 is a brand-new cytokine that belongs to the immunosuppressive and anti-inflammatory IL-12 family. β -herpesvirus that produces inflammation and stays dormant in its host for life is the human cytomegalovirus. Human herpesvirus (HCMV) has been at the core of several RA-related theories. Objective The current study looked at the association between RA and serum IL-35 levels as well as the association between RA and CMV. Patients and methods Blood samples were taken in the Baghdad Teaching Hospital and Typical Rheumatology Unit from January 2022 to Mars 2022 for the curre

... Show More
Publication Date
Sun Jun 30 2024
Journal Name
Anbar Journal Of Agricultural Sciences
EFFICIENCY ALCOHOLIC EXTRACT OF NIGHTSHADE WILD AND POTASSIUM SILICATE IN NORMAL AND NANO TO CONTROL OF DOWNY MILDEW DISEASE IN CUCUMBER
...Show More Authors

The study was carried out during the 2022 agricultural season in the greenhouses belonging to the-College of Agricultural-Al-Ramadi, the study aimed to investigate the efficacy of alcoholic extract of Solanum eleaegnifolium, potassium silicate and ungicide Previcur Energy in normal and nano formula to control downy mildew disease on cucumber crops caused by the fungus Pseudoperonospora cubensis. The results showed that the normal potassium silicate treatment completely prevented the disease during the length of the season, with an infection severity rate of 0.00%, compared to infection with artificial contamination of 45.90%, followed by the treatment of nano fungicide 4.60%. While the treatments of alcoholic extract and nano of nightshade

... Show More
View Publication
Scopus (6)
Crossref (2)
Scopus Crossref
Publication Date
Tue Apr 30 2024
Journal Name
International Journal Of Phytopathology
Role of Arbuscular Mycorrhiza (AM) Fungi and Lignin in Biological Control against Vascular Fusarium Wilt Disease
...Show More Authors

The current study aimed to assess the biological efficacy of the triple arbuscular mycorrhiza (AM) mixture of fungi Glomus etunicatum, G. leptotichum and Rhizophagus intraradices, and mix it with organic matter (O) and pathogenic fungi Fusarium oxysporum f.sp.lycopersici by using voyeurism in the plastic house in the growth of the tomato plant after four and eight weeks of cultivation. The results were shown after the treatment of the tomato plant in agriculture with the mixture of mycorrhiza and the pathogenic fungi and organic matter were treated with the mixture of mycorrhiza, organic matter and pathogenic fungi together. The effect of mycorrhiza and organic matter interference on the increase in the percentage of the lignin afte

... Show More
View Publication
Publication Date
Wed Sep 15 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Prevalence of viral co-infection among COVID-19 cases in association disease severity and oral hygiene
...Show More Authors

Background: In December 2019, an episode of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARSCoV2) was reported in Wuhan, China and has spread around the world, increasing the number of contagions. Cytomegalovirus (CMV) and Epstein-Barr virus (EBV) are common herpesviruses that can cause persistent latent infections and affect the developing immune system.The study was conducted to explore the prevalence and reactivation of CMV and EBV antibodies in COVID-19 patients group in comparison to healthy group and to investigate the association between the presence of these viruses with each of severity of disease and oral hygiene. Materials and Methods: Eighty Five subjects were participated in this case control study (5

... Show More
View Publication Preview PDF
Scopus (5)
Crossref (4)
Scopus Crossref
Publication Date
Fri Sep 01 2017
Journal Name
International Journal Of Science And Research (ijsr)
Favism Clinical Experience in Al-Elwia Pediatric Teaching Hospital in Iraq
...Show More Authors

Publication Date
Fri Mar 31 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Formulation and Clinical Evaluation of Orphenadrine citrate as a Plain Tablet
...Show More Authors

Orphenadrine is an anticholinergic ,antimuscarinic , centrally acting skeletal muscle relaxant .It presents in the form of citrate and HCl salts which are used in treatment of the symptoms of mild Parkinson's disease and also it is used as adjuvant with other drugs in the therapy .

      Many trials were made to formulate Orphenadrine citrate as a plain tablet using wet granulation or direct compression technique in order to get a satisfactory formula through studying the effect of various factors such as binders , diluents and disintegrants types .

    The best formula was obtained by using Poly Vinyl Pyrolidine (PVP) as a binder also the results indicated that starch and mannitol

... Show More
View Publication Preview PDF
Crossref
Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Chronic Myeloid Leukemia: A retrospective study of clinical and pathological features
...Show More Authors

Chronic myeloid leukemia (CML), is one of the myeloproliferative disorders with a characteristic cytogenetic abnormality resulting in the BCR-ABL fusion gene. Imatinib Mesylate is an effective agent for treating patients in all stages of CML. According to the annual Iraqi cancer registry 2019, the total number of chronic myeloproliferative disorders was 338. The percentage and incidence rates were 0.94% and 0.86%, respectively, with a higher incidence rate in males than females (1.12 in males and 0.60 in females). In this registry, no details about CML, so this study aimed to estimate the number of CML patients who attended the national center of hematology from 2005 until 2020 and investigate their epidemiological and clinic-pathol

... Show More
View Publication
Scopus (25)
Crossref (5)
Scopus Crossref
Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Non-Metastatic Breast Cancer : Clinical Presentation and Patterns of Surgical Treatment
...Show More Authors

Background : Breast cancer is the most common cancer of
women. When breast cancer is detected and treated early,
the chances for survival are better. Surgery is the most
important treatment for non-metastatic breast cancer.
Al-Kindy Col Med J 2008 Vol.5(1) 40 Original Article
Objectives : The aim of this study is to review different
clinical presentation and to evaluate types of surgical
procedures and complications in treatment of nonmetastatic breast cancer.
Method : During the period from Jun 1998 to May 2005,
93 patients with non-metastatic breast cancer were
diagnosed and treated surgically in 2 hospitals in Baghdad (
Hammad Shihab military hospital and Al-Kindy teaching
hospital).
Results : Wo

... Show More
View Publication Preview PDF
Publication Date
Mon Jul 01 2024
Journal Name
World Neurosurgery
Orbital Rhabdomyosarcoma: Comprehensive Review of Epidemiology, Clinical Staging, and Treatment Outcomes
...Show More Authors

View Publication
Scopus (5)
Crossref (7)
Scopus Clarivate Crossref