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.
Ankylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. This study was aimed to investigate the relationship between the rs27044 polymorphism in Endoplasmic reticulum aminopeptidase-1 (ERAP-1) with the susceptibility and severity of AS correlated with some biochemical markers such as hematological parameter (Erythrocytes sedimentation rate (ESR)) and immunological parameters (C-reactive protein (CRP), Human leukocyte antigen-B27 (HLA-B27), Interlukin-6 (IL-6) and Interlukin-23 (IL-23)), and oxidative stress parameters (Glutathione (GSH) and Malondialdehyde (MDA)) in a sample of Iraqi population. A total of 60 blood samples were collected from AS patients requited Rhe
... Show MoreKE Sharquie, AA Noaimi, SA Galib, Journal of Cosmetics, Dermatological Sciences and Applications, 2013 - Cited by 4
This research deals with what so called concept of The Human Model and how Iraqi Media concerns of this concept practically as it plays a key role in attracting readers, on the first hand. On the second, it is important to shed light on the scientific desire of the Iraqi Media and how it deals with this contemporary trend especially in editorial media.
The importance of the research stems from the fact that it alerts to a new stream of modern trends in journalistic writing, according to many modern Arab and foreign media studies; and to the importance of employing human modeling in dealing with facts, events, issues and problems in various editorial arts within their effective influence in concilia
... Show MoreBackground: Stroke defined by diminished cerebral blood flow, results in brain damage and neurological impairments. It often leads to considerable difficulties, such as limited mobility and compromised hand function, usually manifesting as a weakening in the ability to open and shut the hand. Objective: The study evaluates the differences between opening and closing hands when utilizing a soft robot. Methods: The study was conducted in the Mosul Specialist Rehabilitation Center which involved 68 participants, all over 20 years old, with visual impairments. The Iranian Clinical Trials Registry and Ministry of Planning approved the study, The Fugl-Meyer Assessment for Upper Extremity Action Research Arm Test, and Arm Motor Ability Test were
... Show More98 samples were collected from various clinical sources included (Burns, wounds, urines, sputums, blood) From the city of Baghdad, After performing the biochemical and microscopic examination, 52 isolates were obtained for Pseudomonas aeruginosa, 17 (32.7%) isolates from burn infection, 12 (23%) isolates from Wound infection 11 (21.2%) isolates from urine infection, 7 (13.5%) isolates of sputum and 5 (9.6%) isolates from blood. Bacteria susceptibility to form biofilm has been detectedby microtiter plate method, The results showed that 80% of the bacterial isolates were produced the biofilm with different proportions, alg D gene (alginate production) has been detected by polymerase chain reaction (PCR) Which plays an essential role in the fo
... Show MoreThis is an empirical investigation of the tribal power in Iraq and its consequences on the socio-political system. A theoretical background concerning thestate kinship, tribe and tribal involvement in politics has been displayed with example of tribal power over people within the social context. Socio-anthropological method of data collection has been used, including a semi-structured interview with a sample of 120 correspondents. The outcome revealed that the feeble and corrupted state (government) play a vital role in encouraging the tribe to be dominant. The people of Iraq are clinging to the tribe regardless of whether they believe in it or not. Although they are aware that the tribe is a pre-state organisation and marred shape of ci
... Show MoreIA Ali, FK Emran, DF Salloom, Annals of the Romanian Society for Cell Biology, 2021
A solid Phase Extraction (SPE) cartridges followed by HPLC-UV method is described for the simultaneous quantitative determination of benzidine (BZ) and its substituted 3, 3’-dichlorobenzidine (DCB) and 3, 3’-Dimethylbenzidine (DMB). The Benzidines were separated by liquid chromatography using a C-18 column with UV detector at wave length of 280nm. The mode of Flow was isocratic. The mobile phase was consisted of 75:25 methanol: water, column temperature 50C°, and Flow Rate 1.8ml/min. Calibration curves were linear (R2 = 0.9979-0.9995). LOD (26.36-33.67) µg/L, LOQ (109.98-186.11) µg/L, the Robustness (2.99-4.35), Ruggedness (2.93-3.65).Conditions of extraction by (SPE) cartridges were optimized, the resin used is Octadecyl silica (ODS
... Show MorePsoriasis is a chronic inflammatory condition that requires effective treatment. Genetic variability, particularly in the Tumour Necrosis Factor-alpha (TNF-α) gene, may influence patients’ response to biological therapies such as etanercept. This study evaluated the association of four TNF-α gene polymorphisms (rs361525 G/A, rs673 G/A, rs1800629 G/A, and rs1800750 G/A) with serum TNF-α levels and response to etanercept in Iraqi patients with psoriasis. A retrospective study was conducted on 80 patients with moderate-to-severe psoriasis who received etanercept for at least six months. Patients were categorised as responders (≥ 75% PASI reduction) or non-responders (≤ 50% PASI reduction). Genotyping was performed using PCR and
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