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.
Uropathogenic Escherichia coli is the main cause of urinary tract infections, the ability of this bacteria to cause urinary tract infections is related to a variety of virulence factors that enhance colonization and evade the immune response, one of these virulence factors is cytotoxic necrotizing factor 1 toxin which converts the glutamine residue to glutamic acid to activated GTPase Rho family. The study was meant to find out the prevalence rate of the cnf1 gene in Uropathogenic Escherichia coli isolated from Iraqi patients. Conventional laboratory methods were used for primary bacterial identification and molecular methods were used to confirm bacterial identity and gene detection. Escherichia coli was identified in 89/165 (53.93%) of th
... Show MoreBackground: While two-thirds of breast cancers express hormone receptors for either estrogen (ER) and/or progesterone (PR) , genetically altered PI3K pathway was found in more than 70% of ER-positive breast cancers.An aberrant activity of cyclin-dependent kinase 1 (CDK1) in a wide variety of human cancers has selectively constituted an attractive pharmacological targets in MYC-dependent human breast cancer cells.
Aim of the study: Role of p110-beta as well as and CDK 1 in the pathogenesis of subset of breast cancers and contribution in their carcinogenesis.
Type of the study: is a retrospective study
Methods: This retr
... Show MoreCervical carcinoma represent the second predominant cancer in female and there is a strong correlation between cervical cancer and the infection with high-risk types of HPV and expression the viral oncogenes. EMT is viewed as a vital advance in carcinoma development and ensuing metastasis. To evaluate correlation between the expression of Twist and HPV16 infection in a group of Iraqi patients with cervical carcinoma. A total of forty paraffin blocks included in this study which were divided into 30 sample of cervical cancer infected with HPV16and 10 sample of normal cervical tissues. The samples were subjected to immunohistochemical technique using Anti-Twist2 polyclonal antibody. The obtained data from this study indicate that majority of
... Show MoreNanostructured Al2O3has been applied as a protective coating against corrosion of the carbon steel (C.S) in seawater environment (3.5% NaCl) at temperatures range (298-328)K. Aluminananoparticles were deposited on carbon steel substrates by cathodic electrophoretic deposition (EPD) with ethanol as suspension medium and poly(acrylic acid) (PAA) as polymeric charging agent. Meanwhile, thesurface morphology was examined using Atomic-force microscopy (AFM). The cross-section AFM showed that the particles sizes for the Al2O3 NPs is around 60-80 nm. The anticorrosion behaviour of coated C.S was investigated in 3.5% NaCl at temperature range 298-328 K by potentiodynamic polarization measurements. Results show that using PAA in suspension coat incr
... Show MoreThis research aims to study the methods of reduction of dimensions that overcome the problem curse of dimensionality when traditional methods fail to provide a good estimation of the parameters So this problem must be dealt with directly . Two methods were used to solve the problem of high dimensional data, The first method is the non-classical method Slice inverse regression ( SIR ) method and the proposed weight standard Sir (WSIR) method and principal components (PCA) which is the general method used in reducing dimensions, (SIR ) and (PCA) is based on the work of linear combinations of a subset of the original explanatory variables, which may suffer from the problem of heterogeneity and the problem of linear
... Show MoreThis study was performd on 50 serum specimens of patients with type 2 diabetes, in addition, 50 normal specimens were investigated as control group. The activity rate of LAP in patients (560.46 10.504) I.U/L and activity rate of LAP in healthy(10.58 4.39)I.U/L.The results of the study reveal that Leucine aminopeptidase (LAP) activity of type 2 diabetes patient s serum shows a high signifiacant increase (p < 0.001) compare to healthy subjects. Addition preparation leucine amide as substrate of LAP, identification melting point and spectra by FTIR. K
This case series aims to evaluate patients affected with post COVID‐19 mucormycosis from clinical presentation to surgical and pharmacological treatment to improve the disease prognosis.
This case series was conducted at a specialized surgery hospital in Baghdad Medical City for over 10 months. Fifteen cases who had mild to severe COVID‐19 infections followed by symptoms similar to aggressive periodontitis, such as mobility and bone resorption around the multiple maxillary teeth, were included in this case series.
Econazole nitrate (EN) is considered as the most effective agent for the treatment of all forms of dermatomycosis caused by dernatophytes. It was formulated as a topical solution in our laboratories. This study was designed to evaluate the effectiveness of Econazol Nitrate in the prepared formula and compared with that of commercial brand, Pevaryl®. A total of 104 patient suffering from dermatomycoses were involved in this investigation. Both formula were applied to the affected skin region in the morning and evening from week to 16 weeks with light massage until complete healing effect was achieved. The data revealed that the percentage of cured patient treated with the prepared formula and reference formula of Ecanozol Nitrate 1% so
... Show MoreBackground: Manuka honey (MH) is a mono-floral honey derived from the Manuka tree (Leptospermum scoparium). MH is a highly recognized for its non-peroxide antibacterial activities, which are mostly related to its unique methylglyoxal content (MGO) in MH. The beneficial phytochemicals in MH is directly related to their favorable health effects, which include wound healing, anticancer, antioxidant, and anti-inflammatory properties. Aims: The purpose of this study was to evaluate the effect of MH on pro-inflammatory cytokines (IL-8 and TNF-α) in patients with gingivitis and compare it with chlorhexidine (CHX) and distilled water (DW). Materials and Methods: This study was a randomized, double blinded, and parallel clinical trial. Forty-fiv
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