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.
Background: Early detection of subclinical left ventricular (LV) systolic dysfunction is crucial and could influence patients' prognosis by aiding the clinician to candidate patients for better management.
Objective: To detect early LV systolic dysfunction in asymptomatic patient with chronic aortic regurgitation by two dimensional speckle tracking echocardiography.
Methods: Sixty one asymptomatic patients with chronic aortic regurgitation, with no ischemic heart diseases (by coronary angiography) or conductive heart diseases, no diabetes mellitus, no hypertension, and no other valvular heart diseases (group 1) and fifty age and sex-matched healthy subjects (
... Show MoreCustomers' creditworthiness standards are the key means employed by private commercial banks in assigning a suitable credit assessment for each customer. Accordingly, it had an instrumental role in indicating the degree of solvency of the potential customer before granting the required credit. The research problem reveals the nature of the relationship between the criteria of customer’s creditworthiness and banking liquidity. The most critical objectives of the study shed light on the role of using creditworthiness criteria as a tool for credit analysis of customers by banks that help reducing credit risks and thus increase banking liquidity. The questionnaire that was distributed to bank employees, the research sample, which w
... Show MoreThe research aims to shed light on the internet and how to employ them and to take advantage of applications in scientific research among faculty members, from a survey the opinions of professors at the University of Alanbar and Almustansiriah, to see the reality of use of the Internet and ways to invest in the service of scientific research.
The follow descriptive analysis approach , which is appropriate to the nature of this study concerned with exploring the views on the uses of the Internet. The study reached the field the following results:
1- There are(60) % of respondents use the Internet on an ongoing basis to see new information and keep pace with scientific developments in the field of specialty and the average use of the
This paper presents numerical and experimental stress analyses to evaluate the contact and bending stresses on the teeth of spiral bevel gear drive. Finite Element Method has been adopted as a numerical technique which accomplished basically by using ANSYS software package. The experimental stress analysis has been achieved by using a gear tooth model made of Castolite material which has photoelastic properties. The main goal of this research is detecting the maximum tooth stresses to avoid the severe areas that caused tooth failure and to increase the working life for this type of gear drives.
Cervical cancer is the third most common cancer in women worldwide, and it has the fourth highest mortality rate among cancers in women. The present study aimed to reveal the impact of age factor in cervical abnormalities and cancers incidence in some Iraqi married women. 150 scraping cervical cells samples were collected from the women clinically diagnosed with cervical abnormalities and cancer who were divided into two groups; the first group included the women with abnormal pap smear which revealed 13.33% of women were less than 30 years and followed by 66.66% of women whose age between 30-50 years and 20% of them were more than 50 years old. While the second group iclude the women with normal Pap smear (Healthy women) which revealed tha
... Show MoreCytokines are A type of protein that is made by certain immune and non-immune cells and has an effect on the immune system. Some cytokines stimulate the immune system and others slow it down. Interleukins (ILs) can be divided into several families with more than 40 subfamily members. They can interact with a variety of cells that alter the immune system and act on a wide range of cancers. In the past several years, ILs have attracted substantial attention because of their distinct roles in CRC that provide a new and promising strategy for CRC. In general, ILs facilitate CRC by promoting tumorigenesis, tumour growth, angiogenesis, and cancer cell invasion and metastasis and inhibit CRC via complex pathways. The Bioassay Technology Human Inte
... Show MoreSilymarin (SM) is a plant extract obtained from Silybum marianum( milk thistle) . It is class II type drug according to Biopharmaceutics Classification System with low bioavailability due to its low solubility.
Micro/nanonization during crystallization, surface modification and crystal structure modification may improve the dissolution rate of poorly water-soluble drugs.
The aim of this study was to increase the water solubility and dissolution rate of SM by in-situ micronization using solvent change either by stirring or ultrasonic method. Stabilizers like Gelatin, PVP-K30, HPMC15, Pulullan were used to stabilize the prepared ultrafine crystals. Effect of type and concentration of hydrophilic polymer, solv
... Show MoreSimple, sensitive and accurate two methods were described for the determination of terazosin. The spectrophotometric method (A) is based on measuring the spectral absorption of the ion-pair complex formed between terazosin with eosin Y in the acetate buffer medium pH 3 at 545 nm. Method (B) is based on the quantitative quenching effect of terazosin on the native fluorescence of Eosin Y at the pH 3. The quenching of the fluorescence of Eosin Y was measured at 556 nm after excitation at 345 nm. The two methods obeyed Beer’s law over the concentration ranges of 0.1-8 and 0.05-7 µg/mL for method A and B respectively. Both methods succeeded in the determination of terazosin in its tablets
Abstract\
The developed financial infrastructure is one of the most important elements for achieving stable financial system in a country. The importance of developed financial infrastructure comes from its role in create economic and financial context attractive for foreign investments. Thus, this paper aims first to measure an index of financial infrastructure, and secondly, to gauge the nexus between the developed financial infrastructure and foreign investments inflow in Malaysia and Indonesia. We estimate the index of financial infrastructure by using different indicators such as (the institutional environment, access to finance, legal environment, and others).
By using the G
... Show MoreThis systematic review aimed to analyse available evidence to answer two focused questions about the efficacy of erythritol powder air‐polishing (EPAP) (i) as an adjunctive during active periodontal therapy (APT) and (ii) as an alternative to hand/ultrasonic instrumentation during supportive periodontal therapy (SPT). Additionally, microbiological outcomes and patient's comfort/perceptions were assessed as secondary outcomes.
PubMed, Cochrane and Medline were searched for relevant articles published before February 2021 following PRISMA guidelines. The search was conducted by three indep