Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
To assess the use of miniaturized percutaneous nephrolithotomy (mini-PCNL) for renal stones in children, as well as its safety and efficacy. Seventy-seven patients with more than 15 mm renal stones whose age was less than 15 years were enrolled in this prospective case-controlled study at Al-Ramadi Teaching Hospital, Ar Razi Private Hospital, and Ghazi Al-Hariri Hospital for Surgical Specialties, Anbar and Baghdad, Iraq. The study was conducted from January 2020 to January 2024. The group mentioned above served as group A, and it was compared to the control group (group B), which consisted of 70 adult patients aged 18–60 years. Patients in both groups underwent mini-PCNL. Gender, stone size and location, time of operation, stone-free rate
... Show MoreThis study includes replication and attenuation of foot and mouth disease virus type O which isolated from infected calves. Many passages for the virus in chick-Embryo were established as a substitute method to the tissue culture which is highly caustic in contrast to the chick embryo. The virus passed ten consequent passages which lead to the reduce of the titer of the virus from 106.53 TCID50/ 0.1 ml in cattle testis tissue culture to 103 TCID50/ 0.1 ml. the pathogenecity of attenuated FMD virus were also studied in both chick-embryo and guinea pigs. Using agar gel diffusion test precipitation antibodies was detected in guinea pig serum after 14 and 21 days post exposure to the attenuated virus. The inoculated guine
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This study aims to identify the most important legislatures and legal frameworks pertaining to advertisement for children. It focuses on the western approach, which is characterized by the variety of its perspectives in presenting issues and in identifying problems. However, if studies show that there is a certain awareness about the advertisement impact on children, it is obvious that most of legislatures reject the laws restricting the broadcast advertising spots intended for children under 12 years of age, with the exception of the Swedish and the Canadian province of Quebec experiences, which opted for total ban on advertising spots broadcast messages targeting children. |
The inflammatory bowel disease (IBD), Crohn’s disease (CD) and ulcerative colitis (UC) are heterogenous chronic inflammatory disorders of the gastrointestinal tract. The most widely accepted etiopathogenic hypothesis for these disorders suggests an immune mediated process.
Objective: This study was performed to evaluate the role of interleukine-33 in pathogenesis of inflammatory bowel disease and to correlate their levels with the disease activity and/or severity.
Methods: Fifty five subjects with inflammatory bowel disease (41 ulcerative colitis patients and 14 Crohn’s disease patients) their ages range from 16-65 years and 25 apparently healthy volunteers their ages and sexes were matched with the patients were participated i
A Spectroscopic study has been focused in this article to study one of the main types of active galaxies which are quasars, and to be more precise this research focuses on studying the correlation between the main engine of Quasi-Stellar Objects (QSO), the central black hole mass (SMBH) and other physical properties (e.g. the star formation rate (SFR)). Twelve objects have been randomly selected for “The Half Million Quasars (HMQ) Catalogue” published in 2015 and the data collected from Salon Digital Sky survey (SDSS) Dr. 16. The redshift range of these galaxies were between (0.05 – 0.17). The results show a clear linear proportionality between the SMBH and the SFR, as well as direct proportional between the luminosit
... Show MoreAn essential issue in obstetrics is the prevalence of maternal and fetal complications in pregnant women with polycystic ovary syndrome (PCOS). The purpose of the present study was to investigate the prevalence of pregnancy complications among various phenotypes of pregnant women with PCOS.
Autism Spectrum Disorder, also known as ASD, is a neurodevelopmental disease that impairs speech, social interaction, and behavior. Machine learning is a field of artificial intelligence that focuses on creating algorithms that can learn patterns and make ASD classification based on input data. The results of using machine learning algorithms to categorize ASD have been inconsistent. More research is needed to improve the accuracy of the classification of ASD. To address this, deep learning such as 1D CNN has been proposed as an alternative for the classification of ASD detection. The proposed techniques are evaluated on publicly available three different ASD datasets (children, Adults, and adolescents). Results strongly suggest that 1D
... Show MorePsoriasis is a chronic autoimmune inflammatory skin condition characterized by uncontrolled keratinocyte proliferation and potential systemic manifestations. Its pathogenesis involves activation of both innate and adaptive immune responses, leading to an imbalance in inflammatory cytokines. Interleukin (IL)-12 and IL-23 are key cytokines in the pathophysiology of psoriasis and sustain chronic skin inflammation. Biologic therapies, such as ustekinumab (UST), have been developed to induce long-term remission in moderate-to-severe psoriasis. The objective of this study was to identify differences in serum levels of inflammatory biomarkers [erythrocyte sedimentation rate, high-sensitivity C-reactive protein (hs-CRP), IL-12, IL-17, IL-22, and IL
... Show MoreBackground: Bloody diarrhea plays a major role in
morbidity and mortality especially in developing
countries, it is usually a sign of invasive enteric
infection, there is a thought that amoebic dysentery is
more common than bacillary dysentery in Iraq, and
from 1989 to 1997 amoebic dysentery increase from
20000to 550000 patients.
Objectives: This study aims to:
1. Outline the incidence of various infectious causes of
bloody diarrhea in Erbil district.
2. Assess the effect of multiple factors like age, sex,
source of water supply, etc... On the incidence of
amebic and bacillary dysentery.
3. To provide baseline data for making strategic plan to
reduce the diarrhoeal mortality and morbidity.
Met