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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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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.

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Publication Date
Mon Jan 01 2018
Journal Name
Current Research In Microbiology And Biotechnology
Detection of some Physiological and Immunological parameters in Iraqi clinical and subclinical hypothyroid patients: Relationship study
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The present study was performed to evaluate the level of some risk factors (biochemical and immunological) in hypothyroid Iraqi patients considering the different thyroid functional states (hypothyroidism and subclinical hypothyroidism).The study includes 82 patients clinically diagnosed with hypothyroidism. Three study groups have been investigated: (47 clinical hypothyroid patients, 12 subclinical hypothyroid patients 23 healthy individuals) of different ages. This study, show that the proportion of females (83.3 %), (87.2%) in subclinical and clinical hypothyroidisim respectively higher than the proportion of males (16.7%),(12.8%) in subclinical and clinical hypothyrodism respectively of the total patients.The majority of subclinical hyp

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Publication Date
Fri Dec 15 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Effectiveness of Intra articular Injection of Platelet-Rich Plasma in Patients with Anterior Disc Displacement with Reduction
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Background: Anterior disc displacement with reduction (ADDWR) is the most common form of the internal derangement (ID) of temporomandibular joint (TMJ). It is a painful progressive dysfunction and clinically characterized by reciprocal clicking due to shift in the disc anteriorly in relation to the condyle and fossa during mandible elevation. Minimally invasive therapy such as intra-articular injection of platelet-rich plasma (PRP) has been used. PRP is a natural autologous product with a high platelet concentration obtained by centrifugation process to enhance tissue healing through several growth factors (GFs), which are released after endogenous activation. The aim of this study is to assess this technique which is increasingly used toda

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Publication Date
Thu Jun 23 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Correlation between Seminal Fructosamine and Glycosylation Gap and Some Sex Hormones in the Young Infertile Male in Mosul City
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Infertility represents a growing health problem in Mosul city and worldwide. Infertility defined as a failure to induce pregnancy after unprotected sexual intercourse for more than 12 months. Infertility in male is a multifactorial complex pathology that leads to different types of problems. This work try to explore the correlation between glycosylation gap and seminal fructosamine and another parameter in the young male patient in Mosul city. The study included 50 subjects with age range 19-29 year with BMI 18-26. The infertility group include 25 patients newly diagnosed with infertility before starting any treatment; have no infection and no structural abnormality. The control group included 25 healthy subjects. HbA1c, fructosamine, Se

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Publication Date
Sat Dec 11 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Study the Distribution of Rotavirus Genotypes in Vaccinated and non Vaccinated Children in Babylon Province
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Rotaviruses, a major cause of gastroenteritis in children worldwide accounts for around half a million deaths annually. Vaccine against the virus has been recommended by the WHO to be involved in the national immunization program.To evaluate the genetic characterization of rotavirus among children with acute gastroenteritis in Babylon province is warranted. Children complained of diarrhea with rotavirus infection detected in their stool were involved in the study. The age range was 10 months to 60 months and with retrogradechecking of rotavirus vaccine history. Rotavirus genotypes were detected by reverse transcription-polymerase chain reaction (RT-PCR).A total number of 40 children with rotavirus gastroenteritis were used to examine the

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Publication Date
Fri May 01 2020
Journal Name
Plant Archives
Correlation study of retinol binding protein(-4), nesfatin and thyroid hormones in colorectal cancer Iraqi Male patients
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The third most ordinarily cancer type diagnosed in male and is Colorectal cancer (CRC) and it is widely spread in developed countries. Most of CRC arises from development of adenomatous polyps. The current study aimed to determine whether serum retinol binding protein 4 (RBP4) and Nesfatin-1 can be used as a novel biomarker for diagnosis of CRC. Nesfatin-1, RBP4 and Thyroid Hormones (T3, T4 and TSH) levels were measured in fifty sera of male patients suffering from CRC before chemotherapy initiation treatment as G1, G2 after first chemotherapy cycle dose and G3 after second chemotherapy cycle dose compared with twenty five male volunteers as a control G4. The results showed a significant increased in RBP 4 concentration in G3 and a signific

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Publication Date
Mon Jul 01 2024
Journal Name
Medical Journal Of Babylon
Viral Load of HBV and HCV Correlation to Torque Teno Virus (TTV) Co-Infection in Iraqi Patients
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Abstract<sec> <title>Background:

While hepatitis viruses A–E are established, emerging evidence points to additional, novel viral hepatitis agents. The torqueteno virus (TTV) has garnered interest due to its prevalence among patients with hepatitis, suggesting potential hepatotropism.

Aim:

This study was conducted to detect TTV antigens in individuals infected with chronic hepatitis B (HBV) and/or C (HCV) using molecular diagnostics and to explore any associations between TTV presence and demographic characteristics of the cohort.

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Publication Date
Tue Dec 13 2005
Journal Name
Iraqi Journal Of Laser
Clinical Observation and Performance of High Power Diode Laser in the Treatment of Oral Lesions
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In this work, oral lesions belong to 17 patients, 7 males and 10 females. Their ages range between 15 and 45 years. Follow up was conducted after one day, 7 days, 14 days, one month, and finally 3 months postoperatively. The study lasted for 1.5 year. Surgical diode laser with wavelength of 810 ± 20 nm, with two power levels of 10 and 15 W were used in contact and in non-contact mode via optical fiber. The postoperative outcome revealed; greater haemostatic capability, dry, sealed wound and noticeable lack in pain sensation

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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
Measuring the Historical Concepts of Kindergarten Children
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Historical concepts are among the concepts that are difficult to present to the pre-school child except by using modern techniques, as well as the difficulty of making visits to all historical monuments and going back to antiquity and the lack of studies in this area, therefore, we need an attractive medium that children love which is able to convey some abstract concepts that are difficult to teach to children using traditional methods, and among these activities that the kindergarten provides to children are the stories through which they develop their linguistic wealth, consolidate their religious and spiritual inclinations, refine their correct morals, and form their proper attitudes, knowledge and life concepts.

The

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Publication Date
Tue Jan 02 2018
Journal Name
Journal Of Educational And Psychological Researches
The speaking Skill the Children of Kindergartens
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Language is fundamental and important for the development of various skills especially in the kindergarten stage where the child begins to approach others and interact with them linguistically listen to them and make sentences to communicate his ideas to them and without the ability to talk and expression, the child's benefit of his experiences in the kindergarten remains limited.

       And that children at any stage of early education are subject to different stages of linguistic development, and these stages are a fundamental feature in learning, especially for the skills of speaking, listening and reading,  Therefore, the researcher chose the speaking skill the

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Melasma, Melasma-Like Lichen Planus Actinicus, and Butterfly Lichen Planus Actinicus Build up One Spectrum (Clinico-Histopathological Study)
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KE Sharquie, AA Noaimi, MA Al-Shukri, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 3

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