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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
Sun Jan 02 2011
Journal Name
Journal Of Educational And Psychological Researches
CONSTRACION SCALE FOR AUTISTIC CHILDREN
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Autism is considered as one of the most developmental  problems  in the world that interfere with children growth and affect their social ,emotional and cognitive development child with autism used to be normal in his growth but in his development parents started to notice that their child characterize by loneliness and withdrawal himself from the surrounding world with some mannerism behaviors these characteristics used to be manifested children during the 1st  three year of their life .  It appears, one in every 500 birth (The American International Institution for child health 1997. and it would be less in females than makes at 1/4 percent .

    Aim is to b

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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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Publication Date
Tue Oct 14 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Illness Perceptions and Response to Treatment with Romiplostim in Iraqi Patients with Refractory Immune Thrombocytopenia Purpura: A Cross-Sectional Study
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Background: Immune thrombocytopenia is an immune-related disorder that causes an impairment in platelet production and stimulates platelet destruction, causing variable bleeding symptoms. Objective: This study focuses on refractory immune thrombocytopenic purpura patients on romiplostim treatment and their level of illness perception related to treatment response. Method: A cross-sectional study was conducted from May 1st, 2025, to August 1st, 2025. Brief Illness Perception Questionnaires were administered to 84 patients with ITP to collect the data. The study took place at the Hematology and Bone Marrow Transplant Center, Medical City, Baghdad, Iraq. Results: The romiplostim response rate is 21 (25.0%), while the partial response rate is 4

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Publication Date
Fri Mar 29 2024
Journal Name
Iraqi Journal Of Science
Evaluating the Performance and Behavior of CNN, LSTM, and GRU for Classification and Prediction Tasks
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     Deep learning (DL) plays a significant role in several tasks, especially classification and prediction. Classification tasks can be efficiently achieved via convolutional neural networks (CNN) with a huge dataset, while recurrent neural networks (RNN) can perform prediction tasks due to their ability to remember time series data. In this paper, three models have been proposed to certify the evaluation track for classification and prediction tasks associated with four datasets (two for each task). These models are CNN and RNN, which include two models (Long Short Term Memory (LSTM)) and GRU (Gated Recurrent Unit). Each model is employed to work consequently over the two mentioned tasks to draw a road map of deep learning mod

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Publication Date
Tue Jan 02 2018
Journal Name
Journal Of Educational And Psychological Researches
Family violence, its causes and effects on society (women and children)
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Summary of the research Family violence, its causes and effects on society (women and children). Search Goal: The current research aims to identify: 1. Causes of family and social violence (for children and women). 2. How to process. research importance : Domestic violence is a major and devastating problem that has a negative and direct impact on children in particular and women or mothers in general. The problem of domestic violence is linked to many factors and individual, social, economic, psychological and environmental variables, which makes one theory that claims to be inaccurate. It is difficult to understand the nature of family violence without linking it to some of the concepts related to it. The negative effects that may lead

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Publication Date
Thu Oct 25 2018
Journal Name
Al-kindy College Medical Journal
Infectious Causes of Diarrhea Among Neutropenic Children
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Background: Intestinal infections are frequently occur among children with cancer who receive chemotherapy. On the other hand, diarrhea is especially common and severe among cancer patients that develop neutropenia, either due to the disease itself or due to the intensive chemotherapy. There are many causes of diarrhea among those patients, but intestinal infections still an important etiology among them.

Objectives: to study the frequency of diarrhea among neutropenic children, with its infectious etiologies, especially the bacterial, fungal and parasitic causes.

Type of the study:Cross-sectional study.

Methods: the study was done in the Oncology

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Publication Date
Wed Mar 02 2022
Journal Name
Journal Of Educational And Psychological Researches
Pre-Writing Skills of Kindergarten Children Preparation
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The study aimed to design a test of pre-writing skills for public kindergartens in Baghdad city. The test consisted of (25) items applied on a sample of (150) kindergarteners to identify these skills as well as to identify the significant difference between male and female children and if there is a difference between pre-school children and kindergarteners. The results showed the presence of pre-writing skills with a high degree in kindergarten children. The differences were clear in these skills between male and female children and those in pre-school than those in kindergartens. The researcher suggested a number of recommendations and proposals.

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Publication Date
Sun Jan 01 2012
Journal Name
Al-taqni Journal
The Frequency of Urinary Tract Infection According to the Age and Sex in Some of Iraqi Children.
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Publication Date
Sat Dec 31 2022
Journal Name
Al-kindy College Medical Journal
The Correlation between Serum Inositol 1,4,5 Triphosphate Level and Primary Hypothyroidism
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Background: Most primary hypothyroidism patients also experience inefficiency and irregularity. It is possible to understand the significance of myo-inositol in treating the thyroid gland by relating it to the synthesis of thyroid hormones. Study aimed to estimate serum of inositol 1,4,5-triphosphate (IP3) in primary hypothyroidism disorder and through that level it can shed light on whether it is accused of inactivity of the thyroid gland and at the same time open the doors for the use as a treatment.

Subject and Methods: The study was taken from the analytical cross-sectional design.120 subjects were divided into three groups, the first group included 40 healthy subjects, the s

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Crossref
Publication Date
Mon Oct 06 2014
Journal Name
Journal Of Educational And Psychological Researches
The Effect of Increased Correction in Modifying Some Improper Eating Habits in Malnourished Children
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Not necessarily to be malnutrition is a result of poverty and lack of food, it may be the outcome of the wrong food practices; and the lack of knowledge in nutrition basis and chronic diseases. Some studies have confirmed that the more the knowledge in nutrition basis increased, the more the child has well-balanced food.

Unhealthy eating habits spread among children at an early age, which is one of the negative factors affecting the nutritional status they have causing various disorders as a result of lack or increase of food or lack of balance. The signs and symptoms of these disorders can be simple or can lead to deadly diseases.

Training children on proper eating habits in different fields of life is considered the mos

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