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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Sun Jun 15 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Salivary IgA in chronic kidney disease patients undergoing hemodialysis in Missan governorate
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Background: Chronic kidney disease is a worldwide health problem, with adverse outcomes of cardiovascular disease and premature death, can be divided into five stages, depending on how severe the damage is to the kidneys, or the level of decrease in kidney function, the final stage of chronic kidney disease is called end-stage renal disease, salivary immunoglobulin A is the main immunoglobulin found in mucous secretions, including tears, saliva, colostrum and secretions from the genitourinary tract gastrointestinal tract, prostate and respiratory epithelium . It is also found in small amounts in blood.This study aimedto measuresalivary flow rate and salivaryimmunoglobulin Alevels in chronic kidney disease patients on hemodialysis treatment

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Publication Date
Sat Jan 01 2022
Journal Name
Clinical And Experimental Hepatology
Effectiveness of sofosbuvir/ledipasvir in hepatitis C virus infection in children and adolescents with malignancy: tertiary center experience
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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
Cognitive Distortion And Its Relationship of Parenting Reinforcement For Kindergarten Children
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This research aims to identify the cognitive distortion of kindergarten children and its relationship to their parenting reinforcement. The researcher used the descriptive approach, being the closest to reaching the study objectives, To measure the relationship between the research variables, the researcher prepared two questionnaire tools for this purpose, the first for measuring "cognitive distortion", And the second is to measure "parental reinforcement", and each tool consisted of (20) items.                         

After ensuring the validity and reliability of the two research tools and their suitabi

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Publication Date
Mon Jan 01 2024
Journal Name
International Journal Of Clinical And Diagnostic Pathology
Evaluation of transferrin saturation and serum ferritin in assessing body iron status in patients with end stage renal disease
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The study aimed to evaluate the benefits of transferrin saturation percentage (TSAT) and serum ferritin in assessing body iron status, which can influence erythropoietin treatment in patients with ESRD. Forty end-stage renal disease patients on regular hemodialysis participated in this study. Clinical data were obtained. Serum iron, total iron binding capacity, transferrin saturation, ferritin, albumin, creatinine, and C-reactive protein were investigated. Thirty healthy people were enrolled as a control group. ESRD patients had a mean age of 45.1±13.9 years, with 60% being males. They exhibited significantly lower hematocrit (25.3±6.5%), and higher platelet (285.7±148.1x10^9/L) and WBC (9.4±3.1x10^9/L) counts compared to healthy contro

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Publication Date
Tue Aug 15 2023
Journal Name
Al-academy
Formal questioning and its representations in the design of contemporary residential rooms for children with autism
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The formal investigation of the interior spaces of the residential bedrooms for children with autism is one of the basic tasks that should be known by the interior designer. Achieving an atmosphere compatible with his health condition, which contributes to generating a sense of spatial intimacy through the design dimension provided by the interior designer and his tireless endeavor to meet the needs of the child in an internal environment that achieves the functional dimension and spiritual approaches that enhance the child’s sense of spatial belonging and contribute to improving his mood and this positively reflects on his behavior and social integration. The current research has reached the most important design criteria that must be

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Publication Date
Sun Apr 03 2016
Journal Name
Journal Of Educational And Psychological Researches
Psychological adjustment and social relationship with the phenomenon of violence among children in pre-school stage
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The childhood is an important stage in building the character of the individual and where children acquire the most important experiences . providing proper growth requirements of the things follows assist them in achieving a stable and together Childhood is the violence of indicators that can determine whether personal or illness social .the social circumstances experienced community Iraqi and continues through crises successive wars and explosions and the displacement and that these events may lead to changes in the social behavior of individuals and may contribute to the spread of violence in Iraqi society and observed various forms in (home, school, street, and work), so it was natural that a child the first affected by these waves o

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Publication Date
Sat Jun 01 2019
Journal Name
Collegian
Medication adherence and predictive factors in patients with cardiovascular disease: A comparison study between Australia and Iraq
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Publication Date
Wed Jun 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
Potential of Salivary Matrix Metalloproteinase 9 to Discriminate Periodontal health and disease
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Periodontitis is a chronic inflammatory disease resulted from aggravated immune response to a dysbiotic subgingival microbiota of a susceptible host. Consequences of periodontitis are not only limited to the devastating effect on the oral cavity but extends to affect general health of the individual and also exerts economic burdens on the health systems worldwide. Despite these serious outcomes of periodontitis; however, they are avoidable by early diagnosis with proper preventive measures or non-invasive interventions at earlier stages of the disease. Clinically, diagnosis of periodontitis could be overlooked due to certain limitations of the conventional diagnostic methods such as periodontal charting and radiographs. Utilization of re

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Publication Date
Thu Dec 28 2023
Journal Name
The Iraqi Journal Of Veterinary Medicine
Molecular Identification and Phylogenetic Analysis of Salmonella‎ species ‎Isolated from Diarrheal Children and Dogs in Baghdad Governorate, ‎Iraq‎
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This work aimed to use conventional PCR to identify Salmonella‎ spp. that ‎were isolated from diarrheal children and healthy and diarrheic dogs based on four ‎virulence genes, hilA, stn, spvR‎, and marT. Sixteen Salmonella‎ isolates including: 9 ‎isolated from children's diarrhea from three species (S. Typhimurium, S. Enteritidis, S. ‎Typhi) and seven isolated from dogs including (S. Typhimurium, S. Enteritidis, S. ‎Muenchen), were identified primarily by several methods. The PCR products of the 16S ‎rRNA gene were sequenced and examined using BLAST analysis to find differences and ‎similarities between these Iraqi isolates and already-known global strains in order to ‎construct the phylogenetic tree of S.

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Publication Date
Wed May 24 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Comparative Study of Serum lactic Acid, Lactate Dehydrogenase and Lipid Profile in Ischemic Heart Disease Patients and Healthy Control
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 The term ischemic heart disease (IHD) defines a disease spectrum of diverse etiology, with the common factor being on imbalance between myocardial oxygen supply and demand . Fifty patients (30 male and 20 female) attending Ibn- Al- betar cardic center, the mean age of male was 65 years and 58 years for female were included in the present study , Thirty healthy subjects ( 15 male and 15 female ) of matched age were used as control groups.  Some biochemical parameters including lipid and lipoprotein, total cholesterol (TC) , triglycerides (TG), high density lipoprotein (HDL) and low density lipoprotein (LDL), in addition to lactic acid and lactate dehydrogenase (LDH) activities , were evaluated in the sera of IHD patient groups

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