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.
Evaluation of Dot. ELISA test for Diagnosis Visceral Leishmaniasis in Infected Children
Background: Diabetic patients have been reported to be more susceptible to gingivitis and periodontitis than healthy subjects. Many intracellular enzymes like (alkaline phosphatase- (ALP), aspartate aminotransferase- (AST) and alanine aminotransferase- (ALT) that are released outside cells into the gingival crevicular fluid (GCF) and saliva after destruction of periodontal tissue during periodontitis. This study was conducted to determine the periodontal health status and the levels of salivary enzymes (ALP, AST and ALT) of the study and control groups and to correlate the levels of these enzymes with clinical periodontal parameters in each study group. Subjects, Materials and Methods: One hundred subjects were enrolled in the study, with a
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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
... Show MoreCalcifying epithelial odontogenic tumour (CEOT) is a benign odontogenic neoplasm of epithelial origin that secretes an amyloid‐like protein tending towards calcification. This study aims to describe a case series from Iraq of one of the rarest odontogenic tumours.
Clinical and histopathological analysis of Calcifying epithelial odontogenic tumour cases that are archived at the oral pathology laboratory of the college of dentistry (Baghdad University) from 2000 to 2019.
Six cases of CEOT were regi
Orbital varices are vein dilations in the orbit presenting various symptoms. This scoping review synthesizes existing evidence on their epidemiology, clinical features, and treatment efficacy.
Literature was reviewed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. PubMed and Scopus were searched until April 31, 2024, for articles on clinically diagnosed ocular varices detailing diagnostic methods, treatments, and outcomes. Exclusions were reviews, animal studies, and incomplete case reports. Data on study characteristics, diagnosis, management, and o
Background: Non-nutritive sucking habits are common in infants and toddlers. One of the most common non-nutritive sucking habits is pacifier; its prevalence varies from one population to another. This study was conducted to determine the prevalence of pacifier sucking habit among children aged 1-5 years old in Baghdad city and to assess its effect on the occlusion of primary dentition concerning posterior crossbite. Materials and methods: The study was carried out among 1222 children aged 1-5 years old, from which 50 children with continues pacifier sucking habit were chosen to be the study group, compared to 50 children without any sucking habit (control group) matching the study group in age and gender. Children were examined clinically t
... Show MoreObjectives: Assess nurses` practices for children with chemical poisoning, and find out relationship between nurses` socio- demographic data and their practices for children with chemical poisoning.
Methodology: A descriptive correlational design used to achieve the purpose of the study, the study was conducted at Al-Basrah Hospital for Maternal and Children throughout the period 12th of September 2021 to 10th of October 2022. A non- probability sample of (30) nurse at emergency department was selected. The instrument of the study was constructed based on previous literatures that related to study project, which include nurses` socio-demographic data and questionnaire format
... Show MoreConservation of Concept among Children: Semantic Study