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.
Background: Pulpotomy is an accepted treatment for the management of cariously exposed pulps in symptom free primary molars to achieve one of the most important goals for Pedodontists, which is the retention of the pulpally involved deciduous teeth healthy until the time of normal exfoliation. The purpose of this study was to evaluate the relative success of pulpotec, formocresol and Mineral Trioxide Aggregate (MTA) in cariously exposed primary molar teeth, using clinical and radiographical examinations. Materials and methods: Thirty nine children with 45 primary molars requiring pulpotomy were selected in this study, 15 teeth treated by each type of pulpotomy medicament. Clinical and radiographical follow up for the patients was performed
... Show MoreSummary 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
... Show MoreAirway-centric orthodontics has been proposed as a conceptual framework that extends the traditional understanding of craniofacial development, functional disturbances, and orthodontic treatment outcomes beyond a purely dental perspective. This approach focuses on the potential interplay among upper airway characteristics, breathing patterns, and orofacial muscle function in influencing facial growth and occlusal relationships. This narrative review aims to outline the theoretical foundations of airway-centric orthodontics and to synthesize current evidence regarding the associations among upper airway characteristics, craniofacial morphology, and orthodontic interventions. A compr
The drill bit is the most essential tool in drilling operation and optimum bit selection is one of the main challenges in planning and designing new wells. Conventional bit selections are mostly based on the historical performance of similar bits from offset wells. In addition, it is done by different techniques based on offset well logs. However, these methods are time consuming and they are not dependent on actual drilling parameters. The main objective of this study is to optimize bit selection in order to achieve maximum rate of penetration (ROP). In this work, a model that predicts the ROP was developed using artificial neural networks (ANNs) based on 19 input parameters. For the
Pregnant women who have rubella may potentially pass the infection on to their unborn offspring. A congenital rubella infection can result in a miscarriage, stillbirth, and congenital rubella syndrome. The only member of the Togaviridae family’s Rubivirus genus, the Rubella virus (RV) is a positive-polarity, single-stranded RNA virus genome surrounded by a lipoprotein envelope with spike-like, hemagglutinin-containing surface projections.The objective: to determine the Rubella virus (1E genotype) in pregnant woman and its relation to spontaneous miscarriage.Materials and methods. A total of 174 women which visited Al-Elweya Teaching Hospital, Baghdad, Iraq, were screened according to the following criteria: women with a history of
... Show MoreThis review discusses the gingival biotypes, their characteristics, analysis based on the measurement of the dentopapillary complex. Also discuss their response to inflammation, surgery, and ridge healing after tooth extraction, their influence in the behavior of the peri-implant tissue
Increasing need for day after day to find ways and innovative means of
helping to educate and give children the skills of different kind, has found a
researcher on the subject of hats, six room to give children language skills
through the experience of field reconnaissance conducted on the three
children found that language skills improved, he decided to make these study.
Objectives of the study:
Understand the differences between the experimental group first (the way the
debate) and second (six caps) depending on the test post administration.
to identify the language skills of the second group according to the pre and
post test
Differences between males and females in the second group (Six Hats)
Search T
Background: Thrombasthenia is an inherited genetic disorder affecting platelets, which is characterized by spontaneous muco-cutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. Objectives: The aim of this study was to assess the diagnosis and treatment of thrombasthenia in Children Welfare Teaching Hospital. Type of the study: A cross-sectional study. Methods: This descriptive study was performed on 66 patients with thrombasthenia from the first of October 2013 till the first of July 2015.The diagnosis of the disease was done by a wide spectrum of characteristics including family history, clinical manifestations, laboratory tests.. Results: The common manifestations of the disease at time of diagnosis wer
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