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 MoreBACKGROUND: Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature. AIM OF THE STUDY: To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not. METHODS: During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of
... Show MoreThe High Power Amplifiers (HPAs), which are used in wireless communication, are distinctly characterized by nonlinear properties. The linearity of the HPA can be accomplished by retreating an HPA to put it in a linear region on account of power performance loss. Meanwhile the Orthogonal Frequency Division Multiplex signal is very rough. Therefore, it will be required a large undo to the linear action area that leads to a vital loss in power efficiency. Thereby, back-off is not a positive solution. A Simplicial Canonical Piecewise-Linear (SCPWL) model based digital predistorters are widely employed to compensating the nonlinear distortion that introduced by a HPA component in OFDM technology. In this paper, the genetic al
... Show MoreThis 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
... 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
Environmental exposures to lead remain a serious problem in the developing and industrializing countries. Children are the highest risk aged-group for lead poisoning. This study was designed to assess lead exposure in Al-Fallujah city by analyzing blood lead levels in children and adults and to explain the relationship between blood lead levels, hematological parameters and ferritin levels in the children. The study was performed on-(90) subjects, (65children and 25 adults).Venous blood samples were taken for estimation of hematological parameters, serum ferritin levels and blood lead levels. The children group was subdivided into four groups as: group (A) (low ferritin, low Hb), group (B) (low ferritin, normal Hb), group (C) (normal fer
... Show MoreThe 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
... Show MoreThe 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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