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.
In his life, a person engages in different types of verbal and actual dispositions that result in various effects, some of which are necessary and not valid, such as selling, and some are not necessary for one of the two contracting parties, such as a mortgage or both, such as lending and agency. However, there are some actions that are sometimes necessary and not necessary at other times, such as a gift that indicates in its simplest sense. Owning money for another without compensation, it is one of the doors of benevolence and benevolence, and it is one of the attributes of perfection with which God, may He be glorified and exalted be He, described Himself. - And if this analogy is the difference - and distanced himself from greed, the
... Show MoreThis study aims to identify the role of satellite channels in imparting behavior to children from the point of view of their parents in Tulkarm city. The researcher used a descriptive technique. A sample of (18000) males and females married couples was used above 20 years old in the city of Tulkarm. The study sample size is (201) married couples. It took place in September 2020. The questionnaire was the main tool for collecting data. The study found that the total degree of satellite channels contribution in imparting negative behaviors to children was high, as it reached (72.20%). The total degree of the role of satellite channels in imparting positive behaviors to children was medium, reaching (69.20%). Moreover, the results also indi
... Show MoreSince its inception, the theatrical performance has been based on the principle of permanence, continuity, renewal and innovation in the structure of its visual elements. These innovations and the effectiveness of continuity cannot be achieved without searching for everything that is new and different at the level (form and content) in order to create an image with innovative and effective features in the theatrical discourse, and from Among the elements of the theatrical performance (theatrical costumes) that have been subject to variation since the beginning of the theater until now, and for this purpose, the current research was conducted with the question of the research problem: What are the variations of costumes in the contemporar
... Show MoreThe Colour is one of important aspect of human activity, especially in General arts and press, and also is one of the essential elements to achieve and build the idea of design technology in the appropriate places, according to the space of designs work.
In a view of the colour and its relationship with the Semiotics, we can find that the objectives goals at the point of visual formats that’s «oral or written”. In last years, the intellectual concerns of Semiotics through eye contact methods, that’s meaning contact methods for get messages of sense of sight.
The semiotics term Can be defined into: (the sequential feature or network system has relations according agreed language rules, in a particular environment, also is a g
Corruption is one of the barriers to economic growth and investment opportunities, and after the most serious security and stability, that corruption plagued the Iraqi economy is striking and has roots since the eighties of the last century to the present day.
The study aimed to identify practical impact of corruption on investment in the Iraqi economy and revealed the possibilities and obstacles to investment in Iraq and clarify the investment opportunities at the level of Iraq and the impact of corruption on investments.
The focus will be on the statement of the extent of corruption and investment in Iraq and the adoption of the style of economic measurement using cross-section
... Show MoreThe work in this research presents an experimental and a theoretical study to obtain the effect of using a low permeability geosynthetic material on the longitudinal and lateral coefficients of dispersion. This would have its effect on the contaminants migration through an isotropic, homogenous and saturated soil. The first stage of this research involves the study of the geosynthetic material and in calculating the longitudinal and lateral coefficients of dispersion for an Iraqi sandy soil by using an experimental set-up to simulate the processes. To investigate the effect of using a geosynethtic material on the dispersion coefficients, the test was conducted for each velocity that was used in the experimental work and as follows: with
... Show Moreيشكل السياق جانبا مهماً في فهم الخطاب والمقصود هنا العرض المسرحي، من خلال ما يمده السياق للمتلقي من مؤشرات، يتم الاعتماد عليها في استكمال المعنى الظاهر بالمعنى المستتر، فالسياق يعتمد في الاصل على المحيط المادي الاجتماعي الذي يتم فيه التواصل وفيه يتعرف المرسل والمتلقي أحدهما على الآخر وتتبلور الصورة التي يحملها الطرفان أحدهما عن الآخر، الى جانب كونه يمثل الاحداث التي سبق لهما أن عاشاها والتبادل القولي
... Show MoreBackground/Objectives: The purpose of this study was to classify Alzheimer’s disease (AD) patients from Normal Control (NC) patients using Magnetic Resonance Imaging (MRI). Methods/Statistical analysis: The performance evolution is carried out for 346 MR images from Alzheimer's Neuroimaging Initiative (ADNI) dataset. The classifier Deep Belief Network (DBN) is used for the function of classification. The network is trained using a sample training set, and the weights produced are then used to check the system's recognition capability. Findings: As a result, this paper presented a novel method of automated classification system for AD determination. The suggested method offers good performance of the experiments carried out show that the
... Show MoreGrowth is a multifactorial process influenced by genetic, nutritional, hormonal, psychosocial and other factors including the general health of a child. Epilepsy defined as a chronic condition characterized by recurrent clinical events or epileptic seizures, which occur in the absence of a metabolic or toxic disease the drugs that use in the treatment of this condition can affect patients growth due to their mechanisms of action. This study aimed to evaluate the effect of some antiepileptic drugs on growth (height and weight) in children with epilepsy. This work involved 51 newly diagnosed children with a different form of epilepsy (Generalized, absent and partial). Patients divided into three groups according to the treatment (group one
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