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.
Abstract:
The aim of this research to try to determine the type of expected relationship between inflation as the explanatory variable and market performance as a dependent variable, for that used data issued and published by the Central Bank of Iraq and the Iraqi Stock Exchange for a sample consisting of (159) observations using the intentional or intentional sampling method for the period extending between the months (January 2010 to March 2023), in the light of each of the Consumer Price Index (CPI), the Iraqi Stock Exchange Index, the number of traded shares and the number of market capital shares to ex
... Show MoreThe problem of this research lies in the fact that there is a lack of accurate scientific perceptions about the size of the use of Iraqi women’s social networking sites and the motives behind this use and the expectations generated by them.
The goals of the research are as follows:
1- Determine the extent of Iraqi women’s use of social networking sites (Facebook, YouTube, twitter, and Instagram).
2- Investigative the motives behind the use of social networking sites by Iraqi women.
3- Detecting the repercussions of Iraqi women’s use of social networking sites (Facebook, you tube, twitter, and Instagram).
The research is classified as a descriptive one. The researchers use the survey methodology. The research commu
Many economists believe that the development and promotion of small and medium-sized enterprises is one of the most important sources of economic and social development in countries in general and in developing countries in particular. This is considered to be an essential starting point for increasing production capacity and contributing to tackling poverty and unemployment. In view of the importance of these projects, most developing countries have concentrated their efforts on them. They have encouraged the establishment of small and medium industries, especially after they have proved their ability and efficiency in dealing with the major problems facing different economies.
The banking system plays an important role by finan
... Show MoreAfter 2003 Iraq witnessed a rapid development in the number and kind of non-governmental organizations in addition to the increase in their sources.A lot of obstacles and constraints hinder the development of the said organizations and one of the most important and prominent obstacles is their administrative and accounting structure that affect directly on the existence, continuity and survival of these organizations.This research discussed the concept the non-governmental organizations and reaching the assessment of internal control System in these organizations. Therefore, the researcher has assessed the internal control System applied National Olympic Committee of Iraq. The study showed vulnerabilities in the internal control the said
... Show MoreIn this study, the results of the uranium concentrations and specific activity in 10 rice samples are described using a solid-state track detector (CR-39). Samples were collected from various local Iraqi markets with different origins (Iraq, India, America, and Thailand). Our findings found that the results of uranium concentration in all studied samples are ranging from (0.55 ± 0.28 to 1.74 ± 0.31) ppm with a weighted average of (1.24 ± 0.99) ppm. Also, results demonstrate that the specific activity values of the studied samples swing between values of (6.88 ± 3.52 and 21.49 ± 3.85) Bq/Kg. The obtained results of the studied rice samples are indicated that it is less than the acceptable limit of those studies established by ma
... Show MoreDetermination of isotopic composition of strontium and Rubidium in some geological samples was performed by using thermal ionization mass spectrometry. The optimum evaporation and ionization currents were determined for each of strontium and Rubidium, employing double rhenium filament by using faraday cup as detector. The results were compared with reference mater ials (NBS Standards) of Sr and Rb. The
radioactive decay of 87Rb to 87Sr was also determined.
The theatrical image represents one of the tools of communication with the other to create a communicative language that is produced and transmitted by the actor and his body through the theatrical space to convey the meaning in all its forms and types. The actor is concerned with the composition and construction of these images. My girl, the image is fragmented and multiple and different. Therefore, based on the foregoing, the researcher has divided his research into four chapters, representing the (methodological framework). First, the research problem, which is manifested in the following question (what is the structure of the fragmented image of the actor's performance? The Iraqi playwright), and secondly: the importance of the resea
... Show MoreDesigning women clothes is one of the application arts has rules and fundamentals and also laws connected the individual , and it is the whole thought and the decorative element for the cloth, in this way it highlighted the aesthetic and functional aspects which achieving the basic objective of existing the design, and the design has motives of designer chisel of the ability to deduct and device new systems and relations of his self sense of the components from which one could sustain the designing thought.Besides, the cultural and philosophy level to him which considered elements and motives , the researcher depending on them in designing women clothes, and the research problem is limited on the imposing the following question: Could th
... Show MoreThe paper aims at making the Russian reader acquainted with the Iraqi Poet Badr Shakir as-Sayyab, and showing the effect of the village and the city in his soul, the theme which is reflected in his poetry. Therefore, the researcher has translated the verses pertaining to this topic from Arabic into Russian so as to make the Russian reader know the important phases that talk about the village and city. The researcher has concluded that the theme of place, village and city has occupied a good portion of As-Sayyab's poetry, and that he (the poet) hated the city and expressed his wrath against it, because he viewed the city as embodiment of money and the degeneration of man. As opposed to this, As-Sayyab he loved being a farmer, and was
... Show MoreWomen issues occupy an important place in international and development projects and programs. This is one of the goals of 21 Century announced during universal summit conference in 2000. The goals are : teaching children, reducing the average of the dead, in addition to the main goal which is reducing the poor level in 2015.
The increasing number of countries that adopt democratic policies, economic freedom and openness lead to heighten and develop the role of women in different ways. As a result, many feminism journals have appeared. Since journals help people to make decisions about public issues as well as acquiring new knowledge, it stimulates women to make decisions.
Feminism journalism takes a new trend. It has become specia