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: Leukemia is a group of malignant disorders
associated with increased numbers of blood white blood
cells. Acute leukemia occurs at all ages. Because zinc
influences many body systems and functions, zinc is an
essential nutrient for tissue growth, cellular division,
protein synthesis DNA and RNA replication it also ought to
play a critical role in the growth of tumor. In this study,
serum zinc was estimated in leukemic patients and
compared with healthy subjects.
Methods: The subjects in the present study were; fourtyfour depressed patients aged (14-48 year), thirty-one
apparently healthy subjects were selected as control group.
Their sex and age were comparable to that of patients.
Determin
The use of containers in transportation leads to the reduction in time and effort of the process of loading and unloading of goods as well as protecting the goods from damage and breakage and to reduce the financial costs.
. This development has led also to make changes in the sizes and capacity of ships, therefore changes in the ports must be taken place where they must be provided with an appropriate depth for such vessels, that means the increase in the depth of ports and the establishment of wide storage yards and to provide appropriate mechanisms for handling process.
In this study, the researcher has dealt with this type of transport business in Iraqi ports, namely:
1- Khur Al-Zubair port.
2- Um Qaser port.
In order
Due to the impact of industrial companies on the ransformations and developments witnessed by the world in general nd Iraq in particular, especially in the industrial and economic Jonrnal spects, the liberalization of internal and external trade, and the idoption of the open market policy in Iraq, which led to the intensification of competition between industrial companies and heir products and services, and the increase and diversity of the Onumber of alternatives Available to the public on the one hand, and he diversity and change of their desires and needs on the other hand, which was reflected in the reality of those companies and heir products or services, especially in light of the great challenges facing companies and the deteriorat
... Show MoreThe research current ( features tendency cosmic in contemporary Iraqi configuration) attempt to study the dimensions of the conceptual and philosophical foundations upon which the tendency of cosmic within the period that extended its influence beyond the place where I grew up to be circulated concepts in all parts of the world, it is no doubt that the world is now heading to rapprochement after the tremendous developments in the field of communication technology and reflected heavily on identity concepts, privacy, the concept of nation-states ... etc. to become an individual and a large area of access to other cultures, and all that aroused the interest of contemporary Iraqi artist this interest arising from the desire to keep up with d
... Show MoreA total of 165 clinical sample included Urine, Swab wounds and Burns were collected from Baghdad Governorate. Results showed that rate all isolates of E. coli was 50(30.3%) and rate of urine infection was 46(92%) and rate of swab wounds infection 4(8%). Where was diagnostic based on streaked on MacConkey agar, then single colony was transferred to Eosin Methylene Blue (EMB). Identification some of the biochemical test included: Catalase test, Oxidase test, Indole test, Methyl red, Vogues - Proskauer test and Citrate Utilization test. Then confirmed by the Vitek - 2 Compact System. The ability of E.coli isolate to biofilm formation to be studied it is considered one of the most important factors of virulence and has role in causing injury an
... Show MoreDiarrhea is an important public health problem worldwide, several causes associated with diarrhea especially in population live under poverty and unsafe water use. Different methods are available and use in diagnosis. This study was carried out to compare of various techniques for Giardia lamblia detection and study the association with E coil and Shigella in patients with diarrhea. A total of 100 children with diarrhoea were enrolled into the study, 57 were males and 43 were females, aged from 2 months -16 years were attendant to AL-Imamin AL-Kadhimin Medical City, during the period from May 2014 to February 2015. Stool samples were collected and analysed for Giardia lamblia
... Show MoreObjectives: To identify the effectiveness of instructional program concerning premarital screening of sexual transmitted disease on student's knowledge at Baghdad University and examine the relationship between students' knowledge and certain studied variables. And hypothesis for this study; There is a difference in university student’s knowledge toward premarital screening between pre and posttests of instructional program. Methodology: A quasi-experimental design (pretest-posttest approach) was conducted at six colleges and its college of education ibn rushd, college of political science, college of law, college of literatur
Abstract:
The aim of the current study lies in showing and demonstrating the effect of the independent variable of organizational integrity with its dimensions represented by (organizational optimism, organizational trust, organizational integrity, organizational sympathy) on the dependent variable of strategic drifts through its dimensions represented by (organizational culture, leadership, innovation, strategic planning) .The analytical descriptive approach has been adopted and the questionnaire has been used as a tool to obtain data and information from the sample of (57) people who are at the administrative levels (seni
... Show MoreThe current research dealt with a vital subject contributing In success Iraqi Industrial Companies general and Iraqi Cement state company A market knowledge, It is one of the most important industrial companies that Which serve to fill the local market need Of cement without resorting to import, The problem of research was limited understanding of the importance of the role played market knowledge of the tendencies and desires of competitors, This in turn affects the company's ability to achieve competitive advantages,The research aims to know the extent of adoption Iraqi Cement state company Concept market knowledge And employment achieving Competitive advantage By removing them (Cost, and quality, and del
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