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.
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 MoreBackground: 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
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
... Show MoreThe present search addressed the " leadership skills and their impact on strategic planning " Where has the objective of leadership skills and strategic planning of increasing importance at the present time , for being fairly modern topics ,which have a tremendous impact on the success of organizations.. &n
... Show MorePermeability is an essential parameter in reservoir characterization because it is determined hydrocarbon flow patterns and volume, for this reason, the need for accurate and inexpensive methods for predicting permeability is important. Predictive models of permeability become more attractive as a result.
A Mishrif reservoir in Iraq's southeast has been chosen, and the study is based on data from four wells that penetrate the Mishrif formation. This study discusses some methods for predicting permeability. The conventional method of developing a link between permeability and porosity is one of the strategies. The second technique uses flow units and a flow zone indicator (FZI) to predict the permeability of a rock mass u
... Show MoreSince the nineties of the last century, Iraqi youth have been exposed to Mexican soap operas dubbed into classical Arabic, and the stories and ideas presented by these series were almost new to all the minds of the youth at that time, a culture completely different from the culture we have of social relations, and since the number of episodes was more than Of the 100 episodes, exposure to these series has left young people confused by the addiction to all their ideas and stories. They differ from the foreign films (mostly American) that we used to watch, and they only take two hours (at most). These films contain diverse stories and may be forgotten. Memory includes events and characters in their entirety at times, and you may remember th
... Show MoreThyroid hormones (TH) regulate the metabolic processes required for normal development and growth; also, to organizemetabolism in adults, any defect in thyroid function leads to abnormality in thyroid hormones level. The current study hasbeen designed to find the relationship between retinol-binding protein-4 and progranulin in the serum of Iraqi women withhypothyroidism and hyperthyroidism, also, to study whether these patients are exposed to a risk of developing diabetes mellitus,and PGRN may be a biomarker in detection early stage of diabetes mellitus.Materials and Methods: in this study, serum samples were obtained from 50 Iraqis women patients, [25 patients withhypothyroidism (G2) and 25 patients with hyperthyroidism (G3)] in addition
... Show MoreBackground: Community pharmacists endure significantly elevated levels of work-related stress and depression, posing a threat to their overall well-being and possibly affecting the quality of patient care. Objectives: To explore workplace-associated stress and depression in Iraqi community pharmacists. Methods: This observational study was conducted using a cross-sectional design. Information was gathered through the utilization of an internet-based survey. The study involved a community pharmacist with a minimum of one year of experience working at community pharmacies. The survey utilized pre-validated questionnaires. The level of stress experienced was assessed using the Perceived Stress Scale (PSS)-10, while the level of depression was
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