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 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 More
The research aims to build an integrated frame of knowledge for the basic research topics, represented by (assimilation of knowledge, strategic clarity) and their basic variables, by examining the most important scientific propositions on these topics in administrative thought, and framing the knowledge contained in them, in a serious attempt to provide appropriate answers to questions The research dilemma, and the research was applied in the Iraqi Airways Company, whose number is (1200) employees, and the descriptive and analytical approach was adopted in conducting the research. A valid form for statistical analysis, i.e., with a retrieval rate of (92%). The two researchers used the (SPSS & AMOS) program for
... Show MoreThe capital in the bank is the important element in establishing it, because it maintains the banking sector in the event of exposure to losses or risks In addition to contributing to the provision of liquidity And protection of depositors' money from potential and unexpected losses. There is also a relationship between the prices of shares and the indicators of the durability of the capital owned, considering that the shares are the components of the bank capital The study limited the indicators of capital to assets and capital to deposits, capital to loans and financial investments Where the most important conclusions are the damage to the detriment of shareholders in contrast to the depositors in the case of increasing the propo
... Show MoreAbstract:
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 current study aims to investigate the relationship between lipid peroxidation, represented by seminal malondialdehyde (MDA) level, and integrity of sperm plasma membrane, represented by the hypo-osmotic swelling (HOS) test score, in infertile men. One hundred and twenty Iraqi men (20 fertile and 100 infertile) shared in this study during their attendance to the High Institute for Infertility Diagnosis and Assisted Reproductive Technologies/Al- Nahrain University. The mean age of the fertile men was (30.46±0.78) years while the mean age of infertile men was (32.58±0.64) years with the duration of infertility (5.36±0.33) years. Semen samples were collected and the parameters of seminal fluid analysis were assessed; also, the HOS
... Show MoreIn this work, corrosion parameters were evaluated using potentiodynamic polarization curves. In order to determine corrosion parameters of potential and current density of the interesting metal, carbon steel, environmental conditions of external corrosion of buried carbon steel pipeline in Iraqi soil were prepared in the laboratory using simulated prepared conditions. Solutions of sodium chloride at different concentrations (300, 1100, 1900, 2700, and 3500 ppm) were used. pH of solution were acidic at pH =5, and alkaline at pH = 9. Laboratory conditions were similar to those of Iraqi soil where the pipelines were buried. Temperature was constant at 20 °C. Potentiodynamic polarization curves, of potential vs. log current density, were ob
... Show More