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.
Before introducing an accurate description of the publication of news about the Iraqi-British war in the press of the Great Iraqi revolution, it is necessary to note the importance of this research as it examines a remarkable phenomenon that lies at the heart of public attention at this particular time, where we live the repercussions of a new war similar, with some of its facts and activities, to the events of the Great Iraqi Revolution that broke out in many Iraqi cities. Therefore, the results of this research can be a starting point for new research characterization of the phenomenon of news coverage of war in the Iraqi press.
The importance of research in the press of the Great Iraqi Revolution, according to the well-known r
... Show MoreAlkaloids are a group of naturally occurring chemical compounds that contain mostly basic nitrogen atoms . They are a large family of compounds synthesized by plants in addition to the bacteria, fungi, and animals, they often have pharmacological effects. The aim of this study is to isolate and identified alkaloids in a newly studied, wild Iraqi plant named
... Show MoreWriting plays an effective role in developing one's thinking and
enhancing Learning. It is, in fact, a means of widening one's own views about
the world for the numerous uses that it can serve (Samuel, 1988:28).
In regard to the unquestionable significance of writing in the teaching –
Learning process, the traditional approach seems to be far from being able to
put such significance into practice. Traditionalists give priority to formulating
students' ideas before using prescribed rhetorical framework and then
submitting the written product for grading. Emphasis is, therefore, limited to the
prewriting stage where a certain topic is explored, and the role of the teacher is
confined to assigning the topic and
This study investigates the phonological adaptation of diphthongs within English loanwords in Iraqi Arabic (IA). In contrast to earlier small-scale descriptive studies, this study used quantitative content analysis to analyse 346 established loanwords collected through document review and direct observation to determine the diphthong adaptation patterns involved in the nativisation of English loanwords by native speakers of IA. Content analysis results revealed that most GB diphthong adaptations in English loanwords in IA occur in systematic patterns and thus may be ascribed to particular aspects in both L1 and L2 phonological systems. More specifically, the results indicate that the IA output forms tend to maintain the features of the GB i
... Show MoreCommunication and media technologies have seen several changes in the last two decades. These changes put the basis for the emergence of communicative and media practices on several levels including political, economic, technological and artistic. And these, in turn, led to the emergence of new media trends and phenomena in various areas of media worthily to be studied and researched for example online advertisings. Online advert
... Show MoreInfection of the gastric mucosa with Helicobacter pylori is strongly associated with chronic gastritis, peptic ulcer and gastric cancer. Helicobacter pylori virulence factors include a variety of proteins that are involved in its pathogenesis, such as VacA and CagA. Another group of virulence factors is clearly important for colonization of H.pylori in the gastric mucosa. These include urease, motility factors (flagellin), and Superoxide dismutase (SOD). Because of this organism's microaerophilic nature and the increased levels of reactive oxygen in the infected host, we expect that other factors involved in the response to oxidative stress are likely to be required for virulence. Superoxide dismutase is a near
... Show MoreOver the past few decades, the global usage and applications of different kinds of complementary and alternative medicine are greatly exaggerated among the general population, this requires improving the knowledge of all health care provider including pharmacists toward proper and safe use of different complementary and alternative medicine modalities. The current study aims to assess the Iraqi pharmacists' knowledge, use, and recommendation toward complementary and alternative medicine A cross-sectional pilot survey was done on a convenient sample of Iraqi pharmacists. Data were collected using a pretested