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.
The researcher seeks to know the extent of applying the concept of design by Iraqi electronic press sites to provide media product with the acceptance of their browsers and ensure their repeated visits to such sites in the framework of the guiding rules for laser browsing. The researcher uses analytical study on a sample of six Iraqi electronic newspaper sites to identify the general features of their design and the methods of distribution of the structural elements of the pages. The researcher also conducts a field study on a sample of the surfers of electronic newspaper sites to see the extent of their evaluation to their design and the degree of their satisfaction.
There are numerous bidirectional interactions between the reproductive system and the liver. Sex steroids regulate metabolic health through signaling effects in both peripheral and central metabolic tissues, including adipose tissue, liver, skeletal muscle, and brain, and have a role in the etiology of structural and functional liver diseases. Blood samples were obtained from 90 healthy women (control group) and 90 women that have hormonal changes (patients’ group). The levels of reproductive hormones (follicle stimulation hormone/FSH, luteinizing hormone/LH, estradiol/E2, progesterone/P4) were measured by using fully automated Cobas E411, whereas those of liver enzymes (alanine transaminase /ALT, aspartate aminotransferase/AST, a
... Show MoreThe value of culture in its interaction is composed and formulated according to compatible and incompatible roles which view the identity that adopts that formation although it is in most cases perceived and declared. The attraction and difference characteristic might be implied within subjective and procedural meaning through which it seeks to make the identity mobile subject to identity- shaping cultural causes implying the conflicts that take the shape and culture of real time. As for the end of the twentieth century and afterward where the concepts of hegemony, globalization, cultural invasion, colonial and imperial culture, all these causes made the cultural identity concept appear on the surface of the critical studies as a
... Show Moreاستهدف البحث تشخيص وتحليل الاسباب التي تجعل المرأة العراقية أكثر تأثراً من الرجل بعوامل التغيرات المناخية، فضلاً عن زيادة الوعي بقضية المرأة في هذا المجال، لأن موضوع دمجها في صياغة السياسات والاستراتيجيات المتعلقة بالتغير المناخي أصبح قضية عالمية، ويحتل مرتبة متقدمة في مؤشرات تحقيق أهداف التنمية المستدامة، وأستخدمت الباحثة المنهج الوصفي والتحليلي والاحصائي في تحليل محاور البحث، وتوصل البحث الى إستن
... Show Moreخلفية البحث: المتلازمة الأيضية عند المرضى العراقيين المصابين بالمتلازمة التاجية الحادة قليلا ما تمت دراستها. الأهداف: دراسة الخصائص المجتمعية-السكانية للمرضى العراقيين المصابين بالمتلازمة الايضية مع المتلازمة التاجية الحادة. المرضى وطرق العمل: شملت الدراسة المقطعية 150 مصابا بالمتلازمة التاجية الحادة الذين يعالجون في وحده العناية القلبية في مستشفى اليرموك التعليمي في بغداد للفترة من منتصف كانون الث
... Show MoreThis study is an attempt to find whether arginine metabolism dysregulation by arginase activity is related to hyperglycemia, followed by changes in nitric oxide (NO) generation in type 2 diabetic patients. This study includes 42 control subjects (Group I), and 92 Iraqi patients with type 2 diabetes mellitus (T2DM). The patient group was subdivided into two groups: Group II (54) with T2DM only and Group III (38) with T2DM and dyslipidemia (who were treating with atorvastatin along with diabetes treatment). The samples were obtained to measure arginase activity and NO levels. Serum arginase activity increased significantly in patients(groupII and groupIII) compared to control group. While serum NO level was significantly lower in diabetic pa
... Show MoreThe present work aimed to investigate the neuraminidase (nan1) gene expression in 32 different clinical isolates of Pseudomonas aeruginosa to explore the role of the enzyme in different types of infection and might give a better understanding of host cell-pathogens interaction. In addition, the effect of monosaccharide D-mannose on neuraminidase gene expression in eight isolates was studied by utilizing a reverse transcription-quantitative polymerase chain reaction (RT-qPCR). The results demonstrated that the highest expression of nan1 gene was in otitis samples (208,913.81) which were significantly higher than that from other infections (P < 0.01). While, the concentrations of gene copies obtained from urin
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