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.
استهدف 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 MoreBackground: Obesity represents a clear and
present danger to the health of children and
adolescents. Its prevalence among American
youth has doubled in the past 3 decades, and
there are now more overweight and obese
adults in the United States than adults of
normal weight.
Objectives of the study:
1- Finding whether screen watching among
adolescents has an effect on increasing
prevalence overweight and obesity.
2- The effect of other variables like physical
activity, eating in front of screen, eating under
stress on obesity and overweight among the
subjects sample.
Patients &Methods: During 3 months period a
cross sectional survey was conducted on 4
high schools at Baghdad with total
The 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 MoreThe current study was designed to compare some of the vital markers in the sera of diabetic and neuropathy patients via estimating Adipsin, Fasting blood Glucose(FBG), Glycated(HbA1c) hemoglobin, Homeostasis Model Assessment Index (Homa IR ), Cholesterol, High density lipoprotein (HDL), Triglycerides (T.G), Low-density, and lipoprotein (LDL), Very Low Density Lipoprotein (VLDL), in sera of Iraqi patients with diabetes and neuropathy. A total of ninety subjects were divided into three groups: group I (30 diabetic with neuropathy males) and group II (30 diabetic males without neuropathy), and 30 healthy sujects were employed as control group. The results showed a significant decline in Adipsin levels (p>0.05) in neuropathy, T2DM g
... 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 MoreAbstract
Suffering the human because of pressure normal life of exposure to several types of heart disease as a result of due to different factors. Therefore, and in order to find out the case of a death whether or not, are to be modeled using binary logistic regression model
In this research used, one of the most important models of nonlinear regression models extensive use in the modeling of applications statistical, in terms of heart disease which is the binary logistic regression model. and then estimating the parameters of this model using the statistical estimation methods, another problem will be appears in estimating its parameters, as well as when the numbe
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