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 aim of this research to study.
The dimensions of organizational learning have been defined(learning dynamics, individuals empowerment, knowledge management and technology application) as well as the dimensions of learning organization have been defined (culture values, knowledge transfer, communication and employee characteristics), Asset completion questionnaire was used to collect data of this research from a purposely sample represent forty employees who works in Iraqi Planning Ministry at different positions. The research divided to four parts :
The first to the research methodology, the second to the theoretical review o
... Show MoreDuring pregnancy, high blood pressure disorder is the most common medical complication in pregnancy. It is the foremost cause of maternal mortality and perinatal diseases. Vascular endothelial growth factor (VEGF) affects the growth of vascular endothelial cells, existence, and multiplying, which are known to be expressed in the human placenta. This study aimed to identify the expression VEGF in the placenta of hypertension and normotensive women. In this study, a cross-sectional study from november 2019 to February 2020. A total of 100 placentae involved 50 hypertensive cases and 50 normotensive groups were assessed. VEGF-A expression in two placentas groups was evaluated by immunohistochemistry techniques. Strong and moderate VEGF
... Show MoreThe novel has recently received great attention from readers and before them writers, due to the role it is playing, and this indicates an important rule, which is whenever there is art or creativity, there must be a criticism of its own, and this criticism is certainly no less important than its owner, so we find There are critics who have their distinguished literary position in following up the narrative development, and trying to describe the transformation of its elements, including Professor Fadel Thamer, and whoever wants to approach an element of the novel as an explorer, he must stand on the visions of this critic about it, and this is what made us take the element (personality) Tracking the most important opinions of the critic
... Show MoreNovel has recently received the attention of readers and writers greatly, because of the role they play, and this indicates an important rule, which is whenever there is an art or creativity, there must be a respective criticism, and this criticism is certainly not less important than the author. So there are critics who have a prestigious literary position in the follow-up story development, and trying to describe the transformation of its elements. One of these critics is professor Fadhel Thamer, and who wants to approach one of the elements of the novel exploring, must stop on the visions of this critic about it , and that’s why we take the (character) element following the most important opinions of this critic about
... Show MoreThe alterations in glyoxylate reductase and hydroxy-pyruvate reductase concentrations in the sera and the genetic alterations associated with calcium oxalate kidney stones in Iraqi patients were not studied previously so this study aimed to focus on these points. This study included 80 subjects; they were 50 patients with calcium oxalate stones compared to 30 apparently healthy controls. Biochemical investigations for kidney functions (creatinine, urea, and uric acid), were performed on the sera of both groups. Also, complete blood count, random blood sugar, and blood group tests. Furthermore, urine had been collected for General Urine Examination to visualize oxalate crystals in the urine of the patient. Also, the GRHPR
... Show MoreHepatitis B virus (HBV) infection is a serious disease of the liver and signifies a major worldwide health concern. HBV Genotyping is vital for further epidemiological study, predicting the disease outcome and response to treatment. The current study aimed to determine hepatitis B virus genotypes in patients with chronic hepatitis B, and to validate possible associations with the baseline characteristics of the disease. A total of 90 patients with chronic hepatitis B infection were enrolled in this study. Liver function tests, hepatitis B virus markers and DNA viral load were done using routine standardized procedures. HBV genotyping was performed using real time PCR. Genotype D was the most predominant in 64 (71.1%) of samples, while
... Show MoreStudy aimed to determination of chitotriosidase-1 levels in Iraqi diabetic and diabetic patients with thyroid disorder. Also, study aimed to found relation correlation for chitotriosidase-1 with FSG, T3, T4 and TSH. Ninety subjects were including in this study. First group consisted of (30) healthy individuals who have no history of any thyroid disorders or diabetes mellitus as control group. Second group (G2) (n=30) patients with diabetic and hyperthyroidism as association disease, and third group (G3) (n=30) include patients with diabetic and hypothyroidism as association disease. Serum used in (FSG, T3, T4, TSH, and Chitotriosidase-1) determination. Results showed a significant elevation in patients’ groups (G2, G3) comparing t
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