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.
الاحداث السياسية في العراق بعد 2003 وأثر الانتماء والوعي في التشكيل العراقي المعاصر
Background: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o
... Show MoreBackground: Most prevalent chronic liver disease in developed and developing nations is non-alcoholic fatty liver disease. From fatty liver, which often has benign, non-progressive clinical history, to non-alcoholic steatohepatitis, a more serious variant of fatty liver that can lead to cirrhosis and end-stage liver disease, non-alcoholic fatty liver disease encompasses broad spectrum of diseases. The gold standard for determining extent of hepatic fibrosis is still liver biopsy; however, number of noninvasive tests have been established to make diagnosis and assess effectiveness of treatment.
Objective: Aim of study was to assess effectiveness of the combination of fibroscan and
... Show MoreChronic Kidney Disease (CKD) is a public health problem and many studies support the link between kidney dysfunction and cardiovascular events. Aldosterone has been shown for decades that a plasma aldosterone concentration is elevated in CKD. Whilst, Osteoprotegerin (OPG), after its capacity to protect bone, also osteoprotegerin is elevated in patients with chronic kidney disease (CKD), where it could predict the deterioration of kidney function, cardiovascular, vascular events and all-cause mortality. On the other hand, fibroblast growth factors (FGFs), in patients with CKD, its levels seem to increase progressively as kidney function worsens. The aim of the present study is to assess the correlations between serum osteoprotegerin
... Show MoreIsolation of fungi was performed from February to July, 2019. One hundred clinical specimens were collected from King Abdullah Hospital (KAH) Bisha, Saudi Arabia. Samples were collected from twenty patients of different ages (30 - 70 years old) ten males and ten females. The samples were collected from patients with the two types of diabetics. Specimens included blood, hair, nail, oral swabs and skin. Specimens were inoculated on Sabourauds Dextrose agar containing chloramphenicol. Thirteen fungal species were isolated and identified. The isolated species were: Aspergillus flavus, A. niger, A. terrus, A. nidulans, A. fumigatus, Candida albicans, C. krusei, C. parapsilosis, C. Tropicalis, Curvularia lunata, Fusarium solani, Penicill
... Show MoreNews feeds are at the forefront of news forms that are close to the public's attention for their rapid news content in two directions:
- its speed in summarizing events in one or two sentences easy to be understood and realized.
- highlight the most important contents of screenings or news broadcast.
The researchers felt that the importance of these brief news compared to news broadcast, breaking news and news subtitle are still ambiguous, as well as their contents.
The researchers selected the city of Baghdad as a community to research and prepare a questionnaire form containing (11) questions.
The questionnaires were distributed to a non-relative stratified
... Show MoreChildren who have a health problem need special requirements for their clothes. The purpose of the study is to design functional and aesthetic clothes to meet their needs. The research used the applied descriptive approach. The research sample comprised 120 women whose children suffered from hip dislocation. Designs for injured children presented and submitted to the arbitrators for evaluation regarding the functional and aesthetic aspects. The finding was achieving the design solutions. The most important recommendations are to increase attention to designing clothes to suit all the needs of society.