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.
Background: L. sativum, are traditionally used for the treatment of various diseases and thought to have medicinal value. Isolates from many part of the world is now multidrug resistant. Therefore, there is an urgent need to look for and test an alternative herbal drug.
Objective: The present study aimed to evaluate the antibacterial activity of L. Sativum seed extract against multi drug resistant (MDR) and sensitive Pseudomonas aeruginosa clinical isolates.
Subjects and Methods: An ethanolic and aqueous stock extracts were prepared from L. sativum seed plant then serial dilutions were prepared and the obtained concentrations (50, 25, 12.5 and 6.2 mg/ml) were tested against 30 multidrug-resistan
... Show MoreRheumatoid arthritis (AR) is one of the chronic diseases resulting in many complications such as cardiovascular disease (CVD). Any change in the lipid profiles and myocardial markers indicates cardiovascular disease risk, so this study is designed to monitor the pattern of lipid profiles and myocardial markers in newly diagnosed RA patients. Blood samples were collected from 70 Iraqi patients newly diagnosed with rheumatoid arthritis (male and female) and 30 healthy served as control. These individuals were aged 35-65 years. The serum samples were obtained to determine myocardial markers; included troponin, creatinine kinase (CK), lactate dehydrogenase (LDH), and glutamic oxaloacetic transaminase GOT; and lipid profiles; such as choleste
... Show MoreManufacturing systems of the future foresee the use of intelligent vehicles, optimizing and navigating. The navigational problem is an important and challenging problem in the field of robotics. The robots often find themselves in a situation where they must find a trajectory to another position in their environment, subject to constraints posed by obstacles and the capabilities of the robot itself. On-line navigation is a set of algorithms that plans and executes a trajectory at the same time. The system adopted in this research searches for a robot collision-free trajectory in a dynamic environment in which obstacles can move while the robot was moving toward the target. So, the ro
... Show MoreThe High Power Amplifiers (HPAs), which are used in wireless communication, are distinctly characterized by nonlinear properties. The linearity of the HPA can be accomplished by retreating an HPA to put it in a linear region on account of power performance loss. Meanwhile the Orthogonal Frequency Division Multiplex signal is very rough. Therefore, it will be required a large undo to the linear action area that leads to a vital loss in power efficiency. Thereby, back-off is not a positive solution. A Simplicial Canonical Piecewise-Linear (SCPWL) model based digital predistorters are widely employed to compensating the nonlinear distortion that introduced by a HPA component in OFDM technology. In this paper, the genetic al
... Show MoreSummary of the research Family violence, its causes and effects on society (women and children). Search Goal: The current research aims to identify: 1. Causes of family and social violence (for children and women). 2. How to process. research importance : Domestic violence is a major and devastating problem that has a negative and direct impact on children in particular and women or mothers in general. The problem of domestic violence is linked to many factors and individual, social, economic, psychological and environmental variables, which makes one theory that claims to be inaccurate. It is difficult to understand the nature of family violence without linking it to some of the concepts related to it. The negative effects that may lead
... Show MoreBackground: Pemphigus vulgaris (PV) is an autoimmune vesiculobullous mucocutaneous disease with life-threatening consequences. Rituximab (RTX) has recently emerged as an effective treatment for PV. Objectives: This study aims to determine changes in neutrophil and platelet counts for PV patients treated with RTX or corticosteroids combined with Imuran (azathioprine). Materials and Methods: The present cross-sectional study was conducted in the Department of Dermatology at Baghdad Teaching Hospital, Baghdad, Iraq. Thirty PV patients received two types of treatment: 15 patients were administered RTX and 15 patients took corticosteroids with Imuran (azathioprine). Neutrophil and platelet counts were detected at the hospital laboratory. Results
... Show MoreOut of 120 isolates from different clinical cases, only 75 were found and confirmed that they belong to the Pseudomonas aeruginosa bacteria. The result revealed that the LasB virulent gene was present in 63 isolates with 63% percentage. The gel electrophoresis showed that the molecular weight of LasB gene was 300 bp. DNA sequences of LasB gene was done, and the results showed the presence of some gene mutations like substitution, addition and deletion with 97% identity with the Refseq gene. From the other side, the results of identities of translated nucleotides sequence with the original sequence of amino acids revealed that there are no effects of gene mutations on translation of the product protein.
One of the most important problems confronts hospitals is the strains emergence of Enterococcus spp. with multiple resistance to antibiotics, which propel researchers to modify or produce new antibiotics or combination between two antibiotics so that to be more effective against Enterococcus . This study was aimed to susceptibility some of local Enterococcus spp. Isolates with of 21 antibiotic using disc diffusion method. The results showed absolute resistant 100% toward (Cephalexin , Gentamycin , Amikacin ,Erythromycin and Nalidixic acid), while showed a high sensitivity toward (Vancomycin and Impenem ) at percentage of 92.3% for each . Also highl
... Show MoreThe study using Nonparametric methods for roubust to estimate a location and scatter it is depending minimum covariance determinant of multivariate regression model , due to the presence of outliear values and increase the sample size and presence of more than after the model regression multivariate therefore be difficult to find a median location .
It has been the use of genetic algorithm Fast – MCD – Nested Extension and compared with neural Network Back Propagation of multilayer in terms of accuracy of the results and speed in finding median location ,while the best sample to be determined by relying on less distance (Mahalanobis distance)has the stu
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