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.
Introduction: The association between acute stroke and
renal function is well known. The aim of this study is to
know which group of patients with acute stroke is more
likely to have undiagnosed Chronic Kidney Disease and
which risk factors are more likely to be associated with.
Methods:We studied 77 patients who were diagnosed to
have an acute stroke.Patients were selected between
April2011andJune 2011 using the " 4-variable
Modification of
Diet in Renal Disease Formula " which estimates
Glomerular Filtration Rate using four variables :serum
creatinine ,age ,race and gender.
Results :The study included 38 male and 39 females
patients ,aged (35-95) years. Glomerular Filtration Rate in
patients wi
Toxoplasmosis is an infection caused by Toxoplasma gondii that leads to abortion or hydrocephalus during pregnancy.One hundered and twenty two aborted women were selected for this study. Serum samples were collected form Al-Kadhmia and Kamal Al-Samari Hospitals,and laboratories around Baghdad, and tested for specific IgG and IgM anti-toxoplasma antibodies to confirm toxoplasmosis in those women by using ELISA test.The result recorded that 51(41.8%) women had antibodies against Toxoplasma gondii, 25(59.5%) women were positive for IgG, and 17(40.5%) women were positive forIgM, while 9(17.6%)women were positive for both.
This study, which was conducted in the city of Mosul, through collected 1200 samples from the stool of patients with diarrhea attending hospitals and private clinics for the period from the beginning of January 2019 to the end of December 2019, those whose ages ranged from less than a year-60 year, and for both sexes and by reality 700 samples stool for males and 500 samples stool for females. Samples were collected in clean, sterile, and sealed 40ml plastic bottles. Patient information is noted, name of the parasite, history, sex, age, address. The result showed that climate and temperature have a significant effect on increase the incidence of intestinal parasites through the direct effect on the increase in infection rate. This effect wa
... Show MoreThe integration of decision-making will lead to the robust of its decisions, and then determination optimum inventory level to the required materials to produce and reduce the total cost by the cooperation of purchasing department with inventory department and also with other company,s departments. Two models are suggested to determine Optimum Inventory Level (OIL), the first model (OIL-model 1) assumed that the inventory level for materials quantities equal to the required materials, while the second model (OIL-model 2) assumed that the inventory level for materials quantities more than the required materials for the next period. &nb
... Show MoreSurvival analysis is the analysis of data that are in the form of times from the origin of time until the occurrence of the end event, and in medical research, the origin of time is the date of registration of the individual or the patient in a study such as clinical trials to compare two types of medicine or more if the endpoint It is the death of the patient or the disappearance of the individual. The data resulting from this process is called survival times. But if the end is not death, the resulting data is called time data until the event. That is, survival analysis is one of the statistical steps and procedures for analyzing data when the adopted variable is time to event and time. It could be d
... Show MoreIn this paper, the botnet detection problem is defined as a feature selection problem and the genetic algorithm (GA) is used to search for the best significant combination of features from the entire search space of set of features. Furthermore, the Decision Tree (DT) classifier is used as an objective function to direct the ability of the proposed GA to locate the combination of features that can correctly classify the activities into normal traffics and botnet attacks. Two datasets namely the UNSW-NB15 and the Canadian Institute for Cybersecurity Intrusion Detection System 2017 (CICIDS2017), are used as evaluation datasets. The results reveal that the proposed DT-aware GA can effectively find the relevant features from
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