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.
Alzheimer's disease (AD) increasingly affects the elderly and is a major killer of those 65 and over. Different deep-learning methods are used for automatic diagnosis, yet they have some limitations. Deep Learning is one of the modern methods that were used to detect and classify a medical image because of the ability of deep Learning to extract the features of images automatically. However, there are still limitations to using deep learning to accurately classify medical images because extracting the fine edges of medical images is sometimes considered difficult, and some distortion in the images. Therefore, this research aims to develop A Computer-Aided Brain Diagnosis (CABD) system that can tell if a brain scan exhibits indications of
... Show MoreWith increased climate change pressures likely to influence harmful algal blooms, exposure to microcystin, a known hepatotoxin and a byproduct of cyanobacterial blooms can be a risk factor for NAFLD associated comorbidities. Using both
Some of the issues that have become common in our society recently after the Americans entered our country and were rubbed by some security agencies: obtaining some information from children, and the serious consequences that may lead to the lives of innocent people, became common interrogation of some security agencies and rely on their words.
There are significant cases where their testimony needs to be heard, such as their presence in some places where incidents are not witnessed by others, such as schools or being witnesses to certain crimes.
I saw the study of this case in the light of Sharia and law
In this research, the focus was placed on estimating the parameters of the Hypoexponential distribution function using the maximum likelihood method and genetic algorithm. More than one standard, including MSE, has been adopted for comparison by Using the simulation method
Background: It had been found that passive smoking may have the same harmful effect as tobacco cigarettes smoking. Aims: This study was conducted to determine the effect of passive smoking on salivary glutathione peroxidase and selenium in relation to dental caries severity. Settings and Design: The sample consisted of 120 children aged 5 years old, classified into four groups according to the number of cigarettes smoked by their fathers daily: Passive smoking children of 5-10 cigarettes, those of 10–15 cigarettes daily, those of 15–20 cigarettes daily and non-passive smoking children of no smokers indoor (the control group). The sample was further classified according to dental caries severity into three groups: mild (DMFS values <4
... Show MoreAnaemia is a common extra-articular manifestation of rheumatoid arthritis (RA) where anaemia of chronic disease (ACD) and iron deficiency anaemia (IDA) are the two most frequent types. The distinction between these two types of anaemia has always been challenging requiring sophisticated techniques. Serum transferrin receptor (sTfR) a truncated soluble form of the transferrin receptor is one of the parameters that is influenced by the Iron content and supply to the erythrons and is not affected by inflammatory status and therefore the use of the sTfR/log ferritin (sTfR-F) index can be a reliable indicator of functional iron deficiency.
IH Abdul-Abbas, QJ Rashid, M RasimYounus, PalArch's Journal of Archaeology of Egypt/Egyptology, 2021 - Cited by 9
Background: Bowel cancer is the most prevalent digestive system cancer and is the 4th largest cause of cancer-related death worldwide. In Iraq, colon and rectal cancer (CRC) is the 6th most common malignancy in males and the 5th in females. This cancer is sluggish in growth, which gives a window of opportunity to screen for both precursor lesions and early cancer. The Cluster of Differentiation 47 (CD47) protein is a type of transmembrane glycoproteins found on nearly all human cells, including non-hematopoietic and hematopoietic cells. CD47 promotes CRC growth by triggering angiogenesis and apoptosis of tumor cell. Objectives: To evaluate the immunohistochemical expression of (CD47) in various colorectal samples from Iraqi patients
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