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.
Pharmaceutical care is a patient-centered, outcomes oriented practice that requires the pharmacist to work in concert with the patient and the patient’s other healthcare providers to promote health, to prevent disease, and to assess, monitor, initiate, and modify medication use to assure that drug therapy regimens are safe and effective. In addition, the presence of clinical pharmacists has led to a higher quality of patient education and provision of complete detailed information for patients. In developed countries Pharm D has become the professional degree for practice of Pharmacy. The graduates will be enrolled in a pharmacy residency program; admission to the residency programs is available to Pharm D graduates of an accredit
... Show MoreLeukemia or cancer of the blood is the most common childhood cancer, Acute lymphoblastic leukemia (ALL), is the most common form of leukemia that occurs in children. It is characterized by the presence of too many immature white blood cells in the child’s blood and bone marrow, Acute lymphoblastic leukemia can occur in adults too, treatment is different for children. Children with ALL develop symptoms related to infiltration of blasts in the bone marrow, lymphoid system, and extramedullary sites, such as the central nervous system (CNS). Common constitutional indications consist of fatigue (50%), pallor (25%), fever (60%), and weight loss (26%). Infiltration of blast cells in the marrow cavity and periosteum often lead to bone
... Show MoreCoronavirus disease 2019 (COVID-19) is a systemic disease with a substantial impact on the hematopoietic system and hemostasis. Neutrophilia is an early indicator of SARS-CoV-2 infection, while lymphopenia acts as a biomarker of the severity of infection, and the neutrophil-to-lymphocyte ratio (NLR) is the main indicator of cytokine storms. Thus, this study aimed to provide local data about hematological parameters among COVID-19 patients and estimate their correlation with viral load and other factors in severe cases. A total of 99 nasopharyngeal swabs and whole blood specimens were collected from individuals suspected with COVID-19 between October and December 2020. Samples were tested by real time reverse transcript
... Show MoreNeuron-derived neurotrophic factor [NENF], a human plasma neurotrophic factor, also increases neurotrophic activity in conjunction with Parkinson's disease-related proteins in Neudesin. Although Neudesin (neuron-derived neurotrophic secreted protein) is a member of the membrane-associated progesterone receptor (MAPR) protein subclass, it is not evolutionary related to the other members of the same family. The expression of Neudesin is found in both brain and spinal cord from embryonic stages to adulthood, as w Neudesin levels in Parkinson's patients with osteoporosis disease and Parkinson's patients without osteoporosis disease, as well as the relationship between Neudesin levels, Anthropometric and Clinical Features (Age, Gender, BMI) and
... Show MoreCoronary artery disease (CAD) is a condition of an inadequate supply of oxygenated blood to a portion of the myocardium. It typically occurs when there is an imbalance between supply and demand of myocardial oxygen. The most common cause of myocardial ischemia is atherosclerotic disease of an epicardial coronary artery or arteries which is sufficient to cause a regional reduction in myocardial blood flow and inadequate perfusion of the myocardium supplied by the involved coronary artery. Fifty CAD subjects (23 females and 27 males) were enrolled in this study in addition to thirty healthy control subjects (13 female and 17 male). This study aimed to measure the serum levels of interleukin IL- 33, C- reactive prot
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