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.
The drill bit is the most essential tool in drilling operation and optimum bit selection is one of the main challenges in planning and designing new wells. Conventional bit selections are mostly based on the historical performance of similar bits from offset wells. In addition, it is done by different techniques based on offset well logs. However, these methods are time consuming and they are not dependent on actual drilling parameters. The main objective of this study is to optimize bit selection in order to achieve maximum rate of penetration (ROP). In this work, a model that predicts the ROP was developed using artificial neural networks (ANNs) based on 19 input parameters. For the
Anemia of chronic disease (ACD) and iron deficiency anemia (IDA) are the two most important types of anemia in rheumatoid arthritis (RA). Functional iron deficiency in ACD can be attributed to overexpression of the main iron regulatory hormone hepcidin leading to diversion of iron from the circulation into storage sites resulting in iron-restricted erythropoiesis. The aim is to investigate the role of circulating hepcidin and to uncover the frequency of IDA in RA. The study included 51 patients with RA. Complete blood counts, serum iron, total iron binding capacity, ferritin, and hepcidin- 25 were assessed. ACD was found in 37.3% of patients, IDA in 11.8%, and combined (ACD/IDA) in 17.6%. Serum hepcidin was higher in ACD than in con
... Show MoreBreast cancer (BC) is one of the most frequently observed malignancy in females worldwide. Today, tamoxifen (TAM) is considered as the highly effective therapy for treatment of breast tumors. Oxidative stress has implicated strongly in the pathophysiology of malignancies. This study aimed to investigate the changes in the levels of oxidants and antioxidants in patients with newly diagnosed and TAM-treated BC. Sixty newly diagnosed and 60 TAM-treated women with BC and 50 healthy volunteers were included in this study. Parameters including total oxidant capacity (TOC), total antioxidant capacity (TAC), and catalase (CAT) activity were determined before and after treatment with TAM. The serum levels of TOC and oxidative stress index (OSI) were
... Show MoreBackground: Thalassemia is characterized by the decrease or absence of the synthesis of one or more globin chains of hemoglobin. Thalassemia is distributed worldwide and is characterized by; regular blood transfusion which is creating alloimmunization to erythrocyte antigens is one of the major complications of regular blood transfusions in thalassemia, particularly in patients who are chronically transfused.Objectives: The aims of this study are to understand the immune system profile as the triggering factor for thalassemia.Methods: Thirty patients aging between one year and four months and twenty two years, twenty two of them were boys and eight were girls. Twenty nine patients, their parents are relative except one and studied in the
... Show MoreGastroesophageal reflux disease (GERD) is a prevalent clinical condition, that affects millions of individuals worldwide. Objective: To assess the level of soluble HLA-E (sHLA-E) as a biomarker in the diagnosis and immunopathogenesis of GERD patients. Methods: The case-control prospective study included 40 GERD patients who were consulted at the Gastroenterology Unit of AlKindy Teaching Hospital, as along with 40 healthy control subjects. The study period extended from January 2023 to May 2024. Blood was drawn from both groups and serum was separated to assesssHLA-E using a sandwich enzyme-linked immunosorbent assay (ELISA) kit. Results: There was a statistically significant difference in sHLA-E levels between GERD patients and healthy cont
... Show MoreBackground: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder globally. The prevalence is 25% worldwide, distributed widely in different populations and regions. The highest rates are reported for the Middle East (32%). Due to modern lifestyles and diet, there has been a persistent increase in the number of NAFLD patients. This increase occurred at the same time where there were also increases in the number of people considered being obese all over the world. By analyzing fatty liver risk factors, studies found that body mass index, one of the most classical epidemiological indexes assessing obesity, was associated with the risk of fatty liver.
Objectives: To assess age, sex, and body
... Show MoreBackground: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder globally. The prevalence is 25% worldwide, distributed widely in different populations and regions. The highest rates are reported for the Middle East (32%). Due to modern lifestyles and diet, there has been a persistent increase in the number of NAFLD patients. This increase occurred at the same time where there were also increases in the number of people considered being obese all over the world. By analyzing fatty liver risk factors, studies found that body mass index, one of the most classical epidemiological indexes assessing obesity, was associated with the risk of fatty liver. Objectives: To assess age, sex, and body mass index (BMI) as
... Show MoreIntroduction: Metabolism is a vital technique in the field of medical research. It offers an insight into the etiopathogenesis of diseases and the formulation of personalized treatment regimens. Biochemical and metabolic alterations require innovative therapeutic approaches in polycystic ovarian syndrome (PCOS). Trace elements, like copper and zinc, may help treat PCOS due to their relation to metabolism. Objective: The aim of this work was to explore the metabolic impact of copper and zinc supplementation in women with PCOS using state-of-the-art metabolomics technologies. Methods: This study included fifty PCOS patients and fifty healthy subjects. High-resolution mass spectrometry (HRMS) and nuclear magnetic resonance
... Show MoreAim: To learn more about Oral Lichen Planus Iraqi patients, including their background information, symptoms, and prognosis. Materials and Methods: From the Oral and Maxillofacial Pathology Department, College of Dentistry, Baghdad University, we retrospectively reviewed the medical records of 68 patients with a histologically confirmed clinical diagnosis of oral lichen planus and subsequently contacted the patients by phone to evaluate their prognosis. Results: Females were more likely than males to experience severe pain; the reticular form of Oral Lichen Planus was the most prevalent at 38.2%, but the erosive type was more prevalent among females. Only 53 of 68 patients responded to phone calls. More than 37% of those respondents reporte
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