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: Vitamin D deficiency/ insufficiency is common in different age groups in both genders especially among pregnant women and neonates where it is associated with several adverse outcomes including preeclampsia and preterm delivery. Objectives: To assess the extent of vitamin D deficiency/ insufficiency among mothers and their neonates and some factors related to it and identify some adverse outcomes of the deficiency/ insufficiency on neonates (preterm birth and low birth weight). Subject and Methods: A cross-sectional study was conducted on 88 Iraqi pregnant women and neonates admitted to “Al-Elwiya teaching hospital for maternity” in Baghdad- Al-Rusafah from 1st of June 2019 to 31st of August 2019. Dat
... Show MoreBackground: Vitamin D deficiency/ insufficiency is common in different age groups in both genders especially among pregnant women and neonates where it is associated with several adverse outcomes including preeclampsia and preterm delivery.
Objectives: To assess the extent of vitamin D deficiency/ insufficiency among mothers and their neonates and some factors related to it and identify some adverse outcomes of the deficiency/ insufficiency on neonates (preterm birth and low birth weight).
Subject and Methods: A cross-sectional study was conducted on 88 Iraqi pregnant women and neonates admitted to “Al-Elwiya teaching hospital for maternity” in Baghdad- Al
... Show MoreIn their cross-sectional study, Al-Rubaye et al studied the extent of vitamin D (VD) deficiency/ insufficiency, factors affecting its degree, and the adverse outcomes of the altered VD status among a group of mothers and their neonates from Baghdad, Iraq. They found that 96.6% of the mothers had VD deficiency/ insufficiency compared to 86.4% in their neonates. Maternal VD levels and neonatal weights were significantly correlated with neonatal VD levels. We believe that the study results need to be revised. This is based two points listed in this letter to editor
The elections of the Council of Representatives in Iraq are one of the manifestations of political participation, which makes it attracts the attention of researchers. Where Iraq witnessed in 2005 important political events in the Iraqi arena, a pluralist parliamentary elections or elections in Iraq by direct free election on January 30, the first almost half a century ago. On November 15 of the same year, Iraq adopted a permanent constitution for the country through a popular referendum.
This study research to Showing The impact of the integration process on the quality of Insurance service and analyze the impact financially to determine whether there is any impact on the quality of the insurance service, in addition to identifying the obstacles that impede the merger between the insurance companies, insurance and the appropriate proposals for its' application and benefit from the benefits achieved.
The importance of The study lies in the fact that it is an important and vital spotlight that is becoming increasingly important in the world to confront the various difficulties and crises that have occurred recently in light of the liberalization of international trade, globalization a
... Show MoreBackground: One of the most prevalent procedures in oral surgery is the removal of impacted mandibular third molars, typically accompanied by trismus, edema, and pain. Several methods and biomaterials were implemented to mitigate or avoid these surgical problems. Objectives: To evaluate the efficiency of chlorhexidine gel (WISDOM®) in minimizing postoperative sequelae associated with the impacted mandibular third molar that will be surgically extracted and its role in promoting early soft tissue closure of the surgical site. Methods: The study design was a double-masked and randomized, controlled clinical study that included healthy patients needing the removal of a mandibular third molar through surgery. The participants were rand
... Show MoreDiabetic kidney disease is an illness of the glomerulus that interferes with the glomerular filtration barrier (GFB), which is worked to enable kidney to selective purification of water and solutes in addition to limiting the movement of large macromolecules such as albumin. In the glomerular endothelium, mesangial cells, foot cells, and the brush border of the proximal tubules, ACE-2 is expressed and that the kidneys represent the highest-expressing region of this enzyme. Thus, the current study aimed to evaluate ACE-2 level in this case compared to healthy condition. The study Conducted with 120 male and female ranging in age (30-65) years old. Ninety patients with type 2 diabetes subdivided into three groups on the basis of A
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Abstract
Leadership has now become a process for applying methods and techniques that make the Organization at the top of its competitive pyramid a greater market share. Leadership has become a focus for all leaders and managers، and leaders and managers are increasingly seeking to develop their skills and leadership skills. The research started with a clear problem of specific questions to ensure that the general objective of the research is to describe the characteristics of the leader and to clarify the dimensions of empowering the workers and to highlight the role of the leader in empowering the workers. The study examines the relation between the role of the leader in
... Show MoreThis study aimed to determine the radioactivity and radiation hazard indicators of rice samples potentially for human consumption. Gamma spectroscopy was used to calculate the specific activity of natural and artificial radionuclides (238U, 232Th, 40K, and 137Cs) in local and imported rice samples collected from local markets in Baghdad Governorate, Iraq, in addition to various radiological hazard indices. The radionuclide concentrations in the samples varied from 2.123 ± 1.457 Bq/kg to 13.032 ± 3.610 Bq/kg for 238U, 2.906 ± 1.705 Bq/kg to 17.290 ± 4.158 Bq/kg for 232