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: Dorsal plication on each side of the penis at the 2 and 10-o’clock positions had been a mainstay for correction of ventral penile curvature. However, because only the 12-o’clock position proved to be a nerve-free zone, dorsal plication at the 12-o’clock position can be advocated.
Objectives: To evaluate tunica albuginea plication with and without neurovascular bundle mobilization in patients with ventral penile curvature. Type of the study: A prospective study.
Methods: A 34 patients with a mean age of (4.8 ± 0.54) years, Who still
The research seeks to identify the impact of fraud detection skills in the settlement of compensatory claims for the fire and accident insurance portfolio and the reflection of these skills in preventing and reducing the payment of undue compensation to some who seek profit and enrichment at the expense of the insurance contract. And compensatory claims in the portfolio of fire and accident insurance in the two research companies, which show the effect and positive return of the detection skills and settlement of the compensation on the amount of actual compensation against the claims inflated by some of the insured, The research sample consisted of (70) respondents from a community size (85) individuals between the director and assistan
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The research aims to identify the mediator role of workplace spirituality in the relationship between psychological capital and entrepreneurial behavior: field research to a sample opinions from employees at the center of the Iraqi ministry of Oil . The importance of the current research emerged from paucity of studies that have attempted to identify and know the nature of the relationship between the variables as well as trying to find the current address and realistic problem directly affects the performance of employees in the Iraqi oil sector.
In order to achieve the goal of research the use of the analytical method (quantitative)
... Show MoreBackground: Previous studies about the correlation of genetic polymorphisms in the multigene family of cyto- chrome P450 (CYPs), the effect of tobacco smoking, and the risk of developing cancer have been well in- vestigated in different populations, but not in Iraq. Furthermore, the studies of malignance occurrence re- lationship with cigarette tobacco smoking revealed the presence of strong association, however, little is known about the risk of Waterpipe (WP) tobacco smoking. Thus, determination two important genetic polymorphisms in CYP1A1, a main member of CYPs, among Iraqi men was our first aim. This is the first study that highlights the correlation of CYP1A1 polymorphisms with the risk of lung cancer in Iraq. The second aim was to ev
... Show MoreHealth insurance and its benefits are of great importance and impact on the employees who represent the human capital of each organization because they are related to the health reality. The study took into account the most important and the last of his writing of the concepts and literary reviews and enriched the theoretical part of the practical side has addressed the financial data and analysis for the period from 2013 to 2017 to know the impact and the relationship between the variables that They were reviewed on the theoretical side. The study came out with a number of results, on the basis of which practical conclusions were drawn and reflected what was observed on the basis of which the recommendations were formulated
The purpose of the research is to study the impact of knowledge management (personalization and coding strategy) in achieving strategic excellence in the environment of Iraqi private banks, and the descriptive and analytical research approach has been adopted, so the researcher adopted positive philosophy according to the deductive approach for the purpose of deriving the first research hypothesis from the theoretical side and the research reached a group of The most important results are that the personalization strategy has made great progress in its ability to influence strategic superiority as a responsive variable, as the civil bank departments were successful in employing the changes that occurred in the personalization str
... Show MoreAbstract* Backgrounds The retention of the maxillary complete denture may be influenced by adequate recording in the patient’s mouth, marking, and carving of the post-dam on the maxillary cast. Failure to do so may lead to loss of retention. Successful denture construction with patient’s comfort could be achieved by effective methods of recording, marking, and carving of the post-dam. The aim of the study was to assess Iraqi dentists in their knowledge and application of the post-dam in maxillary complete dentures. Methods Questionnaires were distributed randomly through online Google Forms and 118 Iraqi dentists with different academic degree participated in the study. A multinomial logistic regression model was also used to ass
... Show MoreObjectives: The study aim was to explore the knowledge, perceptions, and attitudes of Iraqi physicians regarding generic and locally manufactured medicines. Methods: A total of 124 physicians were involved in this cross -sectional study. The convenience sample was collected from five public hospitals in Baghdad. A self-administered questionnaire was distributed and collected in-person. Fisher's Exact Test was used to measure the association between physician years of experience, gender and categorical (perception and knowledge) variables. Results: Most respondent answers regarding the knowledge of generic medicines were incorrect. Only up to one-third of the participants knew that generic medicines are therapeutically eq
... Show MoreSM ADAI, BN RASHID, Journal of Current Researches on Social Sciences, 2023
Multiple drilling problems are being faced continuously while drilling wells in the southern Iraqi oil fields. Many of which are handled poorly and inefficiently which yields longer non-productive time due to the lack of knowledge about the source of these problems. This study aims to investigate the Basra oil fields formations from Faris to Mishrif, diagnose the potential problems, and present the optimum treatment for each problem.
Gathering of field data and previous studies on the subject, in addition to the field experience of drilling supervisors were all the information bases of this study. Southern Iraqi oil fields were studied and analyzed care