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: One of the most predominant periodontal diseases is the plaque induced gingivitis. For the past 20 years, super-oxidized solutions have be..
Even though in recent decades a bulk of studies have been accomplished on the use of communicative language teaching (CLT) in English as a foreign language (EFL) environments, fairly a limited numbers of studies precisely dealt with investigating the attitudes of language teachers, students and supervisors concerning the principals of CLT in the context of Iraq. Henceforth, this study was designed to delve into the attitudes of teachers, learners and supervisors about the implementation. To this end, the study was accomplished using a mixed method design. The present study was carried out in two phases: designing and using a questionnaire plus interviewing the teachers, students and supervisors (51 language learners, 41 teachers and
... Show MoreThe presence of research Repositories in the intellectual production of universities and their availability through their websites or through their scientific institutions is one of the criteria for evaluating these universities in the international classifications of the best universities, in addition to preserving the intellectual output of these universities for a long time and safely and preserving the property rights of researchers. And made them available through their websites. The purpose of this research is to identify the concept of digital content and research repositories and its origin, and to indicate the importance of its existence through the websites of universities and their types, and to identify the research repositories
... Show MoreThe aims of this study the infection with parasites Entamoeba histolytica and Giardia lamblia and prevalence rates and their relationship with gende , age group , the number of family members and source of drinking water among the patients at attending the Bint Al Huda and Al- Hussin Teaching hospital in Nassriyia city in Thi- Qar province , it was noticed that the percentage of parasitic infection at females was 38.55% and at males was 61.45% and the percentage of parasitic infection with Entamoeba histolytica 97% was higher than the percentage of parasitic infection with Giardia lamblia 3%,and the reduction of percentage of infection is associated with increasing of the number of family member ,the percentage of infection was 49% at the
... Show MorePurpose: This study aimed to compare the stability and marginal bone loss of implants inserted with flapped and flapless approaches 8 weeks after surgery and 3 months after loading. Material and Methods: Thirty SLActive implants were inserted in 11 patients and early loaded with final restoration 8 weeks after healing period. The stability values determined by Osstell and the marginal bone loss measured by CBCT at the initial time (1st) and 8 weeks of the healing period (2nd) and 3 months after loading (3rd). Results: The overall survival rate was 100%. A significant increase in the 3rd implant stability value in the age of ˂ 40. A significant decrease in the 2nd implant stability value in both gender and traumatic zone with a flapless app
... Show MoreAbnormalities in the Lipid and lipoprotein levels are common in the general population and are considered as very important risk- factors for cardiovascular disease .In this context the effect of cholesterol, which is one of the most clinically relevant lipids is very important. Aim of the present study was to determine the levels of GLP-1 and GPCR in non- diabetic dyslipidaemic patients and compare the results with the control group, which may be used as a novel biomarker to predict heart disease in these patients. The study was also aimed to find the relationship between GLP-1 and GPCR with lipid profile and glucagon in the patient group. The study involved 90 non-diabetic dyslipidaemia patients, with 90 healthy controls. The subjects wer
... Show MoreThrough the early childhood and after the ablactating the child learns acquired food habbits that might studying with him throughout his life. Here the parents role arises: teaching the child the sound food habits and hygienic styles and whatever beneficial to the health and with the sufficient quantities for the body. In this way the experiences the child learns at home will be of great help in his future life in choosing the suitable food after becoming more dependent in making his decisions and choices away from his parents. The results in this study showed that the averages of the children’s consumption of the high energy foods in comparison with the other highest consumption average , after that comes the con sumption of soft drills
... Show MoreThe rapid change in economic is a serious challenge facing all countries around the world, even developed ones. This challenge is increasing as the world enters the age of knowledge in which different knowledge and technologies have emerged and the distance between the emergence of scientific knowledge and its actual application on the ground has been reduced as well as the growing role of science and technology in community development. One of the most important technology amongst these technologies is nanotechnology, where this technology plays a major role in the development of products and modern devices and reduces cost with quality improvement. This technology is cross-cultural, requires a comprehensive knowledge structure and depe
... Show MoreThis study aims to isolate the pathogenic yeasts from genital tract and investigate their relationship with the age .The results clarified that the most pathogenic yeast isolated from genital tract was Candida albicans , also the results of C.albicanas isolates susceptibility test, to different antifungal revealed that they were sensitive to Miconazole, Ketoconazole and Clotrimazol and were resistant to Nystatin and Grisofulvin. The study of relationship of vaginal infection with the age showed that the incidence of infection with Candida was high among females age group (19-39 years).
Diabetes mellitus is a set of metabolic diseases, the most prevalent of which is chronic hyperglycemia. The culprits include insulin synthesis, insulin action, or both. Osteoporosis is a progressive systemic skeletal disorder defined by decreased bone mass and micro architectural degeneration of bone tissue, resulting in increased bone fragility and fracture risk, according to the World Health Organization (WHO). The degree of Nervosa damage determines how much a diabetic patient's body has been compromised. The current study's goal is an estimation: Age, BMI, FBS, HbA1C, D3, ALP, Ca, P, and Osteocalcin in Iraqi T2DM Women's patients with and without Osteoporosis. Three vitamins are required for Osteocalcin biosynthesis: vitamin K for Gla f
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