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.
Some mechanical and thermal properties of mullite samples prepared by mixing different phases of alumina and silica powders have been studied according to ASTM methods the cold crushing strength of the sintcred bodies.With different porosity, at room temperature was in the range(18-54)Mpa
Reading roles as the third skill in the range of English as a Foreign Language (EFL) learning. Although the capability of reading in both academic and non-academic texts is assessed on standardized tests, few of oral interpretation of written language excludes images from estimating literary knowledge. This paper highlights strategies of reading comprehension and visual literacy. It aims to investigate either textual or visual reading in EFL can make an impact on students' comprehension. The effective use of visuals changes instructing reading comprehension recently.The imagery-text model can affect developing reading comprehension and enhancing intellectual thinking. The study hypothesizes that there is no relationship between reading and
... Show MoreThis research delves into the role of satirical television programs in shaping the image of Iraqi politicians. The research problem is summarized in the main question: How does satire featured in television programs influence the portrayal of Iraqi politicians? This research adopts a descriptive approach and employs a survey methodology. The primary data collection tool is a questionnaire, complemented by observation and measurement techniques. The study draws upon the framework of cultural cultivation theory as a guiding theoretical foundation. A total of 430 questionnaires were disseminated among respondents who regularly watch satirical programs, selected through a multi-stage random sampling procedure.
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Background: Hypothyroidism is the most prevalent thyroid disorders worldwide. Hypothyroidism manifestations are wide spectrum, affecting various systems in human body including the nervous system. Hypothyroidism can cause neuropsychiatric symptoms such as anxiety, depression and diminishing in attention, memory and executive function. Aim: to investigate the level of anxiety and depression in patients with hypothyroidism receiving levothyroxine treatment. Method: a cross-sectional study was conducted at Baghdad Center for Nuclear Medicine and Radiation Therapy from March to June 2022. The study population included patients of both genders, aged 18-65 years, diagnosed with hypothyroidism, were receiving levothyroxine treatment and
... Show MoreThe research dealt with a topic that has been practiced and transmitted news in satellite channels in recent years a lot. That is to say the role of satellite channels in the culture of a protest. In general, this study aims to reach to know the extent of the impact of television, especially the impact of the programs that bear the contents of protest and remonstration on the public; and what can be resulted out of these programs as cognitive, emotional and behavioral effects as a result of the individual's exposure to these programs and their impact from the culture of pretense. In addition to that, the research was interested in explaining the role of Iraqi satellite channels in developing and cultivating such culture; and following up
... Show MoreBackground: The Andrews’ six keys of normal occlusion contribute individually and collectively to the total scheme of occlusion and, therefore, are viewed as essential to successful orthodontic treatment. The present research aims to evaluate the presence of the parameters of the Andrews’ Six Keys of normal occlusion in a sample of 100 Iraqi adults with complete permanent dentition and clinically acceptable normal occlusion (Angle’s Class I) in Baghdad city. Their age range 18-25 years (60 males and 40 females). Materials and methods: Each patient was subjected to clinical examination and then study cast models were made, with their occlusal records. The measuring tools that have been used involved: Three-dimensional goniometer to me
... Show MoreKE Sharquie, AA Noaimi, AA Zeena, IOSR J Dent Med Sci, 2015 - Cited by 5