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.
Acute myeloid leukemia is a malignant disease results from mutation in a multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations in Iraqi patients with AML and correlateresults with other clinical and laboratory findings. Fifty-eight AML patients, admitted to Baghdad TeachingHospital from October 2019 till March 2020 in addition to 25 normal controls, were included in the study.A detailed history, laboratory investigations including FLT3-ITD and NPM1 mutations were collected fromand analyzed. FLT3-ITD was detected in 17.24% of patients, NPM1 mutation in 10.34%. Most of thepatients are presented with pallor. FLT3-ITD mutation had a higher blast cell count (74%) while NPM1mutation had higher WBCs
... Show MoreThe body of the actor and its expressive significance is an essential topic in studying acting . it is not only confined to the study of soul and body from philosophical aesthetic perspective , but also to study the conception and mechanism of such a dichotomy followed by theatre directors and theorists , who are highly concerned with the creativity of actors . The researchers believe that such a study would be of benefit for actors as well as others working in theatre .
The study falls into two sections . the first deals with the phi
... Show MoreThe current study aimed to identify the morphological description and branches of the bronchial tree and lung for the weasel
The knowledge related with lexical items can be realized as including relations of meaning a cross words. Words that share a similarity of meaning are called to be synonymous, and words that share a contrary of meaning are called to be antonymous. Both of them are universal linguistic phenomenon that exist in terms of linguistic system of every language. The present study aims at finding out areas of difficulty that Iraqi EFL learners encounter in the use of synonymy and antonymy, both on the recognition and production levels. Also tries to detect the main reasons behind such difficulties. A diagnostic test of two parts, namely, recognition and production, is designed. The test is built to include two linguistic phenomenon which are: synony
... Show MoreMetadiscourse markers are means for organizing a writer’s information and create a connection with her/his readers. When students write, they usually focus on one type of these markers that is the interactive markers and belittling the use of the other type which is the interactional markers. That is to say, they emphasize on presenting and organizing their information only. Therefore, this study is conducted to bridge this gap. The researchers have selected 18 thesis abstracts. Nine of them are written by Iraqi students of English and the rest by American students. The aims of the study are to examine the types and sub-types of metadiscourse markers used by American and Iraqi students; investigate comparatively the impact of the metad
... Show MoreFibromyalgia (FM) is a common, debilitating, and chronic pain syndrome. The women are more likely to have more tender points on examination than are their male counterparts. Iraqi study showed that FM occur in 1.5% among adolescents of Iraqi population. In compare to normal healthy women, present study was revealed that Iraqi women with FM have significant elevation of calcium (p = 0.003) with significant reduction of magnesium (p = 0.001), whereas the inorganic phosphorous was not differs (p = 0.31). In conclusion, magnesium and calcium would play a crucial role in etiopathogenesis of fibromyalgia.
Key words: calcium, magnesium, phosphorous, Fibromyalgia.
This study was carried out in Artificial Insemination Center of Iraq to revealed FMD disease effect on some seminal attributer parameters of 14 imported Holstein bulls divided to three groups according to different reproductive efficiency (four High, five medium and five weak). Results showed that FMD disease had significant (P < 0.05) adverse effect on most seminal attributer parameters, mass, individual motility and sperm concentration / ml during post disease in first of two, four, all months of high, medium and weak semen quality bulls respectively .but semen volume didn’t influenced significantly with this disease. So semen collection should be suspended until resume normal fertility of sperm, after two, four month of high and
... Show MoreThe basis of the personality of each individual lies in the early years of his or her life. If the personality of the child has been well organized and if the motives have been fully expressed and effectively directed, the child will have a strong will, happy self-confidence and a strong personality. If there is a failure In the early years, the individual will be unable to meet his responsibilities in life and may be the victim of many psychological disorders. The family is a learning process through which children acquire the customs, traditions, attitudes and values prevailing in their social environment. (Pre-and-after) play and its relationship to parenting methods of (democratic-bullying-overprotection- and neglect), which wi
... Show MoreChildren who have a health problem need special requirements for their clothes. The purpose of the study is to design functional and aesthetic clothes to meet their needs. The research used the applied descriptive approach. The research sample comprised 120 women whose children suffered from hip dislocation. Designs for injured children presented and submitted to the arbitrators for evaluation regarding the functional and aesthetic aspects. The finding was achieving the design solutions. The most important recommendations are to increase attention to designing clothes to suit all the needs of society.