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.
In the framework of this study, the phenomenon of transfer is probed pragma-linguistically and socio-linguistically concerning marriage situations among Iraqi EFL learners. The study also strives to look at the refusal strategies most commonly employed by Iraqi female English as a foreign Language (EFL) learners compared to their counterparts, American native speakers of English. The study involved 70 female participants who answered a Discourse Completion Task (DCT), which contained ten marriage proposals to be refused. Each situation entailed refusal of a person from a higher, an equal, and lower status. The researchers adapted Beebe, Takahashi, and Uliss Weltz’s (1990) taxonomy of refusal for analyzing the data comprehensively. The
... Show MoreStudy showed structure of pecten oculi in the Kestrel Falco tinnunculus L.was
Pleated type and consisted of 17 folds which were thick. While in the Collared Dove
Streptopelia decaocto F. was Vaned type and consisted of 13 folds and it described
thin. The illustrated histological study of pecten oculi folds in the Kestrel and the
Collared Dove was composed of large number of capillaries, large blood vessels and
pigment cells which were few in Kestrel compare with the Collared Dove. The bridge
in the Kestrel and the Collared Dove pecten oculi was consisted of connective tissue,
many pigment cells, and contains on little capillaries and it linked the membrane to
the internal limiting membrane of the retina in the Kes
Silver nanoparticles synthesized by different species
This study was conducted to test the hypothesis that the duration of time spent by the student inside the examination rooms answering the all kinds of written ex-amination questions has some kind of a positive effect on the final score he will get from that exam. And if there arc gender differences in this respect. Students and methods: Data on the final examinations of the autumn quarter was gathered on 892 examina-tions conducted at the end of this quarter , this included male participants of 566 and females of 326. Examinations were on twenty different subjects , including all of the first five years of the undergraduate students of Iraqi College of Medicine for the academic year 2002 — 2003 . The scheduled time of the examinations was
... Show MoreIn the present study, the aim was made to identify the relationship between thyroid autoimmunity (TAI) and female infertility. The study was performed on 30 infertile women and 22 age-matched healthy fertile control age (33 ± 5 years). Overall, serum prolactin (PRL), thyroid stimulating hormone (TSH) assay is the key test for the diagnosis and management of hypo and hyperthyroidism. Anti-TPO Ab and anti-TG Ab were measured. The mean ± SE of serum PRL (31.080 ± 3.06) ng/ml was significantly (P<0.05) higher in infertile group compared with control (16.191±1.36) ng/ml. Serum TSH was significantly (P<0.05) higher in infertile group (5.689 ± 1.12) µIU/ml compared to control group (2.282 ± 0.18) µIU/ml. The prevalence of positive
... Show MoreIn this article, the types of renewable energies and the environmental effects of consuming these energies are studied. Energy is one of the things necessary for economic and social development and improving the quality of life, and the presence of continuous and sustainable economic energy is essential for any economic development and growth. Humankind has been aware of renewable energies such as biomass and geothermal energy for a long time and has used these energies as heat sources for shelter. With the beginning of the extraction of fossil fuels such as oil and coal and unlimited access to these products, the use of renewable energy sources, except in remote places and forest areas, has become limited and forgotten. Currently in Iraq,
... Show MoreThe micronucleated erythrocytes in fish was used to detect water pollution by genotoxic agents. Fish belonging to different species were collected from three regions from Baghdad during three months (December/2000,January and February/2001 ).The micronucleated erythrocytes was observed in all the specimens. It was concluded that the genotoxic activity' in one region was less than in die other two regions.?