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.
Throughout what mentioned above, It is obvious that the aware narrator in these biography models was the strongest tool in presenting the content, especially the biographies under study were written by feminine hands, striving to prove her identity by all means and ways. In addition, we can suppose that the hiding of she writer behind the character is no more than a mask, by which she want to mask herself so that she can express herself frankly and freely, especially when she talks about subjects that are inconsistent with the society, customs and traditions. It is important to refer that the existence of the participant narrator in the biographies under study does not prevent the presence of another narrator such as external or aware na
... Show MoreThe present study was identified the type of bacterial contamination of Iraqi banknotes currency (Iraqi dinars) in circulation. 68 Iraqi banknotes currency of different denominations samples were randomly gathered from different locations and different occupational groups in Baghdad city. The results showed 61 (89.70%) of the samples were determined to be contaminated with bacteria, whereas 7 (10.29%) were confirmed to be sterile. A total of 11 different species of bacteria resulting in 72 isolates were found from those 61 contaminated Iraqi banknotes currency. Based on culture, morphological and biochemical tests, 11 isolates were identified as Bacillus sp., Staphylococcus aureus, Staphylococcus epidermidis, Corynebacterium diphtheria, Leu
... Show MoreChronic myeloid leukemia (CML) is a myeloproliferative disorders characterized by formation of Philadelphia chromosome. After disease development, several events may associate with the reduction of anti-tumor immunity. The present study was designed to investigate the immunological profile of innate and adaptive immune response in Iraqi patients with CML. Patients were grouped into untreated (UT), treated (T) with chemotherapy, while another apparently healthy individuals were recruited to represent the control (C) group. Methods: ELISA technique was used to estimate serum levels of GM-CSF, IL-1a, IL-8, IL2, INF-?, IL-4, and IL-10 while SRID was used to estimate serum levels of C4, IgM, IgA, and IgG. Results: Regarding to innate immune resp
... Show MoreThe study aims to know the preference of the Iraqi consumer of imported dairy products to local, which has increased demand in recent years due to various reasons including commodity dumping policy that Iraq has been suffering since 2003, which has led to decline in the role of local dairy product in our markets and its inability to compete with imported product for different reasons. The research utilized questionnaire as a survey tool of the opinions of a sample of Iraqi 92 consumers in Baghdad/Alrisafa. The questionnaire consisted of twenty questions included the four components of marketing mixture (product quality, price, place, and promotion). Weighted mean and percentage weight used for data analysis. The study showed that the mos
... Show MoreBehavioral and emotional disorders represent one of the commonest problems facing children in particular and disturbing their parents and educators in general. This is because Iraqi people have long been living in difficult conditions and faced various terrorists’ operations, such as killing, destruction, robbery, and looting. Such operations are said to be one of the reasons that leads to the development of such disorders, and may negatively affect the psyche of the child and be reflected on his behavior as represented by playing with the IPad for hours, and suffering from nightmares. Accordingly, the current research aims to examine specifically the commonest negative behavioral disorders among kindergarten children during the post-t
... Show MoreAbstract The present study on the prevalence of intestinal parasitic infection from July 2003 to July 2004 ,was conducted among children aged(less than 5 -14 )years attending AL-Daura Health Centre in Baghdad City .(350) specimen were choosen randomly and examined, 160(45.7%) of these were infected , 140 (87.5%) harboured one parasite while 20 (12.5%) harboured more than one parasite.190 (54.3%) were non infected with any of intestinal parasite . It was observed that the most common intestinal protozoa among children is Giardia lamblia, followed by Entamoeba histolytica and Blastocystis hominis with pre
Objective(s): The study aims Finding relationship between UTI and demographic variable include: child's age, child's gender, if males are circumcised or not, child's order in his family, father's level of education, mother's level of education, place of residence and family socioeconomic status. Methodology: A descriptive study was conducted on students of primary schools for both sexes, for the period from 19th. February 2014 through to 4th March 2014. A selected sample from two steps the first stage is to choose a school by a stratified- cluster sample, getting schools that have been selected (12) sch
A total of 96 stool samples were collected from children with bloody diarrhea from two hospitals in Baghdad. All samples were surveyed and examined for the presence of the Escherichia coli O157:H7 and differentiate it from other Non -Sorbitol Fermenting Escherichia coli (NSF E. coli). The Bacterial isolates were identifed by using morphological diagnostic methods, Samples were cultured on liquid enrichment medium, incubated at 37C? for 24 hrs, and then cultured on Cefixime Tellurite -Sorbitol MacConkey Agar (CT- SMAC). 32 non-sorbitol fermenting bacterial isolates were obtained of which 11 were identified as Escherichia coli by using traditional biochemical tests and API20E diagnostic system without differentiation between
... Show MoreBackground: Mothers are considered as the key role in effect on child's dental behavior. So it is important to involve her in oral health promotion program to prevent early childhood dental caries from occurring in early age. Objectives: To identify the knowledge, practice and attitude of mothers about the oral health of their children. And to measure the change in oral hygiene of children aged (4-7) years old after one month of interventional program on their mothers. Type of study: Non-randomized interventional.Methods: Non-randomized interventional study for one month in Al Shaab area in Baghdad to 65 mothers who have children aged (4-7) years .A modified administrated questionnaire is given to assess mothers’ knowledge, practice an
... Show MoreThree types of medical commercial creams Silvazine, Cinolon Tar and Hydroquinon Domina were incorporated in this study. The medical creams were taken directly and placed uniformly on the glass slide. Each type of pharmaceutical was weighed at 1 mg and dispersed on an area of 1x1 cm. This process ensures same thickness for all samples. The creams were analyzed by using double-beam UV/visible spectrophotometer Metertech SP8001. The absorption spectrum for each of samples was measured against wavelength range of 300–700 nm.