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: The vertical distance between the upper and lower incisal edge of the central incisors when the mouth is opened as wide as possible is called maximum mouth opening (MMO). Any pathological change in the masticatory system had a direct effect on the maximal mouth opening. The aim of this study was to evaluate the relationship between the maximum bite force and the maximum mouth opening among group of children. Materials and methods: Four hundred children of both genders were included in this study, their age ranged from eight to ten years. Anterior and posterior (right, left) bite force were measured using bite force sensor. Maximum mouth opening was evaluated by electronic digital caliper. Data was statistically analyzed by de
... Show MoreThe Child is the first sedum for the human society performing, and we deal in our
research to explain the nature of the mutual relations in between the form and the medicine
social caring foundation. So the motherhood and the childhood nowadays become the most
dedicated in the researchers works, whom interesting in the social affairs, and that whom
work in the medicine field as scientists.
So the child is the future man and must be in wright body construction that need to great
care and interest to make him wright mind through capability of performing anything support
to him.
In our research we deal with the main factors in which lead to infect the child by the
creative malfunction, like the environmental and m
The present study aimed to determine the genetic divergence of seven maize genotypes (Al-Maha, Sumer, Al-Fajr, Baghdad, 5018, 4 × 1 single hybrid, and 4 × 2 single hybrid) under two varied levels of nitrogen fertilization (92 and 276 kg N ha-1). The experiment occurred in 2022 in a randomized complete block design (RCBD) with a split-plot arrangement and three replications at the College of Agricultural Engineering Sciences, University of Baghdad, Iraq. The nitrogen fertilization levels served as main plots, with the maize genotypes allocated as the subplots. The results revealed that genetic variance was higher than the environmental variance for most traits, and the coefficient of phenotypic variation was close to the genetic va
... Show MoreThis study was designed to determine the percentage and the main causative agent causing bacteremia among children aged up to 12 years and complaining from different types of infections (Respiratory, intestinal, and urinary tract infection) in Baghdad. Results showed that the percentage of infection was 46.19 % the main causative agents were Enterobacteriaceae including (E.coli , Pseudomonas , Salmonella.typhi .Serratia , Enterobacter , Klebsiella )and other than Enterobacteriaceae which includes(Staph.aureus , Staph.epidermidis , Streptococcus.Pneumonia and ?-hemolytic streptococci ) .Regarding the age factor ,results showed that the highest infection rate was among the age group (1 day-12 month ) and (12 -36month ) (64.89%)an
... Show MoreTetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart disease, for which surgical correction remains the definitive treatment. Balloon dilatation of the pulmonary artery provides recognised immediate palliative benefits in selected TOF patients. Nonetheless, optimal patient selection and midterm outcomes remain subjects of ongoing debate. This study aimed to assess midterm results following pulmonary valvoplasty at 6 months period in children with TOF focusing on defining factors that affect response to palliative therapy
Background: During Annual statistical report published by the Iraqi ministry of health the year 2004 showed that mortality rate was 0.15 per 1000 of diarrheal episodes among children under five years.Objectives: To study the occurrence of Shigellosis and Entamoeba histolytica in a sample of children from certain hospitals in Baghdad and determine its relation to some demographic factors.Methods: This cross sectional study was carried out in Baghdad city involving 400 children with bloody diarrhea under five years of age attending four hospitals, 130 cases from Central Pediatric Hospital, 110 cases from Al Mansoor Pediatric Hospital, 90 cases from Al Kadhimya Teaching Hospital and 70 cases from Mohammed Baaqir Al Hakeem Hospital for the p
... Show MoreThe research aims to
1 – The discloser of the level of moral values in the children of kindergarten.
2 - Building an educational program designed to develop moral values on the children of kindergarten.
3 - Knowing the impact of the program in the development of moral values in children
Purposive sample was selected consisted of 40 children and a child aged 5-6 years and to achieve objectives of the research promising measure of the moral values kindergarten has been applied to the children of the two groups was based on pre and post test
The aim of the research is to diagnose the methods of enhancing the value of citizenship in children through the interactive life process in educational institutions; the descriptive approach was used to achieve the objective by identifying social theories that corresponded to the national value or the theoretical principles of citizenship education. The study focused on educational activities and their role in establishing values, national educational philosophy in interactive activities, as well as the presentation of previous studies on the subject of citizenship, and maps of each of the strategies of active learning, skills in the process of interactive life in the field of education, Institutions that have the responsibility to prom
... Show MorePeriodontitis is one of the most prevalent bacterial diseases affecting man with up to 90% of the global population affected. Its severe form can lead to the tooth loss in 10-15% of the population worldwide. The disease is caused by a dysbiosis of the local microbiota and one organism that contributes to this alteration in the bacterial population is Prophyromonas gingivalis. This organism possesses a range of virulence factors that appear to contribute to its growth and survival at a periodontal site amongst which is its ability to invade oral epithelial cells. Such an invasion strategy provides a means of evasion of host defence mechanisms, persistence at a site and the opportunity for dissemination to other sites in the mouth. However, p
... Show MoreCeliac disease (CD) is an immune-mediated disorder caused by gluten in genetically susceptible individuals characterized by chronic inflammation that essentially affects the small intestine. Objective: this study was designed to measure the potential role of some serological biomarkers including vitamin B12 and homocysteine (HCY) in the progression of CD as well as their relations to global DNA methylation (5mC). Materials and methods. Forty CD patients were enrolled in the study with an average age of (36.60 ± 2.03) years (range between 15 and 60). The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy in Gastroenterology and Liver Teaching Hospital in the Medical City Hospital in Baghdad
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