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.
The aim of this research is to measure the logical maturity of kindergarten children. To achieve this aim, the researcher adopted the scale of Gold Schmid and Bentler (1968), which was translated to the Arabic language by Shabili (1988). The scale was administered to a sample of (100) kindergarten children were chosen randomly from a number of kindergartens in Baghdad city for the academic year (2017-2018). SPSS was used to analyze the collected data. The results revealed there is a level of logical maturity among the kindergarten children. The researcher came out with a number of recommendations and suggestions. &
... Show MoreThe deprivation Some of the children to exercise some fine motor activities a big problem , as a consequence, this problem plays of the delay in motor development during early childhood , Usually it happens to be the reasons for the lack of the right place to play , and the lack of the presence of the tools needed to play motor, or fear excessive protection by parents for their children as a result of lack of awareness of the importance of physical activity for the child to use his fingertips and fine his muscles . In addition to that small percentage of children spend most of their time in the daily activities and skills of non-motor , Such aswatching television, or play video games or they tend to play computer and mobile but they are
... Show MoreDoses for most drugs are determined from population-level information, resulting in a standard ?one-size-fits-all’ dose range for all individuals. This review explores how doses can be personalised through the use of the individuals’ pharmacokinetic (PK)-pharmacodynamic (PD) profile, its particular application in children, and therapy areas where such approaches have made inroads.
The Bayesian forecasting approach, based on population PK/PD models that account for variability in exposure and response, is a potent method for personalising drug therapy. Its potential utility is eve
Background: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder globally. The prevalence is 25% worldwide, distributed widely in different populations and regions. The highest rates are reported for the Middle East (32%). Due to modern lifestyles and diet, there has been a persistent increase in the number of NAFLD patients. This increase occurred at the same time where there were also increases in the number of people considered being obese all over the world. By analyzing fatty liver risk factors, studies found that body mass index, one of the most classical epidemiological indexes assessing obesity, was associated with the risk of fatty liver.
Objectives: To assess age, sex, and body
... Show MoreBackground: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder globally. The prevalence is 25% worldwide, distributed widely in different populations and regions. The highest rates are reported for the Middle East (32%). Due to modern lifestyles and diet, there has been a persistent increase in the number of NAFLD patients. This increase occurred at the same time where there were also increases in the number of people considered being obese all over the world. By analyzing fatty liver risk factors, studies found that body mass index, one of the most classical epidemiological indexes assessing obesity, was associated with the risk of fatty liver. Objectives: To assess age, sex, and body mass index (BMI) as
... Show MoreGastroesophageal reflux disease (GERD) is a prevalent clinical condition, that affects millions of individuals worldwide. Objective: To assess the level of soluble HLA-E (sHLA-E) as a biomarker in the diagnosis and immunopathogenesis of GERD patients. Methods: The case-control prospective study included 40 GERD patients who were consulted at the Gastroenterology Unit of AlKindy Teaching Hospital, as along with 40 healthy control subjects. The study period extended from January 2023 to May 2024. Blood was drawn from both groups and serum was separated to assesssHLA-E using a sandwich enzyme-linked immunosorbent assay (ELISA) kit. Results: There was a statistically significant difference in sHLA-E levels between GERD patients and healthy cont
... Show MoreBACKGROUND: Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature. AIM OF THE STUDY: To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not. METHODS: During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of
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