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: Periodontal diseases are one of the major dental pathologies that affect human populations worldwide at high prevalence rates The term periodontal disease usually refers only to plaque related inflammatory disease of the dental supporting tissues. Mouth rinses which act as an anti-plaque agents mostly used as adjuncts to oral hygiene. Aims of the study: To Estimate and compare the effects of Aloe vera relative to chlorhexidine on the clinical periodontal parameters (plaque index, gingival index, bleeding on probing). Material and method: A total of 44 subjects with plaque-induced gingivitis, baseline of data were collected for (PLI, GI, and BOP) and underwent oral hygiene instruction, scaling and polishing, then divided into:
... Show MoreNot necessarily to be malnutrition is a result of poverty and lack of food, it may be the outcome of the wrong food practices; and the lack of knowledge in nutrition basis and chronic diseases. Some studies have confirmed that the more the knowledge in nutrition basis increased, the more the child has well-balanced food.
Unhealthy eating habits spread among children at an early age, which is one of the negative factors affecting the nutritional status they have causing various disorders as a result of lack or increase of food or lack of balance. The signs and symptoms of these disorders can be simple or can lead to deadly diseases.
Training children on proper eating habits in different fields of life is considered the mos
... Show MoreAbstract The results of isolation, morphological and microscopic diagnosis, Chromic Agar, Vitik technology and Bact Alert showed that the diagnosis of fungi isolated from blood samples of end-stage renal patients who did not undergo dialysis and those who underwent dialysis was 60 samples for each type. The total number of fungal isolates isolated from people who did not undergo dialysis was 26 pathogenic fungal isolates, with a percentage frequency of 43.33%. In this study, 4 genera of pathogenic fungi were identified: Candida spp, Rhodotorula spp, Cryptococcus spp. and Aspergillus spp. The number of Candida isolates reached 13 isolates, with a frequency of 50%. The results also showed that the diagnosed species from the genus Rhodotorula
... Show MoreBackground: Monocyte chemotactic protein-1 (MCP-1) is a chemokine expressed by inflammatory and endothelial cells. It has a crucial role in initiating, regulating, and mobilizing monocytes to active sites of periodontal inflammation. Its expression is also elevated in response to pro-inflammatory stimuli and tissue injury, both of which are linked to atherosclerotic lesions. Aim of the study: To determine the serum level of MCP-1 in patients with periodontitis and atherosclerotic cardiovascular disease in comparison to healthy control and evaluate the biomarker's correlations with periodontal parameters. methods: This study enrolled 88 subjects, both males and females, ranging in age from 36-66 years old, and divided into four groups: 1<
... Show MoreAims: The aim of this study was to evaluate the value and accuracy of longitudinal strain in detection of coronary artery disease compared to coronary angiography. Results: The left ventricular longitudinal strain-speckle tracking showed evidence of stenosis of left anterior descending artery, circumflex artery and right coronary artery in (86.1%), (76.4%), and (84.7%) respectively. For the stenosis in left anterior descending artery, the current study showed that the longitudinal strain was a good predictor for presence of significant stenosis with a sensitivity of (93.8%), specificity (75%) and accuracy (91.7%) compared with coronary angiography. For the stenosis in right coronary artery, the left ventricular longitudinal strain had
... Show MoreMalnutrition, anemia, and micronutrient deficits may be associated with Enterobius vermicularis infection. Hence, the subject has recently received a lot of attention. The goal of this study was to analyse the nutritional, hematological and micronutrient status of children infected with E. vermicularis. This research was carried out in Baghdad from October 2021 to the end of March 2022. The study comprised 100 children of both sexes, ranging in age from 3-16 years. All individuals nutritional status was assessed using the weight-for-age Z score and the height-for-age Z score. As well as cellophane tape samples and blood samples were collected from all individuals. The cellophane tape samples were examined under microscope f
... Show MoreThat the child in the early years of his life learns a lot of experiences that help him
grow properly, and if the availability of the child family atmosphere full of love and affection
and trust he was able to grow healthy growth and is in accordance with itself and with the
community in which they live, and stop method of the child in the expression of fear on the
nature of situation and on the theme of fear and the reaction of those around the child as well
as the vague positions that can not a child from its interpretation raises his fear, and its lead in
life are the kindergarten of the growing concerns him, causing his social concern, therefore,
targeted current research to identify patterns of parental care(mot