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: Chronic periodontitis is an inflammatory disease of tissues supporting the teeth. Salivary compositions have been most intensely studied as a potential marker for periodontal disease. In this study, analysis of saliva provides a simple and non-invasive method of evaluating the role of salivary IgA (s-IgA) levels in periodontal disease by detecting the level of (s-IgA) in patients with chronic periodontitis smokers and non smokers patients and correlate the mean (s-IgA) levels with clinical periodontal parameters Plaque index (PLI) gingival index (GI), probing pocket depth (PPD) and clinical attachment level (CAL). Materials and Methods: The study samples consists of (15) patients with chronic periodontitis who were non smokers (
... Show MoreBackground: In December 2019, an episode of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARSCoV2) was reported in Wuhan, China and has spread around the world, increasing the number of contagions. Cytomegalovirus (CMV) and Epstein-Barr virus (EBV) are common herpesviruses that can cause persistent latent infections and affect the developing immune system.The study was conducted to explore the prevalence and reactivation of CMV and EBV antibodies in COVID-19 patients group in comparison to healthy group and to investigate the association between the presence of these viruses with each of severity of disease and oral hygiene. Materials and Methods: Eighty Five subjects were participated in this case control study (5
... Show MoreThe current study aimed to assess the biological efficacy of the triple arbuscular mycorrhiza (AM) mixture of fungi Glomus etunicatum, G. leptotichum and Rhizophagus intraradices, and mix it with organic matter (O) and pathogenic fungi Fusarium oxysporum f.sp.lycopersici by using voyeurism in the plastic house in the growth of the tomato plant after four and eight weeks of cultivation. The results were shown after the treatment of the tomato plant in agriculture with the mixture of mycorrhiza and the pathogenic fungi and organic matter were treated with the mixture of mycorrhiza, organic matter and pathogenic fungi together. The effect of mycorrhiza and organic matter interference on the increase in the percentage of the lignin afte
... Show MoreThyroid dysfunction may be a hidden risk factor in children with both cyanotic and acyanotic congenital heart disease. Left and right ventricular cardiac functions may be impaired in children diagnosed with subclinical hypothyroidism (SCH). While this association with cyanotic heart disease is well documented, this issue remains underexplored in cases of acyanotic heart disease.
The objective of this study is to evaluate the level of cytokines IL-1?, IL-10 and IL-17A in the serum of patients with Alzheimer's disease (AD), vascular dementia (VD) and down syndrome (DS). The results showed that Serum level of IL-1? was significantly increased in AD patients (3.79 ± 0.26 pg/ml) as compared with DS patients (2.78 ± 0.39 pg/ml) or controls (2.78 ± 0.22 pg/ml), while no significant difference was observed between AD and VD (3.25 ± 0.20 pg/ml) patients or between VD patients, DS patients and controls. The serum level of IL-10 was approximated in VD and DS patients and controls (3.39 ± 0.24, 2.77 ± 0.39 and 3.41 ± 0.35 pg/ml, respectively), but was significantly (P ? 0.05) increased in AD patients (5.73 ± 0.55 pg/ml
... Show MoreBalad –Rooz is considered as one of the endemic foci of Schistosomiasisin Iraq.A survey was performed during the first three months of 2002 in fewprimary schools in Balad –Rooz to assess the prevalence among them.
Environmental exposures to lead remain a serious problem in the developing and industrializing countries. Children are the highest risk aged-group for lead poisoning. This study was designed to assess lead exposure in Al-Fallujah city by analyzing blood lead levels in children and adults and to explain the relationship between blood lead levels, hematological parameters and ferritin levels in the children. The study was performed on-(90) subjects, (65children and 25 adults).Venous blood samples were taken for estimation of hematological parameters, serum ferritin levels and blood lead levels. The children group was subdivided into four groups as: group (A) (low ferritin, low Hb), group (B) (low ferritin, normal Hb), group (C) (normal fer
... Show More