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.
Rheumatoid arthritis (RA) is characterized by persistent joint inflammation, which is a defining feature of this chronic inflammatory condition. Considerable advancements have been made in the field of disease-modifying anti-rheumatic medicines (DMARDs), which effectively mitigate inflammation and forestall further joint deterioration. Anti-tumor necrosis factor-alpha (TNF-α) drugs, which are a class of biological DMARDs (bDMARDs), have been efficaciously employed in the treatment of RA in recent times Adalimumab, a TNF inhibitor, has demonstrated significant efficacy in reducing disease symptoms and halting disease progression in patients with RA. However, its use is associated with major side effects and high costs. In addition,
... Show MoreBackground: Waterpipe tobacco smoking has become common especially among young people, Waterpipe smoking misconcepted as a safer mean of smoking, so in this study we will highlight the effect of Waterpipe smoking ‎on periodontal and oral health.‎ Materials and method. The selected ‎‎‎100 male subjects of 30-40 years, ‎categorized into 4 groups (each group ‎‎25 subject): Waterpipe smoker ‎with ‎healthy periodontium, ‎Waterpipe smoker ‎‎with chronic periodontitis, Non-‎‎smoker ‎with healthy periodontium and Non-smoker ‎with chronic periodontitis. Whole ‎unstimulated ‎saliva was collected. Clinical measurements: plaque ‎index
... Show MoreThe aim of this research to show the role of some enzymes in pathological mechanism of rheumatoid arthritis (RA) disease. Sixty patients with RA and matched number of apparently healthy volunteers were included in the study. Spectrophotometric methods were used to determine Peroxy nitrite (ONOO), Nitric oxide (NO), Nitric oxide synthase activity (NOS) cycloxygenase-2 activity (COX-2), glutathione peroxidase (GPX) activity and superoxide dismutase (SOD) activity in serum of both groups. Colorimetric assay kits were used to determine Iron. Rheumatoid factor (RF) was determined using Imuno-Latex kit. ONOO, NO levels, and NOS activity were significantly higher in the patients compared to the control group. Conversely, Iron level, SOD
... Show MoreThe aim of this study is to evaluate the association between IBD and oral symptom and mucosal lesions in patients with Crohn’s disease and ulcerative colitis
Methods: This is a cross-sectional study that has been done in (Kurdistan center for Gastroenterology and hepatology) of Teaching Hospital in Sulaymaniyah-Iraq, which included 101 patients previously diagnosed with Inflammatory Bowel Disease who were interviewed regarding manifestations of inflammatory bowel disease especially oral manifestations. Required data were collected through a specially designed questionnaire,
Results: The patients’ mean age was 45.74±12.58 years. Patients with ulcerative colitis and Crohn’s disease w
... Show MoreBackground: Sialosis described as a specific consequence of diabetes. In diabetic sialosis, the increased volume of the glands is due to the infiltration of adipose in the parenchyma. The B-scan ultrasonography is a generally accepted tool for determining parotid gland enlargement. Oral health is, to a greater extent, dependent on quality and quantity of saliva, both of which may be altered in diabetics. This study was established to detect the enlargement of parotid gland in diabetic patient and study the changes in physical properties of saliva and its relation with the salivary gland enlargement. Subjects, Materials and Methods: A cross-sectional study with highly specified criteria with ages ranged (20-65) years, male and female subject
... Show MoreThe aim of the current research is to construct a scale of emotional adjustment for kindergarten children and to set a standard for its evaluation. To achieve this, a scale consisting of (19) items was prepared. The mother of the child answered by adopting the method of self-report, which is expressed in the form of reporting terms, as each item represents a situation in the child's life and each situation has three alternatives to answer that represent various responses to the mentioned situation. One of the alternatives represents the emotionally adaptive response, which is given a degree (3), the second response expresses the emotional adjustment partly that took the degree of (2), and the third response expresses the weakness of emot
... Show MoreBackground: Nutritional status during childhood is very important for individual development and growth. Nutrition has local and systemic effect on the oral health by affecting dental health and salivary composition. This study was aimed to determine effect of iron, sodium and potassium ions in saliva on the nutritional status and to determine the effect of nutritional status on caries severity among preschool children. Material and Methods: The sample consists of 90 children aged 4 and 5 years of both genders, selected from 6 kindergartens in Al-Resafa aspect of Baghdad province. Children classified according to their nutritional status into three groups (normalweight, underweight and overweight). Nutritional status was determined by usi
... Show MoreAbstract:
The current research aims to distinguish the talent for the kindergarten
children and its relation with some changes . The research included ( 170 )
child (male , female ) from the kindergarten children on the year 2009 – 2010
the researcher had used PRED meter to achieve the goals of this research
after being sure from the honesty and the prove and the ( person ) connection
coefficient had been used to discover the relation between the talent and the
changes which had been mentioned in the research . The result proved that
the children had talents the toys and the educational scientifically scholarship
finally the researcher had presented some recommendations and suggestions
for other studies .<