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: Rheumatoid arthritis is a chronic inflammatory autoimmune disease characterized by joint inflammation, involvement of exocrine salivary and lacrimal glands may occur as extra-articular mani¬festations in this disease. This study aimed to provide evidence of altered in function and composition of salivary gland in patients with rheumatoid arthritis by determine salivary flow rate and some biochemical parameters(total protein, amylase, peroxidase) and to investigate the relationship between disease activity and changes in function and composition of salivary gland. Materials and Methods: Fifty five patients with RA (7 males and 48 females) were enrolled in this study with age range (20-69) years. The patients were separated int
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Prescribing drugs to patients to treat ailments or reducing their morbidity may not be enough, even if the drugs were all indicated and in the right dose. Clinical pharmacists play a pivotal role in conducting information and instruction to patients and conveying feedback to treating physician when appropriate, and the final goal is in the interest of the patient. Identification and classification of drug related problems and discussing them with the health care providers. Prospective, interventional, clinical study for 180 hemodialysis patients, and was designed as two phases, an observational phase to identify drug related problems and classifying them according to the latest Pharmaceutical
... Show MoreA model using the artificial neural networks and genetic algorithm technique is developed for obtaining optimum dimensions of the foundation length and protections of small hydraulic structures. The procedure involves optimizing an objective function comprising a weighted summation of the state variables. The decision variables considered in the optimization are the upstream and downstream cutoffs lengths and their angles of inclination, the foundation length, and the length of the downstream soil protection. These were obtained for a given maximum difference in head, depth of impervious layer and degree of anisotropy. The optimization carried out is subjected to constraints that ensure a safe structure aga
... Show MoreObjective The aim of this study was to assess whether serum cytokine levels correlate with clinical periodontal parameters in health or disease.
Materials and Methods Male subjects (40–60 years) with CP (n = 30), CP + CHD (n = 30), and healthy controls (n = 20) had plaque index (PLI), gingival index (GI), bleeding on probing, probing pocket depth (PPD), and clinical attachment level (CAL) evaluated. Serum IL-1β and IL-6 levels were quantified using enzyme-linked immunosorbent assay.
Results PLI, GI, PPD, and CAL were significantly higher in patients with CP + CHD compared to those with CP. Serum levels of IL-1β and IL-6 were also si
Background: Nutritional Rickets is a condition produced by an absence of Vitamin D, calcium or phosphate. It clues to relaxing and fading of the bones. Dental expression of children with rickets contains enamel hypoplasia and delayed tooth eruption. This study was conducted in order to assess caries experience (dmfs) and enamel defects among study and control groups, and to evaluate and compare the levels of selected salivary biomarkers between children with nutritional rickets and apparently healthy children. Material and methods: Assessment of caries according to WHO in 1987, and assessment of enamel defects according to enamel defect index EDI of WHO in 1997. In addition a stimulated saliva samples were collected according to Palone e
... Show MoreGingivitis, the initial stage of periodontal disease, is characterised by inflammation driven by dental biofilm and associated with oxidative stress. Matcha tea, a powdered green tea rich in antioxidants, has shown potential health benefits. This study aimed to investigate the effect of Matcha tea consumption on clinical periodontal parameters and salivary antioxidant levels in patients with gingivitis.
A randomised controlled clinical trial was conducted with 41 participants diagnosed with gingivitis.
Reprehensible during the period of human life ,particular in child hood and after weaning
baby,analmeating habits have acquired his remaining life time and here high Iights,the role of
the mother in the childs education,dietar habits, and health methods and what is beneficial to
his health and in sufficien quantities for the baby .brooze trails are learned by the childin the
home with animportant and significant role in the future,inacht.aaralgame course wisely,after
becoming more in dependent in its delision-making an choices beyond the control of parents.
The present study aimed to message measure the awareness of food the mother and her role in
the development of food awareness sons, and its relation ship with som