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.
To assess the effect of Nigella sativa oil as a topical preparation for treatment of oro- genital ulceration of Behcet's disease. This is a double blinded therapeutic trial in which 40 patients with Behcet's disease manifested as recurrent episodes of oral and genital ulceration were enrolled into 2 groups; Nigella sativa oil was applied as 10% in glycerin topically 3 times / daily to the first 20 patients. The other 20 were given glycerin only. Assessment was done 4 days then 8 days after treatment.Results were recorded as they appeared in clinical examination and those records were arranged in tables for both groups concerning oral and genital ulceration cases.Nigella sativa oil is a new topical agent for promotion of healing of o
... Show MoreThe electrical activity of the heart and the electrocardiogram (ECG) signal are fundamentally related. In the study that has been published, the ECG signal has been examined and used for a number of applications. The monitoring of heart rate and the analysis of heart rhythm patterns, the detection and diagnosis of cardiac diseases, the identification of emotional states, and the use of biometric identification methods are a few examples of applications in the field. Several various phases may be involved in the analysis of electrocardiogram (ECG) data, depending on the type of study being done. Preprocessing, feature extraction, feature selection, feature modification, and classification are frequently included in these stages. Ever
... Show MoreBackground:Parkinson’disease(PD) is a neurodegenerative disorder of the central nervous system characterized by resting tremor, bradykinesia, cogwheel rigidity, and impairment of postural reflexes; the frequency of PD increases with aging.Clinically Parkinson's disease characterized by two groups of symptoms: motor and non-motor symptoms.Non-motor symptoms can be categorized as autonomic, cognitive/psychiatric (may include depression, dementia, anxiety, hallucinations), sensory and rapid eye movements (REM) sleep behavior disorder (RBD).
Objectives:The objectives of this study are to find out the frequency of the non-motor symptoms of idiopathic Parkinson disease in a group of patients in Baghd
... 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 MoreBackground: 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 MoreTo determine the relationship between celiac disease and reproductive disorder, twenty two women with recurrent spontaneous abortion (18-35) years have been investigated from the period 2017/11/1 – 2018/2/1 and compared wih twenty two parentally healthy women. All studied groups were carried out to measure antitissue transglutaminase IgA and IgG antibodies by Enzyme linked immunosorbent assay (ELISA) technique, There were a highly significant differences (P < 0.01) in the concentration of anti TtG IgA and IgG Ab compared to control group, while there was non-significant differences (P > 0.05) in the concentration of anti TtG IgA according to the age group and there was a significant difference (P < 0.05) in the concentration of anti TtG I
... Show MoreObjective: The purpose of this study was to determine the association between caries related microorganisms in children’s saliva, such as Streptococcus mutans and lactobacilli, and their demographic factors. Methods: This study involved a sample of 135, both sexes with an age range between 3 and 10 years. Unstimulated saliva was obtained and diluted in normal saline. Saliva was then placed in selective media. Salivaris agar was used for mutans streptococci while Rogosa agar for lactobacilli. After incubation, Streptococcus mutans counting of CFU (colony forming units) with morphology characterization and numbers of CFU per milliliter of saliva for lactobacilli. Demographic factors information was collected using a questionnaire.
... Show MoreAdherence to cardiac medications makes a significant contribution to avoidance of morbidity and premature mortality in patients with cardiovascular disease. This quantitative study used cross‐sectional survey design to evaluate medication adherence and contributing factors among patients with cardiovascular disease, comparing patients who were admitted to a cardiac ward (