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.
CD40 is a type 1 transmembrane protein composed of 277 amino acids, and it belongs to the tumor necrosis factor receptor (TNFR) superfamily. It is expressed in a variety of cell types, including normal B cells, macrophages, dendritic cells, and endothelial cells, as a costimulatory molecule. This study aims to summarize the CD40 polymorphism effect and its susceptibility to immune-related disorders. The CD40 gene polymorphisms showed a significant association with different immune-related disorders and act as a risk factor for increased susceptibility to these diseases.
Abstract: Background: Prediabetes and are increasing in prevalence all over the world, they each carry risks to the future development of diabetes mellitus and cardiovascular disease. These risks will be greatly exaggerated if they occur together in the same individual. The aim of the study was to find the prevalence and the association of prediabetes and metabolic syndrome, in addition to analyzing the correlation of the risk factors that lead to their development. Material and Methods: This was a cross-sectional, simple random study that included 300 Iraqi individuals, aged between 30-75 years, who accepted to take part in this study were recruited. Result: Prevalence of prediabetes and metabolic syndrome was (33.66%) and (42%) r
... Show MoreThis study aims to identify the role of satellite channels in imparting behavior to children from the point of view of their parents in Tulkarm city. The researcher used a descriptive technique. A sample of (18000) males and females married couples was used above 20 years old in the city of Tulkarm. The study sample size is (201) married couples. It took place in September 2020. The questionnaire was the main tool for collecting data. The study found that the total degree of satellite channels contribution in imparting negative behaviors to children was high, as it reached (72.20%). The total degree of the role of satellite channels in imparting positive behaviors to children was medium, reaching (69.20%). Moreover, the results also indi
... Show MoreKE Sharquie, AA Noaimi, SA Galib, Journal of Cosmetics, Dermatological Sciences and Applications, 2013 - Cited by 4
The aim of this study was to assess the effectiveness of listening to music or Quran in reducing cancer patients’ anxiety before chemotherapy administration. Reducing anxiety in people with cancer, prior to chemotherapy administration, is a crucial goal in nursing care.
An experimental comparative study was conducted.
A simple randomization sampling method was applied. Two hundred thirty‐eight people with cancer who underwent chemotherapy were participated. They are assigned as Quran, music and control groups.
Background: Saliva is a specific bio-fluid with important biomarkers. Analyzing any alternation in these markers could give valuable information, in relation to oral health status parameters. The aim of this study was to investigate the level of α -amylase in unstimulated whole saliva of healthy, primary school children in relation to some oral health parameters. Materials and Methods: A questionnaires consisted of demography and medical histories of participants were filled by children families. Saliva samples were collected for 5- minutes between 9:00 -11:00 AM from 114 healthy students aged 6-13 years, divided into four age groups. Flow- rate, Plaque and Gingival Index were assessed and dentition status was investigated by DMFT/dmft
... Show More98 samples were collected from various clinical sources included (Burns, wounds, urines, sputums, blood) From the city of Baghdad, After performing the biochemical and microscopic examination, 52 isolates were obtained for Pseudomonas aeruginosa, 17 (32.7%) isolates from burn infection, 12 (23%) isolates from Wound infection 11 (21.2%) isolates from urine infection, 7 (13.5%) isolates of sputum and 5 (9.6%) isolates from blood. Bacteria susceptibility to form biofilm has been detectedby microtiter plate method, The results showed that 80% of the bacterial isolates were produced the biofilm with different proportions, alg D gene (alginate production) has been detected by polymerase chain reaction (PCR) Which plays an essential role in the fo
... Show MoreThe sunflower plants are attacked by serious seed and soil-borne pathogens including charcoal rot disease that caused by
Morphological and molecular identification was done, using universal primers for molecular identification. Finally, a greenhouse experiment was conducted, and