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.
Objectives: The study aims to: (1) assess psychological distress in parents of autistic children, (2) identify the
relationship between psychological distress and parents' socio-demographic characteristics such as (age, marital
status, relationship with child, educational level and monthly income) and (3) identify the relationship between
parent's distress and some of children' socio-demographic characteristics such as (gender, age, birth order and
mean number of children).
Methodology: A descriptive–analytical study that was carried out from December 12th, 2011 to May 1st, 2012.
on a purposive (non- probability) sample of 120 parents (father and mother) who have children with autism and
send their children to the
Amis: NAFLD is considered to be the most common cause of liver conditions worldwide. Also, it is a primary reason that leads to coronary artery diseases, limiting blood flow to the heart. Therefore, This study aimed to evaluate the serum level of Nesfatin-1 and its ability to indicate the prognosis of CAD in patients with NAFLD. Material & Methods: one-hundred eighty Individuals were enrolled in the study, including In both genders, blood was collected from each Individual and sent to the laboratory for biochemical tests. Findings: Data from the current study showed a significant increase in Nesfatin-1 in the CAD group and a significant decrease in Nesfatin-1 in the NAFLD group compared to the control group. In addition, there w
... Show MoreBackground: With the start of the current century, increased the interest in the role of the adipose tissue derived substances that named adipokines in the inflammatory diseases of the human being including the inflammatory periodontal disease, but scientific evidences were not clearly demonstrate the association between these adipokines and periodontal pathologies. Materials and Methods: Forty two subjects male only with normal body mass index were selected for the study with an age ranged (30-39 years). Samples were divided into three groups of 14 subjects in each group based on clinical periodontal parameters; clinically healthy gingiva (group I), gingivitis group (group II) and chronic periodontitis patients group (group III), from whom
... Show MoreMethicillin resistant Staphylococcus aureus (MRSA) is one of the principal nosocomial causative agents. This bacterium has the capability to resist wide range of antibiotics and it is responsible for many diseases like skin, nose and wounds infection. In this study, randomly amplified polymorphic DNA (RAPD)-PCR was applied with ten random primers to examine the molecular diversity among methicillin resistant Staphylococcus aureus (MRSA) isolates in the hospitals and to investigate the genetic distance between them. 90 Isolates were collected from clinical specimens from Iraqi hospitals for a total of 90 isolates. Only 10 strains (11.11%) were found to be MRSA. From these 10 primers, only 9 gave clear amplification products. 91 fragment l
... Show MoreAA Al-Nuaimy, Iraqi J Comm Med, 2008 - Cited by 3
Mammary tumors (CMT) in dogs in Iraq may be induced by carcinogenic war ordnance. In our study, 10 virgin un- spayed military/pet bitches aged 5-15 years presented with abnormal masses in the abdomen with painful oedema, swelling, anorexia, weight loss, weakness and mild fever. Examination of regional lymph nodes and thoracic radiography confirmed metastasis. Tumors were excised and determined to be mostly adenocarcinomas involving multiple glands, solid in texture, 5-15 cm in size, mostly in the inguinal mammary glands at stage T3: >5 cm. Microscopy confirmed presence of adenocarcinoma in 8 dogs and solid carcinoma in 2 with half of tumors being grade III. Tumors had pleomorphic hyperchromatic cell nuclei in stroma, epithelial cells of duc
... Show MoreThe magazine covers the subjects of (simplicity and complexity in the visual layout of the designs of magazine coverings of children) Chapter I The problem and importance of the goal and limits of research and addition to Terminology. In the second chapter the theoretical framework in which the first topic the role of simplicity and complexity in the design and the second section Visual design and design relations and the third research design in magazine covers and the third chapter includes the methodology of research and analysis and the results and conclusions and sources and the most important result of the research is (simplicity and complexity of design, Continuity and vitality and attract the attention of the receiver through the
... Show MoreIn the past two decades, maritime transport traffic has increased, especially in the case of container flow. The BAP (Berth Allocation Problem) (BAP) is a main problem to optimize the port terminals. The current manuscript explains the DBAP problems in a typical arrangement that varies from the conventional separate design station, where each berth can simultaneously accommodate several ships when their entire length is less or equal to length. Be a pier, serve. This problem was then solved by crossing the Red Colobuses Monkey Optimization (RCM) with the Genetic Algorithm (GA). In conclusion, the comparison and the computational experiments are approached to demonstrate the effectiveness of the proposed method contrasted with other
... Show MoreText based-image clustering (TBIC) is an insufficient approach for clustering related web images. It is a challenging task to abstract the visual features of images with the support of textual information in a database. In content-based image clustering (CBIC), image data are clustered on the foundation of specific features like texture, colors, boundaries, shapes. In this paper, an effective CBIC) technique is presented, which uses texture and statistical features of the images. The statistical features or moments of colors (mean, skewness, standard deviation, kurtosis, and variance) are extracted from the images. These features are collected in a one dimension array, and then genetic algorithm (GA) is applied for image clustering.
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