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.
The virulent genes are the key players in the ability of the bacterium to cause disease. The products of such genes that facilitate the successful colonization and survival of the bacterium in or cause damage to the host are pathogenicity determinants. This study aimed to investigate the prevalence of virulence factors (esp, agg, gelE, CylA) in E. faecalis isolated from diverse human clinical collected in Iraqi patient , as well as to assess their ability to form biofilm and to determine their haemolytic and gelatinase activities. Thirty-two isolates of bacteria Enterococcus faecalis were obtained, including 15 isolates (46.87%) of the urine, 6 isolates (18.75%) for each of the stool and uterine secretions, and 5 isolates (15.62%) of the wo
... Show MoreBackground: The primary stability of the dental implant is a crucial factor determining the ability to initiate temporary implant-supported prosthesis and for subsequent successful osseointegration, especially in the maxillary non-molar sites. This study assessed the reliability of the insertion torque of dental implants by relating it to the implant stability quotient values measured by the Osstell device. Material and methods: This study included healthy, non-smoker patients with no history of diabetes or other metabolic, or debilitating diseases that may affect bone healing, having non-restorable fractured teeth and retained roots in the maxillary non-molar sites. Primary dental implant stability was evaluated using a torque ratc
... Show MoreNews feeds are at the forefront of news forms that are close to the public's attention for their rapid news content in two directions:
- its speed in summarizing events in one or two sentences easy to be understood and realized.
- highlight the most important contents of screenings or news broadcast.
The researchers felt that the importance of these brief news compared to news broadcast, breaking news and news subtitle are still ambiguous, as well as their contents.
The researchers selected the city of Baghdad as a community to research and prepare a questionnaire form containing (11) questions.
The questionnaires were distributed to a non-relative stratified
... Show MoreMost medical books and researches documented that increased body weight is a predisposing factor to hypertension , and there is recent work in this field as well. In this research , the relationships between hypertension and body weight with age were studied in Iraqi population . It is concluded that diastolic hypertension is separated from systolic and combined hypertension and increased body weight has little effect on increased blood pressure.
The musical templates are the fundamental reason for admiration and interest among a lot of cultural and societal medias because of the beauty of it's melodic value, where a lot of Iraqi singing and music specialists and composers try to consolidate daily life idea and translate it into music in a manner that preserve the template and rhythm horizontally and vertically, through the involvement of the scientific and philosophical concepts and theories of modern thought to reach the recipient,, as is the theory of form (Gestalt), one of the most important theories that stretched to their interpretations to the field in general art and in music science, especially, as an area that can be manifested as partial components template music, conn
... Show MoreThis study shows impoliteness as a form of face-threatening that can be intentionally caused by verbal threats in a particular setting. It investigates: what strategies and mitigators do Iraqi-Kurdish English as a foreign language (EFL) learners use in situations of threat responses? The present investigation paper aims to examine impoliteness strategies and mitigators by these learners when they respond to threatening situations in their context. Thus, it fills a gap in pragmatics literature by investigating the reactions to threats in an Iraqi-Kurdish EFL context. To this end, 50 participants have participated in this study. An open-ended questionnaire in the form of a Discourse Completion Task (DCT) is used to elicit responses fr
... Show MoreBackground: Osteoarthritis (OA) is a degenerative joint disease. It is one of the major causes of disability in developed and developing countries. Human leukocyte antigen (HLA) as part of immune system has a role in the disease process.Objectives: To investigate whether there is an association between HLA class II-DRB and OA.Methods: A case control study with 26 patients with osteoarthritis and 22 apparently healthy obese control persons matching in ethnicity were enrolled in this study during the period between October 2012 till March 2013. Direct interview was done with each patient and HLA typing was done by molecular method using Sequence Specific Primer (PCR-SSP) method using One Lambda Kit-USA. Results: The results showed that fem
... Show MoreObjectives: In developing countries like Iraq, diarrhea was responsible for 70% of deaths among pediatrics. This study was designed to determine Iraqi mothers’ knowledge and malpractices associated with diarrhea management in pediatrics.Methods: A cross-sectional pilot study was done on a convenient sample of mothers in Baghdad – Iraq. Data collection was done using a validated questionnaire specifically designed for this study.Result: Most participants preferred to consult physicians or pharmacists about pediatrics diarrhea management. Breastfeeding was stopped by 19% of participants, whereas 35% of mothers who depend on formulated milk discontinued it. Only 30% of participants use oral rehydration solution therapy always as a
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