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: This study aims to assess the prevalence of malposed canines among students of College of Dentistry/ University of Baghdad and evaluate the relation between canine malposition and occlusal features.
Material and method: The prevalence of buccally malposed canines was estimated by intra-oral visual examination of 250 young adult subjects (106 males and 144 females), their ages were between 19-24 years.
Results: The prevalence of the mandibular malposed canine (12%) was higher than the maxillary buccally malposed canine (10%). Generally, malposed canines were found higher in f
... Show MoreKE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2014 - Cited by 5
The present research is concerned with studying the appearance and essence of meaning in contemporary sculpture by addressing the problematic how to flow of meaning its multiplicity and the flow of its surplus, resulting from the transformations of the artistic form and the variety of its methods which results to a new and different strategies in circulation and aesthetic reception to achieve this task, we have relied on models of modern Iraq sculpture, which fit in its form and raw materials with the concept of phenomenon studied. Therefore, the research topic were divided into four axes:- the first axe included an introduction about the subject. The introduction included the problems of research and its importance, aim repr
... Show MoreThe aim of this research is subjected to discover The Dictation mistakes which occur
widely in the Arabic Language written by Iraqi – News papers.
The research classified These Mistakes in Three groups as Follows:
1. The first group dealing with distinguishing between the Arabic – letter ) ا ( When Written
or ) أ ( at The beginning The word and as ) ئ ( which differ in meaning from each other .
2. The second group dealing with the writing of The Arabic ) ٙ( and as ) ٛ( at the end of The
word which differ in meaning from each other.
3. The Third group dealing with distinguishing in written The Arabic letter as ) ض( or as ) )ظ
which differ in meaning From each other.
4. The fourth group dealing with Th
Natural Bauxite (BXT) mineral clay was modified with a cationic surfactant (hexadecy ltrimethy lammonium bromide (BXT-HDTMA)) and characterized with different techniques: FTIR spectroscopy, X-ray powder diffraction (XRD) and scanning electron microscopy (SEM). The modified and natural bauxite (BXT) were used as adsorbents for the adsorption of 4- Chlorophenol (4-CP) from aqueous solutions. The adsorption study was carried out at different conditions and parameters: contact time, pH value, adsorbent dosage and ionic strength. The adsorption kinetic (described by a pseudo-first order and a pseudo-second order), equilibrium experimental data (analyzed by Langmuir, Freundlich and Temkin isotherm models) and thermodynamic parameters (change in s
... Show MoreAbstract
The leases, are regarded as one of the most controversial accounting issues in recent years, since they represents one of the important sources of funding, which may be exploited by the tenant as off- Balance sheet Financing , which negatively affects the quality of financial reporting. The Financial Accounting Standards Board (FASB) and the International Accounting Standards Board (IASB) have "significant" interest in accounting for leases . FASB issued Statement of Financial Accounting Standards 13 on lease contracts in 1976 and IASB issued IAS 17 in 1980, which was amended in 1997 and IFRS 16, issued in January 2016, which will be effective on January 1, 2019 , to solve
... Show MoreThrough the early childhood and after the ablactating the child learns acquired food habbits that might studying with him throughout his life. Here the parents role arises: teaching the child the sound food habits and hygienic styles and whatever beneficial to the health and with the sufficient quantities for the body. In this way the experiences the child learns at home will be of great help in his future life in choosing the suitable food after becoming more dependent in making his decisions and choices away from his parents. The results in this study showed that the averages of the children’s consumption of the high energy foods in comparison with the other highest consumption average , after that comes the con sumption of soft drills
... Show MoreThe plant Zizyphus spina-christa grows wildly in the middle and southern of Iraq locally named Nabag. In this study the antibacterial activity of several different plant extract (alcoholic hot and cold extract 80%, aqueous hot and cold extract) was tested against some gram negative bacteria that related to Enterobacteriacea as follow; Pseudomonas aeruginosa, Escherchia coli Proteus mirabilis, Serratia mercesence,. Aeromonas sp, Klebsiella pneumoniae ,Shigella sp, Salmonella enteritidis (134), S. typhi(97), S. typhimurium (300) , S. typhi, . The results showed that efficient method of extract was alcoholic hot extract from other extract methods that are used in this study. The detection of active compound in crude extracts of the leaves show
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