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.
Abstract
The Verbal Violence that is directed towards sons is considered one of
the dehavioural problems that have negative reflections on the personality
of the individual . the increase in the frequency and intensity of that
behavior in the daily life may lead to psychological and behavioural
disturbances, and such behaviourhas to be stooped in an early time before it
leave negative affects on the personality of the teenager which will not be
cured or removed easily .
The family that is represented by the parents has a prominent effect In the
shaping of the teenager's personality , hence forth the normal teenage is
a reflection of a stable family life , relatively empty of disturbances and
unbalanc
The issues of journalists and media employees in general and photojournalists in particular have become important issues, especially as those issues are closely linked to the success or failure of the media process.
This research deals with (the issues of Iraqi photojournalists working in local and foreign institutions in Iraq - a case study in 2012), because of the ambiguity in identifying those issues, which focused on the issues of this research.
This was done through the research community of members of the Association of Iraqi photojournalists in Baghdad exclusively of (64) photographers and television photographers to identify the problems encountered in their work
... Show MoreSeventy of Klebsiella pneumoniae isolates had been collected from some Hospitals in Baghdad city from October to December 2017. The 70 isolates were taken from diverse clinical specimens. All K. pneumoniae isolates were identified based on API 20 E and Vitek2 compact system. Antibiotics sensitivity test was carried out toward 10 antibiotics using discs diffusion method. The level of antibiotics resistance was 81.42% for Ceftriaxone, whereas the low level of antibiotics resistance was 37.14% for Piperacillin. K. pneumoniae isolates were typed genotypically by using two different methods of amplification, multiplex-PCR and enterobacterial repetitive intergenic consensus (ERIC)-PCR typing methods. Results showed that out of 70 isolates, there
... Show MoreIn the United States, the pharmaceutical industry is actively devising strategies to improve the diversity of clinical trial participants. These efforts stem from a plethora of evidence indicating that various ethnic groups respond differently to a given treatment. Thus, increasing the diversity of trial participants would not only provide more robust and representative trial data but also lead to safer and more effective therapies. Further diversifying trial participants appear straightforward, but it is a complex process requiring feedback from multiple stakeholders such as pharmaceutical sponsors, regulators, community leaders, and research sites. Therefore, the objective of this paper is to describe three viable strategies that can p
... Show MoreThis study wass carried out to investigate the incedence of powdery mildew disease on ornamental plants (Nasturtium) Tropaeolum majus L. caused by Oidiopsis haplophylli in some nurseries of Baghdad area and in fields at college of Agriculture /University of Baghdad. This study was conducted in tow succesive seasons of 2011-2012 (April and May). The survey indicated that the Mildew disease existe in the following nurseries (Al-Adhamiya 97.5% ,Palestine street 93.8%, Zayouna 86.0%, and 100% in two fields at college of Agriculture. It has been found that the disease severity was developed in Agriculture college fields successively from 12-4-2011 to 20-5-2011 and from 12-4-2012 to 20-5-2012 (18.0–98.0 % and 22.7–96.0% )for the two sea
... Show MoreThe present study was Conducted to evaluate the effect of amixture of three species of arbuscular mycorrhizal fungi ( Glomus etunicatum , G. leptotichum and Rhizophagus intraradices ) in Influence on the percentage of the components of NPK and protein of tomato leaves and roots infected with Fusarium oxysporum f.sp. Lycopersici wich cause Fusarial wilt disease , planted for 8 weeks in the presence of the organic matter ( peatmose) , using pot cultures in aplastic green house , Results indicated significant increase in the percentage of the elements of NK and protein of tomato leaves and roots In the control treatment (C), While the percentage of the element P was after infection with the pathogen 4 weaks after mycorrhizal colonization in al
... Show MoreAbstract The present study was Conducted to evaluate the effect of amixture of three species of arbuscular mycorrhizal fungi ( Glomus etunicatum , G. leptotichum and Rhizophagus intraradices ) in Influence on the percentage of the components of NPK and protein of tomato leaves and roots infected with Fusarium oxysporum f.sp. Lycopersici wich cause Fusarial wilt disease , planted for 8 weeks in the presence of the organic matter ( peatmose) , using pot cultures in aplastic green house , Results indicated significant increase in the percentage of the elements of NK and protein of tomato leaves and roots In the control treatment (C), While the percentage of the element P was after infection with the pathogen 4 weaks after mycorrhiza
... Show MoreIntroduction: Cardiovascular diseases are the main cause of death among type 2 diabetic patients. Higher levels of plasminogen activator urokinase receptor have been found to predict morbidity and mortality across acute and chronic diseases in the common populace. This study aims to explore the role of serum plasminogen activator urokinase receptor levels as a cardiometabolic risk factor among type 2 diabetic Iraqi patients. Methods: Seventy type 2 diabetic patients (40 male and 30 female) (mean age: 46.20±7.56 years) participated in this study; 35 patients were with cardiovascular disease and 35 were without cardiovascular disease; their ages range was 40-55 years. In addition, 30 individuals who apparently healthy were selected a
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