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 aim of this research is to measure the logical maturity of kindergarten children. To achieve this aim, the researcher adopted the scale of Gold Schmid and Bentler (1968), which was translated to the Arabic language by Shabili (1988). The scale was administered to a sample of (100) kindergarten children were chosen randomly from a number of kindergartens in Baghdad city for the academic year (2017-2018). SPSS was used to analyze the collected data. The results revealed there is a level of logical maturity among the kindergarten children. The researcher came out with a number of recommendations and suggestions. &
... Show MoreChildhood is characterized by ahigh privacy in the life of the child overall educational institutions in the world. Based on this specificity, modern education begins with a holistic vision of the child through all developmental aspects (moral, religious, emotional, social, linguistic, physical, health, and mental). This integration could be achieved through taking into consideration the needs and rights of children and developing curricula that consider these needs and capacities to provide opportunities for developing and supporting the developmental aspects of the child. The contemporary technological developments in the field of computer and the Internet have brought with it new forms, ideas, and problems for children in recent years
... Show MoreDoses for most drugs are determined from population-level information, resulting in a standard ?one-size-fits-all’ dose range for all individuals. This review explores how doses can be personalised through the use of the individuals’ pharmacokinetic (PK)-pharmacodynamic (PD) profile, its particular application in children, and therapy areas where such approaches have made inroads.
The Bayesian forecasting approach, based on population PK/PD models that account for variability in exposure and response, is a potent method for personalising drug therapy. Its potential utility is eve
As a marker of systemic inflammation, raised (C-reactive protein (CRP)) concentrations which are still within the normal range have been associated with an increased inflammation of chronic renal diseases (CRD). The current study aimed to establish potential determinats of raised CRP concentrations in patients who treated in Heamodialysis room,then study the relationship between CRP& some biochemical parameters related CRD We used a CRP latex reagents Kit which is based on an immunological reaction between CRP antisera bounded to the biologically inert latex particles or with CRP in the test specimens of 19 patients with (CRD) mean age 48 years ,range = 30?65 & in 21 healthy subjects as control group their age range = 30 ?45 years. The
... Show MoreBackground: The use of minerals in treatment of different diseases is as old as man himself. zinc is the most famous trace mineral related to male sexual function. Oligoasthenozoospermic subfertile patients were treated with zinc sulphate for three months.
Objectives: Aim of the research is to investigate the role of Zinc and if it affects the abnormalities of some semen parameters and to study the possible role of pharmaceutical preperations of zinc in amelioration of male subfertility as well as to assess the ability of Zinc to induce changes in the serum and semen zinc levels in addition to the levels of reproductive hormones (FSH and Testosterone).
Type of the study:
... Show MoreAccording to so many previous studies, lack of sufficient information during prescribing steps may lead to medication errors. Thus, the presence of the clinical pharmacist during routine rounding process in the ward with intervention of patient care plan may reduce the probability of adverse drug events (ADEs).This study evaluate role of the clinical pharmacists, as a member of medical team with the physician, on ADEs and report their interventions in the internal medicine unit. This study was designed to compare between two groups of patients, those receiving care from a rounding team (physician, nurse, and clinical pharmacist) (study or intervention group with 51 patient); and those receiving c
... Show MoreLeishmaniasis is a transmissible infection brought about by an obligatory intracellular protozoan from the genus Leishmania. It occurs worldwide in tropical and subtropical regions and can be burdensome in resource-constrained countries. The infection ranges in severity from mild cutaneous lesions to more severe and sometimes life-threatening visceral and distorting mucocutaneous sicknesses. Importantly, cutaneous leishmaniasis (CL) is prevalent in the Middle East with a pooled prevalence of 12%. It imposes a significant health and socioeconomic burden
This study aims to identify maternal death cases caused by Coronavirus infection 2019 pneumonia, including disease progression, fetal consequences, and the fatality cause.
Patients and methodology: A retrospective case collection of Iraqi pregnant women in their second and third trimesters diagnosed with COVID-19 pneumonia and died due to it.
The four cases were all of a young age, had a brief complaint period, and had no comorbidities. Fever, dyspnea, and fatigue were the most common symptoms. Hypoxia was present in all cases and was the cause of mortality in three cases, with thromboembolism being a potential cause in the fourth. Prelabour membrane breakup, fetal growth restriction, and fetal death are al
... Show MoreThis study aims at detecting the differences in genotyping of coding region fusA gene in clinical isolates of Acinetobacter baumannii from Baghdad, Iraq. Collected two hundred clinical samples (50 samples from urine, 50 samples from wound, 50 samples from sputum and 50 samples from otitis infections). Laboratory diagnosis for bacterial isolates carried out by some biochemical tests and confirmed by using VITEK- 2 compact system. The results appeared that twenty isolates of Acinetobacter baumannii in all these samples. Genotyping study was performed of coding region fusA gene of the extracted genome of all bacterial isolates and used specific primers in achieved amplification process of this target gene. DNA sequencing of this gene and alig
... Show MoreThe current research aims to: 1- Identify the emotional sensitivity of children from the parents' point of view. 2- Identifying the differences in the emotional sensitivity of children from the parents ’point of view, according to the parents’ gender variable (father - mother). The basic research sample consisted of (285) male and female students from the sixth grade (primary school), chosen in a randomized stratified method from the districts (Al-Karkh and AlRasafa). While the sample of statistical analysis amounted to (200) father and (200) mothers of male and female students who were randomly selected from the sixth grade of the education directorates (Al-Karkh and Al-Rasafa). The two researchers also used a number of sta
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