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.
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 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
Background: 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 MoreBackground: The internally displaced children are vulnerable groups have less access to dental services, worse oral health, and bear a disproportionate burden of oral diseases. Aim of the study: This study was conducted on group of internally displaced children living in Baghdad governorate camps to measure their dental caries prevalence and experience and find out the association between dental caries and the duration of displacement in camps. Subjects and methods: A sample of 1393 children were selected, 567 internally displaced children from camps in Baghdad governorate and 826 school children as control matching in age and gender. The age of children ranged from 5-12 years old. Oral examination was performed using WHO 2013 criteria, to
... Show MoreThe objective of this study was to assess the nutritional status of childs of nurseries in Baghdad city so that an early detection of malnutrition cases could be carried out. The results revealed that the daily consumption of food calories, protein, fat and carbohydrate were 1180.5 calories, 27.2gm, 38gm and 180gm, respectively, which were less than the RDA values and the percentages of these nutrients supplied by the food intake were 90.8, 83.7, 87.3 and 90.3%, respectively. It was also demonstrated that the highest percentages of stunting, underweight and wasting, which amounted to 32, 22.7 and 1.5%, respectively, were among those childs who obtained inadequate calories, while the percentages of the forementioned malnutrition cases amon
... Show MoreThe objective of this study is to determination the content of some heavy metals (lead, cadmium, chromium) in colored tattoo stickers. twelve kinds of colored tattoo stikcers were collected from Baghdad markets, it was estimated heavy metals using atomic absorption spectrophotometer (Shimadzu A5000). The results indicated the concentrations of lead in all samples (1.61_1.00 mg / kg) and chromium in the three samples (0.85_0.97 mg / kg) while other samples are free of chromium , and cadmium. These elements are the components of printing inks and dyes in tattoo stickers, and this does not conform to the health and safety conditions for the packaging of food according to the organizations of the health and safety of
... Show MoreBackground: Therapeutic communication is the basis of interactive relationships among nursing team and their children: that affords opportunities to establish rapport, understand the client’s experience, formulate individualized or client interventions and optimize health care resources.
Objectives: The main aim of the study is to determine the Effectiveness of Education Program on Nurses’ Knowledge about Communication Skills with Children.
Methodology: A quasi-experimental study was conducted in Children Welfare Teaching Hospitals from 7th, October 2018 to the 20th, May 2019. The program and instruments have been constructed by the researcher for the purpose of the study. A non- prob
... Show MoreTo determine the relationship between celiac disease and reproductive disorder, twenty two women with recurrent spontaneous abortion (18-35) years have been investigated from the period 2017/11/1 – 2018/2/1 and compared wih twenty two parentally healthy women. All studied groups were carried out to measure antitissue transglutaminase IgA and IgG antibodies by Enzyme linked immunosorbent assay (ELISA) technique, There were a highly significant differences (P < 0.01) in the concentration of anti TtG IgA and IgG Ab compared to control group, while there was non-significant differences (P > 0.05) in the concentration of anti TtG IgA according to the age group and there was a significant difference (P < 0.05) in the concentration of anti TtG I
... Show MoreBackground: Chronic periodontitis is an inflammatory disease of tissues supporting the teeth. Salivary compositions have been most intensely studied as a potential marker for periodontal disease. In this study, analysis of saliva provides a simple and non-invasive method of evaluating the role of salivary IgA (s-IgA) levels in periodontal disease by detecting the level of (s-IgA) in patients with chronic periodontitis smokers and non smokers patients and correlate the mean (s-IgA) levels with clinical periodontal parameters Plaque index (PLI) gingival index (GI), probing pocket depth (PPD) and clinical attachment level (CAL). Materials and Methods: The study samples consists of (15) patients with chronic periodontitis who were non smokers (
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