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 rapid increase in the number of older people with Alzheimer’s disease (AD) and other forms of dementia represents one of the major challenges to the health and social care systems because of a large number of people affected. Early detection of AD makes it possible for patients to access appropriate services and to benefit from new treatments and therapies, as and when they become available, and to plan for the future. The onset of AD starts many years before the clinical symptoms become clear. A biomarker that can measure the brain changes in this period would be useful for early diagnosis of AD. Potentially, the electroencephalogram (EEG) can play a valuable role in early detection of AD. Damage caused to the brain due to AD leads t
... Show MoreFour species of insects, Carpophillus obsoletus Er., Carpophilus sp., Bitoma lycnformis Wall and Scatopse sp., were found in association with infected spathes of date palm with Mauginella scaettae Cav. The later fungus was the dominant species isolated in pure cultures both from diseased spathes and from contaminated insects. Bitoma lycriformis is the first record for Iraq.
The results showed the spread of disease blight leaves caused by injury fungus Alternaria in different areas of cultivation in the city of Baghdad where he was recording the highest rate and the severity of the disease of 100% and 80%, respectively, in the Abu Ghraib area and the least of 20% and 12% respectively in the Amiriya district results showed test pathogenicity of the fungus pathogen emergence of symptoms of the disease superficial discoloration Authority of black paper when wound areas and yellowing of leaves about race as centrist and leaky latest country clear ????? on Central race after 48 hours ....
The local study were selected 70 Iraqi Arab Patients (39 females and 31 males), who referred to HLA laboratory in teaching laboratories in Baghdad medical city from April 2009 – May 2010 were diagnosed with Behcete's disease, C-reactive protein concentration(CRP) was evaluated by ELISA technique, anti-nuclear antibody (ANA) and anti-neutrophil cytoplasmic antibody (ANCA) were evaluated by Indirect immunofluorescence technology. The result showed significant differences (P<0.05) of CRP concentration in patients group compared with control, negative antinuclear nuclear antibody in all cases while ANCA was positive in 8.5% of patients with type P (PANCA). These results lead to suggest that ANCA auto-antibody may have a role in triggeri
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Objective(s): To assess the job satisfaction during of covid-19 among the nurses in respiratory isolation units of coronavirus disease.
Methodology: A descriptive cross-sectional design was carried out in four hospitals at isolation units of coronavirus disease from the period (21th December, 2021 to 27th January, 2022). A non-probability (convenience) sampling method consists of (300) nurse was selected convenience based on the study criteria. The tool used to measure the job satisfaction is Job satisfaction scale for clinical nursing (JSS-CN). This tool consists of two parts, the first part is for demographic information and consists of 8 items, and the second
... Show MoreThis study was conducted to identify the health status of children's nurseries in the city of Baghdad and to identify improper dietary habits practiced by these children have shown the results of this study that the same proportion of childhood diarrhea disease research and infections
Sufficient high-quality data are unavailable to describe the management approach and guideline of COVID-19 disease in pediatric and adolescent population which may be due to mild presentation in most of cases and less severe complications than older ages.
World Health Organization was concerned with the establishment of an approved guideline to manage the increasing number of COVID-19 patients worldwide aiming to prevent or lessen COVID-19 global burden.
The clinical features have a wide spectrum starting from uncomplicated mild illness, mild-moderate pneumonia, severe pneumonia, acute respiratory distress syndrome, sepsis, septic shock, and multisystem inflammatory syndrome in children.
Many important definitions
... Show MoreAdenosine deaminase (ADA) and lipid profile may be associated with some diseases. Parasitic diseases have also been reported to be associated with ADA and lipid profiles. This study aimed to evaluate ADA, lipid profile, and total protein among children infected with E.vermicularis. This research was carried out in Baghdad province from October 2021 to the end of March 2022. One hundred samples were collected from both sexes, ranging in age from (3-16) years. They all underwent examination for ADA, cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and total protein levels. Results showed no significant differences between E.vermicularis positive group and E.vermicularis negative group regarding ADA, LDL, and trig
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