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 : Gastroesophageal reflux disease (GERD) is one of chronic gastrointestinal diseases in which patient may be asymptomatic or was complained from heartburn and regurgitation or pulmonary symptoms. Aim of the study : Examine the serum level of sHLA-G in GERD patients and can be used as a biomarker for early detection of GERD disease. Materials and methods : The design of the study was a case- control prospective enrolled forty patients consulted Gastroenterology Unit- Al-Kindy Teaching Hospital, were diagnosed as GERD by their physician, and compared to second forty control healthy group form January-2023 to May-2024. Serum used for quantitative assessment of soluble HLA-G (sHLA-G) using a sandwich enzyme-linked immunosorbent a
... Show MoreCeliac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chr
... Show MoreCeliac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p<0.01). The ALT enzyme was partial purified from sera women with celiac disease by dialysis, gel filtration using Sephadex G- 50 and ion exchange chromatography using DEAE- cell
... Show MoreBackground: Hand, foot, and mouth disease is viral disease caused commonly by coxsackie virus A16 virus. It is a mild disease and children usually recover with no specific treatment within 7 to 10 days. Rarely, this illness may be associated with aseptic meningitis were patient may need hospitalization.
Objective: To determine significance of clinical features of hand, foot and mouth disease.
Methods: A cross sectional study of cases with clinical features of hand, foot and mouth disease visiting the dermatological consultation unit of Al Kindy teaching hospital. Sampling was for Zyona and Edressi Quarter patients over the period of 1st December 2017
... Show MoreThe Electric Discharge (EDM) method is a novel thermoelectric manufacturing technique in which materials are removed by a controlled spark erosion process between two electrodes immersed in a dielectric medium. Because of the difficulties of EDM, determining the optimum cutting parameters to improve cutting performance is extremely tough. As a result, optimizing operating parameters is a critical processing step, particularly for non-traditional machining process like EDM. Adequate selection of processing parameters for the EDM process does not provide ideal conditions, due to the unpredictable processing time required for a given function. Models of Multiple Regression and Genetic Algorithm are considered as effective methods for determ
... Show MoreCybercrime and risks to children between the problems and solutions( An analytical study in the light of international, Arab and national statistics).
Lies the problem of the study to identify a new type of crime is different from the same traditional character of the crimes or what was customary since human creation up to the information revolution and we enter the era of globalization, which is also called (cyber crime) and their negative impact on all segments of society, especially children, as they the day of the most important social security threats, for all local and international communities alike , and those risks require collective action to various sectors and segments of society ,especially the educated classes in order t
Objective: To determine the ability of uVDBP to discern SRNS from steroid-sensitive nephrotic syndrome (SSNS) in Iraqi children. Materials and Methods: This cross-sectional study enrolled children with SRNS (n=31) and SSNS (n=32) from the pediatric nephrology clinic of Babylon Hospital for Maternity and Pediatrics over three months. Patients' characteristics in terms of demographics, clinical data, and urinary investigations were collected. Quantitative analysis of uVDBP levels was undertaken via a commercially available ELISA kit. Results: The median uVDBP values were significantly higher (p-value<0.001) in the SRNS group (median=10.26, IQR=5.91 μg/mL) than in the SSNS group (median=0.953, IQR=4.12 μg/mL). A negative correlati
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