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.
Cybercrime 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
In this work, oral lesions belong to 17 patients, 7 males and 10 females. Their ages range between 15 and 45 years. Follow up was conducted after one day, 7 days, 14 days, one month, and finally 3 months postoperatively. The study lasted for 1.5 year. Surgical diode laser with wavelength of 810 ± 20 nm, with two power levels of 10 and 15 W were used in contact and in non-contact mode via optical fiber. The postoperative outcome revealed; greater haemostatic capability, dry, sealed wound and noticeable lack in pain sensation
Four 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.
Background Inflammatory bowel disease (IBD) is a lifestyle idiopathic, chronic, and inflammatory intestinal disorders that required long-term medications and care.
Aim of the study Assess the level of adiponectin in IBDU and its relation with different parameters like lipid profile and Body Mass Index (BMI).
Type of the study A case-controlled study.
Patients and methods The total number of study groups was sixty individuals, forty of them were patients with inflammatory bowel disease unclassified and the rest were control healthy subjects. Serums were examined for lipid profile (cholesterol, triglycer
Irisin is a myokine that controls energy metabolism by making adipose tissue brown. The present goal in doing this research was to determine how irisin concentration relates to other biochemical markers of disease. Hemodialysis (HD) for chronic kidney failure. The study included 30 individuals with end-stage renal disease on HD and 30 healthy subjects as the control group. The ages of all patients and the control group ranged from (25 to 60) years. The excluded criteria included patients with viral hepatitis and diabetes. Serum irisin concentration and the level of fasting serum glucose (FSG), urea, creatinine (Cr), total protein (TP), albumin (Alb), albumin to creatinine ratio (ACR), total cholesterol (TC), alanine aminotransferase (ALT),
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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 MoreThe 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 MoreThe 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 ....