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: the aim of this study was to assess the 2-year pulp survival of deep carious lesions in teeth excavated using a self-limiting protocol in a single-blind randomized controlled clinical trial. Methods: At baseline, 101 teeth with deep carious lesions in 86 patients were excavated randomly using self-limiting or control protocols. Standardized clinical examination and periapical radiographs of teeth were performed after 1- and 2-year follow-ups (REC 14/LO/0880). Results: During the 2-year period of the study, 24 teeth failed (16 and 8 at T12 and T24, respectively). Final analysis shows that 39/63 (61.9%) of teeth were deemed successful (16/33 (48.4%) and 23/30 (76.6%) in the control and experimental groups, respectively wit
... Show MoreAbstract :In this study, amygdaline in Iraqi plant seeds was extracted and isolated from their seeds matrix using reflux procedure and subsequently identified and determined by high performance liquid chromatography (HPLC) on reversed phase column of LC-18 (150mm x 4.6mm, 5?m )with actonitrile :water ( 50 : 50 ) as mobile phase at flow rate of ( 0.5 mL/min ) and detection at wavelength of 215 nm.The experimental results indicated that the linearity of calibration is in the range of 1.0-30.0 mg L-1amygdaline with the correlation coefficient of 0.9949. The limit of detection (LOD) and limit of quantitation (LOQ) for amygdaline were of 0.88 and 2.93 mg L-1 in standard pure sample. The mean recovery percent is 97.34±0.58 at 95% confidence inte
... Show MoreFibroblast growth factor-23, play an important role in atherosclerosis, endothelial dysfunction and vascular calcification. Sevelamer can improve vascular calcification, serum uric acid, low-density lipoprotein-cholesterol and Fibroblast growth factor-23. Aim of study Assessment the effect of sevelamer as phosphate binder against calcium carbonate on Fibroblast growth factor-23. Methods A prospective open-labelled study that included patients on hemodialysis. A total of 72 patients were screened, only 53 patients completed the 10 week period. Adults patients with serum phosphate as> 5.5 mg/dl were included. There were Group1: Includes 28 patients (19 males and 9 females receiving sevelamer carbonate (Renvela) tablet. Group 2: Include 25pati
... Show MoreThis study is planned to find relationship between interleukin-33 (IL-33) with its receptor interleukin-1 receptor 4 (IL-1R4), and assurance IL-33/IL-1R4 proportion as biomarker to atherosclerosisin rheumatoid arthritis (RA) Iraqi female’s patients with and without dyslipidemia. This study was attempted at Baghdad Teaching Hospital included 60 female’s patients with RA that were isolated into: 30 patients with dyslipidemia(G2), 30 patients without dyslipidemia(G3) and 30 individuals as control group (G1). Patients were experiencing treatment by methortexiene medication, analyzed by rheumatoid factor (RF) and erythrocyte sedimentation rate (ESR) tests. All patients and control groups age ranged from (30-55) years. The results show an inc
... Show MoreThe present study was designed to shed light on the molecular effects caused by acute myeloid leukemia (AML). It was also aimed to investigate ASXL1 point mutations in newly AML patients as compared to healthy control. The study comprised of 43 AML Iraqi patients and their ages ranged between 16-75 years. It included 23 females and 20 males compared with 20 healthy controls. Results revealed that the extracted DNA from 30 AML patients and amplified by PCR to obtain ASXL1 gene from exon 12 showed larger bands (479). Among forty three patients, two of them displayed point mutations of deletion and substitution, while the others were normal since no mutations were detected. The total of mutations in two mutated patients was 27 mutations, the m
... Show MoreBACKGROUND: Diffuse astrocytomas constitute the largest group of primary malignant human intracranial tumours. They are classified by the World Health Organization (WHO) into three histological malignancy grades: diffuse astrocytomas (grade II), anaplastic astrocytomas (grade III) and glioblastoma (grade IV) based on histopathological features such as cellular atypia, mitotic activity, necrosis and microvascular proliferation. Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane tyrosine kinase receptor expressed in a variety of normal and malignant cells regulating critical cellular processes. When activated, epidermal growth factor receptor (EGFR) triggers several signalling cascades leading to increased proliferatio
... Show MoreBackground: Anti-vascular endothelial growth factors commonly used intravitreally for treatment of variable retinal disease worldwide, which help to regulate the upregulation of vascular endothelial growth factors due to ischemia or/and other retinal insult.
Objective: To review all cases of intravitreal bevacizumab given in the retinal unit of the Eye Specialty Private Hospital in Iraq from December 2015 to June 2016, pointing out the common indications.
Methods: A retrospective study including all cases of intravitreal injections of bevacizumab recorded at the Eye Specialty Private Hospital from December 2015 to June 2016 were retrieved. Age, sex, laterality, diagnosis
... Show MoreIn view of the large profits made by the sex trade on the one hand, and the minor penalties imposed on the traffickers (brokers) compared with the severe penalties imposed on the drug trade and illegal weapons, on the other hand, this trade has become popular and spread in most countries of the world, and the cornerstones of this trade and A safe haven for them is hotels, especially luxury ones with international brands where their guests are rich and some may look for sex for money. Given the great physical and psychological damage to the victims, this research highlights the civil liability of hotels towards these victims in US and Iraqi law.In order not to limit the
... Show MoreThis research deals with the study of the relationship between the success factors as the independent variable and product strategies as the dependent variable , has reacted to these variables to form the frame , which is the research which centered research problem about the extent to which industrial companies the vision and knowledge of Muslim women survive and develop in the business market , which can be expressed about the extent of awareness of corporate success factors and the use of product strategies and what the relationship between the factors and strategies , while expressing the importance of research to make the focus on the product occupies a paramount importance in the industrial sector companies in relation to t
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