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.
AbstractOBJECTIVES: To evaluate the long-term remission efficacy and safety of isotretinoin in the treatment of Behcet's disease (BD). PATIENTS and METHODS: This single-blind, controlled therapeutic study was conducted in the Department of Dermatology and Venereology at Baghdad Teaching Hospital from February 2011 to January 2012. Thirty patients with BD were included in this work. Each patient received isotretinoin 20 mg orally once daily for 3 months. They were assessed at week 2 and then monthly depending on the Clinical Manifestation Index (CMI) and to record any side effects. At week 12, isotretinoin was stopped and patients were given placebo therapy in a form of glucose capsules for another 3 months. RESULTS: Thirty patients were tre
... Show MoreObjectives: The study aims to assess and evaluate the caregivers knowledge about management of the children with growth hormone deficiency and to find out the relationship between caregivers kowledge and caregivers age, gender, number of individual in house hold, Date of treatment started ,Caregivers level education and economic status Methodology: Quazi expermental study design was carried out at (Child's Central Teaching Hospital, Medical City of Al Imamian Al Khadhmain Teaching Hospital, and National Centre for Treatment and Research of Diabetes,Specialized Center for Endocrine Diseases and Diabetes, and Department of Medical City Children Welfare Teaching Hospital started from
... Show MoreBackground: Fruits and their by-products are the primary sources of bioactive chemicals in plants. Because of its phytochemical richness, Annona squamosa fruits have gained the alertness of people willing in health-promoting diets. The purpose of this in vitro study was to evaluate the cytocompatibility effect of ethanolic crude extract of Annona squamosa pulp against a human normal cell line as a mouthwash for children. Material and method: The ethanolic extract of Annona squamosa pulp was extracted using the ultrasonic method and then lyophilized to make it powder. The MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide) test was performed to investigate the cytotoxic activity of the pulp extract on a human normal cell l
... Show MoreThe present work aimed to investigate the neuraminidase (nan1) gene expression in 32 different clinical isolates of Pseudomonas aeruginosa to explore the role of the enzyme in different types of infection and might give a better understanding of host cell-pathogens interaction. In addition, the effect of monosaccharide D-mannose on neuraminidase gene expression in eight isolates was studied by utilizing a reverse transcription-quantitative polymerase chain reaction (RT-qPCR). The results demonstrated that the highest expression of nan1 gene was in otitis samples (208,913.81) which were significantly higher than that from other infections (P < 0.01). While, the concentrations of gene copies obtained from urin
... Show Moreاستهدف البحث تشخيص وتحليل الاسباب التي تجعل المرأة العراقية أكثر تأثراً من الرجل بعوامل التغيرات المناخية، فضلاً عن زيادة الوعي بقضية المرأة في هذا المجال، لأن موضوع دمجها في صياغة السياسات والاستراتيجيات المتعلقة بالتغير المناخي أصبح قضية عالمية، ويحتل مرتبة متقدمة في مؤشرات تحقيق أهداف التنمية المستدامة، وأستخدمت الباحثة المنهج الوصفي والتحليلي والاحصائي في تحليل محاور البحث، وتوصل البحث الى إستن
... Show MoreThe value of culture in its interaction is composed and formulated according to compatible and incompatible roles which view the identity that adopts that formation although it is in most cases perceived and declared. The attraction and difference characteristic might be implied within subjective and procedural meaning through which it seeks to make the identity mobile subject to identity- shaping cultural causes implying the conflicts that take the shape and culture of real time. As for the end of the twentieth century and afterward where the concepts of hegemony, globalization, cultural invasion, colonial and imperial culture, all these causes made the cultural identity concept appear on the surface of the critical studies as a
... Show MoreThere are numerous bidirectional interactions between the reproductive system and the liver. Sex steroids regulate metabolic health through signaling effects in both peripheral and central metabolic tissues, including adipose tissue, liver, skeletal muscle, and brain, and have a role in the etiology of structural and functional liver diseases. Blood samples were obtained from 90 healthy women (control group) and 90 women that have hormonal changes (patients’ group). The levels of reproductive hormones (follicle stimulation hormone/FSH, luteinizing hormone/LH, estradiol/E2, progesterone/P4) were measured by using fully automated Cobas E411, whereas those of liver enzymes (alanine transaminase /ALT, aspartate aminotransferase/AST, a
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