XmnI polymorphism: Relation to β-thalassemia phenotype and genotype in Egyptian Children

Background: β-Globin mutations with Xmn1 site might be associated with elevatedHbF expression which may in turn ameliorate the severity of β-thalassemia phenotype.Aim of the study: To investigate the frequency of 158 (C > T) XmnI polymorphism among Egyptian Children and young adults with β-thalassemia, to examine the relationship between XmnI polymorphism and β-thalassemia genotypes and phenotypes and to assess the possible relation of XmnI polymorphism and response to hydroxyurea (Hu) therapy.Patients and methods: Seventy-two β-thalassemia patients (37 females; M/F ratio 0.95) with a mean age of 7.53 ± 6.99 were included. Laboratory investigations included Complete blood count (CBC), Hb electrophoresis by high performance liquid chromatography (HPLC), β-thalassemia mutation identification by the reverse dot blot hybridization technique (RDB) and detection of XmnlGg polymorphism by RFLP.Results: The frequency of positive heterozygote XmnI gene polymorphism was 8.3%. Eightythree percent of XmnIGγ+/- patients were never transfused (p= 0.001) and had higher total hemoglobin compared to XmnIGγ-/- (p= 0.01); while mean HbF was higher among XmnIGγ+/- patients compared to the other group but the difference was marginally insignificant (p=0.06).β-Thalassemia mutation IVS II-1 showed relatively higher XmnI polymorphism frequency (50%) and followed by its frequency among 10 undefined β-thalassemia mutations which was 20%. The frequency of positive heterozygote XmnI gene polymorphism was 11.6% among the TI group vs. 3.5% among the TM group (p= 0.4). Among 20 cases who received HU; 5/14 responders vs. 1/ 6 none responder had positive heterozygote XmnI gene polymorphism (p= 1.0).Conclusions and recommendations: In conclusion, molecular determination of genetic markers in childhood will help to identify phenotypes of our patients and to avoid over or under treatment strategies. Further prospective studies concerning the genetic markers that could predict the response to hemoglobin F inducers like hydroxyurea are highly recommended

Investigation of the nanocrytalline SnO2 Synthesized by Homogeneous Precipitation

Nanocrystalline tin dioxide synthesized by the homogeneous pre cipitation method using the reaction of tin tetrachloride pentahydrate and urea solutions has been investigated. The nanocrystalline powder has been traced at different calcination temperatures (300ºC-1050ºC), and then characterized by using   Thermogravemetric analysis, differential thermal analysis and x-ray diffraction. The microstructure of the obtained nanoparticles has been examined by scanning and transmission electron microscopy. The average crystallite size, determined by x-ray diffraction, was found to be in the range of 3 –30 nm. The analysis exhibited a tetragonal phase.  Optical properties were investigated by a UV–vis absorption spectrophotometer. The calculated optical band gap lies between 4.47–3.71 eV as a result of increasing the calcination temperatures and crystallite size. Surface area and porosity of SnO2 nanoparticles are measured. Specific surface area which is related to pore volume and decreases from 155 m2/g at 100ºC to 3.3 m2/g at 1050ºC.Â

The role of intraoperative ultrasound in the assessment of hepatic deposits in intra-abdominal malignancies

Introduction/backgroundThe liver is the most common site of metastatic disease with up to 40-50% of all cancers having the potentiality for sending liver metastasis during the disease. Consequently, there has been increasing value for surgical resection of hepatic deposits of different types of cancers. The need for accurate evaluation of the extent of hepatic metastasis was established for choosing the most suitable patients for surgery and in planning the extent of hepatic resection.AimThe aim of this study was to evaluate the role of intraoperative ultrasound (IOUS) in the detection of hepatic deposits in intra-abdominal malignancies with special emphasis on its accuracy, sensitivity, and specificity.Patients and methodsThis study was carried out on 30 patients who were admitted to the Gastrointestinal Surgery Unit, Main Alexandria University Hospital, with intra-abdominal malignancies for whom elective open surgical intervention was recommended in the period from 1 September 2017 till the 31 March 2018.ResultsThis study consisted of 17 (56.7%) men and 13 (43.3%) women. Their mean age at admission was 52.77 +/- 9.12 years. Six (20%) of the included patients were found to have hepatic lesions by using IOUS including the four (13.3%) cases already detected by preoperative imaging. Two (6.67%) cases were newly discovered in the operative room by using IOUS.ConclusionThis study has proved that IOUS demonstrates superior lesion detection over the various noninvasive preoperative imaging modalities causing significant impact on change of the planned surgical strategy

Statistical analysis for the impact of smoking on the behavior and health of Qatari adolescents

The links between the use of tobacco and health risks are well known. Most of the younger smokers reside in Asia which includes Qatar, the focus country of this study. Cigarette smoking among children is rising at an alarming rate worldwide including Qatar. As youth make up a significant percentage of the population and to achieve the health objectives of the Qatar Vision 2030, it is essential to ensure the health and well-being of adolescents, as they are the future of Qatar. This study focuses on exploring the patterns of tobacco use and its impacts on the adolescents by conducting a survey in different schools across Qatar. The questionnaire was administered in five schools, selected by proportional random sampling. The responses were recorded from the sample for general questions regarding interest in physical activities, relationship with family and friends, mental satisfaction, health, academics and access to cigarettes. 2018 Walter de Gruyter GmbH, Berlin/Boston 2018.Scopu

Markers of neural degeneration and regeneration in Down syndrome patients

On the trisomy Down syndrome Critical Region (DSCR1) is located the APP gene, which accelerates amyloid peptide protein (APP) expression leading to cerebral accumulation of APP-derived amyloid-beta peptides (Ab) and age-dependent cognitive sequelae. Also DSCR1 attenuates endothelial cell proliferation and angiogenesis required for tissue repair. The aim of the present work is to determine markers of neural degeneration and regeneration in the blood of young and adolescent Down syndrome (DS) patients as well as controls. Markers of regeneration were measured in terms of circulating mononuclear cells expressing Nestin and CD34, while markers of degeneration were measured in terms of plasma Ab42 and advanced glycation end products receptors (RAGES). Results showed a significant increase in plasma Ab42 (20 ± 5.1 vs. 11.9 ± 3.4) and RAGES leucocytes mRNA relative expression (1.9 ±0.2 vs. 1.1 ±0.6) in adolescentDS patients compared to young DS. Both parameters were also significantly increased in DS compared to controls: Ab42 (15.4 ± 5.9 vs. 12. 3± 4.5); RAGES (1.4 ± 0.5 vs. 0.7± 0.2). Nestin (5.2 ± 1.4 vs. 6.3± 0.6) and CD34 (52 ± 2.5 vs. 53± 4.7) were non-significantly lower in adolescent DS patients compared to young DS, but significantly lower in DS patients compared to controls: Nestin (6.3 ± 1.5 vs. 9±4.4); CD34 (54 ± 3.4 vs. 60± 4.8). The significant decrease in the number of mononuclear cells bearing Nestin and CD34 markers accompanied by a significantincrease in Ab42 and RAGES indicate that degeneration in DS is an ongoing process, which is not counterbalanced by the regenerative mechanism