Thalassemia intermedia: An overview

β-Thalassemia is considered the most common chronic hemolytic anemia in Egypt. Patients with β-thalassemia whose anemia is not so severe as to necessitate regular transfusions are said to have thalassemia intermedia. It is characterized by a significant genetic and clinical heterogeneity. The clinical phenotype ranges between the severe, transfusion-dependent thalassemia major and the asymptomatic carrier state. Thalassemia intermedia represents up to one-fourth of β-thalassemia patients. It is essential to discuss the reasons for the remarkable heterogeneity and natural history of thalassemia intermedia so that an effective method for the control and management of thalassemia intermedia can be established. This review will outline the genetics of hemoglobin biosynthesis as well as an overview on the pathogenesis, molecular basis, hematologic and clinical features of thalassemia intermedia, in addition to management of complications affecting patients with such disorder.Keywords: Globin genes; LCR; Thalassemia modifiers; Haplotypes; Managemen

Maternal risk factors in young Egyptian mothers of Down syndrome

Introduction: We investigated the possible maternal risk factors that mayincrease the incidence of Down syndrome (DS) in young Egyptian mothers(younger than 35 years) especially methylene tetrahydrofolate reductase(MTHFR) enzyme C677T polymorphism.Subjects and Methods: The study included 200 mothers of karyotypicallyascertained non-disjunction DS attending Genetics clinic, Children’s hospital, Ain Shams University (100 mothers were < 35 years and 100 mothers ≥ 35 years). 50 mothers of none-DS children served as a control group. For all cases, history was taken laying stress on: Parental ages at conception, maternal grandparent’s ages at conception of mother, DS birth order, history of oral contraceptive use 6 months before conception, genital infection, vitamin supplementation and smoking or exposure to irradiation.Results: MTHFR C677T mutational analysis was done to twenty DS motherswith ages ≤ 35 years revealed that 35% of young mothers had C677T mutation (10% had homozygous mutation and 25% had heterozygous mutation). MTHFR C677T polymorphism was found to be a possible maternal genetic risk factor for DS although statistically non-significant.Other maternal risk factors included the use of oral contraceptive pills (OCP) 6 months before pregnancy which was significantly higher only in DSmothers ≥ 35 years. on the other hand, parental consanguinity, maternal grandparents’ ages, the presence of genital infection and birth order did not show a significant difference between young and old mothers of DS.Conclusion: MTHFR C677T could not be considered as a maternal risk factor in young Egyptian mothers of DS. The risk effect may depend on gene-environment interaction between the genotype and dietary intake in particular folic acid consumption which should be further studied on a larger scale population including other MTHFR polymorphisms and environmental factors. Other risk factors may include the use of OCP in older mothers. Parents consanguinity, paternal age and maternal grandparents’ ages were not found to be risk factors in DS in this study.Keywords: Down syndrome, risk factors, mothers, MTHFR

Oxidative Stress -a Phenotypic Hallmark of Fanconi Anemia and Down Syndrome: The Effect of Antioxidants

Background: Oxidative stress plays a major role in the pathogenesis of leukemia.prone diseases such as Fanconi anemia (FA) and Down syndrome (DS). Aim: To explore the oxidative stress state in children with DS and FA by estimating the levels of antioxidants (e.g., malondialdehyde [MDA], total antioxidant capacity, and superoxide dismutase [SOD] activity) and DNA damage, and to evaluate of the effect of antioxidant treatment on these patients.Subjects and Methods: The study included 32 children clinically diagnosed with (15 patients) and FA (17 patients) in addition to 17 controls matched for age and sex. MDA, total antioxidant capacity, SOD activity, and DNA damage were measured. Antioxidants including Vitamin A, E, and C were given to the patients according to the recommended daily allowance for 6 months. Clinical follow.up and re.evaluation were conducted for all patients. Laboratory tests including complete blood count, karyotyping, DNA  damage, and oxidative stress were re.evaluated. Statistical analysis was performed using statistical computer program Statistical Package for the Social Sciences version 14.0. Results: Children with FA and DS had elevated levels of oxidative stress and more DNA damage than controls. Oxidative stress parameters and DNA damage improved in FA and DS patients after antioxidant administration. Conclusion: Early administration of antioxidants to FA and DS patients is recommended for slowing of the disease course with symptoms   amelioration and improvement of general health.Keywords: Down syndrome, Oxidative DNA damage, Oxidative stres

Entrepreneurial capital, social values and Islamic traditions: exploring the growth of women-owned enterprises in Pakistan

Main ArticleThis study seeks to explore the variables contributing to the growth of women-owned enterprises in the Islamic Republic of Pakistan. Based on a previously established multivariate model, it uses two econometric approaches: first classifying variables into predetermined blocks; and second, using the general to specific approach. Statistical analyses and in-depth interviews confirm that women entrepreneurs’ personal resources and social capital have a significant role in their business growth. Further, it reveals that the moral support of immediate family, independent mobility and being allowed to meet with men play a decisive role in the sales and employment growth of women-owned enterprises in an Islamic country such as Pakistan

Noninvasive genetic population survey of snow leopards (Panthera uncia) in Kangchenjunga conservation area, Shey Phoksundo National Park and surrounding buffer zones of Nepal

<p>Abstract</p> <p>Background</p> <p>The endangered snow leopard is found throughout major mountain ranges of Central Asia, including the remote Himalayas. However, because of their elusive behavior, sparse distribution, and poor access to their habitat, there is a lack of reliable information on their population status and demography, particularly in Nepal. Therefore, we utilized noninvasive genetic techniques to conduct a preliminary snow leopard survey in two protected areas of Nepal.</p> <p>Results</p> <p>A total of 71 putative snow leopard scats were collected and analyzed from two different areas; Shey Phoksundo National Park (SPNP) in the west and Kangchanjunga Conservation Area (KCA) in the east. Nineteen (27%) scats were genetically identified as snow leopards, and 10 (53%) of these were successfully genotyped at 6 microsatellite loci. Two samples showed identical genotype profiles indicating a total of 9 individual snow leopards. Four individual snow leopards were identified in SPNP (1 male and 3 females) and five (2 males and 3 females) in KCA.</p> <p>Conclusions</p> <p>We were able to confirm the occurrence of snow leopards in both study areas and determine the minimum number present. This information can be used to design more in-depth population surveys that will enable estimation of snow leopard population abundance at these sites.</p

The Effect of Transposable Element Insertions on Gene Expression Evolution in Rodents

Background:Many genomes contain a substantial number of transposable elements (TEs), a few of which are known to be involved in regulating gene expression. However, recent observations suggest that TEs may have played a very important role in the evolution of gene expression because many conserved non-genic sequences, some of which are know to be involved in gene regulation, resemble TEs. Results:Here we investigate whether new TE insertions affect gene expression profiles by testing whether gene expression divergence between mouse and rat is correlated to the numbers of new transposable elements inserted near genes. We show that expression divergence is significantly correlated to the number of new LTR and SINE elements, but not to the numbers of LINEs. We also show that expression divergence is not significantly correlated to the numbers of ancestral TEs in most cases, which suggests that the correlations between expression divergence and the numbers of new TEs are causal in nature. We quantify the effect and estimate that TE insertion has accounted for ~20% (95% confidence interval: 12% to 26%) of all expression profile divergence in rodents. Conclusions:We conclude that TE insertions may have had a major impact on the evolution of gene expression levels in rodents

Quantum corrections to Schwarzschild black hole

Using effective field theory techniques, we compute quantum corrections to spherically symmetric solutions of Einstein’s gravity and focus in particular on the Schwarzschild black hole. Quantum modifications are covariantly encoded in a non-local effective action. We work to quadratic order in curvatures simultaneously taking local and non-local corrections into account. Looking for solutions perturbatively close to that of classical general relativity, we find that an eternal Schwarzschild black hole remains a solution and receives no quantum corrections up to this order in the curvature expansion. In contrast, the field of a massive star receives corrections which are fully determined by the effective field theory

Frequencies of BCR-ABL1 fusion transcripts among Sudanese chronic myeloid leukaemia patients

The incidence of one or other rearrangement in chronic myeloid leukemia (CML) patients varies in different reported series. In this study we report the frequencies of BCR-ABL1 fusion transcript variants studied in 43 CML patients from Sudan. The study includes 46 Sudanese patients, three of which negative for the BCR-ABL1 fusion transcript. More than half of 43 positive patients showed b2a2 fusion transcript (53.5%), while (41.9%) showed b3a2 transcript and the remaining (4.6%) coexpression of b3a2/ b2a2 and b3a2/b2a2/e19a2. We detected neither coexpression of p210/p190 nor e1a2 alone. Male patients showed a tendency to express b2a2, while female tende to express b3a2 (p = 0.017). Moreover, a single nucleotide polymorphism was detected in BCR exon 13 in one out of four patients and this patient showed only b2a2 expression. In conclusion, we observed a significant correlation between sex and type of BCR-ABL1 transcript, an observation that deserves further investigation

Resveratrol-Based Nanoformulations as an Emerging Therapeutic Strategy for Cancer

Resveratrol is a polyphenolic stilbene derivative widely present in grapes and red wine. Broadly known for its antioxidant effects, numerous studies have also indicated that it exerts anti-inflammatory and antiaging abilities and a great potential in cancer therapy. Regrettably, the oral administration of resveratrol has pharmacokinetic and physicochemical limitations such as hampering its effects so that effective administration methods are demanding to ensure its efficiency. Thus, the present review explores the published data on the application of resveratrol nanoformulations in cancer therapy, with the use of different types of nanodelivery systems. Mechanisms of action with a potential use in cancer therapy, negative effects, and the influence of resveratrol nanoformulations in different types of cancer are also highlighted. Finally, the toxicological features of nanoresveratrol are also discussed.CR would like to acknowledge the UID/EQU/00511/2020 Project—Laboratory of Process Engineering, Environment, Biotechnology and Energy (LEPABE), financed by national funds through FCT/MCTES (PIDDAC). NC-M acknowledges the Portuguese Foundation for Science and Technology under the Horizon 2020 Program (PTDC/PSI-GER/28076/2017). Some of the components of the illustrations are taken from freepik and flaticon

Process evaluation of a community-based program for prevention and control of non-communicable disease in a developing country: The Isfahan Healthy Heart Program, Iran

<p>Abstract</p> <p>Background</p> <p>Cardiovascular diseases are the most common cause of mortality in Iran. A six-year, comprehensive, integrated community-based demonstration study entitled Isfahan Healthy Heart Program (IHHP) conducted in Iran, and it started in 2000. Evaluation and monitoring are integrated parts of this quasi-experimental trial, and consists of process, as well as short and long-term impact evaluations. This paper presents the design of the "process evaluation" for IHHP, and the results pertaining to some interventional strategies that were implemented in workplaces</p> <p>Methods</p> <p>The process evaluation addresses the internal validity of IHHP by ascertaining the degree to which the program was implemented as intended. The IHHP process evaluation is a triangulated study conducted for all interventions at their respective venues. All interventional activities are monitored to determine why and how some are successful and sustainable, to identify mechanisms as well as barriers and facilitators of implementation.</p> <p>Results</p> <p>The results suggest that factory workers and managers are satisfied with the interventions. In the current study, success was mainly shaped by the organizational readiness and timing of the implementation. Integrating most of activities of the project to the existing ongoing activities of public health officers in worksites is suggested to be the most effective means of implementation of the health promoting activities in workplaces.</p> <p>Conclusion</p> <p>The results of our experience may help other developing countries to plan for similar interventions.</p