Phylogenetic and molecular evolutionary analyses of Ty1-copia group retrotransposons in cultivated Egyptian cotton, Gossypium barbadense L.

The Ty1-copia group retrotransposons have been characterized in cultivated Egyptian cotton, G.barbadense L., using degenerate PCR primers for their reverse transcriptase (RT) domains. Comparative nucleotide and amino acid sequences analyses showed that G. barbadense Ty1-copia RT sequences are heterogeneous and this heterogeneity is resolved into 11 distinct families. The high ratio of synonymous to nonsynonymous changes indicates that there is a strong selection for the RT domain of these families. Phylogenetic analysis revealed that two cultivated G. barbadense RT families are closely related to Ty1-copia group retrotransposons present in other plant species. In other words, these families mirror their own phylogenies rather than that of their host cultivars. On the other hand, the remaining G. barbadense RT families are closely related to their respective Gossypium species. These data show that Ty1-copia group retrotransposons tend to span species boundaries, suggestingthat they existed early in plant evolution, and were diverged into  heterogeneous sequences prior to modern plant species divergence

Full Length Research Paper LTR-retrotransposons-based molecular markers in cultivated Egyptian cottons G. barbadense L.

Long terminal repeat (LTR)-retrotransposons are mobile genetic elements that are ubiquitous in plants and constitute a major portion of their nuclear genomes. LTR-retrotransposons possess unique properties that make them appropriate for investigating relationships between closely related species and populations. The aim of the current study was to employ Ty1-copia group retrotransposons as molecular markers in cultivated Egyptian cottons, G. barbadense L. Restriction site analysis of PCRamplified Ty1-copia RT domain promoted the construction of a restriction map for each Egyptian cultivar. These maps display distinctive patterns of restriction site variation. Furthermore, these patterns are capable of differentiating even between cultivars that appear to have diverged only in the past 50 years. These results demonstrate that retrotransposon-based molecular markers are particularly valuable tools for plant molecular phylogenetic and population genetic studie

Transforming the construction sector: an institutional complexity perspective

Purpose Government initiatives to improve construction have increasingly become more focused on introducing a repertoire of technologies to transform the sector. In the literature on construction industry transformation through policy-backed initiatives, how firms will respond to the demands to adopt and use innovative technologies and approaches is taken for granted, and there is scarcely any attention given to the institutional implications of transformation agenda. The purpose of this paper is to discuss these gaps and offer directions for future research. Design/methodology/approach Following a synthesis of literature on the UK’s industry transformation agenda, the authors use the concepts of institutional logics, arrangements, complexity and strategic responses to suggest seven research questions that are at the nexus of policy-backed transformation and institutional theory. Findings In this paper, the authors argue that increasing demands for the adoption and use of digital technologies, platforms, manufacturing approaches and other “industry-4.0”-related technologies will reconfigure existing logics and arrangements in the construction industry, creating a problem of institutional complexity for general contracting firms in particular. Originality/value The questions are relevant for our understanding of the nature of institutional complexities, change, strategic firm responses, field-level dynamics and implications for the construction industry in relation to the transformation agenda. This paper is positioned to spur future research towards exploring the consequences of industry transformation through the lens of institutional theory. This research forms part of the Centre for Digital Built Britain’s (CDBB) work at the University of Cambridge within the Construction Innovation Hub (CIH). The Construction Innovation Hub is funded by UK Research and Innovation through the Industrial Strategy Fund

Profile of Egyptian Patients with Mucopolysaccharidosis

Background: Mucopolysaccharidoses (MPS) are chronic progressive lysosomal disorders (Six distinct types) which are inherited as autosomal recessive except MPS II which is inherited as X-linked recessive disorder Patients and Methods: This study is designed to investigate a group of Egyptian patients with MPS biochemically using screening test by electrophoretic separation of glycosaminoglycans and enzymatic assay in order to establish the diagnosis of the disorder and its subtypes, to prepare patients for enzyme replacement therapy. Also this will help in proper genetic counseling and prenatal diagnosis. Establishing a reliable rapid screening test for MPS is another aim of the study. The present study included 20 index cases suspected clinically as mucopolysaccardioses at the Medical Genetics Center, Ain Shams University (ASUMGC).They were subjected to full history taking, thorough clinical examination, family pedigree construction, skeletal survey, abdominal ultrasound and echocardiography, quatitative assay of glycosaminoglycans (GAGs) by diemethylmethlene blue (DMB) is done. Results: The level of urinary GAGs by two dimentional electrophoresis (DMB) test was high in all patients tested. After that the patients were subjected to 2-DEP to determine the pattern of GAGs for probable type of MPS. 11 cases (55%) showed big dermatan sulfate spot (Type I, II or VI). Seven cases (35%) showed hepran sulfate spot (Type III), 2 cases (10%) showed keratan sulfate spot (Type IV). Finally patients were subjected to enzyme analysis specific for each type of MPS to confirm diagnosis. Reaching a specific diagnosis is of importance for genetic counseling and prenatal diognosis which is possible for all types of MPS. Conclusion: Prenatal diagnosis was done by 2-DEP of the amniotic fluid for four mothers of affected patients of MPS. One fetus was proved to be affected with MPS III. Another fetus was affected with MPSII. The others fetuses were normal. Keywords: Mucopolysaccharidosis, Egypt. Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 11-2

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Abu Dhabi District, United Arab Emirates

Purpose: To investigate the frequency of glucose-6-phosphate dehydrogenase (G6PD) variants and their associated enzyme deficiencies among different age groups of individuals in Abu Dhabi, United Arab Emirates (UAE).Methods: A total of 15,995 patients (6302 UAE nationals and 9693 non-UAE nationals) who presented at Mafraq Hospital, Abu Dhabi, UAE between January 2006 and January 2009 were screened for G6PD deficiency using fluorescent spot test. Molecular analysis including polymerase chain reaction– restriction fragment length polymorphism (PCR-RFLP), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing were utilized to identify common mutations in individuals with G6PD deficiency.Results: The prevalence of G6PD deficiency among UAE nationals was 7.4% and non-UAE nationals 3.8%. UAE males showed prevalence of 11.6% while for UAE females it was 3.6%. The prevalence of G6PD deficiency among non-UAE nationals was 5 and 1.7% for males and females, respectively. The Mediterranean mutation, 563C→T, was predominant in non-UAE nationals.Conclusion: G6PD Mediterranean mutation is the most prevalent mutation underlying G6PD deficiency followed by Aures mutations in both UAE nationals and non-UAE nationals. On the other hand, Africa Awas found to be more in non-UAE compared with UAE nationals.Keywords: Glucose-6-Phosphate Dehydrogenase deficiency, Mutation, Abu Dhabi, Polymerase chain reaction–restriction, Fragment length polymorphis

Identification of mutations in the PYRIN-containing NLR genes (NLRP) in head and neck squamous cell carcinoma

Head and Neck Squamous Cell Carcinoma (HNSCC) encompasses malignancies that arise in the mucosa of the upper aerodigestive tract. Recent high throughput DNA sequencing revealed HNSCC genes mutations that contribute to several cancer cell characteristics, including dysregulation of cell proliferation and death, intracellular proinflammatory signaling, and autophagy. The PYRIN-domain containing NLR (Nucleotide-binding domain, Leucine rich Repeats - containing) proteins have recently emerged as pivotal modulators of cell death, autophagy, inflammation, and metabolism. Their close physiologic association with cancer development prompted us to determine whether mutations within the NLRP (PYRIN-containing NLR ) gene family were associated with HNSCC genome instability and their clinicopathologic correlations. Catastrophic mutational events underlie cancer cell genome instability and mark a point-of-no-return in cancer cell development and generation of heterogeneity. The mutation profiles of 62 patients with primary conventional type HNSCC excluding other histologic variants were analyzed. Associations were tested using Fisher's Exact test or Mann-Whitney U test. Mutations in NLRP were associated with elevated genome instability as characterized by higher mutation rates. Clinically, NLRP mutations were more frequently found in HNSCC arising in the floor of mouth (50.0%) in comparison with HNSCC at other head and neck locations (14.8%). These mutations were clustered at the leucine rich repeats region of NLRP proteins, and affected NLRP genes were mostly localized at chromosomes 11p15.4 and 19q13.42-19q13.43. Twenty novel NLRP mutations were identified in HNSCC, and mutations in this group of genes were correlated with increased cancer cell genome mutation rates, and such features could be a potential molecular biomarker of HNSCC genome instability. © 2014 Lei et al

Short Co-occurring Polypeptide Regions Can Predict Global Protein Interaction Maps

A goal of the post-genomics era has been to elucidate a detailed global map of protein-protein interactions (PPIs) within a cell. Here, we show that the presence of co-occurring short polypeptide sequences between interacting protein partners appears to be conserved across different organisms. We present an algorithm to automatically generate PPI prediction method parameters for various organisms and illustrate that global PPIs can be predicted from previously reported PPIs within the same or a different organism using protein primary sequences. The PPI prediction code is further accelerated through the use of parallel multi-core programming, which improves its usability for large scale or proteome-wide PPI prediction. We predict and analyze hundreds of novel human PPIs, experimentally confirm protein functions and importantly predict the first genome-wide PPI maps for S. pombe (∼9,000 PPIs) and C. elegans (∼37,500 PPIs)

An unusual presentation of anetoderma: a case report

BACKGROUND: Anetoderma is a benign condition with focal loss of dermal elastic tissue resulting in localized areas of flaccid or herniated saclike skin. Currently, anetoderma is classified as either primary (idiopathic), or secondary anetoderma (which is associated with a variety of skin conditions, penicillamine use, or neonatal prematurity). Lesions appear on the upper arms, trunk, and thighs. CASE PRESENTATION: We report a 14-year-old boy, which was noticed to have had multiple, white, non-pruritic areas on the acral sites of upper and lower extremities for two years. In physical examination, the patient had normal mental development. Skin lesions consisted of scattered, white to skin-colored papules, less than 1 cm in diameter, and with central protrusion, with distribution on dorsal part of the index finger, forearms, distal portion of thighs and calves. Lesions were detected neither on the trunk nor the proximal areas of extremities. There are no sensory changes associated with the lesions. Otherwise, his general health was good. He did not have any medication consumption history. Family history was negative. Laboratory examinations were within normal limits. Skin biopsy from one of his lesions was done, that confirmed the diagnosis of anetoderma. CONCLUSIONS: In summary, we report a case of anetoderma on unusual sites of the skin. We could not find similar reports of anetoderma developing on distal extremities without involvement of the upper trunk and proximal arms, in the medical literature

Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study

<p>Abstract</p> <p>Background</p> <p>Cyclic vomiting syndrome (CVS), which is defined by recurrent stereotypical episodes of nausea and vomiting, is a relatively-common disabling condition that is associated with migraine headache and mitochondrial dysfunction. Co-enzyme Q10 (Co-Q) is a nutritional supplement that has demonstrated efficacy in pediatric and adult migraine. It is increasingly used in CVS despite the complete lack of studies to demonstrate its value in treatment</p> <p>Methods</p> <p>Using an Internet-based survey filled out by subjects with CVS or their parents, the efficacy, tolerability and subject satisfaction in CVS prophylaxis were queried. Subjects taking Co-Q (22 subjects) were compared against those taking amitriptyline (162 subjects), which is the general standard-of-care.</p> <p>Results</p> <p>Subjects/parents reported similar levels of efficacy for a variety of episode parameters (frequency, duration, number of emesis, nausea severity). There was a 50% reduction in at least one of those four parameters in 72% of subjects treated with amitriptyline and 68% of subjects treated Co-Q. However, while no side effects were reported on Co-Q, 50% of subjects on amitriptyline reported side effects (P = 5 × 10^-7), resulting in 21% discontinuing treatment (P = 0.007). Subjects/parents considered the benefits to outweigh the risks of treatment in 47% of cases on amitriptyline and 77% of cases on Co-Q (P = 0.008).</p> <p>Conclusion</p> <p>Our data suggest that the natural food supplement Co-Q is potentially efficacious and tolerable in the treatment of CVS, and should be considered as an option in CVS prophylaxis. Our data would likely be helpful in the design of a double-blind clinical trial.</p

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015

SummaryBackground The Global Burden of Diseases, Injuries, and Risk Factors Study 2015 provides an up-to-date synthesis of the evidence for risk factor exposure and the attributable burden of disease. By providing national and subnational assessments spanning the past 25 years, this study can inform debates on the importance of addressing risks in context. Methods We used the comparative risk assessment framework developed for previous iterations of the Global Burden of Disease Study to estimate attributable deaths, disability-adjusted life-years (DALYs), and trends in exposure by age group, sex, year, and geography for 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks from 1990 to 2015. This study included 388 risk-outcome pairs that met World Cancer Research Fund-defined criteria for convincing or probable evidence. We extracted relative risk and exposure estimates from randomised controlled trials, cohorts, pooled cohorts, household surveys, census data, satellite data, and other sources. We used statistical models to pool data, adjust for bias, and incorporate covariates. We developed a metric that allows comparisons of exposure across risk factors—the summary exposure value. Using the counterfactual scenario of theoretical minimum risk level, we estimated the portion of deaths and DALYs that could be attributed to a given risk. We decomposed trends in attributable burden into contributions from population growth, population age structure, risk exposure, and risk-deleted cause-specific DALY rates. We characterised risk exposure in relation to a Socio-demographic Index (SDI). Findings Between 1990 and 2015, global exposure to unsafe sanitation, household air pollution, childhood underweight, childhood stunting, and smoking each decreased by more than 25%. Global exposure for several occupational risks, high body-mass index (BMI), and drug use increased by more than 25% over the same period. All risks jointly evaluated in 2015 accounted for 57·8% (95% CI 56·6–58·8) of global deaths and 41·2% (39·8–42·8) of DALYs. In 2015, the ten largest contributors to global DALYs among Level 3 risks were high systolic blood pressure (211·8 million [192·7 million to 231·1 million] global DALYs), smoking (148·6 million [134·2 million to 163·1 million]), high fasting plasma glucose (143·1 million [125·1 million to 163·5 million]), high BMI (120·1 million [83·8 million to 158·4 million]), childhood undernutrition (113·3 million [103·9 million to 123·4 million]), ambient particulate matter (103·1 million [90·8 million to 115·1 million]), high total cholesterol (88·7 million [74·6 million to 105·7 million]), household air pollution (85·6 million [66·7 million to 106·1 million]), alcohol use (85·0 million [77·2 million to 93·0 million]), and diets high in sodium (83·0 million [49·3 million to 127·5 million]). From 1990 to 2015, attributable DALYs declined for micronutrient deficiencies, childhood undernutrition, unsafe sanitation and water, and household air pollution; reductions in risk-deleted DALY rates rather than reductions in exposure drove these declines. Rising exposure contributed to notable increases in attributable DALYs from high BMI, high fasting plasma glucose, occupational carcinogens, and drug use. Environmental risks and childhood undernutrition declined steadily with SDI; low physical activity, high BMI, and high fasting plasma glucose increased with SDI. In 119 countries, metabolic risks, such as high BMI and fasting plasma glucose, contributed the most attributable DALYs in 2015. Regionally, smoking still ranked among the leading five risk factors for attributable DALYs in 109 countries; childhood underweight and unsafe sex remained primary drivers of early death and disability in much of sub-Saharan Africa. Interpretation Declines in some key environmental risks have contributed to declines in critical infectious diseases. Some risks appear to be invariant to SDI. Increasing risks, including high BMI, high fasting plasma glucose, drug use, and some occupational exposures, contribute to rising burden from some conditions, but also provide opportunities for intervention. Some highly preventable risks, such as smoking, remain major causes of attributable DALYs, even as exposure is declining. Public policy makers need to pay attention to the risks that are increasingly major contributors to global burden. Funding Bill & Melinda Gates Foundation