240 research outputs found
Birth Outcomes Associated With Heavy Metal Exposures In The Surroundings Of A Former Chemical Plant In Târnăveni, Romania
Heavy metal exposures have long been a public health concern, research on this field may promote policies and regulations to restrict or limit certain industrial practices. This study aims to evaluate potential associations between toxic heavy metal exposures via contaminated environmental media and the frequency of the birth defects in the designated area: Tarnaveni, Romania; historically contaminated by a former chemical plant. In 2018, a pilot investigation conducted on the site demonstrated that chromium (Cr), lead (Pb), and manganese (Mn) are common heavy metal contaminants found. Soil concentrations for all three metals exceeded normal background levels according to Romanian Environmental Law. This study highlights a mixed approach in terms of using both soil (environmental) and blood (biofluid) samples to identify exposures, stratifying the results into individual effects of different metals, and integrating the effects from all exposures. Data from 30 pregnant women in the area were collected and heavy metal concentrations were measured (Cr, Pb, Mn in soil and blood; in addition to Arsenic and Cadmium in blood) and correlated these exposures levels to birth outcomes. The estimated exposure intakes were calculated for the population using a probabilistic method. The end-point specific hazard quotients (HQs) and hazard index (HI) were calculated to evaluate the non-carcinogenic health risk. A spatial analysis was performed to investigate the relationship of metal concentration and cases. By assessing the population needs and communities’ health, it is hoped to raise awareness and potentially promote further studies in this subject
The size of processing unit of writing Chinese characters in normal primary students
Includes bibliographical references (leaves 26-28).Also available in print.Thesis (B.Sc)--University of Hong Kong, 2008.A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, June 30, 2008.published_or_final_versionSpeech and Hearing SciencesBachelorBachelor of Science in Speech and Hearing Science
An investigation of the effects of age-of-acquisition on picture naming and reading aloud in a Cantonese-speaking aphasic speaker with anomia and dyslexia
Thesis (B.Sc)--University of Hong Kong, 2008.A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, June 30, 2008.Includes bibliographical references (p. 29-31).Also available in print.published_or_final_versionSpeech and Hearing SciencesBachelorBachelor of Science in Speech and Hearing Science
Grassmannian categories of infinite rank
We construct Grassmannian categories of infinite rank, providing an infinite
analogue of the Grassmannian cluster categories introduced by Jensen, King, and
Su. Each Grassmannian category of infinite rank is given as the category of
graded maximal Cohen-Macaulay modules over a certain hypersurface singularity.
We show that generically free modules of rank in a Grassmannian category of
infinite rank are in bijection with the Pl\"ucker coordinates in an appropriate
Grassmannian cluster algebra of infinite rank. In particular, we show that this
bijection is structure preserving, as it relates rigidity in the category to
compatibility of Pl\"ucker coordinates. Along the way, we develop a
combinatorial formula to compute the dimension of the -spaces
between any two generically free modules of rank in the Grassmannian
category of infinite rank
Looking back to look forward: setting future research agenda for international business in textiles and clothing industry
Since its development by Tinbergen (1962), the gravity model of international trade has widely been applied to analyse the effect of various factors on trade relationships between countries. Past studies on trade gravity vary not only in the mix of model variables but also in how they have come into the analysis. This study reviews existing literature on bilateral trade with an aim to identify influential predictors such as changes of trade policy and national development strategy and highlight important yet understudied factors such as transport and logistics infrastructure, and sustainable development. To demonstrate the needs to examine these critical factors across industry sectors, the study presents the case of textiles and clothing (T&C) production and trade between China and its trading partners as an illustration. Through the literature review, it shows how the gravity model can be applied to address current issues in international trade arena such as the potential trade war between the US and China, China’s Belt and Road Initiative (BRI), and other important factors shaping global T&C trade. This study offers future research directions for analysis of global trade in the T&C industry and contributes to the wider literature of international business and trade
Developing a Protocol for Ensemble and Vibrational Probe-Containing Molecular Dynamics Simulations of the Nipah Ntail-XD Complex
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Bermuda 2.0: Reflections from Santa Cruz
In February 1996, the genome community met in Bermuda to formulate principles for circulating genomic data. Although it is now 20 years since the Bermuda Principles were formulated, they continue to play a central role in shaping genomic and data-sharing practices. However, since 1996, “openness” has become an increasingly complex issue. This commentary seeks to articulate three core challenges data-sharing faces today
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Background: RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq enables the identification of aberrant splicing and aberrant gene expression, improving the interpretation of variants of unknown significance (VUSs), and provides the opportunity to scan the transcriptome for aberrant splicing and expression in relevant genes that may be the cause of a patient’s phenotype. This work aims to investigate the feasibility of generating new diagnostic candidates in patients without a previously reported VUS using an RNA-seq-centric approach. Methods: We systematically assessed the transcriptomic profiles of 86 patients with suspected Mendelian disorders, 38 of whom had no candidate sequence variant, using RNA from blood samples. Each VUS was visually inspected to search for splicing abnormalities. Once aberrant splicing was identified in cases with VUS, multiple open-source alternative splicing tools were used to investigate if they would identify what was observed in IGV. Expression outliers were detected using OUTRIDER. Diagnoses in cases without a VUS were explored using two separate strategies. Results: RNA-seq allowed us to assess 71% of VUSs, detecting aberrant splicing in 14/48 patients with a VUS. We identified four new diagnoses by detecting novel aberrant splicing events in patients with no candidate sequence variants from prior DNA testing (n = 32) or where the candidate VUS did not affect splicing (n = 23). An additional diagnosis was made through the detection of skewed X-inactivation. Conclusion: This work demonstrates the utility of an RNA-centric approach in identifying novel diagnoses in patients without candidate VUSs. It underscores the utility of blood-based RNA analysis in improving diagnostic yields and highlights optimal approaches for such analyses
Diaryl hydroxylamines as pan or dual inhibitors of indoleamine 2,3-dioxygenase-1, indoleamine 2,3-dioxygenase-2 and tryptophan dioxygenase
Tryptophan (Trp) catabolizing enzymes play an important and complex role in the development of cancer. Significant evidence implicates them in a range of inflammatory and immunosuppressive activities. Whereas inhibitors of indoleamine 2,3-dioxygenase-1 (IDO1) have been reported and analyzed in the clinic, fewer inhibitors have been described for tryptophan dioxygenase (TDO) and indoleamine 2,3-dioxygenase-2 (IDO2) which also have been implicated more recently in cancer, inflammation and immune control. Consequently the development of dual or pan inhibitors of these Trp catabolizing enzymes may represent a therapeutically important area of research. This is the first report to describe the development of dual and pan inhibitors of IDO1, TDO and IDO2
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
Purpose: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories.
Methods: Two hundred fifty-seven variants (coding and noncoding) were referred for analysis across three laboratories. Blood RNA samples underwent targeted reverse transcription polymerase chain reaction (RT-PCR) analysis with Sanger sequencing of PCR products and agarose gel electrophoresis. Seventeen samples also underwent transcriptome-wide RNA sequencing with targeted splicing analysis based on Sashimi plot visualization. Bioinformatic splicing predictions were obtained using Alamut, HSF 3.1, and SpliceAI software.
Results: Eighty-five variants (33%) were associated with abnormal splicing. The most frequent abnormality was upstream exon skipping (39/85 variants), which was most often associated with splice donor region variants. SpliceAI had greatest accuracy in predicting splicing abnormalities (0.91) and outperformed other tools in sensitivity and specificity.
Conclusion: Splicing analysis of blood RNA identifies diagnostically important splicing abnormalities and clarifies functional effects of a significant proportion of VUSs. Bioinformatic predictions are improving but still make significant errors. RNA analysis should therefore be routinely considered in genetic disease diagnostics.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.This research was funded by National Institute for Health Research (NIHR) and the NewLife Foundation. The Baralle lab is supported by NIHR Research Professorship to D.B. (RP-2016-07-011).published version, accepted version (6 month embargo), submitted versio
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