Knowledge on the role of genetic polymorphisms in the etiology of pediatric brain tumors (PBTs) is limited. Therefore, we investigated the association between single nucleotide polymorphisms (SNPs), identified by candidate gene-association studies on adult brain tumors, and PBT risk.The study is based on the largest series of PBT cases to date. Saliva DNA from 245 cases and 489 controls, aged 7...

Despite increasing use of proton therapy (PBT), several systematic literature reviews show limited gains in clinical outcomes, with publications mostly devoted to recent technical developments. The lack of randomised control studies has also hampered progress in the acceptance of PBT by many oncologists and policy makers. There remain two important uncertainties associated with PBT, namely: (1)...

Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...

BACKGROUND Nephronophthisis (NPHP), which affects multiple organs, is a hereditary cystic kidney disease (CKD), characterized by interstitial fibrosis and numerous fluid-filled cysts in the kidneys. It is caused by mutations in NPHP genes, which encode for ciliary proteins known as nephrocystins. The disorder affects many people across the world and leads to end-stage renal disease. The aim of ...

Although not mutagenic by Ames test, 2,5-dimethylfuran (DMF), a leading biofuel candidate, was found to induce chromosomal damage in cultured murine cells, suggesting that it may be genotoxic. We sought to prioritize the environmental and biological impacts of using DMF as a combustible biofuel. First, we assessed DMF and its combustion intermediates for potential persistence, bioaccumulation, ...

Introduction Articular cartilage lacks the ability to sufficiently repair itself. Tissue engineering approaches may initiate functional repair and, therefore, are considered for the treatment of articular cartilage defects. Our method adopts a porous PEGT/PBT scaffold (PolyActive, IsoTis N.V.) with similar mechanical properties to native cartilage, which acts as a 3 dimensional carrier for seed...

The ability of T cells to microlocalize within tissues, such as the lung, is crucial for immune surveillance and increased T-cell infiltration is a feature of many inflammatory lung conditions. T-cell migration has mainly been studied in two-dimensional assays. Using three-dimensional collagen gels to mimic the extracellular matrix of lung tissue, we have characterized the migration of T lympho...

This paper considers the representation theory of towers of algebras of J -trivial monoids. Using a very general lemma on induction, we derive a combinatorial description of the algebra and coalgebra structure on the Grothendieck rings G0 and K0. We then apply our theory to some examples. We first retrieve the classical Krob-Thibon’s categorification of the pair of Hopf algebras QSym/NCSF as re...

High-performance poly(1,4-butylene terephthalate (PBT) nanocomposites have been developed via the consideration of phosphorus-containing agents and amino-carbon nanotube (A-CNT). One-pot functionalization method has been adopted to Preprints (www.preprints.org) | NOT PEER-REVIEWED | Posted: 17 January 2018 doi:10.20944/preprints201801.0161.v1 © 2018 by the author(s). Distributed under a Creativ...

CLINICAL CASE A 35-year-old female patient with blurred vision since childhood, for which no treatment had been given, presented with poor visual acuity. She had white skin and fair yellow hair. There were several well circumscribed deposits in the central and anterior corneal stroma, and iris transillumination and foveal hypoplasia were evident. The clinical diagnosis was oculo-cutaneous albin...