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 ...

The potential role of respiratory infections in altering the development of atopy and asthma is complex. Infections have been suggested to be effective in preventing the induction of T-helper 2-polarized allergen-specific immunity in early life, but also to exacerbate asthma in older, sensitized individuals. The mechanism(s) underlying these effects are poorly defined. The aim of this work was ...

CONTEXT Proton therapy has currently used to treat brain, spinal and prostate cancers, as well as Breast cancer. Proponents have cited the modality's ability to spare healthy tissue, but critics have claimed the benefit gained from its use has not validated its cost in comparison with photon therapy. The aim of this study was evaluation of proton therapy cost effectiveness versus photon therapy...

A comparison of routine and special histochemical methods that were applied to the epithelial mucins of small intestine from patients with Crohn's disease and from normal controls showed that the normal small intestine (ileum) goblet cells secrete a predominantly non-sulphated sialomucin and that, in contradistinction to the colon, the neuraminidase insensitivity of the sialic acids of the smal...

We analyzed the interactions between human primary cells from pancreatic ductal adenocarcinoma (PDAC) and polymeric scaffolds to develop 3D cancer models useful for mimicking the biology of this tumor. Three scaffold types based on two biocompatible polymeric formulations, such as poly(vinyl alcohol)/gelatin (PVA/G) mixture and poly(ethylene oxide terephthalate)/poly(butylene terephthalate) (PE...

We report the synthesis and characterization of novel mixed-metal binuclear ruthenium(II)-cobalt(II) photocatalysts for hydrogen evolution in acidic acetonitrile. First, 2-(2'-pyridyl)benzothiazole (pbt), 1, was reacted with RuCl(3)·xH(2)O to produce [Ru(pbt)(2)Cl(2)]·0.25CH(3)COCH(3), 2, which was then reacted with 1,10-phenanthroline-5,6-dione (phendione), 3, in order to produce [Ru(pbt)(2)(p...

Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human disease (ie, the Griscelli syndrome type 2). Mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome. So far, 3 Rab27a missense mutations ha...

The standard of care for the management of locally advanced esophageal cancers in the United States is chemotherapy combined with radiation, either definitively, or for those who could tolerate surgery, preoperatively before esophagectomy. Although the appropriate radiation dose remains somewhat controversial, the quality of the radiation delivery is critical for the treatment of esophageal can...

This thesis comes within the scope of algebraic combinatorics and studies problems related to three orders on permutations: the two said weak orders (right and left) and the strong order or Bruhat order. We first look at the action of the symmetric group on multivariate polynomials. By using the divided differences operators, one can obtain some generalisations of the Schur function and form ba...

Background Short-chain PFASs (per- and polyfluoroalkyl substances) are widely used as alternatives to long-chain PFASs. Long-chain PFASs become gradually regulated under REACH (EC No. 1907/2006) and other international regulations, due to having persistent, bioaccumulative and toxic properties and/or being toxic for reproduction. The increasingly used short-chain PFASs are assumed to have a low...