Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are clinically similar but also heterogeneous in terms of major or minor involvement of different organs/systems, burden of disease, and rate of progression. The attenuated forms of MPS, due to their less severe presentations, are more difficult to diagnose and often receive a significantly delayed diagnosis. On the other hand, the diagnosis is very important since the attenuated forms may benefit from earlier treatments. The aim of this paper is to describe the natural history and the clinical signs useful to arise a suspicion of an attenuated form of MPS. MPS patients usually show a cluster of signs and symptoms, one of which may be the trigger for an evaluation by a specialist. Individuals with attenuated MPS are mostly cognitively normal, and dysmorphisms of the facies may be mild or absent. The most frequently involved organs/systems are the osteoarticular system, heart, and eyes. These patients may also have hepatosplenomegaly, hearing loss, and respiratory problems. When they are referred to a specialist (rheumatologist, cardiologist, ophthalmologist, surgeon, orthopedist, etc.) for their main complaint, the other signs and symptoms are likely to be missed in the medical history. To avoid missing data and to save time, we propose a semistructured medical history form to be filled in by the patients or their caregivers while waiting for evaluation by a specialist

Lanthanide-Based Metal–Organic Frameworks with Single-Molecule Magnet Properties

Lanthanide metal-organic frameworks (Ln-MOFs) showing single-molecule magnet (SMM) properties are an ever-growing family of materials where the magnetic properties can be tuned by various interrelated parameters, such as the coordinated solvent, temperature, organic linkers, lanthanide ions and their coordination environment. An overview of the general synthetic methodologies to access MOFs/Ln-MOFs and the peculiarities and parameters to control and/or fine-tune their SMM behavior is herein presented. Additionally, diverse challenging strategies for inducing SMM/SIM behavior in an Ln-MOF are discussed, involving redox activity and chirality. Furthermore, intriguing physical phenomena such as the CISS effect and CPL are also highlighted

A new method for evaluating the distribution of aggregate claims

In the present paper, we propose a method of practical utility for calculating the aggregate claims distribution in a discrete framework. It is an approximated method but unlike the other approximated methods proposed in the literature: the approximation concerns both the counting distribution and the convolution of the severity distributions; the approximation does not consist in truncating the original distribution up to a given number of terms nor in replacing it with another distribution or a more general function (but simply in considering only the significant numerical realizations and in neglecting the others); the resulting approximation of the aggregate claims distribution is lower than a prefixed maximum error (10(-6) in our applications). In particular, the probability distribution and also the first three moments are exact with the prefixed maximum error. The proposed method does not require special assumptions on the counting distribution nor the identical distribution of the severity random variables and it does not incur in underflow and overflow computational problems. It proves to be more flexible, easier and cheaper than the (exact and approximated) methods using recursion and Fast Fourier Transform. We show some applications using both a Poisson distribution and a Generalized Pareto mixture of Poisson distributions as counting distribution. In addition to the specific application proposed in this paper, the method can be applied in many other (life and nonlife) actuarial fields where the sum of discrete random variables and the calculation of compound distributions are involved. Besides, it can be extended in multivariate cases. (c) 2005 Elsevier Inc. All rights reserved

SarA Is an Essential Positive Regulator of Staphylococcus epidermidis Biofilm Development

Staphylococcus epidermidis biofilm formation is associated with the production of the polysaccharide intercellular adhesin (PIA)--poly-N-acetylglucosamine polysaccharide (PNAG) by the products of the icaADBC operon. Recent evidence indicates that SarA, a central regulatory element that controls the production of Staphylococcus aureus virulence factors, is essential for the synthesis of PIA/PNAG and the ensuing biofilm development in this species. Based on the presence of a sarA homolog, we hypothesized that SarA could also be involved in the regulation of the biofilm formation process in S. epidermidis. To investigate this, we constructed nonpolar sarA deletions in two genetically unrelated S. epidermidis clinical strains, O-47 and CH845. The SarA mutants were completely defective in biofilm formation, both in the steady-state conditions of a microtiter dish assay and in the flow conditions of microfermentors. Reverse transcription-PCR experiments showed that the mutation in the sarA gene resulted in downregulation of the icaADBC operon transcription in an IcaR-independent manner. Purified SarA protein showed high-affinity binding to the icaA promoter region by electrophoretic mobility shift assays. Consequently, mutation in sarA provoked a significant decrease in the amount of PIA/PNAG on the cell surface. Furthermore, heterologous complementation of S. aureus sarA mutants with the sarA gene of S. epidermidis completely restored biofilm formation. In summary, SarA appeared to be a positive regulator of transcription of the ica locus, and in its absence, PIA/PNAG production and biofilm formation were diminished. Additionally, we present experimental evidence showing that SarA may be an important regulatory element that controls S. epidermidis virulence factors other than biofilm formation

The Archaeo-Term Project: Multilingual Terminology in Archaeology

In this paper, we present the Archaeo-Term Project, along with one of its first efforts in enhancing multilingual access to Archaeological data, making available a resource of Archaeological terms within the framework of YourTerm CULT project. In order to enhance and promote the use of a terminological common ground across different languages the Archaeo-Term multilingual Glossary is intended both for scholars, experts in the field, translators and the general public. Its first release contains terms in Italian, English, German, Spanish and Dutch together with PoS, definitions and other linguistic information. This paper presents the data and the methodology adopted to create the glossary as well as the evaluation of the first results

Insights into the Structure of Dot@Rod and Dot@Octapod CdSe@CdS Heterostructures

CdSe@CdS dot@rods with diameter around 6 nm and length of either 20, 27, or 30 nm and dot@octapods with pod diameters of ?15 nm and lengths of ?50 nm were investigated by X-ray absorption spectroscopy. These heterostructures are prepared by seed-mediated routes, where the structure, composition, and morphology of the CdSe nanocrystals used as a seed play key roles in directing the growth of the second semiconducting domain. The local structural environment of all the elements in the CdSe@CdS heterostructures was investigated at the Cd, S, and Se K-edges by taking advantage of the selectivity of X-ray absorption spectroscopy, and was compared to pure reference compounds. We found that the structural features of dot@rods are independent of the size of the rods. These structures can be described as made of a CdSe dot and a CdS rod, both in the wurtzite phase with a high crystallinity of both the core and the rod. This result supports the effectiveness of high temperature colloidal synthesis in promoting the formation of core@shell nanocrystals with very low defectivity. On the other hand, data on the CdSe@CdS with octapod morphology suggest the occurrence of a core composed of a CdSe cubic sphalerite phase with eight pods made of CdS wurtzite phase. Our findings are compared to current models proposed for the design of functional heterostructures with controlled nanoarchitecture

A retrospective analysis of 3 156 admissions with fever of unknown origin in a large Italian hospital

Background: fever of unknown origin (FUO) is defined as a fever with no etiologic diagnosis after standardized investigations performed during 3 days in hospital or after at least 3 ambulatory visits. Our study aims to describe the epidemiology of classic FUO through the retrospective analysis of 902 861 admissions to a large University Hospital in Italy, to investigate its temporal trend, and to evaluate differences between young and old patients. Methods: we retrieved data records of all the admissions between the 1st January 1988 and 31st December 2007. Proportional admission rate (PAR ) of FUO was calculated. Time trends of FUO admissions were analysed by joinpoint regression, with time changes expressed as Expected Annual Percent Change (EA PC). The ICD 9-CM code was used to identify the diagnosis on discharge of FUO cases. Results: in the study period 3 156 patients were admitted with a diagnosis of FUO (PAR=3.50 per 1 000). The time-trend analysis showed two joinpoints, the first in 1995 (EAPC of 307.80, 95% CI: 89.66-776.84, p=0.002), and the second in 1998 (EAPC=-8.57, 95% CI: -10.37-6.73; p<0.001). Around 22% of admissions remained without a definitive diagnosis of FUO, with this percentage being lower in patients ≥65 years compared with subjects aged 21-64. Conclusions: FUO is a leading cause of admission to hospitals, as well as of morbidity and mortality, thus representing a challenge for diagnostic medicine and hospital care. It is necessary to develop a diagnostic methodology for FUO , so as to reduce costs of preventable hospitalizations

An unusual spontaneous recanalization by multiple palmar arteriovenous connections of a chronically occluded radiocephalic hemodialysis fistula

Preservation of a vascular access is crucial in the management of hemodialysis patients. In this regard, percutaneous transluminal angioplasty (PTA) is an effective tool if performed after an adequate understanding of preliminary fistulograms. The present case showed a chronic dysfunction of a radial-cephalic arteriovenous fistula (AVF) due to arterial occlusion and partially relieved by the spontaneous development of multiple small arteriovenous connections in the palmar region of the hand. This dense network had been so far able to ensure a sufficient retrograde blood flow for an effective hemodialytic performance. The angioplasty of the post-anastomotic stenotic segment of the radial artery was effective in restoring this neoformed AVF patency