Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation

Early onset of primary hyperparathyroidism (PHPT) and multiglandular involvement suggest a familial form in which germline mutation of a PHPT-related gene(s) and a somatic event at the same locus can be often demonstrated. We investigated the involvement of multiple endocrine neoplasia type 1 (MEN1) and HRPT2 genes in a 39-year-old man with recurrent PHPT. PHPT was firstly diagnosed at the age of 21 and the patient had two recurrences separated by extended periods of normocalcemia. This unusual history prompted us to investigate other family members and study the MEN1 and HRPT2 genes. An HRPT2 germline missense mutation in exon 3 (R91P) was found in the index case, which was associated with different HRPT2 somatic alterations in each of the three examined parathyroid tumors. These findings are consistent with Knudson's 'two hit' concept of biallelic inactivation of classical tumor suppressor genes. Screening of 15 asymptomatic relatives was negative for the R91P germline mutation. All the three abnormal parathyroid specimens showed cystic features at histology and were negative for parafibromin immunostaining. In one specimen, diffuse parafibromin staining was evident in a rim of normal parathyroid tissue surrounding the adenomatous lesion. Our study shows that different somatic genetic events at the HRPT2 locus are responsible for the asynchronous occurrence of multiple adenomas in a patient carrying an HRPT2 germline mutation. The finding of diffuse parafibromin staining in a rim of normal parathyroid tissue, but not in the contiguous adenomatous lesion, reinforces the concept that loss of parafibromin expression is responsible for the development of parathyroid tumors in this setting

Charge transport and trapping in Cs-doped poly(dialkoxy-p-phenylene vinylene) light-emitting diodes

Al/Cs/MDMO-PPV/ITO (where MDMO-PPV stands for poly[2-methoxy-5-(3'-7'-dimethyloctyloxy)-1,4phenylene vinylene] and ITO is indium tin oxide) light-emitting diode (LED) structures, made by physical vapor deposition of Cs on the emissive polymer layer, have been characterized by electroluminescence, current-voltage, and admittance spectroscopy. Deposition of Cs is found to improve the balance between electron and hole currents, enhancing the external electroluminescence efficiency from 0.01 cd A-1 for the bare Al cathode to a maximum of 1.3 cd A-1 for a Cs coverage of only 1.5×1014 atoms/cm2. By combining I-V and admittance spectra with model calculations, in which Cs diffusion profiles are explicitly taken into account, this effect could be attributed to a potential drop at the cathode interface due to a Cs-induced electron donor level 0.61 eV below the lowest unoccupied molecular orbital. In addition, the admittance spectra in the hole-dominated regime are shown to result from space-charge-limited conduction combined with charge relaxation in trap levels. This description allows us to directly determine the carrier mobility, even in the presence of traps. In contrast to recent literature, we demonstrate that there is no need to include dispersive transport in the description of the carrier mobility to explain the excess capacitance that is typically observed in admittance spectra of p-conjugated materials

Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

Background: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage 653 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage 653 CKD in a large cohort of patients affected by T1DM. Methods: A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici Diabetologi, AMD) initiative constitutes the study population. Urinary albumin excretion (ACR) and estimated GFR (eGFR) were retrieved and analyzed. The incidence of stage 653 CKD (eGFR < 60 mL/min/1.73 m2) or eGFR reduction > 30% from baseline was evaluated. Results: The mean estimated GFR was 98 \ub1 17 mL/min/1.73m2 and the proportion of patients with albuminuria was 15.3% (n = 654) at baseline. About 8% (n = 337) of patients developed one of the two renal endpoints during the 4-year follow-up period. Age, albuminuria (micro or macro) and baseline eGFR < 90 ml/min/m2 were independent risk factors for stage 653 CKD and renal function worsening. When compared to patients with eGFR > 90 ml/min/1.73m2 and normoalbuminuria, those with albuminuria at baseline had a 1.69 greater risk of reaching stage 3 CKD, while patients with mild eGFR reduction (i.e. eGFR between 90 and 60 mL/min/1.73 m2) show a 3.81 greater risk that rose to 8.24 for those patients with albuminuria and mild eGFR reduction at baseline. Conclusions: Albuminuria and eGFR reduction represent independent risk factors for incident stage 653 CKD in T1DM patients. The simultaneous occurrence of reduced eGFR and albuminuria have a synergistic effect on renal function worsening

Eliciting the Demand for Long Term Care Coverage: A Discrete Choice Modelling Analysis

We evaluate the demand for long term care (LTC) insurance prospects in a stated preference context, by means of the results of a choice experiment carried out on a representative sample of the Emilia-Romagna population. Choice modelling techniques have not been used yet for studying the demand for LTC services. In this paper these methods are first of all used in order to assess the relative importance of the characteristics which define some hypothetical insurance programmes and to elicit the willingness to pay for some LTC coverage prospects. Moreover, thanks to the application of a nested logit specification with partial degeneracy, we are able to model the determinants of the preference for status quo situations where no systematic cover for LTC exists. On the basis of this empirical model, we test for the effects of a series of socio-demographic variables as well as personal and household health state indicators

Tourist development, morphology and tsunamy risk in Antofagasta (Chile): an uncertain equilibrium

The city of Antofagasta is located on a coastal terrace formed by marine abrasion, mainly in the Quaternary period. It is bordered by the sea on one side and by a steep mountain face rising to great heights on the other (Cordillera della Costa). Because the terrace is broader in the northern sector (more than 3 km wide), the expansion of the city – which has already taken place along the coast covering an area of around 30 km – is now mainly taking place in this direction. The rapid topographic development of the city at the end of the 1930s was linked to the building of a large port serving the whole of northern Chile for the loading of mineral resources from inland areas (mainly saltpetre, but also copper) and replacing the smaller port of Coloso situated to the south of Antofagasta. In the course of time this development continued to strengthen, adopting a settlement pattern that involved little planning and was often chaotic (not least because of the particular morphology of the land with its large quantity of aeolian deposits and alluvium). Only in its initial stages did urbanisation follow the grid pattern layout of traditional South American city planning. What has taken place, therefore, is an intense process of humanisation of the landscape of a coastal ecosystem whose equilibrium has never been more fragile: the immense force of the wave motion along the entire coastal belt demands continuous interventions to protect the ports and beaches. In fact, while still an important mineral centre and port (a new and nationally strategic port is currently being created to the north of the city), Antofagasta is also trying to develop its tourist potential, thanks to the expansion and redevelopment of existing facilities (the creation of housing blocks, road infrastructure, artificial beaches and green areas). A number of public works are also being carried out to improve the city’s general appearance, as laid down in the Bicentenary Project – Chile 2010. Policies regarding urban renewal and tourist development must, however, give due consideration to the fact that Antofagasta is subject to a high tsunami risk. Already in 1997 SHOA drew up a chart showing areas of flooding by tsunami in the city, based on two important events that took place in 1877 and 1995. An analysis of the most recent of these events showed how the gradient of the submerged beach can effect the rising of the water mass over the coast. In specific terms, the 1995 tsunami was recorded as being “non-destructive” because of the low levels it reached and the small extent of damage it caused (due in part to the day and time on which it occurred – a Sunday night at low tide). However, what would happen if the morphology of the sea floor in the Antofagasta area were modified in order to accommodate new economic structures and tourist facilities

Moving Culturally Relevant Pedagogy From Theory to Practice: Exploring Teachers’ Application of Culturally Relevant Education in Science and Mathematics

This article reports on urban elementary teachers’ understandings of cultural relevancy and the practices they enacted after a professional development on culturally relevant education (CRE) and cognitive apprenticeship. Focus group interviews support that participating teachers understood some principles of CRE but did not always match the theory to practice before our professional development. After training, video data of teaching support that this divide was mediated. These findings point to a need to engage in explicit theory-to-practice research about cultural relevancy in urban science, technology, engineering, and mathematics (STEM) teaching. Implications are provided relating to teachers planning lessons purposefully to infuse cultural relevancy into their STEM classrooms