Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

The diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sporadic malignant parathyroid tumors, initially diagnosed as adenomas. In one case, the differential diagnosis was complicated by cervical seeding of parathyroid tumor cells. Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. Furthermore, the identification of somatic mutations in the patients‟ parathyroid tumors provided evidence for complete inactivation of the HRPT2 gene, which was consistent with the tumor malignant features. The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. Establishing the diagnosis of hereditary HPT-JT syndrome is relevant for clinical counseling and management of the carriers and their relatives.

Natural infection of triatomines (Hemiptera: Reduviidae) by trypanosomatids in two different environments in the municipality of Ouro Preto do Oeste, State of Rondônia, Brazil

INTRODUCTION: This study analyzed the occurrence and the contamination of triatomines by trypanosomatids in Orbignya speciosa (babassu) specimens in the State of Rondônia, Brazil, in two different environments (pasture and woods). METHODS: Capture of triatomines on babassus and microscopic search for trypanosomatids in their digestive tube were carried out. RESULTS: Four hundred ninety-four (494) specimens were captured (Rhodnius prolixus and R.robustus), of which 35.6% of the triatomines were positive for trypanosomatids. CONCLUSIONS: The high index of natural infection along with the abundance of triatomines points out to the necessity to create an epidemiological surveillance system to monitor vector-borne transmission and deepen the studies on the ecology of such vectors in the Amazon.

Comparison of catheter-related infection risk in two different long-term venous devices in adult hematology-oncology patients

PURPOSE: Infection is the leading complication of long-term central venous catheters, and its incidence may vary according to catheter type. The objective of this study was to compare the frequency and probability of infection between two types of long-term intravenous devices. METHODS: Retrospective study in 96 onco-hematology patients with partially implanted catheters (n = 55) or completely implanted ones (n = 42). Demographic data and catheter care were similar in both groups. Infection incidence and infection-free survival were used for the comparison of the two devices. RESULTS: In a median follow-up time of 210 days, the catheter-related infection incidence was 0.2102/100 catheter-days for the partially implanted devices and 0.0045/100 catheter-days for the completely implanted devices; the infection incidence rate was 46.7 (CI 95% = 6.2 to 348.8). The 1-year first infection-free survival ratio was 45% versus 97%, and the 1-year removal due to infection-free survival ratio was 42% versus 97% for partially and totally implanted catheters, respectively (P <.001 for both comparisons). CONCLUSION: In the present study, the infection risk was lower in completely implanted devices than in partially implanted ones.

THE EFECTS OF SETTLEMENT ON THE PREVALENCE OF AscarisINFECTION IN TWO AMERINDIAN POPULATIONS OF THE BRAZILIAN AMAZON

Studies were made of the intestinal parasites of Amerindian populations of the Uaupes River basin of Brazil. Three groups were sampled: 1) Tukano fisher-agriculturalists who live in permanent riverine villages; 2) Maku hunter-horticulturalists who live in close contact with the Tukano fishing villages; and 3) Maku who inhabit the forest interior and have little contact with permanent settlements. Fecal samples were collected from 498 individuals of which 220 were from the first group, 135 from de second and 143 from the third. The samples were analyzed by means of microflotation and centrifugal sedimentation. A total of 18 protozoan and helminth species were recorded based on the presence of cysts or eggs. These included five nematode species that could not be identified. The three common pathogenic nematodes were found to be prevalent: the hookworm, Necator americanus(96%); the whipworm, Trichuris trichiura(77%) and the large roundworm, Ascaris lumbricoides(75%). The prevalence of Ascarisamong the villages was found to vary from 56 to 100%. Individuals living in, or associated with, permanent settlements had higher prevalence and intensity rates than those living in the nomadic hunter-gatherer way. This is shown to be directly related to fecal contamination of the environment in and around permanent settlements. The prevalence of Ascarisin a population can be used as an indicator of such environmental contamination.

High levels of Mercury and Lead detected by hair analysis in two Venezuelan environments

Mercury and Lead concentrations obtained by ICP-OAS analysis of human hair from riverside communities along the Orinoco river in the Amazon state (Venezuela) were compared with those from Caracas, Venezuela. Taking into account the characteristics of these two environments and the values of the average concentrations of Mercury and Lead, baselines were established suggesting that gold mining activity near the Orinoco river is responsible for the high levels of Mercury in hair from the Amazon state, whereas automobile activity is responsible for high levels of Lead in hair in Caracas.

Fine-root production in two secondary forest sites with distinct ages in Eastern Amazon

The objective of this work was to assess the fine-root (≤ 2 mm diameter) production dynamics of two forest regrowths at different ages. Fine-root production was monitored by the ingrowth core method in one 18-year-old site (2 ha) and one 10-year-old site (0.5 ha), both localized in the Apeú region, Northern Pará State, Brazil. The sites were abandoned after successive shifting cultivation, beginning in 1940. Monthly production of live fine-root was similar between sites and was influenced by rainfall seasonality, with higher production during the dry season than the wet season for mass and length. However, mortality in terms of mass was higher in the 10-year-old site than in the 18-year-old site. The seasonality influenced mortality only in the 18-year old site following the pattern observed for live fine-root. The influence seasonal on mortality in terms of length was different between sites, with higher mortality during the wet season in the 10-year-old site and higher mortality during the dry season in the 18-year-old site. Specific root length was higher during the wet season and at the 10-year-old site. Fine-root production was not influenced by the chronosequence of the sites studied, probably fine-root production may have already stabilized in the sites or it depended more on climate and soil conditions. The production of fine-roots mass and length were indicators that generally showed the same pattern.

Taxonomic relevance of seed and seedling morphology in two Amazonian species of Entada (Leguminosae)

We carried out a comparative morphological study to evaluate the taxonomic value of seed and seedling traits of Entada polystachya and E. simplicata (Leguminosae, Mimosoideae, Mimoseae). Seeds of both species were collected from wild populations in Roraima State, Brazil. Our results show consistent quantitative and qualitative differences between these species regarding their seeds and seedlings. Testa fracture lines, funiculus impression, lens characters, radicle shape and length, and cotyledon lobes length, seedling morphology group, number of pinnae at first node, and hypocotyl length permit a straightforward distinction of E. polystachya from E. simplicata, supporting a recent treatment of the latter taxon as a distinct species, endemic to Roraima State, northern Amazonia, Brazil.

Introducing resistance genes against ToMV, TYLCV and TSWV infections in two tomato varieties (Muchamiel and De la Pera)

Dissertação de mestrado em Biologia Molecular, Biotecnologia e Bioempreendedorismo em Plantas

Resource partitioning and ecomorphological variation in two syntopic species of Lebiasinidae (Characiformes) in an Amazonian stream

ABSTRACTResource partitioning is important for species coexistence. Species with similar ecomorphology are potential competitors, especially when phylogenetically close, due to niche conservatism. The aim of this study was to investigate the resource partitioning among populations of two species of lebiasinids (Copella nigrofasciata and Pyrrhulina aff. brevis) that co-occur in a first-order Amazonian stream, analyzing the trophic ecology, feeding strategies and ecomorphological attributes related to the use of food and space by these species. Fish were captured in May and September 2010. The stomach contents of 60 individuals were analyzed and quantified volumetrically to characterize the feeding ecology of both species. Eleven morphological attributes were measured in 20 specimens and combined in nine ecomorphological indices. Both species had an omnivorous-invertivorous diet and consumed predominantly allochthonous items. Both showed a tendency to a generalist diet, but intrapopulational variation in resource use was also detected. Overall feeding niche overlap was high, but differed between seasons: low during the rainy season and high in the dry season. In the latter, the food niche overlap was asymmetric because C. nigrofasciata consumed several prey of P. aff. brevis, which reduced its food spectrum. The ecomorphological analysis suggests that C. nigrofasciatahas greater swimming capacity (greater relative length of caudal peduncle) than P. aff. brevis, which has greater maneuverability and tendency to inhabit lentic environments (greater relative depth of the body). Our results demonstrate that these species have similar trophic ecology and suggest a spatial segregation, given by morphological differences related to locomotion and occupation of habitat, favoring their coexistence.

Gender, sex and sexuality in two open access communication journals published in Portugal: a critical overview of current discursive practices

The links between gender, sex and sexuality and their relevance are theoretically and politically problematic (Richardson, 2007). One of the difficulties in understanding their interconnections is that these terms are often used differently and ambiguously by different authors (and even by the same authors). This article reports the results of an analysis of the articles published in open access communication journals with known impact factor, edited in Portugal and published between 2005 and 2012. The diverse conceptualisations of those three basic concepts and of their (inter)relationships within communication research are identified. The complexity and the intricate (and often implicit) nature of both the meanings of these categories and their relationships underlie and justify our attention and further research. What the findings suggest about the current communication research into gender issues published in the two journals surveyed is that the ‘Gender differences discourse’ (Sunderland, 2004) is the most pervasive discourse (also) in academic practice. Additionally, they show that gender and sex are mainly taken for a fact, not a question that is worth being studied. The editors of these journals, as well as the scholars submitting manuscripts, need to be more aware of the traditional nature of the theoretical and methodological choices that they make regarding gender- and sex-related issues, as well as of the relative lack of attention to sexuality as a research subject.

Congenital atresia of the ostium of the left coronary artery. Diagnostic difficulty and successful surgical revascularization in two patients

We report two cases of congenital atresia of the ostium of the left coronary artery. Case 1: a six-month-old infant presenting with serious cardiac insufficiency. A noninvasive diagnosis of dilated myocardiopathy was established and the clinical picture was pharmacologically compensated. When the patient was nine months of age, a hemodynamic study was performed that revealed congenital atresia of the ostium of the left coronary artery; the infant immediately underwent a successful anastomosis of the internal mammary artery with the left coronary artery. Case 2: an eleven-year-old asymptomatic boy with a history of heart murmur from the age of six months on, was refered for surgery with a diagnosis of anomalous origin of the left coronary artery from pulmonary trunk. A definitive diagnosis of atresia of the left coronary ostium was only established during surgery. Successful surgical revascularization with the left internal mammary artery, and left ventricular aneurysmectomy were performed.

Caracterización de biotipos ovinos en relación a su producción de carne y lana en dos áreas de la provincia de Córdoba . Characterization of sheep biotypes in relation to the mutton and wool production in two areas into province of Córdoba.

Si bien las existencias ovinas en Córdoba son solo un 15% menores que las caprinas, esta producción no ha tenido igual énfasis en el desarrollo de proyectos de investigación, desarrollo y/o extensión. No obstante, las nuevas circunstancias productivas y las leyes de promoción han generado el desarrollo de emprendimientos comerciales que incluyen esta producción. Siendo una población ovina residual, en su gran mayoría está compuesta de majadas con base criolla y cruzas diversas con razas estandarizadas, frente a lo cual parecería que la problemática productiva de carne y lana tiene una seria limitante. Sin embargo, las experiencias en otros lugares del país y en otros paises confirma una buena alternativa de producción de carne de corderos pesados y lana para tapicería con cruzas y poblaciones primarias. Esto plantea la hipótesis que el desarrollo de sistemas de producción ovina basada en corderos livianos y/o pesados se complementa con la producción de lana para tapicería. El objetivo general de este proyecto es: evaluar biológica y económicamente biotipos ovinos ya criados en dos áreas de la provincia, en relación a la producción de carne y lana a través de estudios de estructuras de poblaciones y ensayos específicos, con la finalidad de conocer la posible rentabilidad en cada caso. El proyecto se va a desarrollar en dos localidades con carcacterísticas agroecológicas distintas: llanura con producción agrícola (Grupo Cambio Rural Los Pecorinos, Villa María) y pastizales de altura (Asociación de Arrendatarios de Pampa de Olaen, La Falda). Inicialmente se van a desarrollar estudios de estructura productiva en carne y lana e identificación de biotipos específicos y luego se va a desarrollar un ensayo de engorde de corderos destetados, evaluación de la producción de lana, del crecimiento y faena para evaluar calidad de canal y calidad de carne para dos categorias: livianos(2 meses edad de faena) y pesados (5 meses). Este proyecto pretende demostrar la factibilidad de producir corderos pesados en las condiciones actuales y con los biotipos existentes, cumpliementando el ingreso con la producción de lana de excelente calidada para la confección de alfombras, lo cual no deberías de ser incompatible entre sí (carne-lana).

A comparative study in two secondary schools aimed at improving their energy management: Archbishop McHale College Tuam, Coláiste Cholmcille Indreabhánn

Climate change is a crisis that is going to affect all of our lives in the future. Ireland is expected to have increased storms and rain throughout the country. This will affect our lives greatly unless we do something to change it. In an attempt to try and reduce the impacts of climate change, countries across the world met to address the problem. The meeting became known as the Kyoto Protocol. The Kyoto protocol set out objectives for each developed country to achieve with regards to carbon emissions to the same levels as 1990 levels. Due to the economy in Ireland being at a low point in 1990, Ireland was given a target of 13% carbon emissions above 1990 levels. In order to meet targets Ireland produced two energy papers, the green paper and the white paper. The green paper identified drivers for energy management and control; they were security of energy supply, economic competitiveness and environmental protection. The white paper produced targets in which we should aim to achieve to try and address the green papers drivers. Within the targets was the plan to reduce energy consumption in the public sector by 33% by 2020 through energy conservation measures. Schools are part of the public sector that has targets to reduce its energy consumption. To help to achieve targets in schools initiatives have been developed by the government for schools. Energy audits should be performed in order to identify areas where the schools can improve their current trends and show where they can invest in the future to save money and reduce the schools overall environmental footprint. Grants are available for the schools for insulation through the energy efficiency scheme and for renewable energy technologies through the ReHeat scheme. The promotion of energy efficient programs in schools can have a positive effect for students to have an understanding. The Display Energy Certificate is a legal document that can be used to understand how each school is performing from an energy perspective. It can help schools to understand why they need to change their current energy management structure. By improving the energy management of the schools they then improve the performance on the Display Energy Certificate. Schools should use these tools wisely and take advantage of the grants available which can in the short to long term help them to save money and reduce their carbon footprint.

The importance of dietary calcium consumption in two species of semi-terrestrial grapsoid crabs

Calcium (Ca) is essential for crustaceans, due to calcium carbonate (CaCO3) deposition in the new exoskeleton to harden it. The purpose of this work was to study short term Ca balance in terms of dietary Ca ingestion in two phylogenetically related crabs (Superfamily Grapsoidea) showing different degrees of terrestrial adaptations: Sesarma rectum Randall, 1840 and Neohelice granulata (Dana, 1851). Dietary Ca ingestion was studied using purified diets with different Ca concentrations (0, 2.2 and 6.66 % Ca), together with measurements of Ca excretion and Ca hemolymph levels. The results showed that both crabs had the same response to foods containing different levels of Ca, with both species eating more of the high Ca diet. However, S. rectum consumed more per mg body mass at all Ca concentrations (6 mg.g-1 for S. rectum against 3 mg.g-1 for N. granulata). Both species excreted/egested Ca differently: S. rectum excreted Ca proportionally to ingestion, whereas N. granulata maintained constant faecal Ca output at all dietary Ca levels. Moreover, Ca hemolymph levels for crabs fed the different diets were independent of dietary Ca. In conclusion, both S. rectum and N. granulata seem to regulate the consumption of diets containing more Ca, which suggests a fine balance for Ca intake.