APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

BACKGROUND: Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. METHODS: We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. RESULTS: A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. CONCLUSION: The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean famil

Preliminary Results on Light Conditions Manipulation in Octopus vulgaris (Cuvier, 1797) Paralarval Rearing

High paralarvae mortality is a major bottleneck currently hindering the control over the lifecycle of common octopus (Octopus vulgaris Cuvier, 1797). It is believed that this problem might be related to either zoo-technical and/or nutritional aspects. The present paper is focused on the study of different zoo-technical aspects related to light conditions on the rearing of paralarvae, including the effects of polarization in prey ingestion, the use of a blue filter to simulate natural conditions, and the use of focused light to avoid reflections of the rearing tank’s walls. In the first experiment, O. vulgaris paralarvae ingestion of Artemia sp. and copepods (Tisbe sp.) was assessed under either normal or polarized light. In the second experiment, the effect of a blue filter with natural light or focused artificial light on growth and mortality was assessed over 15 days of rearing. Ingestion rate was not influenced by light polarization. Nonetheless, a significantly higher ingestion of Artemia sp. with respect to copepods was observed. The blue filter promoted the use of natural light conditions in Octopus paralarval culture, while focused light reduced the collision of the paralarvae against the walls. However, no significant differences were found in paralarval growth nor survivalEn prens

May Measurement Month 2018: a pragmatic global screening campaign to raise awareness of blood pressure by the International Society of Hypertension

Aims Raised blood pressure (BP) is the biggest contributor to mortality and disease burden worldwide and fewer than half of those with hypertension are aware of it. May Measurement Month (MMM) is a global campaign set up in 2017, to raise awareness of high BP and as a pragmatic solution to a lack of formal screening worldwide. The 2018 campaign was expanded, aiming to include more participants and countries. Methods and results Eighty-nine countries participated in MMM 2018. Volunteers (≥18 years) were recruited through opportunistic sampling at a variety of screening sites. Each participant had three BP measurements and completed a questionnaire on demographic, lifestyle, and environmental factors. Hypertension was defined as a systolic BP ≥140 mmHg or diastolic BP ≥90 mmHg, or taking antihypertensive medication. In total, 74.9% of screenees provided three BP readings. Multiple imputation using chained equations was used to impute missing readings. 1 504 963 individuals (mean age 45.3 years; 52.4% female) were screened. After multiple imputation, 502 079 (33.4%) individuals had hypertension, of whom 59.5% were aware of their diagnosis and 55.3% were taking antihypertensive medication. Of those on medication, 60.0% were controlled and of all hypertensives, 33.2% were controlled. We detected 224 285 individuals with untreated hypertension and 111 214 individuals with inadequately treated (systolic BP ≥ 140 mmHg or diastolic BP ≥ 90 mmHg) hypertension. Conclusion May Measurement Month expanded significantly compared with 2017, including more participants in more countries. The campaign identified over 335 000 adults with untreated or inadequately treated hypertension. In the absence of systematic screening programmes, MMM was effective at raising awareness at least among these individuals at risk

Global urban environmental change drives adaptation in white clover

Urbanization transforms environments in ways that alter biological evolution. We examined whether urban environmental change drives parallel evolution by sampling 110,019 white clover plants from 6169 populations in 160 cities globally. Plants were assayed for a Mendelian antiherbivore defense that also affects tolerance to abiotic stressors. Urban-rural gradients were associated with the evolution of clines in defense in 47% of cities throughout the world. Variation in the strength of clines was explained by environmental changes in drought stress and vegetation cover that varied among cities. Sequencing 2074 genomes from 26 cities revealed that the evolution of urban-rural clines was best explained by adaptive evolution, but the degree of parallel adaptation varied among cities. Our results demonstrate that urbanization leads to adaptation at a global scale

Competitive Peruvian and Chilean avocado export profile

In the last 10 years, Peru has increased planting areas and exports volume on 'Hass' avocado becoming an emerging important factor in the international market. In those conditions, it has started to compete with Chile, the second world avocado exporter. To estimate the competitive business export profile of these two countries, their importance in the international markets was analyzed using the market insertion matrix (MIM). The negotiation power of both countries was analyzed including providers and clients (importing countries), replacement threats, industry inside rivalry, and threat of newer competitors. The MIM allowed the evaluation of the dynamic of participation and the rate of growth of the exports values of the main exporting countries. Results have shown that for the 2009-2014 periods, Mexico and Chile are ahead in the competitive range determined for this purpose, followed by Peru and New Zealand. This indicates that these countries are the most competitive in the avocado export business. Peru has reached a high competitive position and presents important opportunities of export growth. This situation is mainly due to the increasing demand that avocado imports have presented and to the international trade liberalization by the FTA (Free Trade Agreements)

EXPERIENCIA SUBJETIVA DE ESTUDIANTES Y DOCENTES QUE VIVENCIAN UN CAMBIO CURRICULAR

Objetivo: Conocer la experiencia subjetiva de estudiantes y docentes respecto del cambio curricular. Metodología: Estudio transversal, muestra de 169 estudiantes de cuarto año curricular y 32 docentes. Información recogida en cuestionario “Inquietudes y procedimientos para adoptar Innovaciones Educativas” (IPIE) validado y adaptado al estudio. Análisis descriptivo. Estudio respetó normas éticas y consentimiento informado. Resultados: 26,0% de alumnos correspondió a Tecnología Médica; 22,5% Enfermería y Nutrición, respectivamente, y 29,0% Obstetricia. Edad media de 21,3±1,43 años. Mujeres 68,1%. En “Información”, los estudiantes mostraron el promedio más alto en el ítem “Quisiera saber lo que otros están haciendo en esta área” (4,1±0,9), y los docentes en “Me gustaría saber si se contará con los recursos para mantener esta innovación en un futuro inmediato” (4,7±0,4). En “Funcionalidad”, promedio más alto correspondió a “Me gustaría saber qué es lo que esta innovación va a requerir para mantenerla en el futuro” (4,3±0,8) y el más bajo en “Estoy totalmente ocupado/a en otras cosas, para mí la innovación no es prioridad” (2,4±1,4). En “Resultados”, los docentes presentaron el promedio más alto en “Me interesa evaluar mi impacto sobre los estudiantes” y “Quisiera que otros equipos de docentes se motiven con los logros que tenemos en este proceso de innovación curricular” (4,6±0,4; 4,6±0,4). Conclusiones: Estudiantes y docentes se mostraron conformes con la experiencia del cambio curricular. Aún existen dudas respecto de cómo este cambio afectará las competencias del estudiantado y la sustentabilidad en el tiempo. Es necesario continuar esta línea investigativa durante el ejercicio profesional de egresados

Effect of calcium and anti-browning agents on total phenols and antioxidant capability of 'Packham's Triumph' pears packed in modified atmosphere

The effect of calcium propionate (PCa) 1% p/v, ethylenediaminetetraacetic acid (EDTA) 0.1% p/v, cysteine (CIS) 0.5% p/v and citric acid (AC) 0.5% p/v were evaluated on the total phenol content, antioxidant capability and respiration rate of 'Packham's Triumph' pear wedges, packed in modified atmosphere (MA, 8-11% O2 and 14-16% CO2 after 6 days of storage) and stored at 5°C for 8 days. The treatments were control (washed with water at 5°C, MA), PCa + EDTA + CIS + AC (MA), and PCa + EDTA + CIS (MA). The evaluations were performed on days 1, 3 and 8 after processing. The respiration rate of the control samples was 42% lower than the pear wedges treated with PCa and anti-browning agents (10-12 mg CO2 kg⁻¹ h⁻¹) during 8 days of storage. On days 3 and 8, the pear wedges treated with PCa + EDTA + CIS + AC and PCa + EDTA + CIS showed respiration rates 55% higher than the control samples. On the other hand, the total phenol content was preserved along the storage period, even though it was 27% lower than the content in peeled fresh fruit (265 mg 100 gfw-1). At the end of the storage period, the PCa + EDTA + CIS showed the highest phenolic content (214 mg 100 gfw-1), while it was lower in the other treatments (146 mg 100 gfw-1). According to the antioxidant capability, non-significantly statistical differences were shown throughout shelf-life, except those wedges treated with PCa + EDTA + CIS whose antioxidant capability was increased by 67%. After the minimally processing operations chemical agent immersions and MA packaging, the total phenol content was diminished compared to the initial fresh flesh fruit. In addition, MA could have a high impact on gas atmosphere inside the packages and preservation of the functional quality of 'Packham's Triumph' pear wedges because no differences were detected among treatments

Terevaka Archaeological Outreach (TAO) 2016 field report: Exploring a new dimension

Since 2003, Terevaka Archaeological Outreach (TAO) has provided educational opportunities for local high school students within the Rapa Nui community. The program was created in an effort to restructure the traditional priorities of international scientific expeditions to the island, and since 2003 the three primary goals of TAO have remained the same: (1) To offer experiential learning opportunities specific to cultural and natural resources that surround the local community; (2) To promote awareness and expertise in conservation measures and sustainable development; and (3) To document and study both cultural and natural phenomena of the past and today