Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.

Banana agronomy – can unravelling the Musa genome help?

Unravelling the Musa genome allows genes and alleles linked to desired traits to be identified. Short stature and early flowering are desirable agronomic features of banana, as they are of bread wheat (Triticum aestivum). In wheat they were achieved through knowledge of the physiology and genetics of vernalization and photoperiod during development. Bananas and plantains have a facultative long-day response to photoperiod, as do wheat and wall cress (Arabidopsis thaliana). Using keyword searches of the genome of Musa acuminata 'Pahang' we found homologues of the genes of either T. aestivum or Arabidopsis that govern responses to vernalization and photoperiod. This knowledge needs to be interpreted in the context of plant development. Bananas have juvenile, mid-vegetative and reproductive phases of development. Leaf and bunch 'clocks' operate concurrently throughout the juvenile and mid-vegetative phases. In the mid-vegetative phase the plant becomes sensitive to photoperiod. Increased sensitivity to photoperiod reduces the overall pace of the bunch clock without affecting the leaf clock. Separation of the clocks changes the link between leaf number and time of flowering. The 'critical' quantitative trait for the time of flowering is the pace of the bunch clock up to bunch initiation. For bunch size it is the duration of the subsequent phase of female hand formation. Plants with either a short juvenile phase or a faster bunch clock in the mid-vegetative phase will produce fewer leaves and bunch early. In turn, independent manipulation of hand number per bunch and/or fruit per hand will provide manageable bunches with appropriate fruit size. Using published data we explore relationships between plant height, leaf number, bunch weight and hand number among bananas and plantains. Identifying and then manipulating the appropriate genes in Musa opens opportunities for earlier flowering, leading to plants with desirable agronomic qualities.

Valoración nutricional mediante curvas de crecimiento de la OMS y las clasificaciones de Gómez / Waterlow. Estudio de prevalencia. Cuenca-2015

Objetivo: Determinar la prevalencia de malnutrición mediante las curvas de crecimiento (OMS) y de desnutrición según la clasificación Gómez/Waterlow; establecer ventajas y desventajas del empleo de ambos sistemas de clasificación. Métodos: Estudio de prevalencia realizado en el Subcentro de Salud Sinincay, con una población de 737 niños/as registrados en la matriz de vigilancia alimentaria y nutricional (SIVAN) durante Enero-Junio 2015, que identificó la malnutrición infantil mediante el uso de criterios OMS y de desnutrición según Gómez/ Waterlow. Resultados: De 47.6% niñas y 52.4% niños, divididos en lactantes (35.8%) y preescolares (64.2%), se determinó la prevalencia de malnutrición según las tablas de OMS (bajo peso 4.6%, bajo peso severo 0.4%, talla baja 20.8%, talla baja severa 2.8%, sobrepeso 0.5% y obesidad 0.3%) y de desnutrición según la clasificación de Gómez/Waterlow (desnutrición aguda 0.1%, desnutrición crónica agudizada 0.1% y enanismo nutricional 30.3%). No hubo variaciones estadísticamente significativas (p>0.05) entre sexo/grupo etario y ambos sistemas de clasificación, pero si existió variación estadística (p<0.05) entre la relación de la OMS y la clasificación Gómez/Waterlow. Conclusiones: El método de Gómez/Waterlow permitió detectar mayor número de casos de desnutrición mientras que las curvas OMS, detectaron sobrepeso y obesidad

Grandes historias a pasos cortos

Documental de carácter intimista protagonizado por Paola Nieto, Álvaro Novoa y Mauricio Ardila, tres personas que a raíz de su enanismo siempre han visto el mundo desde una perspectiva única. En su día a día, enfrentan complejos estereotipos sociales y estigmas por su baja estatura, pero a través de su profesión, su vida social y acompañados de sus seres queridos, han superado esos retos para vivir a plenitud en un mundo de gigantes.

Why are you tall while others are short? Agricultural production and other proximate determinants of global heights

We analyze the proximate determinants of the biological standard of living from a global perspective, namely high-quality nutrition and the disease environment during the nineteenth and twentieth centuries. Until the mid-twentieth century, the local availability of cattle, meat, and milk per capita and the local disease environment mainly determined the stature of the population – and, by implication, how long they lived and how healthy they were. During the late twentieth century, the trade of agricultural products and health-promoting technologies increased in relative importance; hence, the local availabilities became less decisive in explaining height differences.

A Short History of Cultural Studies (Taiwanese edition)

This is the first volume to capture the essence of the burgeoning field of cultural studies in a concise and accessible manner. Other books have explored the British and North American traditions, but this is the first guide to the ideas, purposes and controversies that have shaped the subject. The author sheds new light on neglected pioneers and a clear route map through the terrain. He provides lively critical narratives on a dazzling array of key figures including, Arnold, Barrell, Bennett, Carey, Fiske, Foucault, Grossberg, Hall, Hawkes, hooks, Hoggart, Leadbeater, Lissistzky, Malevich, Marx, McLuhan, McRobbie, D Miller, T Miller, Morris, Quiller-Couch, Ross, Shaw, Urry, Williams, Wilson, Wolfe and Woolf. Hartley also examines a host of central themes in the subject including literary and political writing, publishing, civic humanism, political economy and Marxism, sociology, feminism, anthropology and the pedagogy of cultural studies.

Psychological predictors of the propensity to omit short-response items on a high-stakes achievement test

This article presents the findings of a study of the psychological variables that discriminate between high and low omitters on a high-stakes achievement test using a short-response format. Data were obtained from a questionnaire administered to a random sample (N = 1,908) of students prior to sitting the 1997 Queensland Core Skills (QCS) Test (N = 29,273). Fourteen psychological variables were measured including test anxiety (four subscales), emotional stability, achievement motivation, self-esteem, academic self-concept, self-estimate of ability, locus of control (three subscales), and approaches to learning (two subscales). The results were analyzed using descriptive discriminant analysis and suggested that the psychological predictors of the propensity to omit short-response items include test-irrelevant thinking and academic self-concept, with sex of candidate being a mediating variable.

Multiple-choice versus short-response items: Differences in omit behavior

The overall rate of omission of items for 28,331 17 year old Australian students on a high stakes test of achievement in the common elements or cognitive skills of the senior school curriculum is reported for a subtest in multiple choice format and a subtest in short response format. For the former, the omit rates were minuscule and there was no significant difference by gender or by type of school attended. For the latter, where an item can be 'worth' up to five times that of a single multiple choice item, the omit rates were between 10 and 20 times that for multiple choice and the difference between male and female omit rate was significant as was the difference between students from government and non-government schools. For both formats, females from single sex schools omitted significantly fewer items than did females from co-educational schools. Some possible explanations of omit behaviour are alluded to.