Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome

The Kagami–Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal uniparental disomy 14 [upd(14)pat], epimutations, and microdeletions affecting the maternally derived imprinted region of chromosome 14q32.2. More than 77 cases of KOS have been reported; however, only one mosaic upd(14)pat case has been reported. Here we report a second mosaic upd(14)pat case. The prognosis of upd(14)pat patients is poor because of severe respiratory insufficiency. We summarized prenatal ultrasound findings of KOS to raise awareness of this condition for possible diagnosis of KOS prenatally when polyhydramnios combination with a small bell-shaped thorax and other related features are first observed. Prenatal diagnosis using methylation-specific multiplex ligation-dependent probe amplification (MLPA) or a single-nucleotide polymorphism-based microarray analysis is recommended.

Epiphyas postvittana (light brown apple moth).

E. postvittana is a small, bell-shaped moth, whose caterpillars feed on a very wide range of plants. The eggs, larvae and pupae can be associated with plant material and readily transported. The pest status of this insect in horticultural crops is very significant. It is native to Australia and was distributed to New Zealand, Hawaii, New Caledonia and the UK with apples [Malus domestica] or other plant material in the late 1800s. It has since spread throughout lowland New Zealand, and in recent years has spread through southern parts of the UK, and Ireland. In Hawaii, it appears to be confined to altitudes above 1100 m, and can largely be considered a pest of temperate regions.

KEY WORDS “BELL”, “SMALL BELLS” IN ALEXANDER BASHLACHEV’S POEM “THE TIME OF BELLS”

A. Bashlachev’s poetry reflects the historical background of Russia in 1970-1990s, the world perception of rock generation, the thirst for spiritual growth. Artistic identity of the poet who grew up on Russian mythological and folklore traditions, reliance on legacy of Russian literature shaped his individuality within a short period of time. With all its transparency his discourse becomes figurative and symbolic, requires deep plunge into the background of the era and philosophical evaluation. A. Bashlachev transforms his poems into the myth-like texts-codes. He makes his way from rational to irrational. These are magic meanings assigned to the poetics of the key words “bell” and “small bell” as reflected in the poem “The time of bells”. From verse to verse A. Bashlachev brings together discovered keys relying on historical and domestic truth contributing to their existential meanings - Life, People, Russia - with everyday and natural issues - poets who are able to meet the challenges of Time. It is this very understanding of the idioimages - Bell and Poets - that leads the rock-poet to the final of his search for the Name of Names.

Micro Sand Engine Beach Stabilization Strategy at Puerto Morelos, Mexico

In the last decade, innovative beach nourishment strategies have been developed, driven by the increased worldwide interest in environmentally friendly coastal protection measures. In this context, the massive nourishment project of the Netherlands, known as Sand Engine, begun in 2011, has been hailed as a successful means of beach protection. Continuous monitoring, field campaigns, and numerical modeling have shown that the great volume of sand deployed is gradually transported by the waves and currents along the coastline, avoiding the need for repeated invasive, small scale beach replenishments. A very small, bell-shaped Sand Engine was designed to protect the beachfront at a tourist resort near Puerto Morelos, Mexico. To estimate the morphological response of the beach and the functioning of the micro Sand Engine as a sand reservoir, XBeach numerical modelling was applied to the project. The micro Sand Engine is seen to be a sustainable and eco-friendly coastal protection measure, especially applicable when a large nourishment project is not viable. Maintenance work for the nourishment is cost and time effective, and any negative impacts to sensitive ecosystems nearby can be detected and controlled quickly.

Development of a Low-Cost Wireless Phonocardiograph With a Bluetooth Headset under Resource-Limited Conditions

Commercially available digital stethoscopes can be used as a phonocardiograph to record heart sounds. However, procuring a costly digital stethoscope may not be possible under resource-limited conditions. A low-cost, wire connected, and mobile phone-assisted phonocardiograph has been reported previously. The aim of this study was to develop a low-cost and wireless phonocardiograph for resource-limited settings. A Bluetooth headset was dismantled to find its microphone. A stethoscope ear knob was cut to make a small bell and it was attached to the microphone. This modified Bluetooth headset was capable of recording sounds while connected to a mobile device with audio recording application. The modified Bluetooth headset, mobile phone, and audio recording software can serve as a wireless phonocardiograph (WiPCGh). Heart sounds were successfully recorded with the help of the newly developed WiPCGh. The audio files were shared with a personal computer (PC) via Bluetooth. The wave form was analyzed in a PC-based audio editing application. First and second heart sounds with systolic and diastolic murmur were identified. WiPCGh can be utilized in recording heart sounds for academic and telemedicine purposes. However, the capability of WiPCGh in the diagnosis of cardiac diseases is yet to be explored in future studies.

Fixing positive change

Purpose – This article aims to outline how tangible objects can encourage more efficient working practices and how they can be powerful tools for leading change within an organisation. It looks specifically at how Toyota, Haier and IDEO have very powerful symbols and the type of behaviour this wish to encourage with the company. Design/methodology/approach – This paper discusses the use of objects as powerful symbols and relates this to three specific companies. Findings – It might seem strange to denote core values through such things as a long piece of rope running through a factory, a sledgehammer attached to a company wall and a small bell that is occasionally rung in meetings. Chosen carefully, however, and with real meaning behind them, those objects can be very powerful symbols that have a lasting impact on corporate culture and can encourage positive change within the organisation. Originality/value – This article outlines how tangible objects can encourage more efficient working practices and how they can be powerful tools for leading change within an organisation.

072 New Pepper Germplasm for Ornamental and Ornamental/Culinary Applications

Ornamental peppers are a novel and growing segment of the ornamentals industry. Currently available varieties are utilized as pot plants and in bedding plant applications. Utilizing unimproved populations developed from initial crosses with Indian Capsicum land races, germplasm lines with unique gene combinations for multiple fruiting, fruit orientation, leaf pigmentation and leaf variegation were developed and released by USDA-ARS. Via introgression of diverse Capsicum species accessions and heirloom varieties into these populations, more recent efforts seek to exploit abundant genetic variation for fruit shape, size, color and pungency, foliar attributes, and plant growth habit to develop new pepper germplasm for ornamental and dual ornamental/culinary applications. Fruit pungency of selected material may range from mild to extremely pungent. Fruit shape may be round, conical, or lobed. Whereas small fruit size is generally well suited for ornamental applications, ornamental/culinary types exploit larger upright conical or small bell-shaped fruit. Plant foliage may be uniformly green in color, exhibit varying degrees of anthocyanin accumulation, or display variegation. Inheritance of selected attributes, potential barriers to development of select recombinants, and examples of representative advanced selections in the breeding program will be presented.