A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.     

The Children's Planning Initiative: Researching Decision-Making for Children

This paper recounts the story of how a number of workers involved in the care of children decided that they needed to do more than improve their skills and began instead to question some of the assumptions on which child care planning processes are built. The paper records a growing consciousness about the value of action research in developing alternative models of decision-making. It leads us from early questioning, through model creation, and on into testing the model in a new and complex organizational setting. While other voices are quoted, the paper recounts the story from the viewpoint of two actors, practitioner/manager and consultant.     

BOOK REVIEWS

Rethinking the Fifth Discipline: Learning Within the Unknowable by Robert Louis Flood. Sami Potatoes: Living with Reindeer and Perestroika by Michael Robinson and Karim-Aly Kassam. The Self Managing Organization: How Leading Companies Are Transforming the Work of Teams for Real Impact by Ronald E. Purser and Steven Cabana.     

The Third Track of the Open-Systems-Thinking School: An Application of Domain Theory to New Zealand Ports

The Open-Systems Thinking (OST) school identified with Emery and Trist is situated as an important but underutilized approach in systems thinking. The main features of OST are described, including four "tracks" along which OST has developed. The third track, which focuses on interorganizational domains, is considered in detail. It is then applied to a case concerning the complex social dynamics of and in port domains in New Zealand. This exercise enables us to illuminate some lacunae in previous representations of the port domain research, to assess OST's third track regarding its relevance for systemic practice, and to help to bring OST to the table with other systems approaches that are all vying for the attention of researchers, practicing managers, students, and consultants.     

SERVICE VALUE NETWORKS： INTO PRACTICE

Modeling a business to match its customer perceived （and customer desired） outcomes, remains an on-going task. This paper considers shows how a service value networks （SVNs） approach may be engaged to model, and deliver, understanding of the front-end business and its direct engagement with its immediate （or front-end） customers. These front-end customers may be either： （1） its off-line, in-store customers - engaging directly with the business sales staff （or representative）, or-（2） its on-line, virtual customers - engaging with the business via internet or remote access. In this situation, both the business, and the customer draw upon their respective viewpoints, and both sides influence the interaction. External to these business and customer influences are additional factors that capture the immediate and broader global effects - termed environmental effects. These three business-customer engagement areas of influence are captured by a SVN SEM approach.
Without a business-customer encounter of some kind the likelihood of a services business, and a prospecting customer, successfully engaging in an exchange process is reduced. This exchange may be a physical, and/or services exchange, and/or an information and/or ideas exchange. To the business, this encounter is, in effect, a trade, and as a result, the business targets acquiring an economic exchange that will ultimately deliver a net positive economic outcome. To the customer, external and internal information feeds, servicing, perceived value, and satisfaction, are key encounter drivers. SVNs offers a new way to understand the business-customer encounter, and to then utilize this acquired knowledge to either： （1） build a strategic management model, or （2） reengineer its business networks, and to then create a re-positioned, more customer-aligned business operation - one that is capable of delivering win - win, competitive business-customer solutions.     

Cryptic and non-cryptic diversity in New Guinea ground snakes of the genus Stegonotus Duméril,Bibron and Duméril, 1854: a description of four new species (Squamata: Colubridae)

ABSTRACT

The island of New Guinea has been identified as biologically megadiverse but many taxa are still poorly known. This is especially the case for many of the island’s snakes, which by their very nature can be difficult to collect and study. Here we examine the phylogenetic and phylogeographic structure of a poorly studied snake genus, Stegonotus, focusing on the species of New Guinea; until now, Stegonotus has never been examined using modern phylogenetic methods. Using molecular data from 49 individuals representing eight of the ten described species, and including all New Guinea taxa, we estimate a multilocus phylogeny and examine population structure to help identify undescribed taxa. We use morphological data from the corresponding museum vouchered specimens (where available) and also examine additional specimens for taxa not included in the molecular data set to determine morphological differences among putative taxa. We find molecular evidence for four new species of Stegonotus, both morphologically obvious and cryptic, and describe them herein. The recognition of these four species indicates that Stegonotus diversity has been previously underestimated and also suggests that there are likely additional undescribed taxa within the genus. These four taxa increase the number of described species by 40% and further confirm New Guinea as the centre of diversity for the genus.

www.zoobank.org/urn:lsid:zoobank.org:pub:9E21390E-3FD4-40EB-9442-31BC92A76B4F     

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects approximately 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by approximately 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease.