Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Succession in the Family Business: Need to Transfer the ‘Socio-Emotional Wealth’ (SEW)

Rather often we have to confront with the pessimistic views on the future of the family business. Contrary to these prognosis, the FB is not only present but also improving its position in the global economy and playing a key role in the European economy too. They represent 60 % of employment and more than 60 million jobs in the private sector. Among many internal challenges of FB in the five years’ time, the importance of the ‘company succession’ is increasing together with the renewing technology and ‘attracting the right sills/ talents’ (Global Family Survey, 2015). This article is focusing on the transfer of socio-economic wealth (SEW) as a key intangible asset within the intergenerational changes in the FB. The paper outlines the various concepts (narrow vs. broad) of the SEW and special attention is paid to the risk prone [taken] and risk adverse entrepreneurial attitudes. In this relation, the authors made distinction between the ‘opportunity’ and ‘necessity entrepreneurs’. Using empirical experiences based on multi-site company case studies in the three INSIST project countries, the various sub-sections are focusing on the transfer of the following key components of the SEW to the next generation: trust-based social-system, generic human values (i.e. openness, mutual respect, correctness, reliability, responsibility etc.) and ‘practice based – embedded collective knowledge’. Key lesson of this analysis is the following: transferring physical assets in the succession process seems to us less important than the transfer of the intangible one embedded in the company’s culture community. Further systematic national and international investigations – combining quantitative and qualitative research tools – are necessary to acquire more accurate picture on the impacts of transferring both intangible and tangible assets in the succession process in the FB.

Running in the Family – Paternalism and Familiness in the Development of Family Businesses

The study focuses on two features of family businesses (FBs), namely familiness and paternalism. These two concepts are inseparable in two ways: inseparable from family businesses and also from each other. Family businesses differ from one another in the degree of family involvement, leadership and management in the business. Paternalism as a leadership attitude is naturally present in FBs, especially in the founding stage of development. This feature provides the solid bases for establishing a strong and proud culture built around the personality and success of the founder. This characteristic however can become a major hindering factor upon succession. Through a review of the literature and the INSIST studies for Central Europe this study aims to identify the supportive and limiting factors of both phenomena and examine the case studies of the INSIST research project for signs of the existence of these supportive and limiting factors. It is found that the degree of familiness in these firms is a sliding scale and a lack of familiness is not a precursor for failure. Paternalism is found to be broken down into authoritarian, benevolent, moral and enlightened. After discovering studies claiming that paternalism is a stage in the process of leadership style changing from participative to autocratic (or vice versa) and that Central Europe and the current era of instability and uncertainty lead to employees preferring a more autocratic or paternalistic style, our findings suggest that there are more driving than restraining forces for family firms adopting a paternalistic style. Furthermore many cases appear to be on the path from an authoritative towards a more enlightened paternalistic leadership style either out of choice in the search to shake off the drawbacks of other types of paternalism or as part of a natural evolution of this particular leadership style within the context of this study.

Favorability conditions in the adoption of agile method practices for software development in a public banking

The main purpose of this paper is to propose and test a model to assess the degree of conditions favorability in the adoption of agile methods to develop software where traditional methods predominate. In order to achieve this aim, a survey was applied on software developers of a Brazilian public retail bank. Two different statistical techniques were used in order to assess the quantitative data from the closed questions in the survey. The first, exploratory factorial analysis validated the structure of perspectives related to the agile model of the proposed assessment. The second, frequency distribution analysis to categorize the answers. Qualitative data from the survey opened question were analyzed with the technique of qualitative thematic content analysis. As a result, the paper proposes a model to assess the degree of favorability conditions in the adoption of Agile practices within the context of the proposed study.

Critical pedagogy theory and the family business

In contemporary times family business research has been dominated by three theoretical perspectives; principal-agent theory, stewardship theory, and resource-based view theory (Siebels 2012) but at the same time scholars argue that what still needs further attention is how underlying processes and phenomena can be explained (Melin, Nordqvist & Sharma  2014). In order to understand themes such as repression or relations of asymmetry the suggestion in this chapter is to move towards a critical stance of thinking which involves problematizing the obvious issues in family firms (Alvesson & Deetz 2000) and moreover allowing the critical perspective to destabilize assumptions made within earlier research (Freire, 1974). By discussing critical theory in general but foremost the Freirean  (1970, 1974) critical pedagogy specifically, the arguments in the chapter revolves around how critical pedagogy can open up for a more novel view on family business. The purpose is via critical pedagogy discuss family business from a limited situation perspective, and to argue for a Freirean (1970) dialogue as means of developing a critical consciousness for family members in the family business context. The chapter concludes with some recommendations on platforms or common grounds in which dialogue and raising of consciousness can occur in which the concept can open up possibilities for interesting learning transfer and bring multidimensional knowledge into the family firm.

South Carolina/family court circuits meeting benchmark : 80% of pending docket 365 days or less as of July 31, 2016

This is a diagram broken down by circuits of the percentage of family courts meeting the benchmark of 80% of disposing of cases within a year. 15 out of the 16 circuits met the standard.

South Carolina/Family Court Circuits Meeting Benchmark : 80% of Pending Docket 365 Days or Less as of June 30, 2016

This is a diagram broken down by circuits of the percentage of family courts meeting the benchmark of 80% of disposing of cases within a year. Seven out of the 16 circuits met the standard.

Lineage, Marriage, and Social Mobility: the Teles de Meneses Family in the Iberian Courts (Fifteenth and Sixteenth Centuries)

This article discusses the social mobility strategies of the Teles de Meneses family throughout the fifteenth and sixteenth centuries, seeking to understand their influence on the family’s social evolution and improved ranking at the court. Marriage policy and service in the Iberian courts are analyzed over three different generations and from two standpoints: first, the preservation of the family’s preacquired status; second, the diversification of the services performed in the various settings where its influence could be exercised. This will highlight the reasons behind the social evolution of this family and the subsequent granting of titles to some of its members.

An update on the genera Longidorus , Paralongidorus and Xiphinema (Family Longidoridae) in Portugal

The tribe Longidorini within the subfamily Longidorinae (Longidorus spp. and Paralongidorus spp.) and the subfamily Xiphineminae (Xiphinema spp.) are two large nematode groups with about 260 and 230 known species, respectively. They are globally two important groups of ectoparasitic nematodes considered to be major pests because of their activity as vectors of important plant nepovirus, with some species included in the list of quarantine pathogenic organisms in many European countries. Knowledge of the biodiversity and occurrence of this nematode group is a prerequisite for the establishment of sound management strategies and control measures. According to data collected from the databases (such as EPPO, FSTA, and Web of Science) and published in specialised literature, a total of 15 Longidorus, 1 Paralongidorus and 40 Xiphinema species have been recorded as present in Portugal. However, the taxonomic status of some species is controversial, and thus needs to be clarified. A comprehensive review for unravelling the biodiversity and occurrence of nematode species of the genus Longidorus, Paralongidorus and Xiphinema in Portugal is herein provided. This review includes an updated checklist of species with information on the localities, host plants and geographical distribution. Additionally, maps on the species distributions of Longidorinae and Xiphineminae nematodes present in Continental Portugal and the Portuguese Macaronesian islands are provided, as well as unpublished data on authors and comments on the current taxonomic status. Finally, new insights and directions for future research on Longidoridae in Portugal are presented.

Family as the Promoter of Independence Skills in Children with Motor Disabilities

This study developed an individualized proposal to promote, from the family context, the independence of two four-year-old children with motor disabilities. The proposal aimed at helping mothers and fathers to promote different skills within the family context. The results of this study revealed that when the families of children with disabilities are oriented, it is easier for them to start processes that otherwise would be postponed. As a result, it is recommended to create proposals to support the parents and help them to build their own family-growth processes and develop independence living skills in their children with motor disabilities.

Essays in the Economics of the Family and Cultural Transmission

My research aims at identifying the role cultural-ethnic traits play in marriage choices and at uncovering the implications of marital sorting on consequent intra-household decisions. From different perspectives, this thesis focuses on intermarriages, within the Italian marriage market. In the first chapter, I explore the role of ethnic endogamy on marital instability. I document the existence of a positive differential in marital instability of interethnic marriages compared to homogeneous ones and I demonstrate that genetic and ethnolinguistic measures of cultural diversity are informative about the incidence of marital dissolution. The second chapter investigates a novel channel, which explains the differential in household stability and investments across family types: cultural socialization of children. I propose a marital matching model along cultural-ethnic lines, to study the process of family formation and intra-household decision making in a context where ethnic differences between spouses potentially matter both in terms of preferences and technologies for household production. The observed intermarriage, fertility, separation and socialization rates are in line with theoretical predictions and they are consistent with strong preferences of parents toward cultural socialization of children to their own ethnic identity. In the third chapter, I propose and estimate a marital matching model along ethnic lines. I argue that gains to intermarriage depend on both cultural preferences and legal status motives. Taking advantage of the exogenous EU enlargements to East European countries in 2004 and 2007, I show that gains to intermarriage of East European migrants significantly decrease in response to the acquisition of the legal status. The final chapter aims to understand whether judicial decisions respond to the ethnic identity of spouses and what incentives those judgments are guided, by looking at separation and divorce sentences. Studying the legal custody assignment of children, I document a significant differential interacting mothers’ ethnicities with the family type.

Detecting social patterns within 20th century documentary photos: a deep learning based approach

The job of a historian is to understand what happened in the past, resorting in many cases to written documents as a firsthand source of information. Text, however, does not amount to the only source of knowledge. Pictorial representations, in fact, have also accompanied the main events of the historical timeline. In particular, the opportunity of visually representing circumstances has bloomed since the invention of photography, with the possibility of capturing in real-time the occurrence of a specific events. Thanks to the widespread use of digital technologies (e.g. smartphones and digital cameras), networking capabilities and consequent availability of multimedia content, the academic and industrial research communities have developed artificial intelligence (AI) paradigms with the aim of inferring, transferring and creating new layers of information from images, videos, etc. Now, while AI communities are devoting much of their attention to analyze digital images, from an historical research standpoint more interesting results may be obtained analyzing analog images representing the pre-digital era. Within the aforementioned scenario, the aim of this work is to analyze a collection of analog documentary photographs, building upon state-of-the-art deep learning techniques. In particular, the analysis carried out in this thesis aims at producing two following results: (a) produce the date of an image, and, (b) recognizing its background socio-cultural context,as defined by a group of historical-sociological researchers. Given these premises, the contribution of this work amounts to: (i) the introduction of an historical dataset including images of “Family Album” among all the twentieth century, (ii) the introduction of a new classification task regarding the identification of the socio-cultural context of an image, (iii) the exploitation of different deep learning architectures to perform the image dating and the image socio-cultural context classification.

TELFest: an approach to encouraging the adoption of educational technologies

Barriers to technology adoption in teaching and learning are well documented, with a corresponding body of research focused on how these can be addressed. As a way to combine a variety of these adoption strategies, the University of Sheffield developed a Technology Enhanced Learning Festival, TELFest. This annual, week-long event, emphasises the role technology can play through an engaging learning experience which combines expert-led practical workshops, sharing of practice, discussions and presentations by practitioners. As the popularity of the event has grown and the range of topics expanded, a community of practice has organically coalesced among attendees, supporting the mainstream adoption of several technologies and helping to broaden educational innovation beyond isolated pockets. This paper situates TELFest within the technology adoption literature by providing details about TELFest, outlining the results of an investigation into the impact that it has had on attendees' teaching practice and summarising some of the limitations of the method along with reflections on how to address these limitations in the future.

Phylogenetics, Ancestral State Reconstruction, And A New Infrafamilial Classification Of The Pantropical Ochnaceae (medusagynaceae, Ochnaceae S.str., Quiinaceae) Based On Five Dna Regions.

Ochnaceae s.str. (Malpighiales) are a pantropical family of about 500 species and 27 genera of almost exclusively woody plants. Infrafamilial classification and relationships have been controversial partially due to the lack of a robust phylogenetic framework. Including all genera except Indosinia and Perissocarpa and DNA sequence data for five DNA regions (ITS, matK, ndhF, rbcL, trnL-F), we provide for the first time a nearly complete molecular phylogenetic analysis of Ochnaceae s.l. resolving most of the phylogenetic backbone of the family. Based on this, we present a new classification of Ochnaceae s.l., with Medusagynoideae and Quiinoideae included as subfamilies and the former subfamilies Ochnoideae and Sauvagesioideae recognized at the rank of tribe. Our data support a monophyletic Ochneae, but Sauvagesieae in the traditional circumscription is paraphyletic because Testulea emerges as sister to the rest of Ochnoideae, and the next clade shows Luxemburgia+Philacra as sister group to the remaining Ochnoideae. To avoid paraphyly, we classify Luxemburgieae and Testuleeae as new tribes. The African genus Lophira, which has switched between subfamilies (here tribes) in past classifications, emerges as sister to all other Ochneae. Thus, endosperm-free seeds and ovules with partly to completely united integuments (resulting in an apparently single integument) are characters that unite all members of that tribe. The relationships within its largest clade, Ochnineae (former Ochneae), are poorly resolved, but former Ochninae (Brackenridgea, Ochna) are polyphyletic. Within Sauvagesieae, the genus Sauvagesia in its broad circumscription is polyphyletic as Sauvagesia serrata is sister to a clade of Adenarake, Sauvagesia spp., and three other genera. Within Quiinoideae, in contrast to former phylogenetic hypotheses, Lacunaria and Touroulia form a clade that is sister to Quiina. Bayesian ancestral state reconstructions showed that zygomorphic flowers with adaptations to buzz-pollination (poricidal anthers), a syncarpous gynoecium (a near-apocarpous gynoecium evolved independently in Quiinoideae and Ochninae), numerous ovules, septicidal capsules, and winged seeds with endosperm are the ancestral condition in Ochnoideae. Although in some lineages poricidal anthers were lost secondarily, the evolution of poricidal superstructures secured the maintenance of buzz-pollination in some of these genera, indicating a strong selective pressure on keeping that specialized pollination system.