Quality of Life and psychopathology in adults who underwent Hematopoietic Stem Cell Transplantation (HSCT) in childhood: a qualitative and quantitative analysis.

Background: Patients who undergo pediatric Hematopoietic Stem Cell Transplantation (HSCT) may experience long-term psychological sequelae and poor Quality of Life (QoL) in adulthood. This study aimed to investigate subjective illness experience, QoL, and psychopathology in young adults who have survived pediatric HSCT. Method: The study involved patients treated with HSCT in the Hematology-Oncology Department between 1984 and 2007. Psychopathology and QoL were investigated using the SCL-90-R and SF-36. Socio-demographic and medical information was also collected. Finally, participants were asked to write a brief composition about their experiences of illness and care. Qualitative analysis of the texts was performed using T-LAB, an instrument for text analysis that allows the user to highlight the occurrences and co-occurrences of lemma. Quantitative analyses were performed using non-parametric tests (Spearman correlations, Kruskal-Wallis and Mann-Whitney tests). Results: Twenty-one patients (9 males) participated in the study. No significant distress was found on the SCL-90 Global Severity Index, but it was found on specific scales. On the SF-36, lower scores were reported on scales referring to bodily pain, general health, and physical and social functioning. All the measures were significantly (p < 0.05) associated with specific socio-demographic and medical variables (gender, type of pathology, type of HSCT, time elapsed between communication of the need to transplant and effective transplantation, and days of hospitalization). With regard to the narrative analyses, males focused on expressions related to the body and medical therapies, while females focused on people they met during treatment, family members, and donors. Low general health and treatment with autologous HSCT were associated with memories about chemotherapy, radiotherapy, and the body parts involved, while high general health was associated with expressions focused on gratitude (V-Test \ub1 1.96). Conclusion: Pediatric HSCT survivors are more likely to experience psychological distress and low QoL in adulthood compared with the general population. These aspects, along with survivors' subjective illness experience, show differences according to specific medical and socio-demographic variables. Studies are needed in order to improve the care and long-term follow-up of these families

Systems Analysis Implicates WAVE2&nbsp;Complex in the Pathogenesis of&nbsp;Developmental Left-Sided Obstructive&nbsp;Heart Defects.

Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited. To identify causal CHD genes that are associated with specific molecular functions, the study used prior knowledge to filter de novo variants from 2,881 probands with sporadic severe CHD. This approach enabled the authors to identify an association between left ventricular outflow tract obstruction lesions and genes associated with the WAVE2 complex and regulation of small GTPase-mediated signal transduction. Using CRISPR zebrafish knockdowns, the study confirmed that WAVE2 complex proteins brk1, nckap1, and wasf2 and the regulators of small GTPase signaling cul3a and racgap1 are critical to cardiac development

A systems-biology approach to understanding the ciliopathy disorders.

'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function. They are unified by shared clinical features, such as mental retardation, cystic kidney, retinal defects and polydactyly, and by the common localization of the protein products of these genes at or near the primary cilium of cells. With the realization that many previously disparate conditions are a part of this spectrum of disorders, there has been tremendous interest in the function of cilia in developmental signaling and homeostasis. Ciliopathies are mostly inherited as simple recessive traits, but phenotypic expressivity is under the control of numerous genetic modifiers, putting these conditions at the interface of simple and complex genetics. In this review, we discuss the ever-expanding ciliopathy field, which has three interrelated goals: developing a comprehensive understanding of genes mutated in the ciliopathies and required for ciliogenesis; understanding how the encoded proteins work together in complexes and networks to modulate activity and structure-function relationships; and uncovering signaling pathways and modifier relationships

Nature of behaviours that challenge in residents living in aged care homes: implications for psychosocial interventions and service development

Background/Aims: Competing theories exist regarding the causes and nature of behaviours that challenge (BC). The present study attempted to provide better insight into these behaviours and determine whether there were any underlying relationships for people living in care homes with and without dementia. Methods: Cross sectional data for 2185 residents living in 63 UK care homes using the Challenging Behaviour Scale were collected. The incidence (i.e. presence/absence) of 25 commonly reported behaviours that challenge staff were determined using dichotomous scoring. Cluster analysis and Mokken scaling were used to examine underlying relationships. Mokken is a method of analysing data to determine whether there is a ‘latent’ structure within a data set. Results: The prevalence of reported BC was 87.5%. Cluster analysis revealed three main clusters: apathy, agitation with internal focus, agitation with active external focus. For seven of the 25 items a hierarchical model emerged, where behaviours at the bottom of the hierarchy tended to occur in the presence of those higher up. Behaviours at the bottom of the hierarchy (dangerous behaviour) were less frequently observed than the items at the top (lack of self-care, verbal aggression). Conclusion: Some common BC may occur in groups and themed clusters. This study has shown that a hierarchical structure of BC in residents may be present. The findings testify to the complexity in the aetiology and treatment of BC and hence the need for focussed high intensity bio-psychosocial interventions to be targeted towards those with high levels of ‘unmet need’. Implications for future research and practice are discussed

Computational Content Analysis of Negative Tweets for Obesity, Diet, Diabetes, and Exercise

Social media based digital epidemiology has the potential to support faster response and deeper understanding of public health related threats. This study proposes a new framework to analyze unstructured health related textual data via Twitter users' post (tweets) to characterize the negative health sentiments and non-health related concerns in relations to the corpus of negative sentiments, regarding Diet Diabetes Exercise, and Obesity (DDEO). Through the collection of 6 million Tweets for one month, this study identified the prominent topics of users as it relates to the negative sentiments. Our proposed framework uses two text mining methods, sentiment analysis and topic modeling, to discover negative topics. The negative sentiments of Twitter users support the literature narratives and the many morbidity issues that are associated with DDEO and the linkage between obesity and diabetes. The framework offers a potential method to understand the publics' opinions and sentiments regarding DDEO. More importantly, this research provides new opportunities for computational social scientists, medical experts, and public health professionals to collectively address DDEO-related issues.Comment: The 2017 Annual Meeting of the Association for Information Science and Technology (ASIST

Social networks, happiness and health: from sentiment analysis to a multidimensional indicator of subjective well-being

This paper applies a novel technique of opinion analysis over social media data with the aim of proposing a new indicator of perceived and subjective well-being. This new index, namely SWBI, examines several dimension of individual and social life. The indicator has been compared to some other existing indexes of well-being and health conditions in Italy: the BES (Benessere Equo Sostenibile), the incidence rate of influenza and the abundance of PM10 in urban environments. SWBI is a daily measure available at province level. BES data, currently available only for 2013 and 2014, are annual and available at regional level. Flu data are weekly and distributed as regional data and PM10 are collected daily for different cities. Due to the fact that the time scale and space granularity of the different indexes varies, we apply a novel statistical technique to discover nowcasting features and the classical latent analysis to study the relationships among them. A preliminary analysis suggest that the environmental and health conditions anticipate several dimensions of the perception of well-being as measured by SWBI. Moreover, the set of indicators included in the BES represent a latent dimension of well-being which shares similarities with the latent dimension represented by SWBI.Comment: 26 pages, 5 figur