Enhancing Asthma Control through IT: Design, Implementation and Planned Evaluation of the Mobile Asthma Companion

The personal and financial burden of asthma highly depends on a patient’s disease self-management skill. Scalable mHealth apps, designed to empower patients, have the potential to play a crucial role in asthma disease management. However, the actual clinical efficacy of mHealth asthma apps is poorly understood due to the lack of both methodologically sound research and accessible evidence-based apps. We therefore apply design science with the goal to design, implement and evaluate a mHealth app for people with asthma, the Mobile Asthma Companion (MAC). The current prototype of MAC delivers health literacy knowledge triggered by nocturnal cough rates. We conclude by proposing a randomized controlled trial to test the efficacy of our prototype

Bibliographie zur Einkommens- und Verbrauchsstichprobe (EVS): Stand 22. Oktober 2014

Die vorliegende EVS-Bibliographie wurde als Dienstleistung für die Sozialwissenschaften im Arbeitsbereich Haushaltsbudgetdaten der GESIS-Abteilung „Dauerbeobachtung der Gesellschaft“ erarbeitet und dokumentiert alle uns bekannten Arbeiten mit Daten der Einkommens- und Verbrauchsstichproben, die in Büchern und Fachzeitschriften veröffentlicht sind oder als "graue Literatur" (in Form von Arbeitsberichten, Diskussionspapieren, Dissertationen, Diplom- oder Magisterarbeiten usw.) vorliegen. Neben den bibliographischen Angaben enthält die EVS-Bibliographie Abstracts der dokumentierten Arbeiten. Diese Zusammenfassungen sind unter besonderer Berücksichtigung derjenigen Teile einer Publikation erstellt worden, in denen EVS-Daten verwendet wurden

Towards the Design of a Smartphone-Based Biofeedback Breathing Training: Indentifying Diaphragmatic Breathing Patterns From a Smartphones\u27 Microphone

Asthma, diabetes, hypertension, or major depression are non-communicable diseases (NCDs) and impose a major burden on global health. Stress is linked to both the causes and consequences of NCDs and it has been shown that biofeedback-based breathing trainings (BBTs) are effective in coping with stress. Here, diaphragmatic breathing, i.e. deep abdominal breathing, belongs to the most distinguished breathing techniques. However, high costs and low scalability of state-of-the-art BBTs that require expensive medical hardware and health professionals, represent a significant barrier for their widespread adoption. Health information technology has the potential to address this important practical problem. Particularly, it has been shown that a smartphone microphone has the ability to record audio signals from exhalation in a quality that can be compared to professional respiratory devices. As this finding is highly relevant for low-cost and scalable smartphone-based BBTs (SBBT) and – to the best of our knowledge - because it has not been investigated so far, we aim to design and evaluate the efficacy of such a SBBT. As a very first step, we apply design-science research and investigate in this research-in-progress the relationship of diaphragmatic breathing and its acoustic components by just using a smartphone’s microphone. For that purpose, we review related work and develop our hypotheses based on justificatory knowledge from physiology, physics and acoustics. We finally describe a laboratory study that is used to test our hypotheses. We conclude with a brief outlook on future work

3D modeling of the mechanical behavior of ceramics with pores of different size

Movable cellular automaton method was used for simulating uniaxial compression of 3D porous ceramic samples. Pores were considered explicitly by removing randomly selected automata from the original FCC packing. Distribution of pores in space, their size and the total fraction were varied. It is shown that the relation between mechanical properties of the material and its porosity significantly depends on the pore size. Thus, value of the elastic modulus of the samples with large pores is greater than that of the samples with small pores by average value of 3%-16%. Strength value of the samples with large pores is less than that of the samples with small pores by average value of 12% up to the porosity of 0.55, and then becomes to be greater. When the samples contain small and large pores there is a maximum of mechanical properties at ratio of volumes of large and small pores of about 0.75

Automatic Recognition, Segmentation, and Sex Assignment of Nocturnal Asthmatic Coughs and Cough Epochs in Smartphone Audio Recordings: Observational Field Study

Background: Asthma is one of the most prevalent chronic respiratory diseases. Despite increased investment in treatment, little progress has been made in the early recognition and treatment of asthma exacerbations over the last decade. Nocturnal cough monitoring may provide an opportunity to identify patients at risk for imminent exacerbations. Recently developed approaches enable smartphone-based cough monitoring. These approaches, however, have not undergone longitudinal overnight testing nor have they been specifically evaluated in the context of asthma. Also, the problem of distinguishing partner coughs from patient coughs when two or more people are sleeping in the same room using contact-free audio recordings remains unsolved. Objective: The objective of this study was to evaluate the automatic recognition and segmentation of nocturnal asthmatic coughs and cough epochs in smartphone-based audio recordings that were collected in the field. We also aimed to distinguish partner coughs from patient coughs in contact-free audio recordings by classifying coughs based on sex. Methods: We used a convolutional neural network model that we had developed in previous work for automated cough recognition. We further used techniques (such as ensemble learning, minibatch balancing, and thresholding) to address the imbalance in the data set. We evaluated the classifier in a classification task and a segmentation task. The cough-recognition classifier served as the basis for the cough-segmentation classifier from continuous audio recordings. We compared automated cough and cough-epoch counts to human-annotated cough and cough-epoch counts. We employed Gaussian mixture models to build a classifier for cough and cough-epoch signals based on sex. Results: We recorded audio data from 94 adults with asthma (overall: mean 43 years; SD 16 years; female: 54/94, 57%; male 40/94, 43%). Audio data were recorded by each participant in their everyday environment using a smartphone placed next to their bed; recordings were made over a period of 28 nights. Out of 704,697 sounds, we identified 30,304 sounds as coughs. A total of 26,166 coughs occurred without a 2-second pause between coughs, yielding 8238 cough epochs. The ensemble classifier performed well with a Matthews correlation coefficient of 92% in a pure classification task and achieved comparable cough counts to that of human annotators in the segmentation of coughing. The count difference between automated and human-annotated coughs was a mean –0.1 (95% CI –12.11, 11.91) coughs. The count difference between automated and human-annotated cough epochs was a mean 0.24 (95% CI –3.67, 4.15) cough epochs. The Gaussian mixture model cough epoch–based sex classification performed best yielding an accuracy of 83%. Conclusions: Our study showed longitudinal nocturnal cough and cough-epoch recognition from nightly recorded smartphone-based audio from adults with asthma. The model distinguishes partner cough from patient cough in contact-free recordings by identifying cough and cough-epoch signals that correspond to the sex of the patient. This research represents a step towards enabling passive and scalable cough monitoring for adults with asthma

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategie

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease

Dupuytren´s disease, a fibromatosis of the connective tissue in the palm, is a common complex disease with a strong genetic component. Up to date nine genetic loci have been found to be associated with the disease. Six of these loci contain genes that code for Wnt signalling proteins. In spite of this striking first insight into the genetic factors in Dupuytren´s disease, much of the inherited risk in Dupuytren´s disease still needs to be discovered. The already identified loci jointly explain ~1% of the heritability in this disease. To further elucidate the genetic basis of Dupuytren´s disease, we performed a genome-wide meta-analysis combining three genome-wide association study (GWAS) data sets, comprising 1,580 cases and 4,480 controls. We corroborated all nine previously identified loci, six of these with genome-wide significance (p-value < 5x10-8). In addition, we identified 14 new suggestive loci (p-value < 10−5). Intriguingly, several of these new loci contain genes associated with Wnt signalling and therefore represent excellent candidates for replication. Next, we compared whole-transcriptome data between patient- and control-derived tissue samples and found the Wnt/β-catenin pathway to be the top deregulated pathway in patient samples. We then conducted network and pathway analyses in order to identify protein networks that are enriched for genes highlighted in the GWAS meta-analysis and expression data sets. We found further evidence that the Wnt signalling pathways in conjunction with other pathways may play a critical role in Dupuytren´s disease

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

CSNK2B encodes for casein kinase II subunit beta (CK2b), the regulatory subunit of casein kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene have been recently identified as a cause of Poirier-Bienvenu neurodevelopmental syndrome (POBINDS), but functional evidence is sparse. Here, we report five unrelated individuals: two of them manifesting POBINDS, while three are identified to segregate a new intellectual disability-craniodigital syndrome (IDCS), distinct from POBINDS. The three IDCS individuals carried two different de novo missense variants affecting the same codon of CSNK2B. Both variants, NP_001311.3; p.Asp32His and NP_001311.3; p.Asp32Asn, lead to an upregulation of CSNK2B expression at transcript and protein level, along with global dysregulation of canonical Wnt signaling. We found impaired interaction of the two key players DVL3 and b-catenin with mutated CK2b. The variants compromise the kinase activity of CK2 as evident by a marked reduction of phosphorylated b-catenin and consequent absence of active b-catenin inside nuclei of the patient-derived lymphoblastoid cell lines (LCLs). In line with these findings, whole-transcriptome profiling of patient-derived LCLs harboring the NP_001311.3; p.Asp32His variant confirmed a marked difference in expression of genes involved in the Wnt signaling pathway. In addition, whole-phosphoproteome analysis of the LCLs of the same subject showed absence of phosphorylation for 313 putative CK2 substrates, enriched in the regulation of nuclear b-catenin and transcription of the target genes. Our findings suggest that discrete variants in CSNK2B cause dominant-negative perturbation of the canonical Wnt signaling pathway, leading to a new craniodigital syndrome distinguishable from POBINDS