Respiratory Distress Secondary to Esophageal Foreign Body. A Case Report

The ingestion or aspiration of a foreign body is a common, but preventable occurrence in childhood. Primary healthcare personnel should alert parents to the risk of swallowing a foreign object, the signs and the need for immediate medical attention. It should be emphasized that protecting children from access to objects that can be swallowed or aspirated is the best preventive measure. A case of an eight year old child, who had swallowed a marble ball is presented and the symptoms and intervention discussed. Medical staff should be aware of the symptomatic variation in ingested foreign body presentation and the importance of rapid diagnosis and management

Efficacy and mechanisms underlying a gamified attention bias modification training in anxious youth: protocol for a randomized controlled trial

Background Attention bias modification training (ABMT) and cognitive behavioral therapy (CBT) likely target different aspects of aberrant threat responses in anxiety disorders and may be combined to maximize therapeutic benefit. However, studies investigating the effect of ABMT in the context of CBT have yielded mixed results. Here, we propose an enhanced ABMT to target the attentional bias towards threat, in addition to classic CBT for anxiety disorders in youth. This enhanced ABMT integrates the modified dot-probe task used in previous studies, where a target is always presented at the previous location of the neutral and not the simultaneously presented threatening stimulus, with a visual search, where the targets are always presented distally of threatening distractors. These two training elements (modified dot-probe and visual search) are embedded in an engaging game to foster motivation and adherence. Our goal is to determine the efficacy of the enhanced ABMT in the context of CBT. Further, we aim to replicate two previous findings: (a) aberrant amygdala connectivity being the neurobiological correlate of the attentional bias towards threat at baseline; and (b) amygdala connectivity being a mediator of the ABMT effect. We will also explore moderators of treatment response (age, sex, depressive symptoms and irritability) on a behavioral and neuronal level. Methods One hundred and twenty youth (8–17 years old) with a primary anxiety disorder diagnosis all receive CBT and are randomized to nine weeks of either active or control ABMT and symptom improvement will be compared between the two study arms. We will also recruit 60 healthy comparison youth, who along with eligible anxious youth, will be assessed with the dot-probe task during fMRI (anxious youth: before and after training; healthy volunteers: second measurement twelve weeks after initial assessment). Discussion The present study will contribute to the literature by (1) potentially replicating that aberrant amygdala connectivity mediates the attentional bias towards threat in anxious youth; (2) determining the efficacy of enhanced ABMT; and (3) advancing our understanding of the mechanisms underlying ABMT. Trial registration Clinicaltrials.gov: NCT03283930 Trial registration date: September 14th 2017. The trial registration took place retrospectively. Data acquisition started February 1st 2017

CHiME-6 Challenge:Tackling Multispeaker Speech Recognition for Unsegmented Recordings

Following the success of the 1st, 2nd, 3rd, 4th and 5th CHiME challenges we organize the 6th CHiME Speech Separation and Recognition Challenge (CHiME-6). The new challenge revisits the previous CHiME-5 challenge and further considers the problem of distant multi-microphone conversational speech diarization and recognition in everyday home environments. Speech material is the same as the previous CHiME-5 recordings except for accurate array synchronization. The material was elicited using a dinner party scenario with efforts taken to capture data that is representative of natural conversational speech. This paper provides a baseline description of the CHiME-6 challenge for both segmented multispeaker speech recognition (Track 1) and unsegmented multispeaker speech recognition (Track 2). Of note, Track 2 is the first challenge activity in the community to tackle an unsegmented multispeaker speech recognition scenario with a complete set of reproducible open source baselines providing speech enhancement, speaker diarization, and speech recognition modules

CHiME-6 Challenge: Tackling multispeaker speech recognition for unsegmented recordings

International audienceFollowing the success of the 1st, 2nd, 3rd, 4th and 5th CHiME challenges we organize the 6th CHiME Speech Separation and Recognition Challenge (CHiME-6). The new challenge revisits the previous CHiME-5 challenge and further considers the problem of distant multi-microphone conversational speech diarization and recognition in everyday home environments. Speech material is the same as the previous CHiME-5 recordings except for accurate array synchronization. The material was elicited using a dinner party scenario with efforts taken to capture data that is representative of natural conversational speech. This paper provides a baseline description of the CHiME-6 challenge for both segmented multispeaker speech recognition (Track 1) and unsegmented multispeaker speech recognition (Track 2). Of note, Track 2 is the first challenge activity in the community to tackle an unsegmented multispeaker speech recognition scenario with a complete set of reproducible open source baselines providing speech enhancement, speaker diarization, and speech recognition modules

Noncoding deletions reveal a gene that is critical for intestinal function.

Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on human chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital diarrhoea in infants1,2. Reporter assays in transgenic mice show that the ICR contains a regulatory sequence that activates transcription during the development of the gastrointestinal system. Targeted deletion of the ICR in mice caused symptoms that recapitulated the human condition. Transcriptome analysis revealed that an unannotated open reading frame (Percc1) flanks the regulatory sequence, and the expression of this gene was lost in the developing gut of mice that lacked the ICR. Percc1-knockout mice displayed phenotypes similar to those observed upon ICR deletion in mice and patients, whereas an ICR-driven Percc1 transgene was sufficient to rescue the phenotypes found in mice that lacked the ICR. Together, our results identify a gene that is critical for intestinal function and underscore the need for targeted in vivo studies to interpret the growing number of clinical genetic findings that do not affect known protein-coding genes

PEDIA: prioritization of exome data by image analysis.

PURPOSE: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. METHODS: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. RESULTS: The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20-89% and the top 10 accuracy rate by more than 5-99% for the disease-causing gene. CONCLUSION: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis

Allelic Richness following Population Founding Events – A Stochastic Modeling Framework Incorporating Gene Flow and Genetic Drift

<div><p>Allelic richness (number of alleles) is a measure of genetic diversity indicative of a population's long-term potential for adaptability and persistence. It is used less commonly than heterozygosity as a genetic diversity measure, partially because it is more mathematically difficult to take into account the stochastic process of genetic drift for allelic richness. This paper presents a stochastic model for the allelic richness of a newly founded population experiencing genetic drift and gene flow. The model follows the dynamics of alleles lost during the founder event and simulates the effect of gene flow on maintenance and recovery of allelic richness. The probability of an allele's presence in the population was identified as the relevant statistical property for a meaningful interpretation of allelic richness. A method is discussed that combines the probability of allele presence with a population's allele frequency spectrum to provide predictions for allele recovery. The model's analysis provides insights into the dynamics of allelic richness following a founder event, taking into account gene flow and the allele frequency spectrum. Furthermore, the model indicates that the “One Migrant per Generation” rule, a commonly used conservation guideline related to heterozygosity, may be inadequate for addressing preservation of diversity at the allelic level. This highlights the importance of distinguishing between heterozygosity and allelic richness as measures of genetic diversity, since focusing merely on the preservation of heterozygosity might not be enough to adequately preserve allelic richness, which is crucial for species persistence and evolution.</p></div

Wireless Body Area Network Control Policies for Energy-Efficient Health Monitoring

Wireless body area networks (WBANs) have strong potential in the field of health monitoring. However, the energy consumption required for accurate monitoring determines the time between battery charges of the wearable sensors, which is a key performance factor (and can be critical in the case of implantable devices). In this paper, we study the inherent trade-off between the power consumption of the sensors and the probability of misclassifying a patient’s health state. We formulate this trade-off as a dynamic problem, in which at each step, we can choose to activate a subset of sensors that provide noisy measurements of the patient’s health state. We assume that the (unknown) health state follows a Markov chain, so our problem is formulated as a partially observable Markov decision problem (POMDP). We show that all the past measurements can be summarized as a belief state on the true health state of the patient, which allows tackling the POMDP problem as an MDP on the belief state. Then, we empirically study the performance of a greedy one-step look-ahead policy compared to the optimal policy obtained by solving the dynamic program. For that purpose, we use an open-source Continuous Glucose Monitoring (CGM) dataset of 232 patients over six months and extract the transition matrix and sensor accuracies from the data. We find that the greedy policy saves ≈50% of the energy costs while reducing the misclassification costs by less than 2% compared to the most accurate policy possible that always activates all sensors. Our sensitivity analysis reveals that the greedy policy remains nearly optimal across different cost parameters and a varying number of sensors. The results also have practical importance, because while the optimal policy is too complicated, a greedy one-step look-ahead policy can be easily implemented in WBAN systems