Theory of mind in utterance interpretation: the case from clinical pragmatics

The cognitive basis of utterance interpretation is an area that continues to provoke intense theoretical debate among pragmatists. That utterance interpretation involves some type of mind-reading or theory of mind (ToM) is indisputable. However, theorists are divided on the exact nature of this ToM-based mechanism. In this paper, it is argued that the only type of ToM-based mechanism that can adequately represent the cognitive basis of utterance interpretation is one which reflects the rational, intentional, holistic character of interpretation. Such a ToM-based mechanism is supported on conceptual and empirical grounds. Empirical support for this view derives from the study of children and adults with pragmatic disorders. Specifically, three types of clinical case are considered. In the first case, evidence is advanced which indicates that individuals with pragmatic disorders exhibit deficits in reasoning and the use of inferences. These deficits compromise the ability of children and adults with pragmatic disorders to comply with the rational dimension of utterance interpretation

Cardiovascular function and ballistocardiogram: a relationship interpreted via mathematical modeling

Objective: to develop quantitative methods for the clinical interpretation of the ballistocardiogram (BCG). Methods: a closed-loop mathematical model of the cardiovascular system is proposed to theoretically simulate the mechanisms generating the BCG signal, which is then compared with the signal acquired via accelerometry on a suspended bed. Results: simulated arterial pressure waveforms and ventricular functions are in good qualitative and quantitative agreement with those reported in the clinical literature. Simulated BCG signals exhibit the typical I, J, K, L, M and N peaks and show good qualitative and quantitative agreement with experimental measurements. Simulated BCG signals associated with reduced contractility and increased stiffness of the left ventricle exhibit different changes that are characteristic of the specific pathological condition. Conclusion: the proposed closed-loop model captures the predominant features of BCG signals and can predict pathological changes on the basis of fundamental mechanisms in cardiovascular physiology. Significance: this work provides a quantitative framework for the clinical interpretation of BCG signals and the optimization of BCG sensing devices. The present study considers an average human body and can potentially be extended to include variability among individuals

Interpretation of HRCT Scans in the Diagnosis of IPF: Improving Communication Between Pulmonologists and Radiologists.

Idiopathic pulmonary fibrosis (IPF) is a progressive fibrosing interstitial lung disease (ILD). In this review, we describe the central role of high-resolution computed tomography (HRCT) in the diagnosis of IPF and discuss how communication between pulmonologists and radiologists might be improved to make the interpretation of HRCT scans more effective. Clinical information is important in the interpretation of HRCT scans, as the likelihood that specific radiologic features reflect IPF is not absolute, but dependent on the clinical context. In cases where the clinical context or HRCT pattern are inconclusive, multidisciplinary discussion (MDD) between a pulmonologist and radiologist (and, where relevant, a pathologist and rheumatologist) experienced in the differential diagnosis of ILD is necessary to establish a diagnosis. While it can be challenging to convene a face-to-face meeting, MDD can be conducted virtually or by telephone to enable each specialty group to contribute. To make the MDD most effective, it is important that relevant clinical information (for example, on the patient's clinical history, exposures and the results of serological tests) is shared with all parties in advance. A common lexicon to describe HRCT features observed in ILD can also help improve the effectiveness of MDD. A working diagnosis may be made in patients who do not fulfill all the diagnostic criteria for any specific type of ILD, but this diagnosis should be reviewed at regular intervals, with repeat of clinical, radiological, and laboratory assessments as appropriate, as new information pertinent to the patient's diagnosis may become available

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inherited arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with current standards and research findings. Methods: In 2010, the rare variants identified through genetic analysis were classified following recommendations available at that time. Nowadays, the same variants have been reclassified following current American College of Medical Genetics and Genomics recommendations. Findings: Our cohort included 104 cases diagnosed with inherited arrhythmogenic syndromes and 17 post-mortem cases in which inherited arrhythmogenic syndromes was cause of death. 71.87% of variants change their classification. While 65.62% of variants were classified as likely pathogenic in 2010, after reanalysis, only 17.96% remain as likely pathogenic. In 2010, 18.75% of variants were classified as uncertain role but nowadays 60.15% of variants are classified of unknown significance. Interpretation: Reclassification occurred in more than 70% of rare variants associated with inherited arrhythmogenic syndromes. Our results support the periodical reclassification and personalized clinical translation of rare variants to improve diagnosis and adjust treatment

Rett Syndrome: Revised diagnostic criteria and nomenclature

Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. Method: RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT. Results: The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed. Interpretation These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research