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Despite an explosive growth of next-generation sequencing data, genome diagnostics only provides a molecular diagnosis to a minority of patients. Software tools that prioritize genes based on patient symptoms using known gene-disease associations may complement variant filtering and interpretation to increase chances of success. However, many of these tools cannot be used in practice because they are embedded within variant prioritization algorithms, or exist as remote services that cannot be relied upon or are unacceptable because of legal/ethical barriers. In addition, many tools are not designed for command-line usage, closed-source, abandoned, or unavailable. We present Variant Interpretation using Biomedical literature Evidence (VIBE), a tool to prioritize disease genes based on Human Phenotype Ontology codes. VIBE is a locally installed executable that ensures operational availability and is built upon DisGeNET-RDF, a comprehensive knowledge platform containing gene-disease associations mostly from literature and variant-disease associations mostly from curated source databases. VIBE\'s command-line interface and output are designed for easy incorporation into bioinformatic pipelines that annotate and prioritize variants for further clinical interpretation. We evaluate VIBE in a benchmark based on 305 patient cases alongside seven other tools. Our results demonstrate that VIBE offers consistent performance with few cases missed, but we also find high complementarity among all tested tools. VIBE is a powerful, free, open source and locally installable solution for prioritizing genes based on patient symptoms. Project source code, documentation, benchmark and executables are available at https://github.com/molgenis/vibe.

Parents of patients with a serious illness experience psychological distress, which impacts parents\' wellbeing and, potentially, their ability to care for their children. Parent psychological distress may be influenced by children\'s symptom burden and by families\' financial difficulty.
This study examined the associations among parent psychological distress, parent-reported patient symptoms, and financial difficulty, seeking to determine the relative association of financial difficulty and of patient symptoms to parent psychological distress.
Cross-sectional study of baseline data for 601 parents of 532 pediatric palliative care patients enrolled in a prospective cohort study conducted at seven US children\'s hospitals. Data included self-reported parent psychological distress and parent report of child\'s symptoms and family financial difficulty. We used ordinary least squares multiple regressions to examine the association between psychological distress and symptom score, between psychological distress and financial difficulty, and whether the degree of financial difficulty modified the relationship between psychological distress and symptom score.
The majority of parents were moderately to severely distressed (69%) or severely distressed (17%) and experienced some degree of financial difficulty (65%). While children\'s symptom scores and family financial difficulty together explained more of the variance in parental psychological distress than either variable alone, parental distress was associated more strongly, and to a larger degree, with financial difficulty than with symptom scores alone.
Parent psychological distress was associated with parent-reported patient symptoms and financial difficulty. Future work should examine these relationships longitudinally, and whether interventions to improve symptom management and ameliorate financial difficulties improve parental outcomes.

BACKGROUND: The objective of this retrospective project was to assess the frequency with which patients presenting to an emergency department had used the descriptive terms \"ripping\" and \"tearing\" to describe their symptoms from later-confirmed acute thoracic aortic dissection.
METHODS: The authors conducted a retrospective chart review from 58 patients who had presented to two suburban and urban emergency departments with suspected acute thoracic dissection between 1997 and 2015. They reviewed charts for patients\' pain descriptors in ambulance personnel records and initial notes and dictations from ED triage nurses, staff nurses, and physicians. These pieces of documentation would have been made before the diagnosis of acute thoracic aortic dissection could been confirmed.
RESULTS: The authors identified a sample subset of 29 (50% of total charts pulled) patients later confirmed to have had an acute thoracic aorta dissection. They found that no sample patients used either the descriptors \"ripping\" or \"tearing\" when communicating their presenting symptoms. In this paper, the authors will provide several alternative terms patients have been shown to offer for this life-threatening condition.
CONCLUSIONS: Although the terms \"ripping\" and \"tearing\" have historically been associated with acute thoracic aortic dissections, these project results indicate that clinicians may consider other descriptive symptomatic terms from patients when evaluating patients\' symptoms for this potential life-threatening condition.

The relationship between morphological characteristics of the hip capsule and patient symptoms in the setting of femoroacetabular impingement (FAI) is undefined. In this study, patients with symptomatic FAI prospectively underwent 3T magnetic resonance (MR) imaging of the affected hip and completed the hip disability and osteoarthritis outcome score (HOOS) to determine the correlation between hip capsule anatomy and patient symptoms. Anterior hip capsule volume, posterior capsule volume, anterior-posterior capsule volume ratio, and proximal-distal volume ratio in the anterior capsule were quantified and measured using axial-oblique intermediate-weighted 3D fast spin echo MR images. A total of 35 patients (35 hips) were included for analysis (mean age: 30.6 years; mean body mass index [BMI]: 24.9 kg/m2 ; 57% male). The mean alpha angle was 62.2° ± 4.7°, the mean anterior hip capsule volume was 1705.1 ± 450.3 mm3 , the mean posterior hip capsule volume was 1284.8 ± 268.5 mm3 , the mean anterior to posterior capsule volume ratio was 1.1 ± 0.39, and the mean proximal to distal volume ratio of the anterior capsule was 0.65 ± 0.28. There was no correlation between age, gender, or BMI, and any hip capsule characteristics. Worse scores on the HOOS pain scale were correlated with increased anterior to posterior volume ratio (r = -.38; 95% confidence interval: -0.06 to -0.63). In conclusion, hip capsule morphology correlates with patient symptoms in the setting of FAI as increased anterior capsular volume, relative to posterior capsular volume, is associated with greater patient pain.

BACKGROUND: Head and neck cancer (HNC) patients can experience symptoms due to the tumor itself or to the treatment, with an impact on health-related quality of life (HRQoL). Patient-reported outcome (PRO) measures pertaining to HRQoL are used in medical research and to support clinical decisions. PRO instrument applicability and cultural adaptation must be tested for each population. The aim of this study is to linguistically validate the Italian translation of the M.D. Anderson Symptom Inventory--Head and Neck Module (MDASI-HN).
METHODS: Following forward and backward translation of the items of the English MDASI-HN into Italian, it was administered along with a cognitive debriefing to HNC patients able to read and understand Italian language. Individual and group responses are presented using descriptive statistics.
RESULTS: From May 2013 through September 2013, 56 patients with HNC (18 during curative treatment, 20 in palliative chemotherapy, and 18 in follow-up period) completed the MDASI-HN followed by accompanying cognitive debriefing. Ninety-nine percent of the individual MDASI-HN items were completed. Average time to complete the MDASI-HN was 8.5 min (range 3-15). Results suggested overall ease of completion, relevance, and comprehensibleness of this translated self-report instrument in this Italian patient population.
CONCLUSIONS: The Italian version of the MDASI-HN is linguistically valid; future research should explore dimensionality, reliability, and convergent, discriminant, and predictive validity of this patient-reported instrument, in order to use this translated version in outcomes research and clinical settings.