Winking earlobe sign.
Ontology highlight
ABSTRACT:
SUBMITTER: Ono R
PROVIDER: S-EPMC8752453 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:We investigated the frequency and clinical significance of diagonal earlobe crease (DELC) in cognitively impaired patients using imaging biomarkers, such as white matter hyperintensities (WMH) on MRI and amyloid-? (A?) PET. A total of 471 cognitively impaired patients and 243 cognitively normal (CN) individuals were included in this study. Compared with CN individuals, cognitively impaired patients had a greater frequency of DELC (OR 1.6, 95% CI 1.1-2.2, P?=?0.007). This relationship was more prominent in patients with dementia (OR 1.8, 95% CI 1.2-2.7, P?=?0.002) and subcortical vascular cognitive impairment (OR 2.4, 95% CI 1.6-3.6, P?<?0.001). Compared with A?-negative cognitively impaired patients with minimal WMH, A?-positive patients with moderate to severe WMH were significantly more likely to exhibit DELC (OR 7.3, 95% CI 3.4-16.0, P?<?0.001). We suggest that DELC can serve as a useful supportive sign, not only for the presence of cognitive impairment, but also for cerebral small vessel disease (CSVD) and A?-positivity. The relationship between DELC and A?-positivity might be explained by the causative role of CSVD in A? accumulation.
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Project description:Ventricular septal rupture (VSR) is an uncommon but potentially lethal complication of acute myocardial infarction (MI). Its prompt recognition is essential to permit timely institution of corrective measures. The present study was undertaken to assess the diagnostic accuracy of a novel and unique angiographic sign, the 'winking coronary sign (WCS)', for recognizing post-MI VSR. The WCS is defined as partial transient occlusion of the infarct-related culprit artery overlying the site of VSR during ventricular systole with near normal filling in the diastole. A total of 56 patients with post-MI VSR (mean age 60.9 ± 9.9 years, 75% male) were compared with 73 age- and sex-matched acute MI patients without VSR. The extent of coronary artery disease was not different between the two groups, but higher number of patients in the VSR group had thrombolysis in MI grade 3 flow (57.1% vs 34.5%, P 0.01). The WCS was observed in 67.9% of the patients with VSR but in none of the patients without VSR (p < 0.0001), yielding a sensitivity of 67.9% and specificity of 100% for this sign for diagnosing underlying VSR. This demonstrates the potential utility of the WCS for diagnosing VSR in patients in whom the VSR has developed in the time frame between the echocardiography and angiography or has been missed during the initial clinical and/or echocardiographic evaluation.
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Project description:Coronary artery disease is a global challenge for healthcare systems. Early diagnosis is a key issue to improve quality of life and reduce morbidity and mortality. Diagonal earlobe crease, a wrinkle extending obliquely across the earlobe, was linked by many authors to various atherosclerotic diseases. This systematic review aimed at summarizing the diagnostic accuracy of diagonal earlobe crease for diagnosis of chronic and acute coronary syndromes in adults. Cochrane's recommendations for systematic reviews of diagnostic test accuracy studies were followed. The protocol was registered on PROSPERO. Seven electronic databases were searched up to April 2021. The risk of bias and applicability were assessed using the QUADAS-2 tool. Meta-analysis was not performed. Finally, 13 cross-sectional studies evaluating 3951 patients were analyzed, all of which focused on chronic coronary syndromes defined as anatomically significant coronary stenosis. Invasive coronary angiography was used as a reference in most studies, except one which utilized computed tomography angiography. Sensitivity ranged from 26% to 90%, and specificity from 32% to 96%. Positive likelihood ratios varied from 1.11 to 7.03, but most results were below 2. Negative likelihood ratios were from 0.84 to 0.30, but most values exceeded 0.5. Diagnostic accuracy of diagonal earlobe crease for the detection of chronic coronary syndromes is insufficient. It only slightly changes pre-test probability, and its mere presence or absence should not affect the clinical management of the patients. However, for its feasibility and easy interpretation, Frank's sign could be considered as a part of physical examination.
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Project description:The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9. The large self-reported 23andMe cohort recapitulated each of these six loci. Moreover, meta-analysis across all four cohorts revealed a total of 49 significant (p < 5 × 10-8) loci. Annotation and enrichment analyses of these 49 loci showed strong evidence of genes involved in ear development and syndromes with auricular phenotypes. RNA sequencing data from both human fetal ear and mouse second branchial arch tissue confirmed that genes located among associated loci showed evidence of expression. These results provide strong evidence for the polygenic nature of earlobe attachment and offer insights into the biological basis of normal and abnormal ear development.
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Project description:BackgroundThe association between the presence of a diagonal earlobe crease (DEC) and coronary artery disease has been prescribed earlier. However, it is unclear whether patients with acute myocardial infarction (AMI) and DEC have a higher risk of dying.MethodsStudy participants were persons with AMI who were included in the KORA Myocardial Infarction Registry Augsburg from August 2015 to December 2016. After taking pictures of both earlobes, two employees independently assessed the severity of DEC in 4°. For analysis, the expression of the DEC was dichotomized. Information on risk factors, severity and therapy of the AMI was collected by interview and from the medical record. Vital status post AMI was obtained by population registries in 2019. The relationship between DEC and survival time was determined using Cox proportional hazards models.ResultsOut of 655 participants, 442 (67.5%) showed DEC grade 2/3 and 213 (32.5%) DEC grade 0/1. Median observation period was 3.06 years (5-1577 days). During this period, 26 patients (12.2%) with DEC grade 0/1 and 92 patients (20.8%) with grade 2/3 died (hazard ratio 1.91, 95% confidence interval (CI) 1.23-2.96, p = 0.0037). In the fully adjusted model, patients with DEC grade 2/3 had a 1.48-fold increased risk of death compared to the DEC grade 0/1 patient group (CI 0.94-2.34, p = 0.0897). The fully adjusted model applied for 1-year survival revealed a significant, 2.57-fold hazard ratio of death (CI 1.07-6.17, p = 0.0347) for the patients with DEC grade 2/3.ConclusionsOur results indicate that DEC is independently associated with 1-year AMI survival.
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Project description:Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.
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Project description:Brain Computer-Interface (BCI) technology plays a considerable role in the control of rehabilitation or peripheral devices for stroke patients. This is particularly due to their inability to control such devices from their inherent physical limitations after such an attack. More often than not, the control of such devices exploits electroencephalogram (EEG) signals. Nonetheless, it is worth noting that the extraction of the features and the classification of the signals is non-trivial for a successful BCI system. The use of Transfer Learning (TL) has been demonstrated to be a powerful tool in the extraction of essential features. However, the employment of such a method towards BCI applications, particularly in regard to EEG signals, are somewhat limited. The present study aims to evaluate the effectiveness of different TL models in extracting features for the classification of wink-based EEG signals. The extracted features are classified by means of fine-tuned Random Forest (RF) classifier. The raw EEG signals are transformed into a scalogram image via Continuous Wavelet Transform (CWT) before it was fed into the TL models, namely InceptionV3, Inception ResNetV2, Xception and MobileNet. The dataset was divided into training, validation, and test datasets, respectively, via a stratified ratio of 60:20:20. The hyperparameters of the RF models were optimised through the grid search approach, in which the five-fold cross-validation technique was adopted. The optimised RF classifier performance was compared with the conventional TL-based CNN classifier performance. It was demonstrated from the study that the best TL model identified is the Inception ResNetV2 along with an optimised RF pipeline, as it was able to yield a classification accuracy of 100% on both the training and validation dataset. Therefore, it could be established from the study that a comparable classification efficacy is attainable via the Inception ResNetV2 with an optimised RF pipeline. It is envisaged that the implementation of the proposed architecture to a BCI system would potentially facilitate post-stroke patients to lead a better life quality.
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Project description:Background. Long noncoding RNAs (lncRNAs) play key roles in a wide range of biological processes and their deregulation results in human disease, including keloids. Earlobe keloid is a type of pathological skin scar, and the molecular pathogenesis of this disease remains largely unknown. Methods. In this study, microarray analysis was used to determine the expression profiles of lncRNAs and mRNAs between 3 pairs of earlobe keloid and normal specimens. Gene Ontology (GO) categories and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed to identify the main functions of the differentially expressed genes and earlobe keloid-related pathways. Results. A total of 2068 lncRNAs and 1511 mRNAs were differentially expressed between earlobe keloid and normal tissues. Among them, 1290 lncRNAs and 1092 mRNAs were upregulated, and 778 lncRNAs and 419 mRNAs were downregulated. Pathway analysis revealed that 24 pathways were correlated to the upregulated transcripts, while 11 pathways were associated with the downregulated transcripts. Conclusion. We characterized the expression profiles of lncRNA and mRNA in earlobe keloids and suggest that lncRNAs may serve as diagnostic biomarkers for the therapy of earlobe keloid.
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