RESUMEN
OBJECTIVE: The primary aim was to determine whether 3D video-head-impulse-test vestibulo-ocular reflex (vHIT VOR)-gains correlate with computed tomography (CT) and magnetic resonance (MR) lesions in a series of carriers of the p.(Pro51Ser)-variant (P51S) in the COCH-gene (DFNA9). Secondary aim was to compare routine imaging with second peer review radiologic lecture. STUDY DESIGN: Analytical cross-sectional study. SETTING: Secondary referral center. PATIENTS: Twenty-four p.P51S carriers with MR and CT images. Eighteen carriers were selected of whom both 3D-vHIT and imaging data were available within a time interval of 24âmonths. INTERVENTIONS: All imaging data were reassessed by two independent neuroradiologists. vHIT VOR-gains were correlated with semi-circular canal (SCC) lesions. MAIN OUTCOME MEASURES: Correlation between vHIT VOR-gains and SCC lesions, and additional lesions detected during scientific lecture of imaging data. RESULTS: The average gain of the ipsilateral labyrinth was significantly lower when positive CT (0.3215; pâ=â0.0122) and MR results (0.3215; pâ=â0.0134).92% of ears presented MR lesions on at least one SCC, whereas this was 75% on CT. The posterior SCC is the most frequently affected on MR and CT. Second lecture led to nine additional MR and 16 CT lesions. CONCLUSIONS: Significant correlation was observed between radiological lesions at any SCC and lower average gain of the three ipsilateral SCC. The substantially larger number of lesions during scientific assessment stresses the need to fully inform radiologists concerning differential diagnosis to facilitate accurate diagnosis when planning imaging. Focal sclerosis and narrowing of SCC in DFNA9 represent a possible biomarker of advanced stages of otovestibular deterioration.
Asunto(s)
Prueba de Impulso Cefálico , Reflejo Vestibuloocular , Estudios Transversales , Proteínas de la Matriz Extracelular , Prueba de Impulso Cefálico/métodos , Pérdida Auditiva Sensorineural , Humanos , Espectroscopía de Resonancia Magnética , Canales Semicirculares/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: In this study we aimed to evaluate the predictive cross-sectional sensitivity and longitudinal concordance of a machine-learning algorithm in a series of genetically confirmed p.(Pro51Ser) variant carriers (DFNA9). STUDY DESIGN: Cross-sectional study. SETTING: Tertiary and secondary referral center. PATIENTS: Audiograms of 111 subjects with the p.(Pro51Ser) mutation in the COCH-gene were analyzed cross-sectionally. A subset of 17 subjects with repeated audiograms were used for longitudinal analysis. INTERVENTIONS: All audiological thresholds were run through the web-based AudioGene v4.0 software. MAIN OUTCOME MEASURES: Sensitivity for accurate prediction of DFNA9 for cross-sectional data and concordance of correct prediction for longitudinal auditory data. RESULTS: DFNA9 was predicted with a sensitivity of 93.7% in a series of 222 cross-sectionally collected audiological thresholds (76.1% as first gene locus). When using the hearing thresholds of the best ear, the sensitivity was 94.6%. The sensitivity was significantly higher in DFNA9 patients aged younger than 40 and aged 60 years or older, compared to the age group of 40 to 59 years, with resp. 97.6% (pâ<â0.0001) and 98.8% (pâ<â0.0001) accurate predictions. An average concordance of 91.6% was found to show the same response in all successive longitudinal audiometric data per patient. CONCLUSIONS: Audioprofiling software can accurately predict DFNA9 in an area with a high prevalence of confirmed carriers of the p.(Pro51Ser) variant in the COCH-gene. This algorithm yields high promises for helping clinicians in directing genetic testing in case of a strong family history of progressive hearing loss, especially for very young and old carriers.
Asunto(s)
Proteínas de la Matriz Extracelular , Pérdida Auditiva Sensorineural , Adulto , Estudios Transversales , Proteínas de la Matriz Extracelular/genética , Heterocigoto , Humanos , Aprendizaje Automático , Persona de Mediana EdadRESUMEN
OBJECTIVE: Identify clinical screening tests to proficiently screen for patients with vestibular disorders. STUDY DESIGN: Retrospective case-control study. SETTING: Tertiary referral center. PATIENTS: 318 healthy individuals and 331 subjects with vestibular disorders. INTERVENTIONS: All subjects performed Romberg and Jendrassic maneuver with eyes closed (ROMJec), standing on foam with eyes open (SOFeo) and eyes closed (SOFec), Tandem Romberg with eyes open (TReo) and eyes closed (TRec), single leg stance with eyes open (SLSeo) and eyes closed (SLSec), Tandem gait (TG) and Timed Up and Go (TUG). MAIN OUTCOME MEASURES: Significant differences in performance on the balance tests. RESULTS: For the age-group <40 years, TUG >6âseconds (OR 102.4; p <0.0001) and SLSec <30âseconds (OR 48.0; p <0.0001) proved to be the most predictive combination of testing (AUC 0.9; LR+ 15.8; LR- 0.2), with a positive predictive value (PPV) of 88.4%. For the age-group 40-60, TUG >7âseconds (OR 4.0; pâ=â0.0107) and TRec <30âseconds (OR 63.1; pâ<â0.0001) was the most predictive combination of tests (AUC 0.9 LR+ 6.0; LR- 0.1), with a PPV of 93.8%. For the age-group >60 the combination of TUG >8âseconds (OR 17.4; pâ<â0.0001) and SOFec <30âseconds (OR 10.4; pâ<â0.0001) was the most predictive (AUC 0.9 LR+ 6.3; LR- 0.2), with a PPV of 84.8%. CONCLUSIONS: Combinations of clinical tests are proposed to promptly screen for vestibular disorders in specific age groups. To interpret the results for the individual patient, the physician must take the history and the general examination into consideration.
Asunto(s)
Equilibrio Postural , Enfermedades Vestibulares , Adulto , Estudios de Casos y Controles , Marcha , Humanos , Estudios Retrospectivos , Enfermedades Vestibulares/diagnósticoRESUMEN
AIM: Cardiac arrest is a common complication of ST elevation myocardial infarction and is associated with high mortality. We evaluated whether vulnerability to cardiac arrest follows a circadian rhythm and whether it is related to specific patient characteristics. METHODS: A total of 24,164 ST elevation myocardial infarction patients who were admitted to 60 Belgian hospitals between 2008-2017 were analysed. The proportion of patients with cardiac arrest before initiation of reperfusion therapy was calculated for different time periods (hour of the day, months, seasons) and related to patient characteristics using stepwise logistic regression analysis. RESULTS: Cardiac arrest occurred in 10.8% of the ST elevation myocardial infarction patients at a median of 65 min (interquartile range 33-138 min) after onset of pain. ST elevation myocardial infarction patients with cardiac arrest showed a biphasic pattern with one peak in the morning and one peak in the late afternoon. Multivariate analysis identified the following independent factors associated with cardiac arrest: cardiogenic shock (odds ratio=28), left bundle branch block (odds ratio=3.7), short (<180 min) ischaemic period (odds ratio=2.2), post-meridiem daytime presentation (odds ratio=1.4), anterior infarction (odds ratio=1.3). Overall in-hospital mortality was 30% for cardiac arrest patients versus 3.7% for non-cardiac arrest patients (p<0.0001). CONCLUSION: In the present study population, cardiac arrest in ST elevation myocardial infarction showed an atypical circadian rhythm with not only a morning peak but also a second peak in the late afternoon, suggesting that cardiac arrest and ST elevation myocardial infarction triggers are, at least partially, different. In addition, specific patient characteristics, such as short ischaemic period, cardiogenic shock and left bundle branch block, increase the vulnerability to cardiac arrest.