Hearing problems in patients with hereditary gelsolin amyloidosis

Publisher Copyright: © 2021, The Author(s).Background: Gelsolin amyloidosis (AGel amyloidosis) is a hereditary form of systemic amyloidosis featuring ophthalmological, neurological and cutaneous symptoms. Previous studies based mainly on patients’ self-reporting have indicated that hearing impairment might also be related to the disease, considering the progressive cranial neuropathy characteristic for AGel amyloidosis. In order to deepen the knowledge of possible AGel amyloidosis-related hearing problems, a clinical study consisting of the Speech, Spatial and Qualities of Hearing Scale (SSQ) questionnaire, clinical examination, automated pure-tone audiometry and a speech-in-noise test was designed. Results: Of the total 46 patients included in the study, eighteen (39%) had self-reported hearing loss. The mean scores in the SSQ were 8.2, 8.3 and 8.6 for the Speech, Spatial and Qualities subscales, respectively. In audiometry, the mean pure tone average (PTA) was 17.1 (SD 12.2) and 17.1 (SD 12.3) dB HL for the right and left ears, respectively, with no difference to gender- and age-matched, otologically normal reference values. The average speech reception threshold in noise (SRT) was − 8.2 (SD 1.5) and − 8.0 (SD 1.7) dB SNR for the right and left ears, respectively, which did not differ from a control group with a comparable range in PTA thresholds. Conclusion: Although a significant proportion of AGel amyloidosis patients experience subjective difficulties in hearing there seems to be no peripheral or central hearing impairment at least in patients up to the age of 60 years.Peer reviewe

Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study

Abstract Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. We sent an updated questionnaire concerning the symptoms and signs, symptomatic treatments and subjective perception on disease progression to 240 members of the Finnish Amyloidosis Association (SAMY). We analyzed the lifespan of 478 patients using the relative survival (RS) framework. Results The updated FIN-GAR registry includes 261 patients. Symptoms and signs corresponding to the classical triad of ophthalmological (dry eyes in 93%; corneal lattice amyloidosis in 89%), neurological (numbness, tingling and other paresthesias in 75%; facial paresis in 67%), and dermatological (drooping eyelids in 86%; cutis laxa in 84%) manifestations were highly prevalent. Cardiac arrhythmias were reported by 15% of the patients and 5% had a cardiac pacemaker installed. Proteinuria was reported by 13% and renal failure by 5% of the patients. A total of 65% of the patients had undergone a skin or soft tissue surgery, 26% carpal tunnel surgery and 24% at least unilateral cataract surgery. As regards life span, relative survival estimates exceeded 1 for males and females until the age group of 70–74 years, for which it was 0.96. Conclusions AGel amyloidosis causes a wide variety of ophthalmological, neurological, cutaneous, and oral symptoms that together with repeated surgeries cause a clinically significant disease burden. Severe renal and cardiac manifestations are rare as compared to other systemic amyloidoses, explaining in part the finding that AGel amyloidosis does not shorten the life span of the patients at least for the first 75 years

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

Gelsolin (AGel) amyloidosis is a hereditary condition with common neurological effects. Myocardial involvement, especially strain, T1, or extracellular volume (ECV), in this disease has not been investigated before. Local myocardial effects and possible amyloid accumulation were the targets of interest in this study. Fifty patients with AGel amyloidosis were enrolled in the study. All patients underwent cardiovascular magnetic resonance imaging, including cine imaging, T1 mapping, tagging, and late gadolinium enhancement (LGE) imaging at 1.5 T. Results for volumetry, myocardial feature-tracking strain, rotation, torsion, native T1, ECV, and LGE were investigated. The population mean native T1 values in different segments of the left ventricle (LV) varied between 1003 and 1080 ms. Myocardial mean T1 was 1031 ± 37 ms. T1 was highest in the basal plane of the LV (1055 ± 40 ms), similarly to ECV (30.0% ± 4.4%). ECV correlated with native T1 in all LV segments (p Peer reviewe

Risk Factors for Excessive Social Media Use Differ from Those of Gambling and Gaming in Finnish Youth

Purpose: Adolescents' excessive social media use has characteristics similar to other addictive behaviours. This study aims to explore whether the same risk factors are associated with excessive social media use as with excessive gaming and gambling among Finnish adolescents. Methods: Multinomial logistic regression analyses were carried out using the European School Survey Project on Alcohol and Other Drugs data, collected from Finnish adolescents aged 15-16 in 2019 (n = 4595). Results: Excessive use of social media was more common among girls (reported by 46% of respondents) than boys of the same age (28%), whereas boys reported both excessive gaming (23%) and gambling (6%) more often than girls (4% and 1%, respectively). All differences between genders were statistically significant (p < 0.0001). Daily smoking was associated with a high risk of excessive gambling (AOR = 3.23) and low risk of excessive gaming (AOR = 0.27) but had no significant effect on excessive social media use. Cannabis use in the past 12 months was positively associated only with excessive gambling (AOR = 2.39), while past 12 months alcohol consumption increased the risk for excessive social media use (AOR = 1.25). Conclusions: Adolescent girls are at greater risk of excessive social media use than boys, while boys are at greater risk of excessive gaming and gambling. The associations with known risk factors are somewhat different for excessive use of social media as compared to excessive gambling and gaming and should be acknowledged when developing preventive measures for adolescents.Peer reviewe

Cardiac manifestations in Finnish gelsolin amyloidosis patients

Introduction Finnish gelsolin amyloidosis (AGel amyloidosis) is an inherited systemic amyloidosis with well-known ophthalmological, neurological and cutaneous symptoms. Additionally, cardiomyopathies, conduction disorders and need of cardiac pacemakers occur in some patients. This study focuses on electrocardiographic (ECG) findings in AGel amyloidosis and their relation to cardiac magnetic resonance (CMR) changes. We also assessed whether ECG abnormalities were associated with pacemaker implantation and mortality. Materials and methods In this cohort study, 51 genetically verified AGel amyloidosis patients (mean age 66 years) without cardiac pacemakers underwent 12-lead ECG and CMR imaging with contrast agent in 2017. Patients were followed-up for 3 years. Results Conduction disturbances were found in 22 patients (43%). Nine (18%) presented with first-degree atrioventricular block, six (12%) with left anterior hemiblock, seven (14%) with left or right bundle branch block and two (4%) with non-specific intraventricular conduction delay. Low QRS voltage was present in two (4%) patients. Late gadolinium enhancement (LGE) concentrating on the interventricular septum and inferior parts of the heart was present in 19 (86%) patients with conduction abnormalities. During the follow-up, only one patient received a pacemaker, and one patient died. Discussion Conduction disorders and septal LGE are common in AGel amyloidosis, whereas other ECG and CMR findings typically observed in most common cardiac amyloidosis types were rare. Septal pathology seen in CMR may interfere with the cardiac conduction system in AGel amyloidosis, explaining conduction disorders, although pacemaker therapy is rarely required.Peer reviewe

Comparison of explicit vs. implicit measurements in predicting food purchases

In this study, we aimed to investigate the relation between consumer purchases of three branded blueberry flavored quarks and respective responses of the same consumers to these products using 1) traditional explicit consumer surveys measuring verbalized impressions, 2) novel explicit pictorial emoji scores and 3) implicit behavioral responses produced during an approach-avoidance task (AAT). Explicit measures (n=134) were collected before product tasting (expectation condition) during an online survey, and after product tasting (perception condition) during a Central Location Test (CLT). Implicit measures were collected with a subset of 56 randomly selected subjects during the CLT. These included electroencephalographic (EEG) measures, joystick response speed and pupil size responses. During one month following the CLT, respondents registered their purchases via an online diary. Bivariate correlations indicated that explicit scores correlate better with product purchase amounts in the perception condition than in the expectation condition. Furthermore, verbalized ratings correlated better with product purchase amounts than pictorial emoji scores. Of the implicit responses, EEG responses produced the strongest correlations with purchase behavior, similar to those observed for verbalized explicit ratings in the expectation condition. Multiple linear regression modelling indicated that the best-fitting model consisted of an emoji score, purchase intention score, pleasantness score, brand relationship score, and implicit joystick response speed. Overall, purchase behavior was associated stronger with explicit responses than with implicit responses. Yet, the prominent role of implicit joystick response speed in the multivariate regression model suggests its unique contribution to the understanding of purchase behavior.Peer reviewe

Proceedings of the 16th Weurman Flavour Research Symposium

Oats are increasingly popular due to their healthiness, and the number of new different types of oat products on the market is constantly increasing. Oats have higher content of lipids compared to many other grains and therefore their quality and volatile compound profile is susceptible to changes. In this study, selected oat samples were investigated using HS-SPME-GC-O panel and trained sensory panel in order to identify the compounds contributing to the odour characteristics. GC-O panel was trained to describe odours and to evaluate odour intensities of oat samples as flour-water mixtures. The odour and flavour characteristics of the same oat samples were characterised using a sensory panel using generic descriptive analysis. The GC-O panel detected 30 odour-active compounds. The most often described compounds were aldehydes, such as hexanal described as ‘green’ and ‘grassy’, or 3-methylbutanal described as ‘chemical’ and ‘pungent’. At the same time, little differences were observed in ‘green odour’ by the sensory panel, whereas more differences were observed in bitter taste and odour and flavour intensities. </p

Sydänamyloidoosi

English summaryPeer reviewe

Food Fortification Using Spray-Dried Emulsions of Fish Oil Produced with Maltodextrin, Plant and Whey Proteins - Effect on Sensory Perception, Volatiles and Storage Stability

Fortification of foods with fish oil rich in n–3 fatty acids improves the nutritional value, but creates challenges with flavor and oxidative stability, especially during storage. Pea, soy, and sunflower proteins were used in combination with whey protein or maltodextrin to encapsulate fish oil by spray-drying. The use of whey protein compared with maltodextrin as wall material improved oxidative stability of spray-dried emulsions, although the use of whey protein increased the number of observed cracks in outer shell of the particles. Non- and encapsulated oil were used in cookies and chocolates to examine flavor characteristics by generic descriptive analysis and volatile products by solid-phase microextraction with gas chromatography-mass spectrometry. A long-term storage test at room temperature was conducted to evaluate the oxidative stability of the food models. Fortification changed the texture, odor, and flavor of the food models with fishy flavor being the most impactful attribute. For both food models, use of pea protein with maltodextrin resembled attributes of control the best. Fortification and encapsulation material also affected volatile profiles of food models. Both non-encapsulated oil and whey protein formulations performed well in regard to oxidative stability for both food models. Generally, the cookie model showed more potential for fortification than the chocolate one.</p