scholarly journals Ocular Motor Abnormalities in Anti-IgLON5 Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Stefan Macher ◽  
Ivan Milenkovic ◽  
Tobias Zrzavy ◽  
Romana Höftberger ◽  
Stefan Seidel ◽  
...  
Keyword(s):  
Neurodegenerative Diseases ◽  
Small Sample Size ◽  
Sampling Rate ◽  
Vestibular Function ◽  
Small Sample ◽  
Ocular Motor ◽  
Therapeutic Implications ◽  
Saccade Velocity ◽  
Motor Abnormalities ◽  
Oculomotor Function

ObjectiveAnti-IgLON5 disease forms an interface between neuroinflammation and neurodegeneration and includes clinical phenotypes that are often similar to those of neurodegenerative diseases. An early diagnosis of patients with anti-IgLON5 disease and differentiation from neurodegenerative diseases is necessary and may have therapeutic implications.MethodsIn our small sample size study we investigated oculomotor function as a differentiating factor between anti-IgLON5 disease and neurodegenerative disorders. We examined ocular motor and vestibular function in four patients suffering from anti-IgLON5 disease using video-oculography (VOG) and a computer-controlled rotational chair system (sampling rate 60 Hz) and compared the data with those from ten age-matched patients suffering from progressive supranuclear palsy (PSP) and healthy controls (CON).ResultsPatients suffering from anti-IgLON5 disease differed from PSP most strikingly in terms of saccade velocity and accuracy, the presence of square wave jerks (SWJ) (anti-IgLON5 0/4 vs. PSP 9/10) and the clinical finding of supranuclear gaze palsy (anti-IgLON5 1/4). The presence of nystagmus, analysis of smooth pursuit eye movements, VOR and VOR suppression was reliable to differentiate between the two disease entities. Clear differences in all parameters, although not always significant, were found between all patients and CON.DiscussionWe conclude that the use of VOG as a tool for clinical neurophysiological assessment can be helpful in differentiating between patients with PSP and patients with anti-IgLON5 disease. VOG could have particular value in patients with suspected PSP and lack of typical Parkinson’s characteristics. future trials are indispensable to assess the potential of oculomotor function as a biomarker in anti-IgLON5 disease.

Landscape of lung cancer molecular biology in a NON-selected population.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e20648-e20648
Author(s):  
Rosa Ana Marcos ◽  
Jaime Ceballos ◽  
Elena Filipovich ◽  
Jose Maria Mazarico ◽  
Raquel Tur ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Small Sample Size ◽  
Progression Free Survival ◽  
Molecular Study ◽  
Small Sample ◽  
Egfr Mutations ◽  
Therapeutic Implications ◽  
Molecular Alterations ◽  
Caucasian Patients ◽  
Exon 20

e20648 Background: The molecular study of non-small cell lung cancer (NSCLC) allows for targeted treatment. EGFR and ALK alterations have been observed in 14% and 5% of Caucasian patients (p) respectively. These alterations are mainly detected in women with adenocarcinoma (ADC) and non-smokers. In a non-selected (all comers) NSCLC population from Ávila (Spain) we found a different profile. Methods: We collected data from 185 consecutive p the Pathology Department database of Hospital Nuestra Señora de Sonsoles from 2012 to 2017. All p were tested for EGFR and ALK. Analyses were done with Cobas or Therascreen tests. Results: EGFR mutations were found in 11 p out of 185 (6.7%). Histology was ADC in 8 p (72.7%) and squamous cell carcinoma (SC) in 3 p (27.3%). Male (m) & smokers: 4/11 (36,4%). The type of mutation was: Exon 20: 3 p (27.3%). 2 m and 1 female (f). 2 smokers and 1 former smoker. 2 ADC and 1 SC; Del 19: 4 p (36.4%). 1 m and 3 f. 1 non-smoker, 2 former smokers and 1 smoker. 3 ADC and 1 SC; Exon 21: 4 p (36,4%). 2 m and 2 f. 3 non-smokers and 1 smoker. 3 ADC and 1 SC. All p. received treatment with 1st generation anti-EGFR drugs for a median 6.4 months (m). Progression Free Survival was 6.39 m (exon 20: 5.1 m; Del 19: 6.5 m; exon 21: 7.2 m). Overall survival was 18.0 m (exon 20: 26.1 m; Del 19: 18.2 m; exon 21: 11.8 m). ALK translocation was found in 5 p out of 158 (3.2%). Histology was ADC in 3 p (60%) (all f, 2 non-smokers and 1 former smoker) and SC in 2 p (40%) (2 smoker m.) Conclusions: Although the small sample size prevents definitive conclusions, EGFR mutations in exon 20 are more frequent in smokers and mutations in exon 21 in non-smoking patients with ADC. ALK translocation was observed independent of sex, tobacco or histologic type. For EGFR and ALK alterations, screening based on sex or pathology would have missed findings with therapeutic implications. We conclude it is important to extend the analysis of molecular alterations to all patients with NSCLC since more of them could benefit from targeted drugs.[Table: see text]

scholarly journals Comparison of cerebrospinal fluid biomarkers relevant to neurodegenerative diseases in healthy cynomolgus and rhesus macaque monkeys

2021 ◽  
Author(s):  
Emma L. Robertson ◽  
Susan E. Boehnke ◽  
Natalia M. Lyra e Silva ◽  
Brittney Armitage-Brown ◽  
Andrew Winterborn ◽  
...  
Keyword(s):  
Neurodegenerative Diseases ◽  
Rhesus Macaque ◽  
Rhesus Macaques ◽  
Small Sample Size ◽  
Small Sample ◽  
Normative Values ◽  
Csf Biomarkers ◽  
List Type ◽  
Neurofilament Light ◽  
Macaque Monkeys

Structured AbstractINTRODUCTIONNon-human primates are important translational models of neurodegenerative disease. We characterized how species, sex, age, and site of sampling affected concentrations of key biomarkers of neurodegeneration.METHODSAmyloid-beta (Aβ40, Aβ42), tau (tTau, pTau), and neurofilament light (NFL) in CSF were measured in 82 laboratory-housed naïve cynomolgus and rhesus macaques of both sexes.RESULTSAβ40, Aβ42, and NFL were significantly higher in rhesus compared with cynomolgus macaques. tTau and NFL were higher in males. pTau was not affected by species or sex. Site of acquisition only affected NFL, with NFL being higher in CSF acquired from lumbar compared with cisterna magna puncture.DISCUSSIONNormative values for key neurodegeneration biomarkers were established for laboratory housed cynomolgus and rhesus macaque monkeys. Differences were observed as a function of species, sex and site of CSF acquisition that should be considered when employing primate models.Research In ContextSystematic review: We reviewed reports characterizing CSF biomarkers of neurodegenerative diseases in non-human primates – an increasingly important model of disease - revealing that studies with laboratory housed macaque monkeys were of small sample size, with a paucity of data about how biomarkers varied as a function of species, sex, age, and site of acquisition.Interpretation: To address this gap, we collected CSF from 82 naïve laboratory housed male and female macaques of two species and measured Aβ40, Aβ42, tTau, pTau, and NFL. In addition to providing normative statistics for concentrations of these biomarkers, we revealed various species and sex differences.Future directions: Establishing normative values of biomarkers is an important step to the efficient development of cynomolgus and rhesus macaques as models of neurodegenerative disorders such as Alzheimer’s disease. Reference values reduce the need for large control groups by which to compare with disease model animals.

scholarly journals The Smart Aging Platform for Assessing Early Phases of Cognitive Impairment in Patients With Neurodegenerative Diseases

2021 ◽  
Vol 12 ◽  
Author(s):  
Sara Bottiroli ◽  
Sara Bernini ◽  
Elena Cavallini ◽  
Elena Sinforiani ◽  
Chiara Zucchella ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Neurodegenerative Diseases ◽  
Small Sample Size ◽  
Small Sample ◽  
Single Domain ◽  
Assessment Tools ◽  
Healthy Older Adults ◽  
Familiar Environment ◽  
Neuropsychological Assessments ◽  
Time Distance

Background: Smart Aging is a serious game (SG) platform that generates a 3D virtual reality environment in which users perform a set of screening tasks designed to allow evaluation of global cognition. Each task replicates activities of daily living performed in a familiar environment. The main goal of the present study was to ascertain whether Smart Aging could differentiate between different types and levels of cognitive impairment in patients with neurodegenerative disease.Methods: Ninety-one subjects (mean age = 70.29 ± 7.70 years)—healthy older adults (HCs, n = 23), patients with single-domain amnesic mild cognitive impairment (aMCI, n = 23), patients with single-domain executive Parkinson's disease MCI (PD-MCI, n = 20), and patients with mild Alzheimer's disease (mild AD, n = 25)—were enrolled in the study. All participants underwent cognitive evaluations performed using both traditional neuropsychological assessment tools, including the Mini-Mental State Examination (MMSE), Montreal Overall Cognitive Assessment (MoCA), and the Smart Aging platform. We analyzed global scores on Smart Aging indices (i.e., accuracy, time, distance) as well as the Smart Aging total score, looking for differences between the four groups.Results: The findings revealed significant between-group differences in all the Smart Aging indices: accuracy (p < 0.001), time (p < 0.001), distance (p < 0.001), and total Smart Aging score (p < 0.001). The HCs outperformed the mild AD, aMCI, and PD-MCI patients in terms of accuracy, time, distance, and Smart Aging total score. In addition, the mild AD group was outperformed both by the HCs and by the aMCI and PD-MCI patients on accuracy and distance. No significant differences were found between aMCI and PD-MCI patients. Finally, the Smart Aging scores significantly correlated with the results of the neuropsychological assessments used.Conclusion: These findings, although preliminary due to the small sample size, suggest the validity of Smart Aging as a screening tool for the detection of cognitive impairment in patients with neurodegenerative diseases.

Probing the ultrastructure of the mitotic and meiotic spindle in eggs: An expeditious approach based on semi-thin (0.25 μm) serial sections

1983 ◽  
Vol 41 ◽  
pp. 552-555
Author(s):  
Conly L. Rieder ◽  
S. Bowser ◽  
R. Nowogrodzki ◽  
K. Ross ◽  
G. Sluder
Keyword(s):  
Small Sample Size ◽  
Small Sample ◽  
Meiotic Spindle ◽  
Serial Sections ◽  
Mitotic Apparatus ◽  
Thin Sections ◽  
Cell Cycles ◽  
Ultrastructural Studies

Eggs have long been a favorite material for studying the mechanism of karyokinesis in-vivo and in-vitro. They can be obtained in great numbers and, when fertilized, divide synchronously over many cell cycles. However, they are not considered to be a practical system for ultrastructural studies on the mitotic apparatus (MA) for several reasons, the most obvious of which is that sectioning them is a formidable task: over 1000 ultra-thin sections need to be cut from a single 80-100 μm diameter egg and of these sections only a small percentage will contain the area or structure of interest. Thus it is difficult and time consuming to obtain reliable ultrastructural data concerning the MA of eggs; and when it is obtained it is necessarily based on a small sample size.We have recently developed a procedure which will facilitate many studies concerned with the ultrastructure of the MA in eggs. It is based on the availability of biological HVEM's and on the observation that 0.25 μm thick serial sections can be screened at high resolution for content (after mounting on slot grids and staining with uranyl and lead) by phase contrast light microscopy (LM; Figs 1-2).

Validating the Factor Structure of the Stigma of Suicide Scale–Short Form Spanish Version Among Healthcare Students

Crisis ◽  
2020 ◽  
pp. 1-5
Author(s):  
Ruthmarie Hernández-Torres ◽  
Paola Carminelli-Corretjer ◽  
Nelmit Tollinchi-Natali ◽  
Ernesto Rosario-Hernández ◽  
Yovanska Duarté-Vélez ◽  
...  
Keyword(s):  
Factor Structure ◽  
Structural Equation ◽  
Short Form ◽  
Small Sample Size ◽  
Small Sample ◽  
Spanish Version ◽  
Equation Modeling ◽  
Cross Sectional ◽  
Healthcare Students ◽  
Spanish Speaking

Abstract. Background: Suicide is a leading cause of death among Spanish-speaking individuals. Suicide stigma can be a risk factor for suicide. A widely used measure is the Stigma of Suicide Scale-Short Form (SOSS-SF; Batterham, Calear, & Christensen, 2013 ). Although the SOSS-SF has established psychometric properties and factor structure in other languages and cultural contexts, no evidence is available from Spanish-speaking populations. Aim: This study aims to validate a Spanish translation of the SOSS-SF among a sample of Spanish-speaking healthcare students ( N = 277). Method: We implemented a cross-sectional design with quantitative techniques. Results: Following a structural equation modeling approach, a confirmatory factor analysis (CFA) supported the three-factor model proposed by Batterham and colleagues (2013) . Limitations: The study was limited by the small sample size and recruitment by availability. Conclusion: Findings suggest that the Spanish version of the SOSS-SF is a valid and reliable tool with which to examine suicide stigma among Spanish-speaking populations.

An Initial Investigation of Suicide Attempt Disclosures Among US Veterans

Crisis ◽  
2020 ◽  
pp. 1-7
Author(s):  
Brooke A. Ammerman ◽  
Sarah P. Carter ◽  
Heather M. Gebhardt ◽  
Jonathan Buchholz ◽  
Mark A. Reger
Keyword(s):  
Suicide Attempt ◽  
Mental Health Professionals ◽  
Help Seeking ◽  
Psychiatric Treatment ◽  
Small Sample Size ◽  
Romantic Partners ◽  
Small Sample ◽  
Professional Care ◽  
Patient Disclosure ◽  
Previous Suicide Attempt

Abstract. Background: Patient disclosure of prior suicidal behaviors is critical for effectively managing suicide risk; however, many attempts go undisclosed. Aims: The current study explored how responses following a suicide attempt disclosure may relate to help-seeking outcomes. Method: Participants included 37 veterans with a previous suicide attempt receiving inpatient psychiatric treatment. Veterans reported on their most and least helpful experiences disclosing their suicide attempt to others. Results: Veterans disclosed their suicide attempt to approximately eight individuals. Mental health professionals were the most cited recipient of their most helpful disclosure; romantic partners were the most common recipient of their least helpful disclosures. Positive reactions within the context of the least helpful disclosure experience were positively associated with a sense of connection with the disclosure recipient. Positive reactions within the most helpful disclosure experience were positively associated with the likelihood of future disclosure. No reactions were associated with having sought professional care or likelihood of seeking professional care. Limitations: The results are considered preliminary due to the small sample size. Conclusion: Findings suggest that while positive reactions may influence suicide attempt disclosure experiences broadly, additional research is needed to clarify factors that drive the decision to disclose a suicide attempt to a professional.

Investigating the Dynamics of Suicidal Ideation

Crisis ◽  
2018 ◽  
Vol 39 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Nina Hallensleben ◽  
Lena Spangenberg ◽  
Thomas Forkmann ◽  
Dajana Rath ◽  
Ulrich Hegerl ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Small Sample Size ◽  
Unipolar Depression ◽  
Small Sample ◽  
History Of ◽  
Severity Of Depression ◽  
Ecological Momentary ◽  
Depressive Episodes ◽  
Ema Method ◽  
Shed Light

Abstract. Background: Although the fluctuating nature of suicidal ideation (SI) has been described previously, longitudinal studies investigating the dynamics of SI are scarce. Aim: To demonstrate the fluctuation of SI across 6 days and up to 60 measurement points using smartphone-based ecological momentary assessments (EMA). Method: Twenty inpatients with unipolar depression and current and/or lifetime suicidal ideation rated their momentary SI 10 times per day over a 6-day period. Mean squared successive difference (MSSD) was calculated as a measure of variability. Correlations of MSSD with severity of depression, number of previous depressive episodes, and history of suicidal behavior were examined. Results: Individual trajectories of SI are shown to illustrate fluctuation. MSSD values ranged from 0.2 to 21.7. No significant correlations of MSSD with several clinical parameters were found, but there are hints of associations between fluctuation of SI and severity of depression and suicidality. Limitations: Main limitation of this study is the small sample size leading to low power and probably missing potential effects. Further research with larger samples is necessary to shed light on the dynamics of SI. Conclusion: The results illustrate the dynamic nature and the diversity of trajectories of SI across 6 days in psychiatric inpatients with unipolar depression. Prediction of the fluctuation of SI might be of high clinical relevance. Further research using EMA and sophisticated analyses with larger samples is necessary to shed light on the dynamics of SI.

Participant Reactions to Suicide-Focused Research

Crisis ◽  
2020 ◽  
Vol 41 (5) ◽  
pp. 367-374
Author(s):  
Sarah P. Carter ◽  
Brooke A. Ammerman ◽  
Heather M. Gebhardt ◽  
Jonathan Buchholz ◽  
Mark A. Reger
Keyword(s):  
Medical Records ◽  
Research Study ◽  
Small Sample Size ◽  
Psychiatric Inpatient ◽  
Small Sample ◽  
Inpatient Unit ◽  
Online Laboratory ◽  
Psychiatric Inpatient Unit ◽  
Before And After ◽  
Participant Reactions

Abstract. Background: Concerns exist regarding the perceived risks of conducting suicide-focused research among an acutely distressed population. Aims: The current study assessed changes in participant distress before and after participation in a suicide-focused research study conducted on a psychiatric inpatient unit. Method: Participants included 37 veterans who were receiving treatment on a psychiatric inpatient unit and completed a survey-based research study focused on suicide-related behaviors and experiences. Results: Participants reported no significant changes in self-reported distress. The majority of participants reported unchanged or decreased distress. Reviews of electronic medical records revealed no behavioral dysregulation and minimal use of as-needed medications or changes in mood following participation. Limitations: The study's small sample size and veteran population may limit generalizability. Conclusion: Findings add to research conducted across a variety of settings (i.e., outpatient, online, laboratory), indicating that participating in suicide-focused research is not significantly associated with increased distress or suicide risk.

Measurements method of the audio recordings acoustic quality indicator prepared for registration and processing in the Unified Biometric System

2019 ◽  
pp. 40-46 ◽  
Author(s):  
V.V. Savchenko ◽  
A.V. Savchenko
Keyword(s):  
Quality Control ◽  
Small Sample Size ◽  
Personal Data ◽  
Digital Processing ◽  
Small Sample ◽  
Practical Implementation ◽  
Acoustic Measurements ◽  
Pitch Frequency ◽  
Wide Range ◽  
Automated Quality Control

We consider the task of automated quality control of sound recordings containing voice samples of individuals. It is shown that in this task the most acute is the small sample size. In order to overcome this problem, we propose the novel method of acoustic measurements based on relative stability of the pitch frequency within a voice sample of short duration. An example of its practical implementation using aninter-periodic accumulation of a speech signal is considered. An experimental study with specially developed software provides statistical estimates of the effectiveness of the proposed method in noisy environments. It is shown that this method rejects the audio recording as unsuitable for a voice biometric identification with a probability of 0,95 or more for a signal to noise ratio below 15 dB. The obtained results are intended for use in the development of new and modifying existing systems of collecting and automated quality control of biometric personal data. The article is intended for a wide range of specialists in the field of acoustic measurements and digital processing of speech signals, as well as for practitioners who organize the work of authorized organizations in preparing for registration samples of biometric personal data.

A randomized, double-blind, placebo-controlled study of polyunsaturated fatty acids efficacy in adolescents with anorexia nervosa

2020 ◽  
Vol 36 (2) ◽  
pp. 95-106
Author(s):  
Agnieszka M. Piróg-Balcerzak ◽  
Anna K. Bażyńska ◽  
Katarzyna Biernacka ◽  
Joanna Brągoszewska ◽  
Lidia Popek ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Anorexia Nervosa ◽  
Polyunsaturated Fatty Acids ◽  
Small Sample Size ◽  
Small Sample ◽  
Female Adolescent ◽  
Eating Attitude ◽  
Controlled Study ◽  
Omega 3 ◽  
Eat 26

Objective. Omega–3 polyunsaturated fatty acids (PUFAs) were tested in adolescent depression and in several neurodevelopmental disorders with partial success. Anorexia nervosa (AN) is characterised by deficiencies in fatty food intake and frequent comorbidity, including depressive and cognitive symptoms. Thus supplementation with PUFAs may be beneficial in this group of patients. The aim of the study was to assess whether PUFAs as an add-on treatment is associated with better improvement of body mass index (BMI) and psychopathological symptoms than placebo in patients with AN. Method. 61 female adolescent inpatients with AN were randomly allocated to omega–3 PUFAs supplementation or placebo for 10 weeks. Patients also participated in the behavioural programme and eclectic psychotherapy (treatment as usual, TAU). At baseline and follow-up visits, patients’ BMI and psychopathology were assessed with Clinical Global Impression Scale (CGI), Patient Global Impression Scale (PGI), and Eating Attitude Test (EAT-26). Results. After 10 weeks, both groups showed improvement in all parameters. Improvement in CGI scores was observed greater in placebo vs. PUFA-s group (p = 0.015) while other differences were not statistically significant. Omega–3 PUFAs supplementation appears not to be effective as an add-on treatment in inpatient adolescent girls with anorexia nervosa. Conclusions. The results should be analysed with caution due to small sample size and heterogeneity in TAU. As the TAU turned out to be highly effective, additional therapeutic effect of PUFA might not be visible. Nevertheless, that does not explain the tendency for better improvement in the placebo group.

Sign in / Sign up

Export Citation Format

Share Document