Essential tremor: genetic update

2019 ◽  
Vol 21 ◽  
Author(s):  
Hao Deng ◽  
Shan Wu ◽  
Joseph Jankovic
Keyword(s):  
Essential Tremor ◽  
Animal Studies ◽  
Genetic Factors ◽  
Small Sample Size ◽  
Small Sample ◽  
Lower Limbs ◽  
Body Parts ◽  
Genetic Analyses ◽  
Disease Definition ◽  
Neurological Movement Disorder

Abstract Essential tremor (ET) is a neurological movement disorder characterised by bilateral limb kinetic/postural tremor, with or without tremor in other body parts including head, voice and lower limbs. Since no causative genes for ET have been identified, it is likely that the disorder occurs as a result of complex genetic factors interacting with various cellular and environmental factors that can result in abnormal function of circuitry involving the cerebello–thalamo–cortical pathway. Genetic analyses have uncovered at least 14 loci and 11 genes that are related to ET, as well as various risk or protective genetic factors. Limitations in ET genetic analyses include inconsistent disease definition, small sample size, varied ethnic backgrounds and many other factors that may contribute to paucity of relevant genetic data in ET. Genetic analyses, coupled with functional and animal studies, have led to better insights into possible pathogenic mechanisms underlying ET. These genetic studies may guide the future development of genetic testing and counselling, and specific, pathogenesis-targeted, therapeutic strategies.

The similiarity of facial expressions in response to emotion-inducing films in reared-apart twins

2007 ◽  
Vol 38 (10) ◽  
pp. 1475-1483 ◽  
Author(s):  
K. S. Kendler ◽  
L. J. Halberstadt ◽  
F. Butera ◽  
J. Myers ◽  
T. Bouchard ◽  
...  
Keyword(s):  
Facial Expressions ◽  
Positive Emotions ◽  
Genetic Factors ◽  
Small Sample Size ◽  
Small Sample ◽  
Self Report ◽  
Emotional Expressions ◽  
Emotional Facial Expressions ◽  
Minimal Contact

BackgroundWhile the role of genetic factors in self-report measures of emotion has been frequently studied, we know little about the degree to which genetic factors influence emotional facial expressions.MethodTwenty-eight pairs of monozygotic (MZ) and dizygotic (DZ) twins from the Minnesota Study of Twins Reared Apart were shown three emotion-inducing films and their facial responses recorded. These recordings were blindly scored by trained raters. Ranked correlations between twins were calculated controlling for age and sex.ResultsTwin pairs were significantly correlated for facial expressions of general positive emotions, happiness, surprise and anger, but not for general negative emotions, sadness, or disgust or average emotional intensity. MZ pairs (n=18) were more correlated than DZ pairs (n=10) for most but not all emotional expressions.ConclusionsSince these twin pairs had minimal contact with each other prior to testing, these results support significant genetic effects on the facial display of at least some human emotions in response to standardized stimuli. The small sample size resulted in estimated twin correlations with very wide confidence intervals.

scholarly journals Allowing Intralimb Kinematic Variability During Locomotor Training Poststroke Improves Kinematic Consistency: A Subgroup Analysis From a Randomized Clinical Trial

2009 ◽  
Vol 89 (8) ◽  
pp. 829-839 ◽  
Author(s):  
Michael D. Lewek ◽  
Theresa H. Cruz ◽  
Jennifer L. Moore ◽  
Heidi R. Roth ◽  
Yasin Y. Dhaher ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Randomized Clinical Trial ◽  
Small Sample Size ◽  
Gait Pattern ◽  
Small Sample ◽  
Lower Limbs ◽  
Walking Ability ◽  
Locomotor Training ◽  
Robotic Assisted ◽  
Robotic Devices

BackgroundLocomotor training (LT) to improve walking ability in people poststroke can be accomplished with therapist assistance as needed to promote continuous stepping. Various robotic devices also have been developed that can guide the lower limbs through a kinematically consistent gait pattern. It is unclear whether LT with either therapist or robotic assistance could improve kinematic coordination patterns during walking.ObjectiveThe purpose of this study was to determine whether LT with physical assistance as needed was superior to guided, symmetrical, robotic-assisted LT for improving kinematic coordination during walking poststroke.DesignThis study was a randomized clinical trial.MethodsNineteen people with chronic stroke (>6 months’ duration) participating in a larger randomized control trial comparing therapist- versus robotic-assisted LT were recruited. Prior to and following 4 weeks of LT, gait analysis was performed at each participant's self-selected speed during overground walking. Kinematic coordination was defined as the consistency of intralimb hip and knee angular trajectories over repeated gait cycles and was compared before and after treatment for each group.ResultsLocomotor training with therapist assistance resulted in significant improvements in the consistency of intralimb movements of the impaired limb. Providing consistent kinematic assistance during robotic-assisted LT did not result in improvements in intralimb consistency. Only minimal changes in discrete kinematics were observed in either group.LimitationsThe limitations included a relatively small sample size and a lack of quantification regarding the extent of movement consistency during training sessions for both groups.ConclusionsCoordination of intralimb kinematics appears to improve in response to LT with therapist assistance as needed. Fixed assistance, as provided by this form of robotic guidance during LT, however, did not alter intralimb coordination.

Evaluation of potential gastrointestinal carcinogenicity associated with the ingestion of asbestos

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Thales J. Cheng ◽  
Sharlee L. More ◽  
Mark A. Maddaloni ◽  
Ernest S. Fung
Keyword(s):  
Animal Studies ◽  
Distribution Systems ◽  
Fiber Type ◽  
Small Sample Size ◽  
Small Sample ◽  
Smoking History ◽  
Weight Of Evidence ◽  
Critical Study ◽  
Asbestos Fibers ◽  
Gi Cancers

AbstractThe inhalation of asbestos, depending on the fiber type and dose, may be associated with the development of mesothelioma and other asbestos-related diseases. However, little is known about the potential adverse effects associated with the ingestion of asbestos. Evidence of asbestos fibers released from asbestos-cement pipes used in water distribution systems has led to concerns of potentially contaminated drinking water. The purpose of this study is to determine whether ingestion of asbestos fibers may lead to cancerous effects on the gastrointestinal (GI) tract. Data from animal and human studies were analyzed using a weight-of-evidence approach to evaluate the potential risk of GI cancers associated with asbestos ingestion. Seventeen human and 23 animal studies were identified and evaluated in this study. Animal studies were conducted in multiple species with inconsistent dosing protocols. Overall, animal studies reported that the asbestos fibers, irrespective of fiber type and dose, failed to produce any definitive GI carcinogenic effect. The 17 identified human epidemiological studies reported the ingestion of asbestos-contaminated water with concentrations from 1 to 71,350 million fibers per liter (MFL). A majority of the epidemiology studies reported statistically significant increases in multiple GI-specific cancers. However, these findings are confounded due to several critical study limitations including flawed study design, small sample size, selection bias, lack of individual exposure history, lack of adequate latency, and the inability to account for confounders including occupational history, diet, and smoking history. Based on our weight-of-evidence assessment, there is insufficient evidence of causality between the ingestion of asbestos and an increased incidence of GI cancers.

scholarly journals Daily Activity Recognition and Tremor Quantification from Accelerometer Data for Patients with Essential Tremor Using Stacked Denoising Autoencoders

2022 ◽  
Vol 15 (1) ◽  
Author(s):  
Qin Ni ◽  
Zhuo Fan ◽  
Lei Zhang ◽  
Bo Zhang ◽  
Xiaochen Zheng ◽  
...  
Keyword(s):  
Essential Tremor ◽  
Activity Recognition ◽  
Small Sample Size ◽  
Disease Diagnosis ◽  
Small Sample ◽  
Accelerometer Data ◽  
Denoising Autoencoder ◽  
Intelligent Home ◽  
Acceleration Data ◽  
Significant Performance

AbstractHuman activity recognition (HAR) has received more and more attention, which is able to play an important role in many fields, such as healthcare and intelligent home. Thus, we have discussed an application of activity recognition in the healthcare field in this paper. Essential tremor (ET) is a common neurological disorder that can make people with this disease rise involuntary tremor. Nowadays, the disease is easy to be misdiagnosed as other diseases. We have combined the essential tremor and activity recognition to recognize ET patients’ activities and evaluate the degree of ET for providing an auxiliary analysis toward disease diagnosis by utilizing stacked denoising autoencoder (SDAE) model. Meanwhile, it is difficult for model to learn enough useful features due to the small behavior dataset from ET patients. Thus, resampling techniques are proposed to alleviate small sample size and imbalanced samples problems. In our experiment, 20 patients with ET and 5 healthy people have been chosen to collect their acceleration data for activity recognition. The experimental results show the significant result on ET patients activity recognition and the SDAE model has achieved an overall accuracy of 93.33%. What’s more, this model is also used to evaluate the degree of ET and has achieved the accuracy of 95.74%. According to a set of experiments, the model we used is able to acquire significant performance on ET patients activity recognition and degree of tremor assessment.

scholarly journals Acute Effects of a Single Football Training or Match on Passive Hip Rotation Range of Motion in Semi-Professional Football Players: A Pilot Study

Medicina ◽  
2020 ◽  
Vol 56 (5) ◽  
pp. 228
Author(s):  
Blanca De-la-Cruz-Torres ◽  
Vanesa Abuín-Porras ◽  
Maria Blanco-Morales ◽  
Mónica de-la-Cueva-Reguera ◽  
César Calvo-Lobo ◽  
...  
Keyword(s):  
Range Of Motion ◽  
Internal Rotation ◽  
External Rotation ◽  
Small Sample Size ◽  
Training Session ◽  
Small Sample ◽  
Lower Limbs ◽  
Acute Effects ◽  
Before And After ◽  
Hip Rotation

Background and Objectives: The repetitive loading forces generated during football activities may induce alterations in the hip rotation range of motion (ROM) in players. The objective of this study was to evaluate the acute effects of a training and a match on bilateral passive hip rotation ROM in both lower limbs in soccer. Material and Methods: Twenty-eight male players were divided into two groups: 14 players (28 limbs) with normal bilateral hip rotation ROM (NH group) and 14 players (28 limbs) with restricted bilateral hip ROM (RH group). Passive bilateral hip rotation ROM was measured, by goniometer, before and after training or a match. Internal-rotation ROM (ROMIR), external-rotation ROM (ROMER), total ROM (ROMTOT) and relative internal rotation (ROMREL) were calculated. Results: The NH group did not show substantial changes in hip ROM after a training nor a match. After a training session, only the RH group exhibited a substantial increase in ROMIR, ROMER and ROMTOT. After a match, only the RH group exhibited a substantial increase in ROMER and ROMTOT and exhibited a substantial decrease in ROMREL. Comparing both groups, there were significant differences within ROM changes for ROMER and ROMTOT after training and for ROMER and ROMREL after a match. Conclusions: Despite the small sample size of the present study, the findings indicate that a single football activity leads to significant changes in hip rotation ROM in players with restricted bilateral hip external-rotation ROM. However, these changes did not reach reference cut-off scores.

Phenotypic and Genetic Analyses of a Short Measure of Psychosis-proneness in a Large-scale Australian Twin Study

Twin Research ◽  
2001 ◽  
Vol 4 (1) ◽  
pp. 30-40 ◽  
Author(s):  
David A. Hay ◽  
Nicholas G. Martin ◽  
Debra Foley ◽  
Susan A. Treloar ◽  
Katherine M. Kirk ◽  
...  
Keyword(s):  
Large Scale ◽  
Small Sample Size ◽  
Model Fitting ◽  
Twin Studies ◽  
Small Sample ◽  
Eysenck Personality Questionnaire ◽  
Social Anhedonia ◽  
Genetic Analyses ◽  
Genetic Determination ◽  
Psychosis Proneness

AbstractPrevious genetic analyses of psychosis proneness have been limited by their small sample size. For the purposes of large-scale screening, a 12-item questionnaire was developed through a two-stage process of reduction from the full Chapman and Chapman scales. 3685 individuals (including 1438 complete twin pairs) aged 18–25 years and enrolled in the volunteer Australian Twin Registry returned a mail questionnaire which included this psychosis proneness scale and the Eysenck Personality Questionnaire. Despite the brevity of the questionnaire, item and factor analysis identified four unambiguous and essentially uncorrelated scales. There were (1) Perceptual Aberration – Magical Ideation; (2) Hypomania – Impulsivity/Nonconformity; (3) Social Anhedonia and (4) Physical Anhedonia. Model-fitting analyses showed additive genetic and specific environmental factors were sufficient for three of the four scales, with the Social Anhedonia scale requiring also a parameter for genetic dominance. There was no evidence for the previously hypothesised sex differences in the genetic determination of psychosis-proneness. The potential value of multivariate genetic analysis to examine the relationship between these four scales and dimensions of personality is discussed. The growing body of longitudinal evidence on psychosis-proneness suggests the value of incorporating this brief measure into developmental twin studies.

Senatorial signatures

2021 ◽  
pp. 1-7
Author(s):  
Nancy L. Segal ◽  
Francisca J. Niculae
Keyword(s):  
Statistical Power ◽  
Genetic Factors ◽  
Small Sample Size ◽  
Small Sample ◽  
Contributing Factors ◽  
Left Handedness ◽  
Left Handed ◽  
Males And Females ◽  
General Populations ◽  
Larger Sample

Abstract A greater frequency of left-handedness among males than females has been observed in general populations. Past studies have explained this difference with reference to males’ greater susceptibility to adverse birth events, while more recent studies have identified other contributing factors. On January 16, 2020, U.S. senators signed an oath to act impartially during the president’s impeachment trial. This televised event allowed direct comparison of the proportion of right-handedness and left-handedness in a professionally accomplished sample of males and females. As expected, no sex difference in the proportion of left-handed senators was found, although the small sample size offered low statistical power. Replicating this finding with a larger sample would support the view that left-handedness among select groups of males is linked to genetic factors.

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.

Sign in / Sign up

Export Citation Format

Share Document