scholarly journals Genetic testing in ALS

Neurology ◽  
2017 ◽  
Vol 88 (10) ◽  
pp. 991-999 ◽  
Author(s):  
Alice Vajda ◽  
Russell L. McLaughlin ◽  
Mark Heverin ◽  
Owen Thorpe ◽  
Sharon Abrahams ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Online Survey ◽  
Genetic Mutation ◽  
Presymptomatic Testing ◽  
Consensus Definition ◽  
Attitudes And Practices ◽  
Sporadic Als ◽  
History Of ◽  
Definition Of ◽  
Lateral Sclerosis

Objective:To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making.Methods:ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing.Results:Responses from 167 clinicians from 21 different countries were analyzed. The majority of respondents (73.3%) do not consider that there is a consensus definition of familial ALS (FALS). Fifty-seven percent consider a family history of frontotemporal dementia and 48.5% the presence of a known ALS genetic mutation as sufficient for a diagnosis of FALS. Most respondents (90.2%) offer genetic testing to patients they define as having FALS and 49.4% to patients with sporadic ALS. Four main genes (SOD1, C9orf72, TARDBP, and FUS) are commonly tested. A total of 55.2% of respondents would seek genetic testing if they had personally received a diagnosis of ALS. Forty-two percent never offer presymptomatic testing to family members of patients with FALS. Responses varied between ALS specialists and nonspecialists and based on the number of new patients seen per year.Conclusions:There is a lack of consensus among clinicians as to the definition of FALS. Substantial variation exists in attitude and practices related to genetic testing of patients and presymptomatic testing of their relatives across geographic regions and between experienced specialists in ALS and nonspecialists.

scholarly journals Knowledge, attitudes and practices of West Africans on genetic studies of stroke: Evidence from the SIREN Study

2018 ◽  
Vol 14 (1) ◽  
pp. 69-79 ◽  
Author(s):  
Rufus O Akinyemi ◽  
Fred S Sarfo ◽  
Joshua Akinyemi ◽  
Arti Singh ◽  
Matthew Onoja Akpa ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Genetic Testing ◽  
Family History ◽  
High Blood Pressure ◽  
Stroke Patients ◽  
Genetic Studies ◽  
Attitudes And Practices ◽  
Heritable Disorder ◽  
History Of ◽  
Knowledge Attitudes And Practices

Background It is crucial to assess genomic literacy related to stroke among Africans in preparation for the ethical, legal and societal implications of the genetic revolution which has begun in Africa. Objective To assess the knowledge, attitudes and practices (KAP) of West Africans about stroke genetic studies. Methods A comparative cross-sectional study was conducted among stroke patients and stroke-free controls recruited across 15 sites in Ghana and Nigeria. Participants' knowledge of heritability of stroke, willingness to undergo genetic testing and perception of the potential benefits of stroke genetic research were assessed using interviewer-administered questionnaire. Descriptive, frequency distribution and multiple regression analyses were performed. Results Only 49% of 2029 stroke patients and 57% of 2603 stroke-free individuals knew that stroke was a heritable disorder. Among those who knew, 90% were willing to undergo genetic testing. Knowledge of stroke heritability was associated with having at least post-secondary education (OR 1.51, 1.25–1.81) and a family history of stroke (OR 1.20, 1.03–1.39) while Islamic religion (OR=0.82, CI: 0.72–0.94), being currently unmarried (OR = 0.81, CI: 0.70–0.92), and alcohol use (OR = 0.78, CI: 0.67–0.91) were associated with lower odds of awareness of stroke as a heritable disorder. Willingness to undergo genetic testing for stroke was associated with having a family history of stroke (OR 1.34, 1.03–1.74) but inversely associated with a medical history of high blood pressure (OR = 0.79, 0.65–0.96). Conclusion To further improve knowledge of stroke heritability and willingness to embrace genetic testing for stroke, individuals with less formal education, history of high blood pressure and no family history of stroke require targeted interventions.

scholarly journals What do doctors understand by spiritual health? A survey of UK general practitioners

BMJ Open ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. e045110
Author(s):  
Orla Whitehead ◽  
Carol Jagger ◽  
Barbara Hanratty
Keyword(s):  
General Practitioners ◽  
Online Survey ◽  
Research Question ◽  
A Priori ◽  
Full Range ◽  
Spiritual Health ◽  
Free Text ◽  
Consensus Definition ◽  
Definition Of ◽  
The Uk

BackgroundIn the UK, doctors’ regulatory and professional bodies require general practitioners (GPs) to consider discussing spiritual health as part of the consultation. However, spiritual health is not defined in guidance, and it is unknown what individual doctors understand by the term.Research questionWhat do GPs understand by the term ‘spiritual health’?AimTo explore how GPs understand and define spiritual health.Design and settingSurvey of GPs in England 9 April 2019–21 May 2019.MethodA mixed-methods online survey asked practising GPs in England qualitative free text questions—‘What does the term ‘Spiritual Health’ mean to you?’ and ‘Any comments?’ after five vignettes about discussing spiritual health with patients. These were subject to thematic analysis using a priori themes from the literature on GP definitions of spiritual health, and on attitudes towards the topic.Participants177 practising GPs in England.Results177 GPs responded to the survey. Understanding of spiritual health fitted into three themes: self-actualisation and meaning, transcendence and relationships beyond the self, and expressions of spirituality. A full range of views were expressed, from a minority who challenged their role in spiritual health, through to others enthusiastic about its place in healthcare.ConclusionSpirituality and religiosity are understood by English GPs to be distinct concepts. A consensus definition of spiritual health incorporating the themes identified by working doctors, may be helpful to support GPs to follow the recommended guidance in their practice.

scholarly journals Genetics and Sex in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS): Is There a Link?

2020 ◽  
Vol 21 (10) ◽  
pp. 3647 ◽  
Author(s):  
Francesca Trojsi ◽  
Giulia D’Alvano ◽  
Simona Bonavita ◽  
Gioacchino Tedeschi
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Disease Risk ◽  
Genetic Mutation ◽  
Chromosome 9 ◽  
Patient Specific ◽  
Reading Frame ◽  
Hexanucleotide Repeat ◽  
Sporadic Als ◽  
Als Patients ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with no known cure. Approximately 90% of ALS cases are sporadic, although multiple genetic risk factors have been recently revealed also in sporadic ALS (SALS). The pathological expansion of a hexanucleotide repeat in chromosome 9 open reading frame 72 (C9orf72) is the most common genetic mutation identified in familial ALS, detected also in 5–10% of SALS patients. C9orf72-related ALS phenotype appears to be dependent on several modifiers, including demographic factors. Sex has been reported as an independent factor influencing ALS development, with men found to be more susceptible than women. Exposure to both female and male sex hormones have been shown to influence disease risk or progression. Moreover, interplay between genetics and sex has been widely investigated in ALS preclinical models and in large populations of ALS patients carrying C9orf72 repeat expansion. In light of the current need for reclassifying ALS patients into pathologically homogenous subgroups potentially responsive to targeted personalized therapies, we aimed to review the recent literature on the role of genetics and sex as both independent and synergic factors, in the pathophysiology, clinical presentation, and prognosis of ALS. Sex-dependent outcomes may lead to optimizing clinical trials for developing patient-specific therapies for ALS.

scholarly journals Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

2019 ◽  
Author(s):  
Oliver H. Tam ◽  
Nikolay V. Rozhkov ◽  
Regina Shaw ◽  
Duyang Kim ◽  
Isabel Hubbard ◽  
...  
Keyword(s):  
Motor Neurons ◽  
Molecular Subtypes ◽  
Machine Learning Algorithms ◽  
Tissue Samples ◽  
Proteotoxic Stress ◽  
Sporadic Als ◽  
History Of ◽  
Als Patients ◽  
Large Survey ◽  
Lateral Sclerosis

SummaryAmyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons. While several inherited pathogenic mutations have been identified as causative, the vast majority of cases are sporadic with no family history of disease. Thus, for the majority of ALS cases, a specific causal abnormality is not known and the disease may be a product of multiple inter-related pathways contributing to varying degrees in different ALS patients. Using unsupervised machine learning algorithms, we stratified the transcriptomes of 148 ALS decedent cortex tissue samples into three distinct and robust molecular subtypes. The largest cluster, identified in 61% of patient samples, displayed hallmarks of oxidative and proteotoxic stress. Another 20% of the ALS patient samples exhibited high levels of retrotransposon expression and other signatures of TDP-43 dysfunction. Finally, a third group showed predominant signatures of glial activation (19%). Together these results demonstrate that at least three distinct molecular signatures contribute to ALS disease. While multiple dysregulated components and pathways comprising these clusters have previously been implicated in ALS pathogenesis, unbiased analysis of this large survey demonstrated that sporadic ALS patient tissues can be segregated into distinct molecular subsets.

scholarly journals A national survey of potential acceptance of COVID-19 vaccines in healthcare workers in Egypt

2021 ◽  
Author(s):  
Aliae AR Mohamed Hussein ◽  
Islam Galal ◽  
Nahed A Makhlouf ◽  
Hoda A Makhlouf ◽  
Howaida K Abd-Elaal ◽  
...  
Keyword(s):  
Health Care ◽  
Chronic Diseases ◽  
Health Care Providers ◽  
Online Survey ◽  
Genetic Mutation ◽  
Vaccine Hesitancy ◽  
Care Providers ◽  
Cross Sectional ◽  
Health Care Employees ◽  
History Of

AbstractBackgroundSince the start of COVID-19 outbreak investigators are competing to develop and exam vaccines against COVID-19. It would be valuable to protect the population especially health care employees from COVID-19 infection. The success of COVID-19 vaccination programs will rely heavily on public willingness to accept the vaccine.AimsThis study aimed to describe the existing COVID-19 vaccine approval landscape among the health care providers and to identify the most probable cause of agreement or disagreement of COVID-19 vaccine.MethodsA cross-sectional online survey was done.ResultsThe present study included 496 health care employees, 55% were at age group from 18-45 years old. History of chronic diseases was recorded in 40.4%, and definite history of drug/food allergy in 10.1%. Only 13.5% totally agree to receive the vaccine, 32.4% somewhat agree and 40.9% disagreed to take the vaccine. Causes of disagreement were none safety, fear of genetic mutation and recent techniques and believe that the vaccine is not effective (57%, 20.2%, 17.7% and 16.6% respectively). The most trusted vaccine was the mRNA based vaccine. The age of health care employees and the presence of comorbidities or chronic diseases were the main factors related to COVID-19 acceptance (P<0.001 and 0.02 respectively).ConclusionVaccine hesitancy is not uncommon in healthcare employees in Egypt and this may be an alarming barrier of vaccine acceptance in the rest of population. There is an urgent need to start campaigns to increase the awareness of the vaccine importance.

3 Epidemiology of running-related injuries in the Korean population: a cross-sectional survey of 1046 runners

2021 ◽  
Vol 55 (16) ◽  
pp. 941.1-941
Author(s):  
HC Rhim ◽  
SJ Kim ◽  
JS Jeon ◽  
HW Nam ◽  
KM Jang
Keyword(s):  
Systematic Review ◽  
Sports Medicine ◽  
Online Survey ◽  
Korean Population ◽  
List Type ◽  
Long Distance ◽  
Consensus Definition ◽  
Cross Sectional ◽  
Delphi Approach ◽  
Definition Of

AimsRunning is the oldest form of exercise in human history and the most popular exercise in the world.1 While running can improve physical fitness and reduce chronic health problems such as obesity and cardiovascular disease, it is also associated with injuries in lower extremities.2 However, because there was no consensus definition of running-related injury, the prevalence and incidence of running-related injuries had been reported to vary between 19% and 92%.3 Moreover, epidemiology of running-related injuries in Asian populations has been rarely investigated. Therefore, this study was first to use the consensus definition of running-related injuries published in 20153 and investigated the epidemiology of running-related injuries in the Korean population.MethodsIn cross-sectional design, an online survey was circulated among various running communities in Korea. The questionnaire contained information on presence and location of pain attributed to running, demographic characteristics, weekly running mileage, training intensity, running pace, type of shoes, foot strike, reason for running, and exercise experience prior to running.ResultsAmong 1046 runners (male=624, female 422) who responded, 94.7% experienced some kind of pain while running, but only 37% were categorized to have running-related injuries. The most common site of injury was the knee followed by ankle. Exercise experience prior to running (OR 1.57 95% CI 1.13–2.21), setting of specific running goals (OR 1.57 95% CI 1.08–2.27), and mileage increases from 20–30 km to 30–40 km (OR 1.66 95% CI 1.06–2.63) were associated with significant increases in running-related injuries.ConclusionIn order to avoid running-related injuries, runners should be careful in increasing weekly mileage. Moreover, runners with previous exercise experience may need to approach running more cautiously. Setting goals may be motivating but at the same time can increase the risk of running-related injuries.ReferencesVidebæk S, Bueno AM, Nielsen RO, Rasmussen S. Incidence of running-related injuries per 1000 h of running in different types of runners: a systematic review and meta-analysis. Sports medicine 2015;45(7):1017–26.Van Gent R, Siem D, van Middelkoop M, Van Os A, Bierma-Zeinstra S, Koes B. Incidence and determinants of lower extremity running injuries in long distance runners: a systematic review. British Journal of Sports Medicine 2007;41(8):469–80.Yamato TP, Saragiotto BT, Lopes AD. A consensus definition of running-related injury in recreational runners: a modified Delphi approach. Journal of orthopaedic & sports physical therapy 2015;45(5):375–80.

Bipolar Depression: Best Practices for the Hospitalized Patient

CNS Spectrums ◽  
2007 ◽  
Vol 12 (S19) ◽  
pp. 4-11
Author(s):  
Paul E. Keck ◽  
Mark A. Frye ◽  
Michael E. Thase
Keyword(s):  
Bipolar Depression ◽  
Past History ◽  
Mood Stabilizer ◽  
Bipolar Patient ◽  
Mood Stabilizers ◽  
Consensus Definition ◽  
History Of ◽  
Hospitalized Patient ◽  
Definition Of ◽  
Depressive Episodes

One of the most challenging clinical topics in psychiatry is the diagnosis and treatment of bipolar depression. The term mood stabilizer is frequently employed in the treatment of the hospitalized bipolar patient, although clinicians do not universally agree on a consensus definition of this term. Most clinicians would agree that a mood stabilizer refers to a medication that is effective for the acute treatment of manic, mixed, hypomanic, or depressive episodes. Many experts agree that such treatment should offer efficacy against mania, should not worsen depression, and preferably should treat depression as well. In addition, the acute effectiveness in stabilization should not be at the expense of inducing alternate mood symptoms or switching the patient into the alternate phase of illness. From a maintenance standpoint, a mood stabilizer should also prevent against future relapse or recurrence of manic, mixed, hypomanic, or depressive symptoms or episodes (Slide 1).In addition to use of mood stabilizers, there are other issues surrounding treatment of the hospitalized patient with bipolar depression, including the commonly comorbid issue of substance abuse. Hazardous drinking may more commonly occur in bipolar depression or depressive phase of illness, representing a more complex clinical picture. To facilitate understanding of this complex disorder and its appropriate treatment, this discussion centers around the case of a major depressive episode in a patient with a past history of of mania (ie, bipolar I depression or bipolar depression).

scholarly journals MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis

Cells ◽  
2018 ◽  
Vol 7 (11) ◽  
pp. 219 ◽  
Author(s):  
Claudia Ricci ◽  
Carlotta Marzocchi ◽  
Stefania Battistini
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Neurological Diseases ◽  
High Specificity ◽  
Practical Applications ◽  
Advantages And Disadvantages ◽  
Specificity And Sensitivity ◽  
Sporadic Als ◽  
History Of ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is an incurable and fatal disorder characterized by the progressive loss of motor neurons in the cerebral cortex, brain stem, and spinal cord. Sporadic ALS form accounts for the majority of patients, but in 1–13.5% of cases the disease is inherited. The diagnosis of ALS is mainly based on clinical assessment and electrophysiological examinations with a history of symptom progression and is then made with a significant delay from symptom onset. Thus, the identification of biomarkers specific for ALS could be of a fundamental importance in the clinical practice. An ideal biomarker should display high specificity and sensitivity for discriminating ALS from control subjects and from ALS-mimics and other neurological diseases, and should then monitor disease progression within individual patients. microRNAs (miRNAs) are considered promising biomarkers for neurodegenerative diseases, since they are remarkably stable in human body fluids and can reflect physiological and pathological processes relevant for ALS. Here, we review the state of the art of miRNA biomarker identification for ALS in cerebrospinal fluid (CSF), blood and muscle tissue; we discuss advantages and disadvantages of different approaches, and underline the limits but also the great potential of this research for future practical applications.

scholarly journals Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort

2020 ◽  
Vol 6 (1) ◽  
pp. e390 ◽  
Author(s):  
Jennifer Roggenbuck ◽  
Marilly Palettas ◽  
Leah Vicini ◽  
Radha Patel ◽  
Adam Quick ◽  
...  
Keyword(s):  
Family History ◽  
Age At Onset ◽  
Clinical Trial Design ◽  
Variant Interpretation ◽  
Pathogenic Variants ◽  
Sporadic Als ◽  
Uncertain Significance ◽  
History Of ◽  
Testing Algorithm ◽  
Lateral Sclerosis

ObjectiveTo determine the incidence of amyotrophic lateral sclerosis (ALS) genetic variants in a clinic-based population.MethodsA prospective cohort of patients with definite or probable ALS was offered genetic testing using a testing algorithm based on family history and age at onset.ResultsThe incidence of pathogenic (P) or likely pathogenic (LP) variants was 56.0% in familial ALS (fALS); 11.8% in patients with ALS with a family history of dementia, and 6.8% in sporadic ALS (p < 0.001). C9orf72 expansions accounted for the majority (79%) of P or LP variants in fALS cases. Variants of uncertain significance were identified in 20.0% of fALS cases overall and in 35.7% of C9orf72-negative cases. P or LP variants were detected in 18.5% of early-onset cases (onset age <50 years); the incidence of P or LP variants was not significantly different between family history types in this group.ConclusionsOur data suggest that the incidence of P and LP variants in genes other than C9orf72 is lower than expected in Midwestern fALS cases compared with research cohorts and highlights the challenge of variant interpretation in ALS. An accurate understanding of the incidence of pathogenic variants in clinic-based ALS populations is necessary to prioritize targets for therapeutic intervention and inform clinical trial design.

Gender Differences in Psychosocial and Medical Outcomes Stemming From Testing Positive for the BRCA1/2 Genetic Mutation for Breast Cancer: An Explanatory Sequential Mixed Methods Study

2016 ◽  
Vol 12 (3) ◽  
pp. 280-304 ◽  
Author(s):  
Sharlene Hesse-Biber
Keyword(s):  
Gender Differences ◽  
Mixed Methods ◽  
Genetic Testing ◽  
Mixed Methods Research ◽  
Online Survey ◽  
Genetic Mutation ◽  
Mixed Methods Study ◽  
Health Seeking ◽  
Psychological States ◽  
Sequential Mixed Methods

This quantitatively driven sequential mixed methods study articulates the role of theory in mixed methods research and assesses the contribution of a mixed methods design to examining gender differences in men and women’s genetic testing decisions and the psychosocial factors impacting health-seeking behaviors post-testing. A quantitative online survey of BRCA-positive mutation men and women was followed by a qualitative component consisting of semi-structured telephone interviews regarding genetic testing and post-testing decision making. Findings reveal gender differences in testing motivations: women focus on health; men focus on their family’s needs. Gender differences also appeared in psychological states and surgical decisions, revealing women’s more negative psychosocial reactions to a positive BRCA test result and higher rate of selecting preventative surgery.

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