Remembrance of things future

Kiernan, Matthew C.

doi:10.1136/jnnp-2013-307129

Cited by 9 publications

(10 citation statements)

References 7 publications

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“…These results warrant replication in additional cohorts, but we note that this sample was adequate to identify a protective effect of the LTBP4 gene, a finding that has subsequently been confirmed in additional cohorts 8,9 . Previous candidate associations have supported SPP1 5 , LTBP4 8,9 and CD40 7 as modifiers of Duchenne muscular dystrophy, but to our knowledge, this is the first study to identify genome-wide significant modifiers. That genome-wide significant noncoding variants in two interacting genes were identified in just 253 patients suggests that larger cohorts will uncover additional modifiers.…”

Section: Discussionsupporting

confidence: 57%

“…LTBP4 SNPs/haplotypes show greater protective effects with a recessive model 6,8,9 , while SPP1 and CD40 SNPs show greater risk effects with a dominant model 5,7 , therefore we performed an initial GWAS for all three (recessive, additive and dominant) genetic models. Three SNPs tagging two loci exceeded a conventional genome-wide significance threshold of p-value ≤ 5×10 −8 (−log 10 [p-value] ≥ 7.3): rs2725797 and rs2624259 at 15q14 ( r 2 = 0.95), and rs710160 at 19q13.2 (Fig 1, Table 1) using the previously supported recessive model for age at loss of ambulation 6,8,9 . Under additive and dominant models, no single locus exceeded a genome-wide significance threshold, although rs2624259 and rs2725797 at 15q14 remained among the top 15 associated loci (p-value = 7.5×10 −6 ) under an additive model (Table S1).…”

Section: Resultsmentioning

confidence: 99%

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Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

Weiss

Vieland

Dunn

et al. 2018

Annals of Neurology

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Section: Discussionsupporting

confidence: 57%

Section: Resultsmentioning

confidence: 99%

Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

Weiss

Vieland

Dunn

et al. 2018

Annals of Neurology

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“…Occasionally very high scores have been seen in remote tests, such as those performed in the PREDICT-PD study (described further below), with perfect or near-perfect accuracy (e.g. KS30 of 200 and DS30 of 1.0) [6]. This suggests that the subject is using two hands to hit the keys and is not alternating between keys with a single hand, and such results should be excluded from analyses.…”

Section: Discussionmentioning

confidence: 99%

“…The BRAIN test has been successfully implemented as a motor assessment in our longitudinal online Parkinson’s risk study, PREDICT-PD, which began recruiting participants in April 2011 [6]. Individuals under follow-up in this study undertake the BRAIN test on an annual basis.…”

Section: Discussionmentioning

confidence: 99%

“…Higher and lower risk groups were characterized on the basis of early non-motor symptoms for PD and recognized risk factors. When the 100 participants with the highest risk estimates where compared to 100 with lowest risk scores, significant differences in KS30 where found [6]. Other predictive and high-risk cohorts for PD have concentrated on early non-motor features and imaging abnormalities to ascribe risk of future conversion to PD [10], [11].…”

Section: Discussionmentioning

confidence: 99%

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Bradykinesia-Akinesia Incoordination Test: Validating an Online Keyboard Test of Upper Limb Function

et al. 2014

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BackgroundThe Bradykinesia Akinesia Incoordination (BRAIN) test is a computer keyboard-tapping task that was developed for use in assessing the effect of symptomatic treatment on motor function in Parkinson's disease (PD). An online version has now been designed for use in a wider clinical context and the research setting.MethodsValidation of the online BRAIN test was undertaken in 58 patients with Parkinson's disease (PD) and 93 age-matched, non-neurological controls. Kinesia scores (KS30, number of key taps in 30 seconds), akinesia times (AT30, mean dwell time on each key in milliseconds), incoordination scores (IS30, variance of travelling time between key presses) and dysmetria scores (DS30, accuracy of key presses) were compared between groups. These parameters were correlated against total motor scores and sub-scores from the Unified Parkinson's Disease Rating Scale (UPDRS).ResultsMean KS30, AT30 and IS30 were significantly different between PD patients and controls (p≤0.0001). Sensitivity for 85% specificity was 50% for KS30, 40% for AT30 and 29% for IS30. KS30, AT30 and IS30 correlated significantly with UPDRS total motor scores (r = −0.53, r = 0.27 and r = 0.28 respectively) and motor UPDRS sub-scores. The reliability of KS30, AT30 and DS30 was good on repeated testing.ConclusionsThe BRAIN test is a reliable, convenient test of upper limb motor function that can be used routinely in the outpatient clinic, at home and in clinical trials. In addition, it can be used as an objective longitudinal measurement of emerging motor dysfunction for the prediction of PD in at-risk cohorts.

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„Wut im Ohr“: Misophonie

Schwemmle

Arens

2021

HNO

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ZusammenfassungDie Misophonie ist eine Intoleranz auf bestimmte Alltagsgeräusche. Hierbei fungieren als „Trigger“ „menschliche Körpergeräusche“, z. B. Schlucken/Schmatzen/Atemgeräusche oder Geräusche, die von Menschen, aber nicht vom menschlichen Körper erzeugt werden (z. B. Klicken Kugelschreiberknopf), ferner Tier‑/Maschinengeräusche. Die Betroffenen verspüren sofort eine negativ-emotionale Reaktion wie Wut, Aggression, Ekel u.a. Objektivierbare Veränderungen sind Herzfrequenzerhöhung und Blutdruckveränderungen. Die emotionale Reaktion ist individuell und hängt z. B. von Geräuschart, persönlicher Vorerfahrung, sozialem Kontext oder psychologischem Profil ab. Die Misophonie ist bisher als Krankheit nicht definiert und keinem offiziellen Diagnosesystem zugeordnet, sie scheint eine eigenständige Störung zu sein: Assoziationen bestehen u. a. mit Aufmerksamkeits‑/Zwangsstörungen, Tinnitus, Hyperakusis, Autismus-Spektrum-Krankheiten. Definitionskriterien wurden 2013 veröffentlicht; verschiedene, validierte Fragebögen wurden bisher zur Misophonieausprägung entwickelt. Studien mit funktionellen MRT-Untersuchungen des Kopfes zeigten eine übermäßige Aktivierung des anterioren Inselkortex (AIC) und seiner benachbarten Regionen, die für Emotionsverarbeitung/-regulation verantwortlich sind. Bisher gibt es keine randomisierten kontrollierten Studien zur Therapie. Einzelne Publikationen beschreiben kognitive Verhaltensinterventionen, Retrainingtherapien und Schallmaskierungssysteme. Zur Triggerreduktion werden Ohrstöpsel/Musikkopfhörer verwendet. Auch HNO-Ärzte können mit Misophoniepatienten konfrontiert werden, z. B. zur Klärung des Hörvermögens oder Beratung von Therapiemöglichkeiten. Der Bericht stellt eine Übersicht des aktuellen Wissensstands zur Misophonie sowie ihrer Diagnostik und Therapie dar.

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Remembrance of things future

Cited by 9 publications

References 7 publications

Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

Bradykinesia-Akinesia Incoordination Test: Validating an Online Keyboard Test of Upper Limb Function

„Wut im Ohr“: Misophonie

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