Publications by authors named "J Scott Rankin"

1,310 Publications

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Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

J Med Genet 2021 May 7. Epub 2021 May 7.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK

Introduction: Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants of uncertain significance. Affected patients and unaffected relatives are commonly referred to clinical genetics to consider genetic testing. However, no consensus exists regarding how such genetic testing should best be undertaken and on which patients.

Objective: We sought to ascertain UK clinical genetics testing practice in MND/FTD referrals, with the aim of helping inform guideline development.

Methods: MND/FTD clinical genetics referrals comprising both affected patients and unaffected relatives between 2012 and 2016 were identified and a standardised proforma used to collate data from clinical records.

Results: 301 referrals (70 affected, 231 unaffected) were reviewed across 10 genetics centres. Previously identified familial variants were known in 107 cases and 58% subsequently underwent testing (8 of 8 diagnostic and 54 of 99 predictive). The median number of genetic counselling appointments was 2 for diagnostic and 4 for predictive testing. Importantly, application of current UK Genomic Test Directory eligibility criteria would not have resulted in detection of all pathogenic variants observed in this cohort.

Conclusion: We propose pragmatic MND/FTD genetic testing guidelines based on appropriate genetic counselling.
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http://dx.doi.org/10.1136/jmedgenet-2021-107776DOI Listing
May 2021

Auditory streaming emerges from fast excitation and slow delayed inhibition.

J Math Neurosci 2021 May 3;11(1). Epub 2021 May 3.

Department of Mathematics, College of Engineering, Mathematics & Physical Sciences, University of Exeter, Exeter, UK.

In the auditory streaming paradigm, alternating sequences of pure tones can be perceived as a single galloping rhythm (integration) or as two sequences with separated low and high tones (segregation). Although studied for decades, the neural mechanisms underlining this perceptual grouping of sound remains a mystery. With the aim of identifying a plausible minimal neural circuit that captures this phenomenon, we propose a firing rate model with two periodically forced neural populations coupled by fast direct excitation and slow delayed inhibition. By analyzing the model in a non-smooth, slow-fast regime we analytically prove the existence of a rich repertoire of dynamical states and of their parameter dependent transitions. We impose plausible parameter restrictions and link all states with perceptual interpretations. Regions of stimulus parameters occupied by states linked with each percept match those found in behavioural experiments. Our model suggests that slow inhibition masks the perception of subsequent tones during segregation (forward masking), whereas fast excitation enables integration for large pitch differences between the two tones.
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http://dx.doi.org/10.1186/s13408-021-00106-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8093365PMC
May 2021

Perceptual rivalry with vibrotactile stimuli.

Atten Percept Psychophys 2021 Apr 22. Epub 2021 Apr 22.

Department of Mathematics, College of Engineering, Mathematics and Physical Sciences, University of Exeter, Exeter, UK.

In perceptual rivalry, ambiguous sensory information leads to dynamic changes in the perceptual interpretation of fixed stimuli. This phenomenon occurs when participants receive sensory stimuli that support two or more distinct interpretations; this results in spontaneous alternations between possible perceptual interpretations. Perceptual rivalry has been widely studied across different sensory modalities including vision, audition, and to a limited extent, in the tactile domain. Common features of perceptual rivalry across various ambiguous visual and auditory paradigms characterize the randomness of switching times and their dependence on input strength manipulations (Levelt's propositions). It is still unclear whether the general characteristics of perceptual rivalry are preserved with tactile stimuli. This study aims to introduce a simple tactile stimulus capable of generating perceptual rivalry and explores whether general features of perceptual rivalry from other modalities extend to the tactile domain. Our results confirm that Levelt's proposition II extends to tactile bistability, and that the stochastic characteristics of irregular perceptual alternations agree with non-tactile modalities. An analysis of correlations between subsequent perceptual phases reveals a significant positive correlation at lag 1 (as found in visual bistability), and a negative correlation for lag 2 (in contrast with visual bistability).
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http://dx.doi.org/10.3758/s13414-021-02278-1DOI Listing
April 2021

Quadricuspid Aortic Valve Repair Facilitated by Geometric Ring Annuloplasty.

Innovations (Phila) 2021 Apr 20:15569845211003095. Epub 2021 Apr 20.

Department of Cardiovascular and Thoracic Surgery, West Virginia University, Morgantown, WV, USA.

Quadricuspid aortic valve (QAV) is a rare congenital anomaly often associated with aortic insufficiency. The exact anatomy of QAV is variable, and most cases have undergone aortic valve replacement. With the recognition that aortic valve repair achieves superior patient outcomes as compared to replacement, a systematic approach to autologous reconstruction of QAV is needed. This article reports 2 cases having successful repair utilizing geometric aortic annuloplasty rings, and describes a proposed scheme for repairing most QAV defects, based on relative leaflet and commissural characteristics. Using either tri-leaflet or bicuspid ring annuloplasty, the normal sub-commissural triangles can be remodeled into a 120° or 180° configuration, respectively, and then the leaflets can be sutured and plicated to fit annular geometry. With this approach, most quadricuspid valves potentially could undergo autologous reconstruction.
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http://dx.doi.org/10.1177/15569845211003095DOI Listing
April 2021

What Is Important?

Authors:
John A Rankin

ATS Sch 2020 Aug 31;1(4):348-350. Epub 2020 Aug 31.

Department of Internal Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.

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http://dx.doi.org/10.34197/ats-scholar.2020-0051CMDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015766PMC
August 2020