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Use of muscle MRI in an atypical presentation of FSHD2

Aaron Jesuthasan, Sachit Shah, Jasper M Morrow
2020 BMJ Case Reports  
doi:10.1136/bcr-2020-236444 pmid:32532898 fatcat:kpxejg62mfh6lhxbsllzp6zlny

Salt Water-Triggered Ionic Cross-Linking of Polymer Composites by Controlled Release of Functional Ions

Brian M. Mosby, Sachit Shah, Paul V. Braun
2018 ACS Omega  
A composite that undergoes ionic cross-linking in the presence of salt water is presented as a viable strategy for the development of chemically responsive materials. The permeation of salt water through the composite activates embedded inorganic fillers, resulting in the release of functional ions and subsequent cross-linking with the functional groups of the polymer matrix. The release of a cross-linking agent from the inorganic filler and composite is evaluated along with the impact of the
more » ... oss-linking on composite properties. The new methodology is then coupled with a dopamine-functionalized polymer in order to evaluate the potential of this approach for environmentally triggered self-healing materials.
doi:10.1021/acsomega.8b02786 pmid:31458249 pmcid:PMC6643778 fatcat:xo7lp4ivkrgrzby6g5bizkebva


Aisling Carr, Matthew Evans, Ana Pelayo-Negro, Sachit Shah, David Choi, Julian Blake, Rahul Phadke, JD Gilmore, PN Hawkins, Mary Reilly
2015 Journal of Neurology, Neurosurgery and Psychiatry  
doi:10.1136/jnnp-2015-312379.141 fatcat:j2d5usnpo5ayllnzenstvvcpey

Dynamic ultrasound of the subacromial–subdeltoid bursa in patients with shoulder impingement: a comparison with normal volunteers

Ahmed A. Daghir, Paul A. Sookur, Sachit Shah, Martin Watson
2011 Skeletal Radiology  
Objective The purpose of the study was to determine if the thickness of the subacromial-subdeltoid (SASD) bursa during dynamic ultrasound and on static views differs between patients with shoulder impingement syndrome and healthy volunteers. Materials and methods Twenty-two patients with a clinical diagnosis of shoulder impingement syndrome and 23 healthy volunteers were recruited. A subset of patients showing an immediate symptom response following intrabursal injection was identified as
more » ... tion responders". Ultrasound of the shoulder was performed on all participants using three standard static views and two dynamic views (before and after arm abduction). The thickness of both the intrabursal fluid and the superficial peribursal fat was measured on all views. The bursal thickness measurements in the two groups were compared using a t test for significance. Results The mean increase in SASD bursal fluid thickness following arm abduction was not statistically different among all patients (0.39±0.41 mm) and controls (0.35±0.32 mm), p=0.72. The same was true comparing injection responders (0.46±0.49 mm) with controls, p=0.41. On static views, greater bursal fluid thickness was found in patients (1.01± 0.48 mm) compared with controls (0.67±0.32 mm) when using the short axis view of the supraspinatus, p=0.006. No statistically significant difference was found between injection responders and controls when measuring peribursal fat thickness on any view. Conclusions Gathering of the SASD bursa demonstrated during dynamic ultrasound does not necessarily indicate painful impingement of the bursa as it is found to a similar degree in patients with a clinical diagnosis of impingement and healthy volunteers.
doi:10.1007/s00256-011-1295-z pmid:21997670 fatcat:cz4bwjo3bzd35imbrnwh4irmmm


Matthew Evans, Jasper Morrow, Christopher Sinclair, Sachit Shah, Michael Hanna, Mary Reilly, John Thornton, Tarek Yousry
2014 Journal of Neurology, Neurosurgery and Psychiatry  
CMT1A is a length-dependent neuropathy presenting with distal weakness. MRI has demonstrated distally accentuated fatty atrophy of lower limb muscles. This study aimed to quantify fat fraction (FF) along muscle length. Methods We performed lower limb 3T MRI in five patients with CMT1A, and five volunteers using the 3-point Dixon fatwater separation method. FF was measured across 10 slices of the right calf, separated by 2 cm, in tibialis anterior (TA), medial gastrocnemius (MG) and peroneus
more » ... us (PL). A gradient was defined as a minimum average absolute change of 0.5%/cm over three adjacent slices. Results Mean muscle FF was greater in CMT1A patients than volunteers (16.2%/21.7%/35.2 versus 1.4%/2.2%/5.3% in TA/ MG/PL). In CMT1A, there was a distal FF gradient in TA and PL (+3.1%/cm and +3.3%/cm). This wasn't present in volunteers; although a reverse gradient with higher FF proximally was seen in 90% of TA and PL muscles (−1.1%/cm and −0.9%/cm). Conclusion We demonstrate a clear distal FF gradient in TA/PL muscles in CMT1A. These findings have significant implications for slice selection when analysing serial imaging: a 1cm difference in slice analysed may result in a difference of up to 8.9% in FF.
doi:10.1136/jnnp-2014-309236.173 fatcat:z6kfzpx6xfcnboqfu2q6hfe2oi

Synthesis, electrical and magnetic characterization of core–shell silicon carbo-nitride coated carbon nanotubes

Gurpreet Singh, Shashank Priya, Maria R. Hossu, Sandeep R. Shah, Sachit Grover, Ali R. Koymen, Roop L. Mahajan
2009 Materials letters (General ed.)  
The thickness of SiCN coating is in the vicinity of one monolayer based upon a recent study by Shah and Raj who have shown that after monolayer formation the wetting characteristics of CNTs are changed  ... 
doi:10.1016/j.matlet.2009.08.025 fatcat:ge6snivd2bdhfmhiuhxqq3bvca

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub (+1 others)
2018 Frontiers in Neurology  
Objective: Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application. Methods: We retrospectively audited the diagnostic workup in a distal myopathy patient cohort, reassessing the diagnosis, whilst documenting the usage of MRI. We established a literature based distal myopathies MRI pattern template and assessed its diagnostic utility in terms
more » ... sensitivity, specificity, and potential impact on the diagnostic workup. Results: Fifty-five patients were included; in 38 with a comprehensive set of data the diagnostic work-up was audited. The median time from symptoms onset to diagnosis was 12.1 years. The initial genetic diagnostic rate was 39%; 18% were misdiagnosed as neuropathies and 13% as inclusion body myositis (IBM). Based on 21 publications we established a MRI pattern template. Its overall sensitivity (50%) and specificity (32%) were low. However in some diseases (e.g., MYOT-related myopathy, TTN-HMERF) MRI correctly identified the causative gene. The number of genes suggested by MRI pattern analysis was smaller compared to clinical work up (median 1 vs. 9, p < 0.0001) but fewer genes were correctly predicted (5/10 vs. 7/10). MRI analysis ruled out IBM in all cases. Conclusion: In the diagnostic work-up of distal myopathies, MRI is useful in assisting genetic testing and avoiding misdiagnosis (IBM). The overall low sensitivity and specificity limits its generalized use when traditional single gene test methods are applied. However, in the context of next generation sequencing MRI may represent a valuable tool for interpreting complex genetic results.
doi:10.3389/fneur.2018.00456 pmid:29997562 pmcid:PMC6028608 fatcat:resusdlstjekdl6hirlwgjpa5e

Wisdom tooth extraction causing lingual nerve and styloglossus muscle damage: a mimic of multiple cranial nerve palsies

Aisling S Carr, Matthew Evans, Sachit Shah, Santi Catania, Jason D Warren, Michael J Gleeson, Mary M Reilly
2017 Practical Neurology  
The combination of tongue hemiasthesia, dysguesia, dysarthria and dysphagia suggests the involvement of multiple cranial nerves. Here we present a case with sudden onset of these symptoms immediately following wisdom tooth extraction and highlight the clinical features allowing for localisation of the lesion to a focal, iatrogenic injury of the lingual nerve and adjacent styloglossus muscle.
doi:10.1136/practneurol-2016-001491 pmid:28242629 fatcat:fxi2tdxsxrbl5b4l7ikynrmhpq

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity [article]

Uros Klickovic, Luca Zampedri, Christopher Sinclair, Stephen Wastling, Karin Trimmel, Robin Howard, Andrea Malaspina, Nikhil Sharma, Katie Sidle, Ahmed Emira, Sachit Shah, Tarek Yousry (+5 others)
2018 biorxiv/medrxiv   pre-print
Objective: To investigate the use of muscle MRI for the differential diagnosis and as a disease progression biomarker for two major forms of motor neuron disorders, spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS). Methods: We applied quantitative 3-point Dixon and semi-quantitative T1-weighted and STIR imaging to bulbar and lower limb muscles and performed clinical and functional assessments in ALS (n=21) and SBMA (n=21) patients, alongside healthy controls (n=16).
more » ... Acquired images were analyzed for the presence of fat infiltration or edema as well as specific patterns of muscle involvement. Quantitative MRI measurements were correlated with clinical parameters of disease severity in ALS and SBMA. Results: Quantitative imaging revealed significant fat infiltration in bulbar (p<0.001) and limb muscles in SBMA compared to controls (thigh: p<0.001; calf: p=0.001), identifying a characteristic pattern of muscle involvement. In ALS, semi-quantitative STIR imaging detected marked hyperintensities in lower limb muscles, distinguishing ALS from SBMA and controls. Lastly, MRI measurements correlated significantly with clinical scales of disease severity in both ALS and SBMA. Conclusions: Our findings show that muscle MRI differentiates between SBMA and ALS and correlates with disease severity, supporting its use as a diagnostic tool and biomarker for disease progression. This highlights the clinical utility of muscle MRI in motor neuron disorders and contributes to establish objective outcome measures, which is crucial for the development of new drugs.
doi:10.1101/486910 fatcat:4abntj77xrcwni6rqaoqtknuxy

Stability and sensitivity of waterT2obtained with IDEAL-CPMG in healthy and fat-infiltrated skeletal muscle

Christopher D.J. Sinclair, Jasper M. Morrow, Robert L. Janiczek, Matthew R.B. Evans, Elham Rawah, Sachit Shah, Michael G. Hanna, Mary M. Reilly, Tarek A. Yousry, John S. Thornton
2016 NMR in Biomedicine  
Quantifying muscle water T 2 (T 2 -water) independently of intramuscular fat content is essential in establishing T 2 -water as an outcome measure for imminent new therapy trials in neuromuscular diseases. IDEAL-CPMG combines chemical shift fat-water separation with T 2 relaxometry to obtain such a measure. Here we evaluate the reproducibility and B 1 sensitivity of IDEAL-CPMG T 2 -water and fat fraction (f.f.) values in healthy subjects, and demonstrate the potential of the method to quantify
more » ... 2 -water variation in diseased muscle displaying varying degrees of fatty infiltration. The calf muscles of 11 healthy individuals (40.5 ± 10.2 years) were scanned twice at 3 T with an inter-scan interval of 4 weeks using IDEAL-CPMG, and 12 patients with hypokalemic periodic paralysis (HypoPP) (42.3 ± 11.5 years) were also imaged. An exponential was fitted to the signal decay of the separated water and fat components to determine T 2 -water and the fat signal amplitude muscle regions manually segmented. Overall mean calf-level muscle T 2 -water in healthy subjects was 31.2 ± 2.0 ms, without significant inter-muscle differences (p = 0.37). Inter-subject and inter-scan coefficients of variation were 5.7% and 3.2% respectively for T 2 -water and 41.1% and 15.4% for f.f. Bland-Altman mean bias and ±95% coefficients of repeatability were for T 2 -water (0.15, −2.65, 2.95) ms and f.f. (−0.02, −1.99, 2.03)%. There was no relationship between T 2 -water (ρ = 0.16, p = 0.07) or f.f. (ρ = 0.03, p = 0.7761) and B 1 error or any correlation between T 2 -water and f.f. in the healthy subjects (ρ = 0.07, p = 0.40). In HypoPP there was a measurable relationship between T 2 -water and f.f. (ρ = 0.59, p < 0.001). IDEAL-CPMG provides a feasible way to quantify T 2 -water in muscle that is reproducible and sensitive to meaningful physiological changes without post hoc modeling of the fat contribution. In patients, IDEAL-CPMG measured elevations in T 2 -water and f.f. while showing a weak relationship between these parameters, thus showing promise as a practical means of quantifying muscle water in patient populations.
doi:10.1002/nbm.3654 pmid:27809381 pmcid:PMC5132140 fatcat:wrji6id6ubfpnaywwclzy42exu

Late onset depression: dopaminergic deficit and clinical features of prodromal Parkinson's disease: a cross-sectional study

Hiba Kazmi, Zuzana Walker, Jan Booij, Faraan Khan, Sachit Shah, Carole H Sudre, Joshua E.J. Buckman, Anette-Eleonore Schrag
2020 Journal of Neurology, Neurosurgery and Psychiatry  
BackgroundLate onset depression (LOD) may precede the diagnosis of Parkinson's disease (PD) or dementia with Lewy bodies (DLB). We aimed to determine the rate of clinical and imaging features associated with prodromal PD/DLB in patients with LOD.MethodsIn a cross-sectional design, 36 patients with first onset of a depressive disorder (Diagnostic and Statistical Manual of Mental Disorders IV criteria) diagnosed after the age of 55 (LOD group) and 30 healthy controls (HC) underwent a detailed
more » ... ical assessment. In addition, 28/36 patients with LOD and 20/30 HC underwent a head MRI and 29/36 and 25/30, respectively, had dopamine transporter imaging by 123I-ioflupane single-photon emission computed tomography (SPECT) imaging. Image analysis of both scans was performed by a rater blind to the participant group. Results of clinical assessments and imaging results were compared between the two groups.ResultsPatients with LOD (n=36) had significantly worse scores than HC (n=30) on the PD screening questionnaire (mean (SD) 1.8 (1.9) vs 0.8 (1.2); p=0.01), Movement Disorder Society Unified Parkinson's Disease Rating Scale total (mean (SD) 19.2 (12.7) vs 6.1 (5.7); p<0.001), REM-sleep behaviour disorder screening questionnaire (mean (SD) 4.3 (3.2) vs 2.1 (2.1); p=0.001), Lille Apathy Rating Scale (mean (SD) −23.3 (9.6) vs −27.0 (4.7); p=0.04) and the Scales for Outcomes in PD-Autonomic (mean (SD) 14.9 (8.7) vs 7.7 (4.9); p<0.001). Twenty-four per cent of patients with LOD versus 4% HC had an abnormal 123I-ioflupane SPECT scan (p=0.04).ConclusionsLOD is associated with increased rates of motor and non-motor features of PD/DLB and of abnormal 123I-ioflupane SPECTs. These results suggest that patients with LOD should be considered at increased risk of PD/DLB.
doi:10.1136/jnnp-2020-324266 pmid:33268471 fatcat:ag4be3gpojb6dno2ayja6jlr6q

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A

Jasper M. Morrow, Matthew R.B. Evans, Tiffany Grider, Christopher D.J. Sinclair, Daniel Thedens, Sachit Shah, Tarek A. Yousry, Michael G. Hanna, Peggy Nopoulos, John S. Thornton, Michael E. Shy, Mary M. Reilly
2018 Neurology  
Sachit Shah: analysis or interpretation of data, accepts responsibility for conduct of research and will give final approval. Tarek A.  ... 
doi:10.1212/wnl.0000000000006214 pmid:30120135 pmcid:PMC6161551 fatcat:hicqk3ilafaxnj6sasbcgev4cy

Characteristics of ischaemic stroke associated with COVID-19

Rahma Beyrouti, Matthew E Adams, Laura Benjamin, Hannah Cohen, Simon F Farmer, Yee Yen Goh, Fiona Humphries, Hans Rolf Jäger, Nicholas A Losseff, Richard J Perry, Sachit Shah, Robert J Simister (+3 others)
2020 Journal of Neurology, Neurosurgery and Psychiatry  
doi:10.1136/jnnp-2020-323586 pmid:32354768 fatcat:rcrqbpmm5bcsvij4kwmf67occu

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

Uros Klickovic, Luca Zampedri, Christopher D.J. Sinclair, Stephen J. Wastling, Karin Trimmel, Robin S. Howard, Andrea Malaspina, Nikhil Sharma, Katie Sidle, Ahmed Emira, Sachit Shah, Tarek A. Yousry (+5 others)
2019 Neurology  
To investigate the use of muscle MRI for the differential diagnosis and as a disease progression biomarker for 2 major forms of motor neuron disorders: spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS).
doi:10.1212/wnl.0000000000008009 pmid:31391248 pmcid:PMC6745729 fatcat:stqmkny7efbvvj7cgg63jab634

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Enrico Bugiardini, Alice L Mitchell, Ilaria Dalla Rosa, Hue-Tran Horning-Do, Alan Pitmann, Olivia V Poole, Janice L Holton, Sachit Shah, Cathy Woodward, Iain Hargreaves, Rosaline Quinlivan, Alexey Amunts (+6 others)
2019 Human Molecular Genetics  
Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respiratory chain capacity; yet, only a few have been linked to dysfunction in the protein components of the mitochondrial ribosomes. Here, we report a subject presenting with dyskinetic cerebral palsy and partial agenesis of the corpus callosum, while
more » ... hemical and biochemical analyses of skeletal muscle revealed signs of mitochondrial myopathy. Using exome sequencing, we identified a homozygous variant c.215C>T in MRPS25, which encodes for a structural component of the 28S small subunit of the mitochondrial ribosome (mS25). The variant segregated with the disease and substitutes a highly conserved proline residue with leucine (p.P72L) that, based on the high-resolution structure of the 28S ribosome, is predicted to compromise inter-protein contacts and destabilize the small subunit. Concordant with the in silico analysis, patient's fibroblasts showed decreased levels of MRPS25 and other components of the 28S subunit. Moreover, assembled 28S subunits were scarce in the fibroblasts with mutant mS25 leading to impaired mitochondrial translation and decreased levels of multiple respiratory chain subunits. Crucially, these abnormalities were rescued by transgenic expression of wild-type MRPS25 in the mutant fibroblasts. Collectively, our data demonstrate the pathogenicity of the p.P72L variant and identify MRPS25 mutations as a new cause of mitochondrial translation defect.
doi:10.1093/hmg/ddz093 pmid:31039582 pmcid:PMC6687946 fatcat:vzx4aoxstvgvzd6awwa4qv67ta
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