scholarly journals Ventricular volume expansion in presymptomatic genetic frontotemporal dementia

Neurology ◽  
2019 ◽  
Vol 93 (18) ◽  
pp. e1699-e1706 ◽  
Author(s):  
Tamara P. Tavares ◽  
Derek G.V. Mitchell ◽  
Kristy Coleman ◽  
Christen Shoesmith ◽  
Robert Bartha ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Volume Expansion ◽  
Time Course ◽  
Automatic Segmentation ◽  
Disease Onset ◽  
Onset Time ◽  
Ventricular Volume ◽  
Mutation Carriers ◽  
Mri Scans

ObjectiveTo characterize the time course of ventricular volume expansion in genetic frontotemporal dementia (FTD) and identify the onset time and rates of ventricular expansion in presymptomatic FTD mutation carriers.MethodsParticipants included patients with a mutation in MAPT, PGRN, or C9orf72, or first-degree relatives of mutation carriers from the GENFI study with MRI scans at study baseline and at 1 year follow-up. Ventricular volumes were obtained from MRI scans using FreeSurfer, with manual editing of segmentation and comparison to fully automated segmentation to establish reliability. Linear mixed models were used to identify differences in ventricular volume and in expansion rates as a function of time to expected disease onset between presymptomatic carriers and noncarriers.ResultsA total of 123 participants met the inclusion criteria and were included in the analysis (18 symptomatic carriers, 46 presymptomatic mutation carriers, and 56 noncarriers). Ventricular volume differences were observed 4 years prior to symptom disease onset for presymptomatic carriers compared to noncarriers. Annualized rates of ventricular volume expansion were greater in presymptomatic carriers relative to noncarriers. Importantly, time-intensive manually edited and fully automated ventricular volume resulted in similar findings.ConclusionsVentricular volume differences are detectable in presymptomatic genetic FTD. Concordance of results from time-intensive manual editing and fully automatic segmentation approaches support its value as a measure of disease onset and progression in future studies in both presymptomatic and symptomatic genetic FTD.

scholarly journals Time course of radiographic hip joint changes in patients with early axial spondyloarthritis

2021 ◽  
Vol 15 (1) ◽  
pp. 46-50
Author(s):  
E. M. Agafonova ◽  
D. G. Rumyantseva ◽  
A. V. Smirnov ◽  
Sh. Erdes
Keyword(s):  
Hip Joint ◽  
Time Course ◽  
Axial Spondyloarthritis ◽  
Disease Onset ◽  
Underlying Disease ◽  
Joint Involvement ◽  
Base Line ◽  
Radiological Progression ◽  
The Mean

The diagnosis of coxitis remains one of the most difficult problems in the management of patients with axial spondyloarthritis (axSpA). In Russia, almost every two patients with axSpA were found to have hip joint (HJ) damage. However, until a certain time, there have been no methods to estimate the rate of progression of radiographic HJ changes in clinical practice. We have previously developed a formula for calculating the rate of coxitis progression, which simplifies the assessment of radiographic HJ changes and allows a physician to make a timely decision about changing therapy if rapidly progressing coxitis is detected.Objective: to estimate the rate of radiological progression of coxitis during a 24-month follow-up of patients with early axSpA.Patients and methods. Examinations were made in 38 patients (20 women and 18 men) who had been followed up for at least 2 years without radiographic and ultrasound signs of HJ joint involvement. The patients' mean age was 28.8±5.5 years; the disease duration was 22.7±15.7 months. HLA-B27 was positive in 35 (92%) patients. The summary stage of radiographic coxitis (ssRC) was used to assess HJ damage; the previously developed formula was applied to estimate the rate of radiological progression of coxitis (R-rpC).Results and discussion. The median cervical-capsular distance (CCD) was 5.2 mm at baseline and 4.9 mm at 2 years (p7 mm increase in the CCD. The mean ssRC was 0.34±0.75 scores at base line, 0.86±0.78 scores at 1 year; and this indicator increased up to 1.24±1.36 scores at 2 years (p=0.004). During 2 years of follow-up, there was no coxitis progression (the difference between ssRC2 and ssRC1 was 0) in 24 (63%) patients; ΔssRC increased by 1 score in 5 (13%); by 2 scores in 6 (16%), and by 4 scores in 3 (8%). On patient inclusion to the investigation, R-rpC averaged 0.5 (it was conventionally assumed that patients had no signs of HJ damage at the disease onset (ssRC=0). During therapy for the underlying disease, the mean R-rpC was 0.3 and 0.2 score/year within the first and second years, respectively. The mean R-rpC in the ΔssRC >0 group was as many as 0.85 score/year at one-year follow-up and 0.53 score/year at two-year follow-up.Conclusion. The developed procedure for estimating the progression of coxitis using ssRC is easy to use and can identify patients at high risk for coxitis progression.

Cognitive and Behavioral Functioning in Childhood Acquired Demyelinating Syndromes

2016 ◽  
Vol 22 (10) ◽  
pp. 1050-1060 ◽  
Author(s):  
Christine Till ◽  
Austin Noguera ◽  
Leonard H. Verhey ◽  
Julia O’Mahony ◽  
E. Ann Yeh ◽  
...  
Keyword(s):  
Time Course ◽  
Binary Classification ◽  
Brain Mri ◽  
Poor Performance ◽  
Brain Lesions ◽  
Cognitive Outcome ◽  
Normative Values ◽  
Visuomotor Integration ◽  
Mri Scans

AbstractObjectives:The aim of this study was to describe cognitive, academic, and psychosocial outcomes after an incident demyelinating event (acquired demyelinating syndromes, ADS) in childhood and to investigate the contribution of brain lesions and confirmed MS diagnosis on outcome.Methods:Thirty-six patients with ADS (mean age=12.2 years,SD=2.7, range: 7–16 years) underwent brain MRI scans at presentation and at 6-months follow-up. T2-weighted lesions on MRI were assessed using a binary classification. At 6-months follow-up, patients underwent neuropsychological evaluation and were compared with 42 healthy controls.Results:Cognitive, academic, and behavioral outcomes did not differ between the patients with ADS and controls. Three of 36 patients (8.3%) were identified with cognitive impairment, as determined by performance falling ≤1.5SDbelow normative values on more than four independent tests in the battery. Poor performance on a visuomotor integration task was most common, observed among 6/32 patients, but this did not differ significantly from controls. Twelve of 36 patients received a diagnosis of MS within 3 years post-ADS. Patients with MS did not differ from children with monophasic ADS in terms of cognitive performance at the 6-months follow-up. Fatigue symptoms were reported in 50% of patients, irrespective of MS diagnosis. Presence of brain lesions at onset and 6 months post-incident demyelinating event did not associate with cognitive outcome.Conclusions:Children with ADS experience a favorable short-term neurocognitive outcome, even those confirmed to have MS. Longitudinal evaluations of children with monophasic ADS and MS are required to determine the possibility of late-emerging sequelae and their time course. (JINS, 2016,22, 1050–1060)

scholarly journals Increasing incidence of parosmia and phantosmia in patients recovering from COVID-19 smell loss

2021 ◽  
Author(s):  
Kathrin Ohla ◽  
Maria Geraldine Veldhuizen ◽  
Tomer Green ◽  
Mackenzie E. Hannum ◽  
Alyssa J. Bakke ◽  
...  
Keyword(s):  
Mental Health ◽  
Time Course ◽  
Treatment Options ◽  
Disease Onset ◽  
Healthcare Providers ◽  
Olfactory Dysfunction ◽  
Self Report ◽  
Physical And Mental Health ◽  
Smell Loss

AbstractImportanceSudden smell loss is a specific early symptom of COVID-19, with an estimated prevalence of ~40% to 75%. Smell impairment affects physical and mental health, and dietary behavior. Thus, it is critical to understand the rate and time course of smell recovery.ObjectiveTo characterize smell function and recovery up to 11 months post COVID-19 infection.Settings, ParticipantsThis longitudinal survey of individuals suffering COVID-19-related smell loss assessed disease symptoms and gustatory and olfactory function. Participants (n=12,313) who completed an initial respiratory symptoms, chemosensory function and COVID-19 diagnosis survey (S1) between April and September 2020 and completed a follow-up survey (S2) between September 2020 and February 2021; 27.5% participants responded (n=3,386), with 1,468 being diagnosed with COVID-19 and suffering co-occurring smell and taste loss at the beginning of their illness.Main Outcomes & MeasuresPrimary outcomes are ratings of smell and taste function on a visual analog scale, and self-report of parosmia (smell distortions) and phantosmia (unexplained smells). Secondary outcomes include a checklist of other COVID-19 symptoms.ResultsOn follow-up (median time since COVID-19 onset ~200 days), ~60% of women and ~48% of men reported less than 80% of their pre-illness smell ability. Taste typically recovered faster than smell, and taste loss rarely persisted if smell recovered. Prevalence of parosmia and phantosmia was ~10% of participants in S1 and increased substantially in S2: ~47% for parosmia and ~25% for phantosmia. Persistent smell impairment was associated with more symptoms overall, suggesting it may be a key marker of long-COVID. During COVID-19 illness, the ability to smell was slightly lower among those who did not recover their pre-illness ability to smell at S2.Conclusions and RelevanceWhile smell loss improves for many individuals who lost it due to COVID-19, the prevalence of parosmia and phantosmia increases substantially over time. Olfactory dysfunction is also associated with wider COVID-19 symptoms and may persist for many months after COVID-19 onset. Taste loss in the absence of smell loss is rare. Persistent qualitative smell symptoms are emerging as common long term sequelae; more research into treatment options is strongly warranted given that conservative estimates suggest millions of individuals may experience parosmia following COVID-19. Healthcare providers worldwide need to be prepared to treat post COVID-19 secondary effects on physical and mental health.Trial registrationThis project was pre-registered at OSF: https://osf.io/3e6zc.Graphical abstractKey PointsQuestionWhat are the characteristics of smell and taste recovery of COVID-19 patients?FindingsIn this preregistered observational study of 1,468 participants, smell loss is associated with a higher number of COVID-19 symptoms, and may persist for at least 11 months following disease onset. While a majority of participants report quantitative improvement in their ability to smell, the prevalence of parosmia and phantosmia increases substantially at follow-up. Taste recovers faster than smell, suggesting taste and smell recover separately and can be distinguished by the respondents.MeaningOlfactory dysfunction appears to be a component of long-COVID, with parosmia as a prominent symptom in almost half of those with smell loss. More research into treatment is needed, especially given that olfactory dysfunction is associated with depression and loss of appetite. Health professionals should be aware of these common and long lasting effects.

A multimodal MRI-based classification signature emerges just prior to symptom onset in frontotemporal dementia mutation carriers

2019 ◽  
Vol 90 (11) ◽  
pp. 1207-1214 ◽  
Author(s):  
Rogier A Feis ◽  
Mark J R J Bouts ◽  
Frank de Vos ◽  
Tijn M Schouten ◽  
Jessica L Panman ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Symptom Onset ◽  
Diffusion Tensor ◽  
Classification Model ◽  
Model Classification ◽  
Mutation Carriers ◽  
Classification Score ◽  
Multimodal Mri ◽  
Over Time

BackgroundMultimodal MRI-based classification may aid early frontotemporal dementia (FTD) diagnosis. Recently, presymptomatic FTD mutation carriers, who have a high risk of developing FTD, were separated beyond chance level from controls using MRI-based classification. However, it is currently unknown how these scores from classification models progress as mutation carriers approach symptom onset. In this longitudinal study, we investigated multimodal MRI-based classification scores between presymptomatic FTD mutation carriers and controls. Furthermore, we contrasted carriers that converted during follow-up (‘converters’) and non-converting carriers (‘non-converters’).MethodsWe acquired anatomical MRI, diffusion tensor imaging and resting-state functional MRI in 55 presymptomatic FTD mutation carriers and 48 healthy controls at baseline, and at 2, 4, and 6 years of follow-up as available. At each time point, FTD classification scores were calculated using a behavioural variant FTD classification model. Classification scores were tested in a mixed-effects model for mean differences and differences over time.ResultsPresymptomatic mutation carriers did not have higher classification score increase over time than controls (p=0.15), although carriers had higher FTD classification scores than controls on average (p=0.032). However, converters (n=6) showed a stronger classification score increase over time than non-converters (p<0.001).ConclusionsOur findings imply that presymptomatic FTD mutation carriers may remain similar to controls in terms of MRI-based classification scores until they are close to symptom onset. This proof-of-concept study shows the promise of longitudinal MRI data acquisition in combination with machine learning to contribute to early FTD diagnosis.

Prediction of lymph node metastase in NSCLC

2010 ◽  
Vol 01 (05) ◽  
pp. 219-226 ◽  
Author(s):  
F. Beyer ◽  
B. Buerke ◽  
J. Gerss ◽  
K. Scheffe ◽  
M. Puesken ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Fdg Pet ◽  
Automatic Segmentation ◽  
Correlation Coefficients ◽  
Mediastinal Lymph Nodes ◽  
Intra Class Correlation ◽  
Axial Diameter ◽  
Pet Ct ◽  
Fdg Pet Ct

SummaryPurpose: To distinguish between benign and malignant mediastinal lymph nodes in patients with NSCLC by comparing 2D and semiautomated 3D measurements in FDG-PET-CT.Patients, material, methods: FDG-PET-CT was performed in 46 patients prior to therapy. 299 mediastinal lymph-nodes were evaluated independently by two radiologists, both manually and by semi-automatic segmentation software. Longest-axial-diameter (LAD), shortest-axial-diameter (SAD), maximal-3D-diameter, elongation and volume were obtained. FDG-PET-CT and clinical/FDG-PET-CT follow up examinations and/or histology served as the reference standard. Statistical analysis encompassed intra-class-correlation-coefficients and receiver-operator-characteristics-curves (ROC). Results: The standard of reference revealed involvement in 87 (29%) of 299 lymph nodes. Manually and semi-automatically measured 2D parameters (LAD and SAD) showed a good correlation with mean

BioMime – A Sirolimus-eluting Coronary Stent System for the Treatment of Patients with De Novo Coronary Lesions – meriT-1 Report

2011 ◽  
Vol 6 (1) ◽  
pp. 39
Author(s):  
Keyword(s):  
Stent Thrombosis ◽  
Time Course ◽  
De Novo ◽  
Drug Eluting Stent ◽  
Cobalt Chromium ◽  
Cardiac Events ◽  
End Points ◽  
Safety And Efficacy ◽  
Binary Restenosis

Background:Since the first reported use of percutaneous transluminal coronary angioplasty, advances in the interventional cardiology arena have been fast paced. Developers and clinicians are adapting from the learning curve awarded by the time-course of drug-eluting stent (DES) evolution. BioMime™ sirolimus-eluting stent (SES) is a step towards biomimicry. The stent is built on a strut of ultra-low thickness (65μm), a cobalt–chromium platform using an intelligent hybrid of closed and open cells allowing for morphology-mediated expansion. It employs a well-known antiproliferative – sirolimus – that elutes from a known biodegradable copolymer formulation within 30 days. The resultant stent demonstrates almost 100% endothelialisation at 30 days in preclinical models.Methods:The meriT-1 was a prospective, single-arm, single-centre trial to evaluate the safety and efficacy of BioMime SES in 30 patients with a single de novo lesion in native coronary arteries. The primary safety and efficacy end-points were major adverse cardiac events (MACE) at 30 days and in-stent late lumen loss at eight months, as measured using quantitative coronary angiographic (QCA) method. Secondary safety and efficacy end-points included MACE at one and two years and angiographic binary restenosis at eight-month angiographic follow-up. Other end-points included the occurrence of stent thrombosis at acute, subacute, late and very late periods and the percentage of diameter stenosis by QCA.Results:No MACE were observed and the median in-stent late luminal loss in 20 (67%) subjects studied by QCA was 0.15mm, with 0% binary restenosis at eight-month follow-up. No stent thrombosis was observed up to one-year follow-up.Conclusions:In comparison to currently available DES, BioMime SES appears to have a considerable scientific basis for prevention of neointimal proliferation, restenosis and associated clinical events.

Paranasal Sinus Mucocele Clinical, imagistic and biochemical aspects

2018 ◽  
Vol 69 (8) ◽  
Author(s):  
Doina Vesa ◽  
Cristian Martu ◽  
Razvan Leata ◽  
Ludmila Lozneanu ◽  
luminita Radulescu ◽  
...  
Keyword(s):  
Facial Asymmetry ◽  
Retrospective Case ◽  
Mri Scans ◽  
The One ◽  
Ethmoid Sinuses ◽  
Retrospective Case Study ◽  
Cellular Components ◽  
Ct And Mri

Paranasal mucoceles are a type of cysts that evolve slowly and are asymptomatic; this poses a difficulty in diagnosing the patient because the symptoms can go unnoticed. The mucocele evolves unpredictably. On the one hand, it can become infected turning into pyoceles and on the other hand, it can invade important regions such as the orbital, cranial or genian regions, creating facial asymmetry. This is a retrospective case study of 37 patients diagnosed with sinus mucoceles, followed up by clinical examination and paraclinical tests such as CT and MRI scans. The biochemical components of the liquid from within the mucocele were analyzed and the following criteria were recorded: NaCl-, Cl-, Na+ and cholesterine as well as cellular components such as mastocytes, macrophages, hematocytes and leucocytes. In all cases, the treatment option was surgery with favorable post-operative and follow-up evaluation. The mucoceles that appeared post-operatively (maxillary and ethmoid sinuses) evolved more rapidly than the mucoceles that were induced byan external injury. Longer follow-up of operated patients permitted a more timely diagnosis of recurrences.

scholarly journals Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia

2021 ◽  
pp. jnnp-2020-323541
Author(s):  
Jessica L Panman ◽  
Vikram Venkatraghavan ◽  
Emma L van der Ende ◽  
Rebecca M E Steketee ◽  
Lize C Jiskoot ◽  
...  
Keyword(s):  
White Matter ◽  
Frontotemporal Dementia ◽  
Disease Severity ◽  
Grey Matter ◽  
Clinical Stage ◽  
Data Driven ◽  
Grey Matter Volume ◽  
Matter Volume ◽  
Mutation Carriers ◽  
Individual Disease

ObjectiveProgranulin-related frontotemporal dementia (FTD-GRN) is a fast progressive disease. Modelling the cascade of multimodal biomarker changes aids in understanding the aetiology of this disease and enables monitoring of individual mutation carriers. In this cross-sectional study, we estimated the temporal cascade of biomarker changes for FTD-GRN, in a data-driven way.MethodsWe included 56 presymptomatic and 35 symptomatic GRN mutation carriers, and 35 healthy non-carriers. Selected biomarkers were neurofilament light chain (NfL), grey matter volume, white matter microstructure and cognitive domains. We used discriminative event-based modelling to infer the cascade of biomarker changes in FTD-GRN and estimated individual disease severity through cross-validation. We derived the biomarker cascades in non-fluent variant primary progressive aphasia (nfvPPA) and behavioural variant FTD (bvFTD) to understand the differences between these phenotypes.ResultsLanguage functioning and NfL were the earliest abnormal biomarkers in FTD-GRN. White matter tracts were affected before grey matter volume, and the left hemisphere degenerated before the right. Based on individual disease severities, presymptomatic carriers could be delineated from symptomatic carriers with a sensitivity of 100% and specificity of 96.1%. The estimated disease severity strongly correlated with functional severity in nfvPPA, but not in bvFTD. In addition, the biomarker cascade in bvFTD showed more uncertainty than nfvPPA.ConclusionDegeneration of axons and language deficits are indicated to be the earliest biomarkers in FTD-GRN, with bvFTD being more heterogeneous in disease progression than nfvPPA. Our data-driven model could help identify presymptomatic GRN mutation carriers at risk of conversion to the clinical stage.

scholarly journals Bone mineral density and explanatory factors in children and adults with juvenile dermatomyositis at long term follow-up; a cross sectional study

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Henriette Schermacher Marstein ◽  
Kristin Godang ◽  
Berit Flatø ◽  
Ivar Sjaastad ◽  
Jens Bollerslev ◽  
...  
Keyword(s):  
Bone Turnover ◽  
Inflammatory Markers ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Disease Onset ◽  
Whole Body ◽  
Mineral Density ◽  
Z Scores

Abstract Background Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children and adolescents. Both the disease and its treatment with glucocorticoids may negatively impact bone formation. In this study we compare BMD in patients (children/adolescence and adults) with long-standing JDM with matched controls; and in patients, explore how general/disease characteristics and bone turnover markers are associated with BMD. Methods JDM patients (n = 59) were examined median 16.8y (range 6.6–27.0y) after disease onset and compared with 59 age/sex-matched controls. Dual-energy X-ray absorptiometry (DXA) was used to measure BMD of the whole body and lumbar spine (spine) in all participants, and of ultra-distal radius, forearm and total hip in participants ≥20y only. Markers of bone turnover were analysed, and associations with outcomes explored. Results Reduced BMD Z-scores (<−1SD) were found in 19 and 29% of patients and 7 and 9% of controls in whole body and spine, respectively (p-values < 0.05). BMD and BMD Z-scores for whole body and spine were lower in all patients and for < 20y compared with their respective controls. In participants ≥20y, only BMD and BMD Z-score of forearm were lower in the patients versus controls. In patients, BMD Z-scores for whole body and/or spine were found to correlate negatively with prednisolone use at follow-up (yes/no) (age < 20y), inflammatory markers (age ≥ 20y) and levels of interferon gamma-induced protein 10 (IP-10) (both age groups). In all patients, prednisolone use at follow-up (yes/no) and age ≥ 20y were independent correlates of lower BMD Z-scores for whole body and spine, respectively. Conclusion In long-term JDM, children have more impairment of BMD than adults in spine and whole-body. Associations with BMD were found for both prednisolone and inflammatory markers, and a novel association was discovered with the biomarker of JDM activity, IP-10.

The Effects of Mean of Visit-to-Visit Blood Pressure on Incident Brain Vascular Lesions and Functional-Cognitive Decline

2021 ◽  
pp. 1-12
Author(s):  
Bibek Gyanwali ◽  
Celestine Xue Ting Cai ◽  
Christopher Chen ◽  
Henri Vrooman ◽  
Chuen Seng Tan ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Cognitive Decline ◽  
Hippocampal Volume ◽  
Intracranial Stenosis ◽  
Vascular Lesions ◽  
Linear Regression Models ◽  
Volume Functional ◽  
Mri Scans ◽  
The Mean

Background: Cerebrovascular disease (CeVD) is an underlying cause of cognitive impairment and dementia. Hypertension is a known risk factor of CeVD, but the effects of mean of visit-to-visit blood pressure (BP) on incident CeVD and functional-cognitive decline remains unclear. Objective: To determine the association between mean of visit-to-visit BP with the incidence and progression of CeVD [white matter hyperintensities (WMH), infarcts (cortical infarcts and lacunes), cerebral microbleeds (CMBs), intracranial stenosis, and hippocampal volume] as well as functional-cognitive decline over 2 years of follow-up. Methods: 373 patients from a memory-clinic underwent BP measurements at baseline, year 1, and year 2. The mean of visit-to-visit systolic BP, diastolic BP, pulse pressure, and mean arterial pressure were calculated. Baseline and year 2 MRI scans were graded for WMH, infarcts, CMBs, intracranial stenosis, and hippocampal volume. Functional-cognitive decline was assessed using locally validated protocol. Logistic and linear regression models with odds ratios, mean difference, and 95%confidence interval were constructed to analyze associations of visit-to-visit BP on CeVD incidence and progression as well as functional-cognitive decline. Results: Higher mean of visit-to-visit diastolic BP was associated with WMH progression. Higher tertiles of diastolic BP was associated with WMH progression and incident CMBs. There was no association between mean of visit-to-visit BP measures with incident cerebral infarcts, intracranial stenosis, change in hippocampal volume, and functional-cognitive decline. Conclusion: These findings suggest the possibility of hypertension-related vascular brain damage. Careful monitoring and management of BP in elderly patients is essential to reduce the incidence and progression of CeVD.

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