No major association of A poE genotype with disease characteristics and MRI findings in multiple sclerosis

2004 ◽  
Vol 10 (3) ◽  
pp. 272-277 ◽  
Author(s):  
J NP Zwemmer ◽  
T van Veen ◽  
L van Winsen ◽  
G J van Kamp ◽  
F Barkhof ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Severity ◽  
Disease Susceptibility ◽  
Age At Onset ◽  
Clinical Findings ◽  
Minor Role ◽  
Published Data ◽  
Genotype Distribution ◽  
Mri Findings ◽  
A Minor

Background: Whereas a number of studies suggest that the A poE polymorphism is not associated with disease susceptibility in multiple sclerosis (MS), results with regard to disease severity, however, are conflicting. Some studies suggest an unfavourable role of the 4 allele. This study was performed to assess the association of the A poE polymorphism with both disease susceptibility and disease course in a large group of MS patients using clinical and MRI measures. In addition the data were combined with available data from the literature. Methods: In a group of 408 patients with clinically definite MS, genotype distribution was compared with that of 144 healthy controls. C ombined analysis of published data on the association of A poE polymorphism with MS was performed. Demographic and clinical findings were recorded and related to the A poE genotype. In a subgroup, longitudinal MRI findings were available and related to the A poE genotype. Results: No significant differences were found in the distribution of genotypes between MS patients and controls. C ombined analysis of published data showed a slightly increased susceptibility for MS in 2-carriers. Disease character istics (including age at onset and onset type), disease severity (progression index, time to reach EDSS 6) and MRI findings (lesion volumes and atrophy measures) were not associated with carriership o 2 or 4. Conclusions: In this cohort no association of the A poE genotype with disease susceptibility nor clinical and MRI measures could be identified. However, combined analysis of published data could not definitely exclude the possibility of a minor role for 2-carriership in MS.

Increased incidence of multiple sclerosis in the Veneto region, Italy

2013 ◽  
Vol 19 (5) ◽  
pp. 601-604 ◽  
Author(s):  
M Puthenparampil ◽  
D Seppi ◽  
F Rinaldi ◽  
L Federle ◽  
M Calabrese ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Age At Onset ◽  
Geographical Area ◽  
Progressive Increase ◽  
Published Data ◽  
Diagnosis Delay ◽  
Sources Of Information ◽  
Increased Risk ◽  
Exogenous Factors ◽  
Actual Prevalence

Background: To what extent the progressive increase in the incidence of multiple sclerosis (MS) observed in the province of Padova over the period 1970–1999 was an expression of a real increased risk of developing MS remained unclear. Objective: The objective of this paper is to update the epidemiological figures of MS and probe whether the risk of having MS has increased in the province of Padova during the decade 2000–2009. Methods: All patients born in Italy and having a diagnosis of MS or possible MS identified through analysis of all available sources of information were included in the study. The incidence and prevalence rates between 2000 and 2009 were obtained and compared with our previously published data. Results: On 31 December 2009, the overall prevalence was 139.5/100,000, 192.0±9.5 for females and 83.9±6.3 for males. During the decade 2000–2009, the overall incidence rate of MS was 5.5±0.5, 7.4±0.8 for females and 3.5±0.6 for males. The onset-diagnosis delay, the female/male ratio and the mean age at onset did not significantly change compared to the prior period of observation. Conclusion: Our findings support the hypothesis of a real increased risk of developing MS in the province of Padova. Moreover, the actual prevalence of 1.4/1000 makes our region a high-risk geographical area for MS. The role played by exogenous factors in determining susceptibility to MS needs to be thoroughly investigated.

Discrepancies in the interpretation of clinical symptoms and signs in the diagnosis of multiple sclerosis. A proposal for standardization

2005 ◽  
Vol 11 (2) ◽  
pp. 227-231 ◽  
Author(s):  
Bernard MJ Uitdehaag ◽  
Ludwig Kappos ◽  
Lars Bauer ◽  
Mark S Freedman ◽  
David Miller ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Clinical Symptoms ◽  
Clinical Findings ◽  
Large Trial ◽  
Mri Findings ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Eligibility Assessment

The new McDonald diagnostic criteria for multiple sclerosis (MS) incorporate detailed criteria for the interpretation and classification of magnetic resonance imaging (MRI) findings, but, in contrast, provide no instructions for the interpretation of clinical findings. Because MS according to the McDonald criteria is one of the primary endpoints in a large trial enrolling patients after the first manifestation suggestive for a demyelinating disease (BENEFIT study), it was decided to organize a centralized eligibility assessment for this trial. During this eligibility assessment it was observed that there were marked inconsistencies in the decisions of participating neurologists with respect to the classification of clinical symptoms as being caused by one or more lesions provoking discussions in about one in every five patients. This paper describes these inconsistencies and their sources, and recommends a systematic approach that attempts to reduce the variability in interpreting clinical findings.

Vestibular evoked myogenic potentials in multiple sclerosis: clinical and imaging correlations

2004 ◽  
Vol 10 (3) ◽  
pp. 316-321 ◽  
Author(s):  
D Alpini ◽  
L Pugnetti ◽  
D Caputo ◽  
F Cornelio ◽  
S Capobianco ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Signs ◽  
Clinical Findings ◽  
Vestibular Evoked Myogenic Potentials ◽  
Vestibular Disorders ◽  
Mri Findings ◽  
Mean Delay ◽  
Stance Control ◽  
Specific Skill ◽  
Prolonged Latency

Patients with multiple sclerosis (MS) frequently report symptoms related to vestibular disorders in the course of their disease. At present, the fundamental tests assessing vestibulospinal involvement are posturography and vestibular evoked myogenic potentials (VEMPs). While posturography cannot be performed in every subject requiring minimal stance control, VEMPs do not require any specific skill on the part of the subjects and they may be investigated in all patients able to sit. VEMPs were recorded for 40 patients (17 men, 23 women; mean age 38 years, range 17-71 years) fulfilling diagnostic criteria of clinically defined MS, by means of rarefaction clicks, recording modulation of sterno-cleido-mastoideus tonic contraction saccule-mediated modulation. VEMPs were found to be abnormal in 28 of 40 patients. In 18 of the cases the VEMPs were asymmetric, i.e., had a prolonged latency on one side. In six cases latency was increased on both sides (mean delay 4.1 ms). In four subjects VEMPs were absent on one side. C oncordance with clinical findings of presence/absence of brainstem involvement was found in 55% and with MRI findings in 65% of the cases. A bnormal VEMPs indicated brainstem dysfunction in four patients (10%) with normal MRI and no specific clinical signs.

scholarly journals Aetiology of MDS: With a Focus on Hereditary Predisposition

Hemato ◽  
2021 ◽  
Vol 3 (1) ◽  
pp. 17-37
Author(s):  
Anjum B. Khan ◽  
David Bowen
Keyword(s):  
Age At Onset ◽  
Later Life ◽  
Germline Mutations ◽  
Minor Role ◽  
Age Group ◽  
Biological Factors ◽  
Age Related ◽  
Hereditary Disorders ◽  
A Minor ◽  
Eighth Decade

Myelodysplastic syndromes affect an older age group with a median age at onset in the eighth decade of life. As such, there is a relationship between the pathogenesis of MDS and age-related processes affecting haematopoietic stem/progenitor cells and/or the bone marrow microenvironment. MDS with an onset in younger people may be associated with recognised hereditary myeloid malignancy syndromes, and ‘forme fruste’ presentations of inherited syndromes in later life are now increasingly recognised such as germline mutations in DDX41. The considerable clinical and research interest in hereditary disorders is reflected in the relative emphasis within our manuscript. Prior chemo/radiotherapy is a clear cause of MDS but the predisposition factors for therapy-related MDS remain unclear. Clonal haematopoiesis is common in older people and may evolve to MDS, although once again, the biological factors driving this evolution are largely unknown. Finally, environmental exposure to genotoxic agents is likely to play only a minor role in the contemporary occupational/recreational setting.

scholarly journals Towards the Understanding of Hydrogeochemical Seismic Responses in Karst Aquifers: A Retrospective Meta-Analysis Focused on the Apennines (Italy)

Minerals ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1058
Author(s):  
Gilberto Binda ◽  
Andrea Pozzi ◽  
Alessandro M. Michetti ◽  
Paula J. Noble ◽  
Michael R. Rosen
Keyword(s):  
Meta Analysis ◽  
Monitoring Network ◽  
Solute Concentration ◽  
Minor Role ◽  
Published Data ◽  
Permeability Enhancement ◽  
Set Up ◽  
Different Response ◽  
A Minor

Earthquakes are known to affect groundwater properties, yet the mechanisms causing chemical and physical aquifer changes are still unclear. The Apennines mountain belt in Italy presents a rich literature of case studies documenting hydrogeochemical response to seismicity, due to the high frequency of seismic events and the presence of different regional aquifers in the area. In this study, we synthesize published data from the last 30 years in the Apennine region in order to shed light on the main mechanisms causing earthquake induced water changes. The results suggest the geologic and hydrologic setting specific to a given spring play an important role in spring response, as well as the timing of the observed response. In contrast to setting, the main focal mechanisms of earthquake and the distance between epicenter and the analyzed springs seems to present a minor role in defining the response. The analysis of different response variables, moreover, indicates that an important driver of change is the degassing of CO2, especially in thermal springs, whereas a rapid increase in solute concentration due to permeability enhancement is observable in different cold and shallow springs. These findings also leave open the debate regarding whether earthquake precursors can be recognized beyond site-specific responses. Such responses can be understood more comprehensively through the establishment of a regional long-term monitoring system and continuous harmonization of data and sampling strategies, achievable in the Apennine region through the set-up of a monitoring network.

scholarly journals Pubertal Growth and Final Height in Hypopituitary Boys: A Minor Role of Bone Age at Onset of Puberty*

1986 ◽  
Vol 63 (2) ◽  
pp. 376-382 ◽  
Author(s):  
JEAN-PIERRE BOURGUIGNON ◽  
MARK VANDEWEGHE ◽  
MAGDA VANDERSCHUEREN-LODEWEYCKX ◽  
PAUL MALVAUX ◽  
RENÉE WOLTER ◽  
...  
Keyword(s):  
Final Height ◽  
Age At Onset ◽  
Bone Age ◽  
Minor Role ◽  
Pubertal Growth ◽  
A Minor

scholarly journals Pediatric Multiple Sclerosis Severity Score in a large US cohort

Neurology ◽  
2020 ◽  
Vol 95 (13) ◽  
pp. e1844-e1853
Author(s):  
Jonathan D. Santoro ◽  
Michael Waltz ◽  
Greg Aaen ◽  
Anita Belman ◽  
Leslie Benson ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Retrospective Analysis ◽  
Disease Severity ◽  
Severity Score ◽  
Functional Score ◽  
Published Data ◽  
Pediatric Multiple Sclerosis ◽  
Severity Scores ◽  
The Us ◽  
Duration Of Disease

ObjectiveTo characterize disease severity and distribution of disability in pediatric-onset multiple sclerosis (POMS) and to develop an optimized modeling scale for measuring disability, we performed a multicenter retrospective analysis of disability scores in 873 persons with POMS over time and compared this to previously published data in adults with multiple sclerosis (MS).MethodsThis was a retrospective analysis of prospectively collected data collected from 12 centers of the US Network of Pediatric MS Centers. Patients were stratified by the number of years from first symptoms of MS to Expanded Disability Status Scale (EDSS) assessment and an MS severity score (Pediatric Multiple Sclerosis Severity Score [Ped-MSSS]) was calculated per criteria developed by Roxburgh et al. in 2005.ResultsIn total, 873 patients were evaluated. In our cohort, 52%, 19.4%, and 1.5% of all patients at any time point reached an EDSS of 2.0, 3.0, and 6.0. Comparison of our Ped-MSSS scores and previously published adult Multiple Sclerosis Severity Scores (MSSS) showed slower progression of Ped-MSSS with increasing gaps between higher EDSS score and years after diagnosis. Decile scores in our POMS cohort for EDSS of 2.0, 3.0, and 6.0 were 8.00/9.46/9.94, 7.86/9.39/9.91, and 7.32/9.01/9.86 at 2, 5, and 10 years, respectively. Notable predictors of disease progression in both EDSS and Ped-MSSS models were ever having a motor relapse and EDSS at year 1. Symbol Digit Modalities Test (SDMT) scores were inversely correlated with duration of disease activity and cerebral functional score.ConclusionsPersons with POMS exhibit lower EDSS scores compared to persons with adult-onset MS. Use of a Ped-MSSS model may provide an alternative to EDSS scoring in clinical assessment of disease severity and disability accrual.

Sign in / Sign up

Export Citation Format

Share Document