Time to diagnosis in multiple sclerosis: Epidemiological data from the German Multiple Sclerosis Registry

2021 ◽  
pp. 135245852110397
Author(s):  
Stefan J Blaschke ◽  
David Ellenberger ◽  
Peter Flachenecker ◽  
Kerstin Hellwig ◽  
Friedemann Paul ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Epidemiological Data ◽  
Primary Analysis ◽  
Younger Adults ◽  
Mcdonald Criteria ◽  
Time To Diagnosis ◽  
The Mean ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Modifying Treatment ◽  
Mean Time

Objective: To investigate the time to diagnosis in multiple sclerosis (MS) in Germany. Methods: Analysis of real-world registry data from the German Multiple Sclerosis Registry (GMSR) and performing a primary analysis in patients where month-specific registration of the dates of onset and diagnosis was available. Results: As of January 2020, data of a total of 28,658 patients with MS were extracted from the GMSR, with 9836 patients included in the primary analysis. The mean time to diagnosis was shorter following the introduction of the first magnetic resonance imaging (MRI)-based McDonald criteria in 2001. This effect was most pronounced in younger adults below the age of 40 years with relapsing onset multiple sclerosis (ROMS), with a decrease from 1.9 years in 2010 to 0.9 years in 2020, while unchanged in patients aged 40–50 years (1.4 years in 2010 and 1.3 years in 2020). In the limited number of paediatric onset MS patients, the time to diagnosis was longer and did not change (2.9 years). Conclusion: The current sensitive MRI-based diagnostic criteria have likely contributed to an earlier diagnosis of MS in Germany in younger adults aged 18–39 years with ROMS. Whether this translated to earlier initiation of disease-modifying treatment or had a beneficial effect on patient outcomes remains to be demonstrated.

Clinical characteristics and outcome of multiple sclerosis in Korea: does multiple sclerosis in Korea really differ from that in the Caucasian populations?

2013 ◽  
Vol 19 (11) ◽  
pp. 1493-1498 ◽  
Author(s):  
Su-Hyun Kim ◽  
So-Young Huh ◽  
Woojun Kim ◽  
Min Su Park ◽  
Suk-Won Ahn ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Characteristics ◽  
Age Of Onset ◽  
Disease Onset ◽  
Western Countries ◽  
Mcdonald Criteria ◽  
Disability Status ◽  
Referral Hospitals ◽  
The Mean ◽  
Magnetic Resonance Imaging Mri

Background: Multiple sclerosis (MS) in Asia is thought to have different clinical characteristics from MS in Western countries; however, previous studies in Asia were performed without properly differentiating neuromyelitis optica (NMO) from MS. Objectives: To evaluate the clinical characteristics of MS in Korea after careful exclusion of potential explanations other than MS, particularly NMO spectrum disorder (NMOSD). Methods: This study is a retrospective review of consecutive MS patients attending five referral hospitals in Korea. All patients’ MS diagnoses were re-evaluated. Results: Of the 105 patients, 70 were female and 35 were male. The mean age of onset was 30.4 years and the mean disease duration was 5.4 years. On initial magnetic resonance imaging (MRI), 58% and 64% fulfilled the criteria for dissemination in space for the 2005 and 2010 McDonald criteria, respectively. Spinal cord lesions were observed in 78% of patients, primarily present as multiple small lesions with a mean length of 0.9 vertebral segments. The median time from disease onset to an Expanded Disability Status Scale 6 was 20 years. Conclusions: After careful exclusion of NMOSD, we found that the clinical pattern of MS in Korea does not fundamentally differ from that seen in Western countries.

scholarly journals Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

2021 ◽  
Vol 9 (1) ◽  
pp. 2
Author(s):  
Laura Pezzoli ◽  
Lidia Pezzani ◽  
Ezio Bonanomi ◽  
Chiara Marrone ◽  
Agnese Scatigno ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Molecular Diagnosis ◽  
Clinical Management ◽  
Genetic Diagnosis ◽  
Family Management ◽  
Whole Exome ◽  
Time To Diagnosis ◽  
The Mean ◽  
Mean Time

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.

Early predictors of multiple sclerosis after a typical clinically isolated syndrome

2014 ◽  
Vol 20 (13) ◽  
pp. 1721-1726 ◽  
Author(s):  
Aurélie Ruet ◽  
Georgina Arrambide ◽  
Bruno Brochet ◽  
Cristina Auger ◽  
Eva Simon ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
At Risk ◽  
High Specificity ◽  
Clinically Isolated Syndrome ◽  
Oligoclonal Bands ◽  
Mcdonald Criteria ◽  
Early Predictors ◽  
Patients At Risk ◽  
Magnetic Resonance Imaging Mri ◽  
Periventricular Lesions

Background: The 2010 McDonald criteria allow diagnosing multiple sclerosis (MS) with one magnetic resonance imaging (MRI) scan. Nevertheless, not all patients at risk fulfil criteria at baseline. Other predictive factors (PFs) are: age ≤40 years, positive oligoclonal bands (OBs), and ≥3 periventricular lesions. Objective: The purpose of this study was to evaluate the 2010 McDonald criteria performance and to assess other PFs in patients without dissemination in space (DIS). Methods: Patients with clinically isolated syndrome (CIS) underwent baseline MRI and OB determination with clinical and radiological follow-up. Adjusted hazard ratios (aHRs) for clinically definite MS were estimated for DIS, dissemination in time (DIT), and DIS+DIT. Diagnostic properties at two years were calculated. In cases without DIS, combinations of ≥2 PFs were assessed. Results: A total of 652 patients were recruited; aHRs were 3.8 (2.5–5.8) for DIS, 4.2 (1.9–9.2) for DIT, and 8.6 (5.4–13.8) for DIS+DIT. Sensitivities were 69.6%, 42.3%, and 36.4%, and specificities were 67.3%, 87.9%, and 90.2%, respectively. In patients without DIS, aHRs varied between 2.7–5.5 and specificities ranged from 73.5–89.7% for PF combinations. Conclusion: The high specificity of the 2010 McDonald criteria is confirmed. In patients without DIS, PF combinations could be helpful in identifying those at risk for MS.

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.

scholarly journals Reducing return of disease activity in patients with relapsing multiple sclerosis transitioned from natalizumab to teriflunomide: 12-month interim results of teriflunomide therapy

2019 ◽  
Vol 5 (1) ◽  
pp. 205521731882461
Author(s):  
Stanley L Cohan ◽  
Keith Edwards ◽  
Lindsay Lucas ◽  
Tiffany Gervasi-Follmar ◽  
Judy O’Connor ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Activity ◽  
Brain Magnetic Resonance Imaging ◽  
T2 Lesions ◽  
Disability Status ◽  
The Mean ◽  
Multiple Sclerosis Patients ◽  
Mean Time ◽  
Relapsing Multiple Sclerosis

Background Natalizumab is an effective treatment for relapsing multiple sclerosis. Return of disease activity upon natalizumab discontinuance creates the need for follow-up therapeutic strategies. Objective To assess the efficacy of teriflunomide following natalizumab discontinuance in relapsing multiple sclerosis patients. Methods Clinically stable relapsing multiple sclerosis patients completing 12 or more consecutive months of natalizumab, testing positive for anti-John Cunningham virus antibody, started teriflunomide 14 mg/day, 28 ± 7 days after their final natalizumab infusion. Physical examination, Expanded Disability Status Scale, laboratory assessments, and brain magnetic resonance imaging were performed at screening and multiple follow-up visits. Results Fifty-five patients were enrolled in the study. The proportion of patients relapse-free was 0.94, restricted mean time to first gadolinium-enhancing lesion was 10.9 months and time to 3-month sustained disability worsening was 11.8 months. The mean number of new or enlarging T2 lesions per patient at 12 months was 0.42. Exploratory analyses revealed an annualized relapse rate of 0.08, and a proportion of patients with no evidence of disease activity of 0.68. Forty-seven patients (85.5%) reported adverse events, 95% of which were mild to moderate. Conclusions Teriflunomide therapy initiated without natalizumab washout resulted in a low rate of return of disease activity. Clinicians may consider this a worthwhile strategy when transitioning clinically stable patients off natalizumab to another therapy. ClinicalTrials.gov Identifier: NCT01970410

Increasing incidence of multiple sclerosis in women in Northern Finland

2010 ◽  
Vol 17 (2) ◽  
pp. 133-138 ◽  
Author(s):  
O Krökki ◽  
R Bloigu ◽  
M Reunanen ◽  
AM Remes
Keyword(s):  
Multiple Sclerosis ◽  
Geographical Location ◽  
Epidemiological Studies ◽  
The Arctic ◽  
Time Intervals ◽  
The Past ◽  
Mcdonald Criteria ◽  
Epidemiological Features ◽  
High Prevalence ◽  
The Mean

Background: The geographical distribution of multiple sclerosis (MS) means that prevalence rates increase with latitude north or south of the equator. Temporally, a tendency for increased incidences of MS has been observed over the past two decades. Objectives: Since epidemiological studies of MS in areas close to the Arctic Circle are rare, we evaluated the incidence and prevalence of MS in Northern Ostrobothnia by means of a retrospective cohort study covering the period 1992–2007. Methods: Patients with a definite clinical diagnosis of MS based on the Poser criteria and the early McDonald criteria of 2001 were identified in the region of Northern Ostrobothnia (population 386,972) and the incidence was calculated at 1-year time intervals, both overall and by gender. Results: The overall prevalence was 103/100,000 (95% CI, 93–113), with a female/male ratio of 2.17. The mean overall incidence was 6.3/100,000 (95% CI, 5.2–7.2). The incidence shows a tendency to increase over the 16-year period due to a pronounced rise in the female incidence. Conclusions: Our results show a high prevalence of MS in Northern Ostrobothnia and a disproportional increase in the female MS incidence. These recent epidemiological features may be associated with environmental risk factors such as a vitamin D deficit, low life-long UV radiation and the high-latitude geographical location.

Epidemiological characteristics of pregnancy, delivery, and birth outcome in women with multiple sclerosis in Argentina (EMEMAR study)

2009 ◽  
Vol 15 (5) ◽  
pp. 555-562 ◽  
Author(s):  
N Fernández Liguori ◽  
D Klajn ◽  
L Acion ◽  
F Cáceres ◽  
A Calle ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Latin American ◽  
Birth Defects ◽  
Birth Outcome ◽  
Inclusion Criteria ◽  
Retrospective Design ◽  
The Mean ◽  
Epidemiological Characteristics ◽  
Mean Time ◽  
Pregnancy And Birth

Background The influence of pregnancy on Multiple Sclerosis (MS) has been extensively studied but such influence on Latin American women with MS has not been characterized. Our objective was to describe the course of pregnancy and birth outcome in Argentinean MS patients and the evolution of MS during pregnancy and after delivery. Method We used a retrospective design in eight MS centers in Argentina and administered a survey to women with definite MS (Mc Donald) with pregnancies during or after MS onset. We contacted 355 women of which 81 met inclusion criteria. We recorded 141 pregnancies. Results Involuntary abortion was observed in 16% of pregnancies (95% CI = 10–23). Thirty five women received immunomodulatory therapy (IMT) before 42 pregnancies. Twenty three (55%) out of 42 pregnancies were exposed to IMT. The mean time of IMT discontinuation before conception in 19 (45.2%) pregnancies without exposure, was 104 days (95% CI = 61.0–147.0). There were 103 deliveries: 79% full term. Birth defects were detected in 19% of pregnancies exposed to IMT (95% CI = 4–46) and in 2% of non-exposed (95% CI = 0.3–8.0). The mean relapse rate was: pre-pregnancy year: 0.22 (95% CI = 0.12–0.32); pregnancy: 0.31 in 1st (95% CI = 0.10–0.52), 0.19 (95% CI = 0.03–0.36) in 2nd, and 0.04 in 3rd trimester (95% CI = –0.04–0.12); 1st trimester post delivery: 0.82 (95% CI = 0.42–1.22). Conclusion We observed a higher rate of birth defects among infants exposed to immunomodulators in utero than those not exposed. The reduction in MS relapses during 2nd and 3rd trimester of pregnancy and its increase during postpartum is consistent with previous reports.

Challenges in multiple sclerosis diagnosis: Misunderstanding and misapplication of the McDonald criteria

2020 ◽  
pp. 135245852091049 ◽  
Author(s):  
Andrew J Solomon ◽  
Roman Pettigrew ◽  
Robert T Naismith ◽  
Salim Chahin ◽  
Stephen Krieger ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Optic Neuritis ◽  
Subcortical White Matter ◽  
Web Based ◽  
Mcdonald Criteria ◽  
Correct Definition ◽  
Objective Evidence ◽  
Core Elements ◽  
Magnetic Resonance Imaging Mri ◽  
Definition Of

Objective: To assess comprehension and application of the McDonald criteria. Background: Studies suggest that knowledge gaps for specific core elements of the McDonald criteria may contribute to multiple sclerosis (MS) misdiagnosis. Methods: Neurology residents (NR) and multiple sclerosis specialists (MSS) in North America completed a web-based survey. Results: A total of 160 participants were included: 72 NR and 88 MSS. Syndromes incorrectly identified as typical of MS included: complete transverse myelopathy (35% NR and 15% MSS), intractable vomiting/nausea/hiccoughs (20% NR and 5% MSS), and bilateral optic neuritis/unilateral optic neuritis with poor visual recovery (17% NR and 10% MSS). Periventricular magnetic resonance imaging (MRI) lesions were correctly identified by 39% NR and 52% MSS, and juxtacortical lesions were correctly identified by 28% NR and 53% MSS. The correct definition of “periventricular” was chosen by 38% NR and 61% MSS, and that of “juxtacortical” was chosen by 19% NR and 54% MSS. Regions incorrectly identified for MRI dissemination in space fulfillment included the optic nerve (31% NR and 26% MSS) and the subcortical white matter (11% NR and 18% MSS). The majority of participants assessed previous non-specific neurological symptoms without objective evidence of a central nervous system (CNS) lesion as sufficient for clinical dissemination in time. Conclusion: The McDonald criteria are often misunderstood and misapplied. Concerted educational efforts may prevent MS misdiagnosis.

Application and a proposed modification of the 2010 McDonald criteria for the diagnosis of multiple sclerosis in a Canadian cohort of patients with clinically isolated syndromes

2013 ◽  
Vol 20 (4) ◽  
pp. 458-463 ◽  
Author(s):  
H Kang ◽  
LM Metz ◽  
AL Traboulsee ◽  
M Eliasziw ◽  
GJ Zhao ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Resonance Imaging ◽  
Mri Scan ◽  
Randomized Controlled ◽  
Clinically Isolated Syndromes ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Proposed Modification ◽  
The Impact

Background: The 2005 and 2010 McDonald criteria utilize magnetic resonance imaging (MRI) to provide evidence of disease dissemination in space (DIS) and time (DIT) for the diagnosis of multiple sclerosis (MS) in patients who have clinically isolated syndromes (CIS). Methods: Data from 109 CIS patients not satisfying the 2005 criteria at entry into a randomized controlled minocycline trial were analyzed to determine the proportion who would have been diagnosed with MS at screening based on 2010 criteria. The impact of including symptomatic, as well as asymptomatic, MRI lesions to confirm DIT was also explored. Results: Thirty percent (33/109) of patients, retrospectively, met the 2010 criteria for a diagnosis of MS at baseline. When both symptomatic and asymptomatic lesions were used to confirm DIT, three additional patients met the 2010 criteria. There was a significant 10.1% increase in the proportion of patients who met the 2010 DIS criteria, compared with the 2005 DIS criteria; however, two patients satisfied the 2005 DIS but not 2010 DIS criteria. Conclusion: Using 2010 McDonald criteria, 30% of the CIS patients could be diagnosed with MS using a single MRI scan. Inclusion of symptomatic lesions in the DIT criteria further increases this proportion to 33%.

scholarly journals Spondylodiscitis Caused by Aspergillus Species

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1899
Author(s):  
Christos Koutserimpas ◽  
Ifigeneia Chamakioti ◽  
Symeon Naoum ◽  
Konstantinos Raptis ◽  
Kalliopi Alpantaki ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Multidisciplinary Approach ◽  
Surgical Intervention ◽  
Treatment Options ◽  
Standard Of Care ◽  
Clinical Challenge ◽  
Life Threatening ◽  
The Mean ◽  
Magnetic Resonance Imaging Mri ◽  
Mean Time

Background: Spondylodiscitis caused by Aspergillus spp. is a rare but life-threatening clinical entity. However, a consensus on diagnostic criteria and most effective medical management is still missing. The present study is a review of all published cases of spondylodiscitis caused by Aspergillus spp., in an effort to elucidate epidemiology, patients’ characteristics, andand the medical and surgical treatment options and their effectiveness. Methods: A thorough review of all existing spondylodiscitis cases caused by Aspergillus was performed. Data regarding demographics, responsible fungus, time between symptoms’ onset and firm diagnosis, antifungal treatment (AFT), surgical intervention, andand the infection’s outcome were investigated. Results: A total of 118 Aspergillus spondylodiscitis cases, yielding 119 Aspergillus spp. isolates, were identified in the literature. The patients’ mean age was 40.6 years. Magnetic resonance imaging (MRI) (after its introduction) indicated the diagnosis in most cases (66.7%), while definite diagnosis was established through cultures in the majority of cases (73.7%). Aspergillus fumigatus was isolated in most cases (73; 61.3%), followed by Aspergillus flavus (15; 12.6%) andand Aspergillus nidulans and terreus (7; 5.9%, each). The mean time between symptoms’ onset and diagnosis was 5.7 months. Amphotericin B was the preferred antifungal regiment (84 cases; 71.2%), followed by voriconazole (31; 26.3%), and the mean AFT duration was 6.1 months. The final outcome was successful in 93 cases (78.8%). Furthermore, 77 patients (65.3%) underwent surgery. Conclusions: Spondylodiscitis caused by Aspergillus spp. represents a clinical challenge, requiring a multidisciplinary approach. The present review has shown that prolonged AFT has been the standard of care of the studied cases, while surgical treatment seems to play an important role in selected patents.

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