Isolated Cervical Dystonia: Diagnosis and Classification

Clinical diagnostic accuracy of Parkinson's disease (PD) remains suboptimal. Changes in disease concept may have improved clinical diagnostic accuracy in the past decade. However, current clinical diagnostic criteria have not been validated against neuropathological confirmation. This study aims to provide up-to-date clinical diagnostic accuracy data and validate current clinical diagnostic criteria for PD against neuropathology. A retrospective review of medical records of consecutive patients with parkinsonism from the Queen Square Brain Bank was performed between 2009 and 2019. Clinical diagnosis was documented at early (within 5 years of motor symptom onset) and final stages and categorized by movement disorder experts or regular clinicians. Movement Disorder Society Parkinson's disease (MDS-PD) diagnostic criteria were retrospectively applied. Diagnostic accuracy parameters (sensitivity, specificity, positive/negative predictive value, and accuracy) were calculated using neuropathological diagnosis as the gold standard. A total of 267 patients (141 PD and 126 non-PD parkinsonism) were included. Clinical diagnostic accuracy was 97.2% for experts, 92.5% for the MDS clinically probable PD criteria, and 90.3% for clinicians. Similar figures were obtained when applied at an early stage (91.5%, 89.5%, and 84.2% diagnostic accuracy, respectively). MDS clinically established early PD criteria demonstrated very high specificity (98.4%) at early stages. Our results showed an important improvement in PD clinical diagnostic accuracy in clinical practice over the past decade, more marked at early stages of the disease. MDS-PD diagnostic criteria is a valid tool in clinical practice and research for the identification of PD patients showing excellent sensitivity and specificity, although movement disorder experts' diagnosis remains the gold standard PD diagnosis during life. © 2023 International Parkinson and Movement Disorder Society.

(1) Background: Chronic traumatic encephalopathy (CTE) is a complex pathological condition characterized by neurodegeneration, as a result of repeated head traumas. Currently, the diagnosis of CTE can only be assumed postmortem. Thus, the clinical manifestations associated with CTE are referred to as traumatic encephalopathy syndrome (TES), for which diagnostic multiple sets of criteria can be used. (2) Objectives: In this study, we aimed to present and discuss the limitations of the clinical and neuropathological diagnostic criteria for TES/CTE and to suggest a diagnostic algorithm enabling a more accurate diagnostic procedure. (3) Results: The most common diagnostic criteria for TES/CTE discriminate between possible, probable, and improbable. However, several key variations between the available diagnostic criteria suggest that the diagnosis of CTE can still only be given with postmortem neurophysiological examination. Thus, a TES/CTE diagnosis during life imposes a different level of certainty. Here, we are proposing a comprehensive algorithm of diagnosis criteria for TES/CTE based on the similarities and differences between the previous criteria. (4) Conclusions: The diagnosis of TES/CTE requires a multidisciplinary approach; thorough investigation for other neurodegenerative disorders, systemic illnesses, and/or psychiatric conditions that can account for the symptoms; and also complex investigations of patient history, psychiatric assessment, and blood and cerebrospinal fluid biomarker evaluation.

The occurrence of cervicogenic headache: A mapping review.

Procedural validity of an abbreviated version of the SADS/RDC diagnostic process

Comprehensive decade-long analysis of point-of-care resources reveals insights into how clinical research makes its way into practice across different medical specialties and through time to enable us to identify potential translational bottlenecks in the pathway from research to practice.

Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an immune-mediated inflammatory central nervous system (CNS) disease that has been gradually recognized in recent years and is currently considered as a distinct disease entity distinguished from multiple sclerosis and neuromyelitis optica spectrum disorder. Lately, the new diagnostic criteria for MOGAD proposed by the International MOGAD Panel were published.1 The new criteria cover six core clinical phenotypes (optic neuritis, myelitis, acute disseminated encephalomyelitis, cerebral monofocal or polyfocal deficits, brainstem or cerebellar deficits, and cerebral cortical encephalitis often with seizures), emphasize the positive serum MOG-immunoglobulin G (IgG) test (determined using cell-based assay) and exclusion of alternative causes, and include supporting clinical/neuroimaging features to offset possible deficiencies in antibody detection, aiming to provide precise diagnosis of MOGAD and avoid overdiagnosis. MOGAD, with diverse clinico-radiological manifestations, is deemed to be the “great mimic”. While the new diagnostic criteria may be relatively strict in clinical practice, we are concerned that some patients suffering from MOGAD may be omitted according to the current standards. For instance, some patients, who clearly tested positive for serum MOG-IgG, presented with fever, headache, and leptomeningeal enhancement on brain magnetic resonance imaging (MRI). In this clinical setting, MOG antibody-associated aseptic meningitis is the most reasonable diagnosis.2, 3 However, these patients are unlikely to be diagnosed with MOGAD according to the new criteria, given that meningitis does not fit into any of the six defined phenotype classifications. In another scenario, a few patients with seizures (a relatively common presentation in MOGAD4) may have normal brain MRI (especially at the disease onset),5 and may not sufficiently fulfil the new criteria, which can affect the early diagnosis of MOGAD, thus delaying immunotherapy. In addition, short segment myelitis (SSM, < 3 contiguous vertebral segments in length) is not uncommon in MOGAD. Ciron et al. evaluated 73 patients with MOGAD and found 28 (38.4%) had short lesions and 45 (61.6%) had long lesions at the first episode of myelitis.6 Moreover, the occurrence of conus medullaris involvement varied in different populations, which seems to be more uncommon in patients presenting in China (2/59 [3.4%]7), than those in Europe (22/73 [30.1%]6) and North America (21/51 [41.2%]8). Similarly, in our center with recent 5-year data, conus medullaris injury was observed in 2/17 [11.8%] cases with myelitis as the onset manifestation. SSM, with eccentric lesions and without conus medullaris involvement, can occur with low positive serum MOG-IgG. These patients would also fail to meet with the current criteria, but their clinical findings may still be relevant to MOG-IgG. Furthermore, MOG-IgG associated myelitis with negative initial spinal cord MRI occurred in 7/73 patients with MOGAD.9 For the patients with MRI-negative myelitis, if detected with low positive serum MOG-IgG, also challenge the diagnosis of MOGAD according to the new criteria, which may lead to the therapeutic dilemma. Moving forward, detailed studies of MOGAD are likely to identify additional clinico-radiological phenotypes, and the frequency of existing phenotypes will also change, and the diagnostic criteria need to be revised and updated with the times. Although there is still room for improvement, the publication of the 2023 criteria is a key step towards unifying and standardizing the diagnosis of MOGAD, pushing its research into a new era. We expect that the next version of MOGAD criteria will include the uncommon clinical phenotypes, which would allow clinicians to be more vigilant in identifying patients with MOGAD that are presenting with atypical manifestations. Furthermore, we suggest it would be beneficial to define levels of diagnostic certainty (such as possible/probable/definite MOGAD), similar to the diagnostic criteria for autoimmune encephalitis and paraneoplastic neurological syndromes. We believe that these approaches may be more advantageous in clinical diagnosis and management strategies, compensating for lower sensitivity from the current strict diagnostic criteria in the pursuit of higher specificity, so as to decrease underdiagnosis. Given that MOGAD is a treatable disease, but therapeutic regimens are still different from those for other inflammatory CNS diseases, early identification can facilitate timely and optimal treatment, thus improving the prognosis. Not applicable. The authors declare no conflict of interest. Not applicable. Data sharing is not applicable to this article as no new data were created or analyzed in this study.

New Diagnostic Criteria for Mild Traumatic Brain Injury: Medical-Legal Considerations.

Evidence-based regulation--a personal view.

Studies of treatment efficacy provided by process and outcome research with battered women is much less well developed than research on the treatment of batterers. Although there are more than 16 commonly used models, there is little clinical research that addresses their efficacy. This article gives an overview of the theoretical richness that has evolved over the past 20 years and provides a review of process and outcome research on treatment for battered women. The consequent awareness suggests the need for a more integrated model for clinical practice and research. The themes of this article are threefold: (a) more clinical practice research using a multimethod approach, (b) more explicit focus on women of color and immigrant women, and (c) more theoretical and philosophical integration of treatment approaches. The purpose is to focus attention on the need for an integrated approach to practice and research that will inform and guide practitioners.

Background Appreciating the need to better translate biomedical research into improved clinical care and health, the NIH Roadmap was initiated in 2003 to focus on this by strengthening NIH’s central role in clinical research and clinical research training. As part of the needed re-engineering, in 2006 NIH began the CTSA program. At this writing (Summer 2009), there are 39 CTSAs at leading universities across the United States, each having a clinical research graduate program and extensive resources for promoting clinical and translational research. Each of these, and the CTSA Consortium as a whole, are committed to transforming clinical and translational research to maximize impact on health. The CTSAs bring to this challenge an array of capacities, extensive research infrastructure, formal training and career development programs, community engagement of the public and of clinical practice communities, and informatics related to research and clinical practice. Various CTSAs have different areas of emphasis, including along the spectrum of translational research from bench to patient bedside (the first translational step, “T1”), from the bedside to general use in clinical practice (“T2”), and from clinical practice to public benefit and policy (“T3”). This broad array of activities has allowed the national consortium to be responsive to needs all along this path of translation of biomedical research into practice and public benefit. Although the activities of CER can be seen as primarily involving T2 and T3 research, they also can be seen as focusing on the optimal translation of T1 research into effective treatment, and thus the very epitome of work in which CTSAs should be deeply involved. This appreciation was reinforced by CER’s selection as a key Strategic Goal focus of the CTSA Consortium. In this context, the CER Strategic Goal of the CTSA Consortium is to promote the translation of the results of clinical and translational research into practice and public policy. In service of this, in two sections below, we review the span of CER resources across the CTSA Consortium and propose potential roles for CTSAs in supporting CER. As a point of reference for this White Paper, below are two important definitions of CER from reports released at the end of June 2009, from the IOM and from the FCC-CER: Definition from the IOM Report on Priorities for CER The generation and synthesis of evidence that compares the benefits and harms of alternative methods to prevent, diagnose, treat, and monitor a clinical condition or to improve the delivery of care. The purpose of CER is to assist patients, clinicians, purchasers, and policy makers, and the public to make informed decisions that will improve healthcare at both the individual and population levels.

To compare the available diagnostic criteria for progressive multifocal leukoencephalopathy (PML) diagnosis in a real-world cohort of patients with natalizumab-associated PML and to explore opportunities for improvement of such criteria in the context of pharmacovigilance of immunosuppressive therapies. We applied the "Mentzers PML case definition" to a dataset of 28 patients with natalizumab-associated PML (many of whom were identified through MRI screening in the context of pharmacovigilance), who were previously rated according to the American Academy of Neurology (AAN) PML diagnostic criteria, and compared the response to both sets of criteria. The "Mentzers case definition" resulted in a level of certainty 1-3 in patients with a positive JC virus PCR, termed 'definite' and 'probable' PML according to the AAN diagnostic criteria. Patients that tested negative for JC virus in CSF (29%) were classified level 4 by the "Mentzers case definition", neglecting the longitudinal clinical and radiological signs of PML available, while the AAN diagnostic criteria separated these patients in 'possible' and 'not PML'. Both the AAN PML diagnostic criteria and the "Mentzers case definition" require the positive detection of JC virus DNA in CSF to define patients at a higher degree of suspicion of PML. However, as sensitivity of JC virus PCR in CSF is limited and often returns negative in particular in early cases of PML with a mere MRI-based PML suspicion, both criteria have obvious limitations when frequent MRI is used for pharmacovigilance purposes. Thus, revision of PML diagnostic criteria is needed, including the incorporation of lesion evolution, and longitudinal CSF studies that also assess for the presences of intrathecally produced anti-JC virus antibodies.

The International Parkinson and Movement Disorder Society offered standard diagnostic criteria for Parkinson's disease (PD) in 2015. These diagnostic criteria provided systematization of the diagnostic process and detailed explanations of parkinsonism, absolute exclusion criteria, red flags, and supportive criteria. The presence of parkinsonism was a core feature of the criteria. Clear instructions for defining the motor features were described. With regard to the novel aspects, non-motor manifestations (hyposmia, autonomic dysfunction, psychiatric dysfunction, and sleep dysfunction) and ancillary diagnostic tests (olfactory test, cardiac MIBG scintigraphy, and presynaptic dopaminergic imaging) were incorporated. Absolute exclusion criteria comprised 9 features that have the potential to exclude PD with greater than 97% sensitivity. The presence of dementia during the early stage of the illness was not classified as an exclusion criterion. The 10 red flags that indicate another cause of parkinsonism but can also be observed in pathologically proven PD were listed. Red flags were counterbalanced by supportive criteria to allow diagnosis of PD. These 4 supportive criteria were highly specific for a diagnosis of PD. With regard to the level of certainty, clinically established PD and clinically probable PD were described. In this review, we summarize the main points of the MDS-PD criteria and discuss the utility and limitations.

The Challenges of the Next 5 Years

Diagnostic criteria in fulminant type 1 diabetes, a novel subtype of type 1 diabetes, remain unclear. We analyzed basal and longitudinal changes of serum C-peptide levels during a 75-g oral glucose tolerance test (OGTT) in 125 consecutively recruited patients with type 1 diabetes including fulminant type 1 diabetes (n = 25) and acute-onset type 1 diabetes (n = 100). Discriminating criteria of fulminant type 1 diabetes were examined using receiver-operating characteristic curve analysis and multiple logistic regression analysis. The integrated values of serum C-peptide response during OGTT (SigmaC-peptide) in fulminant type 1 diabetes at onset, 1 year, and 2 years after onset were markedly lower than those in acute-onset type 1 diabetes. None of the patients with fulminant type 1 diabetes had improvement of C-peptide response to OGTT. Fasting C-peptide values at onset in fulminant type 1 diabetes were significantly lower than those in acute-onset type 1 diabetes. We established diagnostic criteria of serum C-peptide and HbA(1c) levels at onset that discriminate fulminant type 1 diabetes from acute-onset type 1 diabetes with high sensitivity and specificity: a criterion in which the levels of both the fasting C-peptide is <or=0.033 nmol/l and HbA(1c) is <or=8.0% or a criterion in which the levels of both the SigmaC-peptide is <or=0.540 nmol/l and HbA(1c) is <or=8.0%. Fulminant type 1 diabetes has extremely low beta-cell function at onset that rarely recovers after onset. Sensitive and specific diagnostic criteria were established for detection of fulminant type 1 diabetes based on serum C-peptide and HbA(1c) levels at onset.

The WHO World Mental Health Surveys: Global Perspectives on the Epidemiology of Mental Disorders