scholarly journals Practice Current: When do you suspect autoimmune encephalitis and what is the role of antibody testing?

2018 ◽  
Vol 8 (1) ◽  
pp. 67-73 ◽  
Author(s):  
Aravind Ganesh ◽  
Sarah F. Wesley

Diagnosing autoimmune encephalitis (AE) is complicated by several factors, including issues with availability, sensitivity, and specificity of antibody testing, particularly with variability in assay techniques and new antibodies being rapidly identified; nonspecific findings on MRI, EEG, and lumbar puncture; and competing differential diagnoses. Through case-based discussions with 3 experts from 3 continents, this article discusses the challenges of AE diagnosis, important clinical characteristics of AE, preferences for methods of autoantibody testing and interpretation, and treatment-related questions. In particular, we explore the following question: If a patient's clinical presentation seems consistent with AE but antibody testing is negative, can one still diagnose the patient with AE? Furthermore, what factors does one consider when making this determination, and should treatment proceed independent of antibody testing in suspected cases? The same case-based questions were posed to the rest of our readership in an online survey, the results of which are also presented.

2012 ◽  
Vol 2 ◽  
pp. 11 ◽  
Author(s):  
Kishor V. Hegde ◽  
P. Suneetha ◽  
P. V. Pradeep ◽  
Panil Kumar

Thymic cysts are usually diagnosed accidentally during radiological evaluation of the chest for unrelated conditions. Symptoms appear late when the mass compresses on adjoining tissues. We report an unusual case of asymptomatic mediastinal thymic cyst which was seen in the neck whenever the patient was asked to perform Valsalva maneuver. This case is being reported for the unusual clinical presentation of a rare disease. The role of imaging in the diagnosis and common differential diagnoses are also discussed.


VASA ◽  
2021 ◽  
pp. 1-5
Author(s):  
Guillaume Bergère ◽  
Claire Toquet ◽  
Clément Hoffmann ◽  
Luc Bressollette ◽  
Alizée Raimbeau ◽  
...  

Summary: Background: Thromboangiitis obliterans (TAO) is a distal non atherosclerotic thrombotic vasculitis affecting tobacco smokers. The role of cannabis co-exposure remains controversial. The study aims to assess how cannabis consumption influences clinical presentation and outcome of TAO in tobacco smokers. Patients and methods: TAO patients, according to Papa’s criteria, were included in a retrospective bicentric study between the 1st January 2003 and the 1st march 2020. Clinical characteristics, arterial involvement at TAO diagnosis, vascular event and amputations during follow-up were analyzed according to cannabis consumption. Results: Seventy-three patients with TAO patients were included. Forty-five patients were in Tobacco group (T) and 28 in Tobacco and cannabis group (T&C). Tobacco exposure was less important in T&C group than in T group (19.4±11.3 vs 31.6±16.6 pack-years) (p=0.005) and patients in T&C group were younger at TAO diagnosis than in T group (p=0.008). Patients in T&C group presented more claudication (33.3% vs 8.9%, p=0.01) and less upper limbs resting ischemia (25.9% vs 51.1%, p=0.04) than patients in the T group. No differences were found between groups with regard to arterial distribution. Amputation rate for patients who had at least one major or minor amputation did not differ between T and T&C group (25% vs 14.8%, p=0.38). Conclusions: Cannabis consumption was associated with a younger age of TAO onset. However, it does not affect amputation-free survival, Tobacco exposure is less important in T&C patients; data of this bicentric study suggest that cannabis could be a cofactor of tobacco which accelerates TAO onset.


Author(s):  
Annette van der Helm-van Mil

The diagnosis of rheumatoid arthritis (RA) is based on a combination of symptoms, signs, and investigation results. As such, it is mainly based on pattern recognition. Classification criteria are not developed to make accurate diagnoses in individual patients, but for the primary purpose of defining homogeneous disease groups for scientific studies. The RA classification criteria have changed over time. This chapter discusses the process of diagnosing RA, the range of clinical characteristics that contribute to this process, its relationship with evolving classification criteria for the condition, and important differential diagnoses. Current recommendations encourage early recognition of arthritis and RA. Since clinical presentation may differ with disease stage, this chapter will also review how the RA phenotype changes as prearthritis progresses to early undifferentiated arthritis and established RA.


2020 ◽  
pp. 088307382097223
Author(s):  
Erin Yamamoto ◽  
Darren Farber ◽  
David Rothner ◽  
Manikum Moodley

Pseudotumor cerebri also known as idiopathic intracranial hypertension is a relatively uncommon disorder of unknown pathophysiology. Although pseudotumor cerebri occurs in both children and adults, the pseudotumor cerebri literature is heavily dominated by adult studies. The aim of this study is to retrospectively describe the clinical presentation, imaging, treatment, and outcomes of a large pediatric pseudotumor cerebri population over a 23-year period. We also discuss secondary pseudotumor cerebri (44%) as well as the increasingly recognized patient subgroups without headache (13.3%) and without papilledema (7.3%). Female sex, obesity, and initial symptoms were consistent with the literature; however radiographic findings were surprisingly low in this cohort. Headache outcomes at 1 week, 1 month, and 3 months following initial lumbar puncture/treatment and visual function outcomes are reported.


Author(s):  
A Mirian ◽  
S McFadden ◽  
P Edmond ◽  
V Bhayana ◽  
L Yang ◽  
...  

Background: We reviewed our autoimmune encephalitis neural antibody testing using brain tissue indirect immunofluorescence (TIIF) and cell-based assays (CBAs) after one year. Methods: Samples were tested from March 2019–March 2020 by TIIF and CBA for anti-NMDAR, LGI1, CASPR2, AMPAR, GABA(B)R, DPPX, IgLON5 and GAD65. Weakly positive or positive CBA, with or without corresponding TIIF positivity, was reported positive. Clinical questionnaires were submitted for clinical-serological correlation. Patients with a compatible clinical phenotype and no more likely alternative diagnosis were classified as true-positives, while all others were flagged as possible false-positives. Results: Twenty of 373 patients (5.4%) had a positive neural antibody. All anti-LGI1 (N=4), GAD65 (N=4), and GABA(B)R (N=1) were classified as true-positives. In contrast, only 3/6 anti-CASPR2 and 3/5 anti-NMDAR were classified as true-positives. Among true-positives, 2/4 anti-LGI and 3/3 anti-CASPR2 were positive by CBA only. All possible false-positive results exhibited only weak serum staining by CBA, with negative serum TIIF and negative CSF CBA/TIIF (if available). Conclusions: Clinical sensitivity of CBA seems higher than TIIF for neural antibodies studied herein, but may come at some expense to clinical specificity. Among patients with weak serum staining by CBA, correlation with serum TIIF, CSF CBA/TIIF, and clinical presentation is recommended.


2005 ◽  
Vol 114 (11) ◽  
pp. 827-833 ◽  
Author(s):  
Eileen H. Dauer ◽  
Deborah K. Freese ◽  
Mounif El-Youssef ◽  
Dana M. Thompson

Objectives: The role of eosinophilic esophagitis (EE) in aerodigestive tract disorders in children is underestimated and overlooked, primarily because of a lack of understanding of this disorder by otolaryngologists. We sought to better characterize the clinical presentation of EE in order to increase awareness among otolaryngologists. Methods: We retrospectively reviewed 71 children with biopsy-proven EE to determine the most common symptoms and laboratory findings that should increase the clinical suspicion of EE. Results: Dysphagia, food impaction, and emesis were the most common symptoms in children with EE. Asthma was the most common airway diagnosis. Rhinosinusitis was the most common otolaryngological diagnosis. Food allergy was present in 60% of the children tested. Eighty-three percent of the children with elevated immunoglobulin E levels had thick linear streaking or patchy white exudate of the esophagus seen on esophagoscopy. Other major medical comorbidities existed in more than half of the children with EE, of which psychiatric disorders and other disorders of the aerodigestive tract were the most common. Conclusions: Eosinophilic esophagitis may contribute to treatment failure in patients with common and complicated aerodigestive tract disorders. To encourage clinicians to avoid overlooking the diagnosis, we present an evaluative algorithm to increase the suspicion of this entity.


Crisis ◽  
2020 ◽  
Vol 41 (2) ◽  
pp. 82-88 ◽  
Author(s):  
Bob Lew ◽  
Ksenia Chistopolskaya ◽  
Yanzheng Liu ◽  
Mansor Abu Talib ◽  
Olga Mitina ◽  
...  

Abstract. Background: According to the strain theory of suicide, strains, resulting from conflicting and competing pressures in an individual's life, are hypothesized to precede suicide. But social support is an important factor that can mitigate strains and lessen their input in suicidal behavior. Aims: This study was designed to assess the moderating role of social support in the relation between strain and suicidality. Methods: A sample of 1,051 employees were recruited in Beijing, the capital of China, through an online survey. Moderation analysis was performed using SPSS PROCESS Macro. Social support was measured with the Multidimensional Scale of Perceived Social Support, and strains were assessed with the Psychological Strains Scale. Results: Psychological strains are a good predictor of suicidality, and social support, a basic need for each human being, moderates and decreases the effects of psychological strains on suicidality. Limitations: The cross-sectional survey limited the extent to which conclusions about causal relationships can be drawn. Furthermore, the results may not be generalized to the whole of China because of its diversity. Conclusion: Social support has a tendency to mitigate the effects of psychological strains on suicidality.


Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.


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