scholarly journals Glycine receptor modulating antibody predicting treatable stiff-person spectrum disorders

2018 ◽  
Vol 5 (2) ◽  
pp. e438 ◽  
Author(s):  
Shannon R. Hinson ◽  
A. Sebastian Lopez-Chiriboga ◽  
James H. Bower ◽  
Joseph Y. Matsumoto ◽  
Anhar Hassan ◽  
...  
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Glycine Receptor ◽  
Diagnostic Specificity ◽  
First Line ◽  
Neurologic Disorder ◽  
Neurologic Diseases ◽  
Igg Binding ◽  
Binding Antibody ◽  
Spectrum Disorders

BackgroundGlycine receptor alpha-1 subunit (GlyRα1)-immunoglobulin G (IgG) is diagnostic of stiff-person syndrome (SPS) spectrum but has been reported detectable in other neurologic diseases for which significance is less certain.MethodsTo assess GlyRα1-IgGs as biomarkers of SPS spectrum among patients and controls, specimens were tested using cell-based assays (binding [4°C] and modulating [antigen endocytosing, 37°C]). Medical records of seropositive patients were reviewed.ResultsGlyRα1-IgG (binding antibody) was detected in 21 of 247 patients with suspected SPS spectrum (8.5%) and in 8 of 190 healthy subject sera (4%) but not CSF. Among 21 seropositive patients, 20 had confirmed SPS spectrum clinically, but 1 was later determined to have a functional neurologic disorder. Sera from 9 patients with SPS spectrum , but not 7 controls, nor the functional patient, caused GlyRα1 modulation (100% specificity). SPS spectrum phenotypes included progressive encephalomyelitis with rigidity and myoclonus (PERM) (8), classic SPS (5), stiff limb (5), stiff trunk (1), and isolated exaggerated startle (hyperekplexia, 1). Neuropsychiatric symptoms present in 12 patients (60%) were anxiety (11), depression (6), and delirium (3). Anxiety was particularly severe in 3 patients with PERM. Objective improvements in SPS neurologic symptoms were recorded in 16 of 18 patients who received first-line immunotherapy (89%, 9/10 treated with corticosteroids, 8/10 treated with IVIg, 3/4 treated with plasma exchange, and 1 treated with rituximab). Treatment-sparing maintenance strategies were successful in 4 of 7 patients (rituximab [2/3], azathioprine [1/1], and mycophenolate [1/3]).ConclusionsGlyRα1-modulating antibody improves diagnostic specificity for immunologically treatable SPS spectrum disorders.Classification of evidenceThis study provides Class IV evidence that GlyRα1-modulating antibody accurately identifies patients with treatable SPS spectrum disorders.

scholarly journals Argonaute Autoantibodies as Biomarkers in Autoimmune Neurologic Diseases

2021 ◽  
Vol 8 (5) ◽  
pp. e1032
Author(s):  
Le-Duy Do ◽  
Christian P. Moritz ◽  
Sergio Muñiz-Castrillo ◽  
Anne-Laurie Pinto ◽  
Yannick Tholance ◽  
...  
Keyword(s):  
Protein Microarrays ◽  
Class Iii ◽  
Neurologic Disorder ◽  
Neurologic Diseases ◽  
Argonaute Proteins ◽  
Systemic Autoimmunity ◽  
Clinical Presentations ◽  
The Family ◽  
Novel Biomarkers

ObjectiveTo identify and characterize autoantibodies (Abs) as novel biomarkers for an autoimmune context in patients with central and peripheral neurologic diseases.MethodsTwo distinct approaches (immunoprecipitation/mass spectrometry–based proteomics and protein microarrays) and patients' sera and CSF were used. The specificity of the identified target was confirmed by cell-based assay (CBA) in 856 control samples.ResultsUsing the 2 methods as well as sera and CSF of patients with central and peripheral neurologic involvement, we identified Abs against the family of Argonaute proteins (mainly AGO1 and AGO2), which were already reported in systemic autoimmunity. AGO-Abs were mostly of immunoglobulin G 1 subclass and conformation dependent. Using CBA, AGO-Abs were detected in 21 patients with a high suspicion of autoimmune neurologic diseases (71.4% were women; median age 57 years) and only in 4/856 (0.5%) controls analyzed by CBA (1 diagnosed with small-cell lung cancer and the other 3 with Sjögren syndrome). Among the 21 neurologic patients identified, the main clinical presentations were sensory neuronopathy (8/21, 38.1%) and limbic encephalitis (6/21, 28.6%). Fourteen patients (66.7%) had autoimmune comorbidities and/or co-occurring Abs, whereas AGO-Abs were the only autoimmune biomarker for the remaining 7/21 (33.3%). Thirteen (61.9%) patients were treated with immunotherapy; 8/13 (61.5%) improved, and 3/13 (23.1%) remained stable, suggesting an efficacy of these treatments.ConclusionsAGO-Abs might be potential biomarkers of autoimmunity in patients with central and peripheral nonparaneoplastic neurologic diseases. In 7 patients, AGO-Abs were the only biomarkers; thus, their identification may be useful to suspect the autoimmune character of the neurologic disorder.Classification of EvidenceThis study provides Class III evidence that AGO-Abs are more frequent in patients with autoimmune neurologic diseases than controls.

The Accuracy of ACR TI-RADS Classification of Neck Ultrasound as a First-Line Diagnostic Approach for Thyroid Neoplasms in Pediatric Patients: A Retrospective Study

2018 ◽  
Vol 5 (1) ◽  
pp. 13-23
Author(s):  
Nikolai S. Grachev ◽  
Elena V. Feoktistova ◽  
Igor N. Vorozhtsov ◽  
Natalia V. Babaskina ◽  
Ekaterina Yu. Iaremenko ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Predictive Value ◽  
Thyroid Nodules ◽  
Pediatric Patients ◽  
Thyroid Neoplasms ◽  
Diagnostic Methods ◽  
Diagnostic Approach ◽  
First Line ◽  
Neck Ultrasound

Background.Ultrasound (US)-guided fine-needle aspiration biopsy (FNAB) is the gold standard in diagnosing the pathological nature of undetermined thyroid nodules. However, in some instances limitations and shortcomings arise, making it insufficient for determining a specific diagnosis.Objective.Our aim was to evaluate the effectiveness of ACR TI-RADS classification of neck ultrasound as a first-line diagnostic approach for thyroid neoplasms in pediatric patients.Methods.A retrospective analysis was made of FNA and US protocols in 70 patients who underwent the examination and treatment at Dmitry Rogachev National Research Center between January 2012 and August 2017. In the retrospective series 70% (49/70) of patients undergone FNA and 43% (30/70) of them undergone repeated FNA. All US protocols were interpreted according to ACR TI-RADS system by the two independent experts. The clinical judgment was assessed using the concordance test and the reliability of preoperative diagnostic methods was analized.Results.According to histologic examination protocols, benign nodules reported greater multimorbidity 29% (20/70), compared with thyroid cancer 17% (12/70), complicating FNA procedure. A statistically significant predictor of thyroid cancer with a tumor size ACR TI-RADS showed a significant advantage of ACR TI-RADS due to higher sensitivity (97.6 vs 60%), specificity (78.6 vs 53.8%), positive predictive value (87.2 vs 71.4%), and negative predictive value (95.7 vs 41.2%). Concordance on the interpreted US protocols according to ACR TI-RADS classification between two experts was high, excluding accidental coincidence.Conclusion.The data support the feasibility of US corresponding to the ACR TI-RADS classification as a first-line diagnostic approach for thyroid neoplasm reducing the number of unnecessary biopsies for thyroid nodules.

scholarly journals Analysis of soluble interleukin-2 receptor as CSF biomarker for neurosarcoidosis

2020 ◽  
Vol 7 (4) ◽  
pp. e725
Author(s):  
Carolin Otto ◽  
Oliver Wengert ◽  
Nadine Unterwalder ◽  
Christian Meisel ◽  
Klemens Ruprecht
Keyword(s):  
Disease Activity ◽  
White Cell Count ◽  
Interleukin 2 ◽  
Cns Lymphoma ◽  
Serum Samples ◽  
Neurologic Diseases ◽  
Interleukin 2 Receptor ◽  
Soluble Interleukin 2 Receptor ◽  
Clinical Mri

ObjectiveTo systematically analyze soluble interleukin-2 receptor (sIL-2R) in CSF as a diagnostic and disease activity biomarker in patients with sarcoidosis involving the CNS (neurosarcoidosis).MethodssIL-2R was determined by chemiluminescent immunoassays in CSF/serum samples from patients with neurosarcoidosis (n = 23), MS (n = 19), neurotuberculosis (n = 8), viral (n = 18) and bacterial (n = 9) meningitis, cerebral lymphoma (n = 15), Guillain-Barré syndrome (n = 8), and 115 patients with noninflammatory neurologic diseases (NINDs) as controls. The sIL-2R index was calculated by dividing the CSF/serum sIL-2R quotient (QsIL-2R) through the CSF/serum albumin quotient (QAlb). sIL-2R quotient diagrams were established by plotting QsIL-2R against QAlb. sIL-2R levels were correlated with clinical, MRI, and CSF disease activity markers of neurosarcoidosis.ResultsPatients with neurosarcoidosis had higher CSF sIL-2R, QsIL-2R, and sIL-2R index values than patients with NINDs (p < 0.0001 for all pairwise group comparisons). sIL-2R quotient diagrams demonstrated an intrathecal sIL-2R synthesis in >50% of neurosarcoidosis samples. Similar findings were observed in viral/bacterial meningitis, CNS lymphoma, and, most pronounced, in neurotuberculosis, but not in patients with MS. CSF sIL-2R parameters were associated with clinical disease activity, leptomeningeal gadolinium enhancement, and the CSF white cell count in patients with neurosarcoidosis.ConclusionsCSF sIL-2R parameters are elevated in patients with neurosarcoidosis, but this finding is not specific for neurosarcoidosis. Nevertheless, CSF sIL-2R parameters may help distinguishing neurosarcoidosis from MS and are associated with clinical, radiologic, and CSF disease activity markers of neurosarcoidosis.Classification of evidenceThis study provides Class II evidence that CSF sIL-2R parameters distinguish neurosarcoidosis from NINDs and MS.

scholarly journals Synaesthesia in Autism

2016 ◽  
Vol 14 (3) ◽  
pp. 21-31 ◽  
Author(s):  
O.B. Bogdashina
Keyword(s):  
Autism Spectrum Disorders ◽  
Sensory Modality ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Sensory Modalities ◽  
Spectrum Disorders ◽  
Stimulation Of

Synaesthesia — a phenomenon of perception, when stimulation of one sensory modality triggers a perception in one or more other sensory modalities. Synaesthesia is not uniform and can manifest itself in different ways. As the sensations and their interpretation vary in different periods of time, it makes it hard to study this phenom¬enon. The article presents the classification of different forms of synaesthesia, including sensory and cognitive; and bimodal and multimodal synaesthesia. Some synaesthetes have several forms and variants of synaesthesia, while others – just one form of it. Although synaesthesia is not specific to autism spectrum disorders, it is quite common among autistic individuals. The article deals with the most common forms of synaesthesia in autism, advantages and problems of synesthetic perception in children with autism spectrum disorders, and provides some advice to parents how to recognise synaesthesia in children with autism.

scholarly journals The Clinical Course and Prognostic Problems of Youth Depressions with Attenuated Schizophrenic Symptoms

2021 ◽  
pp. 42-52
Author(s):  
V. G. Kaleda ◽  
M. A. Omelchenko
Keyword(s):  
Depressive Episode ◽  
Functional Outcomes ◽  
Negative Symptoms ◽  
Clinical Course ◽  
Control Group ◽  
Youth Depression ◽  
Early Markers ◽  
Spectrum Disorders

Objective Clinical and follow-up verification of Attenuated Schizophrenic Symptoms (ASS) in the first youth depressive episode as early markers of the schizophrenic process, establishing further variants of the course of the disorder and its outcomes.Materials and methods. 124 young inpatients (averaged age 19,6±2,3 years) with the first depressive episode with ASS were examined. The control group consisted of 27 patients with youth depression without ASS. All patients have been tracked for at least five years. The average follow-up period was 7,1±1,6 years. The HDRS, SOPS, SANS and PSP scales were used to assess the symptomatic and functional outcomes. Statistical analysis was carried out using STATISTICA 12.Results. The typological classification of youth depressions (ASD) with ASS has been developed with the identification of three main types: (1) with attenuated positive symptoms (APS), (2) with attenuated negative symptoms (ANS), and (3) with attenuated symptoms of disorganization. Youth depression with ASS, compared to the control group, is more likely to move into chronic forms, has reliably worse functional and symptomatic outcomes, and is more associated with the diagnosis of schizophrenic spectrum disorders at five years follow-up.Conclusion. Attenuated schizophrenic symptoms in the structure of youth depressions have high affinity to each other, indicating a common pathogenic mechanism of their formation, and also have predicate value as risk factors for schizophrenia.

scholarly journals A-74 COVID-19 and Post-Acute Sequelae of SARS-CoV-2 Infection (PASC): Acute and Longitudinal Analysis of Anosmia and Ageusia with Delayed Sudden-Onset Neuropsychiatric Symptoms

2021 ◽  
Vol 36 (6) ◽  
pp. 1116-1116
Author(s):  
Patricia A Pimental ◽  
Anna Ciampanelli ◽  
Eisha H Vora
Keyword(s):  
Depressive Disorders ◽  
Neuropsychiatric Symptoms ◽  
Neuropsychological Testing ◽  
Sudden Onset ◽  
Diagnostic Specificity ◽  
Total Recovery ◽  
Time Period ◽  
Smell Test ◽  
History Of

Abstract Objective Patients with COVID-19 and PASC may exhibit chemosensory dysfunction associated with acute neuroinflammation from immune system overactivation (Uzunova, Pallanti, & Hollander, 2021). Neuropsychiatric disturbances in patients with no history of anxiety or depression have also been reported. These central nervous system manifestations of COVID-19 may be sequelae of trans-olfactory and infralimbic tract penetration (Speth et al., 2020). Methods Our case involved a 52-year-old, right-handed, American Indian female, who at three months post neuropsychological evaluation, was diagnosed with laboratory confirmed COVID-19 with onset of complete anosmia and ageusia. Two months later, a sudden-onset of panic and depression occurred with no precipitating event. All symptoms were documented daily until return of function. Results Pre-COVID-19 neuropsychological testing revealed findings consistent with ophthalmologic/vestibular migraine and ruled out dementia, and formal anxiety and depressive disorders. Post-COVID-19 neuropsychological analysis and follow-up revealed that anosmia and ageusia had largely resolved after 8-months, and that the delayed sudden-onset panic and depression also resolved within that same time period. Conclusions A paucity of data exists concerning COVID-19 and PASC anosmia and ageusia, and sudden-onset neuropsychiatric symptoms. Our case is unique since neuropsychological testing preceded the COVID-19 infection, which provided a baseline of functioning (e.g., Pocket Smell Test: 3/3 baseline and 0/3 acute COVID-19) and pre-morbid diagnostic specificity. The present case findings align with Cappali and Gatti (2021) whereby 91% of patients reported olfactory recovery, with 53% total recovery after 8-months. No other known reports simultaneously documented detailed recovery of anosmia, ageusia and delayed sudden-onset panic and depression, and COVID-19 antibody laboratory testing.

scholarly journals How I treat hypereosinophilic syndromes

Blood ◽  
2015 ◽  
Vol 126 (9) ◽  
pp. 1069-1077 ◽  
Author(s):  
Amy D. Klion
Keyword(s):  
Kinase Inhibitors ◽  
Clinical Presentation ◽  
Rare Disorders ◽  
First Line ◽  
First Line Therapy ◽  
Line Therapy ◽  
Organ Manifestations ◽  
Neoplastic Disorders ◽  
Peripheral Blood Eosinophilia

Abstract Hypereosinophilic syndromes (HESs) are a group of rare disorders characterized by peripheral blood eosinophilia of 1.5 × 109/L or higher and evidence of end organ manifestations attributable to the eosinophilia and not otherwise explained in the clinical setting. HESs are pleomorphic in clinical presentation and can be idiopathic or associated with a variety of underlying conditions, including allergic, rheumatologic, infectious, and neoplastic disorders. Moreover, the etiology of the eosinophilia in HESs can be primary (myeloid), secondary (lymphocyte-driven), or unknown. Although corticosteroids remain the first-line therapy for most forms of HESs, the availability of an increasing number of novel therapeutic agents, including tyrosine kinase inhibitors and monoclonal antibodies, has necessarily altered the approach to treatment of HESs. This review presents an updated treatment-based approach to the classification of patients with presumed HES and discusses the roles of conventional and novel agents in the management of these patients.

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