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.

scholarly journals Elevated levels of miR-181c and miR-633 in the CSF of patients with MS

2019 ◽  
Vol 6 (6) ◽  
pp. e623
Author(s):  
Svenja Kramer ◽  
Arash Haghikia ◽  
Claudia Bang ◽  
Kristian Scherf ◽  
Angelika Pfanne ◽  
...  
Keyword(s):  
Case Control Study ◽  
Validation Cohort ◽  
Area Under The Curve ◽  
Diagnostic Value ◽  
Diagnostic Tools ◽  
Class Iii ◽  
Neurologic Diseases ◽  
Csf Levels ◽  
Control Study

ObjectiveTo validate a previously discovered microRNA (miRNA) panel in the CSF of patients with MS, we now tested the diagnostic value of CSF-derived candidate miRNAs in a case-control study in a larger MS cohort.MethodsThe levels of miR-181c, miR-633, and miR-922 were analyzed in the CSF of 218 patients with MS and 211 patients with other neurologic diseases (OND) by real-time quantitative reverse transcriptase PCR.ResultsCSF levels of both miR-181c (p < 0.001 and miR-633 p < 0.001) were higher in patients with MS patients compared with patients with OND. Both miR-181c (area under the curve [AUC] 0.75, 95% CI 0.70–0.80, p < 0.001) and miR-633 (AUC 0.75, 95% CI 0.68–0.83, p < 0.001) differentiated MS from OND. Combining both miRNAs yielded a sensitivity of 62% and specificity of 89% to differentiate MS from OND. miR-922 was not confirmed to be differentially expressed in this validation cohort.ConclusionsThe results of this so far largest study on CSF-based miRNAs confirm the diagnostic value of miR-181c and miR-633 for MS. The present study may help to extend the diagnostic tools for patients with suspected MS and may add further knowledge to the pathology of the disease.Classification of EvidenceThis study provides Class III evidence that CSF-derived miR-181c and miR-633 distinguish patients with MS from patients with OND.

scholarly journals Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis

Neurology ◽  
2017 ◽  
Vol 88 (13) ◽  
pp. 1235-1242 ◽  
Author(s):  
Estefanía Torres-Vega ◽  
Nuria Mancheño ◽  
Arantxa Cebrián-Silla ◽  
Vicente Herranz-Pérez ◽  
María J. Chumillas ◽  
...  
Keyword(s):  
Cell Surface ◽  
Myasthenia Gravis ◽  
Neuronal Cell ◽  
Clinical Implications ◽  
Class Iii ◽  
Cell Surface Antigens ◽  
Neurologic Diseases ◽  
Deleted In Colorectal Carcinoma ◽  
Receptor Antibodies

Objective:To identify cell-surface antibodies in patients with neuromyotonia and to describe the main clinical implications.Methods:Sera of 3 patients with thymoma-associated neuromyotonia and myasthenia gravis were used to immunoprecipitate and characterize neuronal cell-surface antigens using reported techniques. The clinical significance of antibodies against precipitated proteins was assessed with sera of 98 patients (neuromyotonia 46, myasthenia gravis 52, thymoma 42; 33 of them with overlapping syndromes) and 219 controls (other neurologic diseases, cancer, and healthy volunteers).Results:Immunoprecipitation studies identified 3 targets, including the Netrin-1 receptors DCC (deleted in colorectal carcinoma) and UNC5A (uncoordinated-5A) as well as Caspr2 (contactin-associated protein-like 2). Cell-based assays with these antigens showed that among the indicated patients, 9 had antibodies against Netrin-1 receptors (7 with additional Caspr2 antibodies) and 5 had isolated Caspr2 antibodies. Only one of the 219 controls had isolated Caspr2 antibodies with relapsing myelitis episodes. Among patients with neuromyotonia and/or myasthenia gravis, the presence of Netrin-1 receptor or Caspr2 antibodies predicted thymoma (p < 0.05). Coexisting Caspr2 and Netrin-1 receptor antibodies were associated with concurrent thymoma, myasthenia gravis, and neuromyotonia, often with Morvan syndrome (p = 0.009). Expression of DCC, UNC5A, and Caspr2 proteins was demonstrated in paraffin-embedded thymoma samples (3) and normal thymus.Conclusions:Antibodies against Netrin-1 receptors (DCC and UNC5a) and Caspr2 often coexist and associate with thymoma in patients with neuromyotonia and myasthenia gravis.Classification of evidence:This study provides Class III evidence that antibodies against Netrin-1 receptors can identify patients with thymoma (sensitivity 21.4%, specificity 100%).

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.

Three new species, two new genera, and new family Biphragmosagittidae (Сhaetognatha) from Southwest Pacific Ocean

2011 ◽  
Vol 20 (1) ◽  
pp. 161-173
Author(s):  
A.P. Kassatkina
Keyword(s):  
New Species ◽  
Type Species ◽  
Morphological Characters ◽  
The Body ◽  
New Order ◽  
New Genera ◽  
New Family ◽  
The Family ◽  
Three New Species

Resuming published and own data, a revision of classification of Chaetognatha is presented. The family Sagittidae Claus & Grobben, 1905 is given a rank of subclass, Sagittiones, characterised, in particular, by the presence of two pairs of sac-like gelatinous structures or two pairs of fins. Besides the order Aphragmophora Tokioka, 1965, it contains the new order Biphragmosagittiformes ord. nov., which is a unique group of Chaetognatha with an unusual combination of morphological characters: the transverse muscles present in both the trunk and the tail sections of the body; the seminal vesicles simple, without internal complex compartments; the presence of two pairs of lateral fins. The only family assigned to the new order, Biphragmosagittidae fam. nov., contains two genera. Diagnoses of the two new genera, Biphragmosagitta gen. nov. (type species B. tarasovi sp. nov. and B. angusticephala sp. nov.) and Biphragmofastigata gen. nov. (type species B. fastigata sp. nov.), detailed descriptions and pictures of the three new species are presented.

scholarly journals Extensive Phylogenetic Analysis of Piscine Orthoreovirus Genomic Sequences Shows the Robustness of Subgenotype Classification

Pathogens ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 41
Author(s):  
Marcos Godoy ◽  
Daniel A. Medina ◽  
Rudy Suarez ◽  
Sandro Valenzuela ◽  
Jaime Romero ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Genetic Variation ◽  
Sequence Analysis ◽  
Molecular Phylogeny ◽  
Phylogenetic Trees ◽  
Genomic Segment ◽  
Double Stranded Rna ◽  
The Family ◽  
Original Classification

Piscine orthoreovirus (PRV) belongs to the family Reoviridae and has been described mainly in association with salmonid infections. The genome of PRV consists of about 23,600 bp, with 10 segments of double-stranded RNA, classified as small (S1 to S4), medium (M1, M2 and M3) and large (L1, L2 and L3); these range approximately from 1000 bp (segment S4) to 4000 bp (segment L1). How the genetic variation among PRV strains affects the virulence for salmonids is still poorly understood. The aim of this study was to describe the molecular phylogeny of PRV based on an extensive sequence analysis of the S1 and M2 segments of PRV available in the GenBank database to date (May 2020). The analysis was extended to include new PRV sequences for S1 and M2 segments. In addition, subgenotype classifications were assigned to previously published unclassified sequences. It was concluded that the phylogenetic trees are consistent with the original classification using the PRV genomic segment S1, which differentiates PRV into two major genotypes, I and II, and each of these into two subgenotypes, designated as Ia and Ib, and IIa and IIb, respectively. Moreover, some clusters of country- and host-specific PRV subgenotypes were observed in the subset of sequences used. This work strengthens the subgenotype classification of PRV based on the S1 segment and can be used to enhance research on the virulence of PRV.

scholarly journals Sequence data from isolated lichen-associated melanized fungi enhance delimitation of two new lineages within Chaetothyriomycetidae

2021 ◽  
Vol 20 (7) ◽  
pp. 911-927
Author(s):  
Lucia Muggia ◽  
Yu Quan ◽  
Cécile Gueidan ◽  
Abdullah M. S. Al-Hatmi ◽  
Martin Grube ◽  
...  
Keyword(s):  
Sequence Data ◽  
Single Species ◽  
Sister Group ◽  
Asexual Propagation ◽  
Dna Sequence Data ◽  
Wide Range ◽  
The Family ◽  
Rock Inhabiting Fungi ◽  
Stable Habitat

AbstractLichen thalli provide a long-lived and stable habitat for colonization by a wide range of microorganisms. Increased interest in these lichen-associated microbial communities has revealed an impressive diversity of fungi, including several novel lineages which still await formal taxonomic recognition. Among these, members of the Eurotiomycetes and Dothideomycetes usually occur asymptomatically in the lichen thalli, even if they share ancestry with fungi that may be parasitic on their host. Mycelia of the isolates are characterized by melanized cell walls and the fungi display exclusively asexual propagation. Their taxonomic placement requires, therefore, the use of DNA sequence data. Here, we consider recently published sequence data from lichen-associated fungi and characterize and formally describe two new, individually monophyletic lineages at family, genus, and species levels. The Pleostigmataceae fam. nov. and Melanina gen. nov. both comprise rock-inhabiting fungi that associate with epilithic, crust-forming lichens in subalpine habitats. The phylogenetic placement and the monophyly of Pleostigmataceae lack statistical support, but the family was resolved as sister to the order Verrucariales. This family comprises the species Pleostigma alpinum sp. nov., P. frigidum sp. nov., P. jungermannicola, and P. lichenophilum sp. nov. The placement of the genus Melanina is supported as a lineage within the Chaetothyriales. To date, this genus comprises the single species M. gunde-cimermaniae sp. nov. and forms a sister group to a large lineage including Herpotrichiellaceae, Chaetothyriaceae, Cyphellophoraceae, and Trichomeriaceae. The new phylogenetic analysis of the subclass Chaetothyiomycetidae provides new insight into genus and family level delimitation and classification of this ecologically diverse group of fungi.

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

A comparison of methodological approaches to the subfamilial classification of the Naididae (Oligochaeta)

1987 ◽  
Vol 65 (3) ◽  
pp. 691-707 ◽  
Author(s):  
A. F. L. Nemec ◽  
R. O. Brinkhurst
Keyword(s):  
Data Matrix ◽  
Jaccard Coefficient ◽  
Data Set ◽  
Parsimony Method ◽  
Fit Statistics ◽  
Reconstruction Methods ◽  
Linkage Methods ◽  
The Family ◽  
First Time

A data matrix of 23 generic or subgeneric taxa versus 24 characters and a shorter matrix of 15 characters were analyzed by means of ordination, cluster analyses, parsimony, and compatibility methods (the last two of which are phylogenetic tree reconstruction methods) and the results were compared inter alia and with traditional methods. Various measures of fit for evaluating the parsimony methods were employed. There were few compatible characters in the data set, and much homoplasy, but most analyses separated a group based on Stylaria from the rest of the family, which could then be separated into four groups, recognized here for the first time as tribes (Naidini, Derini, Pristinini, and Chaetogastrini). There was less consistency of results within these groups. Modern methods produced results that do not conflict with traditional groupings. The Jaccard coefficient minimizes the significance of symplesiomorphy and complete linkage avoids chaining effects and corresponds to actual similarities, unlike single or average linkage methods, respectively. Ordination complements cluster analysis. The Wagner parsimony method was superior to the less flexible Camin–Sokal approach and produced better measure of fit statistics. All of the aforementioned methods contain areas susceptible to subjective decisions but, nevertheless, they lead to a complete disclosure of both the methods used and the assumptions made, and facilitate objective hypothesis testing rather than the presentation of conflicting phylogenies based on the different, undisclosed premises of manual approaches.

A revision of the subfamily Haplorchinae Looss, 1899 (Trematoda: Heterophyidae): I. The Haplorchis group

Parasitology ◽  
1964 ◽  
Vol 54 (4) ◽  
pp. 601-676 ◽  
Author(s):  
J. C. Pearson
Keyword(s):  
Life History ◽  
Ventral Sucker ◽  
Genital Pore ◽  
History Data ◽  
Life History Data ◽  
The Family ◽  
Excretory Bladder

Earlier schemes of classification of the family Heterophyidae have been based in large part on such features as shape of body, presence of oral spines, number and position of testes, and distribution of vitellaria (Witenberg, 1929; Ciurea, 1933; Mueller & Van Cleave, 1932). Price (1940a) was the first to make extensive use of features of the ventrogenital complex (ventral sucker, gonotyl, genital pore, terminal male duct) and excretory bladder, and produced the first reasonable classification of both the family Heterophyidae and the superfamily Opisthorchioidea. In despite of the obvious significance of the rationale of Price's approach, later authors (Morozov, 1952, 1955; Yamaguti, 1958) have largely ignored the ventrogenital complex and recently discovered life-history data, and have used much the same sorts of features as earlier authors.

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