RESUMO
BACKGROUND: The application of reduced metagenomic sequencing approaches holds promise as a middle ground between targeted amplicon sequencing and whole metagenome sequencing approaches but has not been widely adopted as a technique. A major barrier to adoption is the lack of read simulation software built to handle characteristic features of these novel approaches. Reduced metagenomic sequencing (RMS) produces unique patterns of fragmentation per genome that are sensitive to restriction enzyme choice, and the non-uniform size selection of these fragments may introduce novel challenges to taxonomic assignment as well as relative abundance estimates. RESULTS: Through the development and application of simulation software, readsynth, we compare simulated metagenomic sequencing libraries with existing RMS data to assess the influence of multiple library preparation and sequencing steps on downstream analytical results. Based on read depth per position, readsynth achieved 0.79 Pearson's correlation and 0.94 Spearman's correlation to these benchmarks. Application of a novel estimation approach, fixed length taxonomic ratios, improved quantification accuracy of simulated human gut microbial communities when compared to estimates of mean or median coverage. CONCLUSIONS: We investigate the possible strengths and weaknesses of applying the RMS technique to profiling microbial communities via simulations with readsynth. The choice of restriction enzymes and size selection steps in library prep are non-trivial decisions that bias downstream profiling and quantification. The simulations investigated in this study illustrate the possible limits of preparing metagenomic libraries with a reduced representation sequencing approach, but also allow for the development of strategies for producing and handling the sequence data produced by this promising application.
Assuntos
Metagenoma , Metagenômica , Software , Metagenoma/genética , Metagenômica/métodos , Humanos , Análise de Sequência de DNA/métodos , Microbioma Gastrointestinal/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodosRESUMO
Type VIIb secretion systems (T7SSb) in Gram-positive bacteria facilitate physiology, interbacterial competition, and/or virulence via EssC ATPase-driven secretion of small É-helical proteins and toxins. Recently, we characterized T7SSb in group B Streptococcus (GBS), a leading cause of infection in newborns and immunocompromised adults. GBS T7SS comprises four subtypes based on variation in the C-terminus of EssC and the repertoire of downstream effectors; however, the intraspecies diversity of GBS T7SS and impact on GBS-host interactions remains unknown. Bioinformatic analysis indicates that GBS T7SS loci encode subtype-specific putative effectors, which have low interspecies and inter-subtype homology but contain similar domains/motifs and therefore may serve similar functions. We further identify orphaned GBS WXG100 proteins. Functionally, we show that GBS T7SS subtype I and III strains secrete EsxA in vitro and that in subtype I strain CJB111, esxA1 appears to be differentially transcribed from the T7SS operon. Furthermore, we observe subtype-specific effects of GBS T7SS on host colonization, as CJB111 subtype I but not CNCTC 10/84 subtype III T7SS promotes GBS vaginal colonization. Finally, we observe that T7SS subtypes I and II are the predominant subtypes in clinical GBS isolates. This study highlights the potential impact of T7SS heterogeneity on host-GBS interactions.
Assuntos
Infecções Estreptocócicas , Sistemas de Secreção Tipo VII , Recém-Nascido , Feminino , Humanos , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Sistemas de Secreção Tipo VII/genética , Virulência , Óperon/genética , Genitália Feminina/metabolismo , Infecções Estreptocócicas/microbiologia , Streptococcus agalactiae/genética , Streptococcus agalactiae/metabolismo , Vagina/metabolismo , Vagina/microbiologiaRESUMO
Group B streptococcus (GBS) infection is a significant public health concern associated with adverse pregnancy complications and increased neonatal mortality and morbidity. However, the mechanisms underlying the impact of GBS on the fetal membrane, the first line of defense against pathogens, are not fully understood. Here, we propose that GBS induces senescence and inflammatory factors (IL-6 and IL-8) in the fetal membrane through interleukin-1 (IL-1). Utilizing the existing transcriptomic data on GBS-exposed human fetal membrane, we showed that GBS affects senescence-related pathways and genes. Next, we treated primary amnion epithelial cells with conditioned medium from the choriodecidual layer of human fetal membrane exposed to GBS (GBS collected choriodecidual [CD] conditioned medium) in the absence or presence of an IL-1 receptor antagonist (IL-1Ra). GBS CD conditioned medium significantly increased ß-galactosidase activity, IL-6 and IL-8 release from the amnion epithelial cells. Cotreatment with IL1Ra reduced GBS-induced ß-galactosidase activity and IL-6 and IL-8 secretion. Direct treatment with IL-1α or IL-1ß confirmed the role of IL-1 signaling in the regulation of senescence in the fetal membrane. We further showed that GBS CD conditioned medium and IL-1 decreased cell proliferation in amnion epithelial cells. In summary, for the first time, we demonstrate GBS-induced senescence in the fetal membrane and present evidence of IL-1 pathway signaling between the choriodecidua and amnion layer of fetal membrane in a paracrine manner. Further studies will be warranted to understand the pathogenesis of adverse pregnancy outcomes associated with GBS infection and develop therapeutic interventions to mitigate these complications.
Assuntos
Âmnio , Interleucina-8 , Feminino , Humanos , Recém-Nascido , Gravidez , Âmnio/metabolismo , beta-Galactosidase , Senescência Celular , Meios de Cultivo Condicionados/farmacologia , Células Epiteliais/metabolismo , Interleucina-6/metabolismo , Interleucina-8/metabolismo , Streptococcus agalactiae/metabolismo , Interleucina-1RESUMO
Group B Streptococcus (GBS) is a pathobiont that can ascend to the placenta and cause adverse pregnancy outcomes, in part through production of the toxin ß-hemolysin/cytolysin (ß-h/c). Innate immune cells have been implicated in the response to GBS infection, but the impact of ß-h/c on their response is poorly defined. We show that GBS modulates innate immune cell states by subversion of host inflammation through ß-h/c, allowing worse outcomes. We used an ascending mouse model of GBS infection to measure placental cell state changes over time following infection with a ß-h/c-deficient and isogenic wild type GBS strain. Transcriptomic analysis suggests that ß-h/c-producing GBS elicit a worse phenotype through suppression of host inflammatory signaling in placental macrophages and neutrophils, and comparison of human placental macrophages infected with the same strains recapitulates these results. Our findings have implications for identification of new targets in GBS disease to support host defense against pathogenic challenge.
Assuntos
Placenta , Infecções Estreptocócicas , Camundongos , Animais , Feminino , Gravidez , Humanos , Placenta/metabolismo , Streptococcus agalactiae/genética , Streptococcus agalactiae/metabolismo , Inflamação , Macrófagos , Infecções Estreptocócicas/metabolismoRESUMO
Shifts in pollinator occurrence and their pollen transport effectiveness drive the evolution of mating systems in flowering plants. Understanding the genomic basis of these changes is essential for predicting the persistence of a species under environmental changes. We investigated the genomic changes in Brassica rapa over nine generations of pollination by hoverflies associated with rapid morphological evolution toward the selfing syndrome. We combined a genotyping-by-sequencing (GBS) approach with a genome-wide association study (GWAS) to identify candidate genes, and assessed their functional role in the observed morphological changes by studying mutations of orthologous genes in the model plant Arabidopsis thaliana. We found 31 candidate genes involved in a wide range of functions from DNA/RNA binding to transport. Our functional assessment of orthologous genes in A. thaliana revealed that two of the identified genes in B. rapa are involved in regulating the size of floral organs. We found a protein kinase superfamily protein involved in petal width, an important trait in plant attractiveness to pollinators. Moreover, we found a histone lysine methyltransferase (HKMT) associated with stamen length. Altogether, our study shows that hoverfly pollination leads to rapid evolution toward the selfing syndrome mediated by polygenic changes.
Assuntos
Evolução Biológica , Brassica rapa , Genes de Plantas , Polinização , Polinização/genética , Brassica rapa/genética , Brassica rapa/fisiologia , Animais , Estudo de Associação Genômica Ampla , Autofertilização/genética , Flores/genética , Flores/fisiologia , Flores/anatomia & histologia , Reprodução/genética , Arabidopsis/genética , Arabidopsis/fisiologia , Mutação/genética , Dípteros/genética , Dípteros/fisiologia , Fenótipo , Pólen/genética , Pólen/fisiologiaRESUMO
Needle-leaved junipers (Juniperus sect. Juniperus, Cupressaceae) are coniferous trees and shrubs with red or blue fleshy cones. They are distributed across Asia, Macaronesia and the Mediterranean Basin, with one species (J. communis) having a circumboreal distribution. Here we aim to resolve the phylogeny of this clade to infer its intricate evolutionary history. To do so, we built a comprehensive, time-calibrated phylogeny using genotyping-by-sequencing (GBS) and combine it with species occurrence using phylogeographic tools. Our results provide solid phylogenetic resolution to propose a new taxonomic classification and a biogeographical history of the section. Specifically, we confirm the monophyly of two groups within J. sect. Juniperus: the Asian (blue-cone) species including the circumboreal J. communis, and the Mediterranean-Macaronesian (red-cone) species. In addition, we provide strong phylogenetic evidence for three distinct species (J. badia, J. conferta, J. lutchuensis) previously considered subspecies or varieties, as well as for the differentiation between the eastern and western Mediterranean lineages of J. macrocarpa. Our findings suggest that the Mediterranean basin was the primary center of diversification for Juniperus sect. Juniperus, followed by an East Asian-Tethyan disjunction resulting from uplifts of the Qinghai-Tibetan Plateau and climatic shifts. The colonization history of Macaronesia by red-cone junipers from the western Mediterranean appears to have taken place independently in two different geological periods: the Miocene (Azores) and the Pliocene (Madeira-Canary Islands). Overall, genomic data and phylogenetic analysis are key to consider a new taxonomic proposal and reconstruct the biogeographical history of the iconic needle-leaved junipers across the Paleartic.
Assuntos
Juniperus , Filogenia , Juniperus/genética , Juniperus/classificação , Filogeografia , Evolução Biológica , Análise de Sequência de DNARESUMO
INTRODUCTION/AIMS: Accurately diagnosing Guillain-Barré syndrome (GBS) in its early stages and distinguishing it from mimics poses challenges. This study aimed to evaluate the utility of an existing electrodiagnostic criterion in very early GBS (VEGBS) for discerning mimics. Additionally, we explored specific electrophysiological abnormalities in VEGBS to design a new diagnostic criterion for more accurate VEGBS diagnosis. METHODS: We retrospectively identified all patients with flaccid quadriparesis initially suspected of GBS who underwent nerve conduction studies (NCS) ≤4 days from symptom onset. We then retrieved their NCS data and applied an existing electrodiagnostic criterion for sensitivity and specificity analyses based on the final discharge diagnosis. Furthermore, we designed a new criterion based on the observed electrophysiological abnormalities that have maximum specificity and at least 50% sensitivity. RESULTS: Among 70 patients suspected of VEGBS, 44 (63%) received a final diagnosis of GBS, while in 26 (37%), the GBS diagnosis was later refuted. Umapathi's definite criterion exhibited a sensitivity of 61.36% and a specificity of 92.31%. The probable and possible groups showed very high sensitivity (90.91% and 100%, respectively); however, specificity was low (57.69% and 30.77%, respectively) in the very early stage. Our proposed criterion demonstrated a sensitivity of 88.64% (CI: 75.44%-96.21%) and a specificity of 96.15% (CI: 80.36%-99.90%). DISCUSSION: The criterion based on presumed electrophysiological correlates of specific early GBS pathophysiology proved more effective than the existing electrodiagnostic criterion in differentiating VEGBS from mimics.
RESUMO
PREMISE: The domestication of wild plant species can begin with gathering and transport of propagules by Indigenous peoples. The effect on genomic composition, especially in clonal, self-incompatible perennials would be instantaneous and drastic with respect to new, anthropogenic populations subsequently established. Reductions in genetic diversity and mating capability would be symptomatic and the presence of unique alleles and genetic sequences would reveal the origins and ancestry of populations associated with archaeological sites. The current distribution of the Four Corners potato, Solanum jamesii Torr. in the Southwestern USA, may thus reflect the early stages of a domestication process that began with tuber transport. METHODS: Herein genetic sequencing (GBS) data are used to further examine the hypothesis of domestication in this culturally significant species by sampling 25 archaeological and non-archaeological populations. RESULTS: Archaeological populations from Utah, Colorado and northern Arizona have lower levels of polymorphic loci, unique alleles, and heterozygosity than non-archaeological populations from the Mogollon region of central Arizona and New Mexico. Principle components analysis, Fst values, and structure analysis revealed that genetic relationships among archaeological populations did not correspond to geographic proximity. Populations in Escalante, Utah were related to those on the Mogollon Rim (400 km south) and had multiple origins and significant disjunctions with those populations in Bears Ears, Chaco Canyon, and Mesa Verde sites. CONCLUSIONS: Movement of tubers from the Mogollon region may have occurred many times and in multiple directions during the past, resulting in the complex genetic patterns seen in populations from across the Four Corners region.
Assuntos
Arqueologia , Efeito Fundador , Solanum , Solanum/genética , Humanos , Domesticação , Sudoeste dos Estados Unidos , Variação Genética , Análise de Sequência de DNA , Arizona , New MexicoRESUMO
PURPOSE: Group B streptococcus (GBS) colonizes the gastrointestinal and vaginal mucosa in healthy adults, but has also become an increasing cause of invasive infection. The aims of this study were to describe the incidence and factors associated with the occurrence of invasive GBS disease in adults in Norway. METHODS: We performed a nationwide retrospective case-control study of invasive GBS infections during 1996-2019, with two control groups; invasive Group A streptococcal disease (GAS) to control for changes in surveillance and diagnostics, and a second representing the general population. RESULTS: A total of 3710 GBS episodes were identified. The age-standardized incidence rate increased steadily from 1.10 (95% CI 0.80-1.50) in 1996 to 6.70 (95% CI 5.90-7.50) per 100,000 person-years in 2019. The incidence rate had an average annual increase of 6.44% (95% CI 5.12-7.78). Incidence rates of GAS varied considerably, and there was no evidence of a consistent change over the study period. GBS incidence was highest among adults > 60 years of age. Cardiovascular disease, cancer, and diabetes were the most common comorbid conditions. There was a shift in the distribution of capsular serotypes from three dominant types to more equal distribution among the six most common serotypes. CONCLUSIONS: The incidence of invasive GBS disease in adults increased significantly from 1996 to 2019. The increasing age of the population with accompanying underlying comorbid conditions might contribute to the increasing burden of invasive GBS disease. Interestingly, type 1 diabetes was also associated with the occurrence of invasive GBS disease.
RESUMO
Guillain Barre syndrome (GBS) following Varicella zoster is a rare presentation and has only been reported in a few cases around the world. Of the reported cases, the type of GBS is not specified in the majority, and where specified is of the acute inflammatory demyelinating polyradiculoneuropathy (AIDP) type. We report a case of acute motor axonal neuropathy (AMAN) type GBS following herpes zoster in a 27-year-old male who presented with bilateral lower limb weakness and left sided lower motor neuron type facial nerve palsy a week after herpes zoster infection.
Assuntos
Síndrome de Guillain-Barré , Herpes Zoster , Infecção pelo Vírus da Varicela-Zoster , Masculino , Humanos , Adulto , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/diagnóstico , Condução Nervosa/fisiologia , AmantadinaRESUMO
BACKGROUND: Common complications following kidney transplant include infection, rejection, and malignancy. Multiple masses in a transplanted kidney raise suspicion for malignancy. CASE PRESENTATION: A 20-year-old female with chronic kidney disease stage 3 T presented with graft tenderness, acute kidney injury, and heterogeneous masses in her transplanted kidney visualized via ultrasound. She was inadequately treated for chlamydia 1 month prior and retested positive upon admission. Initial workup revealed anemia, hyperglycemia, hyperuricemia, and elevated lactate dehydrogenase. Magnetic resonance imaging revealed complex masses of varying sizes in the transplanted kidney. Biopsy grew Streptococcus agalactiae, informing the diagnosis of multiple perinephric abscesses. Additional evaluations for infectious etiology were unremarkable. Her perinephric abscesses resolved with several months of antibiotics. CONCLUSIONS: Even without a clear source, serious infections may develop in kidney transplant patients who otherwise have concern for malignancy. Chlamydial infections may lead to serious intra-abdominal infections in immunocompromised patients. The inadequately treated chlamydia likely led to polymicrobial ascension of the genitourinary tract that seeded the transplanted kidney. A high index of suspicion for infection is essential in immunosuppressed patients. Biopsy is crucial for a timely diagnosis.
Assuntos
Transplante de Rim , Neoplasias , Feminino , Humanos , Adulto Jovem , Adulto , Abscesso/etiologia , Abscesso/patologia , Rim/diagnóstico por imagem , Rim/patologia , Transplante de Rim/efeitos adversos , Aloenxertos , Neoplasias/etiologiaRESUMO
BACKGROUND: To evaluate the performance of simultaneous amplification and testing (SAT) assay for the detection of group B Streptococcus (GBS) in maternal vaginal and perianal swabs compared with real-time polymerase chain reaction (RT-PCR). METHODS: We obtained vaginal and perianal swabs from 1474 pregnant women at the Obstetrics and Gynecology Hospital of Fudan University (Shanghai, China) between April 2023 and June 2023. Vaginal and perianal swabs were collected at 35-37 weeks of gestation. Swabs were tested for GBS simultaneously by using the SAT assay and RT-PCR, and a comparative analysis (kappa coefficient) was performed. Furthermore, we conducted additional droplet digital PCR (ddPCR) tests to confirm the results when there were controversial results between SAT and RT-PCR. In addition, we compared the limit of detection, technical specificity, repeatability and reproducibility of SAT-GBS with those of routine RT-PCR assays. RESULTS: In our study, the detection rate of clinical GBS according to the SAT assay was 11.5% (169/1471). The SAT assay showed a sensitivity of 91.8%, a specificity of 99.9%, a diagnostic accuracy of 98.9%, a positive predictive value (PPV) of 99.4% and a negative predictive value (NPV) of 98.8%. The kappa value between RT-PCR and SAT was 0.917. CONCLUSIONS: This SAT assay for the detection of group B Streptococcus is not only easy to perform but can also detect GBS sensitively and specifically and may be used in the regular molecular diagnosis of GBS infection among pregnancies.
Assuntos
Complicações Infecciosas na Gravidez , Reação em Cadeia da Polimerase em Tempo Real , Sensibilidade e Especificidade , Infecções Estreptocócicas , Streptococcus agalactiae , Vagina , Humanos , Feminino , Streptococcus agalactiae/genética , Streptococcus agalactiae/isolamento & purificação , Gravidez , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/microbiologia , Reação em Cadeia da Polimerase em Tempo Real/métodos , Vagina/microbiologia , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/microbiologia , Reprodutibilidade dos Testes , Adulto , China , Técnicas de Amplificação de Ácido Nucleico/métodosRESUMO
Guillain-Barre syndrome (GBS) is the commonest cause of acute polyradiculoneuropathy that requires hospitalization. Many of these patients experience systemic and disease-related complications during its course. Notable among them is hyponatremia. Though recognized for decades, the precise incidence, prevalence, and mechanism of hyponatremia in GBS are not well known. Hyponatremia in GBS patients is associated with more severe in-hospital disease course, prolonged hospitalization, higher mortality, increased costs, and a greater number of other complications in the hospital and worse functional status at 6 months and at 1 year. Though there are several reports of low sodium associated with GBS, many have not included the exact temporal relationship of sodium or its serial values during GBS thereby underestimating the exact incidence, prevalence, and magnitude of the problem. Early detection, close monitoring, and better understanding of the pathophysiology of hyponatremia have therapeutic implications. We review the complexities of the relationship between hyponatremia and GBS with regard to its pathophysiology and treatment.
RESUMO
Streptococcus agalactiae (Group B Streptococcus, GBS) is an opportunistic pathogen causing urinary tract infection (UTI). Endolysin EN572-5 was identified in prophage KMB-572-E of the human isolate Streptococcus agalactiae KMB-572. The entire EN572-5 gene was cloned into an expression vector and the corresponding recombinant protein EN572-5 was expressed in Escherichia coli in a soluble form, isolated by affinity chromatography, and characterized. The isolated protein was highly active after 30 min incubation in a temperature range of - 20 °C to 37 °C and in a pH range of 5.5-8.0. The endolysin EN572-5 lytic activity was tested on different Streptococcus spp. and Lactobacillus spp. The enzyme lysed clinical GBS (n = 31/31) and different streptococci (n = 6/8), and also exhibited moderate lytic activity against UPEC (n = 4/4), but no lysis of beneficial vaginal lactobacilli (n = 4) was observed. The ability of EN572-5 to eliminate GBS during UTI was investigated using an in vitro model of UPSA. After the administration of 3 µM EN572-5, a nearly 3-log decrease of urine bacterial burden was detected within 3 h. To date, no studies have been published on the use of endolysins against S. agalactiae during UTI. KEY POINTS: ⢠A lytic protein, EN572-5, from a prophage of a human GBS isolate has been identified. ⢠This protein is easily produced, simple to prepare, and stable after lyophilization. ⢠The bacteriolytic activity of EN572-5 was demonstrated for the first time in human urine.
Assuntos
Streptococcus agalactiae , Infecções Urinárias , Humanos , Feminino , Streptococcus agalactiae/genética , Endopeptidases/genética , Infecções Urinárias/tratamento farmacológico , Bacteriólise , Escherichia coli/genética , LactobacillusRESUMO
Leaf rust, caused by Puccinia triticina, is a major cause of wheat yield losses globally, and novel leaf rust resistance genes are needed to enhance wheat leaf rust resistance. Teremai Bugdai is a landrace from Uzebekistan that is highly resistant to many races of P. triticina in the United States. To unravel leaf rust resistance loci in Teremai Bugdai, a recombinant inbred line (RIL) population of Teremai Bugdai × TAM 110 was evaluated for response to P. triticina race Pt54-1 (TNBGJ) and genotyped using single nucleotide polymorphism (SNP) markers generated by genotyping-by-sequencing (GBS). Quantitative trait loci (QTL) analysis using 5,130 high-quality GBS-SNPs revealed three QTLs, QLr-Stars-2DS, QLr-Stars-6BL, and QLr.Stars-7BL, for leaf rust resistance in two experiments. QLr-Stars-2DS, which is either a new Lr2 allele or a new resistance locus, was delimited to an â¼19.47-Mb interval between 46.4 and 65.9 Mb on 2DS and explained 31.3 and 33.2% of the phenotypic variance in the two experiments. QLr-Stars-6BL was mapped in an â¼84.0-kb interval between 719.48 and 719.56 Mb on 6BL, accounting for 33 to 36.8% of the phenotypic variance in two experiments. QLr.Stars-7BL was placed in a 350-kb interval between 762.41 and 762.76 Mb on 7BL and explained 4.4 to 5.3% of the phenotypic variance. Nine GBS-SNPs flanking these QTLs were converted to kompetitive allele specific PCR (KASP) markers, and these markers can be used to facilitate their introgression into locally adapted wheat lines.
Assuntos
Resistência à Doença , Doenças das Plantas , Puccinia , Locos de Características Quantitativas , Triticum , Locos de Características Quantitativas/genética , Doenças das Plantas/microbiologia , Doenças das Plantas/genética , Doenças das Plantas/imunologia , Resistência à Doença/genética , Triticum/genética , Triticum/microbiologia , Triticum/imunologia , Puccinia/fisiologia , Uzbequistão , Polimorfismo de Nucleotídeo Único/genética , Genótipo , Mapeamento Cromossômico , Basidiomycota/fisiologia , Fenótipo , Folhas de Planta/microbiologia , Folhas de Planta/genética , Folhas de Planta/imunologiaRESUMO
BACKGROUND: Guillain-Barré syndrome (GBS), as the most common cause of acute flaccid paralysis worldwide, is considered a part of a clinical spectrum in which discrete, complete, or incomplete forms of GBS and overlapping syndromes lie on the basis of their clinical features. The term overlapping Miller Fisher syndrome (MFS)/GBS is used when patients with MFS also suffer from progressive motor weakness of the limbs. Anti-ganglioside GQ1b has been specifically associated with MFS and ophthalmoplegia. CASE DESCRIPTION: Here, we report a Chinese girl who was diagnosed with overlapping MFS/GBS showing acute flaccid paralysis of all four limbs, sensory symptoms, cranial nerve dysfunction, autonomic involvement, ophthalmoplegia, and ataxia. She had high serum and cerebrospinal fluid titres of monospecific anti-GM4 IgG antibody instead of anti-GQ1b antibody in the acute phase. CONCLUSION: Anti-GM4 antibodies usually coexist with other antiganglioside antibodies, leading to missed diagnoses. The findings of the present study show that antibodies to ganglioside GM4 may in overlapping MFS/GBS as the lone immunological factors.
Assuntos
Viroses do Sistema Nervoso Central , Síndrome de Guillain-Barré , Síndrome de Miller Fisher , Mielite , Doenças Neuromusculares , Oftalmoplegia , Feminino , Humanos , China , Gangliosídeos , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Miller Fisher/diagnóstico , Oftalmoplegia/diagnóstico , Pré-EscolarRESUMO
INTRODUCTION: Guillain-Barré syndrome (GBS) is a rare but serious condition that carries with it a high rate of morbidity and mortality. OBJECTIVE: This review highlights the pearls and pitfalls of GBS, including presentation, diagnosis, and management in the emergency department (ED) based on current evidence. DISCUSSION: GBS is a rare immune-mediated neurologic disorder with peripheral nerve injury. It most commonly presents weeks after a bacterial or viral infection, though there are a variety of associated inciting events. The diagnosis is challenging and often subtle, as only 25-30% of patients are diagnosed on their initial healthcare visit. Clinicians should consider GBS in patients with progressive ascending weakness involving the lower extremities associated with hyporeflexia, but the cranial nerves, respiratory system, and autonomic system may be involved. While the ED diagnosis should be based on clinical assessment, further evaluation includes laboratory testing, cerebrospinal fluid (CSF) analysis, and potentially neuroimaging. Not all patients demonstrate albumino-cytological dissociation on CSF testing. Several criteria exist to assist with diagnosis, including the National Institute of Neurological Disorders and Stroke criteria and the Brighton criteria. Management focuses first on assessment of the patient's hemodynamic and respiratory status, which may require emergent intervention. Significant fluctuations in heart rate and blood pressure may occur, and respiratory muscle weakness may result in the need for airway protection. Neurology consultation is recommended, and definitive treatment includes PLEX or IVIG. CONCLUSIONS: An understanding of GBS can assist emergency clinicians in diagnosing and managing this potentially deadly disease.
Assuntos
Síndrome de Guillain-Barré , Humanos , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/epidemiologia , Síndrome de Guillain-Barré/terapia , Prevalência , Debilidade MuscularRESUMO
BACKGROUND: GuillainâBarre syndrome (GBS) is an acute inflammatory peripheral neuropathy caused by autoimmunity. Gangliosides and sulfatides are important components of peripheral nerves. Anti-sulfatide antibody-mediated complement is associated with acute sensorimotor peripheral neuropathy in GBS, which is characterized by pain and paresthesias. CASE PRESENTATION: The child was a 7-year-old girl with headache and abdominal pain, followed by limb numbness and pain. Cranial imaging showed ventricular dilatation, peripheral nerve function conduction examination showed polyradiculopathy, and cerebrospinal fluid tests showed normal cell counts but elevated protein levels, all of which led to the diagnosis of GBS. After treatment with intravenous immunoglobulin (400 mg/kg × 5 days), the symptoms did not improve, and muscle strength progressively worsened, accompanied by paroxysmal complexion flushing, heart rate fluctuation, hyperhidrosis, and a progressive increase in cerebrospinal fluid protein (up to 3780.1 mg/L). On the basis of these findings combined with serum anti-sulfatide IgM positivity, anti-sulfatide antibody-related GBS was considered, and treatment with low-dose prednisolone (1 mg/kg/d) led to symptom improvement. CONCLUSIONS: Anti-sulfatide antibody-associated GBS is associated with small fiber peripheral neuropathy. The main manifestations are pain, paresthesias and autonomic dysfunction. In addition to the dysfunction of spinal nerve root absorption caused by increased cerebrospinal fluid protein, autonomic dysfunction may be involved in pain. When the therapeutic effect of immunoglobulin is not satisfactory, a low dose and short course of corticosteroids can be considered, and the prognosis is good.
Assuntos
Dor Abdominal , Síndrome de Guillain-Barré , Cefaleia , Sulfoglicoesfingolipídeos , Humanos , Feminino , Criança , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/tratamento farmacológico , Dor Abdominal/etiologia , Cefaleia/etiologia , Cefaleia/tratamento farmacológico , Sulfoglicoesfingolipídeos/imunologia , Autoanticorpos/sangue , Prednisolona/uso terapêuticoRESUMO
OBJECTIVE: To elucidate the association between GBS infection and maternal risk for obstetric hemorrhage (OBH) and OBH-related morbidities (OBH-M). METHODS: This was a retrospective cohort study of all deliveries with a documented GBS status at a single large academic medical center from 2018 to 2019. GBS status was determined by either urine culture or rectovaginal culture collected during the antepartum period. The primary outcomes were quantitative blood loss (QBL), OBH, and a composite of OBH-M. Secondary outcomes were individual components of the OBH-M composite and frequency of hemorrhage-related interventions utilized intrapartum and postpartum. A stratified analysis was conducted examining only patients who were diagnosed intrapartum with an intrapartum intraamniotic infection (III). RESULTS: Of 4679 pregnant individuals who delivered a live infant between January 1, 2018 and January 1,2019 with a documented GBS status, 1,487 were identified as GBS positive (+) and 3192 were identified as GBS negative (-). The GBS + group did not have significantly higher QBL (p = 0.29) or rate of OBH (p = 0.35). There were no significant differences by GBS status in OBH morbidity (p = 0.79) or its individual components or frequency of individual pharmacologic or non-pharmacologic OBHrelated interventions. There were also no significant differences by GBS status among patients with an III. CONCLUSIONS FOR PRACTICE: GBS infection at the time of delivery was not associated with increased risk for OBH or OBH-M. Further research is needed to further explore the relationship between peripartum infections and OBH risk.
Assuntos
Hemorragia Pós-Parto , Infecções Estreptocócicas , Streptococcus agalactiae , Humanos , Feminino , Gravidez , Infecções Estreptocócicas/epidemiologia , Infecções Estreptocócicas/complicações , Estudos Retrospectivos , Adulto , Streptococcus agalactiae/isolamento & purificação , Hemorragia Pós-Parto/epidemiologia , Hemorragia Pós-Parto/etiologia , Complicações Infecciosas na Gravidez/epidemiologia , Fatores de Risco , Estudos de CoortesRESUMO
Guillain-Barré syndrome (GBS) is an autoimmune-driven condition characterized by acute polyneuropathy, often emerging as a sequel to prior infections or vaccinations. This study presents the first reported cases of GBS emerging after the full recovery from coronavirus disease 2019 (COVID-19) infection in Korea. Despite experiencing mild acute COVID-19 symptoms, these patients faced substantial weakness attributed to GBS, significantly affecting their daily lives. The timely administration of intravenous immunoglobulin treatment halted the progression of symptoms, underscoring the critical importance of early intervention. These cases highlight the potential for neurological complications associated with COVID-19 and underscore the necessity for continuous monitoring and timely medical care.