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1.
N Engl J Med ; 386(24): 2283-2294, 2022 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-35704480

RESUMO

BACKGROUND: In June 2019, the Bolivian Ministry of Health reported a cluster of cases of hemorrhagic fever that started in the municipality of Caranavi and expanded to La Paz. The cause of these cases was unknown. METHODS: We obtained samples for next-generation sequencing and virus isolation. Human and rodent specimens were tested by means of virus-specific real-time quantitative reverse-transcriptase-polymerase-chain-reaction assays, next-generation sequencing, and virus isolation. RESULTS: Nine cases of hemorrhagic fever were identified; four of the patients with this illness died. The etiologic agent was identified as Mammarenavirus Chapare mammarenavirus, or Chapare virus (CHAPV), which causes Chapare hemorrhagic fever (CHHF). Probable nosocomial transmission among health care workers was identified. Some patients with CHHF had neurologic manifestations, and those who survived had a prolonged recovery period. CHAPV RNA was detected in a variety of human body fluids (including blood; urine; nasopharyngeal, oropharyngeal, and bronchoalveolar-lavage fluid; conjunctiva; and semen) and in specimens obtained from captured small-eared pygmy rice rats (Oligoryzomys microtis). In survivors of CHHF, viral RNA was detected up to 170 days after symptom onset; CHAPV was isolated from a semen sample obtained 86 days after symptom onset. CONCLUSIONS: M. Chapare mammarenavirus was identified as the etiologic agent of CHHF. Both spillover from a zoonotic reservoir and possible person-to-person transmission were identified. This virus was detected in a rodent species, O. microtis. (Funded by the Bolivian Ministry of Health and others.).


Assuntos
Arenavirus do Novo Mundo , Febre Hemorrágica Americana , RNA Viral , Roedores , Animais , Arenavirus do Novo Mundo/genética , Arenavirus do Novo Mundo/isolamento & purificação , Bolívia/epidemiologia , Infecção Hospitalar/transmissão , Infecção Hospitalar/virologia , Transmissão de Doença Infecciosa , Febre Hemorrágica Americana/complicações , Febre Hemorrágica Americana/genética , Febre Hemorrágica Americana/transmissão , Febre Hemorrágica Americana/virologia , Febres Hemorrágicas Virais/genética , Febres Hemorrágicas Virais/transmissão , Febres Hemorrágicas Virais/virologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Reação em Cadeia da Polimerase , RNA Viral/genética , RNA Viral/isolamento & purificação , Ratos/virologia , Roedores/virologia , Zoonoses Virais/transmissão , Zoonoses Virais/virologia
2.
Breast Cancer Res Treat ; 206(2): 329-335, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38743176

RESUMO

PURPOSE: Circulating cell-free DNA (cfDNA) is a promising biomarker for predicting treatment response and disease outcomes in Breast Cancer (BC) patients undergoing neoadjuvant chemotherapy (NAC). To determine if cfDNA originates from tumors, matching tumor and cfDNA gene mutations are necessary, often requiring tumor DNA sequencing. We assessed plasma cfDNA integrity by measuring concentrations and ratios of larger-to-smaller Alu DNA fractions as a potential biomarker, eliminating the need for prior tumor sequencing. METHODS: We included patients with localized and/or locally advanced BC receiving standard NAC alone or in combination with immunotherapy and/or anti-HER2 targeted therapy. Blood samples were collected before treatment, every 2 weeks during treatment, and before surgery. RESULTS: Of the 38 evaluated patients, only 28 completed the protocol and underwent surgery after NAC. Seven patients (25%) achieved a pathologic complete response (pCR). We found that cfDNA integrity (cfDNAI) levels at 15 days after starting NAC were significantly higher in patients who achieved pCR (p = 0.045) and correlated significantly with Disease-Free Survival (DFS) in univariate analysis (p = 0.0371). CONCLUSIONS: Evaluation of cfDNAI 2 weeks after NAC initiation appears to be an early biomarker for tumor pCR and DFS. Measuring Alu fragments of different lengths may replace techniques requiring prior tumor sequencing to measure ctDNA, reducing costs and complexity of cfDNA serial measurements in BC patients undergoing NAC.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Biomarcadores Tumorais , Neoplasias da Mama , Ácidos Nucleicos Livres , Terapia Neoadjuvante , Humanos , Feminino , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Neoplasias da Mama/sangue , Neoplasias da Mama/patologia , Terapia Neoadjuvante/métodos , Biomarcadores Tumorais/sangue , Pessoa de Meia-Idade , Projetos Piloto , Adulto , Idoso , Ácidos Nucleicos Livres/sangue , Ácidos Nucleicos Livres/genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , DNA Tumoral Circulante/sangue , DNA Tumoral Circulante/genética , Resultado do Tratamento , Prognóstico , Quimioterapia Adjuvante/métodos
3.
Pestic Biochem Physiol ; 202: 105921, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38879297

RESUMO

The evolution of resistance to insecticides poses a significant threat to pest management programs. Understanding the molecular mechanisms underlying insecticide resistance is essential to design sustainable pest control and resistance management programs. The fall armyworm, Spodoptera frugiperda, is an important insect pest of many crops and has a remarkable ability to evolve resistance to insecticides. In this study, we employed bulk segregant analysis (BSA) combined with DNA and RNA sequencing to characterize the molecular basis of spinetoram resistance in S. frugiperda. Analysis of genomic data derived from spinetoram selected and unselected bulks and the spinetoram-resistant and susceptible parental strains led to the identification of a three-nucleotide deletion in the gene encoding the nicotinic acetylcholine receptor α6 subunit (nAChR α6). Transcriptome profiling identified the upregulation of few genes encoding detoxification enzymes associated with spinetoram resistance. Thus, spinetoram resistance in S. frugiperda appears to be mediated mainly by target site insensitivity with a minor role of detoxification enzymes. Our findings provide insight into the mechanisms underpinning resistance to spinetoram in S. frugiperda and will inform the development of strategies to control this highly damaging, globally distributed crop pest.


Assuntos
Resistência a Inseticidas , Inseticidas , Spodoptera , Animais , Spodoptera/genética , Spodoptera/efeitos dos fármacos , Resistência a Inseticidas/genética , Inseticidas/farmacologia , Inseticidas/toxicidade , Perfilação da Expressão Gênica , Transcriptoma , Receptores Nicotínicos/genética , Receptores Nicotínicos/metabolismo , Macrolídeos
4.
Cytokine ; 161: 156059, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36272241

RESUMO

Glioblastoma (GBM) is a life-threatening disease that presents high morbidity and mortality. The standardized treatment protocol results in a global survival of less than three years in the majority of cases. Immunotherapies have gained wide recognition in cancer treatment; however, GBM has an immunosuppressive microenvironment diminishing the possible effectiveness of this therapy. In this sense, investigating the inflammatory settings and the tumoral nature of GBM patients are an important goal to create an individual plan of treatment to improve overall survival rate and quality of life of these patients. Thirty-two patients who underwent surgical resection of GBM were included in this study. Tumor samples and 10 mL of peripheral blood were collected and immediately frozen. TNF-a, IL-1a and IL-4 were evaluated in the tumor and TNF-a, IL-1a and TGF-b in the plasma by Luminex assay. Immunohistochemistry analysis to determine immune celular profile was done, including immunohistochemistry for CD20, CD68 and CD3. Three cases were excluded. Tumor topography, tumor nature, and tumor volume reconstructions were accurately analyzed by T1-weighted, T2-weighted, and FLAIR magnetic resonance imaging. We found that GBM patients with below median peripheral levels of TNF-a and IL-1a had a decreased survival rate when compared to above median patients. On the other hand, patients with below median peripheral levels of TGF-b increased overall survival rate. Intratumoral IL-1a above median was associated with higher number of macrophages and fewer with B cells. Furthermore, plasmatic TNF-a levels were correlated with intratumoral TNF-a levels, suggesting that peripheral cytokines are related to the tumoral microenvironment. Even though tumor size has no difference regarding survival rate, we found a negative correlation between intratumoral IL-4 and tumor size, where larger tumors have less IL-4 expression. Nevertheless, the tumoral nature had a significant effect in overall survival rate, considering that infiltrative tumors showed decreased survival rate and intratumoral TNF-a. Moreover, expansive tumors revealed fewer macrophages and higher T cells. In multiple variation analyzes, we demonstrated that infiltrative tumors and below median peripheral IL-1a expression represent 3 times and 5 times hazard ratio, respectively, demonstrating a poor prognosis. Here we found that peripheral cytokines had a critical role as prognostic tools in a small cohort of GBM patients.


Assuntos
Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/metabolismo , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Citocinas , Qualidade de Vida , Interleucina-4 , Prognóstico , Microambiente Tumoral
5.
J Neurol Neurosurg Psychiatry ; 94(11): 879-886, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37336643

RESUMO

BACKGROUND: Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) is a minimally invasive alternative to surgical resection for drug-resistant mesial temporal lobe epilepsy (mTLE). Reported rates of seizure freedom are variable and long-term durability is largely unproven. Anterior temporal lobectomy (ATL) remains an option for patients with MRgLITT treatment failure. However, the safety and efficacy of this staged strategy is unknown. METHODS: This multicentre, retrospective cohort study included 268 patients consecutively treated with mesial temporal MRgLITT at 11 centres between 2012 and 2018. Seizure outcomes and complications of MRgLITT and any subsequent surgery are reported. Predictive value of preoperative variables for seizure outcome was assessed. RESULTS: Engel I seizure freedom was achieved in 55.8% (149/267) at 1 year, 52.5% (126/240) at 2 years and 49.3% (132/268) at the last follow-up ≥1 year (median 47 months). Engel I or II outcomes were achieved in 74.2% (198/267) at 1 year, 75.0% (180/240) at 2 years and 66.0% (177/268) at the last follow-up. Preoperative focal to bilateral tonic-clonic seizures were independently associated with seizure recurrence. Among patients with seizure recurrence, 14/21 (66.7%) became seizure-free after subsequent ATL and 5/10 (50%) after repeat MRgLITT at last follow-up≥1 year. CONCLUSIONS: MRgLITT is a viable treatment with durable outcomes for patients with drug-resistant mTLE evaluated at a comprehensive epilepsy centre. Although seizure freedom rates were lower than reported with ATL, this series represents the early experience of each centre and a heterogeneous cohort. ATL remains a safe and effective treatment for well-selected patients who fail MRgLITT.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia do Lobo Temporal , Epilepsia , Terapia a Laser , Humanos , Epilepsia do Lobo Temporal/cirurgia , Estudos Retrospectivos , Convulsões/cirurgia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia/cirurgia , Resultado do Tratamento , Imageamento por Ressonância Magnética , Lasers
6.
J Evol Biol ; 36(2): 432-443, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36537369

RESUMO

Uncovering what predicts genetic diversity (GD) within species can help us access the status of populations and their evolutionary potential. Traits related to effective population size show a proportional association to GD, but evidence supports life-history strategies and habitat as the drivers of GD variation. Instead of investigating highly divergent taxa, focusing on one group could help to elucidate the factors influencing the GD. Additionally, most empirical data is based on vertebrate taxa; therefore, we might be missing novel patterns of GD found in neglected invertebrate groups. Here, we investigated the predictors of the GD in crabs (Brachyura) by compiling the most comprehensive cytochrome c oxidase subunit I (COI) available. Eight predictor variables were analysed across 150 species (16 992 sequences) using linear models (multiple linear regression) and comparative methods (PGLS). Our results indicate that population size fluctuation represents the most critical trait predicting GD, with species that have undergone bottlenecks followed by population expansion showing lower GD. Egg size, pelagic larval duration and habitat might play a role probably because of their association with how species respond to disturbances. Ultimately, K-strategists that have undergone bottlenecks are the species showing lower GD. Some variables do not show an association with GD as expected, most likely due to the taxon-specific role of some predictors, which should be considered in further investigations and generalizations. This work highlights the complexity underlying the predictors of GD and adds results from a marine invertebrate group to the current understanding of this topic.


Assuntos
Braquiúros , Animais , Braquiúros/genética , Variação Genética , Evolução Biológica , Ecossistema , Invertebrados , Demografia , Filogenia
7.
Microb Ecol ; 85(4): 1552-1563, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35426077

RESUMO

The fall armyworm Spodoptera frugiperda is an important polyphagous agricultural pest in the Western Hemisphere and currently invasive to countries of the Eastern Hemisphere. This species has two host-adapted strains named "rice" and "corn" strains. Our goal was to identify the occurrence of core members in the gut bacterial community of fall armyworm larvae from distinct geographical distribution and/or host strain. We used next-generation sequencing to identify the microbial communities of S. frugiperda from corn fields in Brazil, Colombia, Mexico, Panama, Paraguay, and Peru, and rice fields from Panama. The larval gut microbiota of S. frugiperda larvae did not differ between the host strains nor was it affected by the geographical distribution of the populations investigated. Our findings provide additional support for Enterococcus and Pseudomonas as core members of the bacterial community associated with the larval gut of S. frugiperda, regardless of the site of collection or strain. Further investigations are required for a deeper understanding of the nature of this relationship.


Assuntos
Microbioma Gastrointestinal , Zea mays , Animais , Spodoptera , Larva , Colômbia
8.
Microb Ecol ; 85(4): 1590-1607, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35543735

RESUMO

Microbiota has diverse roles in the life cycles of their hosts, affecting their growth, development, behavior, and reproduction. Changes in physiological conditions of the host can also impact the assemblage of host-associated microorganisms. However, little is known of the effects of host plant-prey-predatory mite interactions on mite microbiota. We compared the microbial communities of eggs and adult females of the two-spotted spider mite, Tetranychus urticae Koch (Acari: Tetranychidae), and of adult females of the predatory mite Neoseiulus californicus (McGregor) (Acari: Phytoseiidae) on four different host plants (cotton, maize, pinto bean, and tomato) by metabarcoding sequencing of the V3-V4 region of the 16S ribosomal RNA gene (16S rRNA), using the Illumina MiSeq platform. Only the egg microbiota of T. urticae was affected by the host plant. The microbiota of the predatory mite N. californicus was very different from that of its prey, and the predator microbiota was unaffected by the different host plant-prey systems tested. Only the microbiota of the eggs of T. urticae carried Serratia as a high fidelity-biomarker, but their low abundance in T. urticae adult females suggests that the association between Serratia and T. urticae is accidental. Biomarker bacteria were also detected in the microbiota of adult females of T. urticae and N. californicus, with different biomarkers in each host plant species. The microbiota associated with eggs and adult females of T. urticae and adult females of N. californicus differed in their functional potential contributions to the host mite.


Assuntos
Disbiose , Tetranychidae , Animais , Feminino , RNA Ribossômico 16S/genética , Reprodução , Estágios do Ciclo de Vida , Comportamento Predatório/fisiologia , Tetranychidae/fisiologia , Controle Biológico de Vetores
9.
Arch Virol ; 168(12): 286, 2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-37940763

RESUMO

The discovery rate of new plant viruses has increased due to studies involving high-throughput sequencing (HTS), particularly for single-stranded DNA viruses of the family Genomoviridae. We carried out an HTS-based survey of genomoviruses in a wide range of native and exotic trees grown in the Brazilian Cerrado biome, and the complete genome sequences of two novel members of the family Genomoviridae from two distinct genera were determined. Specific primers were designed to detect these genomoviruses in individual samples. A new gemykolovirus (Tecoma stans associated gemykolovirus) was detected in Tecoma stans, and a new gemykibivirus (Ouratea duparquetiana associated gemykibivirus) was detected in Ouratea duparquetiana. A gemykrogvirus related to Gila monster associated gemykrogvirus (80% pairwise identity) was also detected in foliar samples of Trembleya parviflora. Our pilot study paves the way for a better characterization of this diverse collection of genomoviruses as well as their interactions with the associated tree species.


Assuntos
Vírus de DNA , Plantas , Vírus de DNA/genética , Brasil , Projetos Piloto , Filogenia , Ecossistema , Árvores
10.
J Chem Inf Model ; 63(4): 1386-1400, 2023 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-36780300

RESUMO

Zika virus (ZIKV) from Uganda (UG) expresses a phenotype related to fetal loss, whereas the variant from Brazil (BR) induces microcephaly in neonates. The differential virulence has a direct relation to biomolecular mechanisms that make one strain more aggressive than the other. The nonstructural protein 1 (NS1) is a key viral toxin to comprehend these viral discrepancies because of its versatility in many processes of the virus life cycle. Here, we aim to examine through coarse-grained models and molecular dynamics simulations the protein-membrane interactions for both NS1ZIKV-UG and NS1ZIKV-BR dimers. A first evaluation allowed us to establish that the NS1 proteins, in the membrane presence, explore new conformational spaces when compared to systems simulated without a lipid bilayer. These events derive from both differential coupling patterns and discrepant binding affinities to the membrane. The N-terminal domain, intertwined loop, and greasy finger proposed previously as binding membrane regions were also computationally confirmed by us. The anchoring sites have aromatic and ionizable residues that manage the assembly of NS1 toward the membrane, especially for the Ugandan variant. Furthermore, in the presence of the membrane, the difference in the dynamic cross-correlation of residues between the two strains is particularly pronounced in the putative epitope regions. This suggests that the protein-membrane interaction induces changes in the distal part related to putative epitopes. Taken together, these results open up new strategies for the treatment of flaviviruses that would specifically target these dynamic differences.


Assuntos
Infecção por Zika virus , Zika virus , Humanos , Virulência/genética , Proteínas não Estruturais Virais/química , Anticorpos Antivirais , Epitopos
11.
Environ Sci Technol ; 57(14): 5603-5610, 2023 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-36977057

RESUMO

The complex effects of ozonation on the photophysical and size-based properties of dissolved organic matter (DOM) were investigated using two DOM isolates, Suwannee River Fulvic Acid (SRFA) and Pony Lake Fulvic Acid (PLFA). A size exclusion chromatography system paired with absorbance, fluorescence, and total organic carbon detection was used to determine the fluorescence quantum yield (Φf) as a function of the apparent molecular weight (AMW). Size-based fractions of each isolate were collected and irradiated to measure singlet oxygen (1O2) quantum yield (Φ1O2). Φf decreased with ozonation in low AMW fractions, while increasing in high AMW fractions. Φ1O2 increased with ozone dose in low AMW fractions from ∼2 to ∼7% and ∼3 to ∼11% for PLFA and SRFA, respectively, indicating that these are the most photoreactive fractions of DOM. Decreases in Φf and concomitant increases in Φ1O2 in low AMW fractions indicated that chemical transformations occurred, likely including the conversion of phenols to quinones, particularly in SRFA. Results further suggest that the photoactive and fluorescent fractions of DOM are likely independent pools of chromophores from different AMW fractions. In PLFA, a linear response in Φ1O2, specific UV absorbance at wavelength 254 nm (SUVA254), and Φf with ozonation indicated the equal distribution of ozone-reactive moieties.


Assuntos
Ozônio , Oxigênio Singlete , Oxigênio Singlete/química , Matéria Orgânica Dissolvida , Processos Fotoquímicos , Fenóis
12.
Phys Chem Chem Phys ; 25(28): 19182-19194, 2023 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-37431676

RESUMO

The misfolding and aggregation of the presynaptic protein α-synuclein (α-syn) is a pathological hallmark of Parkinson's disease (PD). Targeting α-syn has emerged as a promising therapeutic strategy for PD. Emerging in vitro evidence supports a dual action of epigallocatechin-3-gallate (EGCG) against amyloid neurotoxicity. EGCG can halt the formation of toxic aggregates by redirecting the amyloid fibril aggregation pathway toward non-toxic aggregates and remodeling the existing toxic fibrils into non-toxic aggregates. Moreover, EGCG oxidation can enhance fibril's remodeling by forming Schiff bases, leading to crosslinking of the fibril. However, this covalent modification is not required for amyloid remodeling, and establishing non-specific hydrophobic interactions with sidechains seems to be the main driver of amyloid remodeling by EGCG. Thioflavin (ThT) is a gold standard probe to detect amyloid fibrils in vitro, and oxidized EGCG competes with ThT for amyloid fibrils' binding sites. In this work, we performed docking and molecular dynamics (MD) simulations to gain insights into the intermolecular interactions of oxidized EGCG and ThT with a mature α-syn fibril. We find that oxidized EGCG moves within lysine-rich sites within the hydrophobic core of the α-syn fibril, forming aromatic and hydrogen-bonding (H-bond) interactions with different residues during the whole MD simulation time. In contrast, ThT, which does not remodel amyloid fibrils, was docked to the same sites but only via aromatic interactions. Our findings suggest that non-covalent interactions play a role in oxidized EGCG binding into the hydrophobic core, including H-bond and aromatic interactions with some residues in the amyloid remodeling processes. These interactions would ultimately lead to a disturbance of structural features as determinants for stabilizing this fibril into a compact and pathogenic Greek key topology.


Assuntos
Catequina , Doença de Parkinson , Humanos , alfa-Sinucleína/química , Amiloide/química , Doença de Parkinson/metabolismo , Proteínas Amiloidogênicas , Catequina/química , Agregados Proteicos
13.
Appl Microbiol Biotechnol ; 107(11): 3699-3716, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37083969

RESUMO

Fungal colorants are gradually entering the global color market, given their advantages of being less harmful to human health, as well as having greater stability and biotechnological potential, compared to other natural sources. The present work concerns the isolation and identification of an endophytic filamentous fungus, together with the chemical characterization and assessment of the fluorescence, toxicity, stability, and application potential of its synthesized red colorant. The endophytic fungus was isolated from Hymenaea courbaril, a tree from the Brazilian savannah, and was identified as Talaromyces minnesotensis by phenotypic and genotypic characterization. Submerged cultivation of the fungus resulted in the production of approximately 12 AU500 of a red biocolorant which according to LC-DAD-MS analysis is characterized by being a complex mixture of molecules of the azaphilone class. Regarding cytotoxicity assays, activity against human hepatoblastoma (HepG2) cells was only observed at concentrations above 5.0 g L-1, while antimicrobial effects against pathogenic bacteria and yeast occurred at concentrations above 50.0 g L-1. The biocolorant showed high stability at neutral pH values and low temperatures (10 to 20 °C) and high half-life values (t1/2), which indicates potential versatility for application in different matrices, as observed in tests using detergent, gelatin, enamel, paint, and fabrics. The results demonstrated that the biocolorant synthesized by Talaromyces minnesotensis has potential for future biotechnological applications. KEY POINTS: • An endophytic fungus, which was isolated and identified, synthesize a red colorant. • The colorant showed fluorescence property, low toxicity, and application potential. • The red biocolorant was highly stable at pH 8.0 and temperatures below 20°C.


Assuntos
Talaromyces , Humanos , Temperatura , Temperatura Baixa , Alimentos , Concentração de Íons de Hidrogênio , Saccharomyces cerevisiae
14.
Curr Genomics ; 24(5): 330-335, 2023 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-38235354

RESUMO

Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF). Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy. Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF. Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote. Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects.

15.
IEEE Trans Inf Theory ; 69(3): 1509-1520, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37064162

RESUMO

In this article, we consider decoding Grassmann codes, linear codes associated to the Grassmannian and its embedding in a projective space. We look at the orbit structure of Grassmannian arising from the multiplicative group F q m * in G L m ( q ) . We project the corresponding Grassmann code onto these orbits to obtain a subcode of a q -ary Reed-Solomon code. We prove that some of these projections contain an information set of the parent Grassmann code. By improving the decoding capacity of Peterson's decoding algorithm for the projected subcodes, we prove that one can correct up to ⌊ ( d - 1 ) / 2 ⌋ errors for Grassmann code, where d is the minimum distance of Grassmann code.

16.
Acta Neurochir (Wien) ; 165(12): 3913-3920, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37957310

RESUMO

BACKGROUND: Epilepsy, a disease characterized by recurrent seizures, is a common chronic neurologic condition. Antiepileptic drugs (AED) are the mainstay of treatment for epilepsy. Vagus nerve stimulation (VNS) surgery is an adjuvant therapy for the treatment of drug refractory epilepsy (DRE). VNS revision and implant removal surgeries remain common. METHODS: Using a single neurosurgeon data registry for epilepsy surgery, we retrospectively analyzed a total of 824 VNS surgeries. Patients were referred to two Level IV Comprehensive Epilepsy centers (from 08/1997 to 08/2022) for evaluation. Patients were divided into four groups: new device placement, revision surgery, removal surgery, and battery replacement for end-of-life of the generator. The primary endpoint was to analyze the reasons that led patients to undergo revision and removal surgeries. The time period from the index surgery to the removal surgery was also calculated. RESULTS: The median age of patients undergoing any type of surgery was 34 years. The primary reason for revision surgeries was device malfunction, followed by patients' cosmetic dissatisfaction. There was no statistical sex-difference in revision surgeries. The median age and body mass index (BMI) of patients who underwent revision surgery were 38 years and 26, respectively. On the other hand, the primary reason for removal was lack of efficacy, followed again by cosmetic dissatisfaction. The survival analysis showed that 43% of VNS device remained in place for 5 years and 50% of the VNS devices were kept for 1533 days or 4.2 years. CONCLUSIONS: VNS therapy is safe and well-tolerated. VNS revision and removal surgeries occur in less than 5% of cases. More importantly, attention to detail and good surgical technique at the time of the index surgery can increase patient satisfaction, minimize the need for further surgeries, and improve acceptance of the VNS technology.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia , Estimulação do Nervo Vago , Humanos , Adulto , Estudos Retrospectivos , Epilepsia/terapia , Epilepsia Resistente a Medicamentos/cirurgia , Reoperação , Resultado do Tratamento , Nervo Vago
17.
J Med Internet Res ; 25: e44399, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37526967

RESUMO

BACKGROUND: Patient portals can facilitate the delivery of health care services and support self-management for patients with multiple chronic conditions. Despite their benefits, the evidence of patient portal use among patients with multimorbidity in rural communities is limited. OBJECTIVE: This study aimed to explore the factors associated with portal messaging use by rural patients. METHODS: We assessed patient portal use among patients with ≥1 chronic diagnoses who sent or received messages via the Epic MyChart (Epic Systems Corporation) portal between January 1, 2015, and November 9, 2021. Patient portal use was defined as sending or receiving a message through the portal during the study period. We fit a zero-inflated negative binomial model to predict portal use based on the patient's number of chronic conditions, sex, race, age, marital status, and insurance type. County-level characteristics, based on the patient's home address, were also included in the model to assess the influence of community factors on portal use. County-level factors included educational attainment, smartphone ownership, median income, and primary care provider density. RESULTS: A total of 65,178 patients (n=38,587, 59.2% female and n=21,454, 32.92% Black) were included in the final data set, of which 38,380 (58.88%) sent at least 1 message via the portal during the 7-year study period. As the number of chronic diagnoses increased, so did portal messaging use; however, this relationship was driven primarily by younger patients. Patients with 2 chronic conditions were 1.57 times more likely to send messages via the portal than those with 1 chronic condition (P<.001). In comparison, patients with ≥7 chronic conditions were approximately 11 times more likely to send messages than patients with 1 chronic condition (P<.001). A robustness check confirmed the interaction effect of age and the number of diagnoses on portal messaging. In the model including only patients aged <65 years, there was a significant effect of increased portal messaging corresponding to the number of chronic conditions (P<.001). Conversely, this relationship was not significant for the model consisting of older patients. Other significant factors associated with increased portal use include being female; White; married; having private insurance; and living in an area with a higher average level of educational attainment, greater medical provider density, and a lower median income. CONCLUSIONS: Patients' use of the portal to send messages to providers was incrementally related to their number of diagnoses. As the number of chronic diagnoses increased, so did portal messaging use. Patients of all ages, particularly those living in rural areas, could benefit from the convenience and cost-effectiveness of portal communication. Health care systems and providers are encouraged to increase the use of patient portals by implementing educational interventions to promote the advantages of portal communication, particularly among patients with multimorbidity.


Assuntos
Múltiplas Afecções Crônicas , Portais do Paciente , Envio de Mensagens de Texto , Feminino , Humanos , Masculino , Doença Crônica , Estudos Retrospectivos , População Rural , Telefone Celular
18.
Aging Ment Health ; 27(1): 166-175, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35352600

RESUMO

OBJECTIVES: The main objective of the current study was to evaluate the feasibility and acceptability of a cognitive-behavioral prevention intervention administered through a smartphone app in non-professional caregivers with symptoms of depression. The secondary objective was to make a preliminary evaluation of its effectiveness either alone or supplemented with telephone conference calls. METHODS: Eighty-seven participants (Mage = 51.8 years) were randomly assigned to an app-based cognitive-behavioral intervention (CBIA; n = 29), CBIA supplemented with telephone conference calls (CBIA + CC; n = 28), or an attention control group (ACG; n = 30). The participants for both interventions received five cognitive-behavioral modules through the app, and those in CBIA + CC an additional 30-minute phone call in each module. RESULTS: 3.4% of caregivers dropped out. In all groups, the number of modules completed was high. Participants completed a high percentage of the homework and were highly satisfied with both CBIA and CBIA + CC. At post-intervention, there was a lower incidence of depression and depressive symptoms for CBIA + CC compared with CBIA, and for CBIA and CBIA + CC compared with ACG. CONCLUSION: The results supported the feasibility and acceptability of the cognitive-behavioral intervention, and demonstrated that telephone contact improves its effectiveness.


Assuntos
Aplicativos Móveis , Humanos , Depressão/prevenção & controle , Depressão/diagnóstico , Projetos Piloto , Cuidadores , Telefone
19.
An Acad Bras Cienc ; 95(suppl 3): e20230732, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38126385

RESUMO

Several studies have utilized passive microwave imagery for monitoring snowmelt in Antarctica. However, due to the low spatial resolution of these images (25 km), the quantification of snowmelt is not precise. To enhance the accuracy of these estimations, this study proposed a subpixel analysis approach based on a Spectral Linear Mixing Model. This approach was applied to images obtained from channels 18/19 GHz and 37 GHz, both horizontally and vertically polarized, acquired from the Scanning Multichannel Microwave Radiometer (SMMR), Special Sensor Microwave Imager (SSM/I), and Special Sensor Microwave Imager/Sounder (SSM/IS) instruments, spanning the period 1978-2018. The spatiotemporal analysis of the estimated snowmelt fraction images indicated that the most persistent and intensive melt was observed on the Antarctic Peninsula, particularly on the Larsen, Wilkins, George VI, and Wordie ice shelves. The melting period in the Antarctic Peninsula began in late October, with a peak in early January, and ended in late March. Other regions with persistent and intensive snowmelt were Mary Bird Land and Wilkes Land, followed by Dronning Maud Land, Amery Ice Shelf, Filchner-Ronne Ice Shelf, and Ross Ice Shelf. These snowmelt data are valuable for modeling the impacts of snowmelt on glacial systems, local coastal environments, and sea-level rise.


Assuntos
Micro-Ondas , Regiões Antárticas
20.
Appl Surf Sci ; 623: 157015, 2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-36942083

RESUMO

Surface modification corresponds to a set of viable technological approaches to introduce antimicrobial properties in materials that do not have such characteristics. Antimicrobial materials are important to prevent the proliferation of microorganisms and minimize the transmission of diseases caused by pathogens. Herein, poly(lactic acid) (PLA) was decorated with nanocones through copper sputtering followed by a plasma etching. Antiviral assays by Quantitative Reverse Transcription-Polymerase Chain Reaction (RT-qPCR) show that nanostructured Cu-coated PLA has high antiviral activity against Omicron SARS-CoV-2, showing a relative reduction in the amplified RNA (78.8 ± 3.9 %). Atomic Force Microscopy (AFM), X-ray Photoelectron Spectroscopy (XPS), and wear-resistance tests show that 20 wear cycles disrupt the surface nanocone patterns and significantly reduce the Cu content at the surface of the nanostructured Cu-coated PLA, leading to total loss of the antiviral properties of nanostructured PLA against Omicron SARS-CoV-2.

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