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1.
Front Pharmacol ; 15: 1381107, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38841370

RESUMO

Background: Respiratory Syncytial Virus (RSV) is the primary cause of respiratory infections and hospitalizations in young children globally, leading to substantial disease burden and mortality. The aim of the present study was to review and provide updates on how the SARS-CoV-2 pandemic have significantly influenced RSV epidemiology on hospitalized children due to RSV infection. A potential impact of the available preventive strategies on the same population were provided. Methods: All children aged 0-6 years hospitalized at Meyer Children's Hospital IRCCS for RSV infection from September 2014 to March 2023 were retrospectively recorded. Seasonal trends before and after SARS-CoV-2 pandemic, age distribution, ICU admission and co-infections, comorbidities and prematurity were retrieved. Predictions on the number of hospitalizations avoided by the deployment of different preventive strategies were provided. Results: A total of 1,262 children with RSV infection were included in the study. The 70% of them had less than 1 year-of-age at the moment of hospitalization and almost 50% less than 3 months. In the post-pandemic seasons, a 317% increase in the number of hospitalizations was recorded with a significant increase in older children compared to the pre-pandemic seasons. ICU support was required for 22% of children, the majority of whom were under 3 months of age. Almost 16% of hospitalized children were born preterm and only 27% of hospitalized children had prior comorbidities. The rate of comorbidities among RSV hospitalized children increased with age. Nirsevimab prophylaxis could have prevented more than 46% of hospitalizations in this cohort. A preventive strategy addressing also children aged 7 months to 6 years of age with co-existing comorbidities would increase that rate above 57%. Discussion: The identification of RSV hospitalization-related features is informing the decision-maker for the deployment of the wisest preventive approach on a population scale.

3.
Front Immunol ; 15: 1282804, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38415256

RESUMO

Background: Hemophagocytic Lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by a severe impairment of the immune homeostasis. While Familial-HLH (FHL) is a known cause, the involvement of other Inborn Errors of Immunity (IEI) in pediatric-HLH remains understudied. Objective: This systematic review aimed to assess the clinical features, triggers, laboratory data, treatment, and outcomes of pediatric HLH patients with IEI other than FHL (IEInotFHL), emphasizing the importance of accurate identification and management. Methods: A systematic search for studies meeting inclusion criteria was conducted in PubMed, EMBASE, MEDLINE, and Cochrane Central. Quality assessment was performed through JBI criteria. Results: A comprehensive search yielded 108 records meeting inclusion criteria, involving 178 patients. We identified 46 different IEI according to IUIS 2022 Classification. Combined immunodeficiencies, immune dysregulation disorders, and phagocyte defects were the IEI most frequently associated with HLH. In 75% of cases, HLH preceded the IEI diagnosis, often with an unrecognized history of severe infections. Triggers reflected the specific infection susceptibilities within IEI groups. Liver and central nervous system involvement were less common than in FHL cases. Treatment approaches and outcomes varied, with limited long-term follow-up data, limiting the assessment of therapeutic efficacy across IEI groups. Conclusion: A comprehensive evaluation encompassing immunological, infectious, and genetic aspects is essential in pediatric-HLH. Relying solely on FHL or EBV susceptibility disorders tests is insufficient, as diverse other IEI can contribute to HLH. Early recognition of HLH as a potential warning sign can guide timely diagnostic investigations and facilitate tailored therapeutic interventions for improved outcomes. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=371425, PROSPERO, CRD42022371425.


Assuntos
Doenças do Sistema Imunitário , Linfo-Histiocitose Hemofagocítica , Criança , Humanos , Suscetibilidade a Doenças , Homeostase , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/genética , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Doenças do Sistema Imunitário/diagnóstico
4.
J Comput Biol ; 30(12): 1277-1288, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37883640

RESUMO

The transposition distance problem is a classical problem in genome rearrangements, which seeks to determine the minimum number of transpositions needed to transform a linear chromosome into another represented by the permutations π and σ, respectively. This article focuses on the equivalent problem of sorting by transpositions (SBT), where σ is the identity permutation ι. Specifically, we investigate palisades, a family of permutations that are "hard" to sort, as they require numerous transpositions above the celebrated lower bound devised by Bafna and Pevzner. By determining the transposition distance of palisades, we were able to provide the exact transposition diameter for 3-permutations (TD3), a special subset of the symmetric group Sn, essential for the study of approximate solutions for SBT using the simplification technique. The exact value for TD3 has remained unknown since Elias and Hartman showed an upper bound for it. Another consequence of determining the transposition distance of palisades is that, using as lower bound the one by Bafna and Pevzner, it is impossible to guarantee approximation ratios lower than 1.375 when approximating SBT. This finding has significant implications for the study of SBT, as this problem has been the subject of intense research efforts for the past 25 years.


Assuntos
Algoritmos , Genoma , Rearranjo Gênico , Modelos Genéticos
5.
Front Endocrinol (Lausanne) ; 14: 1209577, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37635986

RESUMO

Introduction: The chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms, hypocalcemia, palatal dysfunction, developmental or neuropsychiatric disorders, and impairment of the immune system due to thymic dysfunction. Other genetic syndromes, often called DiGeorge-like, share clinical and immunological features with 22q11.2 deletion syndrome. This syndrome has been rarely associated with malignancies, mainly hematological but also hepatic, renal, and cerebral. Rarely, malignancies in the head and neck region have been described, although no aggregate of data on the development of thyroid neoplasms in patients with this clinical phenotype has been conducted so far. Materials and methods: To characterize this possible association, a multicenter survey was made. Thus, we present a case series of five pediatric patients with 22q11.2 deletion syndrome or DiGeorge-like syndrome who were occasionally found with confirmed or highly suspected neoplasms of the thyroid gland during their follow-up. In three cases, malignancies were histologically confirmed, but their outcome was good due to an early recognition of suspicious nodules and precocious surgery. Conclusions: This study underlines for clinicians the higher risk of neoplasms in the head and neck district for patients affected by these syndromes. It also emphasizes the importance of a prolonged clinical and ultrasound follow-up for patients with this clinical and immunological phenotype.


Assuntos
Síndrome de DiGeorge , Neoplasias da Glândula Tireoide , Humanos , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Seguimentos , Neoplasias da Glândula Tireoide/etiologia , Neoplasias da Glândula Tireoide/genética , Pescoço
6.
Acta Crystallogr A Found Adv ; 79(Pt 2): 132-144, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36862039

RESUMO

Machine learning was employed on the experimental crystal structures of the Cambridge Structural Database (CSD) to derive an intermolecular force field for all available types of atoms (general force field). The obtained pairwise interatomic potentials of the general force field allow for the fast and accurate calculation of intermolecular Gibbs energy. The approach is based on three postulates regarding Gibbs energy: the lattice energy must be below zero, the crystal structure must be a local minimum, and, if available, the experimental and the calculated lattice energy must coincide. The parametrized general force field was then validated regarding these three conditions. First, the experimental lattice energy was compared with the calculated energies. The observed errors were found to be in the order of experimental errors. Second, Gibbs lattice energy was calculated for all structures available in the CSD. Their energy values were found to be below zero in 99.86% of the cases. Finally, 500 random structures were minimized, and the change in density and energy was examined. The mean error in the case of density was below 4.06%, and for energy it was below 5.7%. The obtained general force field calculated Gibbs lattice energies of 259 041 known crystal structures within a few hours. Since Gibbs energy defines the reaction energy, the calculated energy can be used to predict chemical-physical properties of crystals, for instance, the formation of co-crystals, polymorph stability and solubility.

7.
Photochem Photobiol Sci ; 22(3): 477-486, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36273368

RESUMO

In biological photoreceptors, the energy stored in early transient species is a key feature to drive the photocycle or a chain of reactions. Time-resolved photoacoustics (PA) can explore the energy landscape of transient species formed within few ns after photoexcitation, as well as volumetric changes (ΔV) of these intermediates with respect to the parental state. In this work, PA identified these important parameters for several channelrhodopsins, namely CaChR1 from Chlamydomonas augustae and CrChR2 from Chlamydomonas reinhardtii and various variants. PA has access to the sub-ns formation of the early photoproduct P1 and to its relaxation, provided that this latter process occurs within a few µs. We found that ΔVP1 for CaChR1 is ca. 12 mL/mol, while it is much smaller for CrChR2 (4.7 mL/mol) and for H. salinarum bacteriorhodopsin (HsBR, ΔVK = 2.8 mL/mol). PA experiments on variants strongly indicate that part of this large ΔVP1 value for CaChR1 is caused by the protonation dynamics of the Schiff base counterion complex involving E169 and D299. PA data further show that the energy level of P1 is higher in CrChR2 (ca. 96 kJ/mol) than in CaChr1 (ca. 46 kJ/mol), comparable to the energy level of the K state of HsBR (60 kJ/mol). Instrumental to gain these molecular values from the raw PA data was the estimation of the quantum yield (Φ) for P1 formation via transient spectroscopy; for both channelrhodopsins, ΦP2 was evaluated as ca. 0.4.


Assuntos
Bacteriorodopsinas , Channelrhodopsins , Análise Espectral , Bacteriorodopsinas/química
8.
Genes (Basel) ; 13(9)2022 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-36140720

RESUMO

BACKGROUND: Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in patients with 22q11.2DS, although only a few well-structured longitudinal studies about autoimmune thyroid disease (ATD) have been reported. AIM: To longitudinally evaluate the frequency of thyroid anomalies and ATD in patients with 22q11.2DS. PATIENTS AND METHODS: Pediatric patients with a confirmed genetic diagnosis of 22q11.2DS were recruited and followed up on longitudinally. Clinical, biochemical, and immunological data were collected, as well as thyroid function, autoimmunity, and thyroid sonographic data. RESULTS: The study included 73 children with 22q11.2DS, with a mean follow-up duration of 9.51 ± 5.72 years. In all, 16 of the 73 enrolled patients (21.9%) developed ATD before 18 years of age (mean age 12.92 ± 3.66 years). A total of 20.5% developed Hashimoto's Thyroiditis (HT), of whom 50% required L-thyroxine treatment; 1.4% developed Graves Disease. Thyroid hypoplasia was found in 6/16 patients with ATD and left lobe hypoplasia in 9/16 patients. These features were also found in patients affected by 22q11.2DS without ATD. Among patients who developed ATD, at the first altered ultrasound scan, the most frequent anomalies suggestive of thyroiditis were inhomogeneous echotexture, diffuse or irregular hypo-echogenicity, and vascular overflow. CONCLUSION: We strongly recommend periodic screening of thyroid function and for autoimmunity in patients affected by 22q11.2DS. Along with blood tests, ultrasound scans of the thyroid gland should be performed periodically since some patients who go on to develop an ATD could have specific anomalies on ultrasound prior to any other anomaly.


Assuntos
Síndrome de DiGeorge , Cardiopatias Congênitas , Adolescente , Criança , Estudos de Coortes , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/epidemiologia , Síndrome de DiGeorge/genética , Cardiopatias Congênitas/genética , Humanos , Estudos Longitudinais , Tiroxina
9.
Algorithms Mol Biol ; 17(1): 1, 2022 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-35033127

RESUMO

BACKGROUND: SORTING BY TRANSPOSITIONS (SBT) is a classical problem in genome rearrangements. In 2012, SBT was proven to be [Formula: see text]-hard and the best approximation algorithm with a 1.375 ratio was proposed in 2006 by Elias and Hartman (EH algorithm). Their algorithm employs simplification, a technique used to transform an input permutation [Formula: see text] into a simple permutation [Formula: see text], presumably easier to handle with. The permutation [Formula: see text] is obtained by inserting new symbols into [Formula: see text] in a way that the lower bound of the transposition distance of [Formula: see text] is kept on [Formula: see text]. The simplification is guaranteed to keep the lower bound, not the transposition distance. A sequence of operations sorting [Formula: see text] can be mimicked to sort [Formula: see text]. RESULTS AND CONCLUSIONS: First, using an algebraic approach, we propose a new upper bound for the transposition distance, which holds for all [Formula: see text]. Next, motivated by a problem identified in the EH algorithm, which causes it, in scenarios involving how the input permutation is simplified, to require one extra transposition above the 1.375-approximation ratio, we propose a new approximation algorithm to solve SBT ensuring the 1.375-approximation ratio for all [Formula: see text]. We implemented our algorithm and EH's. Regarding the implementation of the EH algorithm, two other issues were identified and needed to be fixed. We tested both algorithms against all permutations of size n, [Formula: see text]. The results show that the EH algorithm exceeds the approximation ratio of 1.375 for permutations with a size greater than 7. The percentage of computed distances that are equal to transposition distance, computed by the implemented algorithms are also compared with others available in the literature. Finally, we investigate the performance of both implementations on longer permutations of maximum length 500. From the experiments, we conclude that maximum and the average distances computed by our algorithm are a little better than the ones computed by the EH algorithm and the running times of both algorithms are similar, despite the time complexity of our algorithm being higher.

10.
J Matern Fetal Neonatal Med ; 35(25): 6610-6614, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33906567

RESUMO

OBJECTIVE: Many very preterm infants are treated with phototherapy (PT) for hyperbilirubinemia and it has been reported that PT can negatively affect gut perfusion. Thus, our aim was to evaluate the occurrence of feeding intolerance in the course of PT in these patients. METHODS: We retrospectively studied infants born at 25+0-31+6 weeks from November 2017 to April 2020 who required PT during the first two weeks of life. Patients were used as their own controls recording for each one the occurrence of feeding intolerance after starting PT and the resumption of feeding tolerance after its termination. RESULTS: We studied 125 preterm infants of whom 58 (46%) developed a feeding intolerance which disappeared in 47 (81%) of them at the end of PT. Regression analysis showed a trend toward a not significant decrease of risk of feeding intolerance in infants with higher birth weight and age at the start of the first course of PT. CONCLUSION: We found that about half of our patients developed a transient feeding intolerance during PT that ceased in the vast majority of them after termination of the therapy. Further studies are necessary to confirm the correlation between PT and feeding intolerance.


Assuntos
Doenças do Prematuro , Recém-Nascido Prematuro , Lactente , Recém-Nascido , Humanos , Estudos Retrospectivos , Doenças do Prematuro/etiologia , Doenças do Prematuro/terapia , Recém-Nascido de muito Baixo Peso , Fototerapia/efeitos adversos
11.
Artigo em Inglês | MEDLINE | ID: mdl-34861718

RESUMO

OBJECTIVE: To investigate oxidative erythrocyte damage in dogs treated with different non-steroidal anti-inflammatory drugs. MATERIAL AND METHODS: Case-controlled prospective observational study using blood obtained from dogs presenting for lameness examinations or standard surgical procedures to a private referral clinic. Sampling was performed from April 2018 to July 2019. Groups comprised dogs receiving either metamizole (dipyrone) (22 dogs), carprofen (20 dogs) or meloxicam (20 dogs) for a minimum of 10 days. Dogs with gastrointestinal hemorrhage were excluded from the study. A complete hematological, as well as a basic biochemical profile were performed in every dog. Pappenheim stained blood smears were evaluated for eccentrocytes and brilliant cresyl blue stained smears for Heinz bodies. EDTA blood was frozen at -80°C immediately after sampling for measurement of superoxide dismutase and gluthathione peroxidase activity at an external laboratory. Hemoglobin concentration, superoxide dismutase and gluthathione peroxidase activities, reticulocyte count, eccentrocyte and Heinz body numbers were determined prospectively as key parameters for further statistical assessment with Kruskal-Wallis test and Dunn's multiple comparisons test. RESULTS: Dogs receiving metamizole showed a significant increase in eccentrocyte (median 14.5/500 cells vs. 0/500 cells in the other groups, p < 0.0001) and reticulocyte number (median 191.4 × 109/l vs. 31.6-37.9 × 109/l, p < 0.0001) and a significant decrease in hemoglobin concentration (median 8.4 mmol/l vs. 10.1-10.5 mmol/l, p < 0.0003). No significant difference in superoxide dismutase and gluthathione peroxidase activities was observed between dogs receiving metamizole and the other groups. Heinz bodies were not found in any of the dogs. CONCLUSION: Treatment with metamizole for 10 or more days resulted in decreased hemoglobin concentration, eccentrocytosis and reticulocytosis in dogs in this study. This might be a sign of increased oxidative damage caused by this drug. CLINICAL SIGNIFICANCE: Prolonged metamizole therapy should be evaluated critically in patients already affected by severe illness or underlying anaemia.


Assuntos
Dipirona , Preparações Farmacêuticas , Animais , Anti-Inflamatórios não Esteroides/efeitos adversos , Cães , Eritrócitos , Estresse Oxidativo
12.
Front Oncol ; 11: 681579, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34178670

RESUMO

BACKGROUND: Colorectal cancer (CRC) is a heterogeneous cancer. Its treatment depends on its anatomical site and distinguishes between colon, rectum, and rectosigmoid junction cancer. This study aimed to identify diagnostic and prognostic biomarkers using networks of CRC-associated transcripts that can be built based on competing endogenous RNAs (ceRNA). METHODS: RNA expression and clinical information data of patients with colon, rectum, and rectosigmoid junction cancer were obtained from The Cancer Genome Atlas (TCGA). The RNA expression profiles were assessed through bioinformatics analysis, and a ceRNA was constructed for each CRC site. A functional enrichment analysis was performed to assess the functional roles of the ceRNA networks in the prognosis of colon, rectum, and rectosigmoid junction cancer. Finally, to verify the ceRNA impact on prognosis, an overall survival analysis was performed. RESULTS: The study identified various CRC site-specific prognosis biomarkers: hsa-miR-1271-5p, NRG1, hsa-miR-130a-3p, SNHG16, and hsa-miR-495-3p in the colon; E2F8 in the rectum and DMD and hsa-miR-130b-3p in the rectosigmoid junction. We also identified different biological pathways that highlight differences in CRC behavior at different anatomical sites, thus reinforcing the importance of correctly identifying the tumor site. CONCLUSIONS: Several potential prognostic markers for colon, rectum, and rectosigmoid junction cancer were found. CeRNA networks could provide better understanding of the differences between, and common factors in, prognosis of colon, rectum, and rectosigmoid junction cancer.

13.
Methods Mol Biol ; 2191: 29-48, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32865737

RESUMO

For a successful characterization of channelrhodopsins with biophysical methods like FTIR, Raman, EPR and NMR spectroscopy and X-ray crystallography, large amounts of purified protein are requested. For proteins of eukaryotic origin, which are poorly expressing in bacterial systems or not at all, the yeast Pichia pastoris represents a promising alternative for overexpression. Here we describe the methods for cloning, overexpression and mutagenesis as well as the purification procedures for channelrhodopsin-2 from Chlamydomonas reinhardtii (CrChR2), channelrhodopsin-1 from Chlamydomonas augustae (CaChR1) and the scaffold protein MSP1D1 for reconstitution of the membrane proteins into nanodiscs. Finally, protocols are provided to study CaChR1 by FTIR difference spectroscopy and by time-resolved UV/Vis spectroscopy.


Assuntos
Channelrhodopsins/genética , Biologia Molecular/métodos , Nanocompostos/química , Saccharomycetales/genética , Fenômenos Biofísicos , Channelrhodopsins/química , Chlamydomonas/química , Regulação da Expressão Gênica/genética , Luz , Proteínas de Plantas/química , Espectroscopia de Infravermelho com Transformada de Fourier
14.
J Fungi (Basel) ; 6(4)2020 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-33255176

RESUMO

Most people infected with the fungus Paracoccidioides spp. do not get sick, but approximately 5% develop paracoccidioidomycosis. Understanding how host immunity determinants influence disease development could lead to novel preventative or therapeutic strategies; hence, we used two mouse strains that are resistant (A/J) or susceptible (B10.A) to P. brasiliensis to study how dendritic cells (DCs) respond to the infection. RNA sequencing analysis showed that the susceptible strain DCs remodeled their transcriptomes much more intensely than those from the resistant strain, agreeing with a previous model of more intense innate immunity response in the susceptible strain. Contrastingly, these cells also repress genes/processes involved in antigen processing and presentation, such as lysosomal activity and autophagy. After the interaction with P. brasiliensis, both DCs and macrophages from the susceptible mouse reduced the autophagy marker LC3-II recruitment to the fungal phagosome compared to the resistant strain cells, confirming this pathway's repression. These results suggest that impairment in antigen processing and presentation processes might be partially responsible for the inefficient activation of the adaptive immune response in this model.

15.
Theory Biosci ; 139(4): 349-359, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33219910

RESUMO

Many small nucleolar RNAs and many of the hairpin precursors of miRNAs are processed from long non-protein-coding host genes. In contrast to their highly conserved and heavily structured payload, the host genes feature poorly conserved sequences. Nevertheless, there is mounting evidence that the host genes have biological functions beyond their primary task of carrying a ncRNA as payload. So far, no connections between the function of the host genes and the function of their payloads have been reported. Here we investigate whether there is evidence for an association of host gene function or mechanisms with the type of payload. To assess this hypothesis we test whether the miRNA host genes (MIRHGs), snoRNA host genes (SNHGs), and other lncRNA host genes can be distinguished based on sequence and/or structure features unrelated to their payload. A positive answer would imply a functional and mechanistic correlation between host genes and their payload, provided the classification does not depend on the presence and type of the payload. A negative answer would indicate that to the extent that secondary functions are acquired, they are not strongly constrained by the prior, primary function of the payload. We find that the three classes can be distinguished reliably when the classifier is allowed to extract features from the payloads. They become virtually indistinguishable, however, as soon as only sequence and structure of parts of the host gene distal from the snoRNAs or miRNA payload is used for classification. This indicates that the functions of MIRHGs and SNHGs are largely independent of the functions of their payloads. Furthermore, there is no evidence that the MIRHGs and SNHGs form coherent classes of long non-coding RNAs distinguished by features other than their payloads.


Assuntos
MicroRNAs , RNA Longo não Codificante , MicroRNAs/genética , RNA Longo não Codificante/genética , RNA Nucleolar Pequeno/genética
16.
Evol Bioinform Online ; 15: 1176934319889974, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31839702

RESUMO

Scientific workflows can be understood as arrangements of managed activities executed by different processing entities. It is a regular Bioinformatics approach applying workflows to solve problems in Molecular Biology, notably those related to sequence analyses. Due to the nature of the raw data and the in silico environment of Molecular Biology experiments, apart from the research subject, 2 practical and closely related problems have been studied: reproducibility and computational environment. When aiming to enhance the reproducibility of Bioinformatics experiments, various aspects should be considered. The reproducibility requirements comprise the data provenance, which enables the acquisition of knowledge about the trajectory of data over a defined workflow, the settings of the programs, and the entire computational environment. Cloud computing is a booming alternative that can provide this computational environment, hiding technical details, and delivering a more affordable, accessible, and configurable on-demand environment for researchers. Considering this specific scenario, we proposed a solution to improve the reproducibility of Bioinformatics workflows in a cloud computing environment using both Infrastructure as a Service (IaaS) and Not only SQL (NoSQL) database systems. To meet the goal, we have built 3 typical Bioinformatics workflows and ran them on 1 private and 2 public clouds, using different types of NoSQL database systems to persist the provenance data according to the Provenance Data Model (PROV-DM). We present here the results and a guide for the deployment of a cloud environment for Bioinformatics exploring the characteristics of various NoSQL database systems to persist provenance data.

17.
Fortschr Neurol Psychiatr ; 87(12): 695-701, 2019 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-31390658

RESUMO

GOAL: The aim of the study was to investigate delusions of poisoning in people with paranoid schizophrenia. Specifically, how often delusions of poisoning occur, how the delusional content is represented and to what extent women and men differ in delusions of poisoning were analysed. METHODS & SAMPLE: Data were collected retrospectively from two psychiatric wards in Germany. Base material comprised the medical records of all persons receiving inpatient treatment due to their paranoid schizophrenia between 2010 and 2014 in one of the two psychiatric wards. The sample consisted of 156 people (96 women, 60 men) diagnosed with paranoid schizophrenia showing delusions of poisoning. RESULTS: Delusions of poisoning were a common delusional theme which significantly more often occurred in women than in men. Moreover, women were significantly more likely to have delusions of persecution in addition to their delusions of poisoning. Overall, people with delusions of poisoning often reported being poisoned by close relatives or health workers. Most of those affected assumed that poisoning was carried out through medication, food or drinks.


Assuntos
Delusões , Intoxicação , Esquizofrenia Paranoide , Feminino , Alemanha , Humanos , Masculino , Intoxicação/psicologia , Estudos Retrospectivos , Esquizofrenia Paranoide/psicologia , Psicologia do Esquizofrênico
18.
Genes (Basel) ; 9(8)2018 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-30049970

RESUMO

The telomerase RNA in yeasts is large, usually >1000 nt, and contains functional elements that have been extensively studied experimentally in several disparate species. Nevertheless, they are very difficult to detect by homology-based methods and so far have escaped annotation in the majority of the genomes of Saccharomycotina. This is a consequence of sequences that evolve rapidly at nucleotide level, are subject to large variations in size, and are highly plastic with respect to their secondary structures. Here, we report on a survey that was aimed at closing this gap in RNA annotation. Despite considerable efforts and the combination of a variety of different methods, it was only partially successful. While 27 new telomerase RNAs were identified, we had to restrict our efforts to the subgroup Saccharomycetacea because even this narrow subgroup was diverse enough to require different search models for different phylogenetic subgroups. More distant branches of the Saccharomycotina remain without annotated telomerase RNA.

19.
Front Immunol ; 9: 973, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29867954

RESUMO

Aim: Reactive oxygen species (ROS) produced by enzymes of the NADPH oxidase family serve as second messengers for cellular signaling. Processes such as differentiation and proliferation are regulated by NADPH oxidases. In the intestine, due to the exceedingly fast and constant renewal of the epithelium both processes have to be highly controlled and balanced. Nox1 is the major NADPH oxidase expressed in the gut, and its function is regulated by cytosolic subunits such as NoxO1. We hypothesize that the NoxO1-controlled activity of Nox1 contributes to a proper epithelial homeostasis and renewal in the gut. Results: NoxO1 is highly expressed in the colon. Knockout of NoxO1 reduces the production of superoxide in colon crypts and is not subsidized by an elevated expression of its homolog p47phox. Knockout of NoxO1 increases the proliferative capacity and prevents apoptosis of colon epithelial cells. In mouse models of dextran sulfate sodium (DSS)-induced colitis and azoxymethane/DSS induced colon cancer, NoxO1 has a protective role and may influence the population of natural killer cells. Conclusion: NoxO1 affects colon epithelium homeostasis and prevents inflammation.


Assuntos
Proliferação de Células , Colo/citologia , Células Epiteliais/citologia , Homeostase , Proteínas/genética , Espécies Reativas de Oxigênio/metabolismo , Proteínas Adaptadoras de Transdução de Sinal , Animais , Apoptose , Colite/induzido quimicamente , Neoplasias do Colo/induzido quimicamente , Modelos Animais de Doenças , Inflamação , Camundongos , Camundongos Knockout , NADPH Oxidase 1/genética , NADPH Oxidase 1/imunologia , NADPH Oxidases/genética , NADPH Oxidases/metabolismo , Proteínas/imunologia
20.
BMC Bioinformatics ; 19(1): 172, 2018 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-29769032

RESUMO

BACKGROUND: In phylogenetic reconstruction the result is a tree where all taxa are leaves and internal nodes are hypothetical ancestors. In a live phylogeny, both ancestral and living taxa may coexist, leading to a tree where internal nodes may be living taxa. The well-known Neighbor-Joining heuristic is largely used for phylogenetic reconstruction. RESULTS: We present Live Neighbor-Joining, a heuristic for building a live phylogeny. We have investigated Live Neighbor-Joining on datasets of viral genomes, a plausible scenario for its application, which allowed the construction of alternative hypothesis for the relationships among virus that embrace both ancestral and descending taxa. We also applied Live Neighbor-Joining on a set of bacterial genomes and to sets of images and texts. Non-biological data may be better explored visually when their relationship in terms of content similarity is represented by means of a phylogeny. CONCLUSION: Our experiments have shown interesting alternative phylogenetic hypothesis for RNA virus genomes, bacterial genomes and alternative relationships among images and texts, illustrating a wide range of scenarios where Live Neighbor-Joining may be used.


Assuntos
Modelos Genéticos , Filogenia , Plantas/química
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