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1.
Front Cell Infect Microbiol ; 11: 634215, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34381737

RESUMO

Bloodstream infections (BSIs), the presence of microorganisms in blood, are potentially serious conditions that can quickly develop into sepsis and life-threatening situations. When assessing proper treatment, rapid diagnosis is the key; besides clinical judgement performed by attending physicians, supporting microbiological tests typically are performed, often requiring microbial isolation and culturing steps, which increases the time required for confirming positive cases of BSI. The additional waiting time forces physicians to prescribe broad-spectrum antibiotics and empirically based treatments, before determining the precise cause of the disease. Thus, alternative and more rapid cultivation-independent methods are needed to improve clinical diagnostics, supporting prompt and accurate treatment and reducing the development of antibiotic resistance. In this study, a culture-independent workflow for pathogen detection and identification in blood samples was developed, using peptide biomarkers and applying bottom-up proteomics analyses, i.e., so-called "proteotyping". To demonstrate the feasibility of detection of blood infectious pathogens, using proteotyping, Escherichia coli and Staphylococcus aureus were included in the study, as the most prominent bacterial causes of bacteremia and sepsis, as well as Candida albicans, one of the most prominent causes of fungemia. Model systems including spiked negative blood samples, as well as positive blood cultures, without further culturing steps, were investigated. Furthermore, an experiment designed to determine the incubation time needed for correct identification of the infectious pathogens in blood cultures was performed. The results for the spiked negative blood samples showed that proteotyping was 100- to 1,000-fold more sensitive, in comparison with the MALDI-TOF MS-based approach. Furthermore, in the analyses of ten positive blood cultures each of E. coli and S. aureus, both the MALDI-TOF MS-based and proteotyping approaches were successful in the identification of E. coli, although only proteotyping could identify S. aureus correctly in all samples. Compared with the MALDI-TOF MS-based approaches, shotgun proteotyping demonstrated higher sensitivity and accuracy, and required significantly shorter incubation time before detection and identification of the correct pathogen could be accomplished.


Assuntos
Bacteriemia , Infecções Estafilocócicas , Bacteriemia/diagnóstico , Candida albicans , Escherichia coli , Humanos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Infecções Estafilocócicas/diagnóstico , Staphylococcus aureus
2.
Microbiol Resour Announc ; 10(19)2021 05 13.
Artigo em Inglês | MEDLINE | ID: mdl-33986075

RESUMO

We report the complete 8.94-Mb genome sequence of the type strain of Cupriavidus basilensis (DSM 11853T = CCUG 49340T = RK1T), formed by two chromosomes and six putative plasmids, which offers insights into its chloroaromatic-biodegrading capabilities.

6.
Int J Syst Evol Microbiol ; 70(12): 6067-6078, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33048039

RESUMO

When analysing a large cohort of Staphylococcus haemolyticus, using whole-genome sequencing, five human isolates (four from the skin and one from a blood culture) with aberrant phenotypic and genotypic traits were identified. They were phenotypically similar with yellow colonies, nearly identical 16S rRNA gene sequences and initially speciated as S. haemolyticus based on 16S rRNA gene sequence and MALDI-TOF MS. However, compared to S. haemolyticus, these five strains demonstrate: (i) considerable phylogenetic distance with an average nucleotide identity <95 % and inferred DNA-DNA hybridization <70  %; (ii) a pigmented phenotype; (iii) urease production; and (iv) different fatty acid composition. Based on the phenotypic and genotypic results, we conclude that these strains represent a novel species, for which the name Staphylococcus borealis sp. nov. is proposed. The novel species belong to the genus Staphylococcus and is coagulase- and oxidase-negative and catalase-positive. The type strain, 51-48T, is deposited in the Culture Collection University of Gothenburg (CCUG 73747T) and in the Spanish Type Culture Collection (CECT 30011T).


Assuntos
Sangue/microbiologia , Filogenia , Pele/microbiologia , Staphylococcus/classificação , Técnicas de Tipagem Bacteriana , Composição de Bases , DNA Bacteriano/genética , Ácidos Graxos/química , Humanos , Noruega , Hibridização de Ácido Nucleico , Pigmentação , RNA Ribossômico 16S/genética , Análise de Sequência de DNA , Staphylococcus/isolamento & purificação
7.
Antibiotics (Basel) ; 9(8)2020 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-32722499

RESUMO

Methicillin-resistant Staphylococcus aureus (MRSA) is a prevalent nosocomial pathogen, causing a wide range of diseases. The increased frequency of MRSA isolates in hospitals and the emergence of vancomycin resistance have sparked the search for new control strategies. This study aimed to characterize sixty-seven MRSA isolates collected from both infected patients and asymptomatic carriers in a Spanish hospital. RAPD-PCR allowed the identification of six genetic patterns. We also investigated the presence of genes involved in producing adhesins, toxins and the capsule; the biofilm; and antimicrobial resistance. A notable percentage of the isolates carried virulence genes and showed medium-high ability to form biofilms. Next, we assessed the strains' susceptibility to two phages (phiIPLA-C1C and phiIPLA-RODI) and one endolysin (LysRODI). All strains were resistant to phiIPLA-C1C, and most (70.2%) were susceptible to phiIPLA-RODI. Regarding LysRODI, all strains displayed susceptibility, although to varying degrees. There was a correlation between endolysin susceptibility and the random amplification of polymorphic DNA (RAPD) profile or the presence of some virulence genes (fnbA, eta, etb, PVL and czr), but that was not observed with biofilm-forming ability, strain origin or phage sensitivity. Taken together, these findings can help to explain the factors influencing endolysin effectiveness, which will contribute to the development of efficient therapies targeting MRSA infections.

8.
Int J Syst Evol Microbiol ; 70(8): 4544-4554, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32618559

RESUMO

The taxonomic status of six strains of Acinetobacter obtained from meat samples, collected from supermarkets in Porto, Portugal, was investigated using polyphasic analysis. Partial rpoB sequence similarities lower than 95 % to other Acinetobacter species with validly published names led to the hypothesis that these strains represented novel species. This was confirmed based on comparative multilocus sequence analysis, which included the gyrB, recA and 16S rRNA genes, revealing that these strains represented two coherent lineages that were distinct from each other and from all known species. The names Acinetobacter portensis sp. nov. (comprising four strains) and Acinetobacter guerrae sp. nov. (comprising two strains) are proposed for these novel species. The species status of these two groups was confirmed by low (below 95 %) whole-genome sequence average nucleotide identity values and low (below 70 %) digital DNA-DNA hybridization similarities between the whole-genome sequences of the proposed type strains of each novel species and the representatives of the known Acinetobacter species. Phylogenomic treeing from core genome analysis supported these results. The coherence of each new species lineage was supported by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry differentiation of the species at the protein level, by cellular fatty acid profiles, and by unique and differential combinations of metabolic and physiological properties shared by each novel species. The type strain of A. portensis sp. nov. is AC 877T (=CCUG 68672T=CCM 8789T) and the type strain of A. guerrae sp. nov. is AC 1271T (=CCUG 68674T=CCM 8791T).


Assuntos
Acinetobacter/classificação , Microbiologia de Alimentos , Carne/microbiologia , Filogenia , Acinetobacter/isolamento & purificação , Técnicas de Tipagem Bacteriana , Composição de Bases , DNA Bacteriano/genética , Ácidos Graxos/química , Genes Bacterianos , Tipagem de Sequências Multilocus , Hibridização de Ácido Nucleico , Portugal , RNA Ribossômico 16S/genética , Análise de Sequência de DNA
9.
J Clin Microbiol ; 57(12)2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31578263

RESUMO

Even though antibiotic resistance in bacteria is a natural phenomenon, the alarming increase in pathogenic bacteria refractory to a wide range of antimicrobials is attracting attention worldwide. Indeed, the World Health Organization (WHO) has recently published a list of priority pathogens for which new antimicrobial alternatives are urgently needed. Among these pathogens, methicillin-resistant Staphylococcus aureus (MRSA) strains are perhaps the best known by the general public. In addition to its potential to acquire antibiotic resistance, S. aureus can produce a large number of virulence factors, such as hemolysins, enterotoxins, and proteases, and exhibits the ability to form biofilms as well as to evolve into different clones that can spread and colonize new environments. This review provides a brief overview of the latest options in antibacterial therapies, mainly focusing on phage therapy. In this regard, the current stage of research about antimicrobial compounds based on bacteriophages and endolysins against MRSA infections is shown and discussed.


Assuntos
Infecção Hospitalar/epidemiologia , Infecção Hospitalar/terapia , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Terapia por Fagos/métodos , Infecções Estafilocócicas/epidemiologia , Infecções Estafilocócicas/terapia , Endopeptidases/uso terapêutico , Hospitais , Humanos , Staphylococcus aureus Resistente à Meticilina/virologia
10.
Ann Neurol ; 85(2): 204-217, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30597612

RESUMO

OBJECTIVE: Dysregulation of γ-aminobutyric acidergic (GABAergic) transmission has been reported in lesional acquired epilepsies (gliomas, hippocampal sclerosis). We investigated its involvement in a developmental disorder, human focal cortical dysplasia (FCD), focusing on chloride regulation driving GABAergic signals. METHODS: In vitro recordings of 47 human cortical acute slices from 11 pediatric patients who received operations for FCD were performed on multielectrode arrays. GABAergic receptors and chloride regulators were pharmacologically modulated. Immunostaining for chloride cotransporter KCC2 and interneurons were performed on recorded slices to correlate electrophysiology and expression patterns. RESULTS: FCD slices retain intrinsic epileptogenicity. Thirty-six of 47 slices displayed spontaneous interictal discharges, along with a pattern specific to the histological subtypes. Ictal discharges were induced in proepileptic conditions in 6 of 8 slices in the areas generating spontaneous interictal discharges, with a transition to seizure involving the emergence of preictal discharges. Interictal discharges were sustained by GABAergic signaling, as a GABAA receptor blocker stopped them in 2 of 3 slices. Blockade of NKCC1 Cl- cotransporters further controlled interictal discharges in 9 of 12 cases, revealing a Cl- dysregulation affecting actions of GABA. Immunohistochemistry highlighted decreased expression and changes in KCC2 subcellular localization and a decrease in the number of GAD67-positive interneurons in regions generating interictal discharges. INTERPRETATION: Altered chloride cotransporter expression and changes in interneuron density in FCD may lead to paradoxical depolarization of pyramidal cells. Spontaneous interictal discharges are consequently mediated by GABAergic signals, and targeting chloride regulation in neurons may be considered for the development of new antiepileptic drugs. Ann Neurol 2019; 1-14 ANN NEUROL 2019;85:204-217.


Assuntos
Córtex Cerebral/metabolismo , Epilepsias Parciais/metabolismo , Malformações do Desenvolvimento Cortical/metabolismo , Transmissão Sináptica/fisiologia , Ácido gama-Aminobutírico/metabolismo , Adolescente , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/fisiopatologia , Feminino , Humanos , Masculino , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/fisiopatologia
11.
Artigo em Inglês | MEDLINE | ID: mdl-30533787

RESUMO

Achromobacter sp. strain B7 (= CCUG 72081) was isolated from a diesel-polluted soil from the Valparaiso Region, Chile, subjected to bioremediation with a hydrocarbon-degrading enrichment. The complete genome sequence of Achromobacter sp. B7 has been determined to have a size of 6.24 Mb, 5,578 coding sequences, 57 tRNAs, and a G+C content of 64.8%.

12.
ACS Appl Mater Interfaces ; 10(31): 26195-26205, 2018 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-30001102

RESUMO

A new generation of porous polymer networks has been obtained in quantitative yield by reacting two rigid trifunctional aromatic monomers (1,3,5-triphenylbenzene and triptycene) with two ketones having electron-withdrawing groups (trifluoroacetophenone and isatin) in superacidic media. The resulting amorphous networks are microporous materials, with moderate Brunauer-Emmett-Teller surface areas (from 580 to 790 m2 g-1), and have high thermal stability. In particular, isatin yields networks with a very high narrow microporosity contribution, 82% for triptycene and 64% for 1,3,5-triphenylbenzene. The existence of favorable interactions between lactams and CO2 molecules has been stated. The materials show excellent CO2 uptakes (up to 207 mg g-1 at 0 °C/1 bar) and can be regenerated by vacuum, without heating. Under postcombustion conditions, their CO2/N2 selectivities are comparable to those of other organic porous networks. Because of the easily scalable synthetic method and their favorable characteristics, these materials are very promising as industrial adsorbents.

13.
Arch Dis Child Fetal Neonatal Ed ; 103(3): F233-F237, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-28667190

RESUMO

OBJECTIVES: Current neonatal resuscitation guidelines suggest the use of ECG in the delivery room (DR) to assess heart rate (HR). However, reliability of ECG compared with pulse oximetry (PO) in a situation of bradycardia has not been specifically investigated. The objective of the present study was to compare HR monitoring using ECG or PO in a situation of bradycardia (HR <100 beats per minute (bpm)) during preterm stabilisation in the DR. STUDY DESIGN: Video recordings of resuscitations of infants <32 weeks of gestation were reviewed. HR readings in a situation of bradycardia (<100 bpm) at any moment during stabilisation were registered with both devices every 5 s from birth. RESULTS: A total of 29 episodes of bradycardia registered by the ECG in 39 video recordings were included in the analysis (n=29). PO did not detect the start of these events in 20 cases (69%). PO detected the start and the end of bradycardia later than the ECG (median (IQR): 5 s (0-10) and 5 s (0-7.5), respectively). A decline in PO accuracy was observed as bradycardia progressed so that by the end of the episode PO offered significantly lower HR readings than ECG. CONCLUSIONS: PO detects the start and recovery of bradycardia events slower and less accurately than ECG during stabilisation at birth of very preterm infants. ECG use in this scenario may contribute to an earlier initiation of resuscitation manoeuvres and to avoid unnecessary prolongation of resuscitation efforts after recovery.


Assuntos
Bradicardia/diagnóstico , Eletrocardiografia/métodos , Oximetria/métodos , Frequência Cardíaca/fisiologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico , Monitorização Fisiológica/métodos , Valor Preditivo dos Testes , Estudos Prospectivos , Reprodutibilidade dos Testes , Ressuscitação/métodos , Sensibilidade e Especificidade
14.
FEM (Ed. impr.) ; 20(1): 23-28, ene.-feb. 2017. graf
Artigo em Espanhol | IBECS | ID: ibc-160366

RESUMO

Introducción: Desde el Departamento de Ciencias Biomédicas Básicas de la Universidad Europea de Madrid optamos por el diseño de actividades que fomenten un entorno de aprendizaje activo e integrador, centrado en el alumno y contextualizado en un entorno profesional. El objetivo es favorecer la asimilación de conceptos fundamentales, motivando al alumno y facilitando el aprendizaje extracurricular. Sujetos y métodos: Dentro de nuestras actividades de valor añadido hemos diseñado una dinámica a través del juego con estudiantes de los primeros cursos de los grados de Medicina, Farmacia y la doble titulación de Farmacia-Biotecnología. Utilizando como hilo conductor un caso clínico relacionado con una enfermedad cardiovascular, se diseñó una yincana con un carácter integrador de disciplinas básicas con diferentes estaciones de trabajo. Se premió la correcta resolución de las tareas incluidas en las estaciones de trabajo en un tiempo establecido. Resultados: Los estudiantes encuestados mostraron su satisfacción con la utilidad de estas sesiones integradas frente a las no integradas, así como con la inclusión de contenidos de diferentes materias (el 54% respondió favorablemente). El 58% de los grupos participantes afirmó que la actividad les acercó a contenidos nuevos. Conclusiones: Con esta actividad se ha aumentado el interés y la motivación de los alumnos por los conceptos más básicos de las ciencias biomédicas, a través de la integración real y la aplicación directa a un caso clínico auténtico. Asimismo, hemos conseguido que los alumnos trabajen competencias necesarias para asumir sus futuros roles como integrantes de equipos multidisciplinares, gracias a la participación de alumnos de grados distintos


Introduction: The Department of Basic Biomedical Sciences at the Universidad Europea de Madrid is committed to design activities that foster an environment of active and inclusive student-centered learning and contextualized in a professional environment. The aim is to ensure, through an integrated assimilation of fundamental concepts, the student motivation to learn and facilitate the extracurricular knowledge. Subjects and methods: Within our added-value activities, we have designed a play-based activity with students from the first course of the degrees of Medicine, Pharmacy and the double degree Pharmacy-Biotechnology. Using a clinical case related to a cardiovascular disease as a thread, a gymkhana was designed following a workstations working model. The correct resolution of all tasks included in each workstation without delay was finally rewarded. Results: Respondents found the integrated sessions more useful than the traditional seminars and also remarked that they bring up a variety of contents from different subjects successfully (54% positive answers). 58% of the survey participants expressed that the activity approached them new content not covered through the traditional master class. Conclusions: We have ensured that students develop skills required to take their future roles as members of multidisciplinary teams, thanks to the participation of students from different degrees. Moreover, the activity managed to increase motivation and the interest for the most basic concepts of Biomedical Sciences through real integration and direct application to a real clinical case. The experience was evaluated as very positive by all participants


Assuntos
Humanos , Aprendizagem , Ensino/métodos , Currículo , Jogos Recreativos , Ciências da Saúde/educação , Administração de Caso , Relações Interprofissionais
15.
Ann Allergy Asthma Immunol ; 115(5): 446-50, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26342971

RESUMO

BACKGROUND: Conventional diagnostic tests in allergy are insufficient to clarify the origin of vernal conjunctivitis (VC). OBJECTIVES: To evaluate IgE-mediated hypersensitivity by component-resolved diagnosis (CRD) in tears and serum from patients with VC and to evaluate how to treat patients with identified triggering allergens by specific immunotherapy. METHODS: Patients were divided into 3 groups: (1) patients with VC (25 patients), (2) patients allergic to grass pollen with seasonal allergic conjunctivitis (AC) (50 patients), and (3) healthy blood donors (50 patients). If triggering allergens were detected, specific conventional immunotherapy was administered for 1 year. RESULTS: Twenty-five patients with VC were evaluated. The identified triggering allergens were n Lol p 1 (11 patients), n Cyn d 1 (8 patients), group 4 and 6 grasses (6 patients), and group 5 grasses (5 patients). Prick test and pollen IgE test results were positive in one patient. Clinical improvement was observed in 13 of the 25 patients with VC after 1 year of specific immunotherapy. CONCLUSION: CRD seems to be a more sensitive diagnostic tool compared with prick test and IgE detection. Specific CRD-led immunotherapy may achieve clinical improvements in patients with VC.


Assuntos
Conjuntivite Alérgica/diagnóstico , Conjuntivite Alérgica/imunologia , Adulto , Antígenos de Plantas/imunologia , Estudos de Casos e Controles , Feminino , Humanos , Hipersensibilidade Imediata/imunologia , Imunoglobulina E/imunologia , Testes Imunológicos/métodos , Masculino , Poaceae/imunologia , Pólen/imunologia , Rinite Alérgica Sazonal/imunologia , Testes Cutâneos/métodos , Lágrimas/imunologia
16.
Fertil Steril ; 104(6): 1493-502.e1-2, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26364839

RESUMO

OBJECTIVE: To develop a novel molecular panel of markers to detect breast cancer (BC) disseminated malignant cells in ovarian tissue, and to improve the safety of ovarian tissue transplantation. DESIGN: Experimental study. SETTING: University hospital. PATIENT(S): Ten ovarian biopsies from healthy patients, 13 biopsies with diagnosed BC metastasis, and 4 biopsies from primary BC tumor for designing a diagnostic panel of BC cell contamination; 60 ovarian biopsies from BC patients undergoing fertility preservation for validating the panel. ANIMAL(S): Female nude mice. INTERVENTION(S): A novel panel for BC malignant cell detection by reverse-transcription polymerase chain reaction (RT-PCR), inmmunohistochemical analysis, in vitro invasion assay and xenotransplantation assayed in ovarian tissue from BC patients. MAIN OUTCOME MEASURE(S): Expression of GCDFP15, MGB1, SBEM, MUC1, WT-1, and NY-BR-01, selected as markers, assessed by quantitative RT-PCR in samples with confirmed BC metastasis. The most sensitive markers were confirmed by immunohistochemistry, and tested in vitro and in vivo. RESULT(S): GCDFP15, MGB1, and SBEM were the most sensitive and specific markers to detect BC metastatic cells when at least one was expressed by quantitative RT-PCR. The panel was validated in 60 patients and confirmed in an in vitro invasion assay, where no invasive cells were observed. Samples negative for BC cells cannot develop disease when xenografted. CONCLUSION(S): GCDFP15, MGB1, and SBEM were the most sensitive molecules to create a diagnostic panel for BC malignant cell contamination, which may make ovarian tissue cryopreservation and transplantation a safe technique for fertility preservation in BC patients.


Assuntos
Neoplasias da Mama/patologia , Criopreservação , Preservação da Fertilidade/métodos , Fertilidade , Infertilidade Feminina/terapia , Neoplasias Ovarianas/secundário , Ovário/patologia , Técnicas de Reprodução Assistida , Adulto , Idoso , Animais , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Biópsia , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Neoplasias da Mama/terapia , Proteínas de Transporte/genética , Proteínas de Transporte/metabolismo , Estudos de Casos e Controles , Feminino , Glicoproteínas/genética , Glicoproteínas/metabolismo , Xenoenxertos , Humanos , Imuno-Histoquímica , Infertilidade Feminina/etiologia , Infertilidade Feminina/fisiopatologia , Mamoglobina A/genética , Mamoglobina A/metabolismo , Proteínas de Membrana Transportadoras , Camundongos Nus , Pessoa de Meia-Idade , Mucinas/genética , Mucinas/metabolismo , Invasividade Neoplásica , Micrometástase de Neoplasia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/metabolismo , Ovário/metabolismo , Ovário/transplante , Valor Preditivo dos Testes , Gravidez , Reprodutibilidade dos Testes , Técnicas de Reprodução Assistida/efeitos adversos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de Risco
17.
Fertil Steril ; 104(5): 1286-93, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26354092

RESUMO

OBJECTIVE: To develop an expanded pan-ethnic preconception carrier genetic screening test for use in assisted reproductive technology (ART) patients and donors. DESIGN: Retrospective analysis of results obtained from 2,570 analyses. SETTING: Reproductive genetic laboratory. PATIENT(S): The 2,570 samples comprised 1,170 individuals from the gamete donor programs; 1,124 individuals corresponding to the partner of the patient receiving the donated gamete; and 276 individuals from 138 couples seeking ART using their own gametes. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Next-generation sequencing of 549 recessive and X-linked genes involved in severe childhood phenotypes reinforced with five complementary tests covering high prevalent mutations not detected by next-generation sequencing. RESULT(S): Preclinical validation included 48 DNA samples carrying known mutations for 27 genes, resulting in a sensitivity of 99%. In the clinical dataset, 2,161 samples (84%) tested positive, with an average carrier burden of 2.3 per sample. Five percent of the couples using their own gametes were found to have pathogenic variants conferring high risk for six different diseases. These high-risk couples and patients received genetic counseling and recommendations for preimplantation genetic diagnosis. For patients receiving gamete donation, we applied a genetic testing and blinded matching system to avoid high-risk combinations regardless of their carrier burden. For female donors, 1.94% were positive for X-linked conditions; they received genetic counselling and were discarded. CONCLUSION(S): We have developed a comprehensive carrier genetic screening test that, combined with our matching system and genetic counseling, constitutes a powerful tool to avoid more than 600 mendelian diseases in the offspring of patients undergoing ART.


Assuntos
Análise Mutacional de DNA , Triagem de Portadores Genéticos/métodos , Doenças Genéticas Ligadas ao Cromossomo X/genética , Testes Genéticos/métodos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Infertilidade/terapia , Cuidado Pré-Concepcional/métodos , Técnicas de Reprodução Assistida , Feminino , Aconselhamento Genético , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Predisposição Genética para Doença , Humanos , Infertilidade/diagnóstico , Infertilidade/genética , Masculino , Mutação , Fenótipo , Valor Preditivo dos Testes , Diagnóstico Pré-Implantação , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Risco
18.
PLoS One ; 10(5): e0127786, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26024525

RESUMO

INTRODUCTION: In vitro activation and growth of primordial dormant follicles to produce fertilizable oocytes would provide a useful instrument for fertility preservation. The employment of Phosphatase and TENsin homolog (PTEN) inhibitors, in combination with Protein kinase B (Akt) stimulating molecules, has been previously employed to increase follicular activation through the stimulation of the PTEN-Akt pathway. METHODS: We aim to establish improved in vitro activation also for cancer patients whose ovarian tissue has already been cryopreserved. Fresh and previously cryopreserved human ovarian cortex were exposed to short-term, low-concentration and ovary-specific treatment with only a PTEN inhibitor. RESULTS: Our in vitro activation protocol enhances the activation mechanisms of primordial follicles in both fresh and cryopreserved samples, and enlarges growing populations without inducing apoptosis in either follicles or the surrounding stroma. Treatment augments estradiol secretion and restores the expression levels of the previously diminished Anti-Müllerian hormone by means of cryopreservation procedures. Genomic modulation of the relative expression of PTEN pathway genes was found in treated samples. CONCLUSION: The in vitro activation protocol offers new alternatives for patients with cryopreserved tissue as it increases the pool of viable activated follicles available for in vitro growth procedures. The combination of ovarian tissue cryopreservation and in vitro activation of primordial follicles, the main ovarian reserve component, will be a major advancement in fertility preservation.


Assuntos
Hormônio Antimülleriano/biossíntese , Criopreservação , Inibidores Enzimáticos/farmacologia , Neoplasias , Preservação de Órgãos , Folículo Ovariano/metabolismo , PTEN Fosfo-Hidrolase/antagonistas & inibidores , Feminino , Humanos , PTEN Fosfo-Hidrolase/biossíntese , Sobrevivência de Tecidos
19.
Traffic Inj Prev ; 16(4): 345-52, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25133786

RESUMO

OBJECTIVE: The main purposes of this study were to examine the usefulness of the variables of the theory of planned behavior (viz. attitudes, social norms, and self-efficacy) and to explore the relationship between optimism bias and drink driving in young adults. In addition, we explored gender differences in drink driving with provision for the effect of variables such as driving frequency and alcohol consumption. METHODS: Data were collected via a questionnaire administered to 274 drivers (59.9% females) aged 18-30 years (24.36 ± 2.96). RESULTS: The results obtained with provision for driving frequency revealed substantial differences in driving behaviors between genders. Thus, males were more prone to drink driving, perceived less disapproval by their significant others (parents and peers), and felt less able to avoid drinking-and-driving situations. In addition, they self-reported more frequent alcohol consumption and driving under the influence. The results also confirm the significance of peers' subjective norms and attitudes to drink driving in males. Overconfidence in their own driving skills for driving drunk and perceived behavioral control were found to be significant predictors for drink driving in females. Optimism bias also played a slightly significant role in predicting drink driving but only in females. CONCLUSIONS: The important practical implications of these results with a view to designing effective interventions to prevent the risks associated with drink driving in the young population are discussed. Interventions should focus on young people's perceptions of group norms and promoting cautionary driving choices and alternatives to drink driving.


Assuntos
Consumo de Bebidas Alcoólicas/psicologia , Atitude , Condução de Veículo/psicologia , Autoeficácia , Normas Sociais , Adolescente , Adulto , Condução de Veículo/estatística & dados numéricos , Feminino , Humanos , Masculino , Grupo Associado , Teoria Psicológica , Risco , Fatores Sexuais , Inquéritos e Questionários , Adulto Jovem
20.
An. psicol ; 30(3): 1061-1068, oct. 2014. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-126146

RESUMO

La búsqueda de sensaciones es una de las variables de personalidad más estrechamente ligadas con la adopción de distintas conductas de riesgo, especialmente el consumo de alcohol y otras drogas. Además, la búsqueda de sensaciones influye en la valoración que los individuos realizan sobre los riesgos y sus posibles consecuencias. El objetivo de este estudio es analizar la relación entre la búsqueda de sensaciones y el consumo de alcohol en una muestra de 356 jóvenes con edades comprendidas entre los 18 y los 30 años. Además, hemos querido explorar el posible efecto mediador de las percepciones sesgadas de los individuos sobre los posibles riesgos y beneficios asociados al alcohol en la relación entre la personalidad y el abuso de alcohol. Los resultados obtenidos confirman la importancia de la búsqueda de sensaciones en la explicación del consumo abusivo de alcohol de los jóvenes y el papel mediador de las percepciones de riesgos y beneficios en la explicación de dicha relación. En la discusión del trabajo se analizan sus importantes implicaciones prácticas a la hora de diseñar intervenciones específicas dirigidas a prevenir los riesgos asociados al abuso de alcohol en jóvenes


Sensation seeking is one of personality variables more closely linked to the adoption of different risk behaviors, especially the use of alcohol and other drugs. In addition, sensation seeking influences valuation made by individuals about the risks and their possible consequences. The objective of this study is to analyze the relationship between sensation seeking and the consumption of alcohol in a sample of 356 young people aged between 18 and 25 years. In addition, we wanted to explore the possible effect mediator of biased perceptions of individuals about the potential risks and benefits associated with alcohol in the relationship between the personality and alcohol consumption. The results confirm the importance of sensation seeking in the explanation of the consumption of alcohol among young people and the mediating role of perceptions of risks and benefits in the explanation of the relationship. In the discussion of the work discussed their important practical implications when designing specific interventions aimed at preventing the risks associated with the consumption of alcohol in young people


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Sensação , Consumo de Bebidas Alcoólicas/psicologia , Assunção de Riscos , Motivação , Avaliação de Resultado de Ações Preventivas , Fatores de Risco
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