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2.
J Microsc ; 291(1): 73-91, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36282005

RESUMO

The epidermal growth factor receptor (EGFR) is a poster child for the understanding of receptor behaviour, and of paramount importance to cell function and human health. Cloned almost forty years ago, the interest in EGFR's structure/function relationships remains unabated, not least because changes in oncogenic EGFR mutants are key drivers of the formation of lung and brain tumours. The structure of the assemblies formed by EGFR have been comprehensibly investigated by techniques such as high-resolution X-ray crystallography, NMR and all-atom molecular dynamics (MD) simulations. However, the complexity embedded in the portfolio of EGFR states that are only possible in the physiological environment of cells has often proved refractory to cell-free structural methods. Conversely, some key inroads made by quantitative fluorescence microscopy and super-resolution have depended on exploiting the wealth of structures available. Here, a brief personal perspective is provided on how quantitative fluorescence microscopy and super-resolution methods have cross-fertilised with cell-free-derived EGFR structural information. I primarily discuss areas in which my research group has made a contribution to fill gaps in EGFR's cellular structural biology and towards developing new tools to investigate macromolecular assemblies in cells.


Assuntos
Biologia , Receptores ErbB , Criança , Humanos , Microscopia de Fluorescência/métodos
3.
J Microsc ; 281(1): 3-15, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33111321

RESUMO

Octopus (Optics Clustered to OutPut Unique Solutions) celebrated in June 2020 its 10th birthday. Based at Harwell, near Oxford, Octopus is an open access, peer reviewed, national imaging facility that offers successful U.K. applicants supported access to single molecule imaging, confocal microscopy, several flavours of superresolution imaging, light sheet microscopy, optical trapping and cryoscanning electron microscopy. Managed by a multidisciplinary team, Octopus has so far assisted >100 groups of U.K. and international researchers. Cross-fertilisation across fields proved to be a strong propeller of success underpinned by combining access to top-end instrumentation with a strong programme of imaging hardware and software developments. How Octopus was born, and highlights of the multidisciplinary output produced during its 10-year journey are reviewed below, with the aim of celebrating a myriad of collaborations with the U.K. scientific community, and reflecting on their scientific and societal impact.

4.
Bol. pediatr ; 61(257): 166-173, 2021. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-220329

RESUMO

Introducción. En los últimos años, los servicios de urgencias hospitalarias han experimentado un aumento progresivo de la demanda asistencial, a expensas de patología banal. Esta tendencia cambia a partir del 14 de marzo, cuando se decreta el estado de alarma debido a la pandemia por COVID-19, lo que supone el confinamiento obligatorio poblacional. Objetivos. Determinar el impacto que este estado de alarma ha tenido en el volumen de las urgencias pediátricas de un hospital de tercer nivel. Material y métodos. Se ha realizado un estudio retrospectivo de cohortes y se han incluido los menores de 14 años que demandaron asistencia durante los meses del estado de alarma y durante los mismos meses en el año anterior. Se han analizado diferentes datos epidemiológicos y clínicos. Resultados. 3.371 pacientes acudieron a nuestro Servicio de Urgencias en 2019 y 650 lo hicieron en 2020, siendo la media de edad de los pacientes similar. Los grupos diagnósticos al alta más frecuentes en ambos periodos de tiempo fueron las patologías infecciosa y digestiva. En cuanto a los ingresos hospitalarios, en 2019 requirieron ingreso el 7,12%, y en 2020, el 13,69%. Respecto al servicio a cargo del paciente durante el ingreso, destaca que en 2020 el 27,72% lo hizo a cargo de Cirugía Pediátrica. Conclusiones. La actividad en las Urgencias Pediátricas de nuestro hospital ha variado notablemente durante el estado de alarma. Se ha producido una disminución considerable del número de pacientes que han demandado asistencia debido a la percepción de riesgo de contagio por parte de la población. Además, hemos percibido un aumento relativo de los ingresos hospitalarios y, en concreto, en la patología quirúrgica urgente con respecto al año anterior (AU)


Objectives. In recent years, hospital emergency departments have experienced a progressive increase in the demand for care, at the expense of trivial pathology. This trend changes from 14 March 2020, when the state of alarm was declared due to the COVID-19 pandemic, which led to the compulsory confinement of the population. The main objective of this study was to determine the impact that this state of alarm has had on the volume of paediatric emergencies in a third level hospital. Material and methods. A retrospective study of cohorts was carried out and included those under 14 years of age who demanded care during the months of the state of alarm and during the same months in the previous year. Different epidemiological and clinical data have been analysed. Results. 3,371 patients attended our Emergency Department in 2019, and 650 in 2020, with a similar average patient age. The most frequent diagnostic groups at discharge in both time periods were infectious and digestive diseases. In terms of hospital admissions, 7.12% required admission in 2019 and 13.69% in 2020. Regarding the department in charge of the patient during admission, in 2020 27.72% of patients were admitted by Paediatric Surgery. Conclusions. The activity in the paediatric emergency departments of our hospital varied considerably during the state of alarm. There has been a considerable decrease in the number of patients who have requested assistance due to the perceived risk of contagion by the population. In addition, we have perceived a relative increase in hospital admissions and, specifically, in urgent surgical pathology compared to the previous year (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Infecções por Coronavirus/epidemiologia , Pandemias , Serviço Hospitalar de Emergência/estatística & dados numéricos , Atenção Terciária à Saúde , Grupos Diagnósticos Relacionados/estatística & dados numéricos , Estudos Retrospectivos , Espanha , Índice de Gravidade de Doença
5.
Trials ; 21(1): 328, 2020 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-32293523

RESUMO

BACKGROUND: Chagas disease (CD) continues to be a neglected infectious disease with one of the largest burdens globally. Despite the modest cure rates in adult chronic patients and its safety profile, benznidazole (BNZ) is still the drug of choice. Its current recommended dose is based on nonrandomized studies, and efficacy and safety of the optimal dose of BNZ have been scarcely analyzed in clinical trials. METHODS/DESIGN: MULTIBENZ is a phase II, randomized, noninferiority, double-blind, multicenter international clinical trial. A total of 240 patients with Trypanosoma CD in the chronic phase will be recruited in four different countries (Argentina, Brazil, Colombia, and Spain). Patients will be randomized to receive BNZ 150 mg/day for 60 days, 400 mg/day for 15 days, or 300 mg/day for 60 days (comparator arm). The primary outcome is the efficacy of three different BNZ therapeutic schemes in terms of dose and duration. Efficacy will be assessed according to the proportion of patients with sustained parasitic load suppression in peripheral blood measured by polymerase chain reaction. The secondary outcomes are related to pharmacokinetics and drug tolerability. The follow-up will be 12 months from randomization to end of study participation. Recruitment was started in April 2018. CONCLUSION: This is a clinical trial conducted for the assessment of different dose schemes of BNZ compared with the standard treatment regimen for the treatment of CD in the chronic phase. MULTIBENZ may help to clarify which is the most adequate BNZ regimen in terms of efficacy and safety, predicated on sustained parasitic load suppression in peripheral blood. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03191162. Registered on 19 June 2017.


Assuntos
Doença de Chagas/tratamento farmacológico , Doenças Negligenciadas/parasitologia , Nitroimidazóis/uso terapêutico , Tripanossomicidas/uso terapêutico , Trypanosoma cruzi/isolamento & purificação , Adulto , Assistência ao Convalescente , Argentina/epidemiologia , Brasil/epidemiologia , Estudos de Casos e Controles , Doença de Chagas/parasitologia , Doença Crônica , Colômbia/epidemiologia , Método Duplo-Cego , Feminino , Humanos , Masculino , Nitroimidazóis/farmacocinética , Carga Parasitária/estatística & dados numéricos , Segurança , Espanha/epidemiologia , Resultado do Tratamento , Tripanossomicidas/farmacocinética , Trypanosoma cruzi/genética
6.
Proc Natl Acad Sci U S A ; 116(26): 12857-12862, 2019 06 25.
Artigo em Inglês | MEDLINE | ID: mdl-31182605

RESUMO

Plant plasma-membrane (PM) proteins are involved in several vital processes, such as detection of pathogens, solute transport, and cellular signaling. For these proteins to function effectively there needs to be structure within the PM allowing, for example, proteins in the same signaling cascade to be spatially organized. Here we demonstrate that several proteins with divergent functions are located in clusters of differing size in the membrane using subdiffraction-limited Airyscan confocal microscopy. Single particle tracking reveals that these proteins move at different rates within the membrane. Actin and microtubule cytoskeletons appear to significantly regulate the mobility of one of these proteins (the pathogen receptor FLS2) and we further demonstrate that the cell wall is critical for the regulation of cluster size by quantifying single particle dynamics of proteins with key roles in morphogenesis (PIN3) and pathogen perception (FLS2). We propose a model in which the cell wall and cytoskeleton are pivotal for regulation of protein cluster size and dynamics, thereby contributing to the formation and functionality of membrane nanodomains.


Assuntos
Parede Celular/metabolismo , Microdomínios da Membrana/metabolismo , Citoesqueleto de Actina/metabolismo , Citoesqueleto de Actina/ultraestrutura , Arabidopsis , Parede Celular/ultraestrutura , Microdomínios da Membrana/ultraestrutura , Microtúbulos/metabolismo , Microtúbulos/ultraestrutura , Imagem Individual de Molécula
7.
Transplant Proc ; 51(2): 334-336, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30879535

RESUMO

Patients with graft survival for 20 years or more are not uncommon; they are called ultralong kidney recipients. It is interesting to know if there are patterns in donors and recipients that could be reproduced. A retrospective cohort with 22 adult patients with a kidney renal transplant performed more than 25 years ago is analyzed. The mean of age of the donors was 24 years (median, 21 years); 82% were men and the cause of death was mainly acute traumatic brain injury. Recipients had a mean age of 34 years (median, 36 years) at the time of transplant; the most common underlying renal disease was glomerular, without evidence of recurrence. A total of 16 patients had compatibility in HLA II (1 in 11 cases; 2 in 5 cases). Only 6 patients have had any episode of acute rejection; 3 of them have developed antibodies class I, but no donor-specific antibodies. In this retrospective cohort, increases in donor age are associated with poor renal function. The mean creatinine is 1.43 mg/dL (range, 0.97-2.14 mg/dL) and mean proteinuria is 653.43 mg/g (range, 55-3722 mg/g). The characteristics common in ultralong kidney recipients are young male donors, a shortage of episodes of rejection, and good HLA compatibility, especially in class II antigens.


Assuntos
Sobrevivência de Enxerto/fisiologia , Histocompatibilidade , Transplante de Rim/métodos , Doadores de Tecidos , Adolescente , Adulto , Criança , Feminino , Rejeição de Enxerto/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
8.
Diabetes Metab ; 45(2): 122-131, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30266575

RESUMO

AIM: To study the effects of a functional food-based dietary intervention on faecal microbiota and biochemical parameters in patients with type 2 diabetes (T2D). MATERIALS AND METHODS: This placebo-controlled, randomized, double-blind study included 81 patients with T2D divided into two 3-month treatment groups: one following a reduced-energy diet with a dietary portfolio (DP) comprising high-fibre, polyphenol-rich and vegetable-protein functional foods; the other taking a placebo (P). The primary outcome was the effect of the DP on faecal microbiota. Secondary endpoints were biochemical parameters, lipopolysaccharide, branched-chain amino acids, trimethylamine N-oxide, glycosylated haemoglobin (HbA1c) and free fatty acids (FFAs). RESULTS: Patients with T2D exhibited intestinal dysbiosis characterized by an increase in Prevotella copri. Dietary intervention with functional foods significantly modified faecal microbiota compared with P by increasing alpha diversity and modifying the abundance of specific bacteria, independently of antidiabetic drugs. There was a decrease in P. copri and increases in Faecalibacterium prausnitzii and Akkermansia muciniphila, two bacterial species known to have anti-inflammatory effects. The DP group also exhibited significant reductions in areas under the curve for glucose, total and LDL cholesterol, FFAs, HbA1c (P< 0.05), triglycerides and CRP, and an increase in antioxidant activity (P< 0.01) vs. the P group. CONCLUSION: Long-term adherence to a high-fibre, polyphenol-enriched and vegetable-protein-based diet provides benefits for the composition of faecal microbiota, and may offer potential therapies for improvement of glycaemic control, dyslipidaemia and inflammation.


Assuntos
Complicações do Diabetes/prevenção & controle , Diabetes Mellitus Tipo 2/dietoterapia , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/microbiologia , Endotoxemia/prevenção & controle , Alimento Funcional , Microbiota/fisiologia , Adulto , Biomarcadores/análise , Biomarcadores/metabolismo , Complicações do Diabetes/metabolismo , Complicações do Diabetes/microbiologia , Diabetes Mellitus Tipo 2/complicações , Método Duplo-Cego , Endotoxemia/metabolismo , Fezes/microbiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto Jovem
9.
Ann Anat ; 220: 60-69, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30114449

RESUMO

BACKGROUND: The development and application of biomaterials to promote stem cell proliferation and differentiation has undergone major expansion over the last few years. Decellularized stem cell matrix (DSCMs) represent bioactive and biocompatible materials which achieve similar characteristics of native extracellular matrix. DSCMs have given promising outcomes in generating novel cell culture substrates mimicking specific niche microenvironments in tissue engineering. AIMS: This research aims at producing two different DSCMs obtained from adipose derived mesenchymal stem cells and bone marrow mesenchymal stem cells, characterize them and evaluate the DSCMs bioactivity on mesenchymal stem cells. METHODS: DSCMs were produced using ascorbic or chondrogenic medium, which were then used as a scaffold for adipose derived mesenchymal stem cells and bone marrow mesenchymal stem cells, respectively. The biological characteristics of both types of DSCMs, including cell attachment, morphology, proliferation, viability, and chondrogenic and osteogenic differentiation were evaluated and compared. RESULTS: Differences between ascorbic derived-DSCMs and chondrogenic derived DSCMs were found. Chondrogenic derived-DSCMs remained compact and stronger during extraction and this made their handling easier. Ascorbic derived-DSCMs showed a different protein composition to chondrogenic-DSCMs. Bioactive characteristics analyzed were different depending on the cellular origin of DSCM and the method used to produce them. CONCLUSIONS: The DSCMs obtained in this work constitutes favorable structure- and growth factors providing a microenvironment which is very similar to that of native ECM, which results in enhanced biological potential of the MSCs and responsiveness to the induction of differentiation. We found differences between ascorbic derived-DSCMs and chondrogenic derived DSCMs. Our results suggest that the cell source used to produce DSCMs is highly related to the bioactive characteristics of DSCMs.


Assuntos
Ácido Ascórbico/farmacologia , Materiais Biocompatíveis , Osso e Ossos/citologia , Matriz Extracelular/efeitos dos fármacos , Células-Tronco Mesenquimais/efeitos dos fármacos , Adipócitos/efeitos dos fármacos , Animais , Células da Medula Óssea , Adesão Celular/efeitos dos fármacos , Diferenciação Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Condrogênese , Cavalos , Osteogênese/efeitos dos fármacos , Alicerces Teciduais
10.
Rev Neurol ; 65(7): 289-294, 2017 Oct 01.
Artigo em Espanhol | MEDLINE | ID: mdl-28929470

RESUMO

INTRODUCTION: Sleep disorders are highly prevalent among the general population, although very few cases of sleep apnoea-hypopnoea syndrome (SAHS) have been reported in patients with narcolepsy. This study reviews the sleep disorders found in patients with narcolepsy, the prevalence of SAHS associated with these patients and their response to the different treatments. PATIENTS AND METHODS: We conducted an observation-based retrospective descriptive analysis of 25 patients diagnosed with narcolepsy, who were treated in our centre between October 2012 and December 2016. RESULTS: Of 470 patients evaluated in the specialised neurology consultation unit, 25 patients were diagnosed with narcolepsy (5.31%); 65% were males and the remaining 35% were females; the mean age at the time of diagnosis was 40 years. 60% presented other associated sleep disorders, the most frequent being SAHS (36%). The efficacy rate of treatment with continuous positive airway pressure (CPAP) is 66% in patients with SAHS with an indication of CPAP. CONCLUSIONS: Altogether, 60% of patients with narcolepsy have a second associated sleep disorder (greater than the incidence of coexistence in the general population, of 20-25% of patients), and those reported are also the most frequent among the general population (SAHS, restless legs syndrome, periodic limb movement disorder). 36% of patients with narcolepsy have SAHS as an associated condition. Of these, 78% have reached a suitable degree of control over respiratory events; 57% have achieved control with CPAP, and the remaining 43% did not require CPAP for event correction with other methods.


TITLE: Sindrome de apneas-hipopneas y narcolepsia. Descripcion de una serie hospitalaria.Introduccion. Los trastornos del sueño son muy prevalentes en la poblacion general; sin embargo, la asociacion de sindrome de apneas-hipopneas (SAHS) en pacientes con narcolepsia se ha descrito en pocas ocasiones. Se revisan los trastornos del sueño encontrados en pacientes con narcolepsia, la prevalencia de SAHS asociado a estos pacientes y su respuesta a los tratamientos. Pacientes y metodos. Analisis descriptivo retrospectivo observacional de 25 pacientes, con diagnostico de narcolepsia, atendidos en nuestro centro desde octubre de 2012 hasta diciembre de 2016. Resultados. De 470 pacientes valorados en la consulta monografica de neurologia, hemos diagnosticado a 25 pacientes con narcolepsia (5,31%); el 65% eran hombres, y el 35%, mujeres. Edad media en el momento del diagnostico: 40 años. El 60% presenta otros trastornos del sueño asociados, el mas frecuente es el SAHS (36%). La eficacia del tratamiento con presion aerea positiva continua nasal (CPAP) es del 66% en los pacientes con SAHS con indicacion de CPAP. Conclusiones. El 60% de los pacientes con narcolepsia asocia un segundo trastorno del sueño (mayor que la incidencia de coexistencia en la poblacion general, del 20-25% de los pacientes), y los descritos tambien son los mas frecuentes en la poblacion general (SAHS, sindrome de piernas inquietas, movimientos periodicos de las piernas). El 36% de los pacientes con narcolepsia asocia SAHS. De ellos, en el 78% se ha conseguido un control de eventos respiratorios adecuado; el 57% se ha controlado con CPAP y el 43% restante no ha precisado CPAP por correccion de eventos con otros metodos.


Assuntos
Narcolepsia/complicações , Apneia Obstrutiva do Sono/complicações , Adulto , Idoso , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Apneia Obstrutiva do Sono/terapia
11.
Arch Soc Esp Oftalmol ; 91(11): 539-542, 2016 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27125186

RESUMO

CASE REPORT: A 70-year-old woman who presented with an extranodal marginal zone B-cell lymphoma in lacrimal gland and conjunctiva. Initial treatment with rituximab yielded an immediate good response. Five months later she showed lymphoid proliferation in her contralateral conjunctiva. Although no additional treatment was performed, the patient has been free of systemic symptoms and recurrences. DISCUSSION: Rituximab is a quite good therapeutic agent in low grade adnexal lymphomas.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias da Túnica Conjuntiva/tratamento farmacológico , Doenças do Aparelho Lacrimal/tratamento farmacológico , Linfoma de Zona Marginal Tipo Células B/tratamento farmacológico , Rituximab/uso terapêutico , Idoso , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Feminino , Humanos , Doenças do Aparelho Lacrimal/diagnóstico por imagem , Linfoma de Zona Marginal Tipo Células B/diagnóstico por imagem , Imageamento por Ressonância Magnética , Indução de Remissão
12.
Cryobiology ; 71(2): 256-63, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26209137

RESUMO

Adipose-derived mesenchymal stromal cells are promising as a regenerative therapy tool for defective tissues in mesenchymal lineage, including fat, bone, cartilage, and blood vessels. In potential future clinical applications, adipose-derived stem cell cryopreservation is an essential fundamental technology. The aim of this study is to define an adequate protocol for the cryopreservation of adipose-derived mesenchymal stromal cells, by comparing various protocols so as to determine the effects of cryopreservation on viability and chondrogenic differentiation potential of adipose-derived stem cells upon freeze-thawing of AT-MSCs colonies cryopreserved with standard and modified protocols, using flow cytometry and confocal microscopy. The study concludes that adipose-derived mesenchymal stromal cells could be long-term cryopreserved without any loss of their proliferative or differentiation potential.


Assuntos
Tecido Adiposo/citologia , Condrogênese , Criopreservação/métodos , Células-Tronco Mesenquimais/citologia , Animais , Osso e Ossos/citologia , Cartilagem/citologia , Proliferação de Células , Sobrevivência Celular , Terapia Baseada em Transplante de Células e Tecidos/métodos , Células Cultivadas , Crioprotetores/farmacologia , Humanos , Masculino , Ratos , Ratos Wistar , Medicina Regenerativa
13.
Acta pediatr. esp ; 73(7): 199-207, jul. 2015. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-141904

RESUMO

Introducción: El síndrome de Jacobsen se debe a una deleción parcial del brazo largo del cromosoma 11. En un 85% de los casos, la deleción ocurre de novo. Los signos más comunes incluyen retraso en el crecimiento pre/posnatal, retraso psicomotor y malformaciones, así como una dismorfia facial característica. Con frecuencia, desde el nacimiento existe una función plaquetaria anormal, una trombocitopenia o una pancitopenia. Aproximadamente un 20% de los pacientes fallece durante los 2 primeros años de vida. Caso clínico: Recién nacida a término, sin antecedentes familiares de interés, que presenta un fenotipo peculiar (pabellones auriculares pequeños, de implantación baja, puente nasal ancho, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, boca «en carpa», microrretrognatia), fisura palatina, lesiones de aspecto petequial en tórax y muslo derecho, asociado a himen imperforado. Cariotipo 46,XX,del(11)(q14.1q23.3)dn, el estudio de ambos progenitores fue normal. Desde las 2 semanas de vida, la niña presentó una importante trombocitosis, con nula adquisición de los ítems madurativos. La paciente falleció a los 3 meses de vida, tras un accidente cerebrovascular hemorrágico espontáneo. Conclusiones: Las manifestaciones clínicas se relacionan con el tamaño de la deleción. Generalmente, el punto de rotura se localiza en 11q23.3. Entre las alteraciones hematológicas, la más frecuente es la trombopenia, aunque no fue así en esta paciente, que presentaba una trombocitosis. Esto parece deberse a que cuando la deleción afecta a la banda 11q24 se produce la pérdida del gen FLI-1, entre otros genes, que desempeñan un papel fundamental en la megacariopoyesis (AU)


Introduction: Jacobsen syndrome is due to partial deletion of the long arm of chromosome11. A de novo deletion occurs in 85% of cases. Most common signs include pre- and postnatal growth retardation, psychomotor delay, malformations and characteristic facial dysmorphism. Abnormal platelet function thrombocytopenia or pancytopenia are frequent from birth. Approximately, 20% of patients die during the first 2 years of life. Case report: Newborn female born at term, without any family history of congenital anomalies, presenting with peculiar phenotype (small and low-set ears, broad nasal bridge, hypertelorism, downslanting palpebral fissures, micro-retrognathia), carp-like mouth, cleft palate, petechial-like lesion in thorax and right thigh, associated to imperforate hymen. Karyotype 46,XX,del(11)(q14.1q23.3)dn, being normal for both her parents. Since the age of 2 weeks she had a marked thrombocytosis, with no acquisition of developmental milestones. The patient died at 3 months after a spontaneous hemorrhagic cerebral-vascular accident. Conclusions: Clinical manifestations of the syndrome are related to the size of the deletion. Generally, the breakpoint is located at 11q23.3. Among the hematological alterations the most frequent one is thrombopenia, unlike our patient, who had thrombocytosis. This seems to be due to the loss of FLI-1, among other genes with a key role in megakaryopoiesis, when the deletion affects the band 11q24 (AU)


Assuntos
Feminino , Humanos , Recém-Nascido , Síndrome da Deleção Distal 11q de Jacobsen/complicações , Trombocitose/etiologia , Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico , Trombocitose/diagnóstico , Anormalidades Congênitas/diagnóstico , Transtornos Psicomotores/diagnóstico
14.
J Appl Microbiol ; 119(2): 354-64, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25973855

RESUMO

AIM: Although feed medicated with antibiotics is widely used in animal production to prevent and treat bacterial infections, the effect of these drugs on nontarget anaerobic bacteria is unknown. We aimed to clarify whether a single exposure of sulphate-reducing bacteria (SRB) from a tilapia pond to oxytetracycline (OTC) concentrations relevant to aquaculture impacts their function, abundance and community structure. METHODS AND RESULTS: To demonstrate changes in SO4(2-) content, SRB abundance, dsrB copy number and SRB diversity, sediment mesocosms were spiked with 5, 25, 50 and 75 mg OTC kg(-1) and examined for 30 days by means of ion chromatography, qPCR, cultivation and fluorescent in situ hybridization (FISH). On day 3, we measured higher SO4(2-) concentrations (ca. two-fold) and a reduction in dsrB copy numbers of approximately 50% in the treatments compared to the controls. After 30 days, a subtle yet measurable enrichment of bacteria from the order Desulfovibrionales occurred in mesocosms receiving ≥ 50 mg OTC kg(-1), notwithstanding that SRB counts decreased two orders of magnitude. OTC was dynamically and reversibly converted into 4-epioxytetracycline and other related compounds in a dose-dependent manner during the experiment. CONCLUSIONS: A single exposure to rather high OTC concentrations triggered functional and structural changes in a SRB community that manifested quickly and persisted for a month. SIGNIFICANCE AND IMPACT OF THE STUDY: This study improves our limited knowledge on the ecotoxicology of antibiotics in anaerobic environments.


Assuntos
Antibacterianos/farmacologia , Bactérias/metabolismo , Biodiversidade , Água Doce/microbiologia , Sedimentos Geológicos/microbiologia , Oxitetraciclina/farmacologia , Sulfatos/metabolismo , Animais , Aquicultura , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Sedimentos Geológicos/química , Hibridização in Situ Fluorescente , Oxirredução
16.
J Microsc ; 252(1): 16-22, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23889125

RESUMO

The phenomenon of total internal reflection fluorescence (TIRF) was placed in the context of optical microscopy by Daniel Axelrod over three decades ago. TIRF microscopy exploits the properties of an evanescent electromagnetic field to optically section sample regions in the close vicinity of the substrate where the field is induced. The first applications in cell biology targeted investigation of phenomena at the basolateral plasma membrane. The most notable application of TIRF is single-molecule experiments, which can provide information on fluctuation distributions and rare events, yielding novel insights on the mechanisms governing the molecular interactions that underpin many fundamental processes within the cell. This short review intends to provide a 'one stop shop' explanation of the electromagnetic theory behind the remarkable properties of the evanescent field, guide the reader through the principles behind building or choosing your own TIRF system and consider how the most popular applications of the method exploit the evanescent field properties.


Assuntos
Técnicas Citológicas/métodos , Microscopia/métodos , Imagem Óptica/métodos
17.
Med Intensiva ; 37(4): 259-83, 2013 May.
Artigo em Espanhol | MEDLINE | ID: mdl-23507335

RESUMO

Since allogeneic blood transfusion (ABT) is not harmless, multiple alternatives to ABT (AABT) have emerged, though there is great variability in their indications and appropriate use. This variability results from the interaction of a number of factors, including the specialty of the physician, knowledge and preferences, the degree of anemia, transfusion policy, and AABT availability. Since AABTs are not harmless and may not meet cost-effectiveness criteria, such variability is unacceptable. The Spanish Societies of Anesthesiology (SEDAR), Hematology and Hemotherapy (SEHH), Hospital Pharmacy (SEFH), Critical Care Medicine (SEMICYUC), Thrombosis and Hemostasis (SETH) and Blood Transfusion (SETS) have developed a Consensus Document for the proper use of AABTs. A panel of experts convened by these 6 Societies have conducted a systematic review of the medical literature and have developed the 2013 Seville Consensus Document on Alternatives to Allogeneic Blood Transfusion, which only considers those AABT aimed at decreasing the transfusion of packed red cells. AABTs are defined as any pharmacological or non-pharmacological measure aimed at decreasing the transfusion of red blood cell concentrates, while preserving patient safety. For each AABT, the main question formulated, positively or negatively, is: « Does this particular AABT reduce the transfusion rate or not?¼ All the recommendations on the use of AABTs were formulated according to the Grades of Recommendation Assessment, Development and Evaluation (GRADE) methodology.


Assuntos
Transfusão de Sangue/normas , Terapias Complementares , Humanos , Segurança do Paciente , Procedimentos Cirúrgicos Operatórios
18.
Am J Med Genet A ; 161A(4): 732-6, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23495121

RESUMO

The Spanish Collaborative Study of Congenital Malformations (ECEMC, from the name in Spanish) has developed a very simple and highly specific coding system for structural chromosomal alterations. Such a coding system would be of value at present due to the dramatic increase in the diagnosis of submicroscopic chromosomal deletions and duplications through molecular techniques. In summary, our new coding system allows the characterization of: (a) the type of structural anomaly; (b) the chromosome affected; (c) if the alteration affects the short or/and the long arm, and (d) if it is a non-pure dicentric, a non-pure isochromosome, or if it affects several chromosomes. We show the distribution of 276 newborn patients with these types of chromosomal alterations using their corresponding codes according to our system. We consider that our approach may be useful not only for other registries, but also for laboratories performing these studies to store their results on case series. Therefore, the aim of this article is to describe this coding system and to offer the opportunity for this coding to be applied by others. Moreover, as this is a SYSTEM, rather than a fixed code, it can be implemented with the necessary modifications to include the specific objectives of each program.


Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Codificação Clínica/métodos , Informática Médica/métodos , Hibridização Genômica Comparativa , Estudos de Associação Genética , Humanos , Sistema de Registros
19.
Rev Esp Anestesiol Reanim ; 60(5): 263.e1-263.e25, 2013 May.
Artigo em Espanhol | MEDLINE | ID: mdl-23415109

RESUMO

Since allogeneic blood transfusion (ABT) is not harmless, multiple alternatives to ABT (AABT) have emerged, though there is great variability in their indications and appropriate use. This variability results from the interaction of a number of factors, including the specialty of the physician, knowledge and preferences, the degree of anemia, transfusion policy, and AABT availability. Since AABTs are not harmless and may not meet cost-effectiveness criteria, such variability is unacceptable. The Spanish Societies of Anesthesiology (SEDAR), Hematology and Hemotherapy (SEHH), Hospital Pharmacy (SEFH), Critical Care Medicine (SEMICYUC), Thrombosis and Hemostasis (SETH) and Blood Transfusion (SETS) have developed a Consensus Document for the proper use of AABTs. A panel of experts convened by these 6 Societies have conducted a systematic review of the medical literature and have developed the 2013 Seville Consensus Document on Alternatives to Allogeneic Blood Transfusion, which only considers those AABT aimed at decreasing the transfusion of packed red cells. AABTs are defined as any pharmacological or non-pharmacological measure aimed at decreasing the transfusion of red blood cell concentrates, while preserving patient safety. For each AABT, the main question formulated, positively or negatively, is: "Does this particular AABT reduce the transfusion rate or not?" All the recommendations on the use of AABTs were formulated according to the Grades of Recommendation Assessment, Development and Evaluation (GRADE) methodology.


Assuntos
Procedimentos Médicos e Cirúrgicos sem Sangue/normas , Humanos , Guias de Prática Clínica como Assunto
20.
An Pediatr (Barc) ; 78(2): 88-93, 2013 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-22727598

RESUMO

INTRODUCTION: Neurocognitive executive function in the paediatric diabetic population is a rarely studied field. To investigate and improve this aspect could help these patients to reach their full academic potential. This led us to study the impact that variables such as age at diagnosis and adequacy of metabolic control of diabetes may have on the executive cognitive functions of this population. PATIENTS AND METHODS: We studied 74 children: 37 with type 1 diabetes (group A) and 37 without diabetes (group B). Group A was divided into two subgroups, depending on age at diagnosis: early, before 5 years, (group A(1)) and late, after 5 years, (group A(2)). We compared group A and B and A(1) and A(2) groups using the test Neuropsychological assessment of executive functions in children (NAEFC). Diabetes metabolic control was performed by measuring HbA(1c) and capillary blood glucose before the test. Previous severe hypoglycaemic episodes were recorded. RESULTS: Differences were found among groups A and B in the test of interference. Among the A(1) and A(2) groups only differences in the scales of phonological fluency and grey trail trace were found. The scores were higher in both cases in the early diabetic group. We did not found any correlation between HbA(1c) and blood glucose with the different tests of ENFEN results. None of the patients had previous severe hypoglycaemic episodes. CONCLUSIONS: 1) Children with diabetes performed better in activities that require resistance to interference, sustained attention and attentional control. 2) Diabetic children with early diagnoses achieved high scores in phonological fluency tasks, and cognitive flexibility. 3) Response to ENFEN was not influenced by HbA(1c) and blood glucose levels before the test.


Assuntos
Diabetes Mellitus Tipo 1/fisiopatologia , Função Executiva , Glicemia/análise , Criança , Diabetes Mellitus Tipo 1/sangue , Feminino , Humanos , Masculino , Testes Neuropsicológicos
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