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One of the objectives of the Spanish Society of Arteriosclerosis is to contribute to better knowledge of vascular disease, its prevention and treatment. It is well known that cardiovascular diseases are the leading cause of death in our country and entail a high degree of disability and health care costs. Arteriosclerosis is a multifactorial disease and therefore its prevention requires a global approach that takes into account the different risk factors with which it is associated. Therefore, this document summarizes the current level of knowledge and includes recommendations and procedures to be followed in patients with established cardiovascular disease or at high vascular risk. Specifically, this document reviews the main symptoms and signs to be evaluated during the clinical visit, the laboratory and imaging procedures to be routinely requested or requested for those in special situations. It also includes vascular risk estimation, the diagnostic criteria of the different entities that are cardiovascular risk factors, and makes general and specific recommendations for the treatment of the different cardiovascular risk factors and their final objectives. Finally, the document includes aspects that are not usually referenced in the literature, such as the organization of a vascular risk consultation.
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Arteriosclerose , Doenças Cardiovasculares , Arteriosclerose/complicações , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/prevenção & controle , Fatores de Risco de Doenças Cardíacas , Humanos , Fatores de RiscoRESUMO
BACKGROUND: In recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field. Different multivariable models that use biomarkers have been proposed for the evaluation of individual risk of developing breast cancer. METHODS: This is a case control study based on a population-based cohort. We describe and evaluate a multivariable model that incorporates 92 Single-nucleotide polymorphisms (SNPs) (Supplementary Table S1) and five different phenotypic variables and which was employed in a Spanish population of 642 healthy women and 455 breast cancer patients. RESULTS: Our model allowed us to stratify two groups: high and low risk of developing breast cancer. The 9th decile included 1% of controls vs 9% of cases, with an odds ratio (OR) of 12.9 and a p-value of 3.43E-07. The first decile presented an inverse proportion: 1% of cases and 9% of controls, with an OR of 0.097 and a p-value of 1.86E-08. CONCLUSIONS: These results indicate the capacity of our multivariable model to stratify women according to their risk of developing breast cancer. The major limitation of our analysis is the small cohort size. However, despite the limitations, the results of our analysis provide proof of concept in a poorly studied population, and opens up the possibility of using this method in the routine screening of the Spanish population.
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Biomarcadores Tumorais/genética , Neoplasias da Mama/epidemiologia , Predisposição Genética para Doença , Fenótipo , Polimorfismo de Nucleotídeo Único , Medição de Risco/métodos , Adulto , Idoso , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Estudos de Casos e Controles , Feminino , Seguimentos , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Pessoa de Meia-Idade , Prognóstico , Espanha/epidemiologia , Adulto JovemRESUMO
While brain default mode network (DMN) activation in human subjects has been associated with mind wandering, meditation practice has been found to suppress it and to increase psychological well-being. In addition to DMN activity reduction, experienced meditators (EMs) during meditation practice show an increased connectivity between the DMN and the central executive network (CEN). However, the gradual change between DMN and CEN configuration from pre-meditation, during meditation, and post-meditation is unknown. Here, we investigated the change in DMN and CEN configuration by means of brain activity and functional connectivity (FC) analyses in EMs across three back-to-back functional magnetic resonance imaging (fMRI) scans: pre-meditation baseline (trait), meditation (state), and post-meditation (state-to-trait). Pre-meditation baseline group comparison was also performed between EMs and healthy controls (HCs). Meditation trait was characterized by a significant reduction in activity and FC within DMN and increased anticorrelations between DMN and CEN. Conversely, meditation state and meditation state-to-trait periods showed increased activity and FC within the DMN and between DMN and CEN. However, the latter anticorrelations were only present in EMs with limited practice. The interactions between networks during these states by means of positive diametric activity (PDA) of the fractional amplitude of low-frequency fluctuations (fALFFs) defined as [Formula: see text] revealed no trait differences but significant increases during meditation state that persisted in meditation state-to-trait. The gradual reconfiguration in DMN and CEN suggest a neural mechanism by which the CEN negatively regulates the DMN and is probably responsible for the long-term trait changes seen in meditators and reported psychological well-being.
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Atenção/fisiologia , Encéfalo/diagnóstico por imagem , Meditação , Atenção Plena , Rede Nervosa/diagnóstico por imagem , Adulto , Mapeamento Encefálico/métodos , Feminino , Neuroimagem Funcional , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-IdadeRESUMO
Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.
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Síndrome Linfoproliferativa Autoimune/diagnóstico , Proteínas Proto-Oncogênicas p21(ras) , Dermatopatias/etiologia , Pele/patologia , Síndrome Linfoproliferativa Autoimune/complicações , Síndrome Linfoproliferativa Autoimune/genética , Síndrome Linfoproliferativa Autoimune/patologia , Biópsia , Criança , Análise Mutacional de DNA , Diagnóstico Diferencial , Genes ras , Humanos , Leucemia Mielomonocítica Juvenil/diagnóstico , Masculino , Mutação , Proteínas Proto-Oncogênicas p21(ras)/genéticaRESUMO
Freezing, melting, evaporation and condensation of water are essential ingredients for climate and eventually life on Earth. In the present work, we show how surface freezing of supercooled water in an open container is conditioned and triggered-exclusively-by humidity in air. Additionally, a change of phase is demonstrated to be triggered on the water surface forming surface ice crystals prior to freezing of bulk. The symmetry of the surface crystal, as well as the freezing point, depend on humidity, presenting at least three different types of surface crystals. Humidity triggers surface freezing as soon as it overpasses a defined value for a given temperature, generating a plurality of nucleation nodes. An evidence of simultaneous nucleation of surface ice crystals is also provided.
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Gastrointestinal (GI) cancers are the most commonly occurring cancer worldwide. Colorectal cancer (CRC) is the second and third most commonly diagnosed cancer in women and men, respectively. Despite the advent of screening and the declining incidence of CRC overall, most patients are not diagnosed at an early, localized stage. Due to resistance to chemotherapy, recurrence, and metastatic disease, those diagnosed with advanced disease have only a 12% 5-year survival rate. Given the overwhelming global impact of CRC, the need for advanced therapy is crucial. Targeted immunotherapy in addition to surgical resection, traditional chemotherapy, and radiation therapy is on the rise. For the purpose of this review, we focused on the advances of immunotherapy, particularly in CRC, with mention of research pertaining to particular advances in immunotherapy for other aspects of the GI system. We review basic immunology and the microenvironment surrounding colorectal tumors that lead to immune system evasion and poor responses to chemotherapy. We also examined the way these obstacles are proving to be the targets of tumor specific immunotherapy. We will present current FDA approved immunotherapies such as monoclonal antibodies (mAb) targeting tumor specific antigens, as well as vaccines, adoptive cell therapy, cytokines, and check-point inhibitors. A summation of prior research, current clinical trials, and prospective therapies in murine models help delineate our current status and future strategies on CRC immunotherapy.
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Neoplasias Colorretais/imunologia , Neoplasias Colorretais/terapia , Imunoterapia/tendências , Animais , Neoplasias Colorretais/mortalidade , Terapia Combinada/métodos , Terapia Combinada/tendências , Modelos Animais de Doenças , Feminino , Neoplasias Gastrointestinais/imunologia , Neoplasias Gastrointestinais/terapia , Humanos , Imunoterapia/métodos , Masculino , CamundongosRESUMO
Sheehan's syndrome is described as panhypopituitarism secondary to a pituitary hypoperfusion during or just after obstetric hemorrhage. Advances in obstetric care make this syndrome quite unusual, but some cases are reported in underdeveloped countries. Clinical presentation may change depending on the severity of the hormone deficiencies. The diagnosis is clinical, but abnormalities are observed in the magnetic resonance in up to 70% of patients. We present a case of a woman with hypotension, hypothermia and edemas in relation to a previous massive postpartum hemorrhage. Failure in lactation was the clue to the diagnosis. A review of its main features, its diagnosis and treatment in the current literature is also presented.
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Hipopituitarismo/etiologia , Hemorragia Pós-Parto , Adulto , Feminino , Humanos , GravidezRESUMO
Rett syndrome is a severe and incapacitating neurological disease caused by a structural defect in the short arm of the X chromosome (Xq28). It affects females and consists of multiple and progressive neurological impairments that start from a young age, leading to lifelong disability and dependency. Scoliosis appears in more than 50% of patients and requires surgical correction in cases where the curvature is severe. Pre-anaesthetic assessment is essential in order to identify the risk factors and thus reduce the morbidity and mortality associated with the surgical procedure. We present the case of a patient affected by this syndrome and scoliosis, who was scheduled to have an instrumented thoracolumbar spine arthrodesis with general anaesthesia, which passed without incident. We evaluate the specific details of this syndrome, its potential complications, and its management from an anaesthetic point of view, emphasising the control of postoperative pain using a double epidural catheter with an infusion of local anaesthetics and fentanyl.
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Analgesia Epidural/instrumentação , Cateterismo/instrumentação , Dor Pós-Operatória/prevenção & controle , Síndrome de Rett/complicações , Escoliose/complicações , Escoliose/cirurgia , Adolescente , Desenho de Equipamento , Feminino , HumanosRESUMO
Although enteropathogenic Escherichia coli (EPEC) are well-recognized diarrheal agents, their ability to translocate and cause extraintestinal alterations is not known. We investigated whether a typical EPEC (tEPEC) and an atypical EPEC (aEPEC) strain translocate and cause microcirculation injury under conditions of intestinal bacterial overgrowth. Bacterial translocation (BT) was induced in female Wistar-EPM rats (200-250 g) by oroduodenal catheterization and inoculation of 10 mL 10(10) colony forming unit (CFU)/mL, with the bacteria being confined between the duodenum and ileum with ligatures. After 2 h, mesenteric lymph nodes (MLN), liver and spleen were cultured for translocated bacteria and BT-related microcirculation changes were monitored in mesenteric and abdominal organs by intravital microscopy and laser Doppler flow, respectively. tEPEC (N = 11) and aEPEC (N = 11) were recovered from MLN (100%), spleen (36.4 and 45.5%), and liver (45.5 and 72.7%) of the animals, respectively. Recovery of the positive control E. coli R-6 (N = 6) was 100% for all compartments. Bacteria were not recovered from extraintestinal sites of controls inoculated with non-pathogenic E. coli strains HB101 (N = 6) and HS (N = 10), or saline. Mesenteric microcirculation injuries were detected with both EPEC strains, but only aEPEC was similar to E. coli R-6 with regard to systemic tissue hypoperfusion. In conclusion, overgrowth of certain aEPEC strains may lead to BT and impairment of the microcirculation in systemic organs.
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Translocação Bacteriana/fisiologia , Escherichia coli Enteropatogênica/fisiologia , Infecções por Escherichia coli/microbiologia , Intestinos/microbiologia , Microcirculação , Animais , Criança , Feminino , Humanos , Fígado/microbiologia , Linfonodos/microbiologia , Mesentério/microbiologia , Ratos , Ratos Wistar , Baço/microbiologiaRESUMO
Although enteropathogenic Escherichia coli (EPEC) are well-recognized diarrheal agents, their ability to translocate and cause extraintestinal alterations is not known. We investigated whether a typical EPEC (tEPEC) and an atypical EPEC (aEPEC) strain translocate and cause microcirculation injury under conditions of intestinal bacterial overgrowth. Bacterial translocation (BT) was induced in female Wistar-EPM rats (200-250 g) by oroduodenal catheterization and inoculation of 10 mL 10(10) colony forming unit (CFU)/mL, with the bacteria being confined between the duodenum and ileum with ligatures. After 2 h, mesenteric lymph nodes (MLN), liver and spleen were cultured for translocated bacteria and BT-related microcirculation changes were monitored in mesenteric and abdominal organs by intravital microscopy and laser Doppler flow, respectively. tEPEC (N = 11) and aEPEC (N = 11) were recovered from MLN (100 percent), spleen (36.4 and 45.5 percent), and liver (45.5 and 72.7 percent) of the animals, respectively. Recovery of the positive control E. coli R-6 (N = 6) was 100 percent for all compartments. Bacteria were not recovered from extraintestinal sites of controls inoculated with non-pathogenic E. coli strains HB101 (N = 6) and HS (N = 10), or saline. Mesenteric microcirculation injuries were detected with both EPEC strains, but only aEPEC was similar to E. coli R-6 with regard to systemic tissue hypoperfusion. In conclusion, overgrowth of certain aEPEC strains may lead to BT and impairment of the microcirculation in systemic organs.
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Animais , Criança , Feminino , Humanos , Ratos , Translocação Bacteriana/fisiologia , Escherichia coli Enteropatogênica/fisiologia , Infecções por Escherichia coli/microbiologia , Intestinos/microbiologia , Microcirculação , Fígado/microbiologia , Linfonodos/microbiologia , Mesentério/microbiologia , Ratos Wistar , Baço/microbiologiaRESUMO
OBJECTIVES: This study was intended to assess the efficacy and safety of ezetimibe when taken alone or combined with statins in a specialized care setting and under standard clinical practice conditions. PATIENTS AND METHODS: A multicenter, retrospective study in patients with dyslipidemia seen in a specialized outpatient clinic and treated with ezetimibe for at least 12 weeks. Patients were divided into three groups: monotherapy, add-on ezetimibe, and initial coadministration. RESULTS: A total of 217 patients (mean age 59 years; 37% ≥65 years) were enrolled. Of these, 61% were women, 21% had type 2 diabetes and 20% had had a previous cardiovascular event so that the lipid lower drug treatment should satisfy the objectives of secondary prevention. Mean change in the monotherapy group (n = 92; mean 41 weeks) included: decrease of LDLc of 28% (P <.001). In the group where ezetimibe was added on to different ongoing statins (n = 94, mean 73 weeks), mean changes was as follows: LDLc -34%, significant change as compared to monotherapy (P < .001). In the group with initial coadministration of ezetimibe with different statins (n = 31; mean 118 weeks), mean change included: LDLc -53% (P < .001). Overall, 64% of patients reached the thereapeutic objective proposed for the Adult Treatment Panel III (ATPIII) for cLDL. In patients with low risk (LDLc < 160 mg/dL), moderate risk (LDLc < 130 mg/dL) and high-very high risk (LDLc < 100-70 mg/dL), the percentage of patients who reached the therapeutic objective was 81%, 64% and 44%, respectively. CONCLUSIONS: Under standard clinical practice conditions, ezetimibe appears to be effective and safe for the control LDLc, thus making it possible to reach the therapeutic objectives proposed by the ATP-III in a high number of patients, especially when associated to statins.
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Anticolesterolemiantes/uso terapêutico , Azetidinas/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticolesterolemiantes/efeitos adversos , Azetidinas/efeitos adversos , Quimioterapia Combinada , Ezetimiba , Feminino , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Adulto JovemRESUMO
Rhodococcus equi is an emerging opportunistic human pathogen associated with immunosuppressed people, especially those infected with the human immunodeficiency virus (HIV). This pathogen resides primarily within lung macrophages of infected patients, which may explain in part its ability to escape normal pulmonary defense mechanisms. Despite numerous studies as a pulmonary pathogen in foals, where a plasmid seems to play an important role in virulence, information on the pathogenesis of this pathogen in humans is still scarce. In this study, fluorescence microscopy and vancomycin protection assays were used to investigate the ability of R. equi human isolates to adhere to and to invade the human alveolar epithelial cell line A549. Our findings indicate that some R. equi clinical strains are capable of adhering, entering and surviving within the alveolar cell line, which may contribute to the pathogen persistence in lung tissues.
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Infecções por Actinomycetales/microbiologia , Células Epiteliais/microbiologia , Alvéolos Pulmonares/microbiologia , Rhodococcus equi/crescimento & desenvolvimento , Rhodococcus equi/patogenicidade , Aderência Bacteriana , Linhagem Celular , Humanos , Microscopia Confocal , Microscopia de Fluorescência , Alvéolos Pulmonares/citologia , Alvéolos Pulmonares/ultraestrutura , Rhodococcus equi/genética , Rhodococcus equi/isolamento & purificação , VirulênciaRESUMO
INTRODUCTION: Haemophagocytic syndrome (HPS) is a rare syndrome characterised by the uncontrolled activation and proliferation of histiocytes and T cells, leading to a cytokines overproduction. There are two forms of HPS: primary and secondary. OBJECTIVE: To analyse patients diagnosed with HPS at the Oncohaematology Department, using HLH-94 and 2004 protocol diagnostic criteria. MATERIALS AND METHODS: Retrospective study of clinical files of patients diagnosed with HPS, analysing the following features: diagnostic criteria, variability in clinical presentation, aetiology, treatment and outcome. RESULTS: Twenty-two patients were diagnosed with HPS: 6 familial haemophagocytic lymphohistiocytosis (FHL), 11 HPS with evidence of infection, 3 HPS associated with malignant disease and 2 macrophage activation syndrome (MAS) in patients with Crohn's disease and Juvenile Idiopathic Arthritis. The onset of FHL was within 1 year of age in 83.3%, except for 1 patient who was adolescent (MUNC13-4 mutations). SYMPTOMS: All patients (100%) had fever at diagnosis, 18 (85%) hepatosplenomegaly, 7 (31%) lymphadenopathy, 5 (21%) pallor, 3 (14%) rash and 3 (14%) neurological symptoms. LABORATORY ANALYSIS: all patients (100%) had cytopenias at diagnosis, 20 (90.9%) hypertriglyceridaemia, 19 (86%) hyperferritinaemia, 17 (77%) elevated serum liver enzymes, and 9 (40%) hypofibrinogenaemia. Decreased or absent NK-cell activity was detected in all patients (100%). Haemophagocytosis was found more frequently in bone marrow; however, liver or lymph node biopsies were required in two patients to demonstrate this. OUTCOME: Of the ten patients (6 FHL, 3 Epstein-Barr virus-associated HPS and 1 MAS) treated with HLH-94 and 2004 protocols, six received a stem-cell transplant; of these, 2 with FHL had a favourable outcome. The remaining 12 patients received aetiological/supportive therapy, with complete remission in 83.3%. CONCLUSIONS: The diagnosis of FHL should be made before the age of 2 years. Advances in genetic studies allow the detection of early and late forms of FHL. Immunochemotherapy and stem-cell transplantation constitute the treatment of FHL and aetiological/supportive therapy of acquired haemophagocytic lymphohistiocytosis, except in severe forms.
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Linfo-Histiocitose Hemofagocítica/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia , Masculino , Estudos RetrospectivosRESUMO
We performed experimental and ab initio studies on tetravinylsilane cation (TVS(+)) and its ionic and neutral fragmentation products. The aim of the study is the assignment of the products formed in electron impact ionization reaction of TVS. The experimental data were compared with ab initio data calculated at the MP2/cc-pVDZ level of theory. We found good agreement between the calculated reaction enthalpies and experimental appearance energies of the ions. More generally, our calculations reveal that there is a competition between intramolecular isomerization and fragmentation processes occurring after ionization of TVS, leading to the formation of a multitude of neutral and ionic species important for characterizing the silicon-carbon-containing plasma and media. New routes for the synthesis of bearing silicon molecules are suggested.
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Santiago Ramón y Cajal (1854-1934) had achieved a sound school of neurobiology displaying an integrative and anatomo-functional paradigm of study of the Nervous System by integrating diverse morphological, physiological, and clinical sciences during the Second Spanish Republic. Such school flourished in the three locations of the Cajal Institute in Madrid, but was nearly lost during the Spanish Civil War (1936-1939) with the repression of the majority of the collaborators of the recently-extinct master. One part of these mature and capable researchers was able to reach sanctuary in the Americas to continue their research and teaching enterprises. Thanks to the welcoming policy of Mexican president Lázaro Cárdenas several of them developed an extensive work at the National University of Mexico (UNAM) becoming pioneers, founders of research institutions, and venerable teachers of several medical and neurological sciences. Among them are neuropsychiatrist Dionisio Nieto, pathologist Isaac Costero, both pupils of Pío del Río Hortega; physiologist José Puche and pharmacologist Rafael Méndez, both collaborators of Juan Negrín. The work of Dionisio Nieto is especially worthy to remark as beneficiary of the Cajal School since, among many other achievements, he applied the techniques of Del Río Hortega to study the neuropathology of epilepsy and schizophrenia since the 1950's. Besides from his legacy to Mexican psychiatry, Nieto's pupils have extended his neuroanatomical and histological work, such as Alfonso Escobar, or his psycho physiological leads, such as Augusto Fernández-Guardiola. The latter was another Spanish War refugee who before is death in 2004 published a profound testimonial pertaining to the neurosciences of the Spanish exile in Mexico.
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Neuroanatomia , Neurociências , Pesquisadores , Universidades , História do Século XIX , História do Século XX , Humanos , México , Neuroanatomia/educação , Neuroanatomia/história , Neurociências/educação , Neurociências/história , Retratos como Assunto , EspanhaRESUMO
BACKGROUND: Psychological stress of parents of preterm infants is aggravated by prolonged hospitalisation. Early discharge programmes (EDPs) have been implemented to alleviate this situation. OBJECTIVE: To evaluate parental psychological stress in an EDP for the first 3 months after neonatal intensive care unit (NICU) discharge. DESIGN/METHODS: Prospective randomised trial comparing parents of preterm infants assigned to EDP (n = 72) or standard discharge programme (SDP) (standard discharge) (n = 68). At discharge, parents were evaluated using the Hospital Anxiety and Depression Scale (HAD), and the Likert Scale for well-being every 10 days for 3 months. Parental narrative of Worrying and Helping issues was assessed using a semi-structured interview. RESULTS: Length of stay was greater in the SDP group (p<0.01). HAD showed no differences in anxiety, but SDP mothers scored higher in depression (p<0.05). Altogether, parents reported a worrisome emotional condition (EDP 87.2%; SDP 80%), which decreased at the end of the study (EDP 45.2%; SDP 34.5%). Their baby's physical well-being was the most relevant issue in the narrative for Worrying and Helping issues at discharge (EDP 69.2%; SDP 67.5%); however, it decreased at the end of the study (EDP 22.6%; SDP 24.1%). At discharge, the paediatrician's support was more for the SDP group. No differences on the Well-Being Scale were found, but the EDP group always scored better. CONCLUSIONS: Vulnerability of parents enrolled in an EDP did not increase after hospital discharge. Physical well-being of the baby was the most important issue for both groups. EDP parents requested less paediatric support and scored higher in the Well-being verbatim.
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Recém-Nascido Prematuro , Tempo de Internação , Pais/psicologia , Alta do Paciente , Estresse Psicológico/psicologia , Adulto , Feminino , Seguimentos , Serviços de Assistência Domiciliar , Humanos , Bem-Estar do Lactente , Recém-Nascido , Terapia Intensiva Neonatal , Masculino , Relações Mãe-Filho , Gravidez , Estudos ProspectivosRESUMO
Flow volume loops are an essential part of spirometry testing. Their appearance can give information that can be helpful in the differential diagnosis of a patient's clinical condition. We present two clinical scenarios in which careful evaluation of the flow-volume loop gives an insight into the cause of the disease process.