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Psychol Assess ; 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31368737


The Proposed Specifiers for Conduct Disorder (PSCD) scale (Salekin & Hare, 2016) was developed as a measure of the broader construct of psychopathy in childhood and adolescence. In addition to conduct disorder (CD) symptoms, the PSCD addresses the interpersonal (grandiose-manipulative), affective (callous-unemotional), and lifestyle (daring-impulsive) traits of psychopathic personality. The PSCD can be scored by parents and teachers. The present study is a preliminary test of the psychometric properties of the PSCD-Parent Version in a sample of 2,229 children aged 3 to 6 years. Confirmatory factor analyses supported both a 3- and 4-factor structure being invariant across gender groups. The validity of the PSCD was also supported by convergent-divergent associations with an alternative measure of psychopathic traits as well as by the expected relations with fearlessness, conduct problems, reactive and proactive aggression, attention-deficit hyperactivity disorder and oppositional defiant disorder symptoms, and social competence skills. Overall, the PSCD is a promising alternative measure for assessing early manifestation of the broader construct of psychopathy in children. Its use should facilitate discussion of the conceptualization, assessment, predictive value, and clinical usefulness of the psychopathic construct as it relates to CD at early developmental stages. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

J Virol ; 93(19)2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31315992


Human T cell leukemia virus type 1 (HTLV-1) is the ethological agent of adult T cell leukemia/lymphoma (ATLL) and a number of lymphocyte-mediated inflammatory conditions, including HTLV-1-associated myelopathy/tropical spastic paraparesis. HTLV-1 orf-I encodes two proteins, p8 and p12, whose functions in humans are to counteract innate and adaptive responses and to support viral transmission. However, the in vivo requirements for orf-I expression vary in different animal models. In macaques, the ablation of orf-I expression by mutation of its ATG initiation codon abolishes the infectivity of the molecular clone HTLV-1p12KO In rabbits, HTLV-1p12KO is infective and persists efficiently. We used humanized mouse models to assess the infectivity of both wild-type HTLV-1 (HTLV-1WT) and HTLV-1p12KO We found that NOD/SCID/γC -/- c-kit+ mice engrafted with human tissues 1 day after birth (designated NSG-1d mice) were highly susceptible to infection by HTLV-1WT, with a syndrome characterized by the rapid polyclonal proliferation and infiltration of CD4+ CD25+ T cells into vital organs, weight loss, and death. HTLV-1 clonality studies revealed the presence of multiple clones of low abundance, confirming the polyclonal expansion of HTLV-1-infected cells in vivo HTLV-1p12KO infection in a bone marrow-liver-thymus (BLT) mouse model prone to graft-versus-host disease occurred only following reversion of the orf-I initiation codon mutation within weeks after exposure and was associated with high levels of HTLV-1 DNA in blood and the expansion of CD4+ CD25+ T cells. Thus, the incomplete reconstitution of the human immune system in BLT mice may provide a window of opportunity for HTLV-1 replication and the selection of viral variants with greater fitness.IMPORTANCE Humanized mice constitute a useful model for studying the HTLV-1-associated polyclonal proliferation of CD4+ T cells and viral integration sites in the human genome. The rapid death of infected animals, however, appears to preclude the clonal selection typically observed in human ATLL, which normally develops in 2 to 5% of individuals infected with HTLV-1. Nevertheless, the expansion of multiple clones of low abundance in these humanized mice mirrors the early phase of HTLV-1 infection in humans, providing a useful model to investigate approaches to inhibit virus-induced CD4+ T cell proliferation.

Int J Offender Ther Comp Criminol ; 63(10): 1896-1913, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30973032


One of the main purposes of juvenile risk assessment is to distinguish different risk profiles, which may lead to referring youths into specific intervention programs tailored to their specific needs. This study is devoted to identifying main typologies of risk in a sample of 286 Spanish young offenders aged 14 to 22 (M = 17.36; SD = 1.61) years. Participants were classified into different profiles, representing different levels of risk in terms of individual and psychosocial dynamic variables. A three-class (low-, middle-, and high-risk profiles) and a four-class (low-, middle-, high-risk family problems/callous-unemotional (CU) traits, and high-risk impulsive/undercontrolled) solutions were identified. These profiles showed their distinctiveness and meaningfulness in a set of comparisons on antisocial behavior and prior offenses measures. These findings highlight the presence of diverse patterns of risk and suggest that a limited number of specialized interventions may respond to the main needs of most institutionalized youths.

Assessment ; : 1073191119832654, 2019 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-30845808


This is the first study that tested the psychometric properties of the Child Problematic Traits Inventory (CPTI) in clinic-referred children (ages 6-13 years). Teachers ( N = 159) and parents ( N = 173) completed the CPTI and various other measures. Confirmatory factor analyses supported the CPTI's three-factor structure when teachers and parents rated the 28 CPTI items. Teacher- and parent-reported CPTI scores showed the expected relations with external correlates (e.g., conduct problems and proactive aggression). Crucially, the validity of the CPTI scores was also supported across informants (i.e., when linking teacher-reported CPTI scores to parent-reported external correlates, and vice versa) and across methods (i.e., regardless if a questionnaire or a diagnostic interview was used to measure external correlates). We conclude that the CPTI holds promise as a research tool for assessing psychopathic traits in clinic-referred children. Until our findings have been replicated and extended, the CPTI should not be used for clinical decision making.

Int J Med Inform ; 125: 47-54, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30914180


BACKGROUND: Despite the promising benefits of the e-Health approaches (including provide technology-based healthcare services to anyone, anytime, and anywhere), few solutions are adopted in daily practice. User acceptance is one of the major obstacles that hinder the success of technology approaches. End-users often stress misalignments among their problems and the solutions that technology systems aim to solve. In other cases, systems developed are unfriendly or unadjusted to the daily practice of clinicians or patient's life. To maximize user acceptance, the relevance of adopting user-centred design and development techniques is well-known. However, users are often assumed to be a homogeneous group with the same set of requirements, what leads to an ineffective identification and addressment of user requirements. Furthermore, usability and accessibility issues must be carefully addressed to guarantee also the right alignment of solutions with user needs. OBJECTIVE: to develop an e-Health system for renal patients at home by adopting user-centred design practices, usability and accessibility standards. MATERIAL AND METHODS: users were categorized in four different groups (i.e., digital patients/caregivers, non-digital patients/caregivers, clinicians and nurses) and a sample was included in the design and development team. Questionnaires and interviews were used to identify user requirements and assess prototypes. RESULTS: Requirements were considered for every kind of user, what resulted on a multi-faceted e-Health system implying different technologies and functionalities regarding to each target user. CONCLUSION: Identification and continuous involvement of all kind of users allow their needs to be properly understood and addressed by technology, raising user acceptance of the final product.

Nefropatias/terapia , Telemedicina/organização & administração , Interface Usuário-Computador , Cuidadores , Humanos , Espanha , Inquéritos e Questionários
Exp Dermatol ; 28(3): 225-232, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30609079


Perforin-2 (P-2) is a recently described antimicrobial protein with unique properties to kill intracellular bacteria. We investigated P-2 expression pattern and cellular distribution in human skin and its importance in restoration of barrier function during wound healing process and infection with the common wound pathogen Staphylococcus aureus. We describe a novel approach for the measurement of P-2 mRNA within individual skin cells using an amplified fluorescence in situ hybridization (FISH) technique. The unique aspect of this approach is simultaneous detection of P-2 mRNA in combination with immune-phenotyping for cell surface proteins using fluorochrome-conjugated antibodies. We detected P-2 transcript in both hematopoietic (CD45+ ) and non-hematopoietic (CD45- ) cutaneous cell populations, confirming the P-2 expression in both professional and non-professional phagocytes. Furthermore, we found an induction of P-2 during wound healing. P-2 overexpression resulted in a reduction of intracellular S. aureus, while infection of human wounds by this pathogen resulted in P-2 suppression, revealing a novel mechanism by which S. aureus may escape cutaneous immunity to cause persistent wound infections.

Clin Infect Dis ; 69(7): 1192-1197, 2019 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-30561555


BACKGROUND: The relationship between community-acquired respiratory viruses (CARVs) and chronic lung allograft dysfunction (CLAD) in lung transplant recipients is still controversial. METHODS: We performed a prospective cohort study (2009-2014) in all consecutive adult patients (≥18 years) undergoing lung transplantation in the Hospital Universitari Vall d'Hebron (Barcelona, Spain). We systematically collected nasopharyngeal swabs from asymptomatic patients during seasonal changes, from patients with upper respiratory tract infectious disease, lower respiratory tract infectious disease (LRTID), or acute rejection. Nasopharyngeal swabs were analyzed by multiplex polymerase chain reaction. Primary outcome was to evaluate the potential association of CARVs and development of CLAD. Time-dependent Cox regression models were performed to identify the independent risk factors for CLAD. RESULTS: Overall, 98 patients (67 bilateral lung transplant recipients; 63.3% male; mean age, 49.9 years) were included. Mean postoperative follow-up was 3.4 years (interquartile range [IQR], 2.5-4.0 years). Thirty-eight lung transplant recipients (38.8%) developed CLAD, in a median time of 20.4 months (IQR, 12-30.4 months). In time-controlled multivariate analysis, CARV-LRTID (hazard ratio [HR], 3.00 [95% confidence interval {CI}, 1.52-5.91]; P = .002), acute rejection (HR, 2.97 [95% CI, 1.51-5.83]; P = .002), and cytomegalovirus pneumonitis (HR, 3.76 [95% CI, 1.23-11.49]; P = .02) were independent risk factors associated with developing CLAD. CONCLUSIONS: Lung transplant recipients with CARVs in the lower respiratory tract are at increased risk to develop CLAD.

Rev. gerenc. políticas salud ; 17(35): 211-221, jul.-dic. 2018. graf
Artigo em Espanhol | LILACS-Express | ID: biblio-1014159


Resumen El tiempo total de atención prehospitalaria (APH) es el tiempo que transcurre desde que ingresa la llamada al operador hasta que la ambulancia queda disponible para atender otra emergencia. Esta investigación pretende demostrar que la selección del hospital destino afecta de manera significativa el tiempo total de APH, lo que influye en la supervivencia del paciente que es trasladado y en el tiempo de liberación del recurso (ambulancias). En consecuencia, se propone una técnica de selección de hospital destino que incluye dimensiones relacionadas con el paciente (diagnóstico, especialidad y asegurador) y el hospital (ocupación y cercanía). Se evalúa su desempeño por medio de una simulación de eventos discretos y se concluye que la técnica propuesta obtiene un mejor tiempo de APH en el 73% de los casos estudiados, con una reducción media entre 40 y 80 minutos, en comparación con la técnica más comúnmente usada (selección hospital más cercano).

Abstract Total time of prehospital care (PHC) is the time elapsing from the inbound call up to the moment when the ambulance is available for serve in another emergency event. This research aims to show that selecting the destination hospital impacts significantly the total PHC time, which influences the survival of the patient being transported as well as the time to make the resource available again (the ambulance). Consequently, a technique for selecting the destination hospital is proposed herein including some dimensions related both to the patient (diagnosis, specialty and insurance company) and to the hospital (occupancy and closeness). The performance was evaluated based on a simulation of discrete events. It is concluded that the proposed technique provides a better PHC time in 73% of the studied cases, with a mean decrease between 40 and 80 minutes as compared to the most commonly used technique (selecting the closest hospital).

Resumo O tempo total de atendimento pré-hospitalar (APH) é o tempo decorrente desde que a ligação for feita para o telefonista até a ambulância se disponibilizar para atender outra emergência. Esta pesquisa visa demostrar que a escolha do hospital alvo afeta significativamente o tempo total de APH, o que influi na sobrevida do paciente trasladado e no tempo de liberação do recurso (ambulâncias). Consequentemente, propõe-se uma técnica de escolha de hospital alvo que inclui dimensões relacionadas com paciente (diagnóstico, especialidade e assegurador) e hospital (ocupação e proximidade). Avalia-se o desempenho por meio de simulação de eventos discretos e conclui-se que a técnica proposta obtém melhor tempo de APH em 73% dos casos estudados com redução media entre 40 e 80 minutos, em comparação com a técnica mais comumente usada (escolha hospital mais próximo).

Nefrología (Madrid) ; 38(6): 587-595, nov.-dic. 2018. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-178388


Antecedentes y objetivo: El Kidney Donor Profile Index (KDPI), junto a otras variables del donante y receptor, puede optimizar el proceso de asignación de órganos. Este estudio tiene como objetivo comprobar la aplicabilidad del KDPI en una población española, así como su capacidad de predicción de la supervivencia del injerto y del paciente. Materiales y métodos: Se estudiaron 2.734 trasplantes renales llevados a cabo en Andalucía entre enero de 2006 y diciembre de 2015. Los casos se agruparon por edad del receptor y cuartil del KDPI y se compararon entre grupos tanto la supervivencia del injerto como la del paciente. Resultados: El KDPI discrimina con precisión los órganos óptimos de los subóptimos o marginales. Para receptores entre 18 y 59 años presenta un hazard ratio de 1,013 (p < 0,001) para supervivencia de injerto censurada para muerte y de 1,013 (p = 0,007) para supervivencia del paciente. Para receptores mayores de 60años el hazard ratio es de 1,016 (p = 0,001) para supervivencia del injerto censurada para muerte y de 1,011 (p = 0,007) para supervivencia del paciente. Un análisis multivariante identificó como factores predictivos de la supervivencia del injerto el KDPI, la edad del donante, la donación tras muerte circulatoria, la edad y el sexo del receptor. Conclusiones: El KDPI permite relacionar, a grandes rasgos, las características del donante con la mayor o menor supervivencia del injerto y del paciente en la población española. No obstante, debido a ciertas limitaciones, convendría elaborar un índice propio a partir de los datos españoles o europeos. En este trabajo se identifican algunos factores predictivos de la supervivencia del injerto que pueden servir como primer paso en esa línea

Background and objective: The Kidney Donor Profile Index (KDPI), together with other donor and recipient variables, can optimise the organ allocation process. This study aims to check the feasibility of the KDPI for a Spanish population and its predictive ability of graft and patient survival. Materials and methods: Data from 2,734 kidney transplants carried out in Andalusia between January 2006 and December 2015 were studied. Cases were grouped by recipient age, categorised by KDPI quartile and both graft and patient survival were compared among groups. Results: The KDPI accurately discriminated optimal organs from suboptimal or marginal ones. For adult recipients (aged: 18-59 years) it presents a hazard ratio of 1.013 (P < .001) for death-censored graft survival and of 1.013 (P = .007) for patient survival. For elderly recipients (aged: 60+ years), KDPI presented a hazard ratio of 1.016 (P = .001) for death-censored graft survival and of 1.011 (P = .007) for patient survival. A multivariate analysis identified the KDPI, donor age, donation after circulatory death, recipient age and gender as predictive factors of graft survival. Conclusions: The results obtained show that the KDPI makes it possible to relate the donor's characteristics with the greater or lesser survival of the graft and the patient in the Spanish population. However, due to certain limitations, a new index for Spain based on Spanish or European data should be created. In this study, some predictive factors of graft survival are identified that may serve as a first step in this path

Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Falência Renal Crônica/cirurgia , Sobrevivência de Enxerto , Doadores de Tecidos , Transplante de Rim , Valor Preditivo dos Testes , Estudos Retrospectivos , Análise Multivariada , Prognóstico
Nucleic Acids Res ; 2018 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-30395280


RegulonDB, first published 20 years ago, is a comprehensive electronic resource about regulation of transcription initiation of Escherichia coli K-12 with decades of knowledge from classic molecular biology experiments, and recently also from high-throughput genomic methodologies. We curated the literature to keep RegulonDB up to date, and initiated curation of ChIP and gSELEX experiments. We estimate that current knowledge describes between 10% and 30% of the expected total number of transcription factor- gene regulatory interactions in E. coli. RegulonDB provides datasets for interactions for which there is no evidence that they affect expression, as well as expression datasets. We developed a proof of concept pipeline to merge binding and expression evidence to identify regulatory interactions. These datasets can be visualized in the RegulonDB JBrowse. We developed the Microbial Conditions Ontology with a controlled vocabulary for the minimal properties to reproduce an experiment, which contributes to integrate data from high throughput and classic literature. At a higher level of integration, we report Genetic Sensory-Response Units for 200 transcription factors, including their regulation at the metabolic level, and include summaries for 70 of them. Finally, we summarize our research with Natural language processing strategies to enhance our biocuration work.

Exp Dermatol ; 27(12): 1408-1411, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30307058


Seborrhoeic Dermatitis (SD) is a common inflammatory skin disorder, but its molecular pathogenesis remains elusive. Previously, we have established the Mpzl3 knockout (-/-) mice as a model for SD. In this study, we focused on early phases of skin inflammation and determined the cytokine profiles and identified immune cell types in the lesional skin in the Mpzl3 -/- mice. Using flow cytometry, we detected a significant increase of CD45+ leucocytes, CD3+ T lymphocytes and especially γδ T cells but not αß T cells in the lesional skin compared to control. We also detected high levels of IL-17 and determined that the γδ T cells were a major contributing source. CD3+ and γδ T cell localization in the skin was verified by indirect immunofluorescent staining. Since neither γδ T cells nor IL-17 had been implicated in SD, our study provides novel insights into the role of MPZL3 in the pathogenesis of SD-like skin inflammation.

Nefrologia ; 38(6): 587-595, 2018 Nov - Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30243494


BACKGROUND AND OBJECTIVE: The Kidney Donor Profile Index (KDPI), together with other donor and recipient variables, can optimise the organ allocation process. This study aims to check the feasibility of the KDPI for a Spanish population and its predictive ability of graft and patient survival. MATERIALS AND METHODS: Data from 2,734 kidney transplants carried out in Andalusia between January 2006 and December 2015 were studied. Cases were grouped by recipient age, categorised by KDPI quartile and both graft and patient survival were compared among groups. RESULTS: The KDPI accurately discriminated optimal organs from suboptimal or marginal ones. For adult recipients (aged: 18-59years) it presents a hazard ratio of 1.013 (P<.001) for death-censored graft survival and of 1.013 (P=.007) for patient survival. For elderly recipients (aged: 60+years), KDPI presented a hazard ratio of 1.016 (P=.001) for death-censored graft survival and of 1.011 (P=.007) for patient survival. A multivariate analysis identified the KDPI, donor age, donation after circulatory death, recipient age and gender as predictive factors of graft survival. CONCLUSIONS: The results obtained show that the KDPI makes it possible to relate the donor's characteristics with the greater or lesser survival of the graft and the patient in the Spanish population. However, due to certain limitations, a new index for Spain based on Spanish or European data should be created. In this study, some predictive factors of graft survival are identified that may serve as a first step in this path.

Dermatol Online J ; 24(5)2018 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-30142736


Severe bullous eruptions in systemic lupus erythematosus (SLE) patients include bullous SLE, Rowell syndrome, toxic epidermal necrolysis (TEN), and TEN-like eruption of acute cutaneous lupus (TEN-like ACLE). TEN-like ACLE, a rare manifestation of SLE that closely mimics TEN, can be distinguished by characteristic clinical and laboratory findings. A 27-year-old man with SLE who developed TEN-like ACLE after initiating mycophenolate mofetil for active SLE is reported. The reports of 37 women and six men  including our patient with TEN-like ACLE were also reviewed. The diagnosis of SLE or subacute cutaneous lupus erythematosus was either previously confirmed or established at the time of diagnosis of TEN-like ACLE in 41 patients. Fever was present in 59% of patients. The onset of TEN-like ACLE was either subacute (73%) or acute (27%). Thirteen cases did not clarify the nature of disease onset. The skin lesions often presented initially on sun-exposed sites (29 patients) and involved one or more mucous membranes (21 patients). A new medication may have caused the TEN-like ACLE in 67% of the patients. Systemic corticosteroids either alone or combined with hydroxychloroquine, intravenous immunoglobulin, or mycophenolate mofetil were the most commonly used treatment. Patients with TEN-like ACLE patients had an 89% survival.

Front Physiol ; 9: 702, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29962957


Heart failure (HF) is a complex syndrome characterized by cardiac dysfunction, Ca2+ mishandling, and chronic activation of the innate immune system. Reduced cardiac output in HF leads to compensatory mechanisms via activation of the adrenergic nervous system. In turn, chronic adrenergic overstimulation induces pro-arrhythmic events, increasing the rate of sudden death in failing patients. Nucleotide-binding oligomerization domain-containing protein 1 (NOD1) is an innate immune modulator that plays a key role in HF progression. NOD1 deficiency in mice prevents Ca2+ mishandling in HF under basal conditions, but its role during ß-adrenergic stimulation remains unknown. Here, we evaluated whether NOD1 regulates the ß-adrenergic modulation of Ca2+ signaling in HF. Ca2+ dynamics were examined before and after isoproterenol perfusion in cardiomyocytes isolated from healthy and from post-myocardial infarction (PMI) wild-type (WT) and Nod1-/- mice. Isoproterenol administration induced similar effects on intracellular [Ca2+]i transients, cell contraction, and sarcoplasmic reticulum (SR)-Ca2+ load in healthy WT and Nod1-/- cells. However, compared with WT-PMI cells, isoproterenol exposure induced a significant increase in the [Ca2+]i transients and cell contraction parameters in Nod1-/--PMI cells, which mainly due to an increase in SR-Ca2+ load. NOD1 deficiency also prevented the increase in diastolic Ca2+ leak (Ca2+ waves) induced by isoproterenol in PMI cells. mRNA levels of ß1 and ß2 adrenergic receptors were significantly higher in Nod1-/--PMI hearts vs WT-PMI hearts. Healthy cardiomyocytes pre-treated with the selective agonist of NOD1, iE-DAP, and perfused with isoproterenol showed diminished [Ca2+]i transients amplitude, cell contraction, and SR-Ca2+ load compared with vehicle-treated cells. iE-DAP-treated cells also presented increased diastolic Ca2+ leak under ß-adrenergic stimulation. The selectivity of iE-DAP on Ca2+ handling was validated by pre-treatment with the inactive analog of NOD1, iE-Lys. Overall, our data establish that NOD1 deficiency improves the ß-adrenergic modulation of Ca2+ handling in failing hearts.

Arch. bronconeumol. (Ed. impr.) ; 54(6): 313-319, jun. 2018. graf, tab
Artigo em Inglês | IBECS | ID: ibc-176163


Introducción: La enfermedad pulmonar es la principal causa de mortalidad en el 80% de los pacientes con fibrosis quística (FQ). La influencia de la circulación extracorpórea (CEC) no está completamente establecida. Los objetivos son evaluar los resultados del trasplante pulmonar por FQ en un solo centro y la influencia de la CEC sobre la supervivencia de estos pacientes. Métodos: Estudio observacional retrospectivo de todos los pacientes afectados de FQ trasplantados en un solo centro entre 1992 y 2011. En este período se han realizado 64 trasplantes pulmonares por FQ. Resultados: La supervivencia de los pacientes trasplantados a los 5 y 10 años fue del 56,7 y el 41,3%, respectivamente. El requerimiento de oxígeno suplementario previo al trasplante no parece afectar a la supervivencia (p = 0,44), al igual que los pacientes que se trasplantaron con ventilación mecánica no invasiva (p = 0,63). La supervivencia a los 5 y 10 años para los pacientes que no se trasplantan con CEC es del 75,69 y el 49,06%, respectivamente, mientras que los que se trasplantan bajo CEC tienen un supervivencia a los 5 y 10 años del 34,14 y el 29,87%, respectivamente (p = 0,001). La PaCO2 es un factor de riesgo independiente para la necesidad de CEC. Conclusiones: Los pacientes con FQ trasplantados pulmonares en nuestro centro tiene una supervivencia similar a la descrita por los registros internacionales. Los pacientes trasplantados bajo CEC tienen una menor supervivencia. La PaCO2 es factor de riesgo de necesidad de CEC durante el trasplante pulmonar

Introduction: Lung disease is the major cause of death among cystic fibrosis (CF) patients, affecting 80% of the population. The impact of extracorporeal circulation (ECC) during transplantation has not been fully clarified. This study aimed to evaluate the outcomes of lung transplantation for CF in a single center, and to assess the impact of ECC on survival. Methods: We performed a retrospective observational study of all trasplanted CF patients in a single center between 1992 and 2011. During this period, 64 lung transplantations for CF were performed. Results: Five- and 10-year survival of trasplanted patients was 56.7% and 41.3%, respectively. Pre-transplantation supplemental oxygen requirements and non-invasive mechanical ventilation (NIMV) do not seem to affect survival (P=.44 and P=.63, respectively). Five- and 10-year survival among patients who did not undergo ECC during transplantation was 75.69% and 49.06%, respectively, while in those did undergo ECC during the procedure, 5- and 10-year survival was 34.14% and 29.87%, respectively (P=.001). PaCO2 is an independent risk factor for the need for ECC. Conclusions: The survival rates of CF patients undergoing lung transplantation in our hospital are similar to those described in international registries. Survival is lower among patients receiving ECC during the procedure. PaCO2 is a risk factor for the need for ECC during lung transplantation

Humanos , Transplante de Pulmão/tendências , Fibrose Cística/diagnóstico , Circulação Extracorpórea/métodos , Fibrose Cística/fisiopatologia , Fibrose Cística/terapia , Sobrevivência , Estudos Retrospectivos , Estudo Observacional , Seguimentos
Arch. bronconeumol. (Ed. impr.) ; 54(6): 327-332, jun. 2018. ilus
Artigo em Espanhol | IBECS | ID: ibc-176165


Los valores de referencia de las pruebas de función pulmonar están basados históricamente en factores antropométricos como el peso, la altura, el género y la edad. La FVC y el FEV1 disminuyen con la edad y, en contraposición, volúmenes y capacidades como el RV y la FRC se incrementan. La TLC, CV, RV, FVC y FEV1 se ven afectados por la altura, puesto que son proporcionales al tamaño corporal. Esto significa que un individuo alto sufrirá un mayor decremento de sus volúmenes pulmonares a medida que aumente su edad. Algunas variables decrecen exponencialmente con el incremento del peso, como la FRC y el ERV, de tal forma que los sujetos con obesidad mórbida pueden llegar a alcanzar un volumen corriente cercano al RV. Los hombres poseen vías aéreas de conducción más largas que las mujeres, dando lugar a una mayor resistencia específica de las vías respiratorias. El mayor trabajo respiratorio en mujeres para aumentar la ventilación provoca que, en condiciones con la misma intensidad física, el consumo de oxígeno sea más alto que en hombres. En posición vertical los volúmenes pulmonares son más altos que en el resto de las posturas. La DLCO es significativamente mayor en posiciones supinas que en posición sentada y vertical, no existiendo diferencias significativas en posición sentada y de pie. Las características antropométricas no son suficientes para explicar las diferencias existentes en la función pulmonar entre diferentes etnias y ponen de manifiesto la importancia de considerar otros factores adicionales a los clásicos antropométricos para su medición

Lung function reference values are traditionally based on anthropometric factors, such as weight, height, sex, and age. FVC and FEV1 decline with age, while volumes and capacities, such as RV and FRC, increase. TLC, VC, RV, FVC and FEV1 are affected by height, since they are proportional to body size. This means that a tall individual will experience greater decrease in lung volumes as they get older. Some variables, such as FRC and ERV, decline exponentially with an increase in weight, to the extent that tidal volume in morbidly obese patients can be close to that of RV. Men have longer airways than women, causing greater specific resistance in the respiratory tract. The increased work of breathing to increase ventilation among women means that their consumption of oxygen is higher than men under similar conditions of physical intensity. Lung volumes are higher when the subject is standing than in other positions. DLCO is significantly higher in supine positions than in sitting or standing positions, but the difference between sitting and standing positions is not significant. Anthropometric characteristics are insufficient to explain differences in lung function between different ethnic groups, underlining the importance of considering other factors in addition to the conventional anthropometric measurements

Humanos , Testes de Função Respiratória/métodos , Valores de Referência , Complacência Pulmonar , Testes de Função Respiratória/tendências , Antropometria , Bibliometria , Espirometria/métodos , Pletismografia , Exercício , Sociedades Médicas/normas
Proc Natl Acad Sci U S A ; 115(21): 5516-5521, 2018 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-29735690


The precise determination of de novo genetic variants has enormous implications across different fields of biology and medicine, particularly personalized medicine. Currently, de novo variations are identified by mapping sample reads from a parent-offspring trio to a reference genome, allowing for a certain degree of differences. While widely used, this approach often introduces false-positive (FP) results due to misaligned reads and mischaracterized sequencing errors. In a previous study, we developed an alternative approach to accurately identify single nucleotide variants (SNVs) using only perfect matches. However, this approach could be applied only to haploid regions of the genome and was computationally intensive. In this study, we present a unique approach, coverage-based single nucleotide variant identification (COBASI), which allows the exploration of the entire genome using second-generation short sequence reads without extensive computing requirements. COBASI identifies SNVs using changes in coverage of exactly matching unique substrings, and is particularly suited for pinpointing de novo SNVs. Unlike other approaches that require population frequencies across hundreds of samples to filter out any methodological biases, COBASI can be applied to detect de novo SNVs within isolated families. We demonstrate this capability through extensive simulation studies and by studying a parent-offspring trio we sequenced using short reads. Experimental validation of all 58 candidate de novo SNVs and a selection of non-de novo SNVs found in the trio confirmed zero FP calls. COBASI is available as open source at for any researcher to use.

Variações do Número de Cópias de DNA , Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Pais , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos , Software , Algoritmos , Criança , Humanos