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BACKGROUND: Many advantages of hospital at home (HaH), as a modality of acute care, have been highlighted, but controversies exist regarding the cost-benefit trade-offs. The objective is to assess health outcomes and analytical costs of hospital avoidance (HaH-HA) in a consolidated service with over ten years of delivery of HaH in Barcelona (Spain). METHODS: A retrospective cost-consequence analysis of all first episodes of HaH-HA, directly admitted from the emergency room (ER) in 2017-2018, was carried out with a health system perspective. HaH-HA was compared with a propensity-score-matched group of contemporary patients admitted to conventional hospitalization (Controls). Mortality, re-admissions, ER visits, and direct healthcare costs were evaluated. RESULTS: HaH-HA and Controls (n = 441 each) were comparable in terms of age (73 [SD16] vs. 74 [SD16]), gender (male, 57% vs. 59%), multimorbidity, healthcare expenditure during the previous year, case mix index of the acute episode, and main diagnosis at discharge. HaH-HA presented lower mortality during the episode (0 vs. 19 (4.3%); p < 0.001). At 30 days post-discharge, HaH-HA and Controls showed similar re-admission rates; however, ER visits were lower in HaH-HA than in Controls (28 (6.3%) vs. 34 (8.1%); p = 0.044). Average costs per patient during the episode were lower in the HaH-HA group ( 1,078) than in Controls ( 2,171). Likewise, healthcare costs within the 30 days post-discharge were also lower in HaH-Ha than in Controls (p < 0.001). CONCLUSIONS: The study showed higher performance and cost reductions of HaH-HA in a real-world setting. The identification of sources of savings facilitates scaling of hospital avoidance. REGISTRATION: ClinicalTrials.gov (26/04/2017; NCT03130283).
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We report 8 cases of persistent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia in patients previously treated with anti-CD20 monoclonal antibodies. Polymerase chain reaction of nasopharyngeal swabs for SARS-CoV-2 was negative in most cases; viral cell cultures confirmed that viable SARS-Co-2 virus was present. Four patients were treated with anti-SARS-CoV-2 hyperimmune globulins with rapid resolution of disease.
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BACKGROUND: Innovative digital health tools are increasingly being evaluated and, in some instances, integrated at scale into health systems. However, the applicability of assessment methodologies in real-life scenarios to demonstrate value generation and consequently foster sustainable adoption of digitally enabled health interventions has some bottlenecks. OBJECTIVE: We aimed to build on the process of premarket assessment of 4 digital health interventions piloted at the Hospital Clinic de Barcelona (HCB), as well as on the analysis of current medical device software regulations and postmarket surveillance in the European Union and United States in order to generate recommendations and lessons learnt for the sustainable adoption of digitally enabled health interventions. METHODS: Four digital health interventions involving prototypes were piloted at the HCB (studies 1-4). Cocreation and quality improvement methodologies were used to consolidate a pragmatic evaluation method to assess the perceived usability and satisfaction of end users (both patients and health care professionals) by means of the System Usability Scale and the Net Promoter Score, including general questions about satisfaction. Analyses of both medical software device regulations and postmarket surveillance in the European Union and United States (2017-2021) were performed. Finally, an overarching analysis on lessons learnt was conducted considering 4 domains (technical, clinical, usability, and cost), as well as differentiating among 3 different eHealth strategies (telehealth, integrated care, and digital therapeutics). RESULTS: Among the participant stakeholders, the System Usability Scale score was consistently higher in patients (studies 1, 2, 3, and 4: 78, 67, 56, and 76, respectively) than in health professionals (studies 2, 3, and 4: 52, 43, and 54, respectively). In general, use of the supporting digital health tools was recommended more by patients (studies 1, 2, 3, and 4: Net Promoter Scores of -3%, 31%, -21%, and 31%, respectively) than by professionals (studies 2, 3, and 4: Net Promoter Scores of -67%, 1%, and -80%, respectively). The overarching analysis resulted in pragmatic recommendations for the digital health evaluation domains and the eHealth strategies considered. CONCLUSIONS: Lessons learnt on the digitalization of health resulted in practical recommendations that could contribute to future deployment experiences.
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Programas Informáticos , Telemedicina , Humanos , Unión Europea , Servicios de Salud , Telemedicina/métodos , Centros de Atención Terciaria , Ciencia de la Implementación , Evaluación de la Tecnología BiomédicaRESUMEN
Introduction: The efficacy-effectiveness gap constitutes a well-known limitation for adoption of digitally enabled integrated care services. The current report describes the co-creation process undertaken (2016-2021) to deploy a prehabilitation service at Hospital Clínic de Barcelona with the final aim of achieving sustainable adoption and facilitate site transferability. Methods: An implementation research approach with a population-based orientation, combining experience-based co-design and quality improvement methodologies, was applied. We undertook several design-thinking sessions (Oct-Nov 2017, June 2021 and December 2021) to generate and follow-up a work plan fostering service scalability. The implementation process was assessed using the Comprehensive Framework for Implementation Research, leading to the identification of key performance indicators. Discussion: Personalization and modularity of the intervention according to patients' surgical risk were identified as core traits to enhance patients' adherence and value generation. A digitally enabled service workflow, with an adaptive and collaborative case management approach, should combine face-to-face and remotely supervised sessions with intelligent systems for patients' and professionals' decision support. The business model envisages operational costs financed by savings generated by the service. Conclusions: Evidence-based co-creation, combining appropriate methodologies and a structured evaluation framework, was key to address challenges associated with sustainable prehabilitation service adoption, scalability and transferability.
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BACKGROUND: Applicability of comprehensive assessment of integrated care services in real world settings is an unmet need. To this end, a Triple Aim evaluation of Hospital at Home (HaH), as use case, was done. As ancillary aim, we explored use of the approach for monitoring the impact of adoption of integrated care at health system level in Catalonia (Spain). METHODS: Prospective cohort study over one year period, 2017-2018, comparing hospital avoidance (HaH-HA) with conventional hospitalization (UC) using propensity score matching. Participants were after the first episode directly admitted to HaH-HA or the corresponding control group. Triple Aim assessment using multiple criteria decision analysis (MCDA) was done. Moreover, applicability of a Triple Aim approach at health system level was explored using registry data. RESULTS: HaH-HA depicted lower: i) Emergency Room Department (ER) visits (p < .001), ii) Unplanned re-admissions (p = .012); and iii) costs (p < .001) than UC. The weighted aggregation of the standardized values of each of the eight outcomes, weighted by the opinions of the stakeholder groups considered in the MCDA: i) enjoyment of life; ii) resilience; iii) physical functioning; iv) continuity of care; v) psychological wellbeing; (vi) social relationships & participation; (vii) person-centeredness; and (viii) costs, indicated better performance of HaH-HA than UC (p < .05). Actionable factors for Triple Aim assessment of the health system with a population-health approach were identified. CONCLUSIONS: We confirmed health value generation of HaH-HA. The study identified actionable factors to enhance applicability of Triple Aim assessment at health system level for monitoring the impact of adoption of integrated care. REGISTRATION: ClinicalTrials.gov (26/04/2017; NCT03130283).
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Prestación Integrada de Atención de Salud , Hospitales , Estudios de Cohortes , Hospitalización , Humanos , Tiempo de Internación , Estudios ProspectivosRESUMEN
BACKGROUND: Fatigue is the most prevalent and debilitating long-COVID (coronavirus disease) symptom; however, risk factors and pathophysiology of this condition remain unknown. We assessed risk factors for long-COVID fatigue and explored its possible pathophysiology. METHODS: This was a nested case-control study in a COVID recovery clinic. Individuals with (cases) and without (controls) significant fatigue were included. We performed a multidimensional assessment evaluating various parameters, including pulmonary function tests and cardiopulmonary exercise testing, and implemented multivariable logistic regression to assess risk factors for significant long-COVID fatigue. RESULTS: A total of 141 individuals were included. The mean age was 47 (SD: 13) years; 115 (82%) were recovering from mild coronavirus disease 2019 (COVID-19). Mean time for evaluation was 8 months following COVID-19. Sixty-six (47%) individuals were classified with significant long-COVID fatigue. They had a significantly higher number of children, lower proportion of hypothyroidism, higher proportion of sore throat during acute illness, higher proportions of long-COVID symptoms, and of physical limitation in daily activities. Individuals with long-COVID fatigue also had poorer sleep quality and higher degree of depression. They had significantly lower heart rate [153.52 (22.64) vs 163.52 (18.53); P = .038] and oxygen consumption per kilogram [27.69 (7.52) vs 30.71 (7.52); P = .036] at peak exercise. The 2 independent risk factors for fatigue identified in multivariable analysis were peak exercise heart rate (OR: .79 per 10 beats/minute; 95% CI: .65-.96; P = .019) and long-COVID memory impairment (OR: 3.76; 95% CI: 1.57-9.01; P = .003). CONCLUSIONS: Long-COVID fatigue may be related to autonomic dysfunction, impaired cognition, and decreased mood. This may suggest a limbic-vagal pathophysiology. CLINICAL TRIALS REGISTRATION: NCT04851561.
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COVID-19 , Fatiga , Humanos , Persona de Mediana Edad , Estudios de Casos y Controles , COVID-19/complicaciones , Fatiga/epidemiología , Factores de Riesgo , Adulto , Síndrome Post Agudo de COVID-19RESUMEN
This paper provides a deeper understanding of the mechanisms underlying implementation strategies for integrated care. As part of the SELFIE project, 17 integrated care programmes addressing multi-morbidity from eight European countries were selected and studied. Data was extracted from 'thick descriptions' of the 17 programmes and analysed both inductively and deductively using implementation theory. The following ten mechanisms for successful implementation of integrated care were identified. With regards to service delivery, successful implementers (1) commonly adopted an incremental growth model rather than a disruptive innovation approach, and found (2) a balance between flexibility and formal structures of integration. For leadership & governance, they (3) applied collaborative governance by engaging all stakeholders, and (4) distributed leadership throughout all levels of the system. For the workforce, these implementers (5) were able to build a multidisciplinary team culture with mutual recognition of each other's roles, and (6) stimulated the development of new roles and competencies for integrated care. With respect to financing, (7) secured long-term funding and innovative payments were applied as means to overcome fragmented financing of health and social care. Implementers emphasised (8) the implementation of ICT that was specifically developed to support collaboration and communication rather than administrative procedures (technology & medical devices), and (9) created feedback loops and a continuous monitoring system (information & research). The overarching mechanism was that implementers (10) engaged in alignment work across the different components and levels of the health and social care system. These evidence-based mechanisms for implementation are applicable in different local, regional and national contexts.
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Prestación Integrada de Atención de Salud , Liderazgo , Europa (Continente) , Humanos , MorbilidadRESUMEN
BACKGROUND: As the prevalence of multi-morbidity increases in ageing societies, health and social care systems face the challenge of providing adequate care to persons with complex needs. Approaches that integrate care across sectors and disciplines have been increasingly developed and implemented in European countries in order to tackle this challenge. The aim of the article is to identify success factors and crucial elements in the process of integrated care delivery for persons with complex needs as seen from the practical perspective of the involved stakeholders (patients, professionals, informal caregivers, managers, initiators, payers). METHODS: Seventeen integrated care programmes for persons with complex needs in 8 European countries were investigated using a qualitative approach, namely thick description, based on semi-structured interviews and document analysis. In total, 233 face-to-face interviews were conducted with stakeholders of the programmes between March and September 2016. Meta-analysis of the individual thick description reports was performed with a focus on the process of care delivery. RESULTS: Four categories that emerged from the overarching analysis are discussed in the article: (1) a holistic view of the patient, considering both mental health and the social situation in addition to physical health, (2) continuity of care in the form of single contact points, alignment of services and good relationships between patients and professionals, (3) relationships between professionals built on trust and facilitated by continuous communication, and (4) patient involvement in goal-setting and decision-making, allowing patients to adapt to reorganised service delivery. CONCLUSIONS: We were able to identify several key aspects for a well-functioning integrated care process for complex patients and how these are put into actual practice. The article sets itself apart from the existing literature by specifically focussing on the growing share of the population with complex care needs and by providing an analysis of actual processes and interpersonal relationships that shape integrated care in practice, incorporating evidence from a variety of programmes in several countries.
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Cuidadores , Prestación Integrada de Atención de Salud , Necesidades y Demandas de Servicios de Salud , Prestación Integrada de Atención de Salud/estadística & datos numéricos , Europa (Continente) , Femenino , Servicios de Salud para Ancianos , Humanos , Masculino , Apoyo SocialRESUMEN
BACKGROUND: Home-based noninvasive ventilation has proven cost-effective. But, adherence to therapy still constitutes a common clinical problem. We hypothesized that a behavioral intervention supported by a mobile health (mHealth) app could enhance patient self-efficacy. It is widely accepted that mHealth-supported services can enhance productive interactions among the stakeholders involved in home-based respiratory therapies. OBJECTIVE: This study aimed to measure changes in self-efficacy in patients with chronic respiratory failure due to diverse etiologies during a 3-month follow-up period after the intervention. Ancillary objectives were assessment of usability and acceptability of the mobile app as well as its potential contribution to collaborative work among stakeholders. METHODS: A single-blind, single-center, randomized controlled trial was conducted between February 2019 and June 2019 with 67 adult patients with chronic respiratory failure undergoing home-based noninvasive ventilation. In the intervention group, a psychologist delivered a face-to-face motivational intervention. Follow-up was supported by a mobile app that allowed patients to report the number of hours of daily noninvasive ventilation use and problems with the therapy. Advice was automatically delivered by the mobile app in case of a reported problem. The control group received usual care. The primary outcome was the change in the Self Efficacy in Sleep Apnea questionnaire score. Secondary outcomes included app usability, app acceptability, continuity of care, person-centered care, and ventilatory parameters. RESULTS: Self-efficacy was not significantly different in the intervention group after the intervention (before: mean 3.4, SD 0.6; after: mean 3.4, SD 0.5, P=.51). No changes were observed in adherence to therapy nor quality of life. Overall, the mHealth tool had a good usability score (mean 78 points) and high acceptance rate (mean score of 7.5/10 on a Likert scale). It was considered user-friendly (mean score of 8.2/10 on a Likert scale) and easy to use without assistance (mean score of 8.5/10 on a Likert scale). Patients also scored the perception of continuity of care and person-centered care as high. CONCLUSIONS: The integrated care intervention supported by the mobile app did not improve patient self-management. However, the high acceptance of the mobile app might indicate potential for enhanced communication among stakeholders. The study identified key elements required for mHealth tools to provide effective support to collaborative work and personalized care. TRIAL REGISTRATION: ClinicalTrials.gov NCT03932175; https://clinicaltrials.gov/ct2/show/NCT03932175.
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Prestación Integrada de Atención de Salud , Ventilación no Invasiva , Telemedicina , Adulto , Humanos , Calidad de Vida , Método Simple CiegoRESUMEN
BACKGROUND: Digital health tools comprise a wide range of technologies to support health processes. The potential of these technologies to effectively support health care transformation is widely accepted. However, wide scale implementation is uneven among countries and regions. Identification of common factors facilitating and hampering the implementation process may be useful for future policy recommendations. OBJECTIVE: The aim of this study was to analyze the implementation of digital health tools to support health care and social care services, as well as to facilitate the longitudinal assessment of these services, in 17 selected integrated chronic care (ICC) programs from 8 European countries. METHODS: A program analysis based on thick descriptions-including document examinations and semistructured interviews with relevant stakeholders-of ICC programs in Austria, Croatia, Germany, Hungary, the Netherlands, Norway, Spain, and the United Kingdom was performed. A total of 233 stakeholders (ie, professionals, providers, patients, carers, and policymakers) were interviewed from November 2014 to September 2016. The overarching analysis focused on the use of digital health tools and program assessment strategies. RESULTS: Supporting digital health tools are implemented in all countries, but different levels of maturity were observed among the programs. Only few ICC programs have well-established strategies for a comprehensive longitudinal assessment. There is a strong relationship between maturity of digital health and proper evaluation strategies of integrated care. CONCLUSIONS: Notwithstanding the heterogeneity of the results across countries, most programs aim to evolve toward a digital transformation of integrated care, including implementation of comprehensive assessment strategies. It is widely accepted that the evolution of digital health tools alongside clear policies toward their adoption will facilitate regional uptake and scale-up of services with embedded digital health tools.
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Prestación Integrada de Atención de Salud/métodos , Evaluación de Programas y Proyectos de Salud/métodos , Europa (Continente) , Femenino , HumanosRESUMEN
BACKGROUND: Comprehensive assessment of integrated care deployment constitutes a major challenge to ensure quality, sustainability and transferability of both healthcare policies and services in the transition toward a coordinated service delivery scenario. To this end, the manuscript articulates four different protocols aiming at assessing large-scale implementation of integrated care, which are being developed within the umbrella of the regional project Nextcare (2016-2019), undertaken to foster innovation in technologically-supported services for chronic multimorbid patients in Catalonia (ES) (7.5 M inhabitants). Whereas one of the assessment protocols is designed to evaluate population-based deployment of care coordination at regional level during the period 2011-2017, the other three are service-based protocols addressing: i) Home hospitalization; ii) Prehabilitation for major surgery; and, iii) Community-based interventions for frail elderly chronic patients. All three services have demonstrated efficacy and potential for health value generation. They reflect different implementation maturity levels. While full coverage of the entire urban health district of Barcelona-Esquerra (520 k inhabitants) is the main aim of home hospitalization, demonstration of sustainability at Hospital Clinic of Barcelona constitutes the core goal of the prehabilitation service. Likewise, full coverage of integrated care services addressed to frail chronic patients is aimed at the city of Badalona (216 k inhabitants). METHODS: The population-based analysis, as well as the three service-based protocols, follow observational and experimental study designs using a non-randomized intervention group (integrated care) compared with a control group (usual care) with a propensity score matching method. Evaluation of cost-effectiveness of the interventions using a Quadruple aim approach is a central outcome in all protocols. Moreover, multi-criteria decision analysis is explored as an innovative method for health delivery assessment. The following additional dimensions will also be addressed: i) Determinants of sustainability and scalability of the services; ii) Assessment of the technological support; iii) Enhanced health risk assessment; and, iv) Factors modulating service transferability. DISCUSSION: The current study offers a unique opportunity to undertake a comprehensive assessment of integrated care fostering deployment of services at regional level. The study outcomes will contribute refining service workflows, improving health risk assessment and generating recommendations for service selection. TRIALS REGISTRATION: NCT03130283 (date released 04/06/2018), NCT03768050 (date released 12/05/2018), NCT03767387 (date released 12/05/2018).
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Análisis Costo-Beneficio/normas , Prestación Integrada de Atención de Salud/normas , Anciano , Protocolos Clínicos , Prestación Integrada de Atención de Salud/economía , Femenino , Investigación sobre Servicios de Salud , Humanos , Masculino , Estudios Observacionales como Asunto , Evaluación de Resultado en la Atención de Salud , EspañaRESUMEN
BACKGROUND: Evaluation of integrated care programmes for individuals with multi-morbidity requires a broader evaluation framework and a broader definition of added value than is common in cost-utility analysis. This is possible through the use of Multi-Criteria Decision Analysis (MCDA). METHODS AND RESULTS: This paper presents the seven steps of an MCDA to evaluate 17 different integrated care programmes for individuals with multi-morbidity in 8 European countries participating in the 4-year, EU-funded SELFIE project. In step one, qualitative research was undertaken to better understand the decision-context of these programmes. The programmes faced decisions related to their sustainability in terms of reimbursement, continuation, extension, and/or wider implementation. In step two, a uniform set of decision criteria was defined in terms of outcomes measured across the 17 programmes: physical functioning, psychological well-being, social relationships and participation, enjoyment of life, resilience, person-centeredness, continuity of care, and total health and social care costs. These were supplemented by programme-type specific outcomes. Step three presents the quasi-experimental studies designed to measure the performance of the programmes on the decision criteria. Step four gives details of the methods (Discrete Choice Experiment, Swing Weighting) to determine the relative importance of the decision criteria among five stakeholder groups per country. An example in step five illustrates the value-based method of MCDA by which the performance of the programmes on each decision criterion is combined with the weight of the respective criterion to derive an overall value score. Step six describes how we deal with uncertainty and introduces the Conditional Multi-Attribute Acceptability Curve. Step seven addresses the interpretation of results in stakeholder workshops. DISCUSSION: By discussing our solutions to the challenges involved in creating a uniform MCDA approach for the evaluation of different programmes, this paper provides guidance to future evaluations and stimulates debate on how to evaluate integrated care for multi-morbidity.
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Prestación Integrada de Atención de Salud/normas , Afecciones Crónicas Múltiples/terapia , Análisis Costo-Beneficio , Toma de Decisiones , Técnicas de Apoyo para la Decisión , Europa (Continente) , Medicina Basada en la Evidencia , Humanos , Evaluación de Programas y Proyectos de Salud , IncertidumbreRESUMEN
La enfermedad relacionada con IgG4 es una condición fibroinflamatoria en la cual los distintos órganos afectados comparten similitudes patológicas. Recientemente se ha caracterizado clínica y radiológicamente esta enfermedad en órganos torácicos. La mayoría de los casos descritos abogan por un tratamiento precoz con terapia inmunosupresora y observan una respuesta rápida y favorable. Describimos 3 casos de enfermedad pulmonar relacionada con IgG4 que no recibieron tratamiento farmacológico y que tuvieron una respuesta clínica y radiológica favorable o estable durante el seguimiento. La terapia inmunosupresora puede no ser necesaria en algunos casos de enfermedad pulmonar relacionada con IgG4
IgG4-related disease is a fibroinflammatory disease in which the organs involved share similar pathological findings. Chest disease has been recently clinically and radiologically characterized. Most reports advocate prompt immunosuppressive therapy and describe a fast and good response. We report 3 cases of untreated IgG4-related lung disease that on follow-up have been clinically asymptomatic and radiologically stable or improved. In some cases of IgG4-related lung disease immunosuppressive therapy may not be warranted
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Enfermedades Pulmonares/diagnóstico , Inmunoglobulina G , Terapia de Inmunosupresión/métodos , Terapia de Inmunosupresión , Reacción en Cadena de la Polimerasa/métodos , Espirometría/métodos , Tos/complicaciones , Tos/etiología , Disnea/complicaciones , Dacriocistitis/diagnóstico , Dolor en el Pecho/complicaciones , Dolor en el Pecho/etiología , TóraxRESUMEN
IgG4-related disease is a fibroinflammatory disease in which the organs involved share similar pathological findings. Chest disease has been recently clinically and radiologically characterized. Most reports advocate prompt immunosuppressive therapy and describe a fast and good response. We report 3 cases of untreated IgG4-related lung disease that on follow-up have been clinically asymptomatic and radiologically stable or improved. In some cases of IgG4-related lung disease immunosuppressive therapy may not be warranted.
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Inmunoglobulina G , Enfermedades Pulmonares/inmunología , Adulto , Femenino , Humanos , Enfermedades Pulmonares/terapia , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: To estimate the prevalence of congenital heart defects in Colombia using the methodology of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC, for its initials in Spanish) and to make an epidemiological description of the study population. MATERIAL AND METHODS: A prospective case-control study nested to a hospital-based cohort included 44,985 infants born from June 1, 2001 to April 30, 2005 in 11 Colombian hospitals. RESULTS: Fifty-five cases were reported (1.2 per 1,000); 36 (65.5%) corresponded to severe defects and 18 (32.7%) had associated extracardiac malformations. The following risk factors were identified: maternal age > or = 40 years, paternal age > or = 30 years, gestational age < or = 37 weeks, birth weight < or = 3,000 g and > or = 3 pregnancies. CONCLUSIONS: This study shows a similar prevalence of congenital heart disease to that found in Spain, Mexico, and South America. Risk factors identified emphasize the need for public health policies in a developing country undergoing an epidemiological transition.
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Cardiopatías Congénitas/epidemiología , Estudios de Casos y Controles , Colombia/epidemiología , Femenino , Humanos , Recién Nacido , Masculino , Prevalencia , Estudios ProspectivosRESUMEN
OBJECTIVE: To estimate the prevalence of congenital heart defects in Colombia using the methodology of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC, for its initials in Spanish) and to make an epidemiological description of the study population. MATERIAL AND METHODS: A prospective case-control study nested to a hospital-based cohort included 44,985 infants born from June 1, 2001 to April 30, 2005 in 11 Colombian hospitals. RESULTS: Fifty-five cases were reported (1.2 per 1,000); 36 (65.5%) corresponded to severe defects and 18 (32.7%) had associated extracardiac malformations. The following risk factors were identified: maternal age > or = 40 years, paternal age > or = 30 years, gestational age < or = 37 weeks, birth weight < or = 3,000 g and > or = 3 pregnancies. CONCLUSIONS: This study shows a similar prevalence of congenital heart disease to that found in Spain, Mexico, and South America. Risk factors identified emphasize the need for public health policies in a developing country undergoing an epidemiological transition.
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Femenino , Humanos , Recién Nacido , Masculino , Cardiopatías Congénitas , Estudios de Casos y Controles , Colombia , Prevalencia , Estudios ProspectivosRESUMEN
La displasia campomélica es una alteración del desarrollo óseo que se presenta de forma austosómica dominante. Se caracteriza por el encorvamiento de los fémures y tibias, junto con otras alteraciones orofaciales, cardiopulmonares y neurológicas. El cariotipo puede mostrar sexo reverso. Las mutaciones del gen SOX9 son responsables en la mayoría de casos de estas alteraciones esqueléticas y genitales. Se presenta aquí un caso de displasia campomélica con compromiso óseo de miembros inferiores característico, identificado a través de ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) en Colombia y se hace una revisión de la fisiopatología molecular de la enfermedad