Registro de pacientes con distrofinopatías en Colombia

INTRODUCCIÓN. La distrofia muscular de Duchenne es una enfermedad neuromuscular con una herencia recesiva ligada al X que afecta a 1 de cada 3500 niños nacidos vivos. Se produce por mutaciones en el gen DMD que codifica para la distrofina. Se caracteriza por manifestaciones clínicas variables típicas de una distrofia muscular proximal progresiva. OBJETIVO. Realizar el primer registro en Colombia de los pacientes identificados con distrofinopatías, teniendo en cuenta características clínicas y paraclínicas, así como las mutaciones causales de esta patología. METODOLOGÍA Es un estudio descriptivo, transversal, de la revisión de historias clínicas de los pacientes con diagnóstico de DMD atendidos en la consulta de Genética de la Universidad del Rosario durante los años 2006 a 2015. RESULTADOS Se identificaron 99 pacientes, de los cuales 56 (56,56%) corresponden al fenotipo Duchenne y 12 (12,12%) al Becker. No fue posible clasificar a 31 pacientes (31,3%) por falta de datos clínicos. La edad de inicio de los síntomas fue en promedio de 4,41 años. Las mutaciones más frecuentes fueron las deleciones (69%), seguidas por las mutaciones puntuales(14%), las duplicaciones (11%) y por otras mutaciones (4%). CONCLUSIONES Este registro de distrofinopatías es el primero reportado en Colombia y el punto de partida para conocer la incidencia de la enfermedad, caracterización clínica y molecular de los pacientes, garantizando así el acceso oportuno a los nuevos tratamientos de medicina de precisión que permitan mejorar la calidad de vida de los pacientes y sus familias.

Prevalencia de punto de úlceras por presión y nivel de riesgo en el Hospital Universitario Fundación Santa Fe de Bogotá

Las úlceras por presión causadas por una presión sostenida sobre la piel y sus tejidos adyacentes es una problemática considerada de salud pública, dada su alta prevalencia, se presentan mayormente en personas que tienen restricción en su movilidad, en el 3 a 10 % de los pacientes hospitalizados; con una tasa de incidencia que oscila entre 7,7 y 26,9 %, con consecuencias para la institución por altos costos, la comunidad, el paciente y su familia. En Colombia solo se cuenta con algunos estudios en instituciones en Bogotá, Cartagena, Bucaramanga y Medellín. Los estudios de prevalencia son importantes porque permiten visualizar la situación de la problemática, incentiva la implementación de medidas preventivas y la formulación de políticas institucionales que promuevan la seguridad del paciente y la calidad de la atención. En el Hospital Universitario Fundación Santa Fe de Bogotá no se conoce con exactitud la prevalencia pero se sabe que está presente por las complicaciones y consecuencias ya mencionadas, por ende el objetivo de este estudio fue determinar la prevalencia de punto de úlceras por presión en los pacientes hospitalizados, y al finalizar ser insumo para un estudio posterior que genere un Programa de Piel Sana institucional. El estudio se realizó mediante la medición en 1 día donde se valoró todos los pacientes hospitalizados, se realizó un análisis descriptivo de cada variable, y con un análisis bivariado se obtuvo medidas de asociación para identificar la relación entre los factores de riesgo y el desarrollo de ulceras por presión.

Large Eddy Simulations applied to wind loading and pollutant dispersion

The application of Computational Fluid Dynamics based on the Reynolds-Averaged Navier-Stokes equations to the simulation of bluff body aerodynamics has been thoroughly investigated in the past. Although a satisfactory accuracy can be obtained for some urban physics problems their predictive capability is limited to the mean flow properties, while the ability to accurately predict turbulent fluctuations is recognized to be of fundamental importance when dealing with wind loading and pollution dispersion problems. The need to correctly take into account the flow dynamics when such problems are faced has led researchers to move towards scale-resolving turbulence models such as Large Eddy Simulations (LES). The development and assessment of LES as a tool for the analysis of these problems is nowadays an active research field and represents a demanding engineering challenge. This research work has two objectives. The first one is focused on wind loads assessment and aims to study the capabilities of LES in reproducing wind load effects in terms of internal forces on structural members. This differs from the majority of the existing research, where performance of LES is evaluated only in terms of surface pressures, and is done with a view of adopting LES as a complementary design tools alongside wind tunnel tests. The second objective is the study of LES capabilities in calculating pollutant dispersion in the built environment. The validation of LES in this field is considered to be of the utmost importance in order to conceive healthier and more sustainable cities. In order to validate the numerical setup adopted, a systematic comparison between numerical and experimental data is performed. The obtained results are intended to be used in the drafting of best practice guidelines for the application of LES in the urban physics field with a particular attention to wind load assessment and pollution dispersion problems.

Surviving Sepsis Campaign: international guidelines for management of severe sepsis and septic shock: 2008.

OBJECTIVE: To provide an update to the original Surviving Sepsis Campaign clinical management guidelines, "Surviving Sepsis Campaign Guidelines for Management of Severe Sepsis and Septic Shock," published in 2004. DESIGN: Modified Delphi method with a consensus conference of 55 international experts, several subsequent meetings of subgroups and key individuals, teleconferences, and electronic-based discussion among subgroups and among the entire committee. This process was conducted independently of any industry funding. METHODS: We used the Grades of Recommendation, Assessment, Development and Evaluation (GRADE) system to guide assessment of quality of evidence from high (A) to very low (D) and to determine the strength of recommendations. A strong recommendation (1) indicates that an intervention's desirable effects clearly outweigh its undesirable effects (risk, burden, cost) or clearly do not. Weak recommendations (2) indicate that the tradeoff between desirable and undesirable effects is less clear. The grade of strong or weak is considered of greater clinical importance than a difference in letter level of quality of evidence. In areas without complete agreement, a formal process of resolution was developed and applied. Recommendations are grouped into those directly targeting severe sepsis, recommendations targeting general care of the critically ill patient that are considered high priority in severe sepsis, and pediatric considerations. RESULTS: Key recommendations, listed by category, include early goal-directed resuscitation of the septic patient during the first 6 hrs after recognition (1C); blood cultures before antibiotic therapy (1C); imaging studies performed promptly to confirm potential source of infection (1C); administration of broad-spectrum antibiotic therapy within 1 hr of diagnosis of septic shock (1B) and severe sepsis without septic shock (1D); reassessment of antibiotic therapy with microbiology and clinical data to narrow coverage, when appropriate (1C); a usual 7-10 days of antibiotic therapy guided by clinical response (1D); source control with attention to the balance of risks and benefits of the chosen method (1C); administration of either crystalloid or colloid fluid resuscitation (1B); fluid challenge to restore mean circulating filling pressure (1C); reduction in rate of fluid administration with rising filing pressures and no improvement in tissue perfusion (1D); vasopressor preference for norepinephrine or dopamine to maintain an initial target of mean arterial pressure > or = 65 mm Hg (1C); dobutamine inotropic therapy when cardiac output remains low despite fluid resuscitation and combined inotropic/vasopressor therapy (1C); stress-dose steroid therapy given only in septic shock after blood pressure is identified to be poorly responsive to fluid and vasopressor therapy (2C); recombinant activated protein C in patients with severe sepsis and clinical assessment of high risk for death (2B except 2C for postoperative patients). In the absence of tissue hypoperfusion, coronary artery disease, or acute hemorrhage, target a hemoglobin of 7-9 g/dL (1B); a low tidal volume (1B) and limitation of inspiratory plateau pressure strategy (1C) for acute lung injury (ALI)/acute respiratory distress syndrome (ARDS); application of at least a minimal amount of positive end-expiratory pressure in acute lung injury (1C); head of bed elevation in mechanically ventilated patients unless contraindicated (1B); avoiding routine use of pulmonary artery catheters in ALI/ARDS (1A); to decrease days of mechanical ventilation and ICU length of stay, a conservative fluid strategy for patients with established ALI/ARDS who are not in shock (1C); protocols for weaning and sedation/analgesia (1B); using either intermittent bolus sedation or continuous infusion sedation with daily interruptions or lightening (1B); avoidance of neuromuscular blockers, if at all possible (1B); institution of glycemic control (1B), targeting a blood glucose < 150 mg/dL after initial stabilization (2C); equivalency of continuous veno-veno hemofiltration or intermittent hemodialysis (2B); prophylaxis for deep vein thrombosis (1A); use of stress ulcer prophylaxis to prevent upper gastrointestinal bleeding using H2 blockers (1A) or proton pump inhibitors (1B); and consideration of limitation of support where appropriate (1D). Recommendations specific to pediatric severe sepsis include greater use of physical examination therapeutic end points (2C); dopamine as the first drug of choice for hypotension (2C); steroids only in children with suspected or proven adrenal insufficiency (2C); and a recommendation against the use of recombinant activated protein C in children (1B). CONCLUSIONS: There was strong agreement among a large cohort of international experts regarding many level 1 recommendations for the best current care of patients with severe sepsis. Evidenced-based recommendations regarding the acute management of sepsis and septic shock are the first step toward improved outcomes for this important group of critically ill patients.

EFNS guidelines on diagnosis and management of neuromyelitis optica.

BACKGROUND AND PURPOSE: Neuromyelitis optica (NMO) or Devic's disease is a rare inflammatory and demyelinating autoimmune disorder of the central nervous system (CNS) characterized by recurrent attacks of optic neuritis (ON) and longitudinally extensive transverse myelitis (LETM), which is distinct from multiple sclerosis (MS). The guidelines are designed to provide guidance for best clinical practice based on the current state of clinical and scientific knowledge. SEARCH STRATEGY: Evidence for this guideline was collected by searches for original articles, case reports and meta-analyses in the MEDLINE and Cochrane databases. In addition, clinical practice guidelines of professional neurological and rheumatological organizations were studied. RESULTS: Different diagnostic criteria for NMO diagnosis [Wingerchuk et al. Revised NMO criteria, 2006 and Miller et al. National Multiple Sclerosis Society (NMSS) task force criteria, 2008] and features potentially indicative of NMO facilitate the diagnosis. In addition, guidance for the work-up and diagnosis of spatially limited NMO spectrum disorders is provided by the task force. Due to lack of studies fulfilling requirement for the highest levels of evidence, the task force suggests concepts for treatment of acute exacerbations and attack prevention based on expert opinion. CONCLUSIONS: Studies on diagnosis and management of NMO fulfilling requirements for the highest levels of evidence (class I-III rating) are limited, and diagnostic and therapeutic concepts based on expert opinion and consensus of the task force members were assembled for this guideline.

Biologics in rheumatoid arthritis - recommendations for Swiss practice.

The new paradigm of therapy in rheumatoid arthritis is to aim toward early and complete remission, using a larger use of conventional DMARDs and biologic agents. The present recommendations were established through a consensus to help practitioners in their daily use of those agents, to reflect the current "best practice" in Switzerland.

Guidelines on the Provision of Structured Car Parking Facilities at Acute Hospitals

Guidelines on the Provision of Structured Car Parking Facilities at Acute Hospitals These guidelines have been developed to ensure that any future developments for car parking facilities are consistent with Department policy and deliver value for money. They are intended to assist acute hospitals in ensuring that best practice is followed at all stages in the provision and management of structured car parking facilities. Click here to download PDF 23kb

Comment mettre en application des recommandations de pratique clinique? L'exemple des dyslipidémies [How to apply clinical guidelines in medical practice? The example of dyslipidemia]

How to summarize and facilitate the implementation of national and international guidelines in clinical practice? To adress these issues, we present a summary of dyslipidemia management for general practitioners. To achieve these aims, we adopted strategies based on international and national guidelines and focused on clinical applications which implies to choose specific options, such as the use of cardiovascular risk score and specific therapies as first options.

Physician perceptions of risk regarding mood disorders and pharmacological management during pregnancy: What is current practice?

Mood disorders are the most common form of mental illness and one of the leading causes of morbidity worldwide. Major depressive disorder and bipolar disorder have a lifetime prevalence of 16.2% and 4.4%, respectively. Women comprise a substantial proportion of this population, and an estimated 500,000 pregnancies each year involve women with a psychiatric condition. Management with psychotropic medications is considered standard of care for most patients with mood disorders. However, many of these medications are known human teratogens. Because pregnant women with mood disorders face a high risk of relapse if unmanaged, the obstetrician faces a unique challenge in providing the best care to both mother and baby. It has been suggested that many obstetricians overestimate the teratogenic risks associated with psychotropic medications, while concurrently underestimating the risks associated with unmanaged mood disorders. This may be due a knowledge gap regarding the most current teratogen information, and lack of official management guidelines. Therefore, the purpose of this study is to determine the current knowledge base of obstetricians regarding the teratogenic effects of common psychotropic medications, as wells as to capture current management practices for pregnant women with mood disorders. A total of 117 Texas obstetricians responded to a survey regarding teratogen knowledge and management practice. It was common for respondents to encounter women who disclose both having a mood disorder and taking a psychotropic medication during pregnancy. Many respondents did not utilize up-to-date drug counseling resources, and were unaware of or over-estimated the teratogenic risks of common medications used to treat mood disorders. Finally, many respondents reported wanting to refer pregnant patients with mood disorders to psychiatrists for co-management, but are reportedly restricted in doing so due to accessibility or insurance issues. This study demonstrates that there is a knowledge gap among obstetricians regarding the teratogenicity of common psychotropic medications utilized to manage a patient population they frequently encounter. Further, obstetricians have vastly different risk perceptions of these medications, resulting in various management approaches and recommendations. Future research should focus on establishing standard practice guidelines, as well as better accessibility to psychiatric services for pregnant women.

Attributes of clinical guidelines that influence use of guidelines in general practice: observational study

Objective: To determine which attributes of clinical practice guidelines influence the use of guidelines in decision making in clinical practice.

Medicines reconciliation in comparison with NICE guidelines across secondary care mental health organisations

Background Medicines reconciliation-identifying and maintaining an accurate list of a patient's current medications-should be undertaken at all transitions of care and available to all patients. Objective A self-completion web survey was conducted for chief pharmacists (or equivalent) to evaluate medicines reconciliation levels in secondary care mental health organisations. Setting The survey was sent to secondary care mental health organisations in England, Scotland, Northern Ireland and Wales. Method The survey was launched via Bristol Online Surveys. Quantitative data was analysed using descriptive statistics and qualitative data was collected through respondents free-text answers to specific questions. Main outcomes measure Investigate how medicines reconciliation is delivered, incorporate a clear description of the role of pharmacy staff and identify areas of concern. Results Forty-two (52 % response rate) surveys were completed. Thirty-seven (88.1 %) organisations have a formal policy for medicines reconciliation with defined steps. Results show that the pharmacy team (pharmacists and pharmacy technicians) are the main professionals involved in medicines reconciliation with a high rate of doctors also involved. Training procedures frequently include an induction by pharmacy for doctors whilst the pharmacy team are generally trained by another member of pharmacy. Mental health organisations estimate that nearly 80 % of medicines reconciliation is carried out within 24 h of admission. A full medicines reconciliation is not carried out on patient transfer between mental health wards; instead quicker and less exhaustive variations are implemented. 71.4 % of organisations estimate that pharmacy staff conduct daily medicine reconciliations for acute admission wards (Monday to Friday). However, only 38 % of organisations self-report to pharmacy reconciling patients' medication for other teams that admit from primary care. Conclusion Most mental health organisations appear to be complying with NICE guidance on medicines reconciliation for their acute admission wards. However, medicines reconciliation is conducted less frequently on other units that admit from primary care and rarely completed on transfer when it significantly differs to that on admission. Formal training and competency assessments on medicines reconciliation should be considered as current training varies and adherence to best practice is questionable.

Online-questionaire design guidelines

As a new medium for questionnaire delivery, the internet has the potential to revolutionize the survey process. Online (web-based) questionnaires provide several advantages over traditional survey methods in terms of cost, speed, appearance, flexibility, functionality, and usability. Designers of online-questionnaires are faced with a plethora of design tools to assist in the development of their electronic questionnaires. Little, if any, support is incorporated, however, within these tools to guide online-questionnaire designers according to best practice. In essence, an online-questionnaire combines questionnaire-based survey functionality with that of a webpage/site. As such, the design of an online-questionnaire should incorporate principles from both contributing fields. Drawing on existing guidelines for paper-based questionnaire design, website design (paying particular attention to issues of accessibility and usability), and existing but scarce guidelines for electronic surveys, we have derived a comprehensive set of guidelines for the design of online-questionnaires. This article introduces this comprehensive set of guidelines – as a practical reference guide – for the design of online-questionnaires.

What difference doguidelines make? An observational study of online-questionnaire design guidelines put to practical use

As a new medium for questionnaire delivery, the Internet has the potential to revolutionize the survey process. Online-questionnaires can provide many capabilities not found in traditional paper-based questionnaires. Despite this, and the introduction of a plethora of tools to support online-questionnaire creation, current electronic survey design typically replicates the look-and-feel of paper-based questionnaires, thus failing to harness the full power of the electronic delivery medium. A recent environmental scan of online-questionnaire design tools found that little, if any, support is incorporated within these tools to guide questionnaire designers according to best-practice [Lumsden & Morgan 2005]. This paper briefly introduces a comprehensive set of guidelines for the design of online-questionnaires. Drawn from relevant disparate sources, all the guidelines incorporated within the set are proven in their own right; as an initial assessment of the value of the set of guidelines as a practical reference guide, we undertook an informal study to observe the effect of introducing the guidelines into the design process for a complex online-questionnaire. The paper discusses the qualitative findings — which are encouraging for the role of the guidelines in the ‘bigger picture’ of online survey delivery across many domains such as e-government, e-business, and e-health — of this case study.