Protocolo y algoritmo de diagnóstico, tratamiento y derivación ágil de las úlceras de la extremidad inferior / Protocol and algorithm for diagnosis, treatment and early referral of lower limb ulcers

Las úlceras venosas son una patología muy prevalente, especialmente en pacientes de edad avanzada. repercutennegativamente en la calidad de vida de los pacientes y conllevan un importante consumo de recursos. este artículopropone un práctico algoritmo para el diagnóstico y el tratamiento de las úlceras en la pierna con el objetivo deoptimizar su manejo. existe una amplia literatura sobre el tema, pero sigue existiendo una brecha entre la evidenciacientífi ca y la práctica clínica que seguimos tratando de minimizar. Laboratorios Urgo propuso al Capítulo español de Flebología y Linfología la creación de un comité de expertos deespaña y portugal para la elaboración de un algoritmo de diagnóstico, tratamiento y derivación ágil de las úlcerasen la extremidad inferior. Se realizó una búsqueda bibliográfica sistemática y se tuvieron en cuenta las guías depráctica clínica (GpC). Se diseñó un algoritmo sobre una regla nemotécnica alfabética que busca ayudar a memorizar los pasos clave deldiagnóstico y del tratamiento de estas úlceras. Se englobaron todos los aspectos prácticos, desde la valoración en atención primaria por médicos y enfermerashasta la atención especializada por el especialista en angiología y cirugía vascular. Con las letras del abecedario dela a hasta la F, resumimos los pasos necesarios para asegurar el diagnóstico de la úlcera, el mejor (best) tratamientolocal, terapia compresiva, tratamiento preventivo de recidiva después de la cicatrización de la úlcera y estrategiaquirúrgica y farmacológica.el diagnóstico preciso, la actuación correcta ajustada a las GpC y la derivación temprana para valorar estrategiasquirúrgicas o escleroterapia contribuyen a la resolución y a la reducción del tiempo de cicatrización de las úlcerasy la mejora de la calidad de vida de los pacientes. Seguir las GpC a través de un algoritmo reduce el consumo derecursos y de gasto, acelerando la cicatrización de la úlcera y previniendo su recidiva.(AU)

Venous ulcers are a prevalent disease, especially in elderly patients. they have a negative impact in patients’ qualityof life and carry a significant economic burden. this article suggests an algorithm for the diagnosis and treatment oflower extremity ulcers in order to optimize their management. there is huge evidence and multiple organizationshave published guidelines, consensus documents and treatment recommendations. nevertheless, there is still agap between evidence and clinical practice. Urgo Laboratories proposed the Spanish phlebology and Lymphology Chapter the creation of a Spanish andportuguese experts committee the elaboration of an algorithm for diagnosis and treatment and early referral oflower extremity ulcers. a systematic review was performed, considering the current clinical practice guidelines. the algorithm was designed on a simple alphabetic mnemonic rule aiming to easily memorize the key points andmost relevant issues of the diagnosis and treatment of these ulcers.all necessary steps from primary care nurses and physicians to Vascular Surgery were considered. With the alphabetletters from a to F in Spanish, all key points were summed up. to confirm ulcer diagnosis (asegurar el diagnóstico dela úlcera), best local treatment, compressive therapy, preventive treatment after healing (tratamiento preventivo derecidiva después de la cicatrización de la úlcera), surgical strategy (estrategia quirúrgica) and pharmacological strategy(estrategia farmacológica).an accurate diagnosis, a clinical practice according to the clinical practice guidelines and an early referral to thespecialist in order to determine if there is a surgical or interventional strategy are essential to effective resolutionand reduction of ulcer healing time, and finally to prevent its recurrence.(AU)

The development of a clinical algorithm for the diagnosis of tumours in the parapharyngeal space. A systematic review.

INTRODUCTION: Parapharyngeal space (PPS) is defined as a deep space, located around the upper pharynx, in the shape of an inverted pyramid. Primary tumours in this region are rare, accounting for 0.5% of head and neck neoplasms, and most are benign. The objective of this study is to propose a new study algorithm based on a systematic review and our experience. MATERIALS AND METHODS: A cross-sectional and analytical study was carried out through review of the clinical records of our hospital. Patients with tumours of the parapharyngeal space operated from January 2010 to December 2019 and a systematic review of Pubmed studies from the last 5 years were included. We considered clinical signs, diagnostic methods, presumptive diagnosis and histopathological findings. Statistical analysis was performed with STATA v.14 software. RESULTS: 53 of our cases and 1392 from the review were included. The clinical algorithm showed a sensitivity of 76.4% and a specificity of 96.3%, with an AUC of 0.57 for diagnosis. DISCUSSION: Complementary radiological examinations are essential in the topographic diagnosis of the tumour. Angio-MRI links the tissue of origin of the tumours and provides the highest diagnostic certainty. FNA has some disadvantages in PPS, but it is useful in some patients. CONCLUSION: The proposed algorithm contributes to obtaining excellent results in the management of these tumours because it turned out to be effective in diagnosis, and this enables improved surgical planning.

Desarrollo de algoritmo clínico para el diagnóstico de tumores del espacio parafaríngeo. Revisión sistemática / The development of a clinical algorithm for the diagnosis of tumours in the parapharyngeal space. A systematic review

Introducción: El espacio parafaríngeo (EPF) es definido como un espacio profundo, situado alrededor de la faringe superior, con forma de pirámide invertida. Los tumores primarios de esta región son poco frecuentes, representando el 0,5% de las neoplasias de la cabeza y el cuello, y la mayoría son benignos. El objetivo de este trabajo es proponer un nuevo algoritmo de estudio basado en una revisión sistemática y en nuestra experiencia. Material y método: Se realizó un trabajo transversal y analítico a través de la revisión de historias clínicas de nuestro hospital. Se incluyeron pacientes con tumores del espacio parafaríngeo operados desde enero de 2010 a diciembre de 2019 con revisión en Pubmed de estudios de los últimos 5años. Tuvimos en cuenta signos clínicos, métodos diagnósticos, diagnóstico presuntivo y hallazgos histopatológicos. El análisis estadístico se realizó con el software STATA v.14. Resultados: Se incluyeron 53 casos nuestros y 1.392 de la revisión. El algoritmo clínico mostró una sensibilidad del 76,4% y una especificidad del 96,3%, con una AUC de 0,57 para el diagnóstico. Discusión: Los exámenes radiológicos complementarios son imprescindibles en el diagnóstico topográfico del tumor. La angio-RNM vincula el tejido de origen de los tumores y aporte la mayor certeza diagnóstica. La PAAF tiene algunas desventajas en EPF, pero es útil en algunos pacientes. Conclusión: El algoritmo propuesto contribuye a obtener resultados excelentes en el manejo de estos tumores debido a que resultó ser eficaz en el diagnóstico, y ello permite mejorar la planificación quirúrgica.(AU)

Introduction: Parapharyngeal space (PPS) is defined as a deep space, located around the upper pharynx, in the shape of an inverted pyramid. Primary tumours in this region are rare, accounting for 0.5% of head and neck neoplasms, and most are benign. The objective of this study is to propose a new study algorithm based on a systematic review and our experience. Materials and methods: A cross-sectional and analytical study was carried out through review of the clinical records of our hospital. Patients with tumours of the parapharyngeal space operated from January 2010 to December 2019 and a systematic review of Pubmed studies from the last 5years were included. We considered clinical signs, diagnostic methods, presumptive diagnosis and histopathological findings. Statistical analysis was performed with STATA v.14 software. Results: 53 of our cases and 1392 from the review were included. The clinical algorithm showed a sensitivity of 76.4% and a specificity of 96.3%, with an AUC of 0.57 for diagnosis. Discussion: Complementary radiological examinations are essential in the topographic diagnosis of the tumour. Angio-MRI links the tissue of origin of the tumours and provides the highest diagnostic certainty. FNA has some disadvantages in PPS, but it is useful in some patients. Conclusion: The proposed algorithm contributes to obtaining excellent results in the management of these tumours because it turned out to be effective in diagnosis, and this enables improved surgical planning.(AU)

Instrumentos para la investigación de la muerte súbita cardiovascular / Tools for the study of sudden cardiovascular death

Introducción: La mitad de las muertes cardiovasculares son debidas a una de las manifestaciones de mayor impacto y significación dentro de la enfermedad isquémica del corazón: la muerte súbita cardiovascular. Objetivo: Describir el Algoritmo Diagnóstico y el Modelo de Recolección del Dato Primario utilizados como instrumentos para la investigación de la muerte súbita cardiovascular en Cuba. Métodos: Se presenta un Algoritmo Diagnóstico con la metodología para el estudio de los casos de muerte súbita cardiovascular y un Modelo de Recolección del Dato Primario con las principales variables sociodemográficas, clínicas y anatomo-patológicas. Resultados: El Grupo de Investigación en Muerte Súbita ha desarrollado, en un periodo de 25 años (1995-2020), investigaciones científicas con la aplicación del Algoritmo Diagnóstico y el empleo del Modelo de Recolección del Dato Primario. De las 33 718 muertes naturales estudiadas mediante estos instrumentos, se han documentado 2252 decesos súbitos, lo que representa el 6,6 por ciento de la mortalidad global registrada. Conclusiones: Se hace necesario por los colectivos de investigación disponer de instrumentos que permitan ejecutar estudios poblacionales sobre la muerte súbita cardiovascular, considerando que el 90 por ciento de los eventos anualmente sobreviene en este grupo(AU)

Introduction: Half of all cardiovascular deaths are due to sudden cardiovascular death, one of the manifestations with the greatest impact and significance in the realm of ischemic heart disease. Objective: Describe the Diagnostic Algorithm and the Primary Data Collection Model used as tools to study sudden cardiovascular death in Cuba. Methods: A presentation is made of a Diagnostic Algorithm for the study of sudden cardiovascular death cases accompanied by the corresponding methodology, and a Primary Data Collection Model with the main sociodemographic, clinical and anatomopathological variables. Results: The Sudden Death Research Team has used the Diagnostic Algorithm and Primary Data Collection Model herein presented as a scientific research tool for a period of 25 years (1995-2020). Of the 33 718 deaths by natural causes studied with these tools, 2 252 have been sudden, representing 6.6 percent of the overall mortality recorded. Conclusions: Research teams should have access to tools for the conduct of population studies about sudden cardiovascular death, considering that 90 percent of the events recorded annually occur in this risk group(AU)

La biopsia cutánea en la urticaria crónica: cuándo realizarla, qué buscar y dónde hacerlo / Skin Biopsy in Chronic Urticaria: When and Where and What to Look for?

La urticaria crónica es una entidad relativamente frecuente en la práctica clínica habitual, cuyo diagnóstico se establece de forma clínica. Sin embargo, existen ocasiones en las que está indicada la realización de una biopsia cutánea para confirmar el diagnóstico y diferenciarla de otras patologías que pueden cursar con erupciones urticariformes. En este trabajo revisamos los hallazgos histopatológicos que podemos encontrar tanto en la urticaria crónica como en las patologías que plantean un diagnóstico diferencial. Con base en ello, proponemos un algoritmo que recoge las indicaciones para realizar una biopsia cutánea y la orientación del diagnóstico en función de los hallazgos histopatológicos que encontremos en la misma (AU)

Chronic urticaria is a relatively common condition in dermatology and is usually diagnosed on clinical grounds. Skin biopsy, however, may be indicated in certain cases to confirm diagnosis and rule out other conditions that can cause hive-like rashes. We review histopathologic findings seen in both chronic urticaria and other entities in the differential diagnosis. We then propose an algorithm of indications for skin biopsy in patients with hive-like rashes and suggest possible diagnoses based on the histopathologic findings (AU)

The development of a clinical algorithm for the diagnosis of tumours in the parapharyngeal space. A systematic review. / Desarrollo de algoritmo clínico para el diagnóstico de tumores del espacio parafaríngeo. Revisión sistemática.

INTRODUCTION: Parapharyngeal space (PPS) is defined as a deep space, located around the upper pharynx, in the shape of an inverted pyramid. Primary tumours in this region are rare, accounting for 0.5% of head and neck neoplasms, and most are benign. The objective of this study is to propose a new study algorithm based on a systematic review and our experience. MATERIALS AND METHODS: A cross-sectional and analytical study was carried out through review of the clinical records of our hospital. Patients with tumours of the parapharyngeal space operated from January 2010 to December 2019 and a systematic review of Pubmed studies from the last 5years were included. We considered clinical signs, diagnostic methods, presumptive diagnosis and histopathological findings. Statistical analysis was performed with STATA v.14 software. RESULTS: 53 of our cases and 1392 from the review were included. The clinical algorithm showed a sensitivity of 76.4% and a specificity of 96.3%, with an AUC of 0.57 for diagnosis. DISCUSSION: Complementary radiological examinations are essential in the topographic diagnosis of the tumour. Angio-MRI links the tissue of origin of the tumours and provides the highest diagnostic certainty. FNA has some disadvantages in PPS, but it is useful in some patients. CONCLUSION: The proposed algorithm contributes to obtaining excellent results in the management of these tumours because it turned out to be effective in diagnosis, and this enables improved surgical planning.

El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD): III) Marcadores bioquímicos y genéticos en los 46,XY IV) Propuestas para el diagnóstico diferencial de los DSD.

Objetivos: El desarrollo sexual anómalo o diferente (DSD) con cariotipo 46,XY incluye anomalías en el desarrollo gonadal y/o genital (externo y/o interno). Contenido: Los marcadores bioquímicos útiles para el diagnóstico diferencial de los DSD con cariotipo 46,XY incluyen las hormonas del eje hipotálamo-hipófiso gonadal como son las gonadotropinas LH y FSH (en condiciones basales o tras la estimulación con LHRH), la hormona anti-Mülleriana, la inhibina B, el factor insulinoide tipo 3 y las hormonas esteroideas de origen suprarrenal (se incluirá la hormona hipofisaria ACTH) y testicular (cortisol, aldosterona y sus precursores, testosterona y sus precursores, dihidrotestosterona y estradiol). Las hormonas esteroideas se analizarán en condiciones basales o tras la estimulación con ACTH (hormonas adrenales) y/o con HCG (hormonas testiculares). Los patrones de variación de las distintas hormonas dependerán de la causa y la edad de cada paciente. El diagnóstico molecular debe incluir el análisis de un gen candidato, un panel de genes o el análisis de un exoma completo. Perspectivas: El diagnóstico diferencial de los DSD con cariotipos 46,XX ó 46,XY debe ser multidisciplinar, incluyendo los antecedentes clínicos, morfológicos, de imagen, bioquímicos y genéticos. Se han elaborado numerosos algoritmos diagnósticos.

Skin Biopsy in Chronic Urticaria: When and Where and What to Look for? / La biopsia cutánea en la urticaria crónica: cuándo realizarla, qué buscar y dónde hacerlo.

Chronic urticaria is a relatively common condition in dermatology and is usually diagnosed on clinical grounds. Skin biopsy, however, may be indicated in certain cases to confirm diagnosis and rule out other conditions that can cause hive-like rashes. We review histopathologic findings seen in both chronic urticaria and other entities in the differential diagnosis. We then propose an algorithm of indications for skin biopsy in patients with hive-like rashes and suggest possible diagnoses based on the histopathologic findings.

Diagnóstico temprano de enfermedad de gaucher mediante detección de manifestaciones óseas / Early diagnosis of Gaucher disease based on bone symptoms

Resumen La enfermedad de Gaucher (EG) es causada por una deficiencia genética de la glucocerebrosidasa (GCasa) que provoca acumulación de glucocerebrósido en hígado, bazo y médula ósea. La terapia temprana de reemplazo enzimático revierte citopenias, visceromegalias y previene lesiones óseas irreversibles, por lo cual el diagnóstico precoz es fundamental. Los algoritmos diagnósticos en uso apuntan a manifestaciones hematológicas clásicas. Los síntomas óseos están presentes en 25-32% de los pacientes pero no suelen despertar sospecha de EG. Diseñamos un programa educativo sobre la afectación ósea de la EG y un algoritmo focalizado en la presentación con manifestaciones óseas para facilitar su diagnóstico precoz (proyecto BIG: Bone Involvement in Gaucher Disease). El objetivo del trabajo es describir el proyecto BIG y los resultados de su aplicación en nuestra consulta. Entre marzo de 2017 y diciembre de 2018 se recibieron 38 muestras de sangre seca de pacientes con alguna manifestación ósea sospechosa de EG para cuantificar la actividad de GCasa. Una muestra no cumplía los criterios de inclusión y en 3 de las 37 restantes se observó actividad deficiente de GCasa. El diagnóstico de EG se confirmó por medición de GCasa en leucocitos en dos niñas con manifestaciones óseas de 4 y 2 años de evolución, respectivamente, sin citopenia ni visceromegalia clínicamente evidentes. En el otro paciente con baja actividad la medición en leucocitos fue normal. Los casos detectados muestran la efectividad de un programa educacional de difusión y la utilidad de un algoritmo de detección precoz basado en síntomas óseos que facilitaría el diagnóstico de EG.

Abstract Gaucher disease (GD) is caused by a genetic deficiency of the lysosomal enzyme glucocerebrosidase (GCase) leading to the accumulation of glucocerebroside in the liver, spleen, and bone marrow. The early diagnosis allows a prompt enzyme replacement therapy reversing cytopenias and visceromegaly and preventing irreversible bone lesions. Current diagnostic algorithms are based on well-recognized hematological manifestations. Although bone symptoms are present in 25-32% of the patients, they are not usually suspected as associated with Gaucher disease at clinical presentation. We designed an educational program aimed to give advice on the skeletal involvement in GD and a new diagnostic algorithm that considers bone symptoms to facilitate its early diagnosis (BIG project: Bone Involvement in Gaucher Disease). The study aims at describing the BIG project and the results of its application in our clinic in various cities in Argentina. Within the frame of this project, between March 2017 and December 2018, 38 dry blood spot samples from patients with bone manifestations suspected of having GD were submitted to quantification of GCase activity. One sample did not meet the inclusion criteria. Deficient GCase activity was detected in three of the remaining 37 samples. The diagnosis of GD was confirmed in two girls who presented bone manifestations of 4 and 2 years of evolution, respectively, without hematological alterations. The third patient with low enzyme activity had normal leukocyte GCase. The two newly diagnosed cases of GD show the efficacy of our dual strategy aimed to facilitate the early diagnosis of this rare disease.

Biomarcadores en las neoplasias mieloproliferativas clásicas BCR-ABL1 negativas / Biomarkers in Classical Myeloproliferative Neoplasms BCR-ABL1 negative

Introducción: Los biomarcadores son útiles en la definición del diagnóstico, pronóstico y seguimiento de múltiples enfermedades. La detección o medición de uno o más biomarcadores específicos representan alteraciones en vías genéticas o epigenéticas que controlan la proliferación, diferenciación o muerte celular. Las neoplasias mieloproliferativas constituyen un grupo fenotípicamente diverso de hemopatías malignas de origen clonal, caracterizadas por una sobreproducción simple o multilineal de los elementos eritroides, mieloides y megacariocíticos; así como de una marcada predisposición a la trombosis, sangramiento y transformación leucémica. Dentro de ellas se incluyen: la policitemia vera, la trombocitemia esencial y la mielofibrosis primaria, conocidas como neoplasias mieloproliferativas clásicas BCR-ABL1 (o cromosoma Philadelfia) negativas. Las mutaciones somáticas en genes como JAK2, MPL y CARL se comportan como mutaciones drivers iniciadoras, responsables del fenotipo mieloproliferativo. Métodos: Se revisaron artículos relacionados publicados en los últimos años, en algunas bases de datos de la Biblioteca Virtual de Salud. En esta revisión se exponen los mecanismos moleculares generales de esas mutaciones y su expresión clínica; se hace referencia a las neoplasias mieloproliferativas triple negativas y sus implicaciones clínicas y se indica el algoritmo diagnóstico propuesto por la Organización Mundial de la Salud que incluye los nuevos biomarcadores. Conclusiones: El estudio molecular proporciona información valiosa para el diagnóstico y seguimiento de las neoplasias mieloprolifrativas, pero no logra diferenciar entre cada una de ellas. Por esto, se requiere de la adecuada aplicación del método clínico para llegar a un diagnóstico certero con ayuda de otros exámenes complementarios(AU)

Introduction: Biomarkers are useful in the definition of diagnosis, prognosis and monitoring of multiple diseases. The detection or measurement of one or more specific biomarkers represents alterations in genetic or epigenetic pathways that control proliferation, differentiation or cell death. The myeloproliferative neoplasms constitute a phenotypically diverse group of malignant hemopathies of clonal origin, characterized by a simple or multilinear overproduction of the erythroid, myeloid and megakaryocytic elements; as well as a marked predisposition to thrombosis, bleeding and leukemic transformation. These include: polycythemia vera, essential thrombocythemia, and primary myelofibrosis, known as classical negative myeloproliferative neoplasms BCR-ABL1 (or Philadelphia chromosome). Somatic mutations in genes such as JAK2, MPL and CARL behave as initiating driver mutations responsible for the myeloproliferative phenotype. Methods: Articles published in the last years were reviewed in some databases of the Virtual Health Library (VHL). In this review we expose the general molecular mechanisms of these mutations and their clinical expression; reference is made to the triple negative myeloproliferative neoplasms and their clinical implications and the diagnostic algorithm proposed by the World Health Organization that includes the new biomarkers is indicated. Conclusions: The molecular study provides valuable information for the diagnosis and monitoring of myeloproliferative neoplasms, but fails to differentiate between each of them. Therefore, the appropriate application of the clinical method is required to arrive at an accurate diagnosis with the help of other complementary tests(AU)

Diagnóstico por citometría de flujo de la hemoglobinuria paroxística nocturna / Diagnosis of paroxysmal nocturnal hemoglobinuria by flow cytometry

Introducción: La hemoglobinuria paroxística (HPN) nocturna es una enfermedad clonal, adquirida y no maligna de la célula madre hematopoyética. En este padecimiento se encuentra afectado el anclaje a la membrana celular de moléculas como el CD55 y CD59, fundamentales en la regulación de la lisis mediada por el complemento. Por su elevada especificidad y sensibilidad, la citometría de flujo multiparamétrica (CFM) es el método de elección para el diagnóstico de esta enfermedad. Objetivo: Establecer un algoritmo diagnóstico de la HPN por CMF. Métodos: Se analizó una muestra de sangre periférica para CFM de un paciente con sospecha de HPN. El inmunofenotipaje celular se realizó con un panel de anticuerpos monoclonales dirigidos contra los antígenos que se expresan en la membrana citoplasmática mediante su anclaje al glicosilfosfatidilinositol. Las muestras se leyeron en un citómetro GALLIOS, Beckman Coulter y los datos obtenidos se analizaron con el empleo del programa informático Kaluza. Resultados: Se identificaron cuatro clones HPN. En los granulocitos se observó un clon HPN de aproximadamente 90 por ciento, con deficiencia en la expresión de CD16, CD24, CD55 y CD59. En los monocitos se observaron dos clones: (1) clon CD14_CD59_ y (2) clon CD14_CD59+ con tamaños clonales de 59,77 por ciento y 19,45 por ciento, respectivamente. En los eritrocitos se identificó un clon de 19,98 por ciento y de determinó el grado de afectación. Conclusiones: El algoritmo de análisis propuesto permite identificar las poblaciones celulares con clones HPN. Además, dichos clones pueden ser cuantificados en cuanto a tamaño clonal y expresividad de los antígenos dependientes de anclaje a glicosilfosfatidilinositol. Con la CFM se logra determinar con elevada sensibilidad el grado de afectación de los eritrocitos en la expresión de CD59 como medida directa de la susceptibilidad que experimentan a la lisis por el complemento(AU)

Introduction: The paroxysmal nocturnal hemoglobinuria (PNH) is a clonal, acquired disease and not malignant hematopoietic stem cell. In this condition, the anchor to the cell membrane of molecules such as the CD55 and CD59 is affected, This antigens are fundamental in the regulation of the complement-mediated lysis. By its high specificity and sensitivity multiparametric flow cytometry (MFC) is the goal standard for the diagnosis of this disease. Objective: To establish a diagnosis of PNH by MFC algorithm. Methods: A sample of peripheral blood of a patient with suspicion of PNH was analyzed by MFC. The cell immunophenotyping was carried out using a panel of monoclonal antibodies directed against antigens that are expressed in the cytoplasmic membrane through its the glycosylphosphatidylinositol anchor. The samples were read in a Cytometer GALLIOS, Beckman Coulter and the data obtained were analyzed with the use of the Kaluza software. Results: We identified four clones HPN. A HPN clone of approximately 90 percent, was observed in granulocytes with deficiency in the expression of CD16, CD24, CD55, CD59. In the monocytes were two clones: (1) CD14-CD59- clone and (2) CD14-CD59 + clone, with size clone of 59.77 percent and 19.45 percent, respectively. A clone of 19.98 percent was identified in erythrocytes and determined the degree of involvement of the same. Conclusions: The proposed analysis algorithm allows to identify cellular populations with clones PNH. In addition, these clones can be quantified in terms of size clonal and expressiveness of anchor to glycosylphosphatidylinositol antigen dependent. With the MFC is achieved with high sensitivity to determine the degree of involvement of the erythrocytes in the expression of CD59 as a direct measure of susceptibility undergoing lysis by complement(AU)

Escala LRINEC en la Fascitis necrosante. ¿Una herramienta diagnóstica útil? / LRINEC scale in necrotizing fasciitis. A useful diagnostic tool?

Introducción: El diagnóstico de fascitis necrosante es muy difícil y precisa un alto grado de sospecha clínica. Debido a la complejidad para diagnosticar esta entidad, en 2004, Wong propone un algoritmo diagnóstico basado en parámetros de laboratorio (escala LRINEC: Laboratory Risk Indicator for Necrotizing Fascitis). Objetivo: Demostrar la utilidad diagnóstica de la escala LRINEC en la fascitis necrosante. Material y Método: Se diseña un estudio prospectivo y descriptivo, tipo serie de casos, en 28 pacientes atendidos en el Servicio de Ortopedia y Traumatología del Hospital General Docente Julio Arístegui Villamil con el diagnóstico de fascitis necrosante, en el período comprendido entre enero de 2000 y junio de 2015. Se calcula el índice LRINEC (Laboratory Risk Indicator for Necrotizing Fascitis), para predecir el riesgo de la enfermedad. Resultado: El índice LRINEC mostró una estratificación de riesgo intermedio (6-7). En los pacientes que sobrevivieron se encontraron menores valores de Proteína C reactiva que los fallecidos (t=9,7). Los pacientes del estudio que fallecieron presentaron niveles de hemoglobina menores que los supervivientes (t=8,5) y valores de creatinina mayores (t=5,5). La media del recuento de leucocitos en ambos grupos se encontró por debajo de 15x109 cels/µl. El área bajo la curva ROC fue de 0,607 (IC95 por ciento=0,47-0,73) para el Score LRINEC de este estudio. El punto de corte tuvo una sensibilidad de 66 por ciento y una especificidad de 75 por ciento. Conclusiones: La escala LRINEC es una herramienta útil cuando se sospecha una fascitis necrosante, pero se suele requerir información adicional para confirmar el diagnóstico(AU)

Introduction: The diagnosis of necrotizing fasciitis is very difficult to make, and requires a high degree of clinical suspicion. Because of the complexity of the diagnosis of this entity, Wong proposed an algorithm based on laboratory parameters in 2004 (LRINEC scale: Laboratory Risk Indicator for Necrotizing Fascitis). Objective: To demonstrate the diagnostic utility of LRINEC scale in necrotizing fasciitis. Material and Method: A descriptive prospective case series study was designed in 28 patients treated in the Department of Orthopedics and Traumatology of the General Teaching Hospital Julio Arístegui Villamil with the diagnosis of necrotizing fasciitis, from January 2000 to June 2015. LRINEC (Laboratory Risk Indicator for Necrotizing Fascitis) score is calculated to predict risk of the disease. Results:LRINEC score showed an intermediate risk stratification (6-7). In the patients that survived, lower C-reactive protein levels than the ones in the deceased patients were found (t=9,7). The patients who were included in the study and died presented lower levels of hemoglobin than the ones who survived (t=8,5), and higher values of creatinine (t=5,5). The average value of leukocytes recount in both groups was below 15x109 cels/µl. The area under the ROC curve was 0,607 (IC95 percent=0,47-0,73) for the LRINEC Score in this study. The cutoff point had a sensitivity of 66 percent and a specificity of 75 percent. Conclusions: LRINEC scale is a useful tool when a necrotizing fasciitis is suspected, but additional information is usually required to confirm the diagnosis(AU)

75SeHCAT scan in bile acid malabsorption in chronic diarrhoea. / Gammagrafía con 75SeHCAT en la diarrea crónica por malabsorción de ácidos biliares.

Chronic diarrhoea is a common entity in daily clinical practice and it leads to a loss in these patients quality of life. It may be the main symptom of multiple ethiologies including bile acid malabsorption (BAM) which has a comparable prevalence to celiac disease. The BAM results from imbalances in the homeostasis of bile acids in the enterohepatic circulation. It can be a consequence of ileal disease or ileal dysfunction (BAM type i), it can be considered idiopathic or primary (BAM type ii) or associated with other gastrointestinal entities (BAM type iii). Among the different diagnostic methods available, 75SeHCAT study is the primary current method due to its sensitivity, specificity, safety and low cost. The main disadvantage is that it's not available in all countries, so other diagnostic methods have appeared, such as serum measurement of FGF19 and C4, however they are significantly more complex and costly. The first-line treatment of bile acid diarrhoea is bile acid sequestrant, such as cholestyramine, which can be difficult to administer due to its poor tolerability and gastrointestinal side effects. These are less prominent with newer agents such as colesevelam. In summary, the BAM is a common entity underdiagnosed and undertreated, so it is essential to establish a diagnosis algorithm of chronic diarrhoea in which the 75SeHCAT study would be first or second line in the differential diagnosis of these patients.

Bone scintigraphy as cornerstone in the diagnosis of Erdheim-Chester disease.

The Erdheim-Chester disease (ECD) is an extremely rare form of non-Langerhans cell histiocytosis. The main difficulty for its diagnosis lies in the wide variety of non-specific symptoms and signs that can occur in the disease process, leading, therefore, to there being no clear-cut algorithm as a guide for an optimal biopsy to confirm the diagnosis. An 81-year-old male with history of diabetes insipidus was admitted due to non-specific respiratory signs. Imaging techniques revealed osteoblastic lesions in the lumbar spine. Whole-body bone-scintigraphy (BS) was performed, in which lesions involving the axial and appendicular skeleton, with different rates of osteoblastic activity, were observed. This highlighted a symmetrical severely intense uptake in the knees, leading to an accurate biopsy specimen that enabled making the definitive diagnosis. BS is a widely available, safe, and inexpensive technique that shows a characteristic pattern of uptake for ECD, thus its use is highly recommended for screening and guiding biopsy if clinical suspicion exists. Furthermore, when the scintigraphy pattern is incidentally observed, biopsy of increased uptake areas (tibia preferably) is mandatory in order to rule out the disease.

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain]. / Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España.

BACKGROUND AND OBJECTIVE: Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this study was to analyse our whole group of patients in order to create an algorithm to facilitate the routine molecular diagnosis of BBS. We also calculated several epidemiological parameters in our cohort. PATIENTS AND METHOD: We analysed 116 BBS patients belonging to 89 families from the whole Spanish geography. All probands fulfilled diagnosis criteria established for BBS. For this, we used: genotyping microarray, direct sequencing and homozygosis mapping (in consanguineous families). RESULTS: By means of the different approaches, it was possible to diagnose 47% of families (21% by genotyping microarray, 18% by direct sequencing of predominant BBS genes, and 8% by homozygosis mapping). With regard to epidemiological data, a prevalence value of 1:407,000 was obtained for BBS in Spain, and a sex ratio of 1.4:1 (men:women). CONCLUSIONS: The proposed algorithm, based on the analysis of predominant BBS genes combined with homozygosis mapping, allowed us to confirm the molecular diagnosis in a significant percentage of families with clinically suspected BBS. This diagnostic algorithm will be useful for the improvement of the efficiency of molecular analysis in BBS.

Probability scores and diagnostic algorithms in pulmonary embolism: are they followed in clinical practice?

INTRODUCTION: Clinical probability scores (CPS) determine the pre-test probability of pulmonary embolism (PE) and assess the need for the tests required in these patients. Our objective is to investigate if PE is diagnosed according to clinical practice guidelines. MATERIALS AND METHODS: Retrospective study of clinically suspected PE in the emergency department between January 2010 and December 2012. A D-dimer value ≥ 500 ng/ml was considered positive. PE was diagnosed on the basis of the multislice computed tomography angiography and, to a lesser extent, with other imaging techniques. The CPS used was the revised Geneva scoring system. RESULTS: There was 3,924 cases of suspected PE (56% female). Diagnosis was determined in 360 patients (9.2%) and the incidence was 30.6 cases per 100,000 inhabitants/year. Sensitivity and the negative predictive value of the D-dimer test were 98.7% and 99.2% respectively. CPS was calculated in only 24 cases (0.6%) and diagnostic algorithms were not followed in 2,125 patients (54.2%): in 682 (17.4%) because clinical probability could not be estimated and in 482 (37.6%), 852 (46.4%) and 109 (87.9%) with low, intermediate and high clinical probability, respectively, because the diagnostic algorithms for these probabilities were not applied. CONCLUSIONS: CPS are rarely calculated in the diagnosis of PE and the diagnostic algorithm is rarely used in clinical practice. This may result in procedures with potential significant side effects being unnecessarily performed or to a high risk of underdiagnosis.

Hipertensión pulmonar en las enfermedades respiratorias crónicas: Prueba de marcha de 6 minutos: técnica y utilidad en el diagnóstico funcional, pronóstico y seguimiento

Las enfermedades respiratorias crónicas pueden ser causa de hipertensión pulmonar (HP). La clasificación actual de HP incluye a estas enfermedades en el grupo 3 como HP debida a enfermedad pulmonar y/o hipoxia. Esta causa de HP es responsable de alrededor del 10% de todas las hipertensiones pulmonares. En general la HP suele ser de grado moderado, aunque un porcentaje pequeño pueden tener HP severa. En los estadios avanzados de las enfermedades es mayor la prevalencia de HP. El diagnóstico de patología pulmonar y/o hipoxia se realiza mediante la historia clínica y la ayuda de exámenes complementarios, fundamentalmente pruebas de función pulmonar, diagnóstico por imágenes, en especial tomografía axial computada de alta resolución y centellograma de ventilación perfusión como prueba de screening de la hipertensión arterial pulmonar (HAP) debida a tromboembolismo pulmonar crónico (grupo 4). La utilización de un algoritmo adecuado permite a través de las pruebas de función pulmonar arribar a diagnósticos fisiopatológicos de gran exactitud. Ante la sospecha de HP, por otro lado, la utilización de pruebas de detección, identificación de grupo, evaluación de la capacidad de ejercicio y cateterismo cardíaco permite discriminar entre los diferentes grupos y arribar a un diagnóstico adecuado. La prueba de marcha de 6 minutos es uno de los elementos imprescindibles en la evaluación de la HP; no solamente para realizar comparaciones pre y post tratamiento, sino también para evaluar la capacidad funcional y como predictor de morbilidad y mortalidad. Su realización requiere observar las guías disponibles, respetando las contraindicaciones absolutas y relativas y siguiendo los procedimientos establecidos a nivel internacional. Con los datos obtenidos deben expresar la distancia recorrida, la presencia o no de desaturación durante la misma, la evaluación del esfuerzo percibido (escala de Borg), el motivo de detención y la frecuencia cardíaca. Estos datos forman parte de la predicción de morbi-mortalidad y son un factor pronóstico de la enfermedad. La prueba de marcha de 6 minutos forma parte además de los estudios de seguimiento en cada una de las etapas del manejo clínico de la HAP.

Pulmonary hypertension in chronic respiratory diseases The 6-minute walk test: technical and utility in functional diagnosis, prognosis and monitoring Lung diseases can cause pulmonary hypertension (PH). The current classification of PH includes these diseases in group 3 as PH due to lung disease and/or hypoxia. This cause of PH is responsible for about 10% of all PH. Generally, the PH is often of moderate degree although a small percentage may have severe pulmonary hypertension. In the advanced stages of the disease is higher prevalence of PH. The diagnosis of lung disease and/or hypoxia is made by clinical history and complementary exams help mainly pulmonary function tests, diagnostic imaging, especially computed tomography high resolution and ventilation perfusion scintigraphy as a screening test for pulmonary arterial hypertension (PAH) due to chronic pulmonary thromboembolism (group 4). The use of an adequate algorithm allows through pulmonary function tests arrive at diagnoses pathophysiological great accuracy. Moreover, suspecting PH, the use of screening tests, group identification, assessment of exercise capacity and cardiac catheterization allows discriminating between different groups and arriving at a proper diagnosis. The 6-minute walk test is one of the essential elements in the assessment of PH, not only for comparison before and after treatment, but also to evaluate the functional capacity and as a predictor of morbidity and mortality. Its implementation requires observing guides available, respecting the absolute and relative contraindications and following established procedures worldwide. The data obtained should express the distance walked, the presence or absence of desaturation during it the evaluation perceived effort (Borg scale), the reason for arrest and heart rate. These data are part of the prediction of morbidity and mortality and are a prognostic factor the disease. The 6-minute walk test is also part of ...

Hipertensão pulmonar nas doenças respiratórias crônicas Teste de caminhada de 6 minutos: técnica e utilidade no diagnóstico funcional, prognóstico e monitorização As doenças pulmonares podem ser causa de hipertensão pulmonar (HP). A classificação atual da hipertensão pulmonar inclui a essas doenças no grupo 3, como HP devida a doença pulmonar e/ou hipóxia. Esta causa de HP é responsável torno de 10% de todas as hipertensões pulmonares. Em geral, a HP é frequentemente de grau moderado, embora uma pequena percentagem possa ter HP severa. Nos estágios avançados da doença é maior a prevalência de HP. O diagnóstico de doença pulmonar e/ou hipóxia é feito pela história clínica e apoio de exames complementares, fundamentalmente testes de função pulmonar, diagnóstico por imagem, especialmente tomografia computadorizada de alta resolução e cintilografia de ventilação perfusão como teste de triagem para a hipertensão arterial pulmonar (HAP), devido ao tromboembolismo pulmonar crônico (grupo 4). A utilização de um algoritmo adequado permite que por meio de testes de função pulmonar chegar a diagnósticos fisiopatológicos de grande exatidão. Suspeitando HP, por outro lado, a utilização de testes de triagem, identificação do grupo, avaliação da capacidade de exercício e cateterismo cardíaco permite discriminar entre os diferentes grupos e chegar a um diagnóstico adequado. O teste de caminhada de 6 minutos é um dos elementos essenciais para a avaliação do PH, não só para a comparação antes e após o tratamento, mas também para avaliar a capacidade funcional e como preditor de morbidade e mortalidade. A sua aplicação requer observando guias disponíveis, respeitando as contra-indicações absolutas e relativas e seguindo os procedimentos estabelecidos em todo o mundo. Os dados obtidos devem expressar a distância percorrida, a presença ou ausência de dessaturação durante a mesma, a avaliação da percepção subjetiva de esforço (escala de Borg), o motivo da parada do teste e a frequência cardíaca. Estes dados fazem parte da previsão de morbidade e mortalidade e é um fator prognóstico da doença. O teste de caminhada de 6 minutos também faz parte dos estudos de monitoramento em cada uma das etapas do manejo clínico de HAP.

Hipertensión pulmonar en las enfermedades respiratorias crónicas: Prueba de marcha de 6 minutos: técnica y utilidad en el diagnóstico funcional, pronóstico y seguimiento

Las enfermedades respiratorias crónicas pueden ser causa de hipertensión pulmonar (HP). La clasificación actual de HP incluye a estas enfermedades en el grupo 3 como HP debida a enfermedad pulmonar y/o hipoxia. Esta causa de HP es responsable de alrededor del 10% de todas las hipertensiones pulmonares. En general la HP suele ser de grado moderado, aunque un porcentaje pequeño pueden tener HP severa. En los estadios avanzados de las enfermedades es mayor la prevalencia de HP. El diagnóstico de patología pulmonar y/o hipoxia se realiza mediante la historia clínica y la ayuda de exámenes complementarios, fundamentalmente pruebas de función pulmonar, diagnóstico por imágenes, en especial tomografía axial computada de alta resolución y centellograma de ventilación perfusión como prueba de screening de la hipertensión arterial pulmonar (HAP) debida a tromboembolismo pulmonar crónico (grupo 4). La utilización de un algoritmo adecuado permite a través de las pruebas de función pulmonar arribar a diagnósticos fisiopatológicos de gran exactitud. Ante la sospecha de HP, por otro lado, la utilización de pruebas de detección, identificación de grupo, evaluación de la capacidad de ejercicio y cateterismo cardíaco permite discriminar entre los diferentes grupos y arribar a un diagnóstico adecuado. La prueba de marcha de 6 minutos es uno de los elementos imprescindibles en la evaluación de la HP; no solamente para realizar comparaciones pre y post tratamiento, sino también para evaluar la capacidad funcional y como predictor de morbilidad y mortalidad. Su realización requiere observar las guías disponibles, respetando las contraindicaciones absolutas y relativas y siguiendo los procedimientos establecidos a nivel internacional. Con los datos obtenidos deben expresar la distancia recorrida, la presencia o no de desaturación durante la misma, la evaluación del esfuerzo percibido (escala de Borg), el motivo de detención y la frecuencia cardíaca. Estos datos forman parte de la predicción de morbi-mortalidad y son un factor pronóstico de la enfermedad. La prueba de marcha de 6 minutos forma parte además de los estudios de seguimiento en cada una de las etapas del manejo clínico de la HAP.(AU)

Pulmonary hypertension in chronic respiratory diseases The 6-minute walk test: technical and utility in functional diagnosis, prognosis and monitoring Lung diseases can cause pulmonary hypertension (PH). The current classification of PH includes these diseases in group 3 as PH due to lung disease and/or hypoxia. This cause of PH is responsible for about 10% of all PH. Generally, the PH is often of moderate degree although a small percentage may have severe pulmonary hypertension. In the advanced stages of the disease is higher prevalence of PH. The diagnosis of lung disease and/or hypoxia is made by clinical history and complementary exams help mainly pulmonary function tests, diagnostic imaging, especially computed tomography high resolution and ventilation perfusion scintigraphy as a screening test for pulmonary arterial hypertension (PAH) due to chronic pulmonary thromboembolism (group 4). The use of an adequate algorithm allows through pulmonary function tests arrive at diagnoses pathophysiological great accuracy. Moreover, suspecting PH, the use of screening tests, group identification, assessment of exercise capacity and cardiac catheterization allows discriminating between different groups and arriving at a proper diagnosis. The 6-minute walk test is one of the essential elements in the assessment of PH, not only for comparison before and after treatment, but also to evaluate the functional capacity and as a predictor of morbidity and mortality. Its implementation requires observing guides available, respecting the absolute and relative contraindications and following established procedures worldwide. The data obtained should express the distance walked, the presence or absence of desaturation during it the evaluation perceived effort (Borg scale), the reason for arrest and heart rate. These data are part of the prediction of morbidity and mortality and are a prognostic factor the disease. The 6-minute walk test is also part of ...(AU)

HipertensÒo pulmonar nas doenþas respiratórias cr¶nicas Teste de caminhada de 6 minutos: técnica e utilidade no diagnóstico funcional, prognóstico e monitorizaþÒo As doenþas pulmonares podem ser causa de hipertensÒo pulmonar (HP). A classificaþÒo atual da hipertensÒo pulmonar inclui a essas doenþas no grupo 3, como HP devida a doenþa pulmonar e/ou hipóxia. Esta causa de HP é responsável torno de 10% de todas as hipertens§es pulmonares. Em geral, a HP é frequentemente de grau moderado, embora uma pequena percentagem possa ter HP severa. Nos estágios avanþados da doenþa é maior a prevalÛncia de HP. O diagnóstico de doenþa pulmonar e/ou hipóxia é feito pela história clínica e apoio de exames complementares, fundamentalmente testes de funþÒo pulmonar, diagnóstico por imagem, especialmente tomografia computadorizada de alta resoluþÒo e cintilografia de ventilaþÒo perfusÒo como teste de triagem para a hipertensÒo arterial pulmonar (HAP), devido ao tromboembolismo pulmonar cr¶nico (grupo 4). A utilizaþÒo de um algoritmo adequado permite que por meio de testes de funþÒo pulmonar chegar a diagnósticos fisiopatológicos de grande exatidÒo. Suspeitando HP, por outro lado, a utilizaþÒo de testes de triagem, identificaþÒo do grupo, avaliaþÒo da capacidade de exercício e cateterismo cardíaco permite discriminar entre os diferentes grupos e chegar a um diagnóstico adequado. O teste de caminhada de 6 minutos é um dos elementos essenciais para a avaliaþÒo do PH, nÒo só para a comparaþÒo antes e após o tratamento, mas também para avaliar a capacidade funcional e como preditor de morbidade e mortalidade. A sua aplicaþÒo requer observando guias disponíveis, respeitando as contra-indicaþ§es absolutas e relativas e seguindo os procedimentos estabelecidos em todo o mundo. Os dados obtidos devem expressar a distÔncia percorrida, a presenþa ou ausÛncia de dessaturaþÒo durante a mesma, a avaliaþÒo da percepþÒo subjetiva de esforþo (escala de Borg), o motivo da parada do teste e a frequÛncia cardíaca. Estes dados fazem parte da previsÒo de morbidade e mortalidade e é um fator prognóstico da doenþa. O teste de caminhada de 6 minutos também faz parte dos estudos de monitoramento em cada uma das etapas do manejo clínico de HAP.(AU)