Polyneuropathy as an initial manifestation of Hereditary Transtyretin Amyloidosis (ATTRV) in a young patient: Case report of a diagnostic challenge.

We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.

Factors associated with venous thromboembolic disease due to failed thromboprophylaxis.

INTRODUCTION: Available evidence to identify factors independently associated with failed thromboprophylaxis (FT) in medical patients is insufficient. The present study seeks to evaluate in hospitalized patients, which clinical factors are associated with the development of FT. MATERIALS AND METHODS: A case-control study nested to a historical cohort, comparing patients who developed failed thromboprophylaxis (cases) with those who did not (controls). Univariate and multivariate regression analysis was performed to define the factors associated with FT. RESULTS: We selected 204 cases and 408 controls (52.4% men, median age 63 years). Medical patients were 78.4%. The most frequent thromboprophylaxis scheme was enoxaparin. In the failed thromboprophylaxis group, most of the embolic events corresponded to pulmonary embolism (53.4%). Among cases, BMI was higher (26.3 vs. 25 kg/m2, p < 0.001), as was the proportion of patients with leukocytosis > 13,000 (27% vs. 18.9%, p:0.22), and patients who required intensive care management (48% vs. 24.8%, p < 0.001). Factors independently associated with FT were BMI (OR1.04;95%CI 1.00-1.09, p:0.39), active cancer (OR:1.63;95%IC 1.03-2.57, p:0.04), leukocytosis (OR:1.64;95%CI 1.05-2.57, p:0.03) and ICU requirement (OR:3.67;95%CI 2.31-5.83, p < 0.001). CONCLUSION: Our study suggests that the failed thromboprophylaxis is associated with high BMI, active cancer, leukocytosis, and ICU requirement. Future studies should evaluate whether there is benefit in adjusting the thromboprophylaxis scheme in patients with one or more of these factors.

Factors associated with in-hospital and outpatient survival of patients with different types of stage IV cancer and venous thromboembolism.

OBJECTIVE: To identify factors associated with in-hospital and outpatient survival of patients with different types of stage IV cancer who present with venous thromboembolic disease (VTE). METHODS: In this prospective cohort, in-hospital and outpatient survival rates up to 180 days were analyzed using Kaplan-Meier curves. Cox regression was used to identify factors associated with different survival functions. RESULTS: One hundred patients were analyzed (median age, 67.5 years; 75% with Charlson index of <10; 69% with Eastern Cooperative Oncology Group (ECOG) score of 3-4). In-hospital mortality was 18%, and the median time from admission to death was 11 days (interquartile range, 1-61 days). Factors significantly associated with in-hospital mortality were the ECOG score and thrombocytopenia. The 180-day mortality rate was 52%, with deaths mainly occurring in the first 90 days since VTE diagnosis. Additional factors significantly associated with outpatient mortality included male sex and neoplasms with a high risk of thrombosis (lung, pancreas, stomach, uterus, bladder, and kidney neoplasms). CONCLUSION: Patients with stage IV cancer and acute VTE have short survival. Poor prognostic factors are thrombocytopenia, the ECOG score, and certain types of cancer. These results may help physicians individualize decisions regarding initiation and continuation of anticoagulant therapy.

Validation of the PESI Scale to Predict in-Hospital Mortality in Patients with Pulmonary Thromboembolism Secondary to SARS CoV - 2 Infection.

OBJECTIVE: To evaluate the discriminative ability and the calibration of the Pulmonary Embolism Severity Index (PESI) to predict in-hospital mortality in patients with Pulmonary Embolism (PE) secondary to COVID 19 in two hospitals in Bogotá. METHODS: External validation study of a prediction model based on a retrospective cohort of patients with PE secondary to COVID-19 treated at Hospital Universitario San Ignacio and Hospital universitario La Samaritana, between March 2020 and August 2021. Calibration of the scale was evaluated using the Hosmer-Lemeshow test and a calibration belt diagram. Discrimination ability was evaluated using a ROC curve. RESULTS: 272 patients were included (median age 61.5 years, male 58.8%). PE was diagnosed in 45.6% of the patients at the time of admission. Of the remaining 54.4%, 95.9% received thromboprophylaxis until the time of diagnosis.17.6% of the patients died. Regarding calibration, the scale systematically underestimates risk in all classes of PESI. For class I, the ratio of observed/expected events was 4.4 vs 0.8%, class II 4.8 vs 1.8%, class III 15.2 vs 4.2%, class IV 14.3 vs 5.9% and class V 46.7 vs 5.8%. The calibration test rejected the adequate calibration hypothesis (p < 0.001). The discriminatory ability was adequate (AUC = 0.7128, 95% CI 0.63-0.79). CONCLUSIONS: The PESI scale in patients with PE secondary to COVID 19 underestimates the risk of in-hospital mortality, while maintaining adequate discrimination. It is suggested not to use the PESI scale until it is recalibrated in this context.

Consenso Colombiano para la prevención, diagnóstico y manejo de condiciones trombóticas en pacientes adultos con COVID-19: aplicando el Marco de la Evidencia a la Decisión (EtD) GRADE / Colombian consensus for the prevention, diagnosis and treatment of thrombotic conditions in adult patients with COVID-19: applying GRADE Evidence to Decision (EtD) Frameworks

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Abstract Recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. In this context, the aim was to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: A rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: Recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.

Consenso colombiano para la prevención, el diagnóstico y el tratamiento de condiciones trombóticas en adultos con COVID-19: aplicando el Marco de la Evidencia a la Decisión (EtD) GRADE / Colombian consensus for the prevention, diagnosis and treatment of thrombotic conditions in adults with COVID-19: applying GRADE Evidence to Decision (EtD) Frameworks

Introducción estudios recientes han reportado fenómenos trombóticos o coagulopatía en pacientes con COVID-19. Hay posiciones divergentes en cuanto a la prevención, el diagnóstico y el tratamiento de estos fenómenos, y la práctica clínica actual está basada únicamente en deducciones por extensión a partir de estudios retrospectivos, series de casos, estudios observacionales y guías internacionales desarrolladas previas a la pandemia. Objetivo establecer una serie de recomendaciones sobre prevención, diagnóstico y manejo de las complicaciones trombóticas asociadas a COVID-19. Métodos se desarrolló una guía rápida en la que se aplicó el marco de la evidencia a la decisión (EtD) de GRADE y un sistema de participación iterativo, con análisis estadísticos y cualitativos de sus resultados. Resultados se generaron 31 recomendaciones clínicas enfocadas a: a) Pruebas de coagulación en adultos sintomáticos con sospecha de infección o infección confirmada por SARS-CoV-2; b) Tromboprofilaxis en personas adultas con diagnóstico de COVID-19 (escalas de riesgo, tromboprofilaxis de manejo ambulatorio, intrahospitalario y duración de tromboprofilaxis después del egreso de hospitalización), c) Diagnóstico y tratamiento de las complicaciones trombóticas y d) Manejo de personas con indicación previa a usar agentes anticoagulantes. Conclusiones las recomendaciones clínicas de este consenso orientan la toma de decisiones clínicas respecto a prevención, diagnóstico y tratamiento de fenómenos trombóticos en pacientes con COVID-19, y representan un acuerdo que ayudará a disminuir la dispersión en las prácticas clínicas acorde con el desafío que impone la pandemia.

Abstract Introduction: recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. Objective: to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: a rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.

Improving compliance to clinical practice guidelines with a multifaceted quality improvement program for the prevention of venous thromboembolic disease in nonsurgical patients.

OBJECTIVE: To evaluate the change in compliance to thromboprophylaxis guidelines before and after the implementation of a multifaceted patient safety program. DESIGN: Longitudinal before and after study. SETTING: Teaching hospital, Hospital Universitario San Ignacio, Bogotá (Colombia). PARTICIPANTS: Adult nonsurgical hospitalized patients. INTERVENTION: A multifaceted program for the prevention of venous thromboembolic (VTE) disease among adult nonsurgical hospitalized patients. The strategies of the program included (i) update and communication of thromboprophylaxis guidelines, (ii) the implementation of risk-assessment tools in electronic medical records, (iii) nursing staff activities and (iv) education to health personnel and patients for maintenance of the program. MAIN OUTCOME MEASURE: Appropriate use of thromboprophylaxis. RESULTS: 221 and 236 patients were evaluated in the pre- and postimplementation periods, respectively. Global appropriate thromboprophylaxis prescription went from 74.66 to 82.6% (P = 0.064). Adequate thromboprophylaxis in high-risk patients did not increase significantly (77.70 vs 80.62%, P = 0.528), but a significant reduction in inappropriate thromboprophylaxis formulation in low-risk patients was found, decreasing from 20.55 to 5.26% (P = 0.005). CONCLUSIONS: Implementing a quality improvement multifaceted program improves the formulation of adequate thromboprophylaxis. Reducing the inappropriate prescription of VTE prophylaxis in patients at low risk of thrombosis can lead to a reduction in bleeding complications and a better use of economic and human resources.

Glomerulopatía membranosa con glomerulonefritis necrosante. Una asociación infrecuente / Membranous glomerulopathy with necrotizing glomerulonephritis. An infrequent association

Resumen Antecedentes: la asociación entre glomerulopatía membranosa y glomerulonefritis necrosante crescéntica es infrecuente: 0.4%, confiriendo un escenario de peor pronóstico. Se requieren estudios que precisen el esquema de tratamiento óptimo, sin embargo, el rápido inicio de terapia inmunosupresora impacta en la preservación de la función renal. Objetivo: exponer un caso en el cual se presenta esta asociación y tiene adecuada respuesta con el tratamiento realizado. Métodos: en este artículo se presenta un caso de una mujer con síndrome nefrótico a quien se le documenta glomerulopatía membranosa con proliferación extracapilar confirmada con biopsia renal, sin evidencia de autoinmunidad, neoplasia ni proceso infeccioso. Tras el diagnóstico se inició manejo con metilprednisolona y ciclofosfamida con adecuada evolución, sin deterioro de la función renal y con mejoría de proteinuria. Conclusión: la presencia de proliferación extracapilar da peor pronóstico en los pacientes con glomerulopatía membranosa, el inicio oportuno del tratamiento es fundamental. (Acta Med Colomb 2019; 44: 39-42).

Abstract Background: the association between membranous glomerulopathy and crescentic necrotizing glomerulonephritis is infrequent: 0.4%, conferring a worst prognosis scenario. Studies that require the optimal treatment scheme are required; however, it has been described that the rapid onset of immunosuppressive therapy impacts on the preservation of renal function. Objective: to present a case in which this association is presented and has an adequate response to the performed treatment. Methods: in this article, a case of a woman with nephrotic syndrome with a documented membranous glomerulopathy with extracapillary proliferation confirmed by renal biopsy, without evidence of autoimmunity, neoplasia or infectious process is presented. After the diagnosis, treatment with methylprednisolone and cyclophosphamide was started with adequate evolution, without deterioration of renal function and with improvement of proteinuria. Conclusion: the presence of extracapillary proliferation gives worse prognosis in patients with membranous glomerulopathy. The timely initiation of treatment is essential. (Acta Med Colomb 2019; 44: 39-42).

Miopericarditis como manifestación inicial de enfermedad de Still del adulto / Myopericarditis as initial manifestation of adult-onset Still's disease

Se presenta el caso de un hombre de 25 años de edad con cuadro febril persistente, leucocitosis, mialgias y artralgias, en quien se documenta miopericarditis con falla cardiaca aguda asociada. Tras un exhaustivo estudio de fiebre de origen desconocido se hace diagnóstico de enfermedad de Still del adulto.

We report the case of a 25 year-old man with persistent fever, leukocytosis, myalgias and arthralgias; in whom myopericarditis associated with acute heart failure was documented. After an exhaustive study of fever of unknown origin he was diagnosed as adult Still's disease.