ABSTRACT
Resumen Introducción: la escala SAMe-TT2R2 ha sido propuesta para predecir la calidad de la anticoagulación con antagonistas de la vitamina K. Objetivo: validar la capacidad discriminativa de la escala SAMe-TT2R2 en una cohorte de pacientes con fibrilación auricular no valvular de la vida real. Métodos: estudio observacional de pacientes con fibrilación auricular no valvular tratados con antagonistas de la vitamina K al menos seis meses. Se consideró buen control de anticoagulación un tiempo en rango terapéutico ≥ 65% estimado con el método de Rosendaal. Se evaluó la asociación entre puntuación SAMe-TT2R2 y el control de anticoagulación con regresión logística binaria. La capacidad de discriminación se analizó mediante el cálculo del valor del área bajo la curva ROC. Resultados: se incluyeron 241 pacientes de edad media 78,6±8,6 años, 53% mujeres. La media del tiempo en rango terapéutico fue 59,4±25,4%, menor según aumentó la puntuación SAMe-TT2R2. En general, la escala no mostró capacidad para discriminar los pacientes con adecuado control de anticoagulación: área bajo la curva ROC 0,57 (IC95%:0,49-0,64, p=0,06). Solo fue útil para las puntuaciones extremas, con probabilidad de buen control del 65,1% vs. 34,9%, p=0,01 para valor 0 y del 0% vs. 100%, p=0,03 para ≥ 4. La razón de disparidad de tener un tiempo en rango terapéutico <65% para puntuación ≥2 fue de 1,22 (IC95%:0,73-2,02, p=0,44). Conclusión: en una cohorte de pacientes con fibrilación auricular no valvular y datos de la vida real la escala SAMe-TT2R2 no mostró, globalmente, capacidad discriminatoria para control adecuado de anticoagulación con antagonistas de vitamina K. Solo se mostró útil para clasificar correctamente los casos con puntuaciones extremas.
Abstract Introduction: The SAMe-TT2R2 score has been proposed to predict the quality of anticoagulation with vitamin K antagonists. Objective: To validate the discriminatory power of the SAMe-TT2R2 score real-life in a patient cohort with non-valvular atrial fibrillation. Material and methods: An observational study was conducted on patients with non-valvular atrial fibrillation treated with vitamin K antagonists for at least six months. Good anticoagulation control was considered a time in the therapeutic range of ≥ 65%, estimated with the Rosendaal method. The relationship between the SAMe-TT2R2 score and the anticoagulation control was evaluated using a binary logistic regression. The discriminatory power was determined using the calculation of the value of the area under the ROC curve. Results: The study included total of 241 patients, with a mean age of 78.6±8.6 years, and 53% women. The mean time in the therapeutic range was 59.4±25.4%, low according to the increase in the SAMe-TT2R2 score. In general, the scale did not appear to have the power to discriminate patients with adequate anticoagulation control, with an area under the ROC curve of 0.57 (95% CI: 0.49-0.64, P=.06). It was only useful for extreme scores, with a probability of good control of 65.1% vs. 34.9%, P=.01 for a value of 0, and of 0% vs. 100%, P=.03 for ≥ 4. The disparity ratio of having a time in the therapeutic range of <65% for a score ≥2 was 1.22 (95% CI: 0.73-2.02, P=.44). Conclusion: In a cohort of patients with non-valvular atrial fibrillation and with real-life data, the SAMe-TT2R2 scale, did not, on the whole, show discriminatory power for the adequate control of anticoagulation with vitamin K antagonists. It only showed to be useful to correctly classify the cases with extreme scores.
Subject(s)
Humans , Female , Aged , Atrial Fibrillation , Anticoagulants , Primary Prevention , AcenocoumarolABSTRACT
BACKGROUND: Spontaneous pneumomediastinum (SPM) is an uncommon disorder. It is rarely reported in paediatric patients and may be accompanied by subcutaneous emphysema. It is usually benign and self-limiting, with only supportive therapy being needed, but severe cases may require invasive measures. Asthma exacerbations have classically been described as a cause of SPM. However, detailed descriptions in asthmatic children are scarce. We aimed at improving the current understanding of the features of SPM and subcutaneous emphysema, and outcomes, by means of a case report and a systematic review. METHODS: For the systematic review a literature search was performed in PubMed to identify reported cases of SPM in asthmatic children. RESULTS: The case a 10-year-old asthmatic girl with SPM is reported. The patient received an inhaled corticosteroid and long-acting beta2 agonist, in addition to sublingual immunotherapy (SLIT) with eventual control of asthma symptoms. REVIEW: A total of 114 published cases were found since 1995, most of them in teenagers; no sex differences were observed. Clinical presentation was associated with an asthma exacerbation in a number of cases. Other presenting features were chest pain, dyspnoea, cough, and particularly acute swelling of the face, neck, and upper chest. Subcutaneous emphysema was present in most patients. Overall, three cases of pneumothorax and two cases of pneumorrhachis were reported. Therapy was mainly based on supportive care, rest, oxygen therapy, analgesics, steroids, and bronchodilators. All patients recovered spontaneously, in spite of a small initial increase in SPM in a few cases. CONCLUSIONS: Early identification of patients at risk of SPM would avoid the high number of under-diagnosed cases. Patients should be treated not only with supportive therapy but also with measures to achieve control of the underlying cause (such as poorly controlled asthma).
Subject(s)
Asthma/complications , Mediastinal Emphysema/etiology , Subcutaneous Emphysema/etiology , Anti-Asthmatic Agents/therapeutic use , Asthma/drug therapy , Child , Cough/etiology , Dyspnea/etiology , Female , Humans , Mediastinal Emphysema/diagnosis , Mediastinal Emphysema/therapy , Subcutaneous Emphysema/diagnosis , Subcutaneous Emphysema/therapy , Treatment OutcomeABSTRACT
Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway. This disease is uncommon, although the prevalence is higher in asymptomatic heterozygotic carriers; however, this prevalence is difficult to establish because of the absence of symptoms. Although acute intermittent porphyria is a multisystemic disease, its most common form of presentation is abdominal pain and neurological or mental symptoms, which can sometimes be due to precipitating factors such as reduced energy intake, smoking, alcohol, some drugs, and stress. Diagnosis can be made by testing urinary porphobilinogen levels, with subsequent measurement of enzyme activity and DNA testing. Treatment is based on prevention of porphyria attacks by avoiding precipitating factors and early administration of intravenous glucose or hemin therapy. We present the case of a patient diagnosed with acute intermittent porphyria based on study of chronic mild alanine aminotransferase (ALT) elevation.
Subject(s)
Alanine Transaminase/blood , Porphyria, Acute Intermittent/enzymology , Abdominal Pain/etiology , Erythrocytes/enzymology , Exons/genetics , Female , Heterozygote , Humans , Hydroxymethylbilane Synthase/genetics , Middle Aged , Mutagenesis, Insertional , Porphyria, Acute Intermittent/complications , Porphyria, Acute Intermittent/diagnosis , Porphyria, Acute Intermittent/geneticsABSTRACT
La porfiria aguda intermitente es un trastorno hereditario autosómico dominante producido por un déficit en la actividad enzimática de la porfobilinógeno deaminasa, la tercera enzima en la síntesis del hemo. Se trata de una enfermedad rara, aunque los portadores heterocigotos asintomáticos tienen una prevalencia mayor, difícil de establecer dada la ausencia de clínica. Aunque la porfiria aguda intermitente es una enfermedad multisistémica, su presentación más frecuente es el dolor abdominal y los síntomas neurológicos o psiquiátricos, a veces debidos a algunos factores precipitantes, como la baja ingesta energética, el tabaco, el alcohol, algunos fármacos y el estrés. El diagnóstico se puede realizar midiendo el nivel de porfobilinógeno urinario, con posterior análisis de la actividad de la enzima defectuosa y estudio del ADN. El tratamiento se basa en la prevención de los ataques de porfiria, evitando los factores desencadenantes, y en la administración precoz de glucosa i.v. o tratamiento con hematina. Presentamos el caso de una paciente diagnosticada de porfiria aguda intermitente a partir del estudio de una elevación crónica leve de la GPT
Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway. This disease is uncommon, although the prevalence is higher in asymptomatic heterozygotic carriers; however, this prevalence is difficult to establish because of the absence of symptoms. Although acute intermittent porphyria is a multisystemic disease, its most common form of presentation is abdominal pain and neurological or mental symptoms, which can sometimes be due to precipitating factors such as reduced energy intake, smoking, alcohol, some drugs, and stress. Diagnosis can be made by testing urinary porphobilinogen levels, with subsequent measurement of enzyme activity and DNA testing. Treatment is based on prevention of porphyria attacks by avoiding precipitating factors and early administration of intravenous glucose or hemin therapy. We present the case of a patient diagnosed with acute intermittent porphyria based on study of chronic mild alanine aminotransferase (ALT) elevation