RESUMEN
PURPOSE: There is a need for early quantitative markers of potential treatment response in patients with hereditary transthyretin (ATTRv) amyloidosis to guide therapy. This study aims to evaluate changes in cardiac tracer uptake on bone scintigraphy in ATTRv amyloidosis patients on different treatments. METHODS: In this retrospective cohort study, outcomes of 20 patients treated with the transthyretin (TTR) gene silencer patisiran were compared to 12 patients treated with a TTR-stabilizer. Changes in NYHA class, cardiac biomarkers in serum, wall thickness, and diastolic parameters on echocardiography and NYHA class during treatment were evaluated. RESULTS: Median heart/whole-body (H/WB) ratio on bone scintigraphy decreased from 4.84 [4.00 to 5.31] to 4.16 [3.66 to 4.81] (p < .001) in patients treated with patisiran for 29 [15-34] months. No changes in the other follow-up parameters were observed. In patients treated with a TTR-stabilizer for 24 [20 to 30] months, H/WB ratio increased from 4.46 [3.24 to 5.13] to 4.96 [ 3.39 to 5.80] (p = .010), and troponin T increased from 19.5 [9.3 to 34.0] ng/L to 20.0 [11.8 to 47.8] ng/L (p = .025). All other parameters did not change during treatment with a TTR-stabilizer. CONCLUSION: A change in cardiac tracer uptake on bone scintigraphy may be an early marker of treatment-specific response or disease progression in ATTRv amyloidosis patients.
Asunto(s)
Neuropatías Amiloides Familiares , Cardiomiopatías , Humanos , Prealbúmina/genética , Estudios Retrospectivos , Estudios de Seguimiento , Neuropatías Amiloides Familiares/diagnóstico por imagen , Cintigrafía , Cardiomiopatías/diagnóstico por imagenRESUMEN
Low serum potassium concentration is a frequently encountered abnormality, seldom accompanied by life-threatening symptoms. We present a 55-year-old women with a severe, symptomatic hypokalaemia. The pathogenesis and clinical manifestations are discussed.
Asunto(s)
Cabeza/fisiopatología , Hipopotasemia/diagnóstico , Hipopotasemia/fisiopatología , Postura/fisiología , Femenino , Humanos , Hipopotasemia/terapia , Persona de Mediana EdadRESUMEN
A 38-year-old man presented with respiratory insufficiency due to a pneumothorax on the left side and giant bullae on the right side.
Asunto(s)
Neumotórax/diagnóstico , Insuficiencia Respiratoria/diagnóstico , Adulto , Vesícula/patología , Diagnóstico Diferencial , Humanos , Masculino , Neumotórax/complicaciones , Neumotórax/patología , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/patologíaRESUMEN
A 19-year-old woman is presented with high-spiking fever, pericardial tamponade and respiratory failure. A diagnosis of adult onset Still's disease was made. This is a rare inflammatory disease with an unknown aetiology. The diagnosis is made by exclusion and with the help of diagnostic criteria. Treatment with corticosteroids met with a good response.
