Application of radionuclide imaging in the diagnosis and management of Gaucher′s disease / 中华核医学与分子影像杂志

Gaucher′s disease (GD) is a lysosomal storage disease, and the etiology of GD is the decreased activity of glucocerebrosidase, which leads to the accumulation of glucocerebroside in the lysosomes of macrophages. Because GD is rare and lacks specific clinical manifestations, it is easy to be misdiagnosed, which delays the best time for treatment. Early diagnosis, clinical evaluation, and regular monitoring of the disease have important clinical significance for enzyme replacement therapy in patients with GD. Recent studies have found that radionuclide imaging is playing an increasingly important role in the diagnosis and treatment of GD. This article introduces the application of radionuclide imaging in the diagnosis and management of GD.

The clinico-pathological manifestation of cardiac involvement in eosinophilic diseases / 中华内科杂志

Objective To investigate the clinical and pathological features of eosinophilic diseases with cardiac involvement Methods We analyzed the clinical and cardiac pathological data of 7 patients with eosinophilic diseases with cardiac involvement under endomyocardial biopsy or autopsy.Results Seven patients (5 male, average age 51 years) were enrolled.Four patients were diagnosed as idiopathic hypereosinophilic syndrome and three were Churg-Strauss syndrome.Peripheral blood eosinophila count increased significantly in all patients.Cardiac involvement included angina pectoris, myocardial infarction, heart failure, presyncope and sudden death.Electrocardiogram showed cardiac ischemia, bundle branch block and third degree atrioventricular block.Echocardiography suggested ventricular and atrial enlargement, decreased ventricular systolic function, pulmonary hypertension, valvular prolapse and insufficiency and endocarditis.Pathology displayed infiltration of eosinophils, formation of granulomata, necrotizing vasculitis, myocardial necrosis and endomyocardial fibrosis in heart.Coronary artery could be also affected and led to myocardial infarction.Conclusions Cardiovascular complications of eocinophilic diseases are a major source of morbidity and mortality in these disorders.The manifestations are multiple and early recognition and treatment with steroid and immunosuppressant can improve prognosis.