Angiotensin-converting enzyme (ACE) insertion/deletion gene polymorphism across ethnicity: a narrative review of performance gene

Sport Sciences for Health - Angiotensin-converting enzyme (ACE) gene has been reported to be one of the candidate genes for endurance performance. The ACE gene insertion/deletion (I/D) polymorphism...     

Severe chronic aortic insufficiency requiring valve replacement: an infrequent complication of Takayasu's disease

Takayasu's arteritis (TA) is a granulomatous vasculitis of medium and large arteries, which most often presents as pulseless disease due to widespread arterial stenoses. Only the minority of TA patients have aortic valve insufficiency, which is due to aortic root dilatation following aortitis and aneurysm formation. No other cardiac valve is involved. We report a case of Takayasu's disease-related severe aortic insufficiency (AI) in a Filipino woman, which necessitated aortic valve replacement. It is important to consider TA in the differential diagnosis of AI in young women, particularly those with early-onset systemic hypertension and pulse deficits. Early diagnosis and therapy of TA can improve outcomes.     

Catheter-Based Aortography Fails to Identify Aortic Atherosclerotic Lesions Detected on Transesophageal Echocardiography

BACKGROUND AND PURPOSE: Transesophageal echocardiography is used to detect the aortic arch pathology during diagnostic workup of ischemic stroke events. Conventional angiography is increasingly used in diagnosing and treating atherosclerotic vascular lesions in patients with ischemic stroke. Although catheter-based aortography can be performed with cerebral angiography, there is limited information about the utility of aortography in identifying atherosclerotic abnormalities of the aortic arch. METHODS: A retrospective chart review was performed to identify patients who underwent aortography as part of their angio-graphic study and transesophageal echocardiography. Both studies were reviewed independently in the absence of knowledge of the results of the other study. The findings of these aortograms were correlated with the findings of transesophageal echocardiography. RESULTS: A total of 34 patients underwent both aortography and echocardiography. Of a total of 34 trans esophageal echocardiograms, 29 showed abnormal findings in the aorta (85%) and 5 appeared normal (15%). These aortic abnormalities included mild to moderate atherosclerosis in 18 cases (52%), moderate to severe atherosclerosis in 4 cases (12%), and severe atherosclerosis in 7 cases (21%). None of these abnormalities were detected by aortography. No disease was visualized in the origin of the supraaortic arteries. CONCLUSIONS: Aortic arch atherosclerosis is common in patients with ischemic stroke; however, aortograms acquired during conventional angiography fail to identify abnormalities detected on transesophageal echocardiogram.     

Use of the novel thrombopoietin receptor-agonist romiplostim, in combination with steroids and immunoglobulins for the increase of platelets prior to splenectomy, in refractory immune thrombocytopenia: a case report

This case report describes a patient with relapsed primary immune thrombocytopenic purpura (ITP), in which splenectomy was not possible due to the persistence of a low platelet count despite treatment with corticosteroids, intravenous immunoglobulins (IVIG) and platelet transfusion treatment. As an attempt to increase platelet count prior to performing splenectomy, the thrombopoietin receptor agonist, romiplostim, was administered in combination with steroids and IVIG. A single administration of romiplostim was found to be markedly effective, allowing a rapid and notable platelet increase, required for a well tolerated splenectomy. This case confirms the potent activity of romiplostim in ITP, and indicates that patients with recurrent primary ITP who are unresponsive to conventional immunosuppressive therapy may benefit from the addition of a short course of romiplostim.