The Genetic Research in Alzheimer Disease (GERALD) Initiative Finds rs9320913 as a Neural eQTL of lincRNA AL589740.1.

Alzheimer's disease is the most common cause of dementia worldwide, and longitudinal studies are crucial to find the factors affecting disease development. Here, we describe a novel initiative from southern Spain designed to contribute in the identification of the genetic component of the cognitive decline of Alzheimer's disease patients. The germline variant rs9320913 is a C>A substitution mapping within a gene desert.

Linear Scleroderma and Primary Sclerosing Cholangitis: An Undescribed Association.

Linear scleroderma (LS) is clinically characterized by the presence of sclerotic areas of skin, which develop in a linear pattern. Primary sclerosing cholangitis is a cholestatic disorder that can lead to end-stage liver disease. We present, for the first time in English literature, the case of a patient suffering from both the diseases.

Treatment of Elephantiasis Nostras Verrucosa with CO Laser.

Elephantiasis nostras verrucosa (ENV) is the most severe form of chronic non-filarial lymphedema that leads to disfiguration of body parts. Multiple topical and surgical treatments have been typically used with high relapse rates and local complications. In this context, CO2 laser emerges as a new well-tolerated and effective treatment option.

Aortic assessment of bicuspid aortic valve patients and their first-degree relatives.

Background Bicuspid aortic valve patients have an increased risk of aortic dilatation. A deficit of nitric oxide synthase has been proposed as the causative factor. No correlation between flow-mediated dilation and aortic diameter has been performed in patients with bicuspid aortic valves and normal aortic diameters.

Mitral valve replacement in the elderly is associated with low mortality and similar survival to the general population.

Background: With the increase of elderly population, cardiologists and surgeons are faced with an increased incidence of mitral regurgitation. Most of these patients are denied surgery due to a misconceived perception of ominous surgical results. Our objective was to analyze early and late survival in elderly patients after mitral valve surgery in a center in which replacement is the procedure of choice.

Mitral valve replacement in the elderly is associated with low mortality and similar survival to the general population.

Background: With the increase in the elderly population, cardiologists and surgeons are faced with an increased incidence of mitral regurgitation. Most of these patients are denied surgery due to a misconceived perception of ominous surgical results. Our objective was to analyze early and late survival in elderly patients after mitral valve surgery in a center in which replacement is the procedure of choice.

Mitral valve replacement in the elderly is associated with low mortality and similar survival to the general population.

Background: With the increase in the elderly population, cardiologists and surgeons are faced with an increased incidence of mitral regurgitation. Most of these patients are denied surgery due to a misconceived perception of ominous surgical results. Our objective was to analyze early and late survival in elderly patients after mitral valve surgery in a center in which replacement is the procedure of choice.

Similar survival after mitral valve replacement or repair for ischemic mitral regurgitation: a meta-analysis.

Background: Ischemic mitral regurgitation (IMR) occurs in 20% of patients after myocardial infarction. There is no agreement as to the best surgical option. With no prospective randomized controlled trials available, our objective was to perform a meta-analysis comparing replacement and repair.

Cardiac denervation procedure to treat refractory angina in a patient with Churg-Strauss syndrome and non-obstructive coronary lesions.

Cardiac involvement in Churg-Strauss syndrome is common and represents the main cause of mortality. We report the case of a patient with Churg-Strauss vasculitis, mitral regurgitation with left ventricular dysfunction, paroxysmal atrial fibrillation and refractory angina with non-significant coronary lesions. Cardiac denervation was proposed as an associated procedure to treat angina.

Risk of subsequent aortic dilatation is low in patients with bicuspid aortic valve and normal aortic root diameter at the time of aortic valve replacement.

Bicuspid aortic valves (BAVs) are associated with ascending aortic aneurysms. We studied BAV patients before and after aortic valve replacement (AVR) to determine the risk and predictors of aortic root dilatation after surgery. BAV patients (n=60) with an aortic root View Article and Find Full Text PDF

Two cases of pulmonary homograft replacement for isolated pulmonary valve endocarditis.

Isolated pulmonary endocarditis is rare. Two cases that required surgical treatment are reported: a 35-year-old woman with predisposing factors for right-sided endocarditis who presented with complete heart block; and a healthy 65-year-old man with no predisposing factors who was admitted with septic shock. Both patients presented with septic shock and pulmonary septic emboli requiring urgent surgical treatment.

[Atrial thrombus entrapped in a patent foramen oval. Report of one case].

We report a 63 year-old female with a pulmonary embolism in whom echocardiography revealed the presence of right heart thrombus. A section of this thrombus was entrapped in a patent foramen oval and floating in both atria. This rare situation, named impending paradoxical embolism, prompted us to perform a surgical intervention, removing the thrombus and repairing the foramen ovale.

Surgical anatomy of the saphenous nerve.

Background: During harvest of the saphenous vein (SV), the most important relationship to take into account is the saphenous nerve (SN) to avoid pain and paresthesias after surgery.

Methods: We harvested the SV and SN in 20 cadaveric lower limbs. Relationships between both structures were recorded using a millimetric ruler, and distances were measured from the medial malleolus at the ankle.

Long-term follow-up of Lambert-Eaton syndrome treated with intravenous immunoglobulin.

Recent reports have shown that patients with Lambert-Eaton myasthenic syndrome (LEMS) improve transiently after high-dose intravenous immunoglobulin (IVIG) administration. Information about the usefulness of IVIG for long-term treatment is rather scanty. Our findings demonstrate the efficacy of monthly IVIG courses at a dose of 0.

[Primary CNS lymphoma. Infratentorial localization and prolonged survival].

A case of a 35-year-old woman presenting infratentorial CNS lymphoma is reported. In 1990 she complained of diplopia, blurred vision and left horizontal nistagmus. An MRI disclosed a lesion in the medulla, pons, and cerebellar vermis and peduncles.

Computer interviewing of patients with epilepsy.

Epilepsy histories obtained by the computer interview were similar in substance and detail to histories recorded by house staff and attending physicians. In general, more information was obtained by the computer, and negative findings were consistently recorded by the computer. For potentially embarrassing questions, the computer may obtain more accurate information (Slack and Van Cura, 1968b).

Computers and psychiatry. Promises to keep.

The potential of computer-based psychiatric information systems is still largely undeveloped. Conceptual, technical, cost, and procedural problems have limited the impact of computers, but there are programs that have been successful or that show promise. While changes in the philosophy of psychiatric computer applications are on-going, a cost-effective, widely available clinical computer system has been developed.