Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia.

We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure.     

Clinical evaluation of a functional prothrombin time-based assay for identification of factor V Leiden carriers in a group of Italian patients with venous thrombosis.

The efficiency of a new prothrombin-based activated protein C (APC) resistance test to detect factor V Leiden (FVL) was clinically evaluated in 150 Italian patients with deep venous thrombosis. Patient samples are diluted in factor-V-deficient plasma, an APC-containing reagent, and specific factor V activator; after incubation, clotting is initiated by addition of activated-factor-FV-dependent prothrombin activator. Two prothrombin time determinations were performed under identical assay conditions except that no APC was added to one. A ratio over 4.2 for normal individuals and under 2.0 for FVL patients is expected: between 1.3 and 1.9 for FVL heterozygotes, and between 1.0 and 1.1 for FVL homozygotes. Using a predefined cut-off ratio of 2.0, a specificity and a sensitivity of 1.00 for detection of FVL mutation were found. With a cut-off ratio of 1.1, a specificity of 0.98 and a sensitivity of 1.00 were found for discrimination between FVL heterozygous (n = 60) and homozygous (n = 6). No interferences by heparins, oral contraceptives, oral anticoagulant therapy, protein C, protein S, D-dimer, homocysteine, MTHFR mutations and antiphospholipid autoantibodies were detected. In our experience, this new prothrombin time-based APC resistance assay provides improved discrimination between normal individuals and FVL carriers compared with the classical methods. Moreover, this new assay allows good discrimination between homozygous and heterozygous FVL carriers. In the authors' experience this prothrombin time-based method was not influenced by many factors compared with the classical activated partial thromboplastin time-based method.     

Porcelain heart

A 65-year-old hypertensive man with shortness of breath andatypical thoracic pain underwent coronary angiography for     

Failed Amplatzer Septal Occluder device implantation due to an embryonic septal remnant

Embryonic remnants of incomplete septation may complicate occlusiondevice implantation in secundum atrial septal defects (sASD)even if stiff devices such as the Amplatzer Occluder are used. A 35-year-old woman was referred to our center for evaluationof a sASD.     

Top-down and bottom-up processes in the extrastriate cortex of cirrhotic patients: an ERP study.

OBJECTIVE: This study aims to evaluate the efficiency of top-down and bottom-up processes in the extrastriate cortex of cirrhotic patients without overt hepatic encephalopathy (HE). METHODS: Reaction times (RTs), accuracy and event-related potentials (ERPs) were recorded during the execution of a visual Simon task in 17 cirrhotic patients and 10 healthy controls. Amplitude and latency of the P1 and N1 (indexes of bottom-up processes) and of the N2pc (index of top-down processes) were measured. RESULTS: Patients were slower than controls, and patients with minimal HE (MHE) were slower than patients without MHE. The distribution analysis of RTs showed that the Simon effect decays with slower RTs in all the groups and that the shape of the distribution was different in MHE patients. No differences were found between cirrhotic patients and controls for P1 and N1 amplitude and latency. In contrast, N2pc latency was delayed in cirrhotic patients compared to controls independently of MHE. CONCLUSIONS: In the extrastriate cortex of cirrhotic patients without HE, top-down processes are altered whereas bottom-up processes are preserved. SIGNIFICANCE: The analysis of exogenous and endogenous visual components of ERPs provides a model to study the functional dissociation between top-down and bottom-up processes inside the extrastriate cortex.