Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown. This study determined the prevalence of a potentially treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population.Methods and Results-Plasma alpha-galactosidase A (alpha-Gal) was measured in 79 men with HCM who were diagnosed at greater than or equal to40 years of age (52.9 +/- 7.7 years; range, 40-71 years) and in 74 men who were diagnosed at <40 years (25.9 +/- 9.2 years; range, 8-39 years). Five patients (6.3%) with late-onset disease and 1 patient (1.4%) diagnosed at <40 years had low alpha-Gal activity. Of these 6 patients, 3 had angina, 4 were in New York Heart Association class 2, 5 had palpitations, and 2 had a history of syncope. Hypertrophy was concentric in 5 patients and asymmetric in 1 patient. One patient had left ventricular outflow tract obstruction. All patients with low alpha-Gal activity had alpha-Gal gene mutations.Conclusion-Anderson-Fabry disease should be considered in all cases of unexplained hypertrophy. Its recognition is important given the advent of specific replacement enzyme therapy

Phase diagram of YBa2_2Cu3_3O7−y_{7-y} at T<<Tc_c based on Cu(2) transverse nuclear relaxation

Two maxima in transverse relaxation rate of Cu(2) nuclei in YBa$_2$Cu$_3$O$_{7-y}$ are observed, at T = 35 K and T = 47 K. Comparison of the $^{63}$Cu(2) and $^{65}$Cu(2) rates at T = 47 K indicates the magnetic character of relaxation. The enhancement at T = 47 K of fluctuating local magnetic fields perpendicular to the CuO$_2$ planes is connected with the critical fluctuations of orbital currents. Maximum at T = 35 K is connected with the appearance of inhomogeneous supeconducting phase. Together with data published to date, our experimental results allow to suggest a qualitatively new phase diagram of the superconducting phase.Comment: 4 LaTEX pages + 3 figures in *.ps forma

Paroxysmal Compulsion to Handle Keys in a Computer Operator Due To Meningioma in the Left Supplementary Motor Area

We describe the case of a computer operator who experienced paroxysmal attacks several times in which she felt a compulsion to handle keys with her right hand or actually her right hand moved involuntarily in a key-handling rhythm. Cranial CT and MRI revealed a mass lesion in the left medial aspect of the frontal lobe (supplementary motor area). After the removal of this tumor (meningioma), there were no more paroxysmal attacks. We suggest that voluntary movements controlled by the supplementary motor area were deranged by seizures provoked by the tumor. This case is attractive in relation to obsessive-compulsive disorder

Paroxysmal compulsion to handle keys in a computer operator due to meningioma in the left supplementary motor area

We describe the case of a computer operator who experienced paroxysmal attacks several times in which she felt a compulsion to handle keys with her right hand or actually her right hand moved involuntarily in a key-handling rhythm. Cranial CT and MRI revealed a mass lesion in the left medial aspect of the frontal lobe (supplementary motor area). After the removal of this tumor (meningioma), there were no more paroxysmal attacks. We suggest that voluntary movements controlled by the supplementary motor area were deranged by seizures provoked by the tumor. This case is attractive in relation to obsessive-compulsive disorder

Pericardial Thickness Measured With Transesophageal Echocardiography: Feasibility and Potential Clinical Usefulness

AbstractObjectives. This study assessed the reliability of transesophageal echocardiographic measurements of pericardial thickness and the potential diagnostic usefulness of this technique.Background. Transthoracic echocardiography cannot reliably detect thickened pericardium. The superior resolution achieved with transesophageal echocardiography should allow better pericardial definition.Methods. Pericardial thickness measured at 26 locations in 11 patients with constrictive pericarditis who underwent intraoperative transesophageal echocardiography was compared with pericardial thickness measured with electron beam computed tomography. Intraobserver and interobserver variabilities were determined. Pericardial thickness was then measured in 21 normal subjects. With these values as a guide, two observers reviewed 37 transesophageal echocardiographic studies to determine whether echocardiographic measurement of pericardial thickness could be used to distinguish diseased from normal pericardium.Results. The correlation between echocardiographic and computed tomographic measurements (r ≥ 0.95, SE ≤ 0.06 mm, p < 0.0001) was excellent. The ±2 SD limits of agreement were ±1.0 mm or less for pericardial thickness <5.5 mm and ±2.0 mm or less for the entire range of thicknesses. Intraobserver and interobserver agreements were good. Mean normal pericardial thickness was 1.2 ± 0.8 mm (±2 SD) and did not exceed 2.5 mm. Pericardial thickness ≥3 mm on transesophageal echocardiography was 95% sensitive and 86% specific for the detection of thickened pericardium.Conclusions. Measurement of pericardial thickness with transesophageal echocardiography is reproducible and should be a valuable adjunct in assessing constrictive pericarditis.(J Am Coll Cardiol 1997;29:1317–23

OligoWalk: an online siRNA design tool utilizing hybridization thermodynamics

Given an mRNA sequence as input, the OligoWalk web server generates a list of small interfering RNA (siRNA) candidate sequences, ranked by the probability of being efficient siRNA (silencing efficacy greater than 70%). To accomplish this, the server predicts the free energy changes of the hybridization of an siRNA to a target mRNA, considering both siRNA and mRNA self-structure. The free energy changes of the structures are rigorously calculated using a partition function calculation. By changing advanced options, the free energy changes can also be calculated using less rigorous lowest free energy structure or suboptimal structure prediction methods for the purpose of comparison. Considering the predicted free energy changes and local siRNA sequence features, the server selects efficient siRNA with high accuracy using a support vector machine. On average, the fraction of efficient siRNAs selected by the server that will be efficient at silencing is 78.6%. The OligoWalk web server is freely accessible through internet at http://rna.urmc.rochester.edu/servers/oligowalk

Correlations Between Charge Ordering and Local Magnetic Fields in Overdoped YBa2_2Cu3_3O6+x_{6+x}

Zero-field muon spin relaxation (ZF-$\mu$SR) measurements were undertaken on under- and overdoped samples of superconducting YBa$_2$Cu$_3$O$_{6+x}$ to determine the origin of the weak static magnetism recently reported in this system. The temperature dependence of the muon spin relaxation rate in overdoped crystals displays an unusual behavior in the superconducting state. A comparison to the results of NQR and lattice structure experiments on highly doped samples provides compelling evidence for strong coupling of charge, spin and structural inhomogeneities.Comment: 4 pages, 4 figures, new data, new figures and modified tex