Cognitive function in Coffin-Lowry syndrome

Coffin-Lowry syndrome (CLS) is an X-linked disorder associated with mental retardation, distinctive facies and hands, hypotonia, and skeletal abnormalities. The syndrome results from mutations in the RSK2 gene located in Xp22.2. Although the syndrome has been elucidated clinically, few, if any, studies have focused on the cognitive deficits of the affected males or carrier females. The subjects of the present study were selected from two African-American families who have the same missense mutation (C340T) in RSK2. The subjects included six affected males, seven carrier females, three normal males and three non-carrier (normal) females. Normal family members served as contrast/comparison cohorts to control for socio-economic, sociocultural and genetic variables which would impinge on intellectual abilities. Analysis of cognitive function, as measured by the Stanford-Binet Intelligence Scale, 4th edn, demonstrated a distinct hierarchy of abilities from normal to carrier to affected patients. The mean composite IQs of the cohorts were 90.8, 65.0 and 43.2 for normal, carrier and affected individuals, respectively. These findings lend support to the clinical concept of negative intellectual effects in carriers of certain X-linked mental retardation conditions. X-inactivation studies showed that carrier females had mild to significant skewing. Normal females in the family did not demonstrate skewing. The correlation coefficient between IQ and X-inactivation status among carriers was not significant.     

Left ventricular thrombus and myocarditis induced by paraphenylenediamine poisoning

We showed that the paraphenylenediamine (PPD) poisoning caused myocarditis but there is no data on the echocardiographic features. We report a case of myocarditis induced by PPD poisoning with echographic data. After ingestion of 5 g of PPD, a 18-year-old woman was admitted to the hospital with asphyxia and rhabdomyolysis. An electrocardiogram showed ventricular extrasystoles and negative T waves. The serum concentration of CK was 28,020 UI l(-1) (iso-enzyme MB = 840 UI l(-1)). A transthoracic echocardiography showed significant left and right ventricular hypokinesis (shortening fraction = 20% and left ventricular ejection fraction = 35%) and a left ventricular apical thrombus. Anticoagulation treatment with heparin was initiated. A follow-up echocardiogram performed on the 15th day showed normalization of ventricular function and disappearance of the thrombus. No embolic event was noted. Echocardiography is indicated in the myocarditis induced by PPD poisoning to prove the ventricular function as well as the presence of a thrombus.     

Dynamic holographic imaging of the beating human heart

Background--Currently, the reporting and archiving of echocardiographic data suffer from the difficulty of representing heart motion on printable 2-dimensional (2D) media. Methods and Results--We studied the capability of holography to integrate motion into 2D echocardiographic prints. Images of normal human hearts and of a variety of mitral valve function abnormalities (mitral valve prolapse, systolic anterior motion of the mitral leaflets, and obstruction of the mitral valve by a myxoma) were acquired digitally on standard echocardiographic machines. Images were processed into a data format suitable for holographic printing. Angularly multiplexed holograms were then printed on a prototype holographic "laser" printer, with integration of time in vertical parallax, so that heart motion became visible when the hologram was tilted up and down. The resulting holograms displayed the anatomy with the same resolution as the original acquisition and allowed detailed study of valve motion with side-by-side comparison of normal and abnormal findings. Comparison of standard echocardiographic measurements in original echo frames and corresponding hologram views showed an excellent correlation of both methods (P<0.0001, r2=0.979, mean bias=2.76 mm). In this feasibility study, both 2D and 3D holographic images were produced. The equipment needed to view these holograms consists of only a simple point-light source. Conclusions--Holographic representation of myocardial and valve motion from echocardiographic data is feasible and allows the printing on a 2D medium of the complete heart cycle. Combined with the recent development of online holographic printing, this novel technique has the potential to improve reporting, visualization, and archiving of echocardiographic imaging.     

Human stature: which growth model?

The performance of the 6-parameter model No. 3 of Preece and Baines (1978) for growth in human stature is compared with that of the 5-parameter model No. 1 and of the recent 7-parameter JPPS model (Jolicoeur et al., 1988) on data ranging from birth to adulthood about 27 healthy children from the French auxological survey. Model No. 3 has slightly larger residual mean squares on the average, in spite of its additional parameter, and is less robust than model No. 1. The JPPS model passes through the origin, fits infants as satisfactorily as older children and has much smaller residual mean squares than the models of Preece and Baines. The recently revised 6-parameter model of Kanefuji and Shohoji (1990) is not invariant with respect to time scale. JPPS appears to be the most satisfactory asymptotic model for growth in human stature at the present time.