Noise reduction in MR angiography with nonlinear anisotropic filtering

PURPOSE: To evaluate three-dimensional nonlinear anisotropic filtering in suppressing image noise in high spatial resolution magnetic resonance angiograms (MRA) acquired with hybrid undersampled projection reconstruction and phase contrast vastly undersampled isotropic projection reconstruction (PC-VIPR). MATERIALS AND METHODS: Three-dimensional nonlinear anisotropic filtering was quantitatively analyzed and evaluated through the measurement of contrast to noise ratio (CNR) in PC-VIPR images and contrast enhanced peripheral MRA images. To filter MRA images with ultra-high spatial resolution and poor CNR, a spatial frequency dependent nonlinear anisotropic filtering algorithm was proposed that uses two-step processing to filter the whole spatial frequency data. RESULTS: Three-dimensional nonlinear anisotropic filtering was shown to be effective in suppressing noise and improving CNR in MRA with isotropic spatial resolution. Higher CNR was achieved using spatial frequency dependent nonlinear anisotropic filtering. A typical CNR gain of between 50-100% was shown in our studies. CONCLUSION: Three-dimensional nonlinear anisotropic filtering significantly improved CNR in MRA images with isotropic spatial resolution. Spatial frequency dependent nonlinear anisotropic filtering further improved CNR for MRA images with ultra-high spatial resolution and low CNR.     

Genetics of type 1A (immune mediated) diabetes

Type 1A (immune mediated) diabetes is genetically heterogeneous with important examples for man and animal models with major mutations (autosomal recessive and X-linked recessive) identified as well as oligogenic/polygenic inheritance. For the most common forms of type 1A diabetes alleles of DQ and DR within the major histocompatibility complex are important determinants of disease and allow identification of high risk individuals at birth. Further understanding of both common and rare genetic determinants of type 1A diabetes will contribute to understanding the pathogenesis of diabetes and of autoimmunity.     

Epidemiologic,clinical, biological and therapeutic aspects of Gaucher disease

GENERAL CHARACTERISTICS: Gaucher's disease is a genetic disease of autosomal recessive transmission due to a deficit in a lysosomal enzyme: beta-glucocerebrosidase. The disease is characterised by deposits of glucosylceramide in the cells of the liver, spleen and bone marrow. Acute or chronic neurological forms (type 2 and 3) account for only 5% of patients suffering from Gaucher's disease and are less frequent than the non-neurological forms (type 1). CLINICAL AND BIOCHEMICAL MANIFESTATIONS: Gaucher's disease is associated with spleno- or hepato-megalia, asthenia, bone complications (Erlenmeyer flask deformity, osteopenia and osteonecrosis), as well as with haematological (thrombopenia, anaemia) or biochemical abnormalities (increase in angiotensin-converting enzyme, ferritin, tartrate-resistant acid phosphatase and chitotriosidase). Central nervous system involvement is only found in the type 2 and 3. Diagnosis relies on measurement of beta-glucocerebrosidase activity in the circulating leukocytes. REGARDING TREATMENT: Treatment with enzyme replacement (imiglucerase: recombinant enzyme preparation) improves the haematological abnormalities, hepatosplenomegalia and quality of life in a matter of a few months. Regression of the bone disorders is usually observed only after 3-4 years of treatment. Recently, gene therapy trials have successfully been started.     

Site -2548 of the leptin gene is associated with gender-specific trends in newborn size and cord leptin levels.

OBJECTIVE: Circulating leptin levels positively correlate with adult BMI and size at birth. Previous studies found gender-specific associations between polymorphisms in the leptin gene and postnatal obesity-related traits or circulating leptin levels. We examined the relationships among leptin gene polymorphisms, size for gestational age, umbilical cord leptin, and gender. METHODS: Six single nucleotide polymorphisms (SNPs) were genotyped in the leptin gene in 261 newborns (72 low birth weight Caucasians, 189 randomly-selected African-Americans). In African-Americans, umbilical cord leptin and free testosterone levels were measured. Linear regression was used to identify significant predictors of size for gestational age or cord leptin levels and gender x genotype interaction effects. RESULTS: There is a significant interaction between gender and genotype at site -2548 (A/G). Among low birth weight Caucasians, the A allele was associated with an increase in female size for gestational age, while the A allele was associated with decreased male birth size. Among African-Americans, the A allele was associated with a decrease in umbilical cord leptin in females and with an increase in cord leptin in males. Cord testosterone levels were not a significant predictor of cord leptin levels either among all African-American newborns or among strata of -2548 genotypes and gender. CONCLUSION: In male and female fetuses, site -2548 of the leptin gene may differently affect the expression level of the leptin gene or the rate of fetal growth. This gender-specific effect does not appear to be mediated by the level of free testosterone at delivery.     

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.     

Short stature with pigmentation

Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.     

3D contrast-enhanced MR angiography using fluoroscopic triggering and an elliptical centric view order

Although a variety of timing techniques and data acquisition strategies have been used for three-dimensional contrast-enhanced MR angiography, many are still limited by inadequate overall reliability, limited spatial resolution, or complexity. A technique is presented in this work in which contrast arrival is detected in the targetted vasculature in real time using MR fluoroscopy. Upon detection the operator triggers a 3D MR angiographic acquisition which uses an elliptical centric view order. It is shown that the view order intrinsically provides a high degree of venous suppression which in turn allows acquisition times of 30seconds or longer, permitting high spatial resolution. The reliability of fluoroscopic triggering in bolus detection is shown to be over 90%. The technique provides high quality contrast-enhanced MR angiograms for many vascular regions.     

Use of preformed hydroxylapatite blocks for grafting in genioplasty procedures

Dense hydroxylapatite is a synthetic, biocompatible, immunologically inert material that can establish a chemical union with bone when placed in intimate contact in histologic studies. The following is a preliminary report of the use of preformed dense, non-resorbable hydroxylapatite blocks as a grafting material for use in advancement and vertical lengthening of the bony chin associated with orthognathic surgical procedures. In rare instances where an autogenous bone graft would be required for vertical lengthening without any advancement of bony pogonion, the need is obviated by utilization of the hydroxylapatite solid block.