Duchenne muscular dystrophy: Carrier detection by ultrasonic imaging techniques

Duchenne muscular dystrophy: Carrier detection by ultrasonic imaging techniques

ABSTRACTS, ULTRASONIC IMAGING AND TISSUE CHARACTERIZATION .‘;YMPOSIlJM The images resulting from cross-sectional images were taken from a calf. the...

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ABSTRACTS,

ULTRASONIC IMAGING AND TISSUE CHARACTERIZATION

.‘;YMPOSIlJM

The images resulting from cross-sectional images were taken from a calf. the addition of many B-scans taken from different directions are free not only of speckle but also of the shadowareas behind bones found in conventional B-scan images. The complete outlines of the bones are made visible and the muscle tissue at its boundaries can be clearly recognized.

DUCHENNE MUSCULAR DYSTROPHY: CARRIERDETECTIONBY ULTRASONIC IMAGING TECHNIQUES,Hans-Dieter Rottl and Klaus Newerla', lInstitut f. Humangenetik, University of Erlangen, and *Siemens AG, Zentralbereich Technik, D-8520 Erlangen, FRG. Duchennemuscular dystrophy (DMD) is an X-linked hereditary disease which affects boys only and is transmitted by health women. The detection of such carriers is most important for genetic counseling of inflicted in these females about one half of families. According to X-inactivation, muscle fibers becomesdystrophic and is partially replaced by fatty and connective tissue, while the remaining intact fibers get hypertrophic and allow normal muscular function. This changed muscular tissue structure can be visualized by ultrasound. For this study, sectional views were made from thigh and calf musculate. The conditions and results of the study are summarized below:

Technique CompoundUS X-ray CT us - CT Real-time US

Date Study Began Oct. '80 Nov. '82 Oct. '03 Jan. '84

Possible 37 30 8

Carriers Definite1 13 7 1

Controls 10 7 5

Regions Studied thigh thigh, calf calf thigh, calf

lAccording to pedigree and CK findings On the basis of these studies it can be stated that (a) imaging techniques provide important additional information for DMDcarrier detection; (b) these techniques are especially suited to the adult, where creatin kinase levels are often normal; and (c) x-ray and ultrasound techniques reveal different characteristics of tissue changes. While ultrasound indicates primarily an increased connective tissue infiltration, x-ray CT displays fatty displacement of dystrophic muscle fibers. DIFFRACTIONTOMOGRAPHY OF COMPLEX OBJECTS,J.F. Greenleaf', B.S. Robinson', M. Kaveh' and P. Thomas', 'Department of Physiology and Biophysics, Mayo Clinic, Rochester, MN 55905, and 2Department of Electrical Engineering, University of Minnesota, Minneapolis, MN 55455. Tissue phantoms mimicking the ultrasonic characteristics of the human breast were insonified with a specially designed cylindrical transducer that insonified a thin (5 mm)plane within the object at frequencies from 1 MHz to 2.5 MHz. The forward-scattered ultrasonic wave was detected by scanning a small hydrophone along a line in the insonified plane on the opposite side of the object. The received signal was digitized and used to estimate the distribution of complex refractive index within the object using principally the Fourier inversion method for the Rytov approximation to the Helmholz equation as described by Kaveh et al [l]. Methods of calculating absolute phase are discussed and the visual effects of frequency, interpolation method, and number of projection views on the resulting images are described.

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