Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.

Cross-correlation analysis of multi-unit EMG recordings in man.

This paper discusses the measurement of synchrony between 2 multi-unit EMG recordings. The suitability of a number of previously described indices of synchrony is reviewed. A new index of synchronisation is proposed. This index is independent of the number of units contributing to the correlogram but is dependent upon their firing frequency and upon the bin width of the correlogram. The autospectral density function calculated from each multi-unit record is used to estimate motor unit firing rates. The relationship between the frequency of firing and the chosen index of synchronisation is reciprocal such that if the firing rate is doubled, the index is halved. This may be explained if the proportion of events that is synchronized remains constant and is independent of the firing rate. It is argued that this in turn indicates that the proportion of common and non-common sources driving the neurons also remains unchanged in these experiments. In these circumstances, and to take into account changes in unit firing that may be present in different recordings, it is convenient to normalize an experimentally determined index E/M at a frequency f to some standard frequency fs. The problem of superimposition of spikes that occurs as the contraction strength is increased is discussed.

Nodal and terminal sprouting from motor nerves in fast and slow muscles of the mouse.

1. A study of nodal and terminal sprouting in fast and slow muscles of the mouse hind limb has been made using the zinc iodide and osmium tetroxide stain. 2. The terminal sprouting normally elicited by botulinum toxin injection can be prevented by regular and frequent direct electrical stimulation of the muscle fibres. But the number of end-plates innervated by nodal sprouts in partly denervated spinal preparations was not reduced by direct muscle stimulation. 3. In leg muscles given varying doses of botulinum toxin the amount of terminal sprouting was linearly related to the degree of paralysis. In partly denervated muscles neither the amount of terminal sprouting nor the amount of nodal sprouting was correlated with the degree of denervation. 4. Partial denervation causes relatively more nodal sprouting in the fast muscles peroneus tertius and extensor digitorum longus than in the slower soleus muscle, which itself has considerably more terminal sprouting than the others. The fast muscles can develop as much terminal sprouting as the soleus only in response to full paralysis with botulinum toxin. 5. No evidence could be found for a sprouting signal generated or spreading within the spinal cord. 6. It is concluded in confirmation of earlier work (Duchen & Strich, 1968; Brown & Ironton, 1977 a) that the source of the signal for terminal sprouting is denervated or otherwise inactivated muscle fibres, whose action is boosted by the presence of degenerating nervous tissues. It is suggested that fast muscles probably have less terminal sprouting when partly denervated than slow muscles (a) because of the longer time it takes a fast muscle to undergo the changes associated with inactivity and (b) because of their higher resistance to the effects of nerve degeneration. It does not seem that the signal for nodal sprouting comes from the muscle fibres but further experimentation is needed to establish this firmly.

Sprouting and regression of neuromuscular synapses in partially denervated mammalian muscles.

1. The capacity of motor units to sprout after partial denervation and the ability of regenerating axons to suppress newly formed sprouts was examined in mouse skeletal muscle. Most experiments were performed on the peroneus tertius muscle which has 300 muscle fibres and eleven motor units ranging in strength from 1 to 35% of the total muscle tension. 2. Individual units, regardless of starting size, were able to sprout by up to 5 times their normal size following interruption of one of the two spinal roots innervating the muscle. In practive this resulted in muscles which had three or more units left intact becoming completely innervated again within 12 days. The majority of the sprouts probably innervated the old denervated end-plate sites. In the absence of re-innervation by the severed motor axons the sprouts persisted. In peroneus tertius about 60% of the sprouts giving rise to end-plates arose terminally and 40% collaterally. In soleus almost all the sprouts were terminal. 3. Re-innervation of the muscle by the severed motor axons occurred, starting from 14 days onwards after a crush injury, 19 days onwards after a cut. Re-innervation occurred even in muscles which presumably had no remaining denervated muscle fibres at the time regenerating axons reached the muscle. The re-innervating fibres grew to the original end-plate sites. 4. Following re-innervation the size of sprouted motor units apparently decreased. Thus, after re-innervation of muscles with three or more sprouted motor units, the sprouted units no longer caused contraction of all the muscle. However, the normal state of the muscle was not restored and the sprouted units continued to innervate more muscle fibres than normal, returning axons less than normal, and a small percentage of muscle fibres (ca. 10%) remained functionally innervated by axons of both sorts. 5. It is concluded that (i) in the mouse, axonal sprouting is a rapid and efficient process for restoring innervation; (ii) re-innervation of already innervated fibres can occur if the regenerating axons can return to existing end-plate sites; (iii) some of the redundant innervation is removed or repressed. 6. Possible mechanisms of competition between axon terminals are considered.