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We report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary transmission appears to be autosomal dominant with quite variable expressivity.

Objectives: Little is known about the human immunodeficiency virus (HIV) high-risk sexual practices of gay and bisexual African-American men. These data are needed so that better interventions can be developed and implemented in this population., Methods: The frequency and correlates of unprotected anal intercourse were examined among 250 gay and bisexual African-American men in the San Francisco Bay Area. The cohort was recruited in 1990 from bars, bathhouses, and erotic bookstores, and through African-American gay organizations, street outreach, advertisements in gay mainstream and African-American newspapers, health clinics, and personal referral from other participants., Results: More than 50% of the men in our sample reported having unprotected anal intercourse in the past 6 months, a considerably higher percentage than that among gay White men in San Francisco through 1988 and 1989. Men who practiced unprotected anal intercourse were more likely to be poor, to have been paid for sex, or to have used injection drugs; to have a higher perceived risk of HIV infection; and to report less social support for concerns about risky sexual behavior. Condom norms, condom efficacy, and negative expectations about using condoms predicted these men's failure to use them., Conclusion: In the second decade of the acquired immunodeficiency syndrome epidemic, risk reduction programs are still needed for gay and bisexual African-American men.

Several lines of evidence suggest that many cases of Alzheimer's disease (AD) may be due to genetic factors. We used subtraction hybridization to isolate genes that were differentially expressed in AD compared to control brains. Directionally cloned cDNA libraries from AD and control patients' cerebral temporal cortices were used for the production of sense and antisense cDNA using the polymerase chain reaction (PCR). A 30- to 40-fold excess of sense cDNA from Alzheimer's disease brain was photobiotinylated and hybridized to (32)P-labeled antisense cDNA from control brain. The hybridized and unhybridized "driver" DNA was removed by streptavidin binding and phenol extraction. The subtracted antisense cDNA sequences were PCR amplified and cloned into lambda-GEM-4 producing a subtracted cDNA library. This subtracted cDNA library was rescreened using duplicate differential colony hybridization to select specific subtracted clones. An 850-bp cDNA that was overexpressed in the AD compared to the control library was isolated and sequenced. It had >95% homology to cytochrome oxidase subunit 3. Overexpression of this gene in AD brains was confirmed using Northern blots. Since cytochrome oxidase is important for neuronal function, these findings suggest a possible role for this gene in the pathogenesis of AD.

We developed a method for the detection of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers. The method is based on the quantitative analysis of the products of standard multiplex polymerase chain reaction (PCR) from 18 different exons of the dystrophin gene, and is designated "QM-PCR." We detected deletions of one or more exons by standard multiplex PCR in DMD/BMD patients in 14 of 18 families examined (77.7%). The same deletions were readily demonstrated by QM-PCR in nine of 14 mothers (64.3%) and in another six of 22 possible carriers in these families. In five families where deletions were detectable in DMD/BMD patients, the mothers did not exhibit any deletions in their peripheral blood (35.7%). We obtained evidence for germinal mosaicism in at least two of these families and confirmed carrier identification by haplotype analysis using CA repeat polymorphisms at the 5' and 3' ends of the dystrophin gene. Furthermore, analysis of 17 coded DNA samples from normal females and obligatory carriers by QM-PCR showed that this technique could directly identify carriers of deletions in any of 18 different exons of the dystrophin gene. Its application in combination with existing techniques is expected to significantly improve the accuracy of carrier diagnosis in many families, and it may also be applicable to families in which pedigree and polymorphism information is insufficient for carrier diagnosis.

The prevalence of multiple sclerosis (MS) was studied in the Greek-speaking population in the southwestern district of Paphos and the eastern Famagusta area and in the Troodos mountains in Cyprus. Excluding refugees from the northern part of the island, the MS prevalence was 44.5 per 100,000. This is a similar prevalence to that found in Sicily and shows that, like Sicily, Greek-speaking Cypriots have a medium to high and not a low MS prevalence. There was no significant difference in MS prevalence between the warm Paphos and Famagusta areas and the much colder mountainous areas. In one village, Liopetri, there were five families with definite MS (CDMS), and one patient with clinically probable MS (CPMS). Excluding refugees, the prevalence for CDMS and CPMS in this village was 240 per 100,000. All six families are probably related.

The use of macro electromyography to obtain a macro motor unit potential (MMUP) is described. At least 20 potentials are measured from a single muscle to obtain a reasonable estimate of the parameters of an average motor unit potential. The MMUP data are analyzed by means of the peak-to-peak amplitude and the integral of the central 50 ms of the signal. The possibility of using artificial neural networks (ANNs) to analyze the macro data in a way that makes no assumptions about the relationships between the parameters and without recourse to conventional modeling methods is discussed. The results of an analysis carried out on 820 MMUPs recorded from 41 subjects who were classified on the basis of a clinical opinion and the appearance of a muscle biopsy are presented and discussed.

A random sample of 5% of NSW general practitioners was surveyed in December 1986 regarding their attitudes to health promotion in clinical practice. The results were compared with those of simultaneous surveys of trainee general practitioners and fourth-year medical students. Smoking, alcohol and weight reduction were the health behaviours that were considered by general practitioners to be the most difficult to change. More general practitioners than did students or general-practitioner trainees reported finding less difficulty in changing health behaviours. More than three-quarters of the general practitioners were in favour of promoting health in their practices. A commonly reported barrier was the current Medicare financing arrangements for preventive practice. Other barriers included a lack of time for preventive practice. The complaint of a lack of training was expressed commonly; half the sample was willing to participate in advanced training in health promotion that would be organized by The Royal Australian College of General Practitioners.

After surgical evacuation of a subdural hematoma there is a constant relationship between the return of the deep veins to the midline, the clinical recovery and the absence of a new subdural collection, even when the anterior cerebral artery remains deviated across the midline.

Five cases of chronic inflammatory demyelinating polyneuropathy are described in which cranial nerve involvement accompanied a more generalized neuropathy. Clinical, electrophysiological, radiological and nerve biopsy findings are presented. Cranial nerve lesions in this form of polyneuropathy may be related to lesions of the peripheral nerves or of the central nervous system, when they may be accompanied by MRI evidence of more widespread CNS demyelinating lesions. In cases of early onset, the occurrence of focal cranial nerve lesions may serve to distinguish chronic inflammatory from inherited demyelinating polyneuropathies.

The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling autosomal dominant disorder with onset in early adult life, is caused by a point mutation in the transthyretin (TTR; previously known as prealbumin) gene. DNA analysis in thirteen European families (one British, two French, one Italian, one Greek, and eight Cypriot) showed that members of all those from Cyprus and Greece, and one from France, carried the FAP type I mutation. Patients from seven of these ten kindreds were not known to have a genetic disease before this study, which demonstrated the mutation in 16 of 43 clinically unaffected relatives. 2 of these were aged over 50 years. TTR gene analysis has useful applications in genetic counselling, including prenatal diagnosis, in identifying the cause of seemingly sporadic cases of amyloid neuropathy, and in epidemiological studies of FAP.

This study was carried out to compare electrophysiologically the efficacy of autogenous vein grafts, with autogenous nerve grafts as conduits for nerve regeneration. A 0.75-cm segment of sciatic nerve was resected in two groups of Sprague-Dawley rats of equivalent maturity. The nerve gaps were bridged with an autogenous vein graft in the first group (31 rats), and an autogenous nerve graft in the second group (24 rats). Serial in vivo nerve conduction velocity studies and terminal in vitro nerve conduction velocity and nerve action potential measurements were performed. An additional group of 21 animals who had undergone no surgical procedures, were similarly studied to establish an age-adjusted baseline for comparison. Twelve animals in the first group, 14 in the second group, and 13 in the baseline group survived the full year of study. In vivo conduction velocities between the two experimental groups compared favorably. Nerve conduction velocity determined by in vitro technique confirmed this finding and measured similarly at about 78 percent of the baseline. Nerve action potential amplitude in the vein-grafted group was 12.0 percent of the baseline, while the nerve-grafted group was 23.9 percent of the baseline. This study demonstrated that the vein graft compares well with the nerve graft in nerve conduction velocity, but only one-half as well in nerve action potential.