We studied 30 patients with partial epilepsy and a radiological or pathological diagnosis of localized neuronal migration disorders, with a view to surgical treatment. Eight patients had identifiable prenatal etiological factors. The frequency of complex partial, partial motor, and secondarily generalized seizures was approximately 70% each. Drop attacks were present in 27%: Their presence usually correlated with a lesion involving the central region. Partial motor or generalized convulsive status epilepticus occurred in 30%, and was most frequently associated with extensive structural abnormalities involving two or more lobes. A full-scale intelligence quotient of less than 80 was found in 44%. Magnetic resonance imaging (MRI) was superior to computed tomography for identification of the dysplastic cortical lesions. In one third, MRI showed only subcortical abnormalities. It did not allow distinction between true pachygyria, focal cortical dysplasia, or the forme fruste of tuberous sclerosis. The epileptogenic area was usually more extensive than the lesion; it was multilobar in more than 70% of patients. Of 26 surgically treated patients, a histological diagnosis of the type of neuronal migration disorder was possible in 22: 12 had focal cortical dysplasia and 10 the forme fruste of tuberous sclerosis. In the remaining 4, no definite histological diagnosis was made, since the maximally abnormal tissue could not be examined. In the latter, and in the 4 nonoperated patients, the diagnosis of neuronal migration disorder was based on imaging findings. The presence of the forme fruste of tuberous sclerosis correlated with delayed psychomotor development and more extensive epileptogenic areas.

Objective-To search for genetic association between microsatellite marker loci and sibling pairs with nodal osteoarthritis (NOA).Methods-Using the affected sibling pair method ofanalysis, genomic DNA from 66 sib pairs with NOA was analysed for association with highly polymorphic microsatellite marker loci. The microsatellite markers were amplified using polymerase chain reaction and typed on polyacrylamide gels. Results

A growing body of research illustrates consensus between researchers and practitioners that developing rapport facilitates cooperation and disclosure in a range of professional information gathering contexts. In such contexts, rapport behaviors are often intentionally used in an attempt to facilitate a positive interaction with another adult, which may or may not result in genuine mutual rapport. To examine how rapport has been manipulated and measured in professional contexts we systematically mapped the relevant evidence-base in this field. For each of the 35 studies that met our inclusion criteria, behaviors associated with building rapport were coded in relation to whether they were verbal, non-verbal, or para-verbal. Methods to measure rapport were also coded and recorded, as were different types of disclosure. A Searchable Systematic Map was produced to catalogue key study characteristics. Discussion focuses on the underlying intention of the rapport behaviors that featured most frequently across studies.

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations at the PKD1 locus in most families. This locus has been assigned to the short arm of chromosome 16 by linkage analysis. It has been estimated that approximately 5% of families have a disease that does not map to this locus and most of these families have clinical features indistinguishable from the disease caused by PKD1 mutations. We report a large three-generation Caucasian family from Northern Ireland with ADPKD in whom all affected individuals (age range 22-68) were normotensive and only the two eldest had mild renal impairment. Linkage was excluded between the disease and both the alpha-globin gene complex and the microsatellite marker D16S283. This family confirms that phenotypic heterogeneity exists between unlinked families and that certain non-PKD1 mutations cause mild disease expression. Many such individuals may therefore remain undetected and the incidence of families with ADPKD who have non-PKD1 mutations may be greater than previously estimated.