Intra-articular glucocorticoids in early juvenile chronic arthritis

The efficacy of intra-articular glucocorticoid injections in the early phase of knee joint synovitis was studied in 79 children with juvenile chronic arthritis (42 girls and 37 boys). Half of the injections were given within the first six months from the onset of the disease. The probability of a patient staying in remission was much higher in triamcinolone-treated patients than in patients receiving methylprcdni-solone ( p <0.0005, Breslow statistics). Using multivariate analysis there was a significant association between the length of remission and the synovial fluid polymorphonuclcar leucocyte proportion (SF-PMN%. Patients with a high SF-PMN% tended to have shorter remissions than those with a low SF-PMN% (improvement of the fit in stcpwise model: chi-square = 8.81, p <0.005). The difference between triamcinolone and methylprednisolone groups was still clearly evident two years after injection.     

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)

Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia type III) is associated with oesophageal cancer in three families: two large pedigrees located in Liverpool, UK and in the midwestern American states and one smaller family from Germany. In these families, the PPK is inherited as autosomal dominant and has a late onset, usually manifesting between 7 and 8 years of age. The disease is characterised by thickening of the pressure areas of the soles, but is not restricted to the feet and also presents with oral leukokeratosis and follicular hyperkeratosis. The disease locus [previously termed the "tylosis oesophageal cancer gene' (TOC) locus] has been mapped to 17q23-qter by linkage analysis. This region is located telomeric to the keratin 16 gene, in which mutations have been identified in focal PPK families who show no increased cancer risk. We describe the close mapping of this locus to the interval between AFMb054zf9 and D17S1603 using haplotype analysis of additional Genethon markers in the region and show that although the American family is unlikely to be related to either of the other two, the UK and German pedigrees may share a common descent. This work provides a basis for positional cloning and candidate gene analysis in order to identify a gene that may be involved in familial oesophageal cancer.      

Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8‐week‐old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease.     

Electroanatomic characterization of conduction barriers in sinus/atrially paced rhythm and association with intra-atrial reentrant tachycardia circuits following congenital heart disease surgery

INTRODUCTION: The electrophysiologic mechanism of intra-atrial reentrant tachycardia (IART) is generally thought to be a macroreentrant circuit revolving around a nonconductive or highly anisotropic barrier. However, the electrical and anatomic substrate that supports these circuits has been incompletely defined. Our objectives were to characterize the atria of patients with IART using electroanatomic mapping in sinus or atrially paced rhythm and to determine whether electrical barriers identified in sinus/atrially paced rhythm are associated with IART circuits. METHODS AND RESULTS: Eighteen patients with IART and a remote history of repaired or palliated congenital heart disease were studied [8 biventricular repair, 8 single ventricle palliation (7 Fontan), and 2 Mustard repair]. Thirteen patients had a right AV valve. In sinus/atrially paced rhythm, electrical evidence of a crista terminalis was identified in 11 patients, an atriotomy in 12, and > or = 1 right atrial free-wall scar in 11. In 26 IART circuits characterized, 12 used the right AV valve as a central obstacle, 6 used a right atrial free-wall scar, 3 used an atriotomy, 3 used the crista terminalis, and 2 circuits used an atrial septal scar. All central obstacles used by IART circuits were identified in sinus/atrially paced rhythm. CONCLUSION: The crista terminalis, atriotomy, and right atrial scars can be identified in patients with repaired congenital heart disease by electroanatomic mapping in sinus/atrially paced rhythm. These conduction barriers frequently function as the central obstacle for IART. Demonstration of such features may help focus investigational mapping without reliance on spontaneous initiation of the tachycardia.