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At least 955 records · Page 53Linked to original sources
PubMed1989

Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence and course of cardiac rhabdomyomata at different ages. Twenty five (58%) of 43 children had tumours, but only three (18%) of 17 adults. The tumours tended to remain the same size through childhood. Only three infants were included but evidence from this and some published case reports suggest that the tumours tend to regress in early infancy and again in adolescence. The prevalence of tumours in young infants with tuberous sclerosis is likely to be considerably above 50%. As other signs of tuberous sclerosis are usually absent at this age echocardiography may afford the most useful diagnostic test in early infancy.

Adolescent↗
PubMed1981

Clinical presentation and non-invasive diagnosis of right heart masses.

Right-sided cardiac masses do not have a uniform clinical presentation. Successful diagnosis is dependent on a high index of suspicion and appropriate echocardiographic examination. Five cases of right sided intracardiac masses have been detected during the period that echocardiography has been routinely available to us--two of right atrial myxoma, one of right atrial thrombus, and two of right ventricular tumour. M-mode echocardiography identified four of the five cases. Two-dimensional echocardiography was necessary to establish the non-invasive diagnosis in the fifth case. Echocardiography should be used in any patient in whom a right sided mass is suspected, or in those patients presenting with signs of tricuspid regurgitation, tricuspid stenosis, pulmonary stenosis, cyanotic heart disease, progressive right heart failure, constrictive pericarditis, or pulmonary emboli without obvious source.

Adult↗
PubMed1986

Study of childhood renal tumours using antisera to fibronectin, laminin, and epithelial membrane antigen.

Using a peroxidase-antiperoxidase staining procedure, formalin fixed paraffin embedded sections of fetal and normal kidney; benign (mesoblastic nephroma); and malignant tumours (Wilms' tumour, clear cell renal carcinoma, rhabdoid renal tumour, and bone metastasising renal tumour of childhood (BMRTC] were examined for their reactivity with antisera to fibronectin, laminin, and epithelial membrane antigen. Mesoblastic nephroma contained fibronectin but no laminin. Most Wilms' tumours lacked both fibronectin and laminin; 50% of rhabdoid renal tumours were positive for fibronectin and laminin--rhabdoid tumours as recognised morphologically may, in fact, be two separate entities. BMRTC and clear cell renal carcinoma lacked both fibronectin and laminin. Epithelial membrane antigen was present in most of the tubular Wilms' tumour but absent in blastemal Wilms' tumours. The presence of epithelial membrane antigen in rhabdoid tumours was surprising, as histologically, this type of tumour shows no sign of epithelial differentiation. Epithelial membrane antigen antiserum stained clear cell renal carcinomas: epithelial membrane antigen is found in the distal and not the proximal tubules of fetal and normal kidneys. Thus an obvious interpretation is that clear cell renal carcinomas originate from distal rather than from proximal tubules, as has always been thought. On the basis of these results and data from other published findings some possible histogenetic origins of childhood renal tumours were proposed.

Adenocarcinoma↗
PubMed1986

Approaches to the demonstration of congenital heart disease.

Advances in antenatal screening techniques have increased the interest in obtaining a detailed pathological correlation with the ultrasonographic findings obtained before death. As a consequence, inadequacies in traditional methods used by pathologists to display congenital malformations have been brought to light. We describe a simple technique of inflation and wax impregnation for the permanent proof of congenital heart defects that can be used in routine perinatal necropsies.

Autopsy↗
PubMed1991

Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.

Multiple cardiac rhabdomyomata were discovered on necropsy tissue review of a previously well child with megacystis-microcolon-intestinal hypoperistalsis syndrome, who died unexpectedly at home at 40 months of age. Multiple cardiac rhabdomyomata occur rarely and have not previously been reported with this syndrome. They are most frequently associated with tuberous sclerosis. The finding of multiple cardiac rhabdomyomata in this patient suggests the possibility that these two rare conditions may be associated. Putative gene loci for tuberous sclerosis have been assigned to the long arms of chromosomes 9 and 11 and it is possible that the cardiac rhabdomyomata seen in this patient are a serendipitous indicator of the location of the megacystis-microcolon-intestinal hypoperistalsis gene.

Chromosome Mapping↗