Congenital cardiac malformations in Adams-Oliver syndrome

Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome.     

Congenital left atrial wall aneurysm in a patient with neurofibromatosis

A congenital intrapericardial aneurysmal dilatation of the left atrial wall was found in a 28 year old man who presented with atrial fibrillation after a syncopal event. The patient had cutaneous manifestations of neurofibromatosis. The diagnosis was made by cross sectional echocardiography and confirmed by angiocardiography. Surgical excision of the aneurysm resolved the symptoms.     

Interstitial deletion of 10q: Clinical features and literature review

We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and “dysplastic” pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies. © 1992 Wiley-Liss, Inc.     

Variation in the diagnosis of vesicoureteric reflux using micturating cystourethrography

  Variability in the interpretation of micturating cystourethrography by paediatric radiologists for the diagnosis of vesicoureteric reflux in children was evaluated. All 265 micturating cystourethrograms (MCUs) that were available from 304 consecutive children aged 0.5 – 61 months  –  who were investigated after their first urine infection between 1993 and 1995 as part of a prospective cohort study  –  were selected for interpretation. Three experienced paediatric radiologists from the same department independently interpreted the MCUs according to the grading system of the International Reflux Study in Children, from grades 0 to V, with the presence of intrarenal reflux also noted. Apart from being informed that urine infection was the indication for the MCU, no other clinical information was given to the radiologists. The indices of variability used were the percentage of agreement and the kappa statistic, expressed as a percentage. Both measures were weighted with integers representing the number of categories from perfect agreement. Disagreement was analysed for children and kidneys. For the diagnosis of vesicoureteric reflux in individual patients, including grade, the percentage of agreement was 96% – 97% (kappa 90% – 91%) and the weighted percentage of agreement was 96% – 98% (weighted kappa 93% – 94%). The same high level of agreement was present for individual kidneys, with a percentage of agreement of 97% – 98% (kappa 89% – 92%) and a weighted percentage of agreement of 98% – 99% (kappa 94% – 95%). There was near perfect agreement in the interpretation of radiological micturating cystourethrography among three experienced paediatric radiologists for the diagnosis and grade of vesicoureteric reflux. Any variations in the medical care of children suspected of having vesicoureteric reflux are not explained by differences in the reporting of this diagnostic test. Received June 19, 1996; received in revised form November 1, 1996; accepted December 6, 1996     

Serial angiographic findings during the development of a saccular aneurysm of the coronary artery in association with unstable angina.

A 60 year old man presented with unstable angina and electrocardiographic features suggestive of disease of the left anterior descending coronary artery. Angiography showed slight proximal narrowing in this artery with reduced density of contrast that suggested an associated thrombus. Repeat angiography after 24 hours of heparin administration showed the development of a small saccular aneurysm. Three weeks later, after a further episode of unstable angina, angiography showed enlargement of the aneurysm. Although there were no further episodes of angina, repeat angiography three months after the initial event showed further slight enlargement of the aneurysm. It is suggested that the episodes of angina at rest were secondary to embolisation of thrombotic or atheromatous material or both.     

Timing of different virus neutralizing 19S and 7S antibodies in natural Coxsackie infections of newborn babies and adults

Neutralizing Coxsackie antibodies arising from natural infections with Coxsackie virus type B3 or B5 were studied in adults and newborn babies. No differences could be found between the antibody response of the newborn babies and that of the adults.

The antibody titres rose approximately as rapidly in the babies as in the adult patients, and the means of the peak titres did not differ significantly in the two groups. Early in the infection the neutralizing antibodies of both newborn babies and adults were exclusively IgM. There was a gradual shift to IgG in the course of 3 months, and this shift was as rapid in babies as in adults.