Ullrich-Turner syndrome in monozygotic twins.

We report on the Ullrich-Turner syndrome in monozygotic twin sisters. The first twin had the syndrome with a 45,X chromosome constitution. The second twin had only minor manifestations of the syndrome with 46,XX/45,X mosaicism.

Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome.

A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra-abdominal testis, a left streak gonad containing follicle-like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X-chromatin negative and a Y-chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45,X/46,XY/46,X + i(Yp)/46,X, + Yq-/47,XYY/47,XY + Yq-.

Percentage malignant involvement: a new concept in staging of breast cancer.

All the recognised systems of clinical staging of breast cancer have failed to provide reliable prognostic estimates of survival since they do not accurately reflect the pathological extent of the disease. In this prospective study of 52 female patients with established primary breast cancer we have measured the percentage neoplastic involvement of the breast at the time of mastectomy. This correlated well with the histological axillary node status, the subsequent development of overt metastatic disease, and survival during a follow-up period of 28-54 months.

Prospective comparison of the fluorescein-dilaurate test with the secretin-cholecystokinin test for pancreatic exocrine function.

In a prospective study of 60 patients undergoing investigation for possible exocrine pancreatic disease the fluorescein-dilaurate test was compared with the secretin-cholecystokinin (CCK) test. Forty one patients had a normal response to secretin-CCK, 14 patients had abnormal responses and in five patients the results were equivocal. Taking the secretin-CCK test as the diagnostic criterion, the fluorescein-dilaurate test had a sensitivity of 100% and a negative predictive value of 100%.

Response of patients to upper gastrointestinal endoscopy: effect of inherent personality traits and premedication with diazepam.

The influence of personality traits on the reaction of patients to upper gastrointestinal endoscopy was studied prospectively in 86 patients. High N (neuroticism) scores on the Eysenck personality inventory were associated with poor tolerance to and future compliance with the procedure. Although premedication with diazepam did not affect the degree of discomfort and distress during the procedure, it guaranteed acceptance of repeat endoscopy by virtue of its strong amnesic effect.

Long term evaluation of a reservoir jejunal interposition with an isoperistaltic conduit in the management of patients with the small stomach syndrome.

The results of reservoir jejunal interposition in 9 patients with severe symptoms of the small stomach syndrome have been reviewed after a median follow-up period of 4.2 years (range 6 months to 10 years). Objective assessment of improvement in terms of weight gain, haemoglobin and serum albumin levels was obtained in all the patients but only 3 have reached and maintained their ideal weight.

Ultrastructural localization of adenosine triphosphatase activity in lymphocytes activated in vitro by phytohaemagglutinin.

The ultrastructural localization of Ca2+, Mg2+-activated ATPase was studied in phytohaemagglutinin activated lymphocytes and in normal unstimulated lymphocytes. Cells, fixed in paraformaldehyde--glutaraldehyde, were incubated in a medium containing 3 mM ATP, 5 mM CaCl2 and 2.4 mM Pb(NO3)2 in 0.

Milk 99Tcm-EHIDA test for enterogastric bile reflux.

The study and clinical assessment of enterogastric bile reflux has been restricted for want of a simple non-invasive test for its detection and quantification. This paper describes such a test in which biliary excretion scintigraphy has been combined and a mild meal provocation. Two of 10 healthy volunteers studied showed probable reflux of approximately 5 per cent of total initial abdominal field activity.

Cytochemical demonstration of increased adenosine triphosphatase activity in lymphocytes activated in vitro by phytohaemagglutinin or by the mixed lymphocyte reaction.

Cytochemical investigations of ATPase activity were performed on lymphocytes isolated from peripheral blood and activated in vitro by phytohaemagglutinin or by the two-way mixed lymphocyte reaction. Uncultured lymphocytes showed very little activity localized in small granules. The activity increased markedly during transformation.

The effect of isoperistaltic jejunal interposition upon gastric emptying.

Ten patients with severe postgastrectomy-postvagotomy symptoms, all of whom had the features of vasomotor dumping, underwent gastric emptying studies, using a 300 milliliter meal of 15 per cent dextrose labeled with 99mTc-sulphur colloid. Studies were repeated two to 11 months following remedial operative treatment, using a 12.5 to 15.

Familial jejunal atresia with 'apple-peel' variant.

We report two siblings who had jejunal atresia which we believe to be familial. The parents of these siblings were first cousins. The first child had jejunal atresia with mesenteric agenesis and 'apple-peel' configuration; the second child had jejunal atresia with a V-shaped mesenteric defect.

Scintiscanning of the breast with 99Tcm-diethylene triamine penta-acetic acid--a prospective blind evaluation.

In this blind prospective study of breast scintiscanning with 99Tcm-diethylene triamine penta-acetic acid (DTPA) in 67 female patients presenting at a primary breast referral clinic, we have observed that this investigation has a high diagnostic accuracy in distinguishing benign from malignant lesions of the breast. The predictive value of the test when positive in establishing the presence of cancer is 94 per cent with a false negative rate of 6 per cent. The predictive value of the test when negative in excluding cancer in 97 per cent with a false positive rate of 3 per cent.

The place of hepatobiliary isotope scanning in the diagnosis of gallbladder disease.

The present trend towards a more aggressive operative policy in acute cholecystitis has led to a search for more accurate methods of diagnosis. A possible contender in this field is hepatobiliary isotope scanning. Ninety-nine patients with right-sided upper abdominal pain were studied after the intravenous injection of 99Tcm-pyridoxylideneglutamate.

Evidence for the flutter valve mechanism of the lower oesophageal high pressure zone.

Simultaneous oesophageal manometry and pH monitoring was performed at rest and during abdominal compression in 189 subjects. The force exerted by the high pressure zone (HPZ) and by its intra-abdominal segment was reduced to the same extent in the 102 subjects who refluxed and the 87 who did not. Reflux during abdominal compression occurred in the subjects whose HPZ force fell into a critical range and in whom the contribution by the abdominal segment was reduced to less than 50 per cent of the total force exerted by the HPZ.