Biomedical subjects
Publications and source records attributed to A Cuschieri.
We present a family with numerous first cousin marriages and several members affected with spondyloepiphyseal dysplasia tarda with progressive arthropathy causing severe crippling and deformity. The extensive pedigree provides strong evidence for autosomal recessive inheritance.
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. The literature on the Ullrich-Turner syndrome in twins is reviewed.
A consecutive series of 239 patients experiencing 336 separate attacks of acute pancreatitis have been treated with fresh frozen plasma during the first 5 days of the illness. Using established criteria, 96 attacks occurring in 69 patients were judged to be severe at the time of admission. The overall mortality was 3.7 per cent per patient population and 2.7 per cent per total number of separate attacks. Four of 69 patients with severe pancreatitis (5.8 per cent) have died and the mortality rate for the 96 severe attacks was 4.2 per cent. No complications which could be directly attributed to fresh frozen plasma were encountered in the series. The results of this prospective pilot study with naturally occurring human proteinase inhibitors have been encouraging and indicate the need for randomized clinical trials.
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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-.
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.
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In a study involving 86 fine needle cell aspirates from patients with breast lumps attending a primary Breast Referral Clinic, we have been unable to confirm that cellular binding of Cal antibody reliably differentiates between benign and malignant disease of the breast. The test carried unacceptable predictive values (46% when positive and 70% when negative). The false positive and negative rates were 47.2% and 36.4% respectively. A skilled cytologist using conventional Papanicolaou staining gave a much more accurate interpretation of the benign or malignant nature of the aspirates than did Cal antibody binding.
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.
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. By contrast, not giving premedication to patients who were anxious and had high N scores jeopardized future compliance. These findings suggest that a version of the Eysenck personality inventory should be used to assess patients' neurotic phenotype and their need for premedication before endoscopy. Alternatively, all patients might be given premedication.
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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. Among 73 patients studied, 37 patients showed definite reflux of up to 47 per cent. Reflux occurred in 19 of 22 post-gastric surgery patients and in 7 of 22 patients with peptic ulcer disease, gastritis or gastro-oesophageal reflux. None of 7 patients with 'non-specific' abdominal pain showed any reflux, but 11 of 22 patients with gallstone disease or previous cholecystectomy showed reflux of up to 35 per cent, including 9 of 11 patients with loss of gallbladder reservoir function.
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. No patient has been rendered symptom free, but significant improvement of the post-cibal symptoms was observed in 7 patients. The most common residual symptoms have been heartburn and postprandial epigastric fullness. These have improved with metoclopramide therapy.
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 0.1 M tris buffer at pH 8.5, the optimum pH for histochemical demonstration of this enzyme. Reaction product was localized in the endoplasmic reticulum, nuclear membrane, Golgi apparatus and mitochondria and on the membrane surrounding large electron-dense bodies. Cytoplasmic vesicles and the plasma membrane were negative. Activity in unstimulated lymphocytes showed a similar localization but the amount of endoplasmic reticulum was much less than in activated lymphocytes. The pH of the medium was critical for the localization of the enzyme. At pH 7.5, the cytoplasmic reaction was almost completely inhibited but a dense precipitate was present on the outer surface of the plasma membrane. The reaction was stimulated by either Ca2+ or Mg2+ and was greatly decreased in the absence of these cations or in the presence of p-chloromercuribenzoate or N-ethylmaleimide. Oligomycin inhibited selectively the reaction in mitochondria but not the reaction at other sites. While the reaction in mitochondria showed complete substrate specificity, a mild reaction was obtained at the other sites with uridine diphosphate or sodium beta-glycophosphate as substrate. ATP was, however, the preferential substrate.
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. In fully transformed and actively proliferating cells, the ATPase activity was intense and localized in a crescentic perinuclear area of cytoplasm which was pale-staining and vesicular in Giemsa-stained preparations. In mitotic cells, the activity was in discrete granules or elongated structures suggestive of mitochondria, scattered throughout the cytoplasm. The ATPase activity had a pH optimum of 8.5 to 9.5 and was strongly inhibited at pH 7.5. The activity was stimulated by Ca2+ and Mg2+ and was inhibited by p-chloromercuribenzoate but not by oligomycin, which appeared to enhance the reaction. Lead nitrate at a concentration of 3 mM did not inhibit the reaction.
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%. There was a 54% false-positive rate. The fluorescein-dilaurate test is easy to perform and is a useful screening test for pancreatic exocrine insufficiency.
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