Change in activities of lysosomal glycosidases in skin fibroblasts from controls and patients with cystic fibrosis.
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Biomedical subjects
Publications and source records attributed to F Bertrand.
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Spontaneous arteriovenous fistulae of the vertebral artery are rare (only 41 cases in French and English-language literature). Auscultation regularly discloses a cervical bruit which was found by systematic examination in 30 p. 100 of the cases. Otherwise, the fistula was revealed by unilateral pulsatile tinnitus (30 p. 100) or by a transient vertebro-basilar ischaemic accident (20 p. 100). The main complications, which occurred in 40 p. 100 of the cases, were ischaemic accidents in the vertebro-basilar territory and, primarily in children, heart failure. Prognosis seems to be governed by the patient's age at the time of diagnosis: 6 out of 7 cardiac complications occurred before the age of 10, and only 2 beyond the age of 50; in contrast, the duration and complexity of the fistula do not appear to be prognostic factors. Doppler examination of the neck and head, based on clinical findings, confirms the diagnosis and provides information on a possible blood steal. Arteriography by the arterial route is mandatory before surgery, but it also represents a first therapeutic measure (embolization, or even spontaneous obliteration of the fistula during the procedure, as seen in 4 cases). Asymptomatic forms, for which embolization and surgery may be postponed, can be monitored by ultrasounds.
Between April 1 and June 30 1984, cervical scrapes were taken from 381 women attending the Gynecology Department of the Anticancer Center René-Huguenin. The scrapes were examined for the presence of human papillomavirus (HPV) DNA, by a molecular hybridization method, at the Pasteur Institute. The four HPV types involved in genital pathology, HPV 6, HPV 11, HPV 16 and HPV 18, were studied. Twenty four specimens (6.3%) were found positive: 19 for HPV 16, 3 for HPV 18, 2 for HPV 6 or HPV 11. Results of molecular hybridization were compared with cytological findings. HPV 6 or HPV 11 were detected in cases of mild dysplasia. HPV 16 or HPV 18 were mainly detected in cases diagnosed as severe dysplasia or carcinoma in situ (9 out of 14, i.e. 64.3%), and invasive carcinoma (3 out of 5 cases). The results were further confirmed when virological data obtained with cervical scrapes were compared with the histological diagnosis on biopsies: 14 out of 15 cases of severe dysplasia or carcinoma in situ (93%) and 3 out of 6 cases of invasive squamous carcinoma had been found positive for HPV 16 or HPV 18. Interestingly, four "normal" women (1.3%) with a negative cytology were found positive for HPV 16 or HPV 18. The data obtained by this sensitive and reliable method are useful to the clinician to identify women presenting a high risk of subsequent cervical intraepithelial neoplasia or invasive carcinoma, and, thus, to adapt the treatment and the follow-up of these patients.
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One hundred and sixty-four out of 171 prescribed tests were carried out (96 p. 100) in 48 women aged 70 to 85 years (mean 74,3 years), and 116 men aged 70 to 84 years (mean 73,4 years). The indications were: coronary artery disease (113 cases), cardiac arrhythmias (44 cases), cardiac failure (12 cases), hypertension (9 cases) and assessment of apparently normal subjects (7 cases). The tests were performed on a bicycle ergometer in the upright position; the work load was increased stepwise every 3 minutes with automatic electrocardiographic recording. 37.2 p. 100 of subjects exceeded 90 p. 100 of the maximal predicted heart rate for age; 23.2 p. 100 failed to achieve 75 p. 100 of the target heart rate. There were no serious complications but 4.2 p. 100 minor incidents occurred. The mean maximum work load was 66,5 watts (71.9 W for men and 53.5 W for women). These results show that exercise testing is possible in geriatric patients and provides information of comparable value to that obtained in younger patients. The investigation is safe when performed under strict medical supervision.
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The authors appreciate the possible responsibility of small intestine diverticulosis in three patients with iron deficiency anemia. In the first case, anemia was associated with colo-duodenal fistula. In the second and third cases, because of the negativity of gastric and large bowel investigations, a barium opacification was done, which showed diverticulosis. This was considered as probably responsible for the anemia. After a review of the literature, the authors conclude that small intestine diverticulosis may lead to iron deficiency anemia through chronic blood loss.
Several haematological and immunological parameters were studied before and after a 4-week trial of oral levamisole (300 mg/week) in 15 patients with chronic lymphocytic leukaemia. We found no statistically significant difference in the mean peripheral blood counts of total lymphocytes, E-rosette-forming lymphocytes, monocytes, polymorphonuclear neutrophils, eosinophils and platelets. Mean serum levels of IgG, IgA, IgM, IgD, C3 and C4 were not statistically affected by levamisole nor was the mean lymphocyte stimulation modified by various mitogens (phytohaemagglutinin, concanavalin A, pokeweed mitogen, tuberculin, candidin). The mean IgE level was statistically increased (p less than 0.05) after levamisole administration but remained below the normal upper limit. A high rate (46%) of clinical and haematological adverse reactions (1 patient developed thrombocytopenia) was associated with levamisole administration. These results suggest that levamisole, as given in this trial, has no obvious beneficial effect and cannot be recommended in patients with chronic lymphocytic leukaemia.
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Zinc, an important enzymatic cofactor, takes part in numerous metabolic pathways. In man, zinc deficiencies may be due either to deficient absorption or to excessive use. In this study in 285 patients hospitalized in a department of internal medicine for acute or chronic conditions, serum zinc assays have shown the following results: serum zinc concentrations are significantly decreased in acute critical conditions (cardiovascular ischemic disorders, heart failure, infections); in chronic conditions, serum zinc is decreased in some instances (renal failure, cancer, alcoholism, diarrhea), while it remains normal in others (compensated heart failure, non-insulin dependent diabetes, arterial hypertension, obesity). The fall in serum zinc concentrations is usually correlated with the severity of the clinical condition.
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Occurrence of a renal failure in an infected patient may be referred to various causes: infection, renal toxicity of drugs (for instance aminoglycosides), shock . . . Determination of some urinary enzymatic activities might be helpful in unravelling the mechanism involved in such cases. Therefore a prospective study of the specificity of some urinary enzymatic activities was performed. The whole LDH activity, the LDH isoenzyme 5 (LDH 5), and two lysosomal enzymes, N-acetyl-beta-D-glucosaminidase (NAG) and beta-glucuronidase (beta-GLU) were dosed systematically, in several groups of patients: I (n = 34): healthy control, with normal renal function; II (n = 24): renal impairment, without recent upper urinary-tract infection (UTI) or aminoglycoside treatment; III (n = 27): upper UTI without aminoglycoside treatment, IV (n = 22): patients treated with aminoglycosides (without upper UTI); V (n = 16): upper UTI treated with aminoglycosides. Results showed a rather good specificity of whole LDH and LDH 5 for infectious kidney damage, and of NAG for tubular injury due to aminoglycoside treatments. Values of urinary beta-glucuronidase varied over a wide range; they were little increased in group III, without a great discriminative value. No significant difference was noted between group I and group II, for any enzyme whatever.
In view of the importance of a rapid aetiological diagnosis in septicaemia, we compared the results of subculture, Gram staining and acridine orange staining in the detection of positive blood cultures. The study was based on 1013 blood cultures of which 138 were positive by culture. The three techniques were applied 12 h after the specimen was taken in 210 instances, at 24 h in 540 instances and after 48 h in 525. We were able to demonstrate the value of direct examination. Staining with acridine orange yields more positive results than Gram staining and is also simpler.
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In case of an anaphylactoid accident, immunological and allergological investigation is to be performed in two parts: immediately after the accident (plasma histamine determination, C3 immunoelectrophoresis, basophil count) and four to eight weeks afterwards, investigating for anaphylaxis (intradermal tests, human basophil degranulation test, Prausnitz-Küstner test) and for risk factors (anomalies of histamine release and hyperreactivity to histamine, atopy, spasmophilia, drug allergies, previous administration of the involved substances). The investigation allows the involved mechanism as well as the responsible drug to be ascertained, thus allowing to manage the anaesthetic procedure in the light of the findings.