Energy metabolism in normal and hypertrophied right ventricle of the ferret heart.

Using an isolated ferret heart preparation (Langendorff perfusion, perfusion pressure 90 mmHg), energy metabolism has been characterized in right and left ventricles from control and hypertrophied hearts. Hypertrophy was induced by pulmonary artery clipping for 30-45 days (right ventricle wall weight/body weight ratio increased by 70%). Myocardial contents of high energy phosphate compounds, glycogen and lactate, and the activities of some enzymes were biochemically measured in perfused hearts and also after ischemic arrest (30 min global ischemia). In hypertrophied right ventricles, PCr (-46%), Cr (-34%) levels, creatine kinase activity (-18%) were significantly decreased compared with control. ATP and Pi levels were not affected by hypertrophy. The adenylate energy charges were similar (0.85-0.86) in both types of heart. The activities of hexokinase (+26%), aldolase (+212%), pyruvate kinase (+14%) and glucose 6-phosphate dehydrogenase (+107%) were increased by hypertrophy. The LDH isozyme pattern was significantly changed such that LDH3 was decreased by 11%, and LDH4 and LDH5 were increased by a factor 1.4 and 2.9 respectively in hypertrophy. After 30 min of global ischemia, PCr level was decreased by 89 and 79% in control and hypertrophied ventricles respectively. ATP level was depressed by 41 in control and only by 21% in hypertrophied muscles. Altogether, the present data suggested that, in the adult ferret heart, the capacity for the ATP synthesis could be maintained during hypertrophy by the enhancement of the glycolytic pathway. The smaller decline of ATP after ischemia in hypertrophied tissue could be explained by a lower consumption of ATP in the hypertrophied compared to the control heart during the earliest period of ischemia.

Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X-linked vacuolated myopathy.

We have recently reported a French family presenting with an X-linked vacuolated myopathy. Here we show that levels of complement components C5 and C9 are elevated in the serum of these patients. Moreover, antitrypsin activity is decreased in the serum of the patients. Taken with the deposition of membrane attack complex encountered in muscle tissue, these results emphasize the role of complement in the pathogenesis of this rare muscular disorder.

An exceptional genealogy for hereditary chronic pancreatitis.

Nearly one hundred families affected with hereditary chronic pancreatitis (HCP) have been reported in the literature. However, the fact that the disease involved only a few members of each family limits the informativeness of these reports and accounts for the infrequency and disappointing results of pathogenetic and genetic research. Our study concerned an exceptional HCP genealogy which would seem to provide an ideal model for the detection of a genetic anomaly linked to the expression of the disease. We studied 249 members of a family (214 still alive), covering eight generations born between 1800 and 1993. According to the customary criteria, 63 had definite and 17 probable HCP. Fifty-eight members under 18 years of age were still susceptible to developing the disease. This series confirms the mode of autosomal dominant heredity with variable penetrance. The clinical features and disease course were typical, except that symptoms tended to appear earlier. The series represents the most extensive HCP genealogy compiled and is one of the largest families studied in the field of genetic disease, regardless of etiology. Blood samples were taken from 146 subjects to facilitate pathogenetic and genetic research.

Perilymph detection by beta 2-transferrin immunoblotting assay. Application to the diagnosis of perilymphatic fistulae.

beta 2-Transferrin, the asialotransferrin, is found in cerebrospinal fluid (CSF) and inner ear perilymph, but is absent from serum and other body fluids or secretions except the aqueous humor. The detection of this asialo-fraction of the transferrin in ear fluid microsamples with an immunoblotting technique is of great interest when a perilymphatic fistula (PLF) is suspected. beta 2-Transferrin was detected on microsamples collected by syringe or on micro-collagen sponges from 30 patients undergoing ear surgery. The problem is reviewed, the technique and sample preparation are explained and the results discussed. beta 2-Transferrin detection in the ear fluid allows the identification of perilymph, except in the CSF oto- or rhinorrheal context, and is proposed as a promising test to confirm perilymphatic fistula.

X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers.

We describe a probable recessive X-linked myopathy characterized by the presence of vacuolated muscle fibers. Four males and their shared maternal grandfather were affected. Clinical characteristics include juvenile onset, very slow progression, and predominant proximal muscle involvement. The clinical picture and the morphological findings are compared with those previously described in a family. By immunofluorescence, all histologically abnormal muscle fibers, in particular those vacuolated, showed a strong deposition of the complement C5b-9 membrane attack complex over the whole muscle fiber surface. Weak immunostaining for membrane attack complex was also found in endomysial capillaries and perimysial vessel walls. Muscle fibers showed sarcolemmal immunolabeling with anti-major histocompatibility complex I, which was also present on the margins of many vacuoles. All vacuoles were stained by antidystrophin antibody, which colocalized in most of them with antilaminin immunostaining. Taken together, these results suggest that the deposition of membrane attack complex on the damaged cell surface membrane could be important in the pathogenesis of this muscle disorder, and that the membrane-bounded vacuoles could be a consequence of sarcolemmal invagination.

[Correlation between the assay of glycosylated hemoglobin A1c and fructosamine in diabetic patients submitted to a systematic control visit. Establishment of reference values]. / Corrélation entre le dosage de l'hémoglobine glycosylée A1c et celui de la fructosamine chez des diabétiques soumis à une visite de contrôle systématique. Etablissement de valeurs de référence.

The plasmatic glycosyl proteins levels were measured in fifty non diabetic volunteers and thirty five patients with diabetes mellitus by the fructosamine test. The upper limit for healthy volunteers was estimated to 25 mumoles/g protein. A higher fructosamine concentration and greater spread of values were observed in the diabetic group. A very good correlation was noted in the diabetic group between A1C hemoglobin and fructosamine concentrations. This test is very reproducible, inexpensive and should be a good alternative to the A1C hemoglobin determination in some physiologic or pathologic disorders.

[Biological study of a case of analbuminemia]. / Etude biologique d'un cas d'analbuminémie.

A new case of analbuminemia in a fifty-four-year-old French woman is described. The patient was admitted to a hospital cardiology department for thoracic pain. Consanguinity between the patient's parents was established. Proteins were studied both during the acute phase and the subsequent remission. Total serum protein concentrations were stable, around 5.3 g. Hypoalbuminemia was compensated initially by alpha-2-globulins and subsequently by beta globulins. Increases in serum cholesterol and serum beta lipoproteins were recorded. Hydroelectrolytic balance was normal. Orthostatic renin and aldosterone release was significantly increased, denoting response to lowered hydrostatic pressure. A minor increase in serum thyroxin was recorded, probably because of the increase in thyroxin binding globulin.

[Lung cancer with elevated amylase activity. One observation with study of amylase's isoenzymes (author's transl)]. / Cancer intra-pulmonaire isolé avec sécréion inappropriée d'amylase. Une observation avec étude des isoenzymes de l'amylase.

Amylase is composed by two isoenzymes groups: pancreatic or salivary type. This last part can be increased in many diseases. A case of lung cancer with elevated amylase activity in blood, urine and pleural fluid is reported in a 74-year-old man. This increase was due to salivary type isoamylases with an unusual component which disappeared by neuraminidase treatment. The significance and the origin of this hyperamylasemia with non pancreatic cancer are discussed.

[Amylase isoenzyme analysis in an amylase-producing tumour (author's transl)]. / Etude des isoenzymes de l'amylase dans une tumeur pulmonaire secretant d'amylase.

The plasma and pulmonary tumour are studied in a patient with lung metastasis. An abnormal and neuraminidase-sensible isoenzyme is noted both in plasma and tumour. Homogenates obtained from the tumour by two different mechanic disruption procedures denote an easier liberation for the salivary type isoenzymes than for pancreatic types. It is suggested that the salivary enzymes are synthesized in the cytoplasm during many inflammatory processes and secreted without cellular necrosis.