Biomedical subjects
Publications and source records attributed to C Bruno.
The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.
We report a fully automated method for determining dibucaine number (DN) in a single-run procedure involving Dimension cholinesterase (CHE) Flex pseudo-(P)CHE reagents. The method was developed and optimized with the "open channels" and "kinetic" software facilities of the Dimension-ES instrument, where the DN is calculated automatically by an algorithm from the ratio of the uninhibited and inhibited rates, measured bichromatically, from a single analysis. The protocol was satisfactorily assessed for substrate depletion, linearity, reagent stability. and the effects of different dibucaine concentrations. Validation was performed across a range of CHE activities (1.5-22 kU/L) representing the three main genotypes, UU, UA, and AA. The respective DNs (mean +/- SD), determined on the Dimension-ES, were 82.0 +/- 1.6 (n = 32), 71.0 +/- 3.1 (n = 10), and 23.0 +/- 2.7 (n = 14), with corresponding imprecisions (CV) of 0.3%, 0.6%, and 5.2% (intraassay) and 0.7%, 0.7%, and 8.6% (interassay). Comparisons with reference (x) laboratory values and the DuPont aca (x') procedure (n = 53) gave regression equations of: y = 0.88x + 11.2, r = 0.99, and y = 0.85x' + 11.9, r = 0.99. A separate trial conducted with a Dimension-AR instrument gave similar performances. We conclude that the new DN method is fast, efficient, and appropriate for clinical use.
Explore the source record for details and available documents.
The present study describes cause-specific mortality of asbestos cement workers in the Emilia Romagna region of Italy. The cohort included workers in ten factories, most of which started operating between 1955 and 1965. Asbestos, mainly chrysotile, constituted 10%-20% of the dry component of the mixture. Crocidolite range between 5% and 50% of total asbestos. Asbestos concentrations up to 44 ff/cc were reported prior to 1975, while in recent years they have usually been below 0-1 ff/cc. The cohort included 3341 workers who had at some time been employed in the ten factories under study. Their mortality experience was compared with that of the population resident in Emilia Romagna. Vital status was ascertained at 1989. Seventy-three subjects were lost to follow-up (2.2%). Mortality from all causes and from all types of cancer was increased in the cohort. Malignant neoplasms of the respiratory tract showed a significant increase (SMR: 134; 90% confidence interval: 101-175; 40 observed) due to lung cancer (SMR: 124; 90% confidence interval: 91-166; 33 observed) and neoplasms of the pleura, mediastinum, and other parts of the respiratory tract (SMR: 602; 90% confidence interval 237-1267; 5 observed). The discrepancy between observed and expected mortality mainly concerned subjects with at least 20 years of employment in the factories. Five more cases of histologically confirmed mesothelioma occurred after the end of follow-up.
Myophosphorylase deficiency or McArdle's disease is rarely recognized in childhood. The onset is generally in adolescence or in adult age with exercise intolerance, muscle cramps and myoglobinuria. Two siblings of 6 and 2 years of age are described. The first patient showed early fatigue and both had elevated CK levels. Morphological and biochemical studies of muscle biopsies revealed a defect of myophosphorylase.
A peptide recently isolated from human and bovine brain, Tyr-W-MIF-1 (Tyr-Pro-Trp-Gly-NH2), was tested for its effects on nociception in the tail-flick test after intracerebroventricular injection in the rat. Tail-flick latencies were significantly increased with a rapid onset and remained significantly elevated for at least 50 min. Naloxone reversed the effect of the peptide, indicating opiate receptor involvement in the response. Met-enkephalin at the same dose produced only slight antinociception. Some animals showed 'barrel-rolling' behavior in addition to the analgesia; this behavior was unusually short-lived, not a prerequisite for the analgesia, and had no apparent persistent effects. The results show that, in addition to previously described opiate-like actions (binding to the mu-receptor and inhibition of electrically induced contractions of the guinea pig ileum), Tyr-W-MIF-1 is capable of inducing significant analgesia.
Biological molecules of various molecular weights were successfully linked to polystyrene microtitration plates bearing carbonyl and hydroxyl reactive groups. Cross-linking of proteins, nucleic acids and haptens was carried out with water soluble carbodiimide. The covalent nature of the binding reaction was demonstrated by the immunodetection of a hapten linked to the surface through a disulphide spacer arm and its subsequent release by cleavage of the bridge. The amount of protein fixed per surface unit could be correlated to molecular weight. Nanograms of biotinylated nucleic acids and synthetic polynucleotides could also be retained on the solid support.
Branching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and 1 African-American and 3 Caucasian patients with the same clinical and pathological features. Branching enzyme activity was normal in the muscle specimens from both Jewish and non-Jewish patients. However, the activity was markedly decreased not only in the leukocytes from the 2 Jewish patients (confirming previous findings), but also in peripheral nerve specimens, whereas it was normal in nerve tissue and leukocytes from all non-Jewish patients. These data confirm a branching enzyme deficiency in a subgroup of patients with adult polyglucosan body disease, and show that the defect is tissue-specific, suggesting that adult polyglucosan body disease has more than one biochemical basis.
Bilobalide, a terpene extracted from the leaves of the Ginkgo biloba tree, has been proposed to exert trophic and protective effects on neurons and on Schwann's cells in various neuropathies. The reinnervation of the extensor digitorum longus muscle following traumatic nerve damage was investigated in rats by using electrophysiological and histological techniques. Evaluation parameters included the membrane resting potential of muscle cells, the spontaneous quantal release of acetylcholine, and the percentage of muscle cells receiving multiple innervation. The percentage of muscle cells receiving multiple innervation reached a peak more rapidly in treated animals and declined subsequently to values lower than those found in controls. These data suggest that the rearrangement of regenerated innervation occurs more rapidly in bilobalide-treated animals.
We describe two patients with polyglucosan body disease (PBD) with the clinical features of atypical amyotrophic lateral sclerosis (ALS). Patient 1 was demented, and patient 2, of Ashkenazi background, was incontinent of urine. Autopsy of patient 1 revealed diffuse CNS accumulations of polyglucosan bodies (PB) localized primarily in neuronal and astrocytic processes and rarely in neuronal perikarya. PB were present in peripheral nerve and myocardium. Brancher enzyme analysis of nerve and muscle was normal. Patient 2's sural nerve biopsy showed PB. Brancher activity was markedly reduced in nerve but not in leukocytes. Previous reports have shown reduced leukocyte brancher activity in Ashkenazi patients with PBD. Clinically, pathologically, and biochemically, PBD is heterogeneous and may include patients presenting with ALS. Cases in which typical pathologic features of PBD are combined with findings of rare PB in neural perikarya may represent a pathologic variant of PBD. Brancher enzyme activity may be normal or only mildly reduced in leukocytes in Ashkenazi patients with PBD, implying genetic heterogeneity.
Explore the source record for details and available documents.
Congestive heart failure (CHF) has been traditionally associated with impairment of the left ventricular systolic function (LVSF). There are few clinical assays that describe the prognosis of patients with CHF and intact LVSF. The aims of this prospective assay are: to describe a group of 70 patients admitted to an internal medicine department with the clinical syndrome of CHF, to determine the contractile state of the left ventricle with echocardiography and to establish the short term prognosis. There were 39 males and 31 females with a mean age of 76.4. The LVSF was impaired in 38 (54.3%) [Group I] and preserved in 32 (45.7%) [Group II] (Table 1). Sex distribution was different between both groups with women predominating in group II (Figure 1). Fourteen patients belonging to Group II had diastolic function impairment according to cardiac Doppler. There was no other evidence of cardiac abnormality that could justify CHF. During an average of 8 months follow-up 20 (28%) patients died. There were no differences in overall mortality between Groups I and II (Figure 2). Multivariate analysis was used to determine the relative risk in prognosis of the covariates age, gender, systolic function and diameters of the LV. None of these were statistically significant (Table 2). In our series 45.7% of the patients with CHF had normal LVSF. The short term prognosis proved to be the same in patients with and without impaired LVSF.
Monoclonal antibodies were produced and characterized in order to allow the monitoring of the urinary excretion of six modified nucleosides. The specificity of each antibody was determined and competitive solid-phase enzyme-linked immunoassays were designed, the sensitivity of which lay in the pmol range. Detection and quantitation of 5-methylcytidine (5-MeCyd), 4-acetylcytidine (4-AcCyd), 1-methylinosine (1-MeIno), 1-methyladenosine (1-MeAdo), 7-methylguanosine (7-MeGuo) and pseudouridine (psi-Urd) can be performed in small volumes (70 microliters) of untreated urine. Results can be obtained from as many as 20 different samples, for one molecule, within 3 h. With this technique, values observed for three commonly measured nucleosides in urine from healthy subjects (psi-Urd, 1-MeAdo and 1-MeIno) are in good agreement with those reported by other authors after analysis by high performance liquid chromatography. Results obtained in urine from cancer patients show significantly increased levels of the six haptens quantitated by this immunoassay.
Explore the source record for details and available documents.
During muscle reinnervation, a transitory phase of polyinnervation occurs. In reinnervated muscles of vitamin E deficient rats, sprouting and polyinnervation are increased with respect to reinnervated controls. In this work, polyinnervation was observed in reinnervated extensor digitorum longus (edl) muscle of rats treated with pharmacological doses of vitamin E. Sciatic nerve was crushed and edl muscle was examined electrophysiologically at 30, 40 and 60 days after denervation. The percentage of polyinnervated cells in controls peaked at 30 days and thus it decreased. In muscles of vitamin E treated rats, the time course of percentage of polyinnervated muscle cells was qualitatively the same, but it was decreased at all times.
A seroprevalence study was carried out on 1757 outpatients consecutively seen in a sexually transmitted disease (STD) clinic in order to evaluate the sexual transmission of hepatitis C virus (HCV). A total of 1442 consenting patients were tested for hepatitis C, hepatitis B and human immunodeficiency virus type 1 (HCV, HBV, HIV-1) antibodies. The relations between anti-HCV, anti-HBc and anti-HIV-1 were studied. Of 73 anti-HCV positive reactions, 45 (61.6%) were confirmed by the recombinant immunoblot assay (RIBA). The proportion of individuals with anti-HCV was higher in outpatients with a history of sexually transmitted disease than without. It was 2.8% in non drug user heterosexuals and 2.9% in non drug user homosexuals. Intravenous drug users (IDU) had higher anti-HCV prevalence when a history of STD was taken into account (42.3% in subjects with STD versus 36.7% in subjects without STD). Among non drug user heterosexuals an association was found between anti-HCV and anti-HBc. These data suggest that sexual transmission of HCV occurs, although it seems to be less efficient than other parenteral modes of transmission. When a more sensitive and specific marker of HCV infection become available, a more accurate estimate of the frequency and efficiency of the sexual transmission will be possible.
This paper describes a conceptual decision analysis model for use in multidisciplinary decision making. Decision analysis was used to structure a decision process that ensured the best choice through consensus building among hospital decision makers. The four basic steps of the decision analysis model included: (1) identifying and establishing boundaries of the decision problem; (2) structuring the decision problem; (3) characterizing information needed to fill in the structure; and (4) choosing a preferred course of action. The selection of the best intermittent intravenous drug delivery system for Presbyterian Hospital illustrates the application of the conceptual model. This type of decision analysis model becomes a useful consensus building and communication device for the administrative pharmacist who is involved in multidisciplinary decision-making processes.
Miniature endplate potentials (MEPPs) are regarded as the expression of release of a single quantum of acetylcholine by motor nerve endings in the muscle. Mepp frequency is dependent on the presynaptic mechanism, but MEPP amplitudes and time courses are the result of the characteristics of pre- and postsynaptic structures and of the interaction between them. After post-traumatic reinnervation of skeletal muscles, MEPP frequency increases, reaching slowly normal values. Two groups of male, Sprague Dawley rats were used: in the first group left sciatic nerve was crushed and nerve fibres were allowed to regenerate, whereas the others were regarded as controls. MEPPs were intracellularly recorded in end plates of normal and reinnervated left extensor digitorum longus muscle. MEPPs were sampled and recorded on a personal computer, and, subsequently, amplitude, rise time and half decay time were computed. At early stage after reinnervation, MEPPs showed rise times and decay times longer than normal. Afterwards, we did not find differences between mepp time courses by normal and reinnervated end plates. The possible relationships between the results and changes in acetylcholine receptor number and type, and in acetylcholinesterase activity occurring during denervation and reinnervation are discussed.