Electrophysiologic evaluation of Emery-Dreifuss muscular dystrophy. A single fiber and quantitative EMG study

A 16-year-old boy, the only affected member of the family, noticed early onset contracture of the elbows, and developed slowly progressive humeroperoneal weakness and atrophy, and bilateral equinus. The severe restriction of the forward flexion of the neck and thoracolumbar spine, resembled a rigid spine syndrome. An electrocardiogram showed atrioventricular conduction abnormalities. Muscle biopsy was consistent with mild myopathy. The overall conventional findings of a detailed electromyographic study in the limbs and erector trunci muscles, as well as the results of conduction velocity, automatic analysis of the voluntary pattern and single fiber electromyography studies were consistent with myopathy, although some atypical findings were found. The controversy about neurogenic and myopathic features in Emery-Dreifuss disease is discussed. The unspecific value of the flexion limitation of the spine, and the uncertain nosological position of the rigid spine syndrome are also commented.     

Dynorphin-containing pilomotor neurons in the superior cervical ganglion of guinea pigs

Retrograde axonal tracing and double-labelling immunofluorescence have been combined to determine the neuropeptide content of identified pilomotor neurons in the superior cervical ganglion of guinea pigs. These neurons lacked immunoreactivity to neuropeptide Y (NPY) but they generally contained low levels of immunoreactivity to prodynorphin-derived peptides, including dynorphin A(1-8), dynorphin A(1-17), and alpha-neo-endorphin. Thus pilomotor neurons are neurochemically distinct from superior cervical ganglion cells which contain immunoreactivity to NPY and prodynorphin-derived peptides and which innervate the iris and most of the vasculature in the head of guinea pigs. They are also distinct from sympathetic secretomotor neurons which lack both NPY and prodynorphin-derived peptides.     

Effect of extracellular fluid volume contraction and expansion on plasma atrial natriuretic peptide (ANP) concentration in patients with acromegaly

Atrial natriuretic peptide (ANP) is a hormone release into the circulation by atrial cardiocytes (Gutkowska et al. 1984). Extracellular fluid volume expansion acts as a powerful stimulus for ANP secretion and results in the augmentation of its plasma concentration (Lang et al. 1985). Patients with active acromegaly demonstrate the increased extracellular fluid volume (Falkheden et al. 1964), while a successful treatment of the disease results in the disappearance of hypervolemia (Strauch et al. 1977). We have recently demonstrated that in patients with active acromegaly the increased total body plasma volumes are accompanied by the elevated plasma ANP concentrations, whereas, in the successfully treated patients, both: total plasma volumes and plasma ANP levels do not differ significantly from these in healthy subjects (Czekalski et al. 1988b).     

Behavioral neurology of multi-infarct dementia

Multi-infarct dementia (MID) is a heterogeneous entity in which a variety of cerebrovascular disorders leads to intellectual impairment. A variety of patterns of behavioral changes may be observed in MID, depression, psychosis, and personality change are common. The neurobehavioral syndromes of MID are determined by the specific arteries involved and the location and extent of tissue infarction.     

Benzodiazepines: abuse and new use.

Both abuse and new uses for benzodiazepines are reviewed. The pharmacology of benzodiazepines is summarized and statistics regarding their general use are given. The question of benzodiazepine abuse is reviewed in some detail and the question of rebound, recurrence of symptoms and physiological withdrawal is differentiated. Benzodiazepines are regarded as a very safe class of drugs and the abuse potential is felt to be negligible provided that they are prescribed for appropriate conditions and monitored carefully. The dangers of alternatives to benzodiazepines such as alcohol or barbiturates is emphasized. New uses for benzodiazepines are reviewed including the use of benzodiazepines in panic disorder, as well as an adjunct in the therapy of mania and some psychotic states. Rational prescribing of benzodiazepines is encouraged and the attitude that these are dangerous and addictive drugs is discouraged and put into perspective.     

Isolation and characterization of a distinct immunoregulatory isoform of alpha-fetoprotein produced by the normal fetus

In this report, we examine the functional significance of the molecular microheterogeneity of alpha-fetoprotein (AFP). In doing so, we have taken the direct approach of purifying the naturally occurring isomeric forms of fetal-derived AFP using a preparative anion exchange column linked to an automated fast protein liquid chromatography (FPLC) system followed by parallel testing of each isolated molecular variant for in vitro immunoregulatory activity. The data obtained demonstrate the presence of seven distinct variants of AFP as defined by their retention volumes on FPLC elution profiles, by their pIs on analytical IEF gels, and by Western blot analysis. Molecular mass determination by SDS-PAGE showed each isomer to be equivalent in size to 69,000-dalton native unfractionated AFP molecules. All the immunosuppressive activity of AFP was localized to a single variant representing only 6% of the total composition of native AFP. The immunoregulating isomer termed AFP-1 was the least acidic of the seven isolated variants with a pI of 5.1 and displayed a sialic acid content of 1 mol/mol of protein. The inhibitory activity of AFP-1 could be readily measured on T cell-dependent antibody synthesis, Con A-induced stimulation of Lyt-1+23- thymocyte DNA synthesis, and lymphokine-activated NK cell activity. All other isomers were without effect in these test systems. The immunosuppressive AFP-1 isomer also displayed the strongest growth-promoting influence on cultured bone marrow lymphocytes. There was no correlation between functional activity and degree of expression of sialic acid residues on the AFP molecules. These findings demonstrate that the immunoregulating function of AFP is confined to a distinct and relatively small subpopulation of native AFP molecules and should therefore contribute to the resolution of outstanding questions regarding the structure/function relationship of this onco-fetal glycoprotein.     

The method of teaching therapy--the problem approach to diagnosis

The methodology of a so-called task force approach to the diagnosis is suggested. It determines the strategy of the physician's diagnostic searches in some problems occurring in the examination of patients afflicted with the given disease. The problems (stages, levels of examination) show how one should reason, i. e. they form concrete bases for clinical thinking. According to this methodology, the symptoms should be classified with separate diagnostic problems--trends or stages of the patient's examination at the stage of a probable diagnosis establishment. The task force approach is a method of analysis which prevents potential gross diagnostic errors by means of deciding the main questions (functional, pathogenetic, etc.). A well-defined wording of the above-indicated problems--concrete regularities of the clinical thinking--are of paramount importance in teaching therapy. Examples are provided of the task force approach to the diagnosis of pyelonephritis, infectious myocarditis, anemia, and some other diseases.