ABSTRACT
BACKGROUND: The purpose of the study was to investigate the diagnostic yield and clinical utility of open muscle biopsy and to identify pre-biopsy factors that might predict useful clinical results for suspected myopathy. METHODS: Two-hundred fifty-eight muscle biopsies, performed for investigation of suspected myopathy, were evaluated. RESULTS: A specific clinical diagnosis following muscle biopsy was made in 43% of cases. As a result of the biopsy, clinical diagnosis was changed in 47% and treatment was changed in 33% of cases. Results either led to a specific clinical diagnosis or changed the diagnosis/treatment in 74% of patients. Positive family history of myopathy and findings of myopathic irritability on electromyography had a negative predictive value for diagnosis change. CONCLUSIONS: Open muscle biopsy is useful in myopathy evaluation in the modern genetic era.
Subject(s)
Muscle, Skeletal/pathology , Muscular Diseases/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy/methods , Biopsy/standards , Child , Child, Preschool , Creatine Kinase/analysis , Creatine Kinase/blood , Diagnosis, Differential , Electromyography , Female , Genetic Predisposition to Disease , Humans , Infant , Infant, Newborn , Male , Middle Aged , Muscle Weakness/diagnosis , Muscle Weakness/etiology , Muscle Weakness/pathology , Muscle, Skeletal/physiopathology , Muscular Diseases/physiopathology , Predictive Value of Tests , Retrospective Studies , Sensitivity and Specificity , Young AdultABSTRACT
Transcranial magnetic stimulation (TMS) and a behavioral paradigm were used to assess whether listening to action-related sentences modulates the activity of the motor system. By means of single-pulse TMS, either the hand or the foot/leg motor area in the left hemisphere was stimulated in distinct experimental sessions, while participants were listening to sentences expressing hand and foot actions. Listening to abstract content sentences served as a control. Motor evoked potentials (MEPs) were recorded from hand and foot muscles. Results showed that MEPs recorded from hand muscles were specifically modulated by listening to hand-action-related sentences, as were MEPs recorded from foot muscles by listening to foot-action-related sentences. This modulation consisted of an amplitude decrease of the recorded MEPs. In the behavioral task, participants had to respond with the hand or the foot while listening to actions expressing hand and foot actions, as compared to abstract sentences. Coherently with the results obtained with TMS, when the response was given with the hand, reaction times were slower during listening to hand-action-related sentences, while when the response was given with the foot, reaction times were slower during listening to foot-action-related sentences. The present data show that processing verbally presented actions activates different sectors of the motor system, depending on the effector used in the listened-to action.
Subject(s)
Auditory Perception/physiology , Behavior/physiology , Electromagnetic Fields , Motor Neurons/physiology , Adult , Evoked Potentials, Motor/physiology , Female , Foot/innervation , Foot/physiology , Hand/innervation , Hand/physiology , Humans , Language , Male , Motor Cortex/physiology , Muscle, Skeletal/innervation , Muscle, Skeletal/physiology , Psychomotor Performance/physiology , Reaction Time/physiologyABSTRACT
Triphasic waves (TWs) can be recorded on EEG in the course of several metabolic disorders, mainly hepatic encephalopathy. A case of acute encephalopathy due to naproxen intoxication is reported, in the course of which diffuse, bilateral and symmetrical TWs were recorded. Biochemical mechanisms that might determine both a complex encephalopathy and TWs are discussed.
Subject(s)
Acidosis, Lactic/chemically induced , Anti-Inflammatory Agents, Non-Steroidal/poisoning , Brain Diseases, Metabolic/chemically induced , Drug Overdose/diagnosis , Electroencephalography/drug effects , Naproxen/poisoning , Acidosis, Lactic/diagnosis , Acidosis, Lactic/physiopathology , Adult , Ammonia/blood , Brain Diseases, Metabolic/diagnosis , Brain Diseases, Metabolic/physiopathology , Cerebral Cortex/drug effects , Cerebral Cortex/physiopathology , Drug Overdose/physiopathology , Evoked Potentials/drug effects , Humans , Male , Suicide, AttemptedABSTRACT
On the possible ontogeny of the cells of a "granular cell tumor" of the human trachea. In a young patient affected with pulmonary tuberculosis during bronchoscopy a "granular cell tumor" of the membranous part of trachea was occasionally evidentied. After pathologic examination, the specimen is analyzed in order to assess the kind of cells that are present in the lesion: the ultrastructural and immunohistochemical study shows Schwann cells which particularly well developed lysosomal complement.
Subject(s)
Granular Cell Tumor/pathology , Tracheal Neoplasms/pathology , Adult , Humans , MaleABSTRACT
A new framework for pulmonary fibroses may be obtained by distinguishing the "true" forms (solely collagen hyperplasia) from the "false" forms or mesenchymal fibril lung diseases (collagen, reticular and elastic hyperplasia with neo-angiogenesis): the "true fibroses" are then divisible into those not causing architectural subversion of the lung and those which bring it about. Pulmonary architectural subversion is common to true granulomatous fibroses and mesenchymal fibril lung diseases: it is, in our opinion, the product of a combination of factors, including the hyperactivity of a fibroblast sub-population normally in the minority, stimulated by T lymphocytes which are activated by an autoimmune response to type I collagen produced in excess.
