Biomedical subjects
A Nuutila
Publications and source records attributed to A Nuutila.
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome.
We describe a four-generation family with a maternally inherited mitochondrial disorder. The symptoms were restricted to the CNS and muscle, the most common features being subacute necrotizing encephalomyopathy, cognitive impairment, ataxia, retinitis pigmentosa, infantile spasms, and optic atrophy. A point mutation at the nucleotide 8993 of the gene encoding subunit 6 of the ATP synthase, associated with the neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP) syndrome, was shown to be inherited maternally in this family, and a clear correlation was found between the clinical severity of the disease and the proportion of mutant mtDNA. Analysis of oxidative phosphorylation in mitochondria carrying 80% mutant mitochondrial DNA showed a reduction of the ATP generation rate coupled to substrate oxidation.
[Narcolepsy--an unusual cause of abnormal sleepiness in children].
Explore the source record for details and available documents.
[Post-traumatic stress disorder or maladjustment to stress?].
Explore the source record for details and available documents.
Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature.
Explore the source record for details and available documents.
The spectrum of Jansky-Bielschowsky disease.
A series of five patients with a variant type of Jansky-Bielschowsky disease is presented. The disease initiated between four and a half and seven years with mental and slight motor symptoms. The additional neurological symptoms and signs, i.e. visual failure, retinal degeneration, ataxia, myclonia and epilepsy developed in all children before the age of ten years. The present series differs from our previous series of 16 cases especially in regard of neurophysiological findings (photic spikes, high visual evoked potential, VEP and high somatosensory evoked potential, SEP). VEP became abnormally high between 8.0 and 9.5 years instead of being an early finding as in the previous series. Photic spikes appeared also later in the present series. Electromicroscopic investigation revealed cytosomes with fingerprint profiles (FP) in the autonomic ganglion cells and cytosomes with both FP and curvilinear (CP) profiles in many extraneural cells including smooth muscle, Schwann cells, capillary endothelium and macrophages. In the light of our 21 Finnish patients and the literature, the spectrum of Jansky-Bielschowsky disease seems to be much wider than previously assumed. The diagnosis should be based on clinical, ophthalmological, neurophysiological and ultrastructural findings. Repeated neurophysiological studies may be necessary.
Neurologic sequelae following interferon therapy of juvenile laryngeal papilloma.
Human leukocyte interferon at doses from 2 million units every two days to 3 million units daily was given to a 2-year-old boy for the treatment of recurrent juvenile laryngeal papilloma. After 7 months of treatment the child developed spastic diplegia, which persisted despite the discontinuation of interferon therapy. The clinical picture was consistent with an upper motor neuron lesion; no evidence of peripheral neuropathy was found.
Cerebrospinal fluid monoamine metabolite levels in male arsonists.
Cerebrospinal fluid (CSF) monoamine metabolite levels were studied in 20 arsonists, 20 habitually violent offenders, and ten healthy inpatient volunteers. The arsonists and violent offenders had been in prison an average of six months before the study. Both the raw data and data adjusted by analysis of covariance for group differences in age, height, sex, and season of the lumbar puncture showed significantly lower concentrations of 3-methoxy-4-hydroxyphenylglycol (MHPG) and 5-hydroxyindoleacetic acid (5-HIAA) in the arsonists than in the other groups. The finding remained the same when arsonists with violent suicide attempts were excluded from the analysis. Although CSF concentrations of MHPG or 5-HIAA did not correlate with the severity of repeated fire-setting behavior, low blood glucose nadir in the oral glucose tolerance test (a measure of the tendency toward hypoglycemia) did. These results support the hypothesis that poor impulse control in criminal offenders is associated with low levels of certain CSF monoamine metabolites and with a hypoglycemic tendency.
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.
We describe the inherited folate sensitive fragile site, fra(2)(q13), in three unrelated mentally retarded children, two of them with different forms of epilepsy. Fra(2)(q13) was detected in one healthy sib of one of the probands. Except for one cell in one of the fathers, fra(2)(q13) could not be detected in any of the six parents, who were repeatedly studied using methods known to induce fragile sites of this type. These findings suggest that fra(2)(q13) is not associated with the clinical features of our patients and can be transmitted by persons not expressing it. The expression of fra(2)(q13) may be age dependent.
Benzodiazepines, but not antidepressants or neuroleptics, induce dose-dependent development of tolerance to lorazepam in psychiatric patients.
Psychomotor effects of oral lorazepam 3 mg were studied in psychiatric patients stratified into four groups: 1) a group of six patients with no previous use of psychotrophic drugs (NoD), 2) a group of 12 patients treated with antidepressants and/or neuroleptics (PsyD), 3) a group of 10 patients treated with low doses of benzodiazepines (BZs) (lowBZ), and 4) a group of nine patients treated with high doses of BZs (high BZ). Similar objective psychomotor tests and subjective assessments were administered under single-blind conditions to all treatment groups at baseline, after intake of placebo, and after intake of 3 mg lorazepam. Both lorazepam (CGC) and total BZs (bioassay) in serum were assayed. The results demonstrate that treatment with BZs induce dose-dependent development of tolerance to psychomotor effects of lorazepam. Antidepressants and neuroleptics failed to induce cross-tolerance to lorazepam. The rise in serum lorazepam concentrations after lorazepam intake was similar (about 28 micrograms/l) in all treatment groups, suggesting a functional, not dispositional, tolerance. However, the initial learning effect in psychomotor performance was poorer among BZ users than among others.
Psychosis-like absence status of elderly patients: successful treatment with sodium valproate.
Absence status and psychosis-like behaviour and continuous spike-and-wave EEG activity in two elderly women is reported. Once the correct diagnosis was made, the patients were successfully treated with sodium valproate. Differential diagnosis between absence status and psychotic syndromes is emphasised.
Low cerebrospinal fluid 5-hydroxyindoleacetic acid concentration differentiates impulsive from nonimpulsive violent behavior.
Relationships of impulsive and nonimpulsive violent behavior to cerebrospinal fluid (CSF) monoamines and their metabolic concentrations were studied in thirty-six violent offenders. A relatively low 5-hydroxyindoleacetic acid (5HIAA) concentration was found in the CSF of impulsive violent offenders. This was not true for the offenders who had premeditated their acts. Other CSF monoamine or metabolite concentrations were not significantly different between the two groups. Of the groups studied, impulsive violent offenders who had attempted suicide had the lowest 5HIAA levels. A low CSF 5HIAA concentration may be a marker of impulsivity rather than violence.
Dantrolene sodium in chronic spasticity of varying etiology. A double-blind study.
Seventeen patients, 13 males and 4 females, with moderate to severe spasticity caused by varying neurological disorders attended a double-blind, placebo-controlled trial to determine the efficacy and safety of dantrolene sodium. Three patients discontinued, two because of side effects and one because of a laboratory abnormality. In the fourteen subjects who completed the trial there was a statistically significant decrease in resistance to passive stretch, clonus and hyperreflexia without significant reduction of muscle strength. A positive clinical effect was observed in ten patients while a very slight or no effect was seen in four cases. All patients reported adverse reactions during the dantrolene period, six patients during the placebo treatment. Six patients wanted to go on with dantrolene after the trial. On many occasions the urine of the patients turned bright yellow with high doses of dantrolene. It is concluded that dantrolene sodium is an effective antispastic drug in about one-third of patients who suffer from spasticity of varying etiology.
Auditory perception of speech and speech sounds in recent and recovered cases of aphasia.
Explore the source record for details and available documents.
Brain injury and criminality. A retrospective study.
This follow-up study elucidates the incidence of criminality among brain injured persons. All the 1930 Finnish veterans who survived a penetrating brain injury during World War II were included in the study. The follow-up covered a period of 32-37 years. Five hundred randomly selected non-injured veterans of the same war were used as controls. A comparison of the frequency of convictions for crimes punishable by imprisonment among the injured and non-injured groups revealed no statistically significant difference between the two groups. This result shows, in accord with several reports on this subject published in the last two decades, that criminal behavior is not a sequela of injury to the brain.
Effect of brain injury on social adaptability. Longitudinal study on frequency of criminality.
The study tried to clarify social adaptability of persons with brain injuries by using a long-term criminal development as a criterion. Randomly chosen 507 subjects whose open injury originated from the Second World War were followed up for about 30 years. The criminal acts commited by 29 (5.7%) of these subjects were so severe that they led to imprisonment. Criminality was not found in the subjects with fronto-temporal injuries more often than in those with injuries to the other areas. Subjects with injuries to the dominant hemisphere appeared to have more criminality than subjects with injuries to the non-dominant hemisphere. The criminal acts were often very accidental and had happened only after several decades following the head injury.
Specific reading retardation, hyperactive child syndrome, and juvenile delinquency.
The purpose of the study was to ascertain the extent to which a specific reading retardation leads to criminal development in adolescent and to what factors such development is due in these cases. For this purpose, 224 adolescents with a specific reading retardation were investigated. A relatively large number of these (12.1%) were prone to criminality between the ages of 15 and 20 years, whereas the severity of the specific reading retardation did not seem to contribute to this propensity. Symptoms of hyperactivity, on the other hand, seemed to contribute to criminal behaviour.
Disturbances of higher nervous activity in hemiplegia.
Explore the source record for details and available documents.