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Biomedical subjects

K Wisniewski

Publications and source records attributed to K Wisniewski.

At least 55 records · Page 3Linked to original sources
PubMed1982

Reduction of neuronal specific protein and some neurotransmitters in the infantile neuroaxonal dystrophy (INAD).

INAD with classical clinicopathological features was seen in three children of one family. They presented with a history of regression after the age of 1.5 years and died in mental institutions at the ages of 6, 7 and 9. Two of them had postmortem neuropathological studies, one had brain biopsy and one biochemical study. The following observations have been made; I. Histological--(1) some axonal loss with almost total absence of neurofilaments in dystrophic neurites and (2) marked degenerative changes and loss of synaptic vesicles; II. Biochemical--(1) the decrease of the neurofilament polypeptides by up to 75% and (2) a reduction of some neurotransmitter enzymes. The presence of intermitochondrial septate junctions. The neurofilament protein is specific to neurons and makes up a large percentage of their protein content. Neurofilaments have been implicated in several cellular functions such as intracellular transport and in the maintenance of cell structure. The decrease of neurofilament protein in our case is compatible with our morphological findings where we found decreased numbers of axons and an almost total absence of neurofilaments in the affected neurites.

Axons↗
PubMed1982

Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy.

Familial occurrence of cerebral malformations with muscular dystrophy was described by Fukuyama as congenital cerebromuscular dystrophy. We have observed a new syndrome belonging to the same group in three siblings. These syndromes differ in the degree of CNS involvement and abnormalities in the eye. The main clinical characteristics of our cohort were dysmorphic face, hypotonia, areflexia, failure to thrive, corneal opacity, cataract, dysgenesis of the anterior chamber of the eye, and death within the 1st year of life. Hydrocephalus and agyria were verified by computed tomography. Neuropathologic examination demonstrated malformations of the CNS. The agyric hemispheres with polymicrogyria in several cortical segments and severe cortical disorganization in other segments represented the principal anomaly. Congenital muscular dystrophy was also found. The CNS anomalies demonstrated a long-lasting pathologic process extending to involve the eye and muscle, which is most likely an inborn error of metabolism with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1981

Neurological disease in a child with carnosinase deficiency.

Carnosinase deficiency presented as a progressive neurological problem with sensory polyneuropathy in a 12-year-old male. Carnosinuria was present, even on a meat-free diet, although carnosinemia was not observed. An increased amount of unmetabolized carnosine was found in the urine after a carnosine load. Serum and tissue (liver and nerve) from the patient showed deficient carnosinase activity (Fleisher et al. 1978, 1980). Morphometric and fine structural studies on the nerve and skin biopsies are presented, as is a review of the literature on carnosinase deficiency in mentally retarded patients.

Carnosine↗
PubMed1980

Diagnosis of infantile neuroaxonal dystrophy by skin biopsy.

Skin biopsy with ultrastructural examination of cutaneous nerves showed dystrophic axons (spheroids), confirming a diagnosis of infantile neuroaxonal dystrophy. Independent of axonal changes, a few endoneurial and Schwann cells showed cytoplasmic inclusion bodies composed of structures similar to those seen in the spheroids.

Axons↗
PubMed1980

Intermitochondrial septate structures in dystrophic axons.

Intermitochondrial septate structures were found in the dystrophic axons of two cases of infantile neuroaxonal dystrophy. Septate structures were previously seen in some tumors (glioblastomas and Schwannomas) and several organs of vertebrates and invertebrates, but never in human central nervous system (CNS). The structures were studied by transmission and transmission tilt electron microscopy. A proposed model was constructed and X-rayed. Artist's depictions are shown and described. The intermitochondrial septate structures have a periodicity of 120 A which puts them within the range of those structures previously reported. It was found that our structures are not true junctions, but a complex interdigitation of the outer membranes of the involved mitochondria.

Axons↗
PubMed1980

Biological effects of degradation products of collagen by bacterial collagenase.

1 Collagen degradation products (CDP) resulting from bacterial collagenase digestion were fractionated by gel filtration and their biological activities in rats were estimated. 2 CDP induced the following kinin-like effects: increase in permeability of skin blood vessels, contraction of the isolated intestine of the rat, depression of locomotor activity and of motor coordination. 3 The most active CDP fraction was CDP III containing peptides of mol. wt. < 1000 D with a high percentage of hydroxyproline. 4 As compared with bradykinin, CDP III was less active in the skin permeability test and was 15,000 to 20,000 fold less effective in induction of isolated intestine contraction. 5 Depression of the CNS induced by 30 microgram of CDP III administered into the brain ventricle was similar to that observed after 4 microgram of bradykinin given by the same route. 6 CDP III prolonged the duration of sleep evoked by thiopentone and enhanced the threshold of convulsion induced by pentazol. 7 The activity of CDP in comparison to other low molecular weight peptides is discussed.

Animals↗
PubMed1980

Carnosinase deficiency: a new variant with high residual activity.

Plasma carnosinase deficiency was discovered in a 12-yr-old male with profound mental retardation, severe athetoid spastic quadriparesis, optic atrophy, sensory peripheral neuropathy, and suprabulbar signs. Amino acid analysis revealed persistent carnosinuria but no detectable carnosinemia. After ingestion of L-carnosine (100 mg/kg), the patient had carnosine in his plasma and excreted 28% of the administered load as carnosine (an agematched control excreted 1.3% as carnosine). Urinary 1-methylhistidine was measurable in the patient and increased greatly during a high anserine diet. Plasma carnosinase activity in the patient was 0.28 mumoles per ml plasma per hr (control mean, 2.00; range, 1.10--2.85), his parents had activity of 1.36 and 1.30, and 2 sibs had activities of 1.10 and 1.86. Carnosinase activity in liver from the patient was 43% of control liver. We have demonstrated that carnosinase activity is present in human nerve and that sural nerve from the patient had activity that was 46% of control nerve. Histopathologic examination of the patient's nerve showed axonal degeneration. Histidine levels in the patient's liver and nerve were normal, and neither beta-alanine nor carnosine was detectable. The unusually high residual carnosinase activity in plasma and tissues from this patient may explain his apparent ability to metabolize anserine and would suggest that this represents a new variant form of carnosinase deficiency. Speculation. Carnosinuria due to plasma carnosinase deficiency may be merely associated with the strinking neurologic findings that have been reported rather than causally related.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

Alzheimer neurofibrillary tangles in diseases other than senile and presenile dementia.

A brief description is given of neurofibrillary changes of the paired helical filament type in a variety of chronic neurological diseases. These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis. In these conditions, with the exception of Hallervorden-Spatz disease neurofibrillary changes were previously recognized but paired helical filaments were identified only in some cases. Moreover, in the present series, the age of patients at death was often younger than in previously recorded cases.

Adolescent↗
PubMed1979

T lymphocytes in patients with Down's syndrome.

Individuals with Down's syndrome (DS) are thought to have abnormalities in their immune system, and a tendency to infection and malignancy. Studies to quantify the number of T lymphocytes in the peripheral blood of 82 unselected institutionalized patients (50 DS, 27 controls matched for sex and age, 2 chronic lymphocytic leukemic, 2 acute leukemic, and 1 Hodgkin's disease) were conducted. The numbers of circulating T cells in DS patients did not differ significantly from the control group, and were in the upper limits of normality. Number of "avid" T cells, however, were significantly higher in the DS than in the control group. The blastogenic response of the T cells to mitogen was significantly depressed. The data did not exclude the existence of qualitative abnormalities. Except for DS patients with congenital heart disease, those older than 15 years were not more prone to upper respiratory infections than other institutionalized mentally retarded patients.

Adolescent↗
PubMed1978

Precocious aging and dementia in patients with Down's syndrome.

Fifty unselected institutionalized patients with Down's syndrome were studied to determine the clinical course of precocious aging and mental and neurological deterioration. In our studies we establish statistically significant differences in neurological and psychiatric abnormalities and mental deterioration in patients below and above age 35, indicating progressive changes in the central nervous system. We demonstrate higher incidence of recent memory loss, impairment of short-term visual retention, frontal release signs, hypertonia, hyperreflexia, long-tract signs, and psychiatric problems. We also note the presence of external features of precocious aging. Down's syndrome appears to be a human chromosomal abnormality in which genetically determined biochemical defects leading to precocious aging and dementia can be studied.

Adolescent↗
PubMed1977

The effect of prostaglandin E1 on central cholinergic mechanisms.

The influence of PGE1 and its precursor dihomo-gamma-linolenic acid on the central action of acetylcholine was studied. PGE, and dikomo-gamma-linolenic acid increased the depressive action of acetylcholine as evaluated with Lat's and thiopental sleeping time tests. PGE1 and its precursor diminished or eliminated the influence of acetylcholine on pentetrazol convulsions. Endogenous acetylcholine in excess inhibited hyperthermic effect of PGE1. The results show that PGE1 and its precursor may change the action of acetylcholine in the central nervous system.

Acetylcholine↗
PubMed1976

Investigations of the mechanism of central action of kinins.

The effects of kinins on the level of norepinephrine, dopamine, and serotonin and on their metabolites, i.e., normetanephrine, homovanillic acid, and 5-hydroxyindoloacetic acid in the brain tissue divided into cerebellum, corpus striatum, cortex, hippocampus, hypothalamus, medulla oblongata, and midbrain were investigated. It was shown that bradykinin in a dose of 4 mug decreased the content of norepinephrine in corpus striatum, midbrain, and cerebellum. It also decreased the level of dopamine in corpus striatum but increased the level of serotonin in corpus striatum and midbrain. Similar changes were observed with 100 Mu/kg of kallikrein. It was that changed levels of investigated neuromediators are accompanied by changed levels of their metabolites. Bradykinin, in a dose of 4 mug, decreased the level of normetanephrine in corpus striatum, hippocampus, and midbrain and the level of homovanillic acid in corpus striatum, and increased the level of 5-hydroxyindoloacetic acid in corpus striatum and hippocampus. It was also shown that bradykinin increased norepinephrine uptake by the blood platelets when its level in the platelets was low, and released the absorbed norepinephrine into the medium when the level of norepinephrine was higher. The above results confirm the existence of an interaction of kinins with neuromediators in the central nervous system.

Animals↗