Search PubMed⌕ Search

Biomedical subjects

J Palo

Publications and source records attributed to J Palo.

At least 109 records · Page 6Linked to original sources

Dolichols in brain and urinary sediment in neuronal ceroid lipofuscinosis.

Long-chain polyisoprenoid alcohols (dolichols) increase more than tenfold from age 5 to 80 years in human cerebral cortex. The dolichol content of brain from infantile, late infantile, and juvenile forms of neuronal ceroid lipofuscinosis (NCL) was significantly higher than in age-matched patients with other neurologic diseases. Significant increase of dolichols was also found in the urinary sediment in all three types of NCL patients, and this test is useful in making the diagnosis. Dolichol accumulation is the first biochemical marker of NCL and seems to parallel storage of ceroid lipofuscin.

Adolescent↗

Classic amyotrophic lateral sclerosis with dementia.

Documented cases of classic amyotrophic lateral sclerosis (ALS) combined with severe dementia are few and come from the isolated populations of the Western Pacific. In this report, three women had a clinically and neuropathologically documented combination of ALS and dementia. In all cases the symptoms and signs of ALS were mainly bulbar. In two of them dementia appeared first, followed by ALS. At autopsy, there was a marked discrepancy between the severe degree of dementia of Alzheimer's type and the sight nonspecific neuropathologic findings without Alzheimer's changes. Our cases bear a close resemblance to recently published Japanese cases. It may be concluded that the combination of sporadic ALS and progressive dementia seems to be a clinical entity without consistent neuropathologic changes and that it also occurs in the western countries.

Aged↗

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.

Adolescent↗

Pregnancy-specific beta 1-glycoprotein-like material in human cerebrospinal fluid.

Human cerebrospinal fluid (CSF) from 34 unselected neurological patients was studied for pregnancy-specific beta 1-glycoprotein (SP1) activity because of the recent finding of SP1 production by cultured glial cells. An organic central nervous system lesion was diagnosed in 9 patients, but not in the other 25. Low levels of SP1 immunoreactivity were found in CSF by RIA, and the adsorption of anti-SP1 antiserum with concentrated CSF abolished the positive immunohistochemical staining of placental tissue obtained with the unadsorbed antiserum. By means of immunoadsorption using monoclonal anti-SP1 antibodies, it was possible to isolate SP1 immunoreactive material from CSF and to demonstrate that it had the same electrophoretic mobility in sodium dodecyl sulfate-polyacrylamide gel electrophoresis as purified placental SP1. These results show that CSF contains SP1-like material that is closely related, if not identical, to placental SP1. The amount of SP1 in CSF has no direct correlation to an organic central nervous system lesion or to abnormality of the CSF.

Adenocarcinoma↗

Infantile neuronal ceroid lipofuscinosis: isolation of storage material.

We used ultracentrifugation to isolate autofluorescent storage particles from the brains of patients with infantile type of neuronal ceroid lipofuscinosis (Haltia-Santavuori). The particles differed from those of the late infantile (Jansky-Bielschowsky) and juvenile (Batten-Spielmeyer-Sjögren) types and retained the characteristic appearance--large, partly membrane-bound conglomerates of spherical globules with a uniform finely granular internal structure--despite the vigorous procedure. The sedimentation properties of the particles also differed from the two other forms, but dolichols are found in the particles of all three diseases.

Brain↗

Regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria.

We have studied the regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria, a condition characterized by inherited deficiency of lysosomal N-aspartyl-beta-N-acetylglucosamine amidohydrolase. Gaschromatographic measurements of the main accumulating glycoprotein-derived metabolite, N-acetylglucosaminyl-asparagine (GlcNAc-Asn), in 12 defined cerebral areas showed that GlcNAc-Asn is rather evenly distributed in the brain. The mean concentrations ranged from 0.454 mg/g wet tissue (corpus callosum) to 0.0610 mg/g (pons). The GlcNAc-Asn concentrations tended to be higher in grey matter areas than in white matter areas. GlcNAc-Asn was identified in the isolated neuronal fraction, but not in the myelin fraction, by mass-fragmentographic techniques. Electron-microscopic reexamination of a brain biopsy specimen revealed, in addition to the abundant presence of storage lysosomes in the neuronal perikarya, numerous cytoplasmic inclusions in brain capillary endothelial cells and pericytes as well as in occasional macrophages. The results indicate that the glycoasparagine storage material is not limited to expected cortical areas in aspartylglycosaminuria, but is distributed in a rather constant fashion in all cerebral grey and white matter areas studied.

Acetylglucosamine↗

Criteria of brain death and removal of cadaveric organs.

Several countries have formulated and accepted their own criteria for brain death but Finland was the first country in which brain death was legally accepted. The diagnosis is based on careful history taking, clinical examination, and confirmatory investigations when needed. The cause of the brain death must be fully established and there should be no doubt that the patient's condition is due to irreversible structural brain damage. Cerebral unresponsiveness, absence of brainstem reflexes, and absolute apnoea must be confirmed clinically. Confirmatory investigations are mandatory when the diagnosis of brain death remains in doubt. The two most important investigations are electroencephalography (EEG) and aortic arch angiography. The value of the EEG is limited by technical inadequacies and observer errors while angiography appears to be less prone to misinterpretation. The tests should be repeated when necessary, an an observation period may be required. The concept of brain death has developed together with advancing intensive care techniques and their wide availability in civilized nations. In general, the concept of brain death has gained wide support and has had a positive influence on the practice of transplant surgery. The physician in charge of a dying patient, however, should only consider what is best for the patient and his family and give no priority to transplant surgeons and their patients. The ethical aspects of brain death, including the feelings of the donor (donor card), recipient and intensive care staff, should always be kept in mind.

Angiography↗

N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria.

The levels of the main glycoprotein-derived storage compound, N-acetylglucosamine-asparagine, in various post mortem tissues of three adult patients with inherited deficiency of lysosomal 1-aspartamido-beta-N-acetylglucosamine amidohydrolase (aspartylglycosaminuria) were measured by gas-liquid chromatography. All aspartylglycosaminuria tissues studied contained significant amounts of N-acetylglucosamine-asparagine, whereas none of the corresponding control tissues contained detectable amounts of this compound. High levels of N-acetylglucosamine-asparagine were found in the liver (3.65 mg/g wet weight), spleen (2.24) and thyroid (2.18), and lower levels in the kidney (0.89), brain (0.53), spinal cord (0.32), sciatic nerve (0.34) and skeletal muscle (0.16). The results show that N-acetylglucosamine-asparagine accumulates chiefly in tissues with important functions in glycoprotein metabolism and/or high endocytic activity. Correlation of the results to the clinical manifestations of aspartylglycosaminuria did not reveal a direct relationship between the amount of N-acetylglucosamine-asparagine stored and the degree of organ dysfunction.

Acetylglucosamine↗

Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.

We describe nine patients with metachromatic leukodystrophy. Seven patients had the juvenile form; in two others, the age at onset was 1 year, but the clinical course was different from the late infantile form. The age at onset ranged from 1 to 18 years; the duration ranged from three to 17 years. Mental retardation associated with motor impairment and pathological EEG and electromyographic findings were the main clinical findings. In patients with early onset, mental retardation was almost the only symptom for the first ten years. Segmental demyelination, remyelination, onion bulb formation, and occasional perivascular macrophages containing metachromatic lipid were the main findings in sural nerves studied after biopsy. The mean arylsulfatase-A (ASA) activity was 1.3 nmoles of nitrocatechol sulfate per milligram of protein per 30 minutes in peripheral leukocytes of the patients, 62.0 in the heterozygotes, and 139.0 in the controls. The ASA band could not be detected in enzyme electrophoresis.

Adolescent↗

Characterization of the storage material of peripheral lymphocytes in aspartylglycosaminuria.

1. Aspartylglycosaminuria is a neurovisceral storage disease characterized by reduced or absent activity of the lysosomal enzyme N-aspartyl-beta-glucosaminidase. Although vacuolization of peripheral lymphocytes is a well-documented feature of aspartylglucosaminuria, the chemical composition of the lymphocyte storage material is not known. In this paper we describe the results of glycopeptide analyses of peripheral lymphocytes isolated from the blood of a 29-year-old female patient with aspartylglycosaminuria and from a control subject. 2. By use of a highly specific and sensitive gaschromatographic-mass-spectrometric technique, 4-N-2-acetamido-2-deoxy-beta-D-glycopyranosyl-L-asparagine (N-acetylglucosaminylasparagine) was found to accumulate in the patient's lymphocytes, but not in those of the control subject. 3. The amount of this compound stored in the diseased lymphocytes was found to be approximately 2.3 nmol/100 microgram of soluble protein. 4. We suggest that this compound is the main storage substance in the peripheral lymphocytes in aspartylglucosaminuria and that it is probably responsible for the cytoplasmic vacuolization of these cells.

Acetylglucosamine↗

HLA antigens in Alzheimer's disease.

The histocompatibility antigens of the A, B and C loci were typed for 32 patients with Alzheimer's disease and 35 controls of the same age. The results were also compared to the distribution of HLA antigens in a series of 900 healthy blood donors. No statistically significant differences were found between the Alzheimer patients and the controls. HLA--Cw1 was found significantly less frequently in the group comprising the patients with Alzheimer's disease and their controls together, than in the younger blood group. This leads us to suggest that an age-matched control group may be needed, at least when the patients are elderly.

Aged↗

Amyotrophic lateral sclerosis in Finland: birthplaces of patients, parents and grandparents.

Amyotrophic lateral sclerosis (ALS) appears to be more prevalent in the southeastern part of Finland and among the war evacuees displaced from this area after the World War II than elsewhere in the country. A random sample of 31 ALS patients was chosen and the birthplaces of their ancestors traced back in two generations to find out whether there would be any tendency of clustering in certain regions of the country. No such trend was found. This finding speaks against a genetically determined tendency for the disease.

Amyotrophic Lateral Sclerosis↗

Arylsulphatase A and B in juvenile metachromatic leukodystrophy.

A series of five living patients with juvenile metachromatic leukodystrophy (MLD), ten first-degree relatives, and a number of controls were subjected to biochemical investigations including quantitative determination of arylsulphatase A (ASA) and B (ASB) activities in peripheral leukocytes and polyacrylamide disc gel elctrophoresis of arylsulphatases. Five relatives were family members of four previously deceased patients with juvenile MLD. The mean ASA activity of the patients was 1.3 nmol of p-nitrocatechol sulphate hydrolysed in 30 min per mg protein. It was 84 nmol in the relatives, 129 nmol in other neurological patients and 136 nmol in normal controls. The corresponding ASB activity was 38 nmol in the patients, 49 nmol in the relatives, and 99 nmol in normal controls. An extremely low ASB activity, 3.4 nmol, was found in one relative. No ASA band could be visualised in the enzyme electrophoretic patterns of the patients' leukocytes but the bands representing ASB appeared normal. Seven relatives showed ASA bands weaker than normal, and the relative with low ASB activity exhibited very weak ASB band. The low ASB activity in the patients and heterozygotes may be a characteristic feature of the slowly progressive juvenile type MLD diagnosed in the present series.

Adult↗

Diagnosis and management of brain death.

Finland was the first country in which brain death was legally accepted. Since 1975, 37 cases of brain death had been recorded in a university hospital in Finland, and these were reviewed. The cause for brain death was intracranial bleeding in 32 cases, other cerebrovascular disorder in two, and intracranial neoplasm in three. In 21 brain death was diagnosed clinically. In 16 cases confirmatory investigations (electroencephalography, cerebral angiography) were needed. After brain death had been established artificial support was withdrawn in 15 patients and organ transplantation was carried out in 10. In 12 patients, however, diagnosis of brain death did not influence management, though the heart stopped beating on average 25 hours after diagnosis. The Finnish criteria for brain death seem to be reliable and suitable for routine use.

Adolescent↗

Effect of birthplace on the development of amyotrophic lateral sclerosis and multiple sclerosis. A study among Finnish war evacuees.

After World War II the southeastern part of Finland was ceded to the Soviet Union and its entire population evacuated to other areas of the country. The prevalences of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) were studied among the evacuees and compared to the corresponding data among the nonevacuated population. The prevalence of ALS among the war evacuees was two times higher than among the nonevacuated population (18.0 and 8.8 per 100,000, respectively). The prevalence of MS among the evacuees was only half of that found among the nonevacuated population, 38.3 and 73.0 per 100,000, respectively. The findings for ALS indicate that birthplace may have an effect on the later development of the disease and that there may have existed some environmental factor(s) which have made the evacuees more liable to contract the disease later in their lives. The low figure of MS for evacuees supports our previous results of an uneven geographic distribution of MS in Finland with the high-risk areas in the western and southwestern parts of the country. No accumulation of MS was found among the evacuees living in the high-risk areas.

Amyotrophic Lateral Sclerosis↗