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Biomedical subjects

H Stibler

Publications and source records attributed to H Stibler.

85 records · Page 5Linked to original sources
PubMed1976

Isoelectric focusing and electrophoresis of cerebrospinal fluid proteins in muscular dystrophies and spinal muscular atrophies.

In the very few previous investigations of the CSF-proteins in muscular dystrophies the results have generally been reported as normal. In spinal muscular atrophies a barrier-damage pattern of CSF-proteins has been found in amyotrophic lateral sclerosis (ALS). In the present investigation the CSF-proteins were examined by isoelectric focusing and quantitative paper electrophoresis in 13 patients with muscular dystrophies and in 11 patients with spinal muscular atrophies. On isoelectric focusing, CSF-protein abnormalities were found in 85% of the cases with muscular dystrophies and in all patients with spinal muscular atrophies. Differences in the CSF-protein patterns were observed within the group of muscular dystrophies and between these and the cases of spinal muscular atrophies. In ALS and in myotonic dystrophy, abnormal CSF-protein fractions occurred mainly in the alkaline pH-range, while in limb-girdle dystrophy and the patient with facioscapulohumeral dystrophy, aberrant fractions appeared mainly in the acidic region. CSF-protein abnormalities were found in both the alkaline fractions (HAFs) with pI 9.2-9.6 and a fraction with PI 7.1 were found in half of the patients with myotonic dystrophy. The CSF electrophoresis in myotonic dystrophy showed increased levels of beta1-globulin in all cases examined. Signs of barrier-damage were commonly encountered in ALS in contrast to the muscular dystrophies, except for myotonic dystrophy. The results are discussed in terms of possible diagnostic value and with regard to pathogenetic significance, particularly in relation to the current hypothesis of a neural involvement in muscular disorders.

Adult↗
PubMed1975

Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia.

The CSF findings in hereditary ataxias and allief disorders have hitherto mostly been reported as normal if one excludes Refsum's syndrome. The CSF-protein patterns found on isoelectric focusing and quantitative paper electrophoresis were studied in 12 patients with hereditary ataxias and hereditary spastic paraplegia. Using a recently-developed technique of isoelectric focusing of CSF-proteins in flat beds of polyacrylamide gel, the authors could show abnormal CSF-protein patterns in all but 1 of the present cases. The aberrant CSF-protein patterns found showed differences between the syndromes studied. Two unique patterns with conspicuous fractions in the acid range were observed in patients with Marie-Sanger-Brown's ataxia (mother and daughter) and Holmes' ataxia. A third CSF-protein pattern was found in a sibship with Friedreich's ataxia including a double fraction in the acid region (pI 5.9-6.1) in all 4 subjects and a highly alkaline fraction (HAF) with pI about 9.3, in 3 of them. Similar acid fractions (pI 5.9-6.1) were also detected in 3 of 4 patients with hereditary spastic paraplegia, a brother and sister showing a very similar CSF-protein pattern. Double fractions with pI 5.9-6.1 and/or HAF may also occur in other neurological diseases, mostly, however, associated with other distinctive features of their CSF-protein patterns. A possibility in the future of distinguishing hereditary CNS-diseases by examination of the CSF-protein pattern is suggested.

Abetalipoproteinemia↗
PubMed1975

Cerebrospinal fluid protein patterns in spasmodic torticollis.

In order to investigate the value of CSF-protein analyses in spasmodic torticollis CSF from six patients with probable organic and two patients with probable psychogenic torticollis was examined by isoelectric focusing and electrophoresis. In all the patients with organic torticollis two pathological CSF-protein fractions were found in the alkaline region on electrofocusing and in four cases aberrant fractions occurred also in the acidic pH range. An increasing number of abnormal fractions were noted during at least the first year after onset of symptoms. Lithium treatment of three patients resulted in a striking decrease of torticollis as well as of the number of abnormal CSF-protein fractions. During placebo treatment of two cases, torticollis and the pathological CSF-proteins recurred. Some observations, including a few previous autopsy findings, might indicate that an encephalitogenic agent is involved in the pathogenesis of organic torticollis. In the patients with psychogenic torticollis the CSF-protein pattern was normal. This investigation supports a recent suggestion that organic and psychogenic torticollis might be distinguished by electrofocusing of the CSF-protein.

Adult↗
PubMed1974

Protein pattern or cerebrospinal fluid in spasmodic torticollis.

The protein patterns found on isoelectric focusing and quantitative paper electrophoresis of cerebrospinal fluid were studied in three patients with spasmodic torticollis. Very alkaline end fractions were found on isoelectric focusing in the CSF-gammaglobulin region in each case. Alkaline end fractions in the CSF-gammaglobulin region with similar or same isoelectric points have also been observed in other extrapyramidal disorders, particularly Huntington's chorea, and in other neurological diseases, especially in multiple sclerosis. It has to be shown if these alkalline end fractions consist of the same or different compounds, conceivable constituents being mentioned. Examination of the CSF-protein pattern might help to distinguish organic from hysterical torticollis.

Adult↗
PubMedDate not supplied

Carbohydrate-deficient transferrin (CDT) in serum in women with early alcohol addiction.

Carbohydrate-deficient transferrin (CDT) in serum was determined by micro anion exchange chromatography and a transferrin radioimmune assay in 58 consecutive women treated for early alcohol dependence compared, with 62 healthy females with an alcohol consumption of 0-15 g of ethanol/day. The upper normal CDT level was 74 mg/l. CDT was elevated above this value in 83% of the alcoholic women with an intake of 60 g of ethanol/day or more for at least 7 days within the preceding two weeks. CDT values were significantly positively correlated with daily alcohol consumption but not with GT, ASAT, ALAT or MCV. During abstinence CDT level declined exponentially with a half-life of 14 +/- 3 days. The results indicated that CDT may be as sensitive and specific a marker in women with early alcohol addiction as in previously studied male alcoholics. The amount of alcohol consumed appeared to be more important than sex or liver function. Determination of CDT may thus offer a means for early objective diagnosis and adequate treatment also of women in early stages of alcoholism.

Adolescent↗
PubMedDate not supplied

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavian patients. It is characterized by carbohydrate deficiencies of a number of glycoproteins, including uniform changes in transferrin. The transferrin alterations provide a distinct biologic marker and a practical and simple laboratory diagnostic means employing analysis of serum or blood spots from Guthrie-type filter paper. The syndrome presents differently through various life periods. A four-stage grouping system by age has been constructed and is presented. During infancy, internal organ symptoms are dominant; some may be life-threatening. In later childhood and adolescence, static mental deficiency, cerebellar ataxia, slowly progressive lower limb neuropathy, and pigmentary retinal degeneration, as well as secondary skeletal deformities, are the most prominent findings. Two very recently described clinical and biologic variants, CDG syndromes II and III, are summarized and compared to CDG type I.

Adolescent↗
PubMedDate not supplied

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.

The gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1) has previously been localised by us close to marker D16S406 in chromosome region 16p13.2-3. We also presented data indicating a strong founder mutation associated with a specific haplotype in CDG I patients from western Scandinavia. The phosphomannomutase 2 (PMM2) gene was recently put forward as a likely CDG1 candidate gene. We have now shown that the specific haplotype is associated with the PMM2 mutation 357C > A. Using data from radiation hybrid panel we have refined the position of the PMM2 gene to very close to marker D16S3020 in the interval between D16S406 and AFM282ze1 on the distal side and D16S3087 on the proximal side. Due to the severity of the disease many families request prenatal diagnostic services for CDG I. In the meantime, until the mutation spectrum is fully examined, we propose the combined use of mutation analysis and linkage analysis with polymorphic markers as diagnostic tools for Scandinavian CDG I families requesting prenatal diagnosis. Using this strategy we have to date successfully performed 15 prenatal diagnoses for CDG I.

Base Sequence↗
PubMedDate not supplied

Changes in (Na+ + K+) ATPase activity and the composition of surface carbohydrates in erythrocyte membranes in alcoholics.

(Na+ + K+)ATPase activity and sensitivity to the inhibitory effect of ethanol and noradrenaline in vitro as well as the concentrations of sialic acid, galactose, and hexosamine were determined in erythrocyte membranes in 20 healthy controls and in 20 alcoholic patients within 24 hr of withdrawal. Basal (Na+ + K+)ATPase activity, the sensitivity of the enzyme to inhibition by ethanol and noradrenaline added in vitro, and the concentrations of sialic acid and galactose were significantly reduced in the patients (p less than 0.0005). All of these abnormalities were significantly correlated to each other as well as to the estimated daily quantity of ethanol consumed. After enzymatic removal of terminal sialic acid and terminal and sialic acid-bound beta-galactose, the (Na+ + K+)ATPase differences between the patients and the controls were eliminated. The results showed that the previously reported reduced inhibition of (Na+ + K+)ATPase by ethanol in the presence of noradrenaline in brain membranes in chronically ethanol-fed animals is also found in erythrocyte membranes in alcoholic humans. Abnormal carbohydrate composition of glycolipids and/or glycoproteins of the membrane surface appeared to be related to the (Na+ + K+)ATPase changes, possibly due to interference either with K+ transport or surface electrostatics or, directly or indirectly, with the conformation of (Na+ + K+)ATPase.

Adult↗
PubMedDate not supplied

Abnormal fluidity and surface carbohydrate content of the erythrocyte membrane in alcoholic patients.

Erythrocyte membranes from 11 healthy individuals and 11 alcoholic patients, examined within 24 hr of withdrawal, were studied for membrane fluidity as assessed by fluorescence polarization of 1,6-diphenyl-1,3,5-hexatriene and for the concentrations of sialic acid and galactose in the membrane surface. Basal fluorescence polarization was significantly higher in the alcoholics and the membranes were clearly more resistant to the fluidizing effect of ethanol added in vitro. The concentrations of sialic acid as well as galactose were significantly reduced in the patients. The increased resistance to the fluidizing effect of ethanol added in vitro appeared to be functionally related to reduced concentrations of terminal sialic acid and terminal and sialic acid-bound beta-galactose in the membrane surface. The increased basal rigidity is probably due to concomitant changes in the lipid bilayer of the membrane. The results also showed, for the first time, that similar perturbations of membrane fluidity occur in human alcoholics as have been found previously in chronically ethanol-treated animals.

Adult↗
PubMedDate not supplied

Carbohydrate composition of serum transferrin in alcoholic patients.

Previous studies have shown that sialic acid-deficient isotransferrins appear in serum during chronic alcohol abuse. In this investigation whole serum transferrin from alcoholic patients and healthy controls was isolated by antitransferrin affinity chromatography and the total levels of sialic acid, galactose, N-acetylglucosamine, and mannose were analyzed. The results showed that the concentrations of sialic acid and galactose as well as N-acetylglucosamine were reduced in all of the alcoholics studied. These findings indicate that chronic ethanol misuse exerts a more complex effect on the glycans of transferrin than previously realized.

Acetylgalactosamine↗
PubMedDate not supplied

Ethanol exposure during brain ontogeny: some long-term effects.

The timing, intensity, and duration of the period of maximal susceptibility of the developing brain to ethanol have not been clearly elucidated. This study was designed to determine whether a lower blood ethanol concentration (BEC) or a brief exposure during the brain growth spurt in the rat might cause permanent brain damage. Two doses of ethanol (4 g/kg body weight daily during days 6-16 after birth and 6 g/kg on day 6 only after birth) were used. Significant differences in whole brain weight, a disproportionately decreased cerebellar weight, altered balancing ability, and a decreased number of cerebellar cells were observed on days 17 and 70 postnatally in both ethanol-treated groups as compared with controls. Cerebellar weight a both ages were more markedly affected in animals treated only on day 6 postnatally than in animals treated throughout the major portion of the brain growth spurt. These results suggest that episodic exposure to ethanol during peak brain growth may be just as devastating to brain development as chronic exposure throughout the major portion of the brain growth spurt.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Ethanol in preweanling rats with dams: body temperature unaffected.

At an ambient temperature of 24 degrees C, the neonatal rat was found to exhibit poikilothermic characteristics if separated from the dam. On day one after birth, at one hour after separation from dams, the body temperature in rat pups was found to be identical with ambient temperature. Preweanling pups, under these circumstances, were unable to maintain a constant body temperature prior to day 19 postnatally. No differences were observed in body temperatures of rat pups treated chronically (days 6-16 postnatally) with ethanol 4 g/kg body weight (in two 2 g/kg doses three hours apart), as compared with isocaloric isovolumetric milk-, or sham-treated control groups. A significantly lower temperature was observed only at 105 minutes after the first treatment in a group of rats acutely treated (one day only) with ethanol on day 22 postnatally as compared with an isovolumetric water control group. In adult rats, also treated acutely with ethanol, a significant hypothermic response occurred at 105 minutes after the first 2 g/kg dose and persisted during the remainder of the observation period. This study shows that body temperature was unaffected in neonatal Sprague-Dawley rats left with their dams after intubation with ethanol 4 g/kg body weight. Therefore any brain biochemical and/or structural alterations resulting from ethanol exposure, using this animal model, are not due to an ethanol induced hypothermic response.

Animals↗