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Biomedical subjects

I Niebrój-Dobosz

Publications and source records attributed to I Niebrój-Dobosz.

At least 19 recordsLinked to original sources
PubMed2000

Dystrophinopathies in females.

Various laboratory tests were performed to establish carriership in 24 familial and sporadic carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The activity of creatine kinase was in all females but one, very high and significantly higher in isolated carriers; quantitative EMG indicated myopathic changes, muscle biopsies revealed different degrees of changes--from a variability of muscle fibers size and central nuclei to severe dystrophic features. Immunohistochemical evaluation of dystrophin revealed, in all females but one, mosaic pattern of staining--a mixture of dystrophin-positive and dystrophin-negative fibers, the latter consist 15-30% of all fibers. Quantitative evaluation of dystrophin showed a reduced abundance with normal or abnormal molecular weight. The abnormalities were more expressed in sporadic cases. The detection of sporadic carriers, particularly the non-manifesting clinical, is a very important progress--it permits the correct diagnosis (before, these females were diagnosed as limb girdle muscle dystrophy (LGMD) and supply them with the benefit of genetic counselling, which also requires some modification.

Adolescent↗
PubMed1999

Cytotoxic activity of serum and cerebrospinal fluid of amyotrophic lateral sclerosis (ALS) patients against acetylcholinesterase.

The activity of acetylcholinesterase (AChE) was tested in serum of 20 cases of amyotrophic lateral sclerosis (ALS), 4 "disease controls" and 20 age-matched healthy normals. The AChE activity has been tested also in cerebrospinal fluid (CSF) of 20 ALS patients, 2 "disease controls" and 10 normal subjects. An increase in serum AChE was present in the majority of ALS patients with a mild course of the disease, in the severe ALS group elevated serum AChE activity was a rare finding. Serum ACHE was also increased in multifocal motor neuropathy (MMN). In the majority of mild and severe ALS the CSF AChE activity was decreased. No AChE changes were found in CSF of the "disease controls". Serum and CSF ultrafiltrates of ALS patients and "disease controls" were modifying in vitro the spinal cord AChE activity. In the mild ALS group serum and CSF ultrafiltrates with high molecular weight compounds were decreasing the AChE activity. On the other hand in the severe ALS group serum and CSF ultrafiltrates with low molecular weight compounds were increasing the AChE activity. AChE was modified also in some of the "disease controls", especially in MMN and Guillain-Barré syndrome (GBS) by serum ultrafiltrates containing high molecular weight compounds. The AChE activity in serum and CSF is the consequence of the enzyme leakage from brain, degenerating cholinergic neurons and neuromuscular junctions. We suggest that because of the evoked peripherally divergent changes of the enzyme activity, the AChE values in serum and CSF in ALS do not equal to the degree of the changes in the affected tissues and cannot be taken into account in the prognosis of the disease in particular ALS cases.

Acetylcholinesterase↗
PubMed1995

Immunoblot analysis of sarcoplasmic calcium binding proteins in Duchenne muscular dystrophy.

The Western blotting technique was used to detect parvalbumin and S-100 protein in muscles from 10 Duchenne muscular dystrophy (DD) patients, 13 patients with other muscle diseases and 5 age-matched healthy subjects. DD muscles were found to contain decreased amounts of parvalbumin and the S-100 protein. The parvalbumin level did not relate to the age of the patients and the stage of the disease. The S-100 protein decreased progressively with the age of the patients. In a very advanced DD case the S-100 protein was present in trace amounts. In other primary myopathies, including Becker dystrophy, and neurogenic muscular atrophy both parvalbumin and S-100 protein levels were similar to that observed in healthy subjects. The decrease in the amount of both calcium binding proteins may contribute to the elevation of free intracellular Ca2+ level in the sarcoplasm of dystrophic muscle and would result in abnormalities in processes regulated by these proteins. The mechanism(s) responsible for the decrease of parvalbumin and S-100 protein in DD muscles are discussed.

Adolescent↗
PubMed1994

Immunochemical analysis of some proteins in cerebrospinal fluid and serum of patients with ischemic strokes.

Immunochemical studies of gamma gamma-neuron specific enolase (NSE), parvalbumin (PV), S-100 protein (S-100) and acidic fibrillary glial protein (GFAP) were studied in the cerebrospinal fluid and blood serum in 7 patients with ischemic cerebral stroke, aged 57 to 81 years. Cerebrospinal fluid and the first blood sample were taken on the first or second day of the disease. Further blood samples were taken once a week till the end of patients hospitalization, ending by patients discharge or death. Immunochemical identification of proteins under study were performed with Western-blotting technique. It was found that all proteins studied were present in both cerebrospinal fluid and blood serum on the first two days of the disease in small quantities. The blood content of both NSE and PV increased significantly during the first week of the disease. Both proteins disappeared from the blood serum between the second and fourth disease weeks. S-100 protein and GFAP contents in the blood reached significantly high level within the time interval between second and fifth disease weeks, and remained at a relatively high level till patients' death. In all cases computed tomography study and/or brain autopsy revealed extensive ischemic foci localized within areas supplied by the middle cerebral artery. No clear-cut correlation between extensiveness of the ischemic cerebral damage and the content of the proteins studied in both cerebrospinal fluid and blood serum was found. However, our data indicate that serial studies of the above proteins in patients with ischemic stroke may be useful in monitoring the progress of the disease, and occasionally in the prognosis at least in some cases.

Aged↗
PubMed1992

Influence of aging on the protein profile of myelin isolated from human brain white matter.

Myelin proteins composition was examined in material of 20 autoptic cases at ages from 20 to 97 years. The technique of polyacrylamide gel electrophoresis and isotachophoresis was applied. In polyacrylamide gel electrophoresis a progressive increase starting at the age of 60 years of Wolfgram protein at the expense of Folch-Lees proteolipid protein and DM-20 protein was observed. The myelin-associated protein started to increase in the 4th and 5th decade of life, returning thereafter to values observed in younger cases. The isotachophoretic technique did not differentiate the changes observed in myelin protein in the course of aging.

Adult↗
PubMed1992

Blood-cerebrospinal fluid barrier integrity in cerebral infarction.

Using a sensitive isotachophoretic technique total cerebrospinal fluid protein, CSF-serum albumin and CSF-serum IgG ratios as indicators of blood-CSF barrier integrity were determined in 35 cases of ischemic cerebral infarction. Since it proved to be changed in about 57% of these patients, the CSF-serum albumin ratio was found to be the most sensitive parameter in evaluating the blood-CSF barrier disturbances. No clear-cut correlation was found between the age of patients, the clinical course of the disease, different periods after onset of the illness nor the size of the infarction and CSF-blood barrier permeability.

Aged↗
PubMed1985

Lipid storage myopathy in Kearns-Sayre syndrome.

A 7-year-old girl had external ophthalmoplegia, limb weakness, short stature, hearing loss, pigmentary degeneration of the retina, and increased CSF protein content. Muscle biopsy revealed vacuolar myopathy with accumulation of lipids. Electronmicroscopy showed abnormalities of shape, size, and internal structure of muscle mitochondria. Muscle activity of palmitoyl-CoA synthetase was decreased, and the content of lipids was increased. Serum and muscle carnitine levels were normal, as were muscle carnitine palmitoyltransferase and carnitine acetyltransferase.

Child↗
PubMed1984

Is central core disease with structural core a fetal defect?

Morphological and biochemical studies were performed in three cases of congenital non-progressive myopathy in two generations of the same family. In the muscle biopsy nearly all the fibres were uniform in enzyme activity and belonged to type 2 C. Typical structural central cores were observed in 90% of the muscle fibres. Some ultrastructural characteristics of the core area, as well as disturbances of the myofibrillar proteins pattern, seen in the examined cases suggest that core formation may be a result of protein synthesis disturbances in an early stage of myogenesis.

Adult↗
PubMed1984

Experimental porcine malignant hyperthermia: macromolecular characterization of muscle plasma membranes.

The purpose of this study was to examine muscle plasmalemma which is implicated as the site responsible for the appearance of malignant hyperthermia in human and susceptible strains of animals. In pigs with malignant hyperthermia (MH) the activity of Na+/K+, Mg2+-ATPase, p-nitrophenylphosphatase and Mg2+-ATPase fell significantly during anaesthesia. In the control group the contrary occurred. In both the groups tested there was a marginal rise in the levels of sialic acid. The levels of cholesterol and lysoderivatives were abnormal before the provoking agents were administered but they changed significantly after onset of the MH syndrome. Anaesthesia reduced the phospholipids level in both tested animal groups. Before and after the provoking agents an impoverishment in the polypeptide pattern in the range between 80,000 and 30,000 daltons of mol. wt. in MH susceptible animals occurred. It is postulated that in MH the macromolecular disorganization of the muscle plasma membranes means that defence mechanisms maintaining cell gradients do not work in the presence of provoking agents.

4-Nitrophenylphosphatase↗
PubMed1983

Clofibrate-induced myotonia in rats.

Determination of enzymatic activity, protein profile and phospholipid composition of muscle plasma membranes and sarcoplasmic reticulum in rats were carried out after clofibrate injections in a dose of 0.4 g/kg body weight. In the plasma membranes, the activity of Na+ + K+, Mg2+ ATPase was insignificantly decreased, and that of 5'-nucleotidase significantly diminished. A non-significant change was observed in the total amount of phopholipids. The amount of phosphoethanolamine appeared to be lower. Changes in the protein profile were seen. In the sarcoplasmic reticulum, the major abberation was the decrease of Mg2+ ATPase activity. No evident changes were observed in the phospholipid behaviour. Abnormalities in the protein profile appeared. In the myofibrillar proteins, increases of alpha-actinin and troponin at the expense of myosin were observed. In the clofibrate model of myotonia in rats, the changes in the biochemical parameters were less pronounced as compared to the previously tested 20,25-diazacholesterol model.

Adenosine Triphosphatases↗
PubMed1982

The distribution of inside-out and right-side-out erythrocyte membrane vesicles in Duchenne progressive muscular dystrophy.

In ten cases of Duchenne muscular dystrophy, the distribution of erythrocyte ghost vesicles in dextran 110 gradient was examined. When compared with controls a greater number of inside-out vesicles was observed. It is suggested that the tendency to form abnormally oriented vesicles could result from structural abnormalities of the erythrocyte membranes.

Erythrocyte Membrane↗
PubMed1982

Experimental porcine malignant hyperthermia: the activity of certain transporting enzymes and myofibrillar calcium-binding protein content in the muscle fibre.

The activity of enzymes transporting calcium across the membrane of the muscle fibre and sarcoplasmic reticulum was studied. The activity of actomyosin Mg2+-ATPase and the composition of troponin were investigated also. In seven Pietrain pigs halothane alone or with suxamethonium induced the malignant hyperthermia syndrome. In the animals with malignant hyperthermia Ca2+-ATPase was not activated in the plasma membranes of the muscle fibres, when compared with control animals (n = 4). An increase of Ca2+-ATPase of the sarcoplasmic reticulum was observed in animals with malignant hyperthermia; the opposite was noted in the control group. No significant changes in the activity of Mg2+-ATPase of the sarcoplasmic reticulum and of Mg2+-ATPase of actomyosin were observed after exposure to halothane in control pigs and those with malignant hyperthermia. The amount of troponin C was significantly changed in the animals with malignant hyperthermia. The mechanism of the development of malignant hyperthermia syndrome is discussed.

Actomyosin↗
PubMed1981

[Na+ + K+] Mg2+-ATPase of muscle plasma membranes in Duchenne muscular dystrophy.

The activity of [Na+ + K+] Mg2+-ATPase of muscle surface membrane was investigated in 20 cases of the Duchenne type of progressive muscular dystrophy; it was found to be diminished and to have a changed reactivity to ouabain. There was nothing like it in cases of limb-girdle dystrophy and neurogenic muscular atrophies investigated for the purpose of comparisons, whereas in some cases of myotonic dystrophy and myotonia congenita the activity of the ATPase was indeed depressed, but the response to ouabain invariably remained normal.

Cardiac Glycosides↗
PubMed1980

Correlative biochemical and morphological studies of myelination in human ontogenesis. I. Myelination of the spinal cord.

Biochemical, light and electron microscopic observations in six human fetuses between the 16th and 34th weeks of gestation and five infants, 1 day to 3 years old, are presented. The results indicate that myelination of the human spinal cord started before the 16th week of gestation, as a considerable amount of myelin is isolated at this time biochemically, and occasionally axons with loose myelin coils are observed in the electron microscope. It is also stressed that morphological studies are insufficient to evaluate the completion time of the myelination process, as it can be shown biochemically that qualitative myelin maturation takes a long time.

Axons↗
PubMed1980

Correlative biochemical and morphological studies of myelination in human ontogenesis. II. Myelination of the nerve roots.

Biochemical and morphological observations of nerve roots in six fetuses from the 16th to 34th week of gestation and five infants 1 day to 3 years old are presented. In dorsal roots the process of myelination begins later than in the ventral roots and spinal cord and proceeds much slower. As in the spinal cord during nerve roots myelin maturation profound lipid changes are observed.

Child, Preschool↗