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Biomedical subjects

A Oldfors

Publications and source records attributed to A Oldfors.

At least 109 records · Page 6Linked to original sources
PubMed1989

X-linked myotubular myopathy: clinical and pathological findings in a family.

A five-generation family with recessively inherited X-linked myotubular myopathy was investigated. Two of the affected boys, who were siblings and were verified by muscle biopsy to have the disease, died 3 days and 3 months, respectively, after birth. They showed marked hypotonus from birth, general muscle weakness and asphyxia. Three other boys, who were probably affected by the disease, had severe asphyxia and died shortly after birth. In three of the five cases there was polyhydramnios. The muscle biopsies of the two siblings revealed predominance of small fibres with central nuclei and accumulation of mitochondria in the central parts of the fibres. In one of the boys mainly the type 1 fibres were hypotrophic. The postmortem examination revealed variation in the involvement of different muscles, the anterior tibial muscle being the most severely affected. Intrafusal muscle fibres and myocardium were apparently unaffected. There was no involvement of the spinal cord. The clinical examination of two obligate carriers in the family revealed no muscle weakness but the muscle biopsy showed pathological changes including greatly increased variability of fibre size, and many fibres with central nuclei. The findings indicate that muscle biopsy is of value in genetic counselling to detect carriers although the observed changes were unspecific.

Adolescent↗
PubMed1989

Effects of growth hormone on skeletal muscle. I. Studies on normal adult rats.

A study was made on the effects of recombinant human growth hormone (rhGH) on fast and slow skeletal muscle in normal adult female rats. Daily injections of 4 IE of rhGH over 36 days resulted in increased levels of insulin-like growth factor I in serum and increased body weight. Morphometric analysis of the muscle fibres of the extensor digitorum longus (EDL) and soleus muscles revealed a significant increase in diameter of both type 1 and type 2 fibres in both muscles. The DNA: protein ratio and the number of satellite cells:muscle fibre in cross-sections was increased in the GH-treated rats in relation to controls. The results show that rhGH has pronounced effects on both cell proliferation and muscle fibre growth in skeletal muscle of normal adults rats.

Animals↗
PubMed1989

Effects of growth hormone on skeletal muscle. II. Studies on regeneration and denervation in adult rats.

The effects of human recombinant growth hormone (rhGH) on regenerating skeletal muscle after ischaemic necrosis and on denervated skeletal muscle were studied in normal adult rats. One group of rats was treated with 4 IE rhGH daily by subcutaneous injections, while control rats were injected with saline. The treatment with rhGH resulted in increased levels of insulin-like growth factor-I (IGF-I) in serum. Ischaemic necrosis was achieved in the extensor digitorum longus (EDL) muscle by cutting the supplying vessels and nerve fascicles at the entrance into the muscle. The wet weight and DNA: protein ration in the regenerating muscle were determined 2 and 4 weeks after the operation. The weight of the regenerating muscles in the rats treated with rhGH during the period of study was larger than in the control rats, while the DNA:protein ratio did not differ significantly between the groups. Denervation of the EDL and soleus muscles followed by subsequent reinnervation was obtained by freezing the sciatic nerve with a forceps chilled in liquid nitrogen. Rats treated with rhGH during the period of denervation and reinnervation, i.e. during the 4 weeks after the freezing of the sciatic nerve, revealed increased weight of both the reinnervated and normal muscles compared to corresponding muscles of control rats. Denervation of the EDL and soleus muscles without subsequent reinnervation was achieved by cutting the sciatic nerve at the level of the thigh. Four weeks after denervation the muscles showed atrophy, mainly affecting type 2 fibres in the EDL muscle and both type 1 and type 2 fibres in the soleus muscle.

Adenosine Triphosphatases↗
PubMed1989

The morphological sequences in man of de- and reinnervation in free muscle transfer with microneurovascular anastomoses.

Muscle biopsies from two patients treated by free gracilis muscle transfer and micro-neurovascular anastomoses for long standing facial palsy due to previous damage to the facial nerve during removal of tumours were examined by histochemistry and electron microscopy. Sequential muscle biopsies of one case taken at various intervals after transferring the muscle permitted the study of events of de- and reinnervation of human skeletal muscle. The changes in the early stages of denervation included atrophy of type 2B fibres. This was followed by progressive atrophy of all fibre types, distortion of the internal structure of the muscle fibres with the incidence of various cytoplasmic inclusions. Massive necrosis of the muscle did not occur. A prominent increase in satellite cells and their maturation to myotubes and new muscle fibres were evident. Reinnervation occurred with the formation of neuromuscular junctions some of them being at preformed sole plates. Fibre type grouping was apparent in addition to other changes such as the occurrence of targetoid hypertrophied muscle fibres. These changes are similar to those described previously during de- and reinnervation studies in experimental animals.

Adult↗
PubMed1988

Neuropathology of Salla disease.

A neuropathological study was performed on two patients with Salla disease, one male and one female, from different families. They both died at the age of 41 years. Both patients showed increased excretion of free sialic acid in the urine, psychomotor retardation starting in the 1st year of life, ataxia and spasticity. Several family members of both families were affected with the same disease indicating the hereditary character of the disorder. The neuropathological investigation revealed strikingly similar changes in the two cases. Macroscopically the cerebral white matter was severely reduced. Histologically marked loss of axons and myelin sheaths was accompanied by pronounced astrocytic proliferation. The remaining axons frequently showed ovoid swellings surrounded by a myelin sheath. The reduction of the number of myelin sheaths seemed proportional to the numerical reduction of axons. Many cortical nerve cells displayed in relation to age an abnormal amount of lipofuscin. Neurofibrillary tangles were observed in nerve cells of the neo-cortex, nucleus basalis of Meynert and locus ceruleus. Cerebellum showed moderate loss of Purkinje cells. In the spinal cord axonal degeneration was observed in both ascending and descending tracts.

Adult↗
PubMed1987

Mitochondrial encephalomyopathy. A variant with heart failure and liver steatosis.

We report the clinical and autopsy findings in a young man of 18 with a chronic progressive disorder comprised of lactic acidosis, mental deterioration, and epileptic seizures which were sometimes accompanied by stroke-like episodes with transient hemiparesis and cortical blindness. He died of congestive heart failure. The autopsy showed lesions of the gray matter of the brain. Both the putamen and parieto-occipital cortex showed loss of neurons and proliferation of macrophages, astrocytes and vessels. There was marked loss of neurons in the inferior olives, and slight reduction of the number of Purkinje cells. Skeletal muscle studies revealed ragged-red fibers and structurally abnormal mitochondria. The heart was enlarged: accumulations of mitochondria occurred in the muscle fibers. The liver exhibited marked fatty degeneration. Biochemical analyses showed normal activities of pyruvate dehydrogenase in thrombocytes, pyruvate carboxylase in lymphocytes, biotinidase in serum as well as succinate dehydrogenase and cytochrome c oxidase. The features of this disorder differ in many respects from cases of mitochondrial encephalomyopathy previously reported and cannot be assigned to any specific disease entity.

Acidosis, Lactic↗
PubMed1986

Cholera toxin B-subunit incorporation into synaptic vesicles of the neuromuscular junction of the rat.

The B-subunit of cholera toxin, a nontoxic macromolecule which binds specifically to GM1 ganglioside, was conjugated to colloidal gold and injected into skeletal muscle of the rat. It was taken up rapidly in vesicles in the terminal axons at the neuromuscular junctions. Injection of albumin-colloidal gold conjugates resulted in an insignificant uptake. The results indicate that uptake of extracellular macromolecules into the terminal axon of the neuromuscular junction may be greatly enhanced by binding to gangliosides at the presynaptic membrane, and that it may occur without association with vesicular recycling related to transmitter release.

Animals↗
PubMed1986

Nutritional rehabilitation of skeletal muscle in protein-deprived young rats.

The effect of severe protein deprivation and subsequent nutritional rehabilitation on the fibre size and mitochondrial enzyme activity of the extensor digitorum longus (EDL) and soleus muscles of the young rat has been examined. Protein deprived rats showed atrophy of type 2 fibres predominantly, reduced histochemical activity of succinic dehydrogenase (SDH) and reduced biochemical activity of citrate synthase. Nutritional rehabilitation indicated by resumption of the original body weight resulted in complete restitution of the weight of the muscles and the size of type 1 and type 2 fibres, but not of the activity of SDH and citrate synthase. The results indicate that regarding size, type 2 fibres tend to be more influenced than type 1 fibres by the nutritional supply. The mitochondrial enzyme activity which is decreased by protein deprivation does not regain the normal levels as quickly as the muscle fibres resume their normal size.

Animals↗
PubMed1986

Changes in specific gravity as a sign of disturbed brain maturation in protein-deprived rats.

The specific gravity of the cerebral cortex of normal and protein-deprived rats aged 15, 21 and 25 days was determined. The increase in specific gravity seen in control rats in the course of their development was reduced in protein-deprived rats in the course of the period between 15 and 21 days of age. The results are in agreement with previous reports on delayed maturation of the brain in protein-deprived rats and indicate that determination of brain specific gravity may serve as a suitable screening method in situations when a disturbed brain maturation is suspected.

Animals↗
PubMed1986

Clinical and muscle biopsy findings in malignant hyperthermia susceptibility.

Patients (155) were investigated for malignant hyperthermia susceptibility (MHS), by in vitro testing of muscle taken from the vastus medialis muscle. Histopathological and histochemical investigation of muscle was also performed. Ultrastructural investigation was performed in 13 MHS patients; 90% of the patients replied to a questionnaire concerning present or previous neuromuscular symptoms. The majority of MHS and MH negative (MHN) patients had no or only minor histopathological and histochemical abnormalities. Core-targetoid fibres were the only potentially important abnormalities found in MHS patients. There were no differences in neuromuscular symptoms between MHS, MHN and control patients, and most patients in both the MHS and MHN group were normal on clinical examination.

Adolescent↗
PubMed1986

The effect of beta-adrenergic blockade on the myopathic changes in experimental hyperthyroidism in rats.

Hyperthyroidism is frequently associated with myopathy. Beta-blocking agents, which are increasingly used in the treatment of hyperthyroidism, have been reported to have a possible beneficial effect on thyrotoxic myopathy. We have studied the myopathic changes in experimental hyperthyroidism in rats and the effect of the beta-blocking agents metoprolol and propranolol on these changes. During experimental hyperthyroidism, conversion of type 1 to type 2 fibres and accumulation of intracellular lipid, increased amounts of mitochondria, and reduced size of muscle fibers were noticed. None of these changes were prevented by metoprolol or propranolol. The results indicate that histochemical and morphological changes in skeletal muscle induced by thyroid hormone are not mediated by beta-receptors. The results of this investigation make dubious a beneficial effect of beta-blocking agents on thyrotoxic myopathy.

Adrenergic beta-Antagonists↗
PubMed1986

The influence of maternal protein deprivation on the developmental pattern of serum immunoreactive insulin-like growth factor 1 (IGF-1) levels.

The influence of maternal protein deprivation on body and brain growth and on serum immunoreactive insulin-like growth factor I (IGF-I) levels was examined in rats during development. The offspring of protein-deprived mothers were significantly growth-retarded postnatally and showed an altered developmental pattern of serum immunoreactive IGF-I levels. In contrast to control animals, between days 5 and 20 postnatally, a significant elevation in serum immunoreactive IGF-I levels which peaked at day 15 was found. However, in adult growth-retarded rats a significant reduction in serum immunoreactive IGF-I levels was found. These findings suggested the preweaning period to be critical for the development of the mature somatomedin system.

Animals↗
PubMed1983

Muscle changes in protein-deprived young rats. A morphometrical, histochemical and ultrastructural study.

Rats were reared on a standard diet up to the age of 6 weeks when they were divided into two groups. One was fed on a diet containing 14% protein and the other on a diet with only 1.5% protein. The size of the various fibre types of the EDL muscle of both groups was assessed at 6 and 25 weeks of age. All the fibre types of protein-deprived rats were smaller compared to the age-matched controls, the difference being most evident in the 2B fibres. In the protein-deprived rats the 2B fibres atrophied while the type 1 and type 2A fibres simply failed to grow. Histochemical and ultrastructural examination revealed a marked reduction of the subsarcolemmal mitochondria after prolonged protein deprivation; normally large accumulations of mitochondria are seen preferentially in type 2A fibres.

Animals↗
PubMed1982

Peripheral nerve fibre degeneration in protein-deprived young rats. An ultrastructural study.

In a previous study the occurrence of nerve fibre degeneration with a distribution as in dying-back neuropathies was described in young rats subjected to severe protein deprivation (Oldfors 1981). In this study the ultrastructural appearance of the degeneration of the nerve fibres at different levels of the longitudinal tail nerve in severely protein-deprived rats has been investigated. Various structural changes were noted, the most common being bands of Bŭngner indistinguishable from those seen in Wallerian degeneration. In nerve fibres which were less severely affected the most common finding was shrinkage of the axon with concomitant folding of the myelin sheath. Other structural changes included axonal accumulation of 10 nm filaments or mitochondria and other cell organelles, areas of demyelination, and projections of axolemma and Schwann cell membrane into the axon. Signs of axonal regeneration occurred but were infrequent. The degenerative changes seen at various levels of the nerves support the view that the neuropathy is of distal axonal type, but the structural appearance differs from several of the toxic dying-back neuropathies.

Animals↗
PubMed1981

Nerve fibre degeneration of the central and peripheral nervous systems in severe protein deprivation in rats.

Knowledge from previous reports that kwashiorkor in man may lead to nerve fibre degeneration prompted this study on rats. The rats were subjected to severe protein deprivation from 6 weeks of age. Protein deprivation was achieved by feeding the rats ad lib with a diet containing only 1.5% protein. Control rats received an iso-caloric diet with 14% protein. The vitamin content in both diets was well above normal requirements. In relation to body weight the protein-deprived rats did not consume less food than the control rats. Protein deprivation resulted in stunted body growth, markedly reduced values of serum albumin, and changes in the fur accompanied by areas of alopecia. Furthermore, the protein-deprived rats showed degeneration of nerve fibres in the medial parts of the posterior columns of the cervical but not the sacral part of the spinal cord and nerve fibre degeneration in the distal but not the proximal parts of the longitudinal tail nerves. Teased nerve fibre preparations of the tail nerves revealed changes consistent with the Wallerian type of degeneration. It is concluded that severe protein deprivation in young rats may lead to a "dying-back" type of neuropathy in the central and peripheral nervous systems.

Animals↗
PubMed1981

Storage of lipofuscin in neurons in mucopolysaccharidosis. Report on a case of Sanfilippo's syndrome with histochemical and electron-microscopic findings.

A histochemical and ultrastructural study was made on the brain of a 23-year-old man with Sanfilippo's syndrome. In accordance with previous reports the cortical nerve cells contained a PAS-positive lipid storage substance. This showed intense autofluorescence in UV-light and was positive with various stains for lipofuscin. The storage material appeared ultrastructurally as inclusion bodies composed of short lamellated membranes, granular material, and vacuoles. In addition, concentrically and transversely lamellated membranous cytoplasmic bodies were observed in the nerve cells. It is concluded that the PAS-positive lipid storage material in the neurons was composed partly of lipofuscin in addition to other lipids presumably glycosphingolipids.

Adult↗