[Renaissance of research on muscular diseases].
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Humans↗
Biomedical subjects
M Haltia
Publications and source records attributed to M Haltia.
Postnatal differentiation and growth of skeletal muscle fibres in normal and undernourished rats. A histochemical and morphometric study.
The postnatal differentiation and growth patterns of the different histochemical muscle fibre types were studied at frequent age intervals in the extensor digitorum longus (EDL) muscle of normal rats and animals subjected to pre- and postnatal protein-calorie undernutrition. Three stepwise changes were seen in the fibre type composition of the EDL muscle during maturation. In newborn normal rats 2 histochemically and morphometrically distinct fibre populations occurred: small foetal type (type F) fibres or myotubes (about 90%), with the staining characteristics of the so-called type 2C fibres, and larger type 1 fibres (10%). At 5 days of age the percentage of type F fibres had dropped to 50 simultaneously with the emergence of a new population (40%) of type 2B fibres, intermediate in cross-sectional area between the remaining type F fibres and type 1 fibres. Between 15 and 20 days the small type F fibres practically disappeared with the emergence of a corresponding percentage (40%) of type 2A fibres, smaller than both type 1 and type 2B fibres; Between 20 and 60 days the percentage of type 1 rose from 10 to almost 30, type 2B fibres correspondingly diminishing in number but growing at a faster rate than either type 1 or type 2A fibres. In the undernourished rats the histochemical differentiation was retarded at birth, all fibres or myotubes being of the foetal type; However, large type 1 and type 2B fibres were seen at the age of 5 days and the histochemical maturation proceeded almost normally at later stages. On the other hand, at all ages there was a proportional reduction in the cross-sectional area of all fibre types, amounting to about 50% at 180 dyas, and not fully restituted by nutritional rehabilitation. These observations suggest that type F (type 2C) fibres are the undifferentiated precursors of all mature muscle fibres, their stepwise histochemical transformation raising the question of maturational differences in the different types of motoneurones.
Adenosine Triphosphatases↗
Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis?
Two sisters are described with demonstrable splenomegaly already from infancy and, after the age of 2--4 years, signs of slowly progressive encephalophy, vacuolated lymphocytes in the peripheral blood, and peculiar foam cells in the bone marrow aspirates. The died at 7 3/4 and 6 1/2 years. Widely spread in the brain, the nerve cell bodies were found to show extensive ballooning. It was most striking in the brain stem and spinal cord, while cerebellar structures were remarkably well preserved. The cytoplasm of the ballooned nerve cells was filled with finely granular storage material stainable as a readily soluble glycolipid. The spleen, liver and intestinal wall contained numerous foamy PAS-positive macrophages. Chemical assays showed a ten-fold increase of lactosylceramide and a modest one of minor gangliosides brain cortex. No accumulation sphingomyelin could be revealed, and the sphingomyelinase activity was found to be normal. The ganglioside GM1 beta-galactosidase activity of leucocytes was reduced to 20--25% of normal, which indicated a disturbance of the glycosaminoglycan metabolism. The tissue content of glycosaminoglycans was, however, normal, but an accumulation of lactose was demonstrated in the spleen. It is postulated that the primary enzymic defect is a disturbance of a lysosomal beta-galactosidase with a substrate specificity for lactose and other oligosaccharides with a terminal beta-galactosidic linkage.
Bone Marrow↗
Measles retinopathy during immunosuppression.
A 14-year-old boy had an acute attack of measles while on cytotoxic chemotherapy for a testicular neoplasm. Two months later a fatal measles encephalopathy developed, verified by histological, ultrastructural, and immunofluorescent studies. Ophthalmoscopy showed progression of flat depigmented areas of the retina as well as prominent lesions mimicking central serous retinopathy or retinitis. Histopathological studies showed focal retinal necroses with invasion of pigment-laden macrophages into the retina. There were no inflammatory cell infiltrations in the choroid. The presence of structures with the morphological and antigenic properties of measles virus in the affected areas of the retina was shown by electron microsocpy and indirect immunofluorescence. With the increase of immunosuppressive therapy for various purposes the incidence of opportunistic measles virus infections is likely to rise. In the clinical management of such complications ophthalmological examination may prove very helpful.
Adolescent↗
Measles encephalopathy during immunosuppression (MEI)
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Adolescent↗
Differentiating intracerebral neuroblastoma: report of a case and review of the literature.
A case of the rare primary intracerebral neuroblastoma is reported. The patient, a 13-year-old girl, was subjected to craniotomy because of a right frontal tumor. The removed tumor tissue was composed of immature, highly cellular areas with numerous mitotic figures, adjacent to fields with Homer-Wright rosettes, and areas consisting of neuroblasts and mature neurons. There was no evidence of a primary tumor elsewhere in the body and 25 months after the operation and postoperative irradiation, the patient is without any signs of recurrence. Determination of catecholamines and their metabolites in the urine and cerebrospinal fluid gave normal results. Dense-corded vesicles could not be detected in the tumor cells by electron microscopy. A review of previously reported cases of primary intracerebral neuroblastomas is included. The cell of origin and the possibility of transition of a differentiating intracerebral neuroblastoma to ganglioneuroma are discussed.
Adolescent↗
Fatal measles encephalopathy with retinopathy during cytotoxic chemotherapy.
A 14-year-old boy receiving post-operative cytotoxic chemotherapy for a testicular rhabdomyosarcoma developed a fatal encephalopathy associated with retinal changes 2 months after an episode of acute measles. Post-mortem histological examination showed intranuclear inclusion bodies in the neurons and glial cells, but inflammatory cell infiltrations were absent. Electron-microscopic and immunofluorescent studies revealed intracellular masses of paramyxovirus nucleocapsid-like structures, which had the morphological and antigenic properties of measles virus. Recent reports have emphasized the possibility of occurrence of a similar encephalopathy in treated childhood leukemia. It is evident, however, that this potentially fatal complication must be borne in mind when measles is contracted during any form of cytotoxic treatment or immunosuppression. Retinal changes may be of value for the diagnosis during life. We propose the designation "measles encephalopathy during immunosuppression" (MEI) for this condition.
Adolescent↗
Atelencephaly.
A 13 1/2-month-old boy with severe microcephaly was found to have nearly total absence of the telencephalon. The patient had marmorated skin, hypoplastic penis and undescended testes. Spastic tetraparesis was present. Moro, grasp and sucking reflexes were easily elicited. He could not sit or stand, but was able to raise and support his head. He had occasional convulsions and a tendency to hypothermia and vomiting. The EEG showed symmetrical low-voltage theta-delta activity. His psychomotor development was severely retarded. Bone age was normal. Head circumference was 28cm at six months and did not increase after this age. At autopsy the small cranial vault and meninges were found to be intact. Brain weight was 105g. The supratentorial part of the brain was extremely small, consisting of an irregularly lobulated mass about 3cm in diameter and without any median fissure or ventricular cavity. The telencephalon was severely involved and partly replaced by gliomesenchymal scar tissue, while the diencephalic structures, including the eyes and the optic nerves and chiasm, were comparatively well-developed. The cerebellum and brain stem were essentially intact.
Brain↗
Histochemical and electron microscopic observations on the myoneural junctions of rats with carbon disulfide induced polyneuropathy.
Myoneural junctions in the tibialis anterior muscle of rats with clinical signs of polyneuropathy induced with carbon disulfide were studied by light and electron microscopy. Histochemically demonstrable acetylcholinesterase (AChE; E.C. 3.1.1.7) activity was distributed similarly in the myoneural junctions of both the exposed and the control rats. In both groups intense enzyme activity was localized at the level of the post-synaptic membrane of the myoneural junction. The postsynaptic infoldings of the myoneural junctions of the exposed rats appeared normal. No enzyme activity was seen outside the zone of the myoneural junctions. The ultrastructure of the sub-sarcolemmal space, as well as the postsynaptic membranes of the myoneural junctions of the exposed animals, was normal. In the terminal axons signs of various degrees of degeneration were present, e.g., disappearance of the preterminal axoplasmic neurotubules, partial disappearance of synaptic vesicles, appearance of dense bodies, and even total disappearance or destruction of the terminal axons. Synaptic clefts were often widened with Schwann cell interposition. It thus seems that systemic carbon disulfide poisoning primarily alters the presynaptic structures of the myoneural junctions, while the postsynaptic side remains relatively intact, especially since the histochemical distribution of AChE in myoneural junctions was normal.
Acetylcholinesterase↗
[Creutzfeldt-Jakob disease--contagious dementia].
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Creutzfeldt-Jakob Syndrome↗
[Creutzfeldt-Jakob disease. The 1st cases diagnosed in Finland].
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Aged↗
Calcification of the perineurium. A case report.
Necropsy of a patient who died of uremia complicating juvenile diabetes revealed selective calcification of the perineurial sheaths in the sciatic nerves. The calcium phosphate deposits were limited to the outer layers of the perineurium while the innermost lamellae were free. Structural analysis, including electron diffraction and X-ray microanalysis, showed electron-dense, spicular deposits, which were composed mainly of finely crystallized hydroxyapatite. The end-stage diabetic nephropathy of the patient was associated with an extremely high calcium phosphorus ion product known to favour metastatic calcification. The mechanism of the selective localization of the calcium phosphate deposits to the outer layers of the perineurial sheaths is discussed with reference to the structure and suggested barrier function of the perineurium in regard to phosphate ions.
Adult↗
Low and moderate concentrations of lysobisphosphatidic acid in brain and liver of patients affected by some storage diseases.
The relative amount of lysobisphosphatidic acid (LBPA), known also as bis(monoacylglycerly)phosphate, among the total phospholipids was analyzed in post mortem samples of brain and liver of patients affected by four storage diseases. In spite of the extensive accumulation of storage lysosomes, none of the samples revealed a highly evelated LBPA content comparable to that found in the liver in Niemann-Pick disease and in the liver in lipidosis induced by 4,4'-diethylaminoethoxyhexestrol. We conclude that, although LBPA is often present in high concentration in lysosomes of many types of cells, it is not always a major component of these organelles.
Adolescent↗
Recent findings on some "new" neurometabolic diseases.
The most common inborn error of glycoprotein catabolism appears to be aspartylglycosaminuria (AGU). It is characterized by deepening mental retardation, progressive lesions of connective tissue, and increased urinary excretion of aspartyglycosylamine. The first symptoms usually appear after 3 years of age and closely resemble those of Hurler's disease. The condition is a hereditary lysosomal storage disease due to a defective enzyme. The main clinical findings in a infantile type of neuronal ceroid-lipofuscinosis (INCL) are psychomotor retardation, visual failure, and a virtually isoelectric E.E.G. at the final stage of the disease. The symptoms of this hereditary disorder first appear between 8 and 18 months of age and the mean age at death is 6.5 years. Striking cerebral and cerebellar atrophy, together with neuronal loss and accumulation of lipofuscin-like material, can be observed at neuropathological examination.
Amidohydrolases↗
[Clinico-pathological conference XXXII. Progressive cerebral disease in a child].
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Brain↗