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Biomedical subjects

H H Goebel

Publications and source records attributed to H H Goebel.

At least 199 records · Page 11Linked to original sources
PubMed1986

Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II with neurofilament accumulation.

Histological, electron microscopic and morphometric data on sural nerve, muscle, and skin biopsies of three patients affected by autosomal dominant hereditary motor and sensory neuropathy type II with neurofilament accumulation, whose neurological, cardiological and electrophysiological data have been provided in a previous paper disclosed focally enlarged myelinated axons, due to aggregation of neurofilaments in sural nerves of all 3 biopsied patients, as well as densely packed clusters of filaments in occasional non-myelinated axons without axonal enlargement, in several fibroblasts and endothelial cells in muscle and particularly in skin. This accumulation of filaments was less pronounced in our patients' tissues than in autosomal-recessive GAN. No ultrastructural differences concerning the accumulated filaments appear to exist between the affected cells of our patients and GAN. Taken together, these findings best fit a hereditary motor and sensory neuropathy type II with focal accumulation of intra-axonal neurofilaments.

Axons↗
PubMed1986

Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome).

Two children with the features of the "Muscle, Eye and Brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the Walker-Warburg syndrome discussed. The association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.

Abnormalities, Multiple↗
PubMed1986

Muscular alteration in agyria with pyramidal tract anomaly.

A 4-year-old boy with a history of muscular hypotonia, mental retardation, microcephaly, and generalized convulsions was found at autopsy to have agyria, agenesis of the anterior commissure and posterior corpus callosum as well as an abnormal decussation of pyramidal tracts which descended in the spinal dorsal columns. Postmortem muscular alterations included type IIc fiber hypertrophy and type I fiber grouping, variably expressed in individual muscles and intramuscular fascicles. This may represent a developmental delay compatible with a gestational age between the 34th and 40th week. These studies also indicate the importance of examining multiple samples of postmortem muscles and muscles from patients afflicted with cerebral malformations.

Cerebral Cortex↗
PubMed1985

Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?

Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with previously unencountered neurofilament accumulations. Neurofilament accumulation indicates that the axon could be a site for primary derangement and may implicate an abnormality of slow axonal flow. In addition, some of the patients exhibited features suggestive of a cardiomyopathy.

Adolescent↗
PubMed1985

A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects.

A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relatively mild type. The activity of acid ceramidase does not correlate with prognosis of the disease, while a correlation between first appearance of dermal nodules and clinical course appears likely.

Acid Ceramidase↗
PubMed1985

Mitochondrial myopathy--a result of clofibrate/etofibrate treatment? Case report.

A 66-year-old man had developed a myopathy while undergoing several periods of etofibrate and clofibrate therapy over the past 5 years. Discontinuation of etofibrate treatment failed to reverse his muscle illness which, however, did not progress. A muscle biopsy revealed a chronic myopathy marked by abundant, abnormally structured muscle mitochondria. His mitochondrial myopathy may represent a forme fruste of the Kearns-Sayre syndrome or other types of mitochondrial myopathy, clinically made evident by the etofibrate/clofibrate therapy, or a permanent, adverse side effect of clofibrate treatment. If the latter assumption proves to be correct, it will indicate that clofibrate therapy may induce an acutely painful but reversible neuromuscular illness, or also, though rarely, a chronic mitochondrial myopathy.

Aged↗
PubMed1985

Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the dalmatian dog.

Ultrastructural studies of the retinae in two NCL-affected Dalmatian dogs revealed ubiquitous accumulation of lipopigments in numerous cell types of the retina, the fine structure of which closely resembled that seen in NCL-affected English setters. Photoreceptors and other retinal cell types were largely intact. These findings show that the retinal involvement in NCL of our Dalmatian dogs is identical to that of NCL-affected English setters. It also shows that in canine NCL a severe retinopathy, regularly encountered in human childhood NCL, does not develop. Thus, the NCL of Dalmatian dogs--and English setters--represents a reliable model to study human NCL, but for human retinopathia pigmentosa perhaps only at its earliest stage.

Animals↗
PubMed1985

Recent advances in the morphology of myositis.

Myositis in man may be divided into infectious and non-infectious forms. The myopathologist more often deals with the latter forms which comprise dermatomyositis/polymyositis, inclusion body myositis, mixed connective tissue disease/collagenoses, and granulomatous myopathies. Modern morphological techniques as enzyme-histochemistry, electron microscopy, immunohistology, and morphometry are of different value in various forms of myositis, but are often indispensable techniques in up-to-date diagnostic work up of a myositis.

Dermatomyositis↗
PubMed1985

Ultrastructural study of primary canine and human pigmentary retinopathy.

An electron microscopic study was performed on eyes of Labrador dogs afflicted with progressive retinal atrophy (PRA). There was complete loss of photoreceptors, atrophy of the remaining retina and gliosis in the peripheral part while the central retina showed incomplete loss of photoreceptors and an almost total disappearance of photoreceptor outer segments. Melanin-bearing cells, largely containing melanolysosomes, were found deep inside the retina. This electron microscopic study also incorporated the retina of a middle-aged woman affected by retinopathia pigmentosa (RP). The fine structure of the diseased retina showed a similar pattern of lesions, more pronounced in the periphery of the retina. Similar electron microscopic findings between the two disease processes render PRA of the Labrador dog a useful model for a comparative study of the development and intraretinal spread of human RP.

Animals↗
PubMed1984

Esthesioneuroblastoma: ultrastructural, immunohistological and biochemical investigation of one case.

A case of esthesioneuroblastoma, the pathological diagnosis of which almost always causes great difficulties, was investigated ultrastructurally, biochemically, and immunohistologically, using antibodies against the five known types of intermediate filaments [keratin, vimentin, desmin, glial fibrillary acidic protein (GFAP) and neurofilaments]. The tumour cells did not react with antibodies against any of the five intermediate filament proteins. Ultrastructural investigations showed dense cored secretory granules in the cytoplasm and cell processes. Thus, immunohistology offers by "exclusion" a differential diagnosis to avoid often misdiagnosed tumours (undifferentiated carcinomas, embryonal rhabdomyosarcomas, and malignant lymphomas), since carcinomas react with antikeratin, embryonal rhabdomyosarcomas with antibodies to desmin and malignant lymphomas show immunofluorescence with antibodies to vimentin. The biological behaviour (age distribution, tendency to metastasize), the normal values of biochemical parameters, homovanillic acid and vanilmandelic acid (HVA, VMA), and the absence of neurofilaments distinguish this type of tumour from the peripheral sympathetic neuroblastoma.

Cytoplasmic Granules↗
PubMed1984

Ultrastructure of the Arthus Phenomenon in muscle.

Specific blood-tissue barrier alterations were observed in a 2-year-old boy with a myopathic lesion in his muscle. Close by, degenerative changes were present in muscle fibers, three types of vascular abnormalities, i.e. increased vascular permeability, neutrophil aggregation, and damage of endothelium with thrombi formation, suggest that a process of vasculitis took place in the muscle of this patient. On the basis of current information it is not entirely clear whether this Arthus-like reaction observed in the primarily affected muscle represents a widespread vascular bed defect or whether it is the consequence of an additional secondary symptom possibly dependent upon muscle necrosis.

Arthus Reaction↗
PubMed1984

Morphology of the gangliosidoses.

GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively. This intralysosomal "storage" in neuronal pericarya and their processes, and subsequent loss of such nerve cells provide the background for clinical symptoms of the central nervous system and the retina, while involvement of the peripheral nervous system and the visceral organs largely remains free of clinical findings. The morphological involvement of the latter organs is widespread though varying, thus allowing morphological investigations of lymphocytes, skin, or rectum for morphological diagnosis and as a screening procedure.

Astrocytes↗
PubMed1984

Centronuclear myopathy with special consideration of the adult form.

We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular ptosis in only one and facio-scapulo-peroneal syndrome in another patient. The morphological criteria for classification are central nuclei and the enzyme histochemical findings in muscle biopsies which did not show any significant progression over many years, more severe involvement of distal muscles in 2 patients and conspicuous presence of intrafascicular fat cells. 1 patient had associated minicores in a familial setting. Although electromyographic data comprised a mixed myopathic-neurogenic pattern, the morphological features in muscle biopsies did not further prove a neurogenic origin of our patients' neuromuscular disorder.

Adult↗
PubMed1984

Morphology of denervated human facial muscles.

17 biopsies of denervated facial muscles, the zygomatic, the orbicularis oris and the levator labii muscles, showed atrophic myofibers in most cases. There was loss of fiber typability when applying the NADH, the MAG and the alkaline ATPase reactions. The acid ATPase preparations allowed differentiation of myofibers into type I and type II without subtypes. Contrary to normal facial muscles that are richly endowed with motor endplates, no neuromuscular junctions were observed in denervated muscle fibers except one example which might have been obtained by false sampling from the marginal area of denervation or might be the result of partial reinnervation due to sprouting axons from the neighborhood. There was no correlation between the degree of muscle fiber atrophy and the duration of the paralysis. However, fibrosis corresponded to length of denervation. The presence of highly atrophic muscle fibers even 36 years after denervation indicates that the final aim of facial nerve surgery, namely the reinnervation of denervated facial musculature may still be achievable. However, endomysial and perimysial fibrosis may have a considerable impact on the final outcome of such facial nerve surgery. Unsatisfactory correlation between morphological and clinical as well as electromyographical findings in denervated facial muscles requires individual morphological study of each biopsy to assess the probable outcome of reconstructive facial nerve surgery. It therefore appears reasonable even in long-standing facial paralysis, to biopsy denervated facial muscles before or during surgical reanastomosation of the facial nerve. This study provides hints that morphological examination of denervated facial muscles may supplement clinical, electrophysiological, and possibly biochemical diagnostic findings.

Adolescent↗
PubMed1984

"Killer" cells in Duchenne disease: ultrastructural study.

Two fetuses at risk for X-linked recessive Duchenne muscular dystrophy and five affected boys were examined by electronmicroscopy. In all cases, numerous activated lymphocytes were found in different stages of invasion in muscle cells. Characteristic aggressor-muscle cell interactions were manifest by successive phases of cell-to-cell adherence and muscle cell destruction. Cell-mediated cytolysis may play an important role in the pathogenesis of Duchenne muscular dystrophy.

Capillaries↗
PubMed1983

[Muscular carnitine-palmityl-transferase deficiency].

Deficiency in carnitine-palmityl-transferase (CPT) was demonstrated in a 20-year-old man with paroxysmal myoglobinuria, after failure to discover another cause. It is concluded that muscular CPT deficiency must be excluded before a recurrent myoglobinuria is classified as "idiopathic".

Acyltransferases↗
PubMed1983

A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions.

Clinical and morphological findings in five patients, three girls and two boys, afflicted with congenital muscular dystrophy (CMD) and cerebral lesions are reported. Four of these patients represented two pairs of siblings, and all patients had died in early infancy. Three of the patients had muscle hypotonia in early infancy, two siblings died with a necrotizing myopathy before neuromuscular symptoms became clinically apparent. Two siblings had intractable grand mal seizures, one other boy had polymicrogyria, and a single child had internal hydrocephalus. Muscle morphology in all patients was compatible with CMD, showing a necrotizing component in two male sibs. Electron microscopy of muscle only revealed non-specific ultrapathology. The association of CMD with cerebral lesions renders prognosis unfavourable. The data presented do not permit the delineation of a precise nosological form of cerebro-muscular disease but may comprise several entities. The association of CMD and cerebral lesions may often occur in families, apparently following an autosomal-recessive mode of inheritance. It may not be identical to the Fukuyama type of CMD, and it is definitely different from the "muscle, eye and brain disease" in Finnish children. It seems to be similar to CMD with cerebral lesions observed in non-Japanese siblings, but whether it is actually the same disease remains unclear. At least the association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.

Brain↗