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Biomedical subjects

H H Goebel

Publications and source records attributed to H H Goebel.

At least 217 records · Page 12Linked to original sources
PubMed1983

Isocortical pathology in type C Niemann-Pick disease. A combined Golgi-pigmentoarchitectonic study.

A case of Niemann-Pick disease was examined with Golgi preparations and a transparent Golgi impregnation counterstained for intraneuronal pigment deposits. There was a specific type of storage of unmetabolized substrate restricted to certain nerve cell types. The most conspicuous changes in the isocortex were: 1) dilated axonal segments in layer IIIab pyramidal cells filled with storage material; the volume of these axonal expansions often exceeded that of the soma; 2) distension of layer IIIc, layer V, and layer VIa pyramidal cell perikarya with storage material; 3) new formation, elongation, and vertical orientation of basal dendrites in layer V pyramidal cells; 4) well-preserved pyramidal cells almost devoid of storage material and generally small in size were frequently found in layers II and IV, and to a lesser extent in layers III, V, and VI; 5) severe numerical reduction of small pigment-laden stellate cells in layers II and III; and 6) reduction of stellate cells devoid of lipofuscin pigment. These cells only occasionally contained small amounts of storage material.

Adult↗
PubMed1983

Ultrastructural aspects of striated muscle fibers in health and disease.

The application of electron microscopy to skeletal muscle is pertinent to 1. cytological analysis of normal muscle fibers; 2. cytopathology of muscle fibers; 3. systematic ultrastructural analysis of classic muscle diseases; 4. ultrastructure of muscle fiber inclusions; 5. neuromuscular conditions classified by electron microscopy; 6. diagnosis of individual muscle biopsies.

Humans↗
PubMed1982

Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.

Ultrastructural examination of peripheral lymphocytes was performed in 28 cases of various lysosomal diseases, including infantile, late infantile and juvenile neuronal ceroid-lipofuscinoses (NCL), mucopolysaccharidoses (MPS), juvenile and adult metachromatic leukocystrophies (MLD), GM1-gangliosidosis, one patient with presumed mucolipidosis type IV, mucolipidosis type III, and glycogenosis type II. Based on our own observations on the ultrastructure of lymphocytes in lysosomal disorders, our results may be divided into the following 3 groups: 1. pathological findings with specific inclusions: each type of NCL, presumed mucolipidosis type IV, glycogenosis type II; 2 pathological findings with vacuoles: types I-H, II, III-A and III-B, IV, VI-A and VI-B of MPS, GM1-gangliosidosis; 3. apparently no pathological findings: juvenile and adult MLD, mucolipidosis type III, GM2-gangliosidosis, Gaucher disease. These results led us to conclude that morphological investigations utilizing lymphocytes do not always offer sufficient diagnostic information although easy accessibility favors diagnostic ultrastructural studies of lymphocytes. Such morphological studies should be supplemented by diagnostic biochemical methods.

Ceroid↗
PubMed1982

Congenital muscular dystrophy (CMD) - a collagen formative disease?

Muscle biopsies of 5 patients with congenital muscular dystrophy (CMD) (8 months to 3 years old) were examined by electron microscopy to determine ultrastructural abnormalities of the muscle as well as of the connective tissue cells. Two populations of muscle fibers were observed in each biopsy. Besides muscle fibers with normal or enlarged diameters there were frequently very small muscle cells indicating immaturity. The most interesting findings in each biopsy were myofibroblast-like cells exhibiting active protein synthesis. Large amounts of collagen fibrils with abnormal diameters as well as accumulation of elastic fibrils within the endomysium in CMD suggest abnormalities in collagen synthesis.

Biopsy↗
PubMed1982

Ultrastructure and visceral distribution of lipopigments in infantile neuronal ceroid-lipofuscinosis.

After an uneventful psychomotor development, a Jordanian boy developed increasing blindness, deafness, myoclonic jerks, tetraspasticity and dementia beginning at the age of 8 months and finally resulting in coma during which he died at the age of 3 years and 4 months. Two of his older siblings had possibly suffered from the same disease, but one of them had died in the Near East without adequate diagnosis. Autopsy revealed infantile neuronal ceroid-lipofuscinosis (NCL). Lipopigments showing typical autofluorescence and PAS staining granules were abundant in the markedly atrophic brain and numerous visceral organs, especially in cells of the reticulo-endothelial system, intestinal tunica propria, the bone marrow and hepatic von Kupffer cells. Ubiquitous accumulation of these NCL-typical lipopigments were found in adventitial mesenchymal cells of small vessels, particularly in lungs, liver and lymphatic organs. Lipopigments had accreted to a lesser degree in podocytes of renal glomerula and Sertoli cells, and in striated muscle fibers only around nuclei. Lymphocytes, smooth muscle cells and stratified epithelial cells did not contain lipopigments. The ultrastructure of the membrane-surrounded osmiophilic cytosomes consisted predominantly of finely granular lipofuscin although short membranous profiles were occasionally embedded within this granular matrix. These morphological findings emphasize the diagnostic importance of lymph node, rectal and bone marrow biopsies and, to a lesser degree, of liver biopsy in infantile neuronal ceroid-lipofuscinosis. The nosology of infantile NCL, independent of the ethnic background, was further clarified by our studies on ultrastructure and visceral distribution of these lipopigments. Morphological damage to parenchymal cells of visceral organs, contrary to the widespread loss of cortical neurons in the brain could not be demonstrated.

Bone Marrow↗
PubMed1982

The forearm ischaemic work test--hazardous to McArdle patients?

A 57-year-old patient suffering from late-onset McArdle's disease developed myoglobinaemia, massive myoglobinuria and marked serum creatine kinase elevation subsequent to a routinely performed forearm ischaemic work test. Twenty hours after the test, enhancement of 99mTc methylene-diphosphonate activity was demonstrated exclusively in the tested forearm. It is concluded that the forearm ischaemic work test is potentially hazardous to McArdle patients, as it might induce myoglobinuria sufficient to result in acute myoglobinuric renal failure.

Exercise Test↗
PubMed1982

Enzyme histochemical and histographic data on normal human facial muscles.

Four human facial muscles, platysma, m. levator labii, zygomaticus major and orbicularis oris, obtained during head and neck surgery, revealed no qualitative differences from normal human limb muscles, but differences with regard to fiber type distribution and fiber size. Mean fiber diameters of each muscle studied were largely 50% of those encountered in normal human limb muscles. Histographic analysis revealed that type II fibers were more frequent than type I fibers but that type IIB fibers were extremely scarce in number. The myofiber diameter spectrum was also larger in facial than in limb muscles, as myofibers produced variability coefficients around 325. The frequent presence of intramuscular nerve twigs and motor endplates may provide the opportunity of studying pre- and postsynaptic pathology in future studies of denervated facial muscles.

Adolescent↗
PubMed1982

Morphologic and chemical biopsy findings in mucolipidosis IV.

Based on typical clinical and morphologic features, biopsy findings in an 18-year-old girl afflicted with mucolipidosis IV are reported. She had had corneal clouding since early childhood, psychomotor retardation resulting in severe mental impairment, and pigmentary retinopathy. Biopsies of skeletal muscle, rectum, skin, and lymphocytes revealed by light microscopy increased activity of acid phosphatase and by electron microscopy, membranous and vacuolar lysosomal residual bodies in numerous cells, including striated muscle fibers and lymphocytes. An unidentified lipid was encountered by means of thin-layer chromatography in the muscle biopsy. Thus, skeletal muscle, rectum, skin, and lymphocytes are equally suitable for in vivo morphologic diagnosis of mucolipidosis IV.

Adolescent↗
PubMed1982

Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL).

This report concerns morphologic findings in two middle-aged women, who died of sporadic adult neuronal ceroid-lipofuscinosis (NCL) and whose brains were studied histologically, by electron microscopy and by pigmentoarchitectonic techniques. In addition, the brain of a 35-year-old woman, who died of familial protracted juvenile NCL, was also investigated using pigmentoarchitectonic methods. Clinical, light and electron microscopic findings were compatible with the above-mentioned diagnosis. Pigmentoarchitectural analysis of homotypical isocortex in these three brains revealed (1) loss of pigment-laden stellate cells in layer II, (2) axonal enlargements of layer IIIab-pyramidal cells, and (3) considerable cell loss in layer Va. The changes were more pronounced in the brain affected by protracted juvenile NCL than in the two brains affected by adult NCL. The study emphasizes the value of the pigmentoarchitectonic technique, both in diagnostic neuropathology and in ascertaining patients afflicted with adult NCL. The ultrastructure of the lipopigments showed a motley spectrum of membrane formation such as curvilinear, fingerprint, or straight membranes and was less granular than regular senile lipofuscin.

Adult↗
PubMed1981

Increased ammonia production during forearm ischemic work test in McArdle's disease.

A patient with typical features of late onset McArdle's disease is described. During forearm ischemic work test the patient exhibited an exaggerated increase in ammonia release, largely exceeding normal values. It is suggested, that this is due to an activation of the myokinase/myoadenylate deaminase pathway. Besides lack of lactate release increased ammonia release during ischemia may be a typical feature of McArdle's disease.

Ammonia↗