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Biomedical subjects

H H Goebel

Publications and source records attributed to H H Goebel.

At least 253 records · Page 14Linked to original sources
PubMed1980

Congenital muscular dystrophies and unstructured congenital myopathies.

A satisfactory nosological classification of all congenital myopathies without structural characteristics is not yet available. The term "congenital dystrophy" does not describe one but at least three disease states, of which the Fukuyama type and the Ullrich type are entities defined by clinical and morphological criteria. Some patients with nonprogressive dystrophic changes may show marked abnormalities in size and distribution of fiber types. "Congenital fiber type disproportions" has been defined as a pattern with many small type I fibers and few large type II fibers. A similar pattern can be found in the rigid spine syndrome. Other abnormal histometric patterns (e.g. predominance of small and large type I fibers, type II fiber atrophy in combination with congestive cardiomyopathy) are not infrequently encountered. The application of a prefabricated diagnostic label should be reserved for cases fulfilling strictly defined morphological and clinical definitions. In the rest, objective description of findings may still be the only appropriate diagnostic approach.

Biopsy↗
PubMed1979

[Acute renal failure in alcoholic myopathy (author's transl)].

Two chronic alcoholics developed acute renal failure from alcoholic myopathy (acute alcohol-induced rhabdomyolysis). Severe muscle pain developed and was associated with transitory oligo-anuric renal failure, requiring dialysis in one patient. In addition to the typical history and clinical symptoms, excessive elevation of muscle enzymes, especially creatine-kinase, and the appearance of myoglobin in serum are characteristic. Brown discoloration of the urine and a falsely positive test for "blood" due to the presence of myoglobin in urine in the absence of red blood cells are also typical. Definite changes can be demonstrated histologically and electromyographically during the acute stage. It is likely that this condition is more frequent than the sparsity of published reports indicates.

Acute Kidney Injury↗
PubMed1979

The development of skeletal muscles in premature infants. I. Fibre size and histochemical differentiation.

Biopsies from various skeletal muscles were taken post mortem from infants with conceptional ages between 25 and 40 weeks. Cryostat sections were analysed quantitatively. The growth of the mean fibre diameter follows an exponential curve, which is mainly due to an initial predominance of type II-fibres. Before the 34th week of gestation only isolated large "Wohlfart"-fibres show type I staining characteristics. A great number of smaller type I-fibres appear suddenly around the 34th week. Their percentage of the total fibre population increases linearly to 40% at term. The development of the "tonic" type I-fibres correlates with certain aspects of gross motor development. The importance of normal data in the diagnosis of certain congenital myopathies is emphasized.

Biopsy↗
PubMed1979

Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V.

Pigment preparations of 800 micrometer thickness and Golgi studies of the isocortex in juvenile neuronal ceroid-lipofuscinosis, morphologically proven by electron microscopy, revealed: 1. giant axonal dilatations of IIIab-pyramids. These expansions exceeded by far those found in pyramidal cell axons of other isocortical layers. 2. severe numerical reduction of neurons in the ganglionic layer.

Adolescent↗
PubMed1979

Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B).

Two brothers, aged 40 and 38 years, suffered from dysplastic features, coarse facies, bone and skeletal abnormalities, deformities of spine, and joint impairments. Body heights were 168 and 164 cm, respectively. Enlargement of liver and spleen, cardiac insufficiency, marked corneal clouding, and hernias were absent. Both patients had signs of cervical and lumbar radiculopathy and cervical myelopathy (tetraspastic syndrome). Vacuoles, acid phosphatase-positive granules, and metachromatic inclusions were found in peripheral lymphocytes; granulocytes and monocytes contained azurophilic hypergranulation. By electron microscopy, clear membrane-bound vacuoles were noted in lymphocytes (but not in neurtrophils), fibroblasts, Schwann cells, mural cells of the vasculature, and epidermal cells. Leukocytes, urine, and cultured skin fibroblasts revealed a deficiency of arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase). The 6-year-old daughter of one of the patients has an intermediate level of this enzyme. Fibroblasts exhibited a constant intracellular accumulation of 35S-labeled mucopolysaccharides. The urine of one of the brothers showed an abnormal mucopolysacchariduria; in both, the presence of urinary dermatan sulfate could be demonstrated. These findings conform to the mild B variant of Maroteaux-Lamy syndrome with high longevity.

Adult↗
PubMed1979

Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis.

A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroid-lipofuscinosis is briefly discussed.

Ataxia↗
PubMed1979

The ultrastructural variability of non-specific lipopigments.

Abnormally structured lipofuscin granules found in various cell types of different conditions not related to the neuronal lipofuscinoses (NCL), emphasize the ultrastructural diversity of non-specific lipofuscin morphologically marked by paracristalline inclusions, pseudo-fingerprint enclosures, and stacks of parallel filaments, all of them embedded in the granular matrix of the lipopigments. Though lipofuscin consisting of the regular granulo-vacuolar ultrastructure was also present in many cells of the same tissues, our findings suggest differences, though of unknown biochemical nature, in lysosomal catabolism resulting in varying lipopigment structures within similar cellular compartments.

Child↗
PubMed1979

Schwannoma of the sellar region.

A 25-year-old woman who had experienced brief periods of loss of consciousness and grand mal seizures was found to have a midline mass in the sellar region as evidenced by computer tomography and angiography. Preoperatively, it was thought to be a meningioma but histologically and ultrastructurally it turned out to be a Schwannoma. Since cranial nerves were not involved, clinically or morphologically, this nerve sheath tumour could have originated from Schwann cells of sensory, possibly trigeminal, nerves, vasomotor nerves, or ectopic Schwann cells.

Adult↗
PubMed1979

On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis.

In 4 patients with neuronal ceroid-lipofuscinoses (NCL) (3 patients with the junvenile type, 1 patient with the late infantile type), the ultrastructural spectrum of residual bodies in the central and peripheral nervous system presented curvilinear profiles in all cases and regions investigated and many more ultrastructural patterns within and beyond regions commonly accessible to biopsy, probably due to age dependence, local tissue and cellular biochemical factors. Sampling from basal ganglia especially yielded combined curvilinear-fingerpint bodies, from peripheral ganglia additional membranous bodies. Residual bodies in NCL were present in almost every cell type, similar to the distribution of regular lipofuscin. Although the classical subgroups of NCL contain electronmicroscopically well defined residual bodies, permitting distinction of the late infantile type from the juvenile type, the ultrastructural differences are more of a quantitative than of a qualitative nature. However, they are not pathognomonic. N.m.r. spectra of ceroid and lipofuscin support the concept of their biochemical similarity, and argue against the proposition that they contain a single major component.

Brain↗
PubMed1979

Ultrastructural pathology of lymphocytes in neuronal ceroid-lipofuscinoses.

Lymphocytes were studied by electron microscopy in five cases of neuronal ceroid-lipofuscinoses (NCL), one of infantile, three of late infantile and one of juvenile types. Each type of NCL revealed specific cytoplasmic inclusions, namely, granular bodies in the infantile form, curvilinear profiles in the late infantile form and fingerprint profiles within vacuoles in the juvenile type. Survey of the literature also confirmed the high correlation between subtype of NCL and type of lymphocytic inclusion. The electron microscopic examination lymphocytes offers easily available diagnostic informations.

Brain Diseases, Metabolic↗
PubMed1978

Loss of pigment-laden stellate cells: a severe alteration of the isocortex in juvenile neuronal ceroid-lipofuscinosis.

Juvenile neuronal ceroid-lipofuscinosis is associated with a moderate numerical decrease of isocortical neurons. From Nissl preparations, it is not apparent, whether this neuronal rarefication occurs at random or affects specific types of cortical neurons. Lipopigment preparations facilitate the distinction between pyramidal and stellate cells. In juvenile neuronal ceroid-lipofuscinosis, they reveal an almost complete to total loss of small pigment-laden stellate cells. This type of local circuit neurons, scattered throughout the corpuscular and pyramidal layer in varying numbers and patterns of distribution, is common to all isocortical regions. Its pronounced and selective vulnerability in this lysosomal disease may be causally related to the marked functional impairment of the brain.

Adolescent↗
PubMed1978

The ultrastructure of the retina in adult metachromatic leukodystrophy.

A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.

Acid Phosphatase↗
PubMed1978

Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease).

The retina of a 9-month-old boy afflicted with biochemically proven type II glycogenosis contained abundant lysosomal glycogen. This was present in almost every cell type and occasionally associated with lipofuscin in choroidal macrophages. Lysosomal glycogen was absent from melanocytes and pigment epithelial cells. No degeneration of any cell layer was noted. The ubiquitous accretion of lysosomal glycogen resembles the widespread distribution of lipopigments in canine neural ceroid lipofuscinosis, another lysosomal disorder.

Glycogen↗
PubMed1978

Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies.

A brain biopsy from a 20-year-old patient whose clinical course was marked by progressive dementia and chorea since age 10 years showed increased amounts of lipofuscin, abnormal mitochondria, and other organelles in cortical neurons, neurites, and astrocytes. Juvenile Huntington chorea was confirmed at autopsy. High levels of three histone-like proteins (molecular weight 10,000 to 16,000) in the microsomal fraction of purified neurons were found by SDS-polyacrylamide gel electrophoresis. Fatty acids were abnormal in white matter sphingomyelin. These ultrastructural and biochemical findings conformed to those established in adult Huntington chorea, thus strengthening the concept of a uniform pathologic process in adult and juvenile Huntington diseases in spite of some clinical and histologic differences.

Adolescent↗
PubMed1978

Diagnostic significance of myeloperoxidase assay in neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome).

In 13 patients with morphologically established juvenile neuronal ceroid lipofuscinosis and 13 controls, the activity of leukocyte peroxidase (myeloperoxidase) was determined under various conditions: Measurement of water-soluble enzyme, the buffer-soluble enzyme, and the leukocyte homogenate; application of phosphate buffer (pH7.0) and borate buffer (pH7.6); employment of 9mM, 28mM, and 55mMp-phenylenediamine as hydrogen donor; and measurement of the specific enzyme extinction at 10, 60, and 180 seconds. A significant difference between mean values for patients and controls could not be established. In both groups, single individuals exhibited definitely increased or reduced enzyme concentrations, leaving us, however, without an adequate explanation for these observations. Our studies indicate that determination of myeloperoxidase has no value in establishing the diagnosis of neuronal ceroid-lipofuscinoses.

Adolescent↗
PubMed1978

[Progressive External Ophthalmoplegia (authors transl)].

The case of a 16-year-old boy with progressive external ophthalmoplegia ("Ophthalmoplegia plus") is reported. Clinical symptoms consisted of complete external ophthalmoplegia, ptosis, short stature, atrophy and weakness of skeletal muscles, and elevated csf protein. Abnormal mitochondria were found by electron microscopy in scattered atrophic fibres of the muscle biopsy. The syndrome and it's relevance for paediatric differential diagnosis is discussed.

Adolescent↗