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Biomedical subjects

H H Goebel

Publications and source records attributed to H H Goebel.

At least 271 records · Page 15Linked to original sources
PubMed1977

Muscle capillary basement membrane thickness in lipoatrophic diabetes.

A 21 years old female patient with lipoatrophic diabetes, a distinct syndrome of insulin resistant diabetes mellitus, loss of subcutaneous fat, hepatosplenomegaly, hyperlipidemia, increased basal metabolic rate, subvalvular aortic stenosis and cystic bone lesions is described. She exhibited all clinical signs of diabetic microangiopathy. Quantitative estimation revealed severely thickened basement membranes of muscle capillaries. It is concluded that the extent of her microangiopathy is a consequence of her excessive metabolic abnormalities.

Adult↗
PubMed1977

[Ultrastructure of neuronal ceroid-lipofuscinoses].

The ultrastructure of autofluorescent residual bodies in the Jansky-Bielschowsky and Spielmeyer-Sjögren types of neuronal ceroid-lipofuscinoses (NCL) is variegated though the curvilinear profiles encompass the basic pattern. The infantile and Kufs' types are marked by granular cytosomes. Deposition of the lipopigments in NCL simulates the distribution of "wear and tear" lipofuscin enabling diagnosis by biopsy and electron microscopy in peripheral organs such as skin, rectum, and especially striated muscle. Pathological findings in the retina of the associated retinopathia pigmentosa entail typical NCL residual bodies in almost every type of retinal cells, a loss of photoreceptors, atrophy of pigment epithelial cells and displacement of melanin into inner layers of the retina. This retinopathia pigmentosa seems to be a regular finding of only the classic late infantile and juvenile human types of NCL since it is mostly absent in the adult human type and the canine NCL. As long as an enzyme deficiency of this autosomal recessive disorder remains unproven, the clinical diagnosis of NCL can only be morphologically confirmed by electron microscopy.

Benzopyrans↗
PubMed1977

[Muscle biopsy (author's transl)].

Modern morphological diagnostic methods for neuromuscular diseases are based on enzyme histological and electron microscopic techniques. By enzyme histochemical differentiation of fiber types, early morphological changes such as Type I atrophy in myotonic dystrophy, or particular disease forms like Type II atrophy or congenital fiber type disproportion and other congenital myopathies associated with a Type I atrophy may be detected. The ultrastructural characteristics and the fine structure of autofluorescent lipopigments rich in phosphatases in the skeletal muscle fiber permit appropriate diagnosis of the individual types of congenital myopathy or neuronal ceroid lipofuscinosis.

Acid Phosphatase↗
PubMed1977

An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis.

A 7 1/2-year-old boy died of the Jansky-Bielschowsky type of neuronal ceroidlipofuscinosis. Although an electroretinogram showed reduced activity, pigmentary retinal atrophy was not demonstrable by ophthalmoscopy two years before death. At autopsy, the retina had severe loss of photoreceptor cells, pigment displacement, gliosis, and uniformly structured lipopigment bodies with an internal structure of curvilinear profiles in ganglionic and Müller cells, in pigment epithelia, in the remaining photoreceptors, and in the elements of the inner nuclear layer. These findings conformed to those in the juvenile type of neuronal ceroid-lipofuscinosis, differing only as to the severity.

Child↗
PubMed1977

Smooth muscle involvement in congenital myotonic dystrophy.

Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in patients with the congenital form of the disease. Of two brothers, the younger one presented with the typical features of congenital myotonic dystrophy at birth. He developed severe constipation due to megacolon during his second year of life. In the older brother disturbances of gastrointestinal motility, causing repeated bouts of subileus during the newborn period, sprue-like symptoms during early childhood, and megacolon with constipation and incontinence later on, remained the only manifestation of myotonic dystrophy until the age of eight years when the diagnosis could be finally established by electromyography.

Child↗
PubMed1977

The unusual features of traumatic neurogenic muscular atrophy in the infant: an anatomic study.

A biopsy from the deltoid muscle of an 8-week old girl who had sustained a bilateral traumatic Erb's brachial plexus paresis at birth revealed the neurogenic atrophy to be different from that of adult muscle in that small, round fibers, similar to those observed in Werdnig-Hoffmann disease, were found. Detailed histochemistry of the fibers is submitted. On electron microscopy, there was focal degeneration of sarcomeres; a loss of myofibrils and myofilaments accompanied by increased autophagocytosis and increased amounts of glycogen; occasionally, preferential drop out of thick myofilaments and a peculiar displacement and deformation of the T-system, triads. In spite of the fact that the injury was sustained at one well defined point of time, the degree to which the muscle fibers were affected was quite variable from area to area. It is proposed that denervation in infantile muscle results in typical small rounded fibers and that this process, so different from that of adult neurogenic atrophy, is age-dependent.

Arm↗
PubMed1977

Fibre type disproportion in the rigid spine syndrome.

An adolescent presented with the clinical symptomatology of the rigid spine syndrome. Whereas an earlier biopsy from the M. erector trunci showed myopathic features and marked endomysial fibrosis, recent findings in the M. biceps consisted of type I-fibre atrophy, type I-fibre predominance, and hypertrophy of type II-fibres. The significance of these findings and possibly a relationship to congenital fibre type disproportion are discussed.

Adolescent↗
PubMed1977

Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.

In a 13-year-old neurologically healthy boy from a family with adult-onset of metachromatic leukodystrophy (MLD) showing arylsulfatase A-deficiency in the adult, sural nerve biopsy probably was performed 2-3 decades before clinical manifestation of the disease could be expected. Ultrastructurally 4 basic types of inclusion bodies in Schwann cells could be demonstrated (pleo-morphic "zebra body"-like inclusions, double-lamellated inclusions, "tuff-stone"-like inclusions, granular osmiophilic inclusions). Additionally, endoplasmatic reticulum, mitochondria and lysosomes showed marked alterations. Advanced damage of myelin was only rarely seen, but initial segmental demyelination was a common finding. These early pathological changes in chronic MLD are thought to represent a subcellular metabolic insufficiency of Schwann cells in this disease.

Adolescent↗
PubMed1977

Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state.

In a 5-year follow-up of a case of adult metachromatic leukodystrophy, already diagnosed in the preclinical stage, the development of the symptoms of this disease could be studied in detail: initially, lack of drive, emotional lability and depressive mood. At the same time, pain in the arms and beginning gait disturbance. Later, impairment of memory and concentration, disorientation, inadequate behavior and progression of gait disturbance. Finally spastic atactic gait with small steps and dyspractic components, coordination disturbances with writing dysfunction, fast dysarthric speech, hyperkinetic activity, compulsory emotional outbursts and progressive dementia. Only minor neurological signs such as reflex abnormalities. In the EEG, slight slowing of frequencies compared to earlier tracings. Increasing diminution of nerve conduction velocity in the lower limbs. Only minor increase of CSF protein (51 mg%). In spite of normal vision, evoked visual potentials abnormal, response of optical and electrical blink reflexes delayed. Imperfect filling of gallbladder. No significant quantitative changes of the biochemical parameters compared with the findings made 5 years earlier (excretion of urinary sulfatides, diminished activity of arylfulfatase A in urine and leukocytes).

Adult↗
PubMed1977

Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.

Sural nerve biopsy in a 44-year-old woman with adult metachromatic leukodystrophy (MLD) confirmed by deficient arylsulfatase-A activity, showed a reduction in the number of large and small myelinated axons, and sparse metachromatic material. Ultrastructurally, the latter consisted of various types of residual bodies including the tufaceous and prismatic forms typical of MLD. In the striated muscle, large amounts of regular lipofuscin but no MLD-characteristic inclusions were encountered. Inclusion-bearing mitochondria in the muscle appeared to be an incidental finding.

Adult↗
PubMed1977

[Unstructured congenital myopathies (author's transl)].

Nonprogressive congenital myopathies are usually classified according to structural or ultrastructural changes in the muscle fibres. In our material cases without specific structural characteristics but with an abnormal distribution and size of one fibre type, and dystrophic changes with or without fibre type changes are far more numerous. 15 cases are reviewed: Congenital dystrophy (4 cases); congenital dystrophy with complete lack of type II fibres [1]; fibre type disproportion with predominance of abnormally small type I fibres [5]; fibre type disproportion with predominance of small and large type I fibres and rare small type II fibres (1); type II hypotrophy with cardiomyopathy [3]; type II hypotrophy without cardiac or cerebral abnormalities [1]. Ultrastructural investigation shows unspecific changes mainly of myofilaments. The EMG is "myopathic" with normal interference pattern and short polyphasic unit potentials.

Action Potentials↗
PubMed1976

The protracted form of juvenile neuronal ceroid-lipofuscinosis.

Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.

Adult↗
PubMed1976

Ultrastructural investigations of peripheral nerves in neuronal ceroid-lipofuscinoses (NCL).

Specimens of brachial plexus, sural nerve and two cranial nerves of one patient with Jansky-Bielschowsky type and 3 patients with the Spielmeyer-Sjögren type of NCL were studied by electron microscopy. Significant light microscopic changes were absent in all specimens. Ultrastructurally, curvilinear and/or fingerprint inclusions were present in each case, located chiefly in Schwann cells. These diagnostic findings were, however, overshadowed by masses of lamellar pi-granule-like cytosomes, usually not mixed with curvilinear or finger-print profiles in the juvenile cases and only rarely associated with curvilinear profiles in the late infantile case. Since secondary changes of axons and myelin sheaths were mild, these lamellar cytosomes might indicate chronic damage to Schwann cells, perhaps by "wear and tear" as seen in aging as well as NCL. On account of the abundance of pi-granules in NCL, peripheral nerve biopsy appears less suitable for confirming this diagnosis than biopsy of skin, striated muscle and rectal tissue.

Humans↗
PubMed1976

Dense core mitochondria in peripheral ganglia of man.

Neuronal perikarye of peripheral ganglia contained unusual dense core mitochondria that were not seen in other cell types or tissues of the same individual. They were found in several patients autopsied with GM1-gangliosidosis and neuronal ceroid-lipofuscinosis. Previous observations on human sympathetic ganglia, obtained by biopsy, and our findings suggest that these dense core mitochondria might represent a rare but regular feature of neuronal perikarya in peripheral ganglia of man.

Adolescent↗
PubMed1976

Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease.

A five-year-old girl developed neurogenic muscular atrophy during infancy. On the basis of clinical findings and a muscle biopsy study a diagnosis of infantile spinal muscular atrophy, benign type II, was entertained. As the disease progressed, involvement of sensory pathways was detected by electrophysiological studies. Examination of a sural nerve specimen suggested a chronic polyneuropathy rather than spinal muscular atrophy. These findings were confirmed at autopsy by demonstrating severe loss of myelinated axons in ventral and dorsal spinal roots, peripheral nerves and dorsal columns of the spinal cord. In addition, islands of astroglial fibers were found in ventral and dorsal spinal roots, regarded as a secondary reaction to the breakdown of myelinated axons. This unusual scarring process seems to result from nerve fiber loss during the perinatal period, since radicular glial scar tissue is not known to occur in the spinal muscular atrophies of later onset. Examination of the sensory nervous system in patients with Werdnig-Hoffmann disease appears mandatory to clarify the precise disease entity leading to infantile neurogenic muscular atrophy.

Child, Preschool↗
PubMed1976

Isoelectric enzyme patterns of leukocyte peroxidase in normal controls and patients with neuronal ceroid-lipofuscinoses.

Using macro- and microanalytical isoelectric focussing techniques for separation of the soluble leukocytic peroxidase (hydrogen donor: p-phenylenediamine) we found 4 main isoenzyme components with pI at 9.6 (9.0), 7.6 (7.5), 6.2 (6.2) and 4.2 (4.7), which exhibited additional heterogeneities. The isoenzymes of the membrane-bound peroxidase displayed a similar pattern. The isoelectric subfractions of peroxidase in controls and patients with late-infantile (Jansky-Bielschowsky), juvenile (Spielmeyer-Sjögren) and adult (Kufs) types of neuronal ceroid-lipofuscinosis did not reveal any significant differences. Based on these findings, a deficiency of an isoenzyme component cannot be held responsible for producing neuronal ceroid-lipofuscinoses, neither in patients with normal nor in patients with reduced total activity of leukocyte peroxidase.

Adolescent↗
PubMed1975

Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.

Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for the diagnosis of these disorders by biopsy.

Adolescent↗