Biomedical subjects
Publications and source records attributed to J Bohl.
Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.
A 41-year-old vintner attempting suicide ingested 8-9 g of arsenic and developed a symmetric polyneuropathy with acute Wallerian degeneration of myelinated fibers. Under treatment with modified British Anti-Lewisite (BAL; "Dimaval") his polyneuropathy slowly, but incompletely, subsided over three years at which time another sural nerve biopsy specimen showed regenerative proliferation of myelinated and unmyelinated axons but no signs of Wallerian degeneration. By laser microprobe mass analysis (LAMMA) arsenic was located in the first biopsied sural nerve specimen but not in the second specimen. These findings demonstrated: 1) arsenic induced serial morphometric and electron microscopic findings of nerve fiber degeneration and regeneration, 2) documentation of arsenic within myelinated nerve fibers, and 3) the usefulness of the LAMMA technique as a diagnostic procedure in this context.
Three children who presented with two rare conditions, nephrogenic diabetes insipidus and intracerebral calcification, were studied. The lack of evidence for the presence of a metabolic defect other than nephrogenic diabetes insipidus suggests that it can lead to the development of intracerebral calcification. Perhaps the main risk factor is inadequate fluid intake during early infancy.
An 11-year-old girl was found to have severely reduced beta-galactocerebrosidase activity as evidence of late-onset globoid cell leukodystrophy, while her mother had almost normal enzyme activity in circulating white blood cells. Clinically, the patient showed a remitting course marked by seizures, ataxia, white-matter disease on computed tomographic scan, and reduced conduction velocities of peripheral nerves. Symptoms improved somewhat around the age of 10 years. Two sural nerve biopsies, performed 6 years apart, disclosed a demyelinating neuropathy. By electron microscopy, membrane-bound vacuolar lysosomes in Schwann cells of myelinated axons, unlike the typical needlelike inclusions seen in classic infantile globoid cell leukodystrophy, were present in both specimens. Thus, clinical, morphologic, and biochemical data in this patient--and her mother--emphasize, compared with past reports on late-onset globoid cell leukodystrophy, considerable variation in the nosologic spectrum of late-onset globoid cell leukodystrophy and conspicuous differences from classic infantile globoid cell leukodystrophy.
Formation of amyloid within peripheral nerves, resulting in amyloid-related neuropathies, may occur when myeloma-associated amyloid (AL) is deposited in an immune-related neuropathy or in familial amyloid polyneuropathy where prealbumin/transthyretin variants are marked by AF amyloid deposition. Refined histochemical and recent immunohistochemical techniques identify the correct type of amyloid and thus the nosologically precise form of amyloid-related neuropathy. Neuropathy is an inherent thought not obligate clinical and morphological component in two of the three systemic amyloidoses. Multiple causative factors in adult forms of neuropathy render a search for amyloid mandatory whenever respective biopsied nerve specimens are examined.
We report the rare case of a term newborn with an excessively large congenital, intracranial teratoma expanding into the right orbita and maxilla. The main symptoms were a total unilateral exophthalmos, a tumorous mass in the right cheek, macrocephaly with wide sutures, and a bulging fontanel. The diagnosis was confirmed by sonography, computed tomography and an exploratory excision from the retromaxillary region.
Isocortical amyloid deposits and neurofibrillary changes were studied using selective silver staining methods. Amyloid was found in plaque-like formations varying in size and shape. The distribution pattern of these plaques as seen in the silver-stained preparations was identical to that recognized by A4 protein (amyloid) immunostaining. Consecutive sections stained for amyloid and neurofibrillary changes revealed the absence of intraneuronal cytoskeleton abnormalities within the boundaries of many of the amyloid plaques. Congo red preparations did not show these plaques and the tissue within the range of the plaques did not reveal any conspicuous neuropil distortions and/or glial cell accumulations. Hence, a considerable proportion of the amyloid plaques do not correspond to and should carefully be distinguished from 'primitive', 'mature', and 'burned out' types of neuritic (senile) plaques.
Specific silver impregnation techniques for extracellular amyloid and intraneuronal neurofibrillary changes were used to examine the presubiculum in Alzheimer victims. Extended amyloid clouds in the absence of neurofibrillary changes were noted in the parvopyramidal layer of the presubiculum proper. The corresponding layer in the parasubiculum, in contrast, showed many neurofibrillary tangles and neuropil threads in the absence of amyloid. The transsubicular parvopyramidal layer contained both amyloid deposits and neurofibrillary changes. This severe involvement of all subdivisions of the presubicular region in Alzheimer's disease is considered to impair functions of the Papez circuit.
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So far, the law in the Federal Republic of Germany still allows the injection of fresh-cell preparations from animals as a roborant to increase the vitality of the organism and to strengthen the body's immune defense system. The use of "sicca-cell" preparations was provisionally forbidden in 1987 by the Federal Health Organization (Bundesgesundheitsamt; BGA). Prohibition of fresh-cell injections would have exceeded the authority of this office, although the same serious reservations also applied in the case of this treatment method. Several publications that have appeared since 1955 have reported serious complications of this therapy, some life-threatening and some even lethal. Two further cases are now added: (1) A woman aged 69 had been receiving treatment with cell injections for 9 years. Immediately after an injection of sicca cells she collapsed and was hospitalized; 7 days thereafter she developed an ascending paralysis with increasing inability to swallow or breathe. She died 25 days after the injection as a consequence of central and peripheral respiratory failure. Autopsy revealed the alterations typical for acute Landry-Guillain-Barré-Strohl syndrome. (2) A 76-year-old healthy woman had been receiving treatment with fresh-cell preparations for several years. After an injection of cell suspensions a painful local swelling was observed. The symptoms were interpreted as the consequence of an iatrogenic local hematoma, and repeated punctures were performed to obtain blood. The patient was transferred to a surgical department for further therapy. Two days after the injection she suddenly died with signs of acute cardiovascular failure. Autopsy revealed the signs of a fulminating clostridial infection and also the characteristic signs of Landry-Guillain-Barré syndrome with involvement of the autonomic nervous system. In both cases the development of an inflammatory process in the peripheral nervous system could be interpreted as an immune-mediated allergic disease, related to the repeated injection of heterologous antigenic material containing nervous tissues. This hypothesis would also explain the two other cases already published and would be consistent with the observed perivenous leukoencephalopathy of the central nervous system. The human disease pictures correspond to the well-established animal models of EAEM (experimental allergic encephalomyelitis) and EAN (experimental allergic neuritis). The pathogenesis is discussed; the major role of the central and peripheral nervous system is stressed, with special reference to the risk of acute autonomic failure. The need for specific autopsy techniques for the investigation of the entire nervous system, including spinal cord, roots, spinal ganglia and peripheral nerves with sympathetic chains, is raised.
Two specific silver-staining methods demonstrating either extracellular amyloid and/or precursors of amyloid or intraneuronal neurofibrillary changes were used to examine cerebellar pathology in cases of presenile and senile dementia of the Alzheimer type, cases of Down's syndrome, and non-demented controls. The sensitivity of the techniques permitted visualization of large numbers of amyloid deposits in the cerebellar cortex of demented individuals. Similarly large numbers of amyloid deposits were not found in the cerebella of non-demented individuals. Neurofibrillary changes were absent. The majority of amyloid plaques occurred in the molecular layer. Quite a number of these displayed large diameters extending from the upper surface down to the Purkinje cell layer. Within the granular layer and white matter the plaques were less frequently encountered and they were less voluminous than those of the molecular layer. The cerebellar amyloid plaques were morphologically different and could easily be distinguished from the cerebellar plaques found in transmissible spongiform encephalopathies.
The basal as well as the stimulated activity of the adenylate cyclase was determined in postmortem hippocampi. The tissue probes were obtained from 12 demented individuals (10 Alzheimer-type dementia; 1 Down's syndrome; 1 argyrophilic grains syndrome) and from 15 age-matched controls. The diagnoses were done in accordance with histopathological criteria. Adenylate cyclase was stimulated by isoprenaline, Gpp(NH)p, or forskolin. The amount of cAMP formed was determined by the protein binding method using a radioimmuno assay. In tissues of controls as well as of demented patients adenylate cyclase was stimulated in the rank order of isoprenaline less than Gpp (NH) p less than forskolin. In hippocampal tissues of demented individuals a significant reduction (50%, p less than 0.01) in basal as well as stimulated adenylate cyclase activity was found. This reduction in cAMP signal transduction is not caused by simple cell loss.
The list of human amyloidoses contains at least ten different types that might be differentiated on account of their pattern of distribution (localized or generalized), on the basis of their underlying diseases and above all on account of their different amyloidogenic proteins. According to WRIGHT it was already possible to differentiate two types of amyloid by pretreating the histologic tissue sections with KMnO4 before staining them with Congored. But now nearly all different types of amyloid can be determined immunohistologically by means of specific antibodies. In the human brain and in its coverings we found as well localized as generalized amyloidoses. The most frequent localized amyloidosis is the cerebral amyloidosis in Alzheimer's disease, in senile dementia of the Alzheimer type and in "normal" aging (type ASb). The endocrine type of amyloid could be detected in the anterior pituitary lobe of old people and sometimes in adenomas of the pituitary gland (type AE). In cases of generalized amyloidosis (e.g. amyloid type AA, type AF or type AL) the intracranial amyloid deposits or precipitations are only found in those regions where the blood brain barrier is insufficient. These regions are --choroid plexus --infundibulum (hypothalamus) --pineal gland (epiphysis) --area postrema --circumventricular organs --ganglion Gasseri and --dura mater. The other parts of the CNS (the leptomeninges, cortical grey matter, subcortical white matter and basal ganglia) are always free of amyloid in these cases of generalized amyloidosis. In cases of cerebral amyloidosis (type ASb) the typical berefringent Congored deposits are found in the leptomeninges and in cortical and subcortical grey matter; white matter and all other regions are always free of amyloid. We observed several cases with more than one type of amyloidosis: e.g. a generalized form and a second local amyloidosis, two generalized forms (AA and A beta 2M) or even several localized types (ASb, AE). By paying attention to the typical distribution pattern of the amyloid deposits in the CNS and its coverings and by using specific antibodies it is now possible to distinguish between two different amyloidoses even in the same body region, e.g. in the human brain.
Previous studies on sural nerves were extended to human femoral, ulnar, facial and trochlear nerves. As asynchronous development of axon diameter and myelin sheath thickness was noted in all nerves studied. Whereas axons reach their maximal diameter by or before 5 years of age, maximal myelin sheath thickness is not attained before 16-17 years of age, i.e., more than 10 years later. The slope of the regression lines for the ratio between axon diameter and myelin thickness is significantly steeper in older than in younger individuals; it also differs if small and large fibers with more or less than 50 myelin lamellae are evaluated separately. The number of Schmidt-Lanterman incisures during later stages of development is related to myelin thickness, but the length of the spiral of the myelin lamella, thought to unrolled, in relation to its width, i.e., internodal length, varies considerably during development. The changes of the relationship between axons and myelin sheath thickness during normal human development have to be taken into account if hypomyelination is considered as a significant pathological phenomenon in peripheral neuropathies, especially in children. The implications of the present findings concerning conduction velocity of peripheral nerve fibers and other electrophysiologic parameters are discussed.
A method is described in which selective silver staining of Alzheimer's neurofibrillary changes is combined with staining of cell nuclei, Nissl material, and lipofuscin granules. Formalin fixed, paraffin embedded sections of human autopsy tissue are silver stained according to a method proposed by Gallyas. Lipofuscin is stained by crotonaldehyde fuchsin following performic acid oxidation. Nissl substance is visualized by either Darrow red or gallocyanin-chrome alum staining. Architectonic units showing the specific pathology and the neuronal types prone to develop the neurofibrillary changes can be recognized using this technique.
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Physiotherapeutic follow-up treatment is required only in exceptional cases of fractures in childhood. Physiotherapeutic indications are justified for fractures with months of immobilisation, multiple fractures, fractures accompanied by soft-tissue defects and nerve injuries, vertebral fractures, fractures and craniocerebral trauma, and fractures entailing the risk of bone necrosis. Passive exercises are not at all indicated.