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Biomedical subjects

C Moll

Publications and source records attributed to C Moll.

At least 37 records · Page 2Linked to original sources

[Alcoholic pellagra encephalopathy: an underestimated treatable entity].

Alcoholic pellagra-encephalopathy is an underestimated entity, which is characterized by alteration in the level and content of consciousness, marked oppositional hypertonus and myoclonus. This entity should be included in the differential diagnosis of encephalopathy in ethanol abusers. The spontaneous course is potentially lethal. Therapy consists of substitution of nicotinic acid in the form of nicotinamide. It is emphasized that any chronic ethanol abuser with neurological symptoms should receive substitution of all B-group vitamins including nicotinamide.

Alcoholism↗

Primary leiomyosarcoma of bone: report of eight cases.

Eight primary leiomyosarcomas of bone were registered in the files of the Basel Bone Tumor Reference Center, Basel, Switzerland, for the period 1972 to 1990. The mean age of the patients (six males and two females) was 43.7 years (range, 11 to 87 years). The tumors were located in the long bones, the fingers, and the clavicle, and presented radiologically mainly as slightly to moderately aggressive lesions (grades IB to II according to Lodwick). They reacted immunohistochemically with antibodies against alpha-smooth muscle actin (alpha-SMA), and total muscle actins (eight of eight), vimentin (seven of eight), desmin (three of eight), keratin (four of eight), type IV collagen (six of eight), laminin (five of eight), and S-100 (one of eight). Seven patients underwent surgery (five, resection; two, amputation). Some of them had received preoperative or adjuvant chemotherapy or radiation therapy. One patient with a metastasized tumor had received chemotherapy only. Tumor recurrences were observed in two cases. Four patients developed metastases of whom two were treated with chemotherapy or tumor resection. During a follow-up period of 1 to 72 months (mean, 46.5 months) four of the eight patients survived for up to 72 months, among them the only patient with grade 3 tumor and treated metastases.

Actins↗

Inflammatory pseudotumors of the skull base.

Inflammatory pseudotumor is a rare affliction of the skull base with a propensity for locally aggressive growth. Frequently, the location of involvement does not lend itself to conventional biopsy techniques, resulting in diagnostic and treatment dilemma. A retrospective review of three unusual cases of skull base inflammatory pseudotumors is reported. These lesions illustrate the difficulty of management by virtue of their histopathology and behavior. They are clinically and radiographically indistinguishable from invasive neoplasms. One involved the petrous apex with bony erosion; a second case presented with pain and trigeminal paresthesia secondary to an infiltrative lesion in the clivus and the sphenoid sinus; and the third case involved peritubal soft tissues of the infratemporal fossa, with mandibular paresthesia and middle ear effusion. All three lesions were resected via lateral skull base approaches with no evidence of recurrence. Because of the inherent nature of this lesion and its rarity, inflammatory pseudotumor should remain a diagnosis of exclusion. When suspected, surgical approaches should be designed to allow complete extirpation with limited morbidity.

Journal Article↗

[Mixed cryoglobulinemia and vasculitic neuromyopathy].

Over a period of 25 years, a 67-year-old man again and again developed purpura over the lower legs. When hospitalized because of splenomegaly with thrombocytopenia the diagnosis of idiopathic thrombocytopenic purpura was made. Four years later, after an infection of the upper respiratory tract, purpura again developed, together with a symmetrical sensory-motor polyneuropathy with flaccid paraparesis. Biopsy of the N. suralis revealed a florid leukocytoclastic vasculitis. Morphologically there was severe nerve damage with Wallerian degeneration and subtotal nerve fibre loss. Immunological tests demonstrated essential mixed cryoglobulinaemia of IgG/IgM type. Cryoprecipitates must be considered as the cause of the vasculitis, which in turn produced the nerve lesions and purpura. This case underlines the importance of biopsy diagnosis of peripheral nerve and skeletal muscle, because it may demonstrate a treatable cause of a severe acute neuromyopathy.

Aged↗

Cloning of a putative glutamate receptor: a low affinity kainate-binding subunit.

Kainate, a glutamate receptor agonist, is a potent neuroexcitatory agent that produces epileptiform activity and selective neuronal degeneration. Binding studies using neuronal membrane homogenates or brain sections have identified sites having either high or low affinity for [3H]kainate. Here we report the cloning of a gene, GluR7, with approximately 75% sequence identity with the previously cloned GluR5 and GluR6 subunit genes. Transcripts of the GluR7 gene are evident in brain areas that bind [3H]kainate and are susceptible to kainate-induced neurotoxicity. We have performed ligand binding studies with membranes of transfected HeLa cells expressing GluR6 or GluR7 subunits. Our data show that the GluR6 and GluR7 subunits have a rank order of agonist affinity (domoate greater than kainate much greater than L-glutamate, quisqualate much greater than AMPA, NMDA) and a dissociation constant for kainate (95 and 77 nM, respectively) characteristic of the low affinity kainate-binding sites described in the brain.

Amino Acid Sequence↗

Increase of sodium channels in demyelinated lesions of multiple sclerosis.

Redistribution of sodium channels along demyelinated pathways in multiple sclerosis (MS) could be an important event in restoring conduction prior to other reparative mechanisms such as remyelination. Sodium channels in human multiple sclerosis lesions were identified by quantitative light microscopic autoradiography using tritiated saxitoxin (STX), a highly specific sodium channel ligand. Demyelinated areas in various central nervous system regions containing denuded but vital axons exhibited a high increase of STX-binding sites by up to a factor of 4 as compared to normal human white matter. This important finding could explain aspects of fast clinical remissions and 'silent' MS lesions on functional and morphological properties. Demyelinated axons may functionally reorganize their membranes and adapt properties similar to those of slow conducting unmyelinated nerve fibres which have a higher amount and a more diffuse distribution of STX binding sites. This report is the first description of an altered distribution of voltage-sensitive sodium channels in human multiple sclerosis lesions.

Aged↗

Cloning of a novel glutamate receptor subunit, GluR5: expression in the nervous system during development.

We have isolated cDNAs encoding a glutamate receptor subunit, designated GluR5, displaying 40%-41% amino acid identity with the kainate/AMPA receptor subunits GluR1, GluR2, GluR3, and GluR4. This level of sequence similarity is significantly below the approximately 70% intersubunit identity characteristic of kainate/AMPA receptors. The GluR5 protein forms homomeric ion channels in Xenopus oocytes that are weakly responsive to L-glutamate. The GluR5 gene is expressed in subsets of neurons throughout the developing and adult central and peripheral nervous systems. During embryogenesis, GluR5 transcripts are detected in areas of neuronal differentiation and synapse formation.

Aging↗

Distribution of voltage-dependent Na+ channels identified by high-affinity receptors for tetrodotoxin and saxitoxin in rat and human brains: quantitative autoradiographic analysis.

The localization of a putative voltage-dependent Na+ channel in adult rat and human brain was studied by light microscopic quantitative autoradiography using a tritiated derivative of tetrodotoxin ([3H]enTTX) and tritiated saxitoxin [( 3H]STX). Equilibrium binding experiments in the whole rat brain gave dissociation constants of 7.0 nM ([3H]enTTX) and 5.0 nM ([3H]STX). The dissociation constant for the binding of [3H]STX in the different human brain regions was near 1.5 nM. Autoradiograms demonstrated a heterogeneous distribution of toxin binding sites in the brain with a very good correlation of the mapping of tetrodotoxin and saxitoxin receptors. With the exception of a few regions, the same type of cartography was observed for human and rat brain structures. If toxin receptors were present in all brain regions, their density was particularly important in cerebral cortex, hippocampus, lateral septum and molecular layer of cerebellar cortex. Conversely, the medulla oblongata contained only low amounts of binding sites.

Adult↗

[Schwannoma and neurofibroma of the neck].

Three schwannomas and one neurofibroma of the neck were treated surgically in our department during the last years (1980-1987). These tumors are relatively rare. The different clinical and histopathological criteria of the two tumors are discussed. In spite of these differences, in most cases a correct diagnosis is made only during surgery. Therefore, the possibility of temporary or permanent damage to major nerves is always present and the patient should be informed accordingly.

Adult↗

[Hereditary neuropathy with liability to pressure palsies. A contribution to the differential diagnosis of multiplex mononeuropathy].

Hereditary neuropathy with liability to pressure palsies could be diagnosed in two families. This little-known, dominantly inherited disorder is clinically characterised by recurring, spontaneously regressive palsies of peripheral nerves, mostly after minimal mechanical compression of the nerve concerned. It can be clearly differentiated from mononeuropathies of different pathogenesis even in clinically not involved nerves, by means of pathological neurographic findings and by the detection of pathognomonic myelinic thickenings in nerve biopsies. Prognosis is favourable if recurrences are avoided. This means that counselling of the patients and their families is of prophylactic significance.

Adult↗

Liver fibrosis in carbamoylphosphate synthetase deficiency.

Structural sequelae of inherited defects of the urea cycle in general, and their liver pathology in particular, are still not well understood. This holds true especially for the possible late effects in involved organs of patients now surviving longer because of more effective therapy. Some urea cycle defects may result in chronic and progressive liver damage, as has been reported. A peculiar type of liver fibrosis was observed in a girl with carbamoylphosphate synthetase deficiency, who survived for 1 year and 7 months. Hepatic fibrosis, or even cirrhosis, has been observed in argininosuccinic aciduria. Long-term survivors with urea cycle disorders may form a group at risk for the development of chronic fibrosing liver disease.

Carbon-Nitrogen Ligases↗

[Interactive microcomputer program for calculation and normal values for routine clinical neurophysiological research].

A BASIC program for a 128 KByte microcomputer is described which is deviced to support every day clinical neurophysiological investigations. It provides calculating routines and normal values with a hard copy print option for visual, auditory, and somatosensory evoked potentials, peripheral motor and sensory nerve conduction velocities, and needle EMG potential analysis. All important arm and leg nerves and muscles are included. By its simplicity the program gives easy access to changes according to individual requirements.

Computers↗

Normal proliferation rate of galactocerebroside positive oligodendrocytes in brain cell cultures of the hypomyelinated mouse mutant jimpy.

Proliferation of oligodendrocytes from the jimpy (jp) hypomyelinated mouse mutant was studied in dissociated brain cell cultures. This was done by combining anti-galactocerebroside (GC) immunostaining (for identifying oligodendrocytes) with [3H]thymidine autoradiography (for identifying proliferating cells). Previously we showed that the expression of GC in culture by jp oligodendrocytes is not altered by the jp mutation. Present results show that in 7-, 14- and 21-day-old jp cultures oligodendrocytes proliferate at a rate similar to that of normal GC+ oligodendrocytes. This indicates that, in jp brain cell cultures, oligodendrocytes which are not affected by mutation in their capability to express GC are also unaffected with regard to their proliferation rate.

Animals↗

The central-peripheral transition zone of cervical spinal nerve roots in Jimpy mutant and normal mice. Light- and electron-microscopic study.

Comparative morphological and ultrastructural investigations on the cervical dorsal and ventral central-peripheral transition zones (CPTZs) of Jimpys and control mice have been performed at early and advanced myelination stages. After postnatal development a characteristic cone-shaped glial outgrowth extends into the proximal part of the dorsal roots, while the ventral roots exhibit short Schwann cell and peripheral nervous tissue invaginations into the spinal cord at the ventral root-spinal cord junction in both animal groups. In Jimpys, although there is marked central myelin deficiency and absence of oligodendroglial development on the CNS side, the normal general aspect of the CPTZs is maintained. Previously postulated astrocytic and neuroaxonal abnormalities in the mutants do not alter the central-peripheral borderline, and Schwann cell migration from the spinal nerve roots into the cord does not occur.

Animals↗