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Biomedical subjects

R Dom

Publications and source records attributed to R Dom.

At least 91 records · Page 5Linked to original sources
PubMed1985

Early onset myophosphorylase deficiency (Mc Ardle's disease) with absence of myophosphorylase protein on SDS electrophoresis. The role of the ischemic forearm test.

The authors present a case report of early onset myophosphorylase deficiency (Mc Ardle's disease) with absence of myophosphorylase protein on SDS-electrophoresis. The different varieties of myophosphorylase deficiency and the clinical investigations which may lead to the diagnosis are reviewed. In particular, the relevance and possible dangers of an ischemic forearm exercise test and the suggestion of using a needle biopsy as a preliminary screening in similar cases of metabolic myopathies are discussed.

Adult↗
PubMed1985

Leu-3+ lymphocytes account for increased CSF cellularity.

Inflammatory conditions of the central nervous system (CNS) are often marked by an increase in lymphocyte number in the cerebrospinal fluid (CSF). In order to determine if changes in CSF cell numbers can alter T-lymphocyte subset composition in CSF or in blood, cell surface markers were evaluated in 25 CSF and paired blood samples from a variety of neurologically affected patients. T-cell subset levels in peripheral blood did not reflect subset levels in paired CSF samples. However, CSF samples with elevated cell numbers (greater than 3 cells/mm3) had significantly increased levels of Leu-3+ T-cells (P less than 0.001), but not Leu-2+ T-cells relative to CSF samples with low cell counts. These data suggest a selective increase in the Leu-3+ T-lymphocyte subset in CSFs with increased cellularity in patients with acute neurologic signs.

Antigens, Differentiation, T-Lymphocyte↗
PubMed1985

Variability of outcome in Joubert syndrome.

Two children with Joubert syndrome are reported. Patient one is the first case with Joubert syndrome where CT-findings are confirmed by autopsy. Until now only three cases with necropsy findings were reported. Patient two shows a remarkable clinical outcome not previously mentioned.

Cerebellum↗
PubMed1985

Nerve fiber planimetry in acute and chronic nerve lesions and in nerve lesions in continuity.

The level of resection of damaged nerve tissue in acute and chronic nerve lesions was determined on the basis of the vascular structure, the consistency of the nerve during palpation, the amount of interfascicular connective tissue, and the mushroom formation of the fascicles. Intraoperative electrophysiologic recordings were performed on the cut nerve ends to determine the function of the axons. Postoperative planimetric analyses of cross sections made through the resected nerve stumps were performed to measure axonal and endoneural tube diameters and to correlate these results with the clinical criteria used through the operating microscope. Axons in the proximal nerve ends of acute and chronic nerve lesions displayed a similar mean diameter. Endoneural tubes in chronic nerve lesions shrunk significantly as nerve repair was delayed. In several nerve lesions in continuity, axons remained present across the injured site despite absence of electrical conduction. When comparing the results of axonal or endoneural tube diameters of chronic nerve lesions to the results of other studies or acute nerve lesions, we demonstrated that careful examination through the operating microscope provided valid information about the proper management and resection level of chronic nerve lesions. Electrophysiologic evaluation aided the surgical management but was not useful for the resection of the distal damaged nerve segment. The presence of an evoked potential in the proximal nerve ends guaranteed a nearly normal nerve fiber diameter distribution, while the absence of such a potential in the distal nerve ends indicated an abnormal, absent, or disturbed endoneural tube diameter histogram.

Acute Disease↗
PubMed1984

Rectus femoris muscle grafts performed with and without vascular anastomosis: an experimental study in the rabbit.

To study the effect of vascular repair on muscle transplants, rectus femoris muscles in rabbits were grafted orthotopically with and without microsurgical blood vessel repair. The function and structure of the grafts were evaluated 90 days after operation. Contractile properties were measured in vivo. Muscle biopsies were stained for nerve and motor end-plate regeneration. The twitch tension and maximal tetanic tension returned respectively to 32 +/- 6% and 32 +/- 7% of control values in the vascular transplants. In the avascular transplants twitch tension and maximal tetanic tension were respectively 6 +/- 1% and 8 +/- 1% of control values. Poor regeneration of muscle fibres, infection, fibrosis and immature reinnervation were the reasons for failure of avascular transplants. The avascular muscle grafts had insufficient contractile properties and were more static than dynamic. In conclusion, large avascular muscle grafts should be avoided because of the likelihood of poor revascularisation with extensive ischaemic necrosis, resulting in scar tissue.

Animals↗
PubMed1984

The stimulation of prolactin secretion by taurine: studies on the site of action.

Taurine's site of action within the central nervous system was localized by studying its effect on prolactin secretion following the microinfusion of 125 nmoles of this amino acid into discrete regions of the brain. Taurine was found to stimulate prolactin secretion only when microinfused into the arcuate nucleus of the hypothalamus. Taurine was not effective in other areas of the hypothalamus or in several extra-hypothalamic sites. Mannitol infusions (125 nmoles) into the arcuate nucleus, used as a control, were without effect on prolactin secretion. These studies extend previous observations on the prolactin-releasing action of centrally administered taurine and suggest further that the arcuate nucleus is one target site for this action.

Animals↗
PubMed1984

Low grade astrocytoma in children treated by surgery and radiation therapy.

Results of treatment of low grade astrocytoma by surgery and postoperative irradiation in 35 children under 15 were retrospectively analysed. The actuarial overall 5 and 10 year survival was 94 and 82 per cent, the actuarial relapse-free survival 87 and 70 per cent, respectively. The male patients fared better, although not significantly, than the females. No significant difference in relapse rate was found between cystic and solid tumors. The cystic processes had a more indolent course, but a fatal outcome was noted in one case (after 21 years). No relapse occurred in totally removed tumors (10 cases), which throws doubt on the need for postoperative irradiation in this subgroup. In the subtotally resected processes (24 cases) radiation therapy seemed to be beneficial, as in 3 of 4 local recurrences geographic misses of tumour remains probably existed. No dose response relationship was apparent. The performance status was severely impaired in 11 per cent (3/27 patients). Growth retardation was observed in 2 patients.

Actuarial Analysis↗
PubMed1983

Wallenberg's syndrome caused by a craniopharyngioma "en plaque".

Wallenberg's syndrome is the clinical manifestation of the obliteration of arterial blood vessels supplying the dorsolateral part of the medulla oblongata, the posterior inferior cerebellar artery being involved in most cases. A patient is described in whom the typical features of Wallenberg's syndrome correlated with cystic necrosis in the perfusion area of the posterior inferior cerebellar artery. A craniopharyngioma spreading along the pons and involving the posterior inferior cerebellar artery, the basilar artery, and its branches was found to be responsible for the infarction of the dorsolateral medulla oblongata.

Calcinosis↗
PubMed1983

Motor neuron rigidity. An electrophysiological, pharmacological and pathological study.

A 28-year-old male with generalized muscle stiffness and widespread muscle twitching is described. Continuous electrical activity was present at rest and could be abolished only by succinylcholine, curare, and block of the distal part of the peripheral nerve. Muscle biopsy revealed mild myopathic changes. In addition glycogen depletion was found in muscle fibres which were type IIb in one region of the biopsy and type I in another. With carbamazepine treatment marked improvement occurred both clinically and electromyographically. It is concluded that the abnormal electrical activity originated in the terminal branches of the peripheral motor nerve and that this activity was confined to muscle fibres belonging to single motor unit territories.

Adult↗
PubMed1981

Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases.

Among the hereditary affections of the nervous system associated with deafness, a rare condition called "progressive pontobulbar palsy with deafness" has been described. In this slowly progressive condition, hearing loss and vestibular are-flexia are almost always the first symptoms, occurring in late childhood or early adulthood. Only 18 cases-some sporadic, several familial-have been published without a full report of pathological findings. The clinical and pathological data of two new cases-one familial, one sporadic-are described here. There are differences from other forms of bulbar paralysis, lower motor neuron diseases, and some spinocerebellar hereditary affections. In view of the homochrony and homotypy in familial cases and the pathological findings, progressive pontobulbar palsy with deafness appears to be an abiotrophic process wih autosomal recessive inheritance.

Adolescent↗
PubMed1981

Cerebral disseminated coagulation. An encephalitis-like syndrome in a boy with dissecting aortic aneurysm.

A boy was suspected of having meningoencephalitis probably of viral origin, although all microbiological, including virological, tests were negative. Postmortem examination revealed a dissecting aortic aneurysm and disseminated intravascular coagulation involving the central nervous system exclusively. The clinical evolution, the age of the patient, and the association of DAA with this cerebral disseminated coagulation is very unusual.

Adolescent↗