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Biomedical subjects

T N Witt

Publications and source records attributed to T N Witt.

At least 37 records · Page 2Linked to original sources
PubMed1991

[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases].

Progress in molecular genetics has provided insight into a number of neurogenetic disorders. The chromosomal location of the genes for Huntington's disease, Wilson's disease, myotonic dystrophy and Friedreich's ataxia are now known. In families affected by these illnesses, linkage analysis can now be employed for presymptomatic or prenatal diagnosis. The genes for Duchenne and Becker muscular dystrophy and neurofibromatosis I have been cloned and sequenced, allowing the direct analysis of the genetic defect in many cases, and thereby providing further insight into the pathophysiology. In addition, the classification of several neurogenetic diseases, such as the hereditary motor and sensory neuropathies or the spinal muscular atrophies can now be based on the chromosomal location of the affected gene(s).

Chromosome Mapping↗
PubMed1990

[Diabetic radiculopathy].

Four patients (two men and two women, aged between 54 and 75 years), known to have type II diabetes since two to twenty years, had for several months been suffering from segmental pain of thoracoabdominal or lumbosacral distribution. Diabetic radiculopathy was confirmed by paravertebral electromyography. Analgesics having brought insufficient relief, treatment with an insulin infusion pump was commenced. The pains disappeared within 2-14 days. Even when the infusion treatment was no longer used, pains did not recur under an euglycaemic regimen. These results suggest that the transitory use of insulin infusion by pump can be a worthwhile therapeutic alternative in diabetic radiculopathy.

Aged↗
PubMed1990

Normal dystrophin in McLeod myopathy.

Dystrophin and its gene were studied in a patient with McLeod syndrome. This X-linked recessive myopathy has been localized to Xp21, as has the Duchenne muscular dystrophy gene locus, which codes for dystrophin. Histopathological study of the patient's muscle showed mild subclinical myopathy. Immunological studies of dystrophin in two separate biopsy specimens and analysis of dystrophin gene DNA from a blood sample did not detect an abnormality. This suggests that the Duchenne muscular dystrophy gene, albeit close to the McLeod locus, is not involved in McLeod myopathy.

Adult↗
PubMed1990

Oculo-bulbar myasthenic symptoms as the sole sign of tumour involving or compressing the brain stem.

Four patients with tumours involving or compressing the brain stem are described whose initial clinical symptoms of fluctuating paresis of the external ocular muscles and/or the pharyngeal muscles without other neurological deficits led to the primary diagnosis of focal myasthenia. The combination of an unusual clinical pattern, involvement of muscles of only one ocular nerve or severe dysphagia/dysarthria without extension of the myasthenic symptoms, should lead to further investigation to exclude other reasons of a focal myasthenic syndrome such as a brain-stem tumour.

Adult↗
PubMed1990

Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.

We present a case of late-onset acid maltase deficiency (AMD) with pronounced involvement of the liver and skeletal muscles. In addition, and in contrast to other adult cases of AMD, the case presented here shows CNS pathology with hypodense and hyperintense white matter areas on CT and MRI scans, and myelin changes ranging from focal areas of demyelination to necrosis. Neuropathologic changes seem to be related to unusual vascular pathology consisting of vacuolar degeneration of small and large arterial blood vessels. Vacuoles of varying size, partly filled with granular PAS-positive material, were found in pericytes and smooth muscle cells of arterial vessel walls. Electron microscopy revealed lysosomal and cytoplasmic free glycogen in smooth muscle cells in the intima of large cerebral arteries as well as in pericytes of arterioles and capillaries. Accumulation of glycogen locally was associated with severe cellular damage and necrosis. The formation of a great number of small aneurysms of intracerebral arteries is thought to be the result of cell damage in the vessel walls.

Adult↗
PubMed1989

Complete bilateral internal ophthalmoplegia as sole clinical sign of botulism: confirmation of diagnosis by single fibre electromyography.

A case of complete bilateral internal ophthalmoplegia as the sole clinical sign of botulism is reported. Diagnosis was immediately confirmed by single-fibre electromyography (SFEMG), which revealed abnormally high blocking (14.3%), contrasting with moderately increased jitter (mean consecutive difference in the extensor digitorum communis muscle, 43.9 microseconds). After giving equine botulinum antitoxin and simultaneous forced emptying of the bowels, ocular symptoms completely disappeared within 2 days. Six days, 5 weeks and 6 months after the first SFEMG study, the jitter was still abnormal, even becoming more so with time. Blocking, however, was only rarely observed in the follow-up studies. It is concluded that SFEMG may serve as a useful and sensitive method for the rapid diagnosis of botulinum intoxication, even in cases where no clinical signs of general muscular weakness are apparent.

Adult↗
PubMed1988

Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease.

The first German family with autosomal dominant Emery-Dreifuss syndrome (EDS) is described, with electrophysiologic and myopathologic results providing evidence of a primary neurogenic disease. According to classification of the scapulo peroneal syndrome without cardiomyopathy, we conclude that there are two variants of EDS: one myopathic, the other neurogenic in origin. Therefore, the term Emery-Dreifuss muscular dystrophy should be avoided. Instead, each case of EDS should be classified as myopathic or neurogenic with X chromosome recessive or autosomal dominant inheritance.

Adolescent↗
PubMed1988

[Central motor conduction time in multiple sclerosis: an comparison of visual and somatosensory evoked potentials in relation to the type of disease course].

The central motor conduction time (CMCT) was measured by electrical transcranial and spinal stimulation in 70 consecutively admitted patients with definite multiple sclerosis and 26 normal volunteers. The results of the patientgroup were compared with visual and somatosensory (median and tibial nerve) evoked potentials. The mean CMCT of the volunteers was 5.4 ms versus 11.1 ms in the patient group. In 55 of the 70 patients (79%) the CMCT was delayed (p less than 0.0001). VEP showed pathologic results in 67%, SEP of tibial nerve in 51%, SEP of median nerve in 41% of the patients. In 10 of the 70 cases (15%) only CMCT was pathologic. Especially in the first attack of the disease the CMCT (79% pathologic results) was superior in comparison to the evoked potentials (VEP and SEP together 43% pathologic findings). In our cases without clinical evidence of a pyramidal tract lesion a subclinical affection of this pathway could be determined in 69% by a pathologic CMCT. We regard this method therefore as a valuable tool in the early diagnosis of multiple sclerosis.

Adult↗
PubMed1987

[Dominant autosomal humeroperoneal syndrome with early contractures and cardiomyopathy (Emery-Dreifuss syndrome)].

At least seven members of a family coming from southern Germany (Franconia) have manifested Emery-Dreifuss syndrome within four generations. This syndrome is characterized by slowly progressing atrophic pareses, generally in a humeroperoneal distribution, premature joint contracture, and cardiomyopathy with reduction of functional capacity. Up to now four members of this family have died from cardiac causes between the age of 39 and 46 years. Three family members have now been thoroughly examined; they showed typical muscular atrophies and contractures. The two older patients were diagnosed as having a cardiomyopathy with a complete atrioventricular block and ventricular tachycardia. Electromyographic and histological findings indicate a primary neurogenic process. Regular cardiological examinations combined with effective therapy (for example, implantation of a cardiac pacemaker and treatment with antiarrhythmic drugs) will be necessary in treating the serious arrhythmias. Progressive myocardial insufficiency required heart transplantation in one of our patients, which was successfully performed. Macroscopic and microscopic examination of the explanted heart showed a dilatative cardiomyopathy with hypertrophy and dilatation of both atria and ventricles, differences in the diameters of individual heart muscle cells, and a predominately focal interstitial fibrosis.

Adolescent↗
PubMed1983

[Electrodiagnostic and histochemical studies on the effect of electric stimulation on the atrophy of denervated laryngeal muscles in animal experiments].

UNLABELLED: Electrodiagnostic and histometric investigations have been carried out on 56 adult male rabbits following unilateral paralysis of the recurrent laryngeal nerve. Exponential current impulses were externally applied. The excitation threshold was determined endoscopically and also described graphically in terms of the excitation intensity as a function of time (I/t-curves). The diagnostic results thus obtained permit determination of the corresponding excitation parameters for therapy. The success of the therapy was evaluated from histometric data on type I and type II fibres of the vocalis and the posterior cricoarytenoid muscles. RESULTS: 1. The stimulation of denervated laryngeal muscles by external application of exponential current impulses is selective. 2. The extent of the neurogenous atrophy of denervated muscles following paralysis of the recurrent nerve can be diagnosed electrically. 3. This atrophy could be significantly reduced by proper choice of stimulation parameters within the time span of the experiment (28 days).

Animals↗