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Biomedical subjects

J Willeit

Publications and source records attributed to J Willeit.

89 records · Page 5Linked to original sources

Clinical and electrodiagnostic findings, nerve biopsy and blood group markers in a family with hereditary neuropathy with liability to pressure palsies.

Clinical, electrophysiologic and biopsy findings as well as studies of blood group markers in a family with hereditary neuropathy with liability to pressure palsies (HNPP) are reported. There was an autosomal dominant trait without genetic linkage between the HNPP gene and blood group markers controlled by chromosome 1. Reduced motor and sensory nerve conduction velocity was found in clinically affected and unaffected nerves. Characteristic morphological changes in sural nerve biopsy including tomaculous swelling were present.

Adolescent↗

[Nemaline myopathy: an unusual course].

A girl presents immediately post partum with postures and movements typical for severe muscular hypotonia (floppy infant). Her sucking and swallowing abilities are reduced. There is marked drooling. Broad alveolar ridges give the impression of a high-arched palate. Floppy infant-screening (muscle enzymes, EMG, NCV) was within normal ranges apart from a slight elevation of aldolase. Muscle biopsy performed at the age of two years revealed the diagnosis of nemaline myopathy. An onset of the disease with severe muscular hypotonia during neonatal period usually is linked with rapidly progressing, mostly lethal outcome. Our patient--in contrast--seems to suffer from a mild form.

Biopsy↗

[Reproducibility of ultrasound criteria for characterizing carotid artery stenoses].

Comparisons with intraoperative findings suggest that Duplex scanning may be of value in predicting the morphology of carotid artery stenoses. Such studies, however, are based on the results obtained by experienced investigators. To clarify whether sonographic criteria can be standardized, 6 investigators from different hospitals each documented 30 carotid artery stenoses of greater than or equal to 40% diameter reduction which could be imaged in at least 2 planes. Three sonographic criteria (plaque surface, echo density, echo structure), each with 8 categories, were assessed from the image documentations by the 6 as well as by 2 independent further investigators. Depending on the experience and on the device used 29-81% of all stenoses greater than or equal to 40% examined in the different laboratories could be included in the study. The +/- 1 category concordance between the different investigators averaged 50-60% for all sonographic criteria independent from the degree of stenosis and from the image quality. Because of lack of sufficient reproducibility the subjective assessment of sonographic criteria is found to be not suitable for use in multicentre studies.

Brain Ischemia↗

Doppler and duplex sonography of the cervical arteries and correlations with other examinations. A field study in a population over forty years.

Of the population of a small Tyrolean village, 185 (56%) of the 329 inhabitants over 40 years were investigated by means of Doppler and duplex sonography, electroencephalography (EEG), electrocardiography (ECG), and neurological examination. Four subjects (2%) previously had a transitory ischemic attack (TIA) or stroke in the carotid territory. Sonographically detectable abnormalities in one or more extracranial arteries were present in 42 (23%) persons. Of the 14 subjects with more than slight abnormalities in the common or internal carotid artery two were symptomatic. Two additional cases with TIA or stroke did not show relevant lesions on sonographic examination. The presence of narrowing in the extracranial artery was not related to risk factors (hypertension, smoking, obesity) or abnormalities on ECG and EEG. This study shows 1) that the clinical relevance of ultrasound screening of the carotid arteries in an average population is 15%; 2) that significantly more patients with TIAs or strokes are found in the group with more severe sonographic findings (p = 0.001) than in the group with normal ultrasound results.

Carotid Arteries↗

Primary CNS lymphoma presenting as a choreic movement disorder followed by segmental dystonia.

Clinical presentation of primary CNS lymphoma with an extrapyramidal movement disorder has not been recorded. A 66-year-old woman presented with chorea involving her left arm and subsequently developed right-sided segmental dystonia with prominent hemifacial dystonic spasms, milder torticollis and dystonia of the right arm. Investigations revealed primary CNS lymphoma with extensive involvement of the right-sided basal ganglia as well as lesions confined to the head of the left caudate nucleus and the corpus callosum. Chorea of her left arm subsided with progressing disease while remission of right-sided segmental dystonia was observed following radiotherapy of the brain. This patient's findings and a review of the literature suggest a possible relation between cranio-cervical dystonia and pathology affecting the head of the caudate nucleus.

Aged↗

[Hypophyseal abscess and cerebral arteritis in a fatal course of pneumococcal meningitis].

Even today uncomplicated courses of pneumococcal meningitis show relatively high fatality rates. Abscess formation leads to a drastic deterioration of prognosis; the same applies to the rarely observed occurrence of a cerebral arteritis. Up to 1985 only 50 cases of pituitary abscess had been described in the literature. This case report describes the signs and symptoms as well as the neuroradiological and post mortem findings on a patient who succumbed to a pneumococcal meningitis, complicated by formation of a pituitary abscess and cerebral arteritis.

Abscess↗

[Differential diagnosis of spinal processes using modern diagnostic procedures].

Modern diagnostic management of diseases of the spinal cord is discussed, illustrated by some exemplary cases and reviewed by the literature. Special attention is directed to high resolution tomography, magnetic resonance imaging, analysis of the cerebrospinal fluid and electrophysiological methods. It seems conceivable that a shift from invasive methods to noninvasive procedures (e.g. magnetic resonance imaging) may occur.

Angiography↗

[Quantification of cerebral circulation using duplex sonography].

An attempt was made to measure quantitatively the total cerebral blood flow by means of Duplex sonography. In a group of healthy young subjects a median value for total cerebral blood flow was obtained amounting to 469 ml/min +/- 30%; repeat measurements yielded a maximum deviation of +/- 11%. In three patients the values obtained after severe apoplectic insult due to occlusion of the internal carotid artery were definitely below the value of the group of healthy subjects, whereas the value for the total blood flow was in the upper range of normal values in a patient with occlusion of the a. cerebri media. Comparative measurements of the regional cerebral blood flow with xenon 133 yielded in those patients with occlusion of the internal carotid artery a markedly reduced mean flow and in the patient with occlusion of the a, cerebri media a less markedly reduced mean flow. Regionally reduced perfusion was seen in all the four patients in the range of the clinically and computer tomographically well-known ischaemia zone. Thanks to the simplicity of this sonographic examination method it could be a useful decision parameter in determining the indication for a reconstruction of the carotid artery, especially in asymptomatic patients.

Carotid Artery Diseases↗

Meningopolyneuritis Bannwarth with focal nodular myositis. A new aspect in Lyme borreliosis.

A patient with serologically confirmed infection by Borrelia burgdorferi presenting with painful paresis and atrophy of the proximal muscles of both upper extremities and bilateral facial paresis is described. Electromyography showed a neurogenic and myopathic pattern, and creatine kinase was raised. Muscle biopsy revealed the typical signs of focal myositis. Treatment with i.v. penicillin led to dramatic clinical and serological improvement. Muscle biopsy was repeated 2 months later; neurogenic changes were still present, but no inflammatory signs could be seen anymore. Thus, the presented case may be the first reported of meningopolyneuritis accompanied by focal nodular myositis, in the second stage of Lyme borreliosis.

Biopsy↗

New perspectives in acute spinal epidural abscess. Illustrated by two case reports.

The histories of two patients with spinal epidural abscess are reported. Attention is drawn to the route of infection by means of direct inoculation of pathogens in the wake of paravertebral infiltration of local anaesthetics for relieving lower backpain, furthermore we emphasize the rare occurrence of a relapsing acute spinal epidural abscess. Additionally the diagnostic superiority of nuclear magnetic resonance tomography is described in a patient known to be allergic to commonly used contrast material.

Abscess↗

Cerebrovascular lesions and livedo reticularis (Sneddon's syndrome)--a progressive cerebrovascular disorder?

Four cases are described in which livedo reticularis was associated with repeated cerebrovascular accidents, which eventually resulted in severe disability in two cases. Patients with severe disability had a history of many years, whereas two patients with little or moderate residual disability had a follow-up of 3 years each. CT scan revealed multifocal cerebral infarctions and cortical atrophy in all cases. Repeated cerebral angiograms, done in three cases, showed no signs of a vascular disease. There were no parameters that pointed to active immunological or inflammatory disorder. Neither clinical evidence of heart or large vessel disease was found. Observations suggest that a so-far unknown progressive cerebral vessel disease associated with livedo is the cause of a steady increase in multiple small cerebral infarctions. Because of the progressive character of the disease the search for effective therapy is needed.

Adult↗

Magnetic resonance imaging in the diagnosis of spinal cord diseases.

Experience with magnetic resonance imaging in 22 patients with diseases of the spinal cord is reported. Important additional diagnostic information as compared to conventional neuroradiological techniques (myelography, spinal CT) was gained especially in cases of hydrosyringomyelia, intraspinal tumour and multiple sclerosis. It is suggested that magnetic resonance imaging may become the method of choice in the diagnosis of structural spinal cord diseases.

Adult↗

CT and MR imaging in neuro-Behçet disease.

Computed tomography and magnetic resonance (MR) studies were done in one case of Behcet disease and showed a focal lesion in the upper brain stem. Early institution of therapy was followed by a complete clinical remission and disappearance of the CT and MR changes. Computed tomography and MR are important modalities for the early detection of Behcet disease when reversibility of the pathological changes is still possible.

Adult↗