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Biomedical subjects

R Edis

Publications and source records attributed to R Edis.

8 recordsLinked to original sources
PubMed2006

Primary Whipple's disease of the brain: characterization of the clinical syndrome and molecular diagnosis.

BACKGROUND: Whipple's disease (WD) of the brain without evidence of systemic involvement is a rare illness that is difficult to recognize and potentially life-threatening. AIM: To elucidate the clinical features and diagnosis of primary WD of the brain. DESIGN: A single case study, with review of published data. METHODS: We linked the information about our patient with 956 citations to published WD material. We were able to identify 19 other patients with primary WD of the brain. RESULTS: Our patient was a 48-year-old woman who presented 2 years ago with generalized tonic/clonic seizures. WD of the brain was diagnosed after a life-threatening subacute deterioration leading to reduced consciousness and eye movement abnormalities. She had atrophy and gliosis of the right hippocampal formation, and nodular enhanc-ing lesions. She developed the syndrome of inappropriate ADH secretion, blepharospasm with a complete paralysis of vertical gaze, a severe amnesic syndrome, obstructive sleep apnoea, altered sleep physiology and CSF oligoclonal bands. Primary WD of the brain was diagnosed after PCR confirmed Tropheryma whipplei DNA in CSF and blood. She recovered after intravenous methylprednisolone, meropenem and cotrimoxazole. She has now survived for 24 months, lives independently and drives. Comparing our patient with the 19 others, two clinical syndromes were apparent, in both adults and children: (i) multifarious neurological symptoms and signs with a CT or MRI showing multiple nodular enhancing lesions; (ii) focal neurology secondary to solitary mass lesions. DISCUSSION: Primary WD of the brain may be diagnosed by recognition of these two clinical syndromes, and confirmed by the application of molecular biological techniques such as PCR.

Brain Diseases↗
PubMed2001

Comparison of laboratory uranium sorption data with 'in situ distribution coefficients' at the Koongarra uranium deposit, Northern Australia.

Distribution coefficients derived from laboratory sorption experiments are commonly used to model the migration of long-lived radionuclides in the environment. However, it has been suggested that field measurements in natural systems ('in situ distribution coefficients') may provide a more accurate indication of 'true' partitioning coefficients than laboratory experiments. In this paper, the relationship between field and laboratory sorption data for uranium is evaluated, using data from the Koongarra uranium deposit in Northern Australia. An extensive suite of laboratory sorption measurements and in situ partitioning data for U has been obtained at this site. A valid comparison can only be made when the calculation of field partitioning is based on U in 'accessible' phases (rather than total U in the solid) and U species in true solution (i.e. excluding particles). In this study, accessible U was estimated using a chemical extraction and the results were verified using an isotope exchange technique. A satisfactory correspondence between field and laboratory partitioning data was obtained when the pH values and partial pressures of CO2 in laboratory sorption experiments were similar to those found in the field. Under these conditions, the measured laboratory sorption ratios (Rd) and in-field partitioning values (Pacc) for U at Koongarra were in the range between approximately 1 x 10(3) and 2 x 10(4) ml/g. However, the distribution of U in solid and groundwater phases at Koongarra is extremely heterogeneous. This variability must be taken into account when modelling radionuclide migration at this site.

Adsorption↗
PubMed1998

Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions.

Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years. Autopsy revealed pathological features typical of neuronal intranuclear inclusion disease (NIID) and positive ubiquitin immunostaining of the inclusions. Two adult sons of one of the twins have now developed an identical illness. This family provides strong evidence of an hereditary form of NIID.

Adult↗
PubMed1981

Visual involvement in Friedreich's ataxia and hereditary spastic ataxia. A clinical and visual evoked response study.

Visual involvement was assessed in 21 patients with Friedreich's ataxia and in 17 patients with spastic ataxia by neuro-ophthalmic examination and by recording visual evoked responses (VERs). Two thirds of the patients with Friedreich's ataxia had some degree of visual impairment and an abnormal VER, whereas only three of the 17 patients with spastic ataxia showed abnormalities. The patients with Friedreich's ataxia could be subdivided into two groups, one with and the other without visual involvement; there was no correlation between the presence and severity of visual involvement and age or duration of symptoms in the group as a whole. Patients with the most severe degrees of visual impairment usually had flat VERs, whereas in less severely affected cases, the responses were reduced in amplitude, were delayed, and showed an increased degree of temporal dispersion. The findings have pathophysiological implications and raise the question of heterogeneity in Friedreich's ataxia.

Adolescent↗
PubMed1981

Pattern visual evoked responses in hereditary spastic paraplegia.

Pattern visual evoked responses were studied in 13 patients from nine families with dominant herditary spastic paraplegia and in seven sporadic cases. The responses were normal in all the dominantly inherited cases but abnormal in three of the seven sporadic cases.

Adolescent↗
PubMed1978

The contribution of evoked potentials in the functional assessment of the somatosensory pathway.

The value of evoked potentials in studying conduction in the somatosensory pathway was assessed in patients with various neurological disorders. In patients with multiple sclerosis (MS) abnormalities of the cervical response (N14) were found particularly in longstanding cases but also in the early stages of the disease, even in patients without sensory symptoms or signs, and were reversible in some patients. The cortical response was also abnormal in some cases but the two were not always affected together. In Friedreich's ataxia both the cervical and cortical responses were usually abnormal. Subclinical abnormalities of the cervical responses were found in some patients with hereditary spastic paraparesis or mixed forms of spinocerebellar ataxia. The cervical responses were also abnormal in patients with peripheral neuropathy and cervical radiculopathy, and in some patients with brain-stem or thalamic lesions. Cervical and cortical responses were normal in the lateral medullary syndrome, whereas the cortical response was markedly abnormal in patients with high brain-stem or cerebral hemisphere vascular lesions. Cortical and subcortical responses were abnormal in some patients with stereotactic thalamic lesions. Enhanced cortical responses were found in patients with lesions at different levels in the CNS. The most marked enhancement was observed in patients with familial myoclonic epilepsy. Lesser degrees were found in some patients with MS, progressive supranuclear palsy, thalamic lesions, brain-stem encephalitis and syringomyelia. Enhanced responses were usually found in patients with minimal or no clinical sensory involvement. It is postulated that this type of abnormality results from an interference to the inhibitory mechanisms which normally operate at various levels in the somatosensory pathway. It is concluded that evoked potential studies are a valuable adjunct to the clinical evaluation of sensation, and that they may provide useful information on the pathophysiology of conduction in the somatosensory pathway.

Brain Diseases↗