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Biomedical subjects

C Bassetti

Publications and source records attributed to C Bassetti.

At least 73 records · Page 4Linked to original sources
PubMed1996

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral arteriopathy characterized by the recurrence of subcortical infarcts leading to dementia. A genetic linkage analysis conducted in two large families recently allowed us to map the affected gene on chromosome 19 in a 12-cM interval bracketed by D19S221 and D19S215. In the present study, these first 2 families and 13 additional ones, including a total of 199 potentially informative meiosis, have been genotyped with eight polymorphic markers located between D19S221 and D19S215. All families were linked to chromosome 19. The highest combined lod score (Zmax = 37.24 at theta = .01) was obtained with marker D19S841, a new CAn microsatellite marker that we isolated from chromosome 19 cosmids. The recombinant events observed within these families were used to refine the genetic mapping of CADASIL within a 2-cM interval that is now bracketed by D19S226 and D19S199 on 19p13.1. These data strongly suggest the genetic homogeneity of this recently identified condition and establish the value of its clinical and neuroimaging diagnostic criteria. Besides their importance for the ongoing positional cloning of the CADASIL gene, these data help to refine the genetic mapping of CADASIL relative to familial hemiplegic migraine and hereditary paroxysmal cerebellar ataxia, conditions that we both mapped within the same chromosome 19 region.

Cerebral Arterial Diseases↗
PubMed1996

[Clinical symptoms and stroke syndrome].

A careful clinical examination usually allows a precise topographic stroke diagnosis. This article reviews the main symptoms and signs and the vascular syndromes of stroke. Vascular territories of the brain are described and illustrated with two figures.

Aphasia↗
PubMed1995

Babinski and Babinski sign.

Babinski's sign probably is the best known neurologic eponym, referring to dorsiflexion of the great toe with or without fanning of the other toes and withdrawal of the leg. This follows plantar stimulation in patients with pyramidal tract dysfunction. Although the plantar reflex already had been described, Babinski--a French neurologist of Polish descent and a pupil of Charcot--was the first to differentiate between a normal and pathologic response of the toes and recognize its clinical implication. Despite the continuing controversy over its pathophysiologic interpretation, the clinical utility of Babinski's sign remains unchanged almost 100 years after its description.

Eponyms↗
PubMed1995

[Delirium: occurrence, diagnosis and therapy].

Delirium, i.e. an acute confusional state, is frequently observed in a general hospital. Prevalence of delirium increases with higher age, usually in patients with cognitive deficits (e.g. signs indicative of some dementia) and particularly in those older patients with severe somatic illness. Symptoms of delirium are considerably uniform irrespective of different etiological causes; however, delirium is frequently underrecognized, which may lead to several complications and higher mortality rates. In this article the authors summarize data on prevalence, symptomatology as well as etiology and pathogenesis of delirium. In addition, syndromes which may have symptoms similar to delirium are discussed, and their treatment is recommended.

Aged↗
PubMed1995

[Sleep disorders in childhood].

Sleep disorders in childhood are frequent and usually harmless. They rarely point to a serious disease. Difficulty in falling asleep and nightly awakenings are age-dependent and transitory. While the largely harmless somnambulism and pavor nocturnus occur in the deep sleep of the first third of the night, the anxiety dreams of REM sleep appear preferentially in the second half of the night. Other disorders such as nocturnal enuresis and talking in sleep may occur during the whole night. It is very important to inform the parents because this helps to counter fears and false expectations. Consistent sleep hygiene needs to be developed with avoidance of irregular sleep rhythm and an unrestful sleep environment. Sometimes it is necessary to learn new behaviour patterns with the child. Only exceptionally is drug therapy indicated. However, nocturnal breathing disorders and nocturnal epilepsy do have a pathological significance and need specific therapy. In order to clarify the reasons for sleep disorders, it is necessary to keep a sleep diary, to undertake specific examinations (e.g. psychological, pneumological, neurological, urological, otorhinolaryngological and possibly using diagnostic equipment such as video-polysomnography).

Cataplexy↗
PubMed1995

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family.

This paper reports a Swiss family affected by a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) linked to chromosome 19q12. In three generations several members of this family had recurrent stroke-like episodes and, some developed subcortical dementia, migraine-like headaches, and depression. The clinically affected family members had multiple subcortical infarcts and diffuse leukoencephalopathy on MRI. Necropsy of one patient showed a distinctive non-amyloid and non-atherosclerotic angiopathy of small cerebral and leptomeningeal arteries with concentric depositions of a basophilic granular material replacing the smooth muscle cells of the media. Linkage analysis with five chromosome 19 markers spanning the estimated CADASIL interval showed the absence of any recombinant and positive Lod scores, highly suggestive of linkage of this condition to the CADASIL locus. CADASIL might be an underestimated cause of familial stroke and should be considered in the differential diagnosis of hereditary stroke.

Adult↗
PubMed1995

Accuracy of an intelligent CPAP machine with in-built diagnostic abilities in detecting apnoeas: a comparison with polysomnography.

BACKGROUND: In patients with sleep apnoea early diagnostic evaluation and treatment may be delayed due to limited access to full polysomnography (PSG). For "typical" patients, simplified strategies are needed. A study was performed to evaluate the accuracy of a new continuous positive airway pressure (CPAP) device with in-built diagnostic abilities (Autoset) in detecting apnoeas. METHODS: Twenty seven patients underwent full overnight polysomnography. Data with the Autoset were acquired simultaneously. Standard nasal prongs were used. Apnoeas were detected by special analysis of the flow signal. As the Autoset derives all its data from one signal, careful examination of the raw data is important to assess the quality of the flow signal. RESULTS: There was a correlation between the apnoea index (AI) assessed by the Autoset (AI-Autoset) and by polysomnography AI-PSG (r = 0.85) and between the AI-Autoset and the apnoea/hypopnoea index (AHI) during polysomnography (r = 0.87). The Autoset identified patients with an AHI-PSG of > 20 (a level of respiratory disturbance that would warrant consideration for treatment in most centres for sleep disorders) with a sensitivity of 82% and a specificity of 90%. CONCLUSIONS: The good correlation between the apnoea index measured by the Autoset and by polysomnography, and the high sensitivity in detecting patients with an AHI of > 20, may make the Autoset a valuable tool for the management of typical patients with sleep apnoea. However, very low values for nasal ventilation on the printout raises the suspicion of poor signal quality and misleading results.

Adult↗
PubMed1995

Hemiplegia vegetativa alterna (ipsilateral Horner's syndrome and contralateral hemihyperhidrosis) following proximal posterior cerebral artery occlusion.

BACKGROUND: Posterior cerebral artery (PCA) occlusive disease usually produces homonymous visual field defects, hemisensory loss, and neuropsychological deficits. Conversely, the combination of hemiparesis, Horner's syndrome, and contralateral hemihyperhidrosis has never been reported before. CASE DESCRIPTION: A patient with infarction in the superficial and deep territories of the right PCA presented with a unique clinical picture, which included contralateral hemiparesis, hemihyperhidrosis, and ipsilateral Horner's syndrome. Magnetic resonance imaging disclosed infarcts in the right anterolateral midbrain, ventroposterolateral thalamic-subthalamic area, and temporo-occipital lobes. CONCLUSIONS: The alternating vegetative syndrome (hemiplegia vegetativa alterna) observed in this patient supports the hypothesis of the existence of an uncrossed excitatory and a crossed inhibitory hypothalamospinal sympathetic pathway.

Adult↗
PubMed1994

[Neurology of consciousness and of consciousness disorders].

The two physiologic components of conscious behaviour, namely arousal (vigilance) and content of consciousness (presence of mind), may be affected differently, depending on the type and distribution of the underlying brain disease. Disturbance of arousal primarily affects wakefulness and awareness and leads to obtundation, stupor and coma. States of reduced arousal are caused by bilateral lesions of the so-called ascending reticular activating system (ARAS), which is situated in the upper brainstem and the paramedian diencephalon. If, on the other hand, cognitive and mnemic function are degraded, the contents of consciousness are disordered; depending on the extent of the disturbance, confusion, lethargy and, finally, a vegetative state ensues. The chronic vegetative state (coma vigil) describes a condition of total mental loss with preserved vegetative functions and arousal. Degraded cognitive and mnenic functions results from either toxic-metabolic or extensive structural disorders of the cerebral cortex, where the limbic and mesial frontal areas play a dominant role for conscious behaviour. If the function of extensive areas of both hemispheres is suddenly depressed, temporarily reduced arousal also results. In order to differentiate between toxic-metabolic and structural brain diseases, the motor reactions, the ocular and the pupillary reflexes must be examined apart from responsiveness.

Arousal↗
PubMed1994

[Acute confusional states. Analysis of 60 cases observed in a neurological department].

The authors describe the clinical picture, etiology and evolution of 64 patients admitted because of an acute confusional state to the Department of Neurology of the University Hospital in Lausanne (CHUV) during two years (1991 to 1992). The difficulty of clinical diagnosis, particularly in vascular and epileptic cases, the high percentage of focal neurological causes, the role of (underlying) dementia, drugs, systemic disturbances (fever, infections, dehydration, etc.) and the importance of etiology for prognosis are particularly stressed.

Acute Disease↗
PubMed1994

Multimodal electrophysiological studies including motor evoked potentials in patients with locked-in syndrome: report of six patients.

Clinical and electrophysiological findings in six patients with locked-in syndrome are reported. Motor evoked potentials (MEPs) after magnetic stimulation of the motor cortex were absent in four patients, none of whom recovered clinically. In two patients, MEPs could be obtained from the severely paretic limbs and almost full motor recovery followed. Somatosensory evoked potentials were altered in four of the patients, and brainstem auditory evoked potentials were altered in two of four patients examined, showing a clinically unsuspected tegmental involvement. The EEG showed a predominance of reactive alpha activity in all patients, documenting a preserved consciousness. It is concluded that a multimodal electrophysiological approach, in addition to clinical assessment, can be helpful in diagnosing locked-in syndrome, estimating the extension of the underlying brainstem dysfunction, and predicting functional outcome.

Adolescent↗
PubMed1993

Sensory syndromes in parietal stroke.

We studied 20 patients with an acute parietal stroke with hemisensory disturbances but no visual field deficit and no or only slight motor weakness, without thalamic involvement on CT or MRI and found three main sensory syndromes. (1) The pseudothalamic sensory syndrome consists of a faciobrachiocrural impairment of elementary sensation (touch, pain, temperature, vibration). All patients have an inferior-anterior parietal stroke involving the parietal operculum, posterior insula, and, in all but one patient, underlying white matter. (2) The cortical sensory syndrome consists of an isolated loss of discriminative sensation (stereognosis, graphesthesia, position sense) involving one or two parts of the body. These patients show a superior-posterior parietal stroke. (3) The atypical sensory syndrome consists of a sensory loss involving all modalities of sensation in a partial distribution. Parietal lesions of different topography are responsible for this clinical picture, which probably represents a minor variant of the two previous sensory syndromes. Neuropsychological dysfunction was present in 17 patients. The only constant association was between conduction aphasia and right-sided pseudothalamic sensory deficit. We conclude that parietal stroke can cause different sensory syndromes depending on the topography of the underlying lesion. Sensory deficits can be monosymptomatic but never present as a "pure sensory stroke" involving face, arm, leg, and trunk together.

Adult↗
PubMed1993

[Parasomnias].

Parasomnias are frequent. They usually represent either the exaggeration of a physiological phenomenon (e.g. sleep starts) or a non-disturbing, idiopathic and usually benign sleep disorder (e.g. sleep talking and bruxism), which need only counseling and improvement of sleep hygiene. However, occasionally parasomnias are of clinical relevance. They can cause insomnia or hypersomnia (e.g. 'myoclonus nocturnus'), psychosocial stress (e.g. sleep-related enuresis and sleep walking) and injuries to oneself and others (e.g. REM-parasomnia). Finally, they can be symptomatic of neurological and medical disorders (e.g. sleep paralysis and 'myoclonus nocturnus'). In these cases special investigations including video-polysomnography can establish a correct diagnosis and allow a specific treatment.

Bruxism↗
PubMed1990

[Prognostic value of electroencephalography in non-traumatic comas].

We recorded an EEG within the first few days of coma in 100 patients without history of trauma or drug intoxication, in 50 after cardiac arrest, and in 50 in coma of other, chiefly metabolic etiologies. The EEG findings were classified in 5 categories (I-V) in terms of increasing severity. We were especially interested in the question whether the degree of early EEG disturbances allows prognostic conclusions regarding the clinical fate of patients one month after the beginning of coma. It was found that very severe EEG changes (Grad IV-V) indicate a poor prognosis (death, persistent vegetative state or profound neurological deficits) in over 90% of coma both after cardiac arrest and of other etiologies. An EEG without very severe changes (grade I-III) does not allow definite prognostic conclusions. Depending on the etiology, recovery occurs in 10-33% of cases. The prognostic significance of certain EEG parameters can be summarized as follows: areactivity to external stimuli and the presence of an "alpha-coma" pattern are usually (but not necessarily) associated with a poor outcome. The same applies to coma patients with epileptiform patterns in the EEG and/or suffering from epileptic or myoclonic seizures. One-fourth of patients with triphasic EEG complexes recover completely.

Adolescent↗
PubMed1990

[Simulated epileptiform discharges during the replay of a lengthy EEG recording].

Reviewing a longterm-EEG magnet-recording on the video system of the play-back unit "Mobile Oxford Medilog 9000" EEG patterns appeared, which imposed as epileptiform discharges. They seemed to correlate with the paroxysmal clinical disturbances the patient had experienced and noted in a diary, and could be printed out on a normal EEG-apparatus. Following investigations demonstrated the artificial origin of this EEG patterns: They appeared in fact only using the switches of the play-back unit for the fast back- and forward winding. The time-correlation between clinical and electroencephalographic episodes was simulated by the search of selected EEG-sequences based on the clinical episodes noted from the patient.

Diagnostic Errors↗