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Biomedical subjects

S Fontaine

Publications and source records attributed to S Fontaine.

At least 19 recordsLinked to original sources

An unusual form of Riedel's thyroiditis: a case report and review of the literature.

We report the case of a 36-year old woman with a history of long-term fever associated with a biologic inflammatory syndrome that was not corrected by several courses of corticosteroid treatment. The only remarkable result during previous investigations was the presence of a positive Epstein-Barr virus (EBV) serology. Clinical examination revealed an heterogenous thyroid with a nodule on the right lobe. Serum thyrotropin (TSH) concentration was normal. The levels of antiperoxidase antibodies and thyrocalcitonin were normal. Ultrasound examination of the neck showed a 3-cm hypoechogenous nodule in the right lobe of the thyroid. A total thyroidectomy was performed. Histopathologic findings led to the diagnosis of Riedel's thyroiditis. We observed a dramatic improvement after surgery with absence of fever and normalization of inflammatory parameters. The role of EBV infection in the process of this unusual form of Riedel's thyroiditis is discussed.

Adult↗

Prenatal diagnosis and characterization of an analphoid marker chromosome 16.

We report on a fetus with intrauterine growth retardation and multiple malformations diagnosed on ultrasound at 32 weeks. Examination of amniotic fluid cells in culture showed a 47,XY, i(16)(q10), +mar karyotype. Chromosome analysis of both parents was normal. Using spectral karyotyping, we identified the marker chromosome as a mitotically stable acentric marker chromosome derived from chromosome 16. Further studies using subtelomeric fluorescent probes confirmed the presence of an isochromosome for the long arm of chromosome 16 and showed that the acentric marker chromosome derived from the short arm of chromosome 16 leading to a trisomy for the long arm of chromosome 16. After genetic counseling, the parents decided to terminate the pregnancy. Fetal autopsy showed a male fetus with ambiguous external genitalia, cardiac malformation, megacystis and limbs anomalies as observed in other cases of trisomy for the long arm of chromosome 16. In addition, fetal brain examination showed vermian and olfactory bulb hypoplasia.

Abnormalities, Multiple↗

Assessment of suspected dementia.

At the Second Canadian Consensus Conference on Dementia (CCCD) (February, 1998), a group of neurologists, geriatricians, and psychiatrists met to consider guidelines for evaluation of dementia in Canada. This review paper formed a background paper for their discussion of dementia diagnosis. These experts from across the country concluded that diagnosis of suspected dementia cases continued to rest on skilled clinical assessment. Mental status exam, preferably in some quantifiable form, has become an essential part of the assessment. Selected laboratory tests are advisable in all cases (CBC, TSH, electrolytes, calcium, and glucose), but the CCCD continued to advise that CT scanning was mandatory only in selected cases where clinical findings pointed to another possibility besides Alzheimer's disease. The growing list of other diagnostic measures with potential usefulness in diagnosis of Alzheimer's disease or dementia in general was reviewed, but the evidence was judged as insufficient to support routine use of these tests by physicians. As new treatments for Alzheimer's disease become available, neurologists face new diagnostic challenges--differentiating Mild Cognitive Impairment, Frontotemporal dementias and Mixed dementias, and Lewy Body Dementia. Guidelines to aid in differential diagnosis are presented.

Aged↗

Differentiating lumbar disc protrusions, disc bulges, and discs with normal contour but abnormal signal intensity. Magnetic resonance imaging with discographic correlations.

STUDY DESIGN: Independent evaluation by two observers of 132 lumbar discs in 45 patients with chronic low back pain investigated by both magnetic resonance imaging and discography. OBJECTIVES: To assess some of the fundamental differences between lumbar disc protrusions, disc bulges, and discs with normal contour but abnormal signal intensity on T2-weighted magnetic resonance images. SUMMARY OF BACKGROUND DATA: Moderate interobserver agreement has been reported when the morphologic terms normal, bulge, protrusion, and extrusion are used. The validity of this nomenclature remains unknown. METHODS: Discs were evaluated on magnetic resonance images for central and peripheral signal characteristics, height, contour, and nerve root compression. Discograms were classified according to degrees of disc degeneration, disruption, and pain reproduction. RESULTS: Loss of intervertebral height or abnormal signal intensity on magnetic resonance imagery was significantly associated with disc disruptions extending into or beyond the outer anulus on discograms. All 23 protrusions (100%) and 12 of 15 disc bulges (80%) were associated with Stage 2 or 3 anular disruptions and, in most instances, similar or exact reproduction of pain during disc injection. There was no significant difference between disc protrusions, disc bulges, and discs with normal contour but abnormal signal, with respect to degree of disc degeneration, extent of disruptions, or presence of discogenic pain. CONCLUSIONS: In patients with chronic low back pain, loss of disc height or abnormal signal intensity is highly predictive of symptomatic tears extending into or beyond the outer anulus. Disc bulges and disc protrusions do not represent discs with significantly different internal architecture, based on the findings of discography, and are no more suggestive of symptomatic tears than discs showing normal contour but decreased height or abnormal signal intensity.

Adult↗

Diagnosis of subtle focal dysplastic lesions: curvilinear reformatting from three-dimensional magnetic resonance imaging.

Focal cortical dysplasia is a frequent cause of medically intractable partial epilepsy. These lesions are being increasingly identified by high quality images provided by magnetic resonance imaging (MRI), resulting in improved seizure control of surgically treated patients. Small dysplastic lesions are often missed by conventional MRI methods. The identification of subtle structural abnormalities by rectilinear slices is often limited by the complex convolutional pattern of the brain. We developed a method of curvilinear reformatting of three-dimensional MRI data that improves the anatomical display of the gyral structure of the hemispheric convexities. It also reduces the asymmetric sampling of gray-white matter that may lead to false-positive results. We present 5 patients in whom conventional two-dimensional and three-dimensional MRI with multiplanar reformatting was initially considered normal. Subsequent studies using curvilinear reformatting identified lesions in all. Four patients underwent surgery with histological diagnosis of focal cortical dysplasia. Three patients are seizure-free and 1 had significant improvement in seizure control. These results indicate that an increase in the detection of subtle focal dysplastic lesions may be accomplished when one improves the anatomical display of the brain gyral structure by performing curvilinear reformatting.

Adolescent↗

History of Joubert syndrome and a 30-year follow-up of the original proband.

The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-recessive syndrome eponimically associated with the senior author, Marie Joubert. The disorder, though rare, is increasingly recognized and a lay society dedicated to family support and research has been formed. In preparation for a recent symposium the original proband was re-examined 30 years later and the manifestations in adults clarified. Severe dysarthria was the most striking feature in this man, the hyperpnea-apnea had diminished, and the abnormal eye movements were less striking. Ataxia was still present but not severe. Poor judgment and borderline intelligence rounded out the clinical picture. Modern imaging has clarified, in part, the anatomic basis of this syndrome.

Adult↗

[Role of transcranial ultrasonography in neuroradiological diagnosis].

Blood flow within the major arteries supplying the brain can be studied with transcranial Doppler sonography, a noninvasive, portable procedure. We describe the technique of examination, as well as indications in children and adults such as the investigation of intracranial stenosis, collateral pathways, vasospasm, cerebral emboli and arteriovenous malformations.

Adult↗

[Dissociations between music and language functions after cerebral resection: A new case of amusia without aphasia].

We present the neuropsychological study of a patient, I.R., who sustained bilateral damage to the temporal lobes and to the right frontal lobe as a result of successive brain surgeries that occurred ten years earlier. The patient is 40 years old and right-handed; she had no special training in music or in language, representing, therefore, the large majority of listeners. Her performance is compared to that of four neurologically intact subjects who are closely matched in terms of education, sex and age. In the present study, we report I.R.'s performance on various tests aiming at assessing her general cognitive functioning with a particular focus on auditory aspects. The results show that, despite extensive damage to her auditory cortex, I.R.'s speech abilities are essentially intact (see Tables 1 and 2). The only impairments that are detected in the language domain are related to a short-term memory deficit, to some abnormal sensitivity to retroactive interference in long-term memory (see Table 3) and to articulation. These difficulties do not, however, affect linguistic communication, which is obviously undisturbed I.R. is not aphasic). Similarly, I.R. does not experience any difficulty in the recognition and memorization of familiar sounds such as animal cries, traffic noises and the like (see Tables 5 and 7). In contrast, I.R. is severely impaired in most musical abilities: She can no longer discriminate nor identify melodies that were once highly familiar to her; she can no longer discriminate nor memorize novel melodies (see Table 4). Her pattern of musical losses is compatible with a basic and severe perceptual deficit that compromises access to and registration in memory systems. The observation that the auditory impairment affects music and spares language and environmental sounds refers to a neuropsychological condition that is known as music agnosia. I.R. represents, to our knowledge, the fourth case of music agnosia available in the literature (Peretz et al., 1994; Griffiths et al., 1997). The existence of such cases suggests that music processing is not mediated by a general-purpose auditory architecture but by specialized cortical subsystems. Not only does I.R. suffer from music agnosia, but she is also impaired in the discrimination and recognition of musical instruments and of human voices (see Table 5). These latter two deficits probably do not result from the music agnosic condition. Rather, they seem to reflect damage to adjacent brain areas that are specialized in timbre processing (see Peretz. et al., 1994, for the relevant discussion). It is also worth mentioning that I.R. appears to be impaired in musical expressive abilities as well: I.R. can no longer sing a single note. Thus, her losses are rather general in the musical domain, hence justifying the classification of her case as amusia. Cases of amusia without aphasia are relatively frequent in the neuropsychological literature. However, all of these reported cases are anecdotal. Thus, in the present study, special focus is given to the measurement and direct comparison of performance in the language and music domain; in both domains, task characteristics and materials were as similar as possible. To this aim, the lyrics and the tune of the same popular song excerpts were used. The musical and the spoken parts were presented separately in a primed familiarity decision task and in a memory recognition task. In both situations, I.R. performs at or close to chance when she has to deal with music, whereas she recognizes easily and performs normally on the spoken material (see Tables 6 and 7). These results clearly argue for the autonomy of music and language in the processing of auditory information.

Adult↗

Increased blood manganese in cirrhotic patients: relationship to pallidal magnetic resonance signal hyperintensity and neurological symptoms.

Increasing evidence suggests that manganese deposition is responsible for the T1-weighted magnetic resonance imaging (MRI) signal hyperintensity consistently observed in pallidum of cirrhotic patients. However, the relationship between blood manganese and the etiology or severity of liver disease, as well as the neurological symptomatology in these patients, has not been well established. In the present study, blood manganese concentrations were measured by atomic absorption spectrometry together with MRI and neurological evaluation in 57 cirrhotic patients with various etiologies and severity of liver disease. Blood manganese concentrations were elevated in 67% of cirrhotic patients and were significantly higher in patients with previous portacaval anastomoses or transjugular intrahepatic portosystemic shunt (TIPS). Pallidal signal hyperintensity was observed in 88% of patients, and significant correlations were demonstrated between blood manganese and pallidal index (PI) (a measure of pallidal signal hyperintensity), as well as Child-Pugh score. Assessment of extrapyramidal symptoms using the Columbia rating scale revealed a significant incidence of tremor, rigidity, or akinesia in up to 89% of cirrhotic patients. However, there was no significant correlation between blood manganese and extrapyramidal symptoms, although severity of akinesia was significantly greater in Child-Pugh C patients. Extrapyramidal symptoms could result from a toxic effect of manganese on basal ganglia dopaminergic function. These findings further support a role for manganese in the etiology of pallidal MRI signal hyperintensity in patients with chronic liver disease.

Adult↗

Clinical impact of contrast-enhanced MR imaging reports in patients with previous lumbar disk surgery.

OBJECTIVE: We wanted to assess the clinical impact of the reports of contrast-enhanced MR imaging on the decision to repeat surgery and on the results of repeat surgery in patients with previous lumbar disk surgery. SUBJECTS AND METHODS: We interviewed 257 patients who had undergone lumbar disk surgery and who showed symptoms suggesting persistent or new disk herniation. We conducted our interviews 6-18 months after patients had undergone contrast-enhanced MR imaging. We then correlated patient outcome with original MR findings. RESULTS: Fifty-two patients underwent new surgical procedures after their MR examination. Findings of disk herniation on MR images were associated with a significantly greater frequency of repeat surgery. The size of main herniation seen on MR images was also a significant variable. Patients with Worker's Compensation Insurance files had significantly worse prognoses: Only two (8%) of 26 of these patients reported 50% improvement 1 year after repeat surgery. However, only 6 (23%) of 26 non-Worker's Compensation patients reported 50% improvement 1 year after surgery. CONCLUSION: Despite its documented high anatomic accuracy, the clinical usefulness of enhanced MR imaging for patients with previous lumbar disk surgery needs further evaluation. In our series, findings of disk herniations on enhanced MR examinations were associated with a greater frequency of repeat surgery, but such surgery relieved symptoms in few patients. The influence of enhanced MR imaging on the decision for repeat surgery and on the type of surgery may be misleading. Selection criteria for repeat surgery need to be reassessed using rigorous outcome research protocols.

Adult↗

Manganese toxicity, dopaminergic dysfunction and hepatic encephalopathy.

Patients with chronic liver disease manifest a high incidence (> 75%) of pallidal signal hyperintensity on T1-weighted Magnetic Resonance Imaging (MRI), the intensity of which correlates with blood manganese levels and the presence of extrapyramidal symptoms. A major cause of pallidal hyperintensity on T1-weighted MRI is manganese deposition; chronic manganese intoxication in the absence of liver disease results in pallidal MR signal hyperintensity, in extrapyramidal symptoms and in selective effects on the dopaminergic neurotransmitter system in basal ganglia. Direct measurements in globus pallidus obtained at autopsy from patients with chronic liver disease who died in hepatic coma reveal 2 to 7-fold increases of pallidal manganese and a concomitant loss of dopamine D2 binding sites. Liver transplantation results in normalization of pallidal MR signals and of blood manganese levels. These findings suggest that (1) pallidal MR signal hyperintensity in patients with chronic liver disease is the result of manganese deposition and (2) alterations of dopaminergic function due to the toxic effects of manganese may contribute to the extrapyramidal symptoms in these patients.

Dopamine↗

ras may mediate mammary cancer promotion by high fat.

High fat consumption has been implicated as a risk factor for breast cancer. Experimental mammary carcinogenesis studies have demonstrated that the effect of high fat consumption is mainly exerted on the postinitiation stage of the disease process. We report data that have recalled in the formulation of a new hypothesis about the effect of dietary fat on mammary carcinogenesis, namely, that it promotes the development of a subpopulation of cells lacking a specific pathogenetic characteristic. In comparison with animals fed a low-fat diet, female Sprague-Dawley rats fed high-fat diets during the promotional stage developed significantly more (number and proportion) 1-methyl-1-nitrosourea-induced mammary adenocarcinomas that did not contain a codon 12 GGA-->GAA mutation in the c-Ha-ras protooncogene. The effect was independent of the types of fat fed, i.e., corn oil vs. fish oil. A model is presented to account for the preferential promotional effect of high fat consumption on 1-methyl-1-nitrosourea-initiated mammary epithelial cells. The hypothesis that the level of dietary fat consumed affects the proportion of mammary carcinomas that occur with a particular pathogenetic characteristic, in this case, the presence or absence of a Ha-ras point mutation, has important implications on the direction of future investigations concerning fat and cancer risk.

Adenocarcinoma↗

Radiating pain to the lower extremities caused by lumbar disk rupture without spinal nerve root involvement.

PURPOSE: To locate the origin of the pain during lumbar diskography by means of a limited intradiskal injection of a local anesthetic. METHODS: Lumbar diskography by the direct central posterior approach was performed in 235 consecutive patients. In 17 patients, severe and persistent low back pain, with unilateral or bilateral radiation to the lower extremities, was provoked by contrast injection into only one disk. One milliliter of 1% lidocaine was then slowly injected in the center of these disks. RESULTS: A 75% to 100% reduction of the low back pain was experienced by 13 patients, and a 75% to 100% reduction of the radiating pain was experienced by 16 patients within 60 seconds after the intradiskal injection of lidocaine. Radiographs demonstrated radial tears through the entire annulus thickness in 16 of 17 disks. CONCLUSION: Our results suggest that, in some patients with low back pain and unilateral or bilateral radiation to the lower extremities, the pain arises from within the disk. In these cases, pain radiating to the lower limb seems to be a referred type and seems unrelated to direct nerve root compression or irritation by a disk fragment in the epidural space.

Adult↗

Case report: primary mesenchymal chondrosarcoma of the brain.

We report an 11-year-old girl with a very rare tumour, mesenchymal chondrosarcoma of the brain, presenting as a haemorrhagic stroke, in whom angiography originally showed a distal arterial aneurysm. One month later MRI showed a solid tumour in addition to evidence of haemorrhage, and angiography then demonstrated pathological vascularity. The diagnosis was made following craniotomy.

Brain Neoplasms↗

Development of the fetal brain in the second trimester: an anatomic and ultrasonographic demonstration.

The authors provide an anatomic and ultrasonographic description of the fetal brain from the 16th to the 27th week of development. During the second trimester the primitive brain is smooth and homogeneous and has few sulci and relatively large lateral ventricles. The cerebral hemispheres consist largely of cells migrating from the periventricular germinal matrix to the primitive cortex. The "featureless" hemispheres yield homogeneous ultrasonographic images very different from the more complex and familiar cerebral anatomy of fetuses and premature babies in the third trimester.

Brain↗

[Transcranial Doppler ultrasound].

Over the last decade, transcranial Doppler examination of the cerebral vessels has been made possible by the development of a high-intensity, low-frequency (2 MHz) pulse probe. The middle, the anterior and the posterior cerebral arteries, the cavernous portion of the carotid artery and the basilar artery can thus be easily studied transtemporally or transorbitally or from below the foramen magnum. The transcranial Doppler examination is already used clinically to study arteriosclerosis and in the diagnosis and follow-up of vasospasm and arteriovenous malformations. This review describes the examination procedure and summarizes and illustrates its major indications.

Basilar Artery↗