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Biomedical subjects

M B Delisle

Publications and source records attributed to M B Delisle.

At least 55 records · Page 3Linked to original sources
PubMed1998

Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.

Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake-sleep cycle, dysautonomia and somatomotor manifestations (myoclonus, ataxia, dysarthria, spasticity). PET studies disclose severe thalamic and additionally cortical hypometabolism. Neuropathology shows marked neuronal loss and gliosis in the thalamus, especially the medio-dorsal and anterior-ventral nuclei, olivary hypertrophy and some spongiosis of the cerebral cortex. Detailed analysis of 14 cases from 5 unrelated families showed that patients ran either a short (9.1 +/- 1.1 months) or a prolonged (30.8 +/- 21.3 months) clinical course according to whether they were homozygote met/met or heterozygote met/val at codon 129. Moreover, homozygotes had more prominent oneiric episodes, insomnia and dysautonomia at onset, whereas heterozygotes showed ataxia and dysarthria at onset, earlier sphincter loss and epileptic Grand Mal seizures; they also displayed more extensive cortical involvement on PET and at postmortem examination. Our data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein-gene.

Adult↗
PubMed1998

Neuronal apoptosis in fatal familial insomnia.

The possibility that neuronal loss in prion diseases occurs through an apoptotic process has been postulated and is consistent with the lack of inflammation in these disorders. In order to test this hypothesis in FFI, in which neuronal loss is the predominant neuropathological feature, we examined samples of thalamus, basal ganglia, cerebral cortex, cerebellum and medulla from 10 subjects with FFI. All the patients had the characteristic 178 N mutation of the PrP gene. Eight subjects were homozygous methionine/methionine at codon 129 and 2 were heterozygous methionine/valine. Apoptotic neurons were identified by in situ end labelling in all the FFI cases and in none of the controls. They were mostly found in damaged regions and their presence and abundance seemed to correlate closely with the neuronal loss. They were particularly abundant in the thalamus and medullary olives. In heterozygous cases who had a longer disease duration and more widespread cerebral changes, apoptotic neurons were also found in the neocortex and striatum. The abundance of apoptotic neurons also correlated well with microglial activation as demonstrated by the expression of major histocompatibility complex class II antigens. PrPres immunostaining was almost invariably negative, consistent with previous data showing the lack of obvious correlation between neuronal loss and PrPres deposits in prion diseases.

Adult↗
PubMed1998

Correlation of desensitisation of platelet activating factor (PAF) receptors with intensity of inflammation and intestinal PAF content during experimental ileitis in guinea pig.

AIM: To determine the kinetics of platelet activating factor (PAF) and prostaglandin E2 (PGE2) receptor desensitisation during intestinal inflammation induced by trinitrobenzenesulphonic acid (TNB) instillation and to study the relation between receptor regulation, inflammatory lesions, and PAF content of the gut wall. METHODS: Receptor desensitisation was assessed on isolated smooth muscle cells from the circular layer. PAF content of the intestinal wall was determined by thin layer chromatography and radioimmunoassay. RESULTS: After an acute inflammatory phase on day 1, subacute changes appeared in TNB instilled ileum, with a maximal intensity on day 6. In control animals, PAF 10 nM and PGE2 10 nM provoked a maximal contraction in the range of 24% of cell shortening. On days 1 and 3 after intestinal instillation of TNB, PAF induced contraction was not altered whereas the effect of PGE2 was progressively desensitised (2 logM rightward shift of its concentration-response curve: Cmax = 1 microM; p < 0.01). Between days 4 and 6, the concentration-response curve of PGE2 shifted by only 1 logM (p < 0.05) whereas the curve of PAF induced contraction shifted by 2 logM (Cmax = 1 microM; p < 0.01). The PAF content of the ileal wall was maximal between days 3 and 5 (300 ng/mg tissue). On days 10 and 15, PAF and PGE2 induced contractions were similar to those observed on day 1, and PAF content returned to basal. CONCLUSION: Inflammation induced by TNB instillation triggers PAF and PGE2 receptor desensitisation; this is dependent on the duration of inflammation and correlates with PAF content in the ileum. This receptor desensitisation may play a protective role by preventing overstimulation of intestinal smooth muscle cells.

Acetylcholine↗
PubMed1998

[Adenoid cystic carcinoma of the larynx. A case report and review of the literature].

Laryngeal adenoïd cystic carcinoma (ACC) is a rare disease due to the poor distribution of the accessory salivary glands in this area. The authors describe a case of ACC arising from the sus glottic area and underline the difficulty of such a diagnosis, which is in fact an histologic finding. The signs of discovery of a laryngeal ACC are not different from other tumors of the area, except pain frequently evoked in these tumors. Laryngeal ACC arises exceptionally before the age of 20 years and no risk factor is known. The most frequent localization is in the sub-glottic area, but sus glottic and glottic localizations have been reported. Evolution is marked by the onset of cervical lymph adenopathies and systemic metastasis most often located in the lung. The treatment comprises wide surgical exerisis followed by radiotherapy. Other reports seem to indicate that the pronostic of the laryngeal location of this disease is worse than in other areas of the head and neck.

Aged↗
PubMed1997

Expression of SKP1 mRNA and protein in rat brain during postnatal development.

We previously isolated the cell cycle element SKP1 as a candidate plasticity gene in the rat visual cortex. Here, we studied the expression and localization of SKP1 mRNA and protein in rat brain. We found a high level of expression for the SKP1 gene in the cortex at different postnatal ages. SKP1 mRNA levels remained stable from P2 (postnatal day 2) to adulthood. SKP1 mRNA expression was also detected in several other brain areas. Skp1p (SKP1 protein) immunohistochemistry showed nuclear staining in a large majority of neurones. The pyramidal cells in the hippocampus, as well as cortical cells were stained. The presence of Skp1p in post-mitotic neurones suggests that this protein is involved in processes other than the cell cycles other target proteins and functions in neurones are currently under investigation.

Animals↗
PubMed1997

[Malignant endovascular large-cell lymphoma: disclosing central nervous system involvement confirmed by cerebral biopsy].

Intravascular malignant lymphomatosis (IML) is characterised by proliferation of tumoral cells within small vessels. Angiotropic large cell lymphoma commonly affects the central nervous system and the skin, although any organ may be involved. Few cases are diagnosed ante mortem. We report a new case of IML in a 62-year-old woman who presented with the main clinical features of central nervous system involvement: cerebrovascular events, epileptic seizures, subacute dementia and spinal cord syndrome. Cranial magnetic resonance imaging demonstrated increased periventricular signal on T2-weighted images. Diagnosis was established by brain biopsy. Despite corticosteroid and radiation therapy no improvement occurred and the patient died 14 months after the onset of the first symptoms.

Biopsy↗
PubMed1997

[Fatal familial insomnia: phenotypic changes determined by polymorphism of the codon 129].

We report a new case of fatal familial insomnia, characterized by mutation of codon 178 of prion protein gene and by methionine homozygosity at codon 129. This homozygotic form is revealed by severe insomnia and dysautonomia. Microscopic lesions, neuronal loss and gliosis, are limited to a part of the thalamus (dorso-median and anterior nuclei). From genetic analysis of a blood stain, retrospective diagnosis of fatal familial insomnia was made on the patient's mother who died three years earlier with clinical features suggestive of Creutzfeldt Jakob disease. In her case the mutation of the codon 178 was associated with the methionine/valine heterozygosity at codon 129. This genotypic polymorphism may account for conformation variation of prion protein isoform that could explain clinical and pathological differences.

Adult↗
PubMed1997

[Prenatal diagnosis of holoprosencephaly. A series of twelve cases].

OBJECTIVE OF THE STUDY: To determine the prenatal ultrasound criteria of holoprosencephaly and their correlation with embryogenesis. MATERIAL AND METHODS: We report 12 cases of holoprosencephaly that have been discovered between January 1990 and June 1996 (eleven alobar holoprosencephalies and one semilobar holoprosencephaly) at La Grave Hospital, Toulouse. RESULTS: In all cases, severe facial anomalies have been (cyclopia, cebocephaly or ethmocephaly). Prenatal ultrasound diagnosis was based on the association of brain anomalies (wide monoventricular cavity, thalami fusion, lacking of median structures) and facial dysmorphia (hypotelorism, orbital anomalies, median cleft lip ...). Finding microcephaly was a frequent sign of holoprosencephaly (64% of all cases). Chromosomal abnormalities have been found in 36% of the fetuses (Trisomy 13 is the most common). All patients underwent therapeutic abortions. CONCLUSION: Transvaginal sonography diagnosis can be made around the 14th to 16th week amenorrhea. An early diagnosis allows an easier pregnancy termination, when such severe anomalies are found. In order to provide genetic counseling, a cytogenetic study of the fetus is necessary.

Abortion, Therapeutic↗
PubMed1997

[Fissured leiomyosarcoma of the descending thoracic aorta. Apropos of a case and review of the literature].

The authors report a case of leiomyosarcoma of the descending thoracic aorta presenting with dissection and operated as an emergency. Palliative repair from the oncological point of view comprised the insertion of an aorto-aortic tube. Local radiotherapy was completed by a course of chemotherapy controlling multiple bone and adrenal metastases at 15 months. A review of the literature did not reveal any other cases of haemorrhagic leiomyosarcoma of the descending thoracic aorta. Histological findings were similar to those of the reported case as were the therapeutic attitudes to limit or extinguish disseminated metastases explained by the arterial character of the tumour.

Aorta, Thoracic↗
PubMed1997

[Pseudotumor forms of neurosarcoidosis in children. Diagnostic difficulties and therapeutic management].

In systemic sarcoidosis, neurologic manifestations are possible and occurred in 5 p. 100 of cases. The diagnosis is easier when sarcoiddosis is known, but in half case neurologic symptoms are inaugural. In these cases, involvement of other sites (liver, lung, eyes or skin) by the disease is needed to confirm sarcoidosis. Main manifestations in neurosarcoidosis are cranial nerve palsy, diabetes insipidus or chronic aseptic meningitis, but sometimes sarcoidosis can present as an intracranial mass. The diagnosis of neurosarcoidosis may be difficult and could be confused with infection (such tuberculosis or mycosis), with inflammatory diseases (such multiple sclerosis) or with neoplasm, particularly in case of oedema. Brain biopsy may be necessary in isolated neurosarcoidosis if no peripheral histology evidence of noncaseating granulomas has been obtained. Treatment with steroids alone is the best choice for initial therapy but must be prolonged. It is difficult to predict accurately the response to steroids and relapse may be possible after a long time. Other immunosuppressive therapeutics or radiotherapy have been used in patient with refractory neurosarcoidosis. Sequential magnetic resonance imaging is the useful mean for the follow-up of neurosarcoidosis.

Adolescent↗
PubMed1996

[Multiple cerebral telangiectasias. Apropos of an anatoma-radioclinical case].

UNLABELLED: Telangiectasias are vascular malformations corresponding to dilated capillary separated by nervous parenchyma. They are generally asymptomatic and discovered during autopsy. CASE REPORT: We describe the case of a 2-year-old girl who was admitted for drowsiness and vomitings with craniomegaly and right hemiparesis. The cerebral imaging demonstrated large amounts of calcium in the region of pons and left thalamus with a contrast enhancement throughout these calcifications. The thalamic lesion was cystic with obstruction of the third ventricle and hydrocephalus. There were multiple calcifications scattered throughout the basal ganglia and the white matter. The latter had a low density on CT and high signal intensity on MRI (T2). The cerebral angiographic study showed a blush in the pons and the thalamus. Clinical course was fluctuating or intermittently progressive. Finally, in spite of radiotherapy and oral corticosteroid treatment, the child became quadriparesic with oculomotor palsy. She suddenly died at age 4 years and 6 months from a hemorrhage of the pons. Neuropathological study showed two clusters of telangiectasias with calcifications in the pons and the thalamus. Other calcified vascular malformations were seen in the white matter and the basal ganglia. Near the lesions, astrocytar gliosis and edema were observed. The white matter was malacic with isolated calcifications. CONCLUSION: Cerebral telangiectasias may be multiple and may produce severe neurologic disorders, occurring in infancy with fluctuating clinical course. Arteriography may show these usually cryptic vascular malformations. This diagnostic should be kept in mind in view to the neuroradiological aspect we report here.

Basal Ganglia↗
PubMed1996

[Congenital variant of type IV glycogenosis. Anatomoclinical report of a case].

Type IV glycogenosis or Andersen disease is characterized by a deficiency in branching enzyme. This rare disease is exceptionally seen at birth. The clinico-pathological data are then typical: severe hypotonia with hypoventilation and cellular storage, without any hepatosplenomegaly. The stored material is PAS positive, sometimes made of crystals and appeared birefringent under polarized light. Granulo-filamentous inclusions are shown by electron microscopy, essentially observed in muscle and liver without cirrhosis. Death occurs rapidly. The present case was typical. It is the eleventh reported case in the literature.

Female↗
PubMed1996

[Low-grade papillary adenocarcinoma of the endolymphatic sac. Report of three cases with immunohistochemical study].

Glandular tumors involving the mastoid and the middle ear are rare, and distinguishing between adenoma and adenocarcinoma remains difficult. Among these latter lesions, two distinct patterns are accepted. One of them, the papillary form takes a more aggressive course with wider regional spread and must be separated from the other type, the middle ear carcinoma. Its microscopic appearance and clinical course have been extensively described by Heffner who considered it as "low-grade adenocarcinoma of probable endolymphatic sac origin". A few cases have been associated with von Hippel-Lindau disease. Three cases of papillary adenocarcinoma of endolymphatic sac origin are reported. One concerned an isolated tumor, the two others were associated with von Hippel-Lindau disease. Their clinical, pathological and immunohistochemical data are presented.

Adenocarcinoma, Papillary↗
PubMed1995

Is camptocormia a primary muscular disease?

STUDY DESIGN: This study analyzed computed tomographic scans, magnetic resonance images, and biopsies of the paravertebral muscles of patients with camptocormia and age-matched patients with lumbar interapophyseal osteoarthritis or lumbar vertebral stenosis. OBJECTIVES: To define the muscular lesions and clarify their nature in this particular disorder. SUMMARY OF BACKGROUND DATA: Progressive lumbar kyphosis or camptocormia, a rare disease of the elderly characterized by inability to immobilize the lumbar spine in relation to the pelvis appears to be a result of weakness of the paraspinal muscles. The features presented by these patients do not correspond to any myopathy previously described. METHODS: Twenty-seven patients (5 men and 22 women) mean age 69 years, with camptocormia were compared to fifteen age-matched patients without camptocormia but with posterior interapophyseal osteoarthritis and to nine elderly patients operated for narrowing of lumbar canal. Computed tomographic scans, magnetic resonance images, light microscopy, histochemistry, and electron microscopy of paraspinal muscles were obtained in both groups. RESULTS: In patients with camptocormia, computed tomographic scans and magnetic resonance imaging showed heterogeneous appearance of the spinal muscles with areas of low density. These features were distinct from those of patients with interapophyseal osteoarthritis and were similar to the features described in primary muscular dystrophies. The main microscopic change in camptocormia was the increase of fibrous tissue, frequently with a lobular pattern, not seen in osteoarthritic patients. Familial history of the disorder was frequent (20 out of the 27 patients). CONCLUSION: Camptocormia, disappearing in the recumbent position, is thus very probably linked to muscle involvement. That there is often a family history of such disorder is in favor of a genetically transmitted condition. Magnetic resonance images and computed tomographic scan appearance seems to be in favor of primary muscular disease, restricted to the spinal muscles.

Aged↗
PubMed1995

Mixed desmoplastic primitive neuroepithelial tumor of infancy: a light microscopic, immunocytochemical, ultrastructural and genetic study.

We describe a case of a desmoplastic brain tumor which was initially resected from the right fronto-temporal region in a 2 year-old boy. This nodular, calcified tumor was vascularized by the internal carotid artery and the middle meningeal artery branches. Grossly, it contained several mucoid cysts. Light microscopy showed cords or nests of small cuboidal cells surrounded by a loose connective tissue and desmoplastic areas containing fibers and spindle cells. The cuboidal cells expressed epithelial, neuronal and neuroendocrine markers. Some foci of spindle cells showed glial differentiation. The tumor recurred 16 months later and displayed some characteristics of the small cell neuroepithelial component, mitoses being conspicuous. Electron microscopy revealed undifferentiated clear cells, some containing neurosecretory granules. Karyotyping demonstrated the following formula: < 15 > 46, t(8;11) (q13; q11). The chromosome 11 breakpoint was different from that described in Ewing's sarcoma. This isolated translocation has not been previously reported to our knowledge. These unusual features lead us to report this case and to discuss its pathogenesis.

Antibodies↗
PubMed1995

Calciphylaxis in a chronic hemodialysis patient with protein S deficiency.

Vascular calcifications are common in uremic patients whereas calciphylaxis is rare. We report the case of a 45-year-old woman on chronic hemodialysis since 1977. She had a subtotal parathyroidectomy in 1985, aortic and mitral valve replacement in 1986, and has been treated since then with nicoumalone. In June 1991, she presented with repeated, painful cutaneous necrosis suggesting panniculitis. A skin biopsy showed lobular panniculitis and evidence of calciphylaxis. There was an obvious biological hyperparathyroidism. Protein C functional level was in the normal range whereas protein S functional level was low, i.e. 42%. The patient underwent cervical surgery to remove two parathyroid glands, and daily hemodialysis sessions. Despite this treatment, cutaneous necrosis progressed with superinfection. A few weeks later, the patient died from a septic shock after a myocardic infarction. Necropsy was not performed.

Calciphylaxis↗