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Biomedical subjects

J F Foncin

Publications and source records attributed to J F Foncin.

At least 55 records · Page 3Linked to original sources

[Intramedullary neurenteric cyst without an associated malformation. Case report].

The authors report a case of an intramedullary neurenteric cyst without any associated dysraphic lesion. Unlike extramedullary intradural forms, this type of malformation remains rare. Our observation is one of the first to have been evaluated by magnetic resonance imaging. Theories concerning the embryogenesis of neurenteric cysts as well as their clinical characteristics and surgical treatment are discussed.

Adult↗

Temporal arteritis revealed by upper limb gangrene.

An 80-year-old white man presented with gangrenous lesions involving several distal phalanges of his left hand and an elevated erythrocyte sedimentation rate (ESR). Temporal artery biopsy showed patchy destruction of the internal elastic lamina by mononuclear cell infiltration, consistent with the diagnosis of temporal arteritis. After amputation of gangrenous lesions, he was discharged taking prednisone (60 mg/day). Twelve months after discharge there was no recurrence of ischemic manifestations and ESR was normal. Association of digital gangrene and elevated ESR should alert the clinician toward this diagnosis once other diseases such as atherosclerosis, scleroderma, lupus erythematosus, periarteritis nodosa have been ruled out.

Aged↗

[Absence of a close linkage between Alzheimer's disease and the polymorphic probe coding for superoxide dismutase 1].

The hypothesis of a tight linkage between Alzheimer's disease (AD), a presenile dementia, and the probe coding for superoxide dismutase 1 (SOD 1), located on chromosome 21 at 21q22, has been investigated in a large family originating from Calabria, in which AD is transmitted as an autosomal dominant mendelian trait. Analysis of the Msp I restriction polymorphism, after molecular hybridization with the probe of DNAs coming from 22 subjects of the pedigree, allowed to the demonstrate that there wasn't any tight linkage between AD and the marker studied.

Alleles↗

[EGF receptors (epidermal growth factor) and steroid receptors in human meningioma].

Epidermal growth factor receptor (EGF-R) were assayed by 125I-EGF binding in 28 surgical samples of human meningiomas. High affinity EGF-R were found in 26/28 tumors (92 p. 100) at concentrations ranging from 20 to 410 femtomoles per mg of membrane protein (fmol/mg prot. mb.). In 18/26 cases (64 p. 100), the EGF-R concentration was between 95 and 230 fmol/mg prot. mb. No relationship was found between the EGF-R level and the site or histopathology of the tumor. The only noticeable observations were the low levels of EGF-R in the 3 anaplasic meningiomas as compared to the whole population and the undetectable level of EGF-R in the angiomatous tumors. In addition, no correlation was found between EGF-R levels and the hormonal status of the patients, nor between EGF-R levels and the intratumoral concentration of progesterone receptors assayed simultaneously. The biological relevance of EGF-R in meningioma is discussed in this context.

Adult↗

[Immunocytochemical study at the ultrastructural level of neurofibrillary degeneration in Alzheimer's disease].

Paired Helical Filaments (PHF), as demonstrated at the ultrastructure level, are one of the main pathological landmarks of Alzheimer's disease (AD). A polyclonal rabbit antiserum raised against PHF had been shown to label tangles and the periphery of plaques at the light microscope level. The same antiserum labels PHF specifically at the ultrastructure level, as demonstrated with a postembedding immunogold technique. Normal cytoskeleton constituents and plaque amyloid were not labelled. Specific labelling of a characteristic landmark may be a clue for a biological marker of AD.

Alzheimer Disease↗

[Absence of linkage between Alzheimer's disease and the HLA system].

The study of a family in which multiple cases of Alzheimer's disease occurred in several generations offers the opportunity to test the genetic transmission of this disease. The HLA grouping of the members of a pedigree containing 10 affected members allowed to demonstrate that the disease is not due to a single dominant gene linked to the major histocompatibility complex. Although a more complex involvement of the major histocompatibility complex cannot be totally ruled out it is obvious that a strong linkage does not exist between Alzheimer's disease and HLA.

Alzheimer Disease↗

[Absence of a connection between Alzheimer's disease and complement markers].

The hypothesis of a linkage between Alzheimer's disease (AD) (presenile dementia) and the complement components C2, C4, Bf linked to the Major Histocompatibility Complex has been investigated in a large family originating from Calabria, in which AD is transmitted as an autosomal dominant monogenic mendelian trait. The analysis of complotypes of 33 members of a pedigree, from which 10 individuals are affected, allowed to demonstrate that there wasn't any linkage between AD and those markers. Furthermore, no complete or partial deficiency in the C2, C4, Bf components has been observed in affected patients.

Alzheimer Disease↗

[Origin of acoustic neuroma].

Acoustic neurinomas are vestibular schwannomas. Ultramicroscopic examination of the root of these tumors, removed using a petrosal approach (translabyrinthic, suprapetrosal) in 20 cases, investigated the site of origin of the schwannoma. Tumoral capsule was absent between Scarpa's ganglion cells and tumoral cells, these two types of cells being intermingled. The fact that the very small tumors, 3 to 5 mm in diameter, were all derived from Scarpa's ganglion and were separated by a capsule from the other structures of internal auditory canal prove that acoustic neurinoma arises from Scarpa's vestibular ganglion. Other studies have shown the absence of myelin surrounding bodies of Scarpa's ganglion cells in humans, inversely to findings in other vertebrates. Since on the one hand the appearance in humans is similar to that observed during development of Scarpa's ganglion in the rat, and on the other hand acoustic neurinoma has never been demonstrated in the animal, it can be suggested that acoustic neurinoma development in humans corresponds to cellular immaturity of Scarpa's ganglion.

Cranial Nerve Neoplasms↗

[Lymphomas and AIDS].

We report 21 cases of lymphomas associated with AIDS. Sixteen cases are Non Hodgkin's lymphomas of high grade malignancy. Immunoblastic B cell lymphomas are frequent: 11 cases/16, especially with extra nodal localisations. Three cases are Burkitt's lymphoma; 2 cases are large non cleaved cell lymphoma. Five cases of Hodgkin's disease are associated with AIDS related complex syndrome (ARC) showing the interest of lymph node biopsy in such patients. We analyzed 6 cases with lymphoid bone marrow infiltration and discuss the relationship between prelymphomatous states and low grade malignant lymphomas in AIDS or ARC patients.

Acquired Immunodeficiency Syndrome↗

[Alzheimer's presenile dementia transmitted in an extended kindred].

Forty-three patients affected with Alzheimer's disease were identified in a kindred of Italian origin, emigrated in part to the U.S.A. and France. Thirteen were known by history, 21 by medical record, and 9 by personal examination, of whom 5 were confirmed histopathologically. The clinical picture was fairly uniform: the first symptom was memory loss beginning around age 40. Psychotic-like symptoms often followed, with rapid evolution into profound dementia, and death around age 50. Akinesia was prominent at a late stage, often with myoclonus. Grand mal seizures sometimes occurred, with occasional interictal spike and wave discharge; repetitive paroxystic periodic discharges were never recorded. A genealogical study, as far as possible free from line bias, has been conducted mainly by analysis of municipal records. 1 435 subjects in 10 generations, linked to affected subjects through ascent/descent or marriage, were listed in a computer file; the corresponding genealogical tree or selected part thereof are generated by computer. Application of Bayesian techniques to demographic data makes possible an estimation of disease probability in subjects for which no clinical data were available: such an estimate was confirmed by the later discovery of a living patient in descent of a subject with 0.7 estimated disease probability. No patient was found in descent from an inbred union known as such. Patients are the only transmitters. The sex ratio is not significantly different from 1. There is no detectable maternal effect. The segregation ratio, as calculated from extensively known sibships, lies in the range 0.65 to 0.89; the lower value itself is significatively higher than the 0.5 value expected in an autosomal dominant monogenic Mendelian transmission. An environment factor is ruled out by the diversity of locations and circumstances in kindred members. Such a kindred may represent an useful model for fundamental studies in Alzheimer's disease and senile dementia of the Alzheimer type.

Adolescent↗

Cerebral edema associated with meningiomas: possible role of a secretory-excretory phenomenon.

A retrospective study of cerebral edema in 40 patients with intracranial meningiomas seems to demonstrate that the extent of edema is not related to anatomical factors such as location. Histological type is more significant; cerebral edema is usually observed with meningothelial forms. Furthermore, the study of tumor cells by electron microscopic methods indicates that secretory-excretory activity is closely associated with with the production of peritumoral edema. The ultrastructural aspects of this secreted material are described, but further biochemical studies are necessary to determine its exact nature. The possible role of tumoral steroid receptors in the secretory-excretory phenomenon is discussed.

Brain Edema↗

[Baló's concentric sclerosis].

A clinico-pathological case of concentric sclerosis (Baló type) is reported. A 30-year-old man experienced dizziness, nausea and vomiting. Twelve days later he developed gait disturbances. Neurological examination showed broad based gait, brisk tendon reflexes, bilateral extensor plantar responses, right hemihypoesthesia, cerebellar dysmetria, and a left lateral gaze palsy. CSF examination showed, 520 mg p. 100 ml protein, 7500 red blood cells, 31 lymphocytes and 9 polymorphonuclear leukocytes/mm3, 18 p. 100 gammaglobulin. Three CT scans were performed and showed a round hypodensity in the parieto-occipital white matter with contrast enhancement on one occasion, and several other hypodensities in the contralateral parieto-occipital white matter and in both frontal lobes. 23 days after the onset of the disease, the patient became comatose. A cerebral biopsy was obtained from one of the frontal lesions. He died from aspiration bronchopneumonia 2 months after the first signs. Neuropathological examination showed numerous concentric zones of demyelination which involved the white matter of both hemispheres, brain stem, and cerebellum. On light microscopy sudanophilic myelin breakdown products were numerous in the bands of demyelinisation. Astrocytic proliferation was marked, with frequent Rosenthal fibers. Edema was noted in some lesions. Myelin-axonal dissociation was obvious, but some axonal swelling were observed. Electron microscopy demonstrated the integrity of oligodendrocytes and of blood vessels and confirmed the prominent alterations of the astrocytes. Fifteen similar cases of the literature have been reviewed. The present case seems to be the first one with CT scan examination and electron microscopic study of a brain biopsy. The nosological situation of Baló's disease among the inflammatory demyelinating diseases of the group of MS is discussed.

Adult↗

[Primary lymphoma of the peripheral and central nervous system].

Initial neurological disorders in a patient with primary lymphoma of the nervous system were due to multiple lumbosacral root and meningeal lesions. Recovery after intrathecal methotrexate was followed ten years later by a relapse when lesions were localized in a cerebral hemisphere.

Adult↗

[Primary lymphoma of the central nervous system. Apropos of 8 cases].

Eight cases of intracranial primary lymphoma are reported. This condition accounts for 1.6% of all lymphomas. Although diagnosis is only confirmed by cerebral biopsy or surgical excision, it may be suggested by CT scan in multifocal forms. No localizations were demonstrated outside the CNS upon thorough clinical and radiological investigations or postmortem examination. Prognosis is poor: 5 patients died within four months. Tumor size and meningeal invasion are of more prognostic significance than the histological type. The authors advocate conventional radiotherapy delivering 45 000 grays over 5 weeks. Chemotherapy must be added in huge tumors or when meningeal invasion is present.

Adult↗

[Acute pseudotumoral demyelination with regressive attacks].

A 14 year-old boy presented, at a 3 month interval, with 2 episodes of hemiplegia of rapid onset. The first time, CT scan revealed a large parietal "tumor", shown to be pseudocystic at surgery, and histologically proven as a demyelinating disease. During the second attack, CT scan showed a similar but contralateral lesion, regressing completely under steroid treatment. 40 months after the onset of the disease, the child's life and intelligence are normal.

Acute Disease↗

[Gerstmann-Sträussler-Scheinker disease. Anatomoclinical and genealogical study].

The patient has been examined clinically and his brain examined. Four related patients are known by hospital records, and two others by history. The mode of transmission is compatible with a mendelian autosomic dominant mechanism through three generations, but the line appears to be broken at the further ascending generation with both parents dying too old to be affected. The disease begins in the early thirties, with tremor and frequent falls; intellectual impairment is soon obvious. Later on, the patients are demented, unruly; a marked dysarthria and severe intention and opposition tremor in the trunk and the extremities are present. Midline reflexes are brisk, other reflexes are normal, a Babinski response is not obtained. Laboratory and E.E.G. data are non contributive. At a terminal stage, the patient is bedridden, cachectic, with extensor hypertonia of the lower extremities and flexor hypertonia of the upper extremities. Total course is about seven years. Neuropathological findings in the propositus were almost entirely restricted to the cerebellar cortex, the molecular layer of which is moderately atrophic and gliotic, and contains numerous plaque-like formations without neuritic component, but differing from kuru plaques by the absence of amyloid characteristics. The condition may be nevertheless ascribed to Gerstmann-Sträussler-Scheinker disease, understood as a provisional clinicopathology group, pending further transmission experiments.

Adult↗