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Biomedical subjects

M Pages

Publications and source records attributed to M Pages.

At least 55 records · Page 3Linked to original sources
PubMed1985

Epidemiologic implications of Creutzfeldt-Jakob disease in a 19 year-old girl.

A histopathologically-verified, clinically typical case of Creutzfeldt-Jakob disease (CJD) is described in a 19 year-old girl. Only 3 previous cases of CJD have been reported in adolescents, and one of these was iatrogenically transmitted, while another was familial. Epidemiologic investigation of the present case excluded a familial component, and provided no evidence for iatrogenic or natural case-to-case transmission, or of other environmental sources of viral contamination. Young patients such as this one serve to emphasize the obscurity that still surrounds the epidemiology of CJD, and invite serious reconsideration of the possibilities of transmission by undetected virus carriers, or of the agent as a natural resident of human cells, replication of which might be triggered by non-infective (e.g., traumatic or mutational) environmental events.

Adult↗
PubMed1984

Severe neurological disease associated with hyperparathyroidism.

Two patients, one with ataxia, internuclear ophthalmoplegia, muscle weakness, atrophy, fasciculations, and bilateral Babinski's signs, the other with dysarthria, dysphagia, muscle weakness, atrophy, fasciculations, and hyperreflexia, had elevated serum calcium and parathyroid hormone levels, establishing the diagnosis of primary hyperparathyroidism (HPT). Removal of a parathyroid adenoma in one patient and three hyperplastic parathyroid glands in the other resulted in remission of the hyperparathyroidism but left both patients with residual neurological damage. Postmortem examination of the second patient showed typical features of amyotrophic lateral sclerosis. The findings in these patients show that hyperparathyroidism may be associated with signs of severe central nervous system disease and that patients with unexplained neurological signs or symptoms should be checked for hyperparathyroidism.

Adenoma↗
PubMed1984

Congenital muscular dystrophy with cerebral white matter spongiosis.

Two siblings affected with a slowly progressive congenital myopathy presented mental retardation, epilepsy and craniofacial dysmorphy. The cerebral necropsic study of one of these patients showed severe anomalies of the white matter, with spongiosis, astrogliosis and vascular hyperplasia, whereas a diffuse and marked hypodensity of white matter was observed at cerebral CT scan in the other patient. There were any lesion of cerebellar grey matter, heterotopy, micropolygyria or neuronal destruction. This syndrome seems to be an original variant of congenital neuromyopathy.

Adolescent↗
PubMed1983

Congenital muscular dystrophy and rigid spine syndrome.

In three patients with muscular dystrophy, the unexpected occurrence of spinal stiffness suggested a diagnosis of rigid spine syndrome. One case belongs to the benign form of the congenital muscular dystrophies; in the other cases however, the severity and the distribution of the muscular process, associated with neurological abnormalities, seems to correspond to a unique variant of congenital muscular dystrophy. These observations underline the heterogeneity of the rigid spine syndrome.

Brain↗
PubMed1983

[Spontaneous hematomas of the cerebellum. 28 personal cases].

Cerebellar hematomas constitute an emergency as emphasized by a study of 28 personal and 189 published cases. Accounting for 10 per cent of the total of cerebral hemorrhages, they occur mainly in patients after 40 years of age essentially as a complication of hypertension. An evocative stereotyped triad characterizes their sudden onset: severe headache, repeated vomiting, vertigo and imbalance. In their subacute and acute forms, a rapid impairment of consciousness occurs. Death is constant in such cases. Computerized axial tomography is the essential mean of accurate diagnosis and shows the subsequent consequences on other brain structures. Surgical evacuation of hematomas preceded or not by ventricular drainage is the useful procedure in most cases. Results depend on a timely decision and on the conscious level. In other cases, the spontaneous course is more favorable. Brain herniation is however possible and the presence of a vascular posterior fossa malformation must be kept in mind.

Adult↗
PubMed1983

[Proliferative myositis, a muscular pseudo-sarcoma. Apropos of a case with an ultrastructural study].

A 40-year old woman with a history of rapidly growing tumor of the brachio-radialis muscle is described. By light microscopy, the tumor had typical features of proliferative myositis, with alternating areas of well preserved muscular fibres and strands of proliferating spindle shaped cells and ganglion like cells. Electron microscopic study showed non specific degenerative muscle changes, fibroblasts and giant cells. The histogenesis and the nosologic place of proliferative myositis are discussed.

Adult↗
PubMed1982

Tissue specificity and organisation of CpG methylation in calf satellite DNA I.

Examination of bovine satellite DNA I methylation within CpG dinucleotides has been made by restriction analysis. It is shown that variations in the methylation patterns occur between different tissues (brain, liver, thymus and sperm) . Some of the 8 Hpa II sites present per repeat are clearly undermethylated in sperm as compared to other tissues. Methylation is considered therefore, as a highly specific event. It is also shown that there is a spatial specificity in the methylation pattern of the 3 Hha I sites in all tissues. These results are discussed in the light of methylation and satellite DNA functions.

Animals↗
PubMed1982

[Haemorrhagic necrosis of a pituitary adenoma in a case of multiple endocrine neoplasia (author's transl)].

A case of pituitary adenoma in a 55 years old man was revealed by sudden pituitary apoplexy due to haemorragic necrosis of the tumor. Neurological signs were intracranial hypertension, epistaxis and evolutive bilateral ophtalmoplegia. Case history revealed a multiple endocrine neoplasia including a pancreatic insuloma and a parathyroïd adenoma. Biological data were hypercalcemia, hypophosphoremia and elevated serum levels of prolactine and parathormone. The characteristic features of pituitary haemorragic necrosis and multiple endocrine neoplasia are reviewed.

Hemorrhage↗
PubMed1982

[Centronuclear myopathy. Complete review of the literature apropos of a case].

A 19 years old woman suffered from claw feet and mild disorders of gait since infancy. Physical examination disclosed parseris of pelvis girdle, diffuse areflexia, mild dorsolumbar scoliosis, claw feet and a high arched palate. The facial muscles and cranial nerves were not involved. Serum enzymes were normal, EMG was consistent with a myopathy. Family examination and laboratory data were normal. On muscle biopsy, there were many muscle fibers with central nuclei and clear perinuclear areas, and a varying increase of adipose tissue. Histochemical studies showed type I fiber predominance and atrophy ; the central part of fibers was not stained by ATPase reactions but was strongly reactive with phosphorylase and oxidative stains. By electromicroscopy, central nuclei were separated by strands of glycogen ; there were no myofibrillar abnormalities. From a literature review, there is a large heterogeneity in genetic, clinical and pathological findings. Any attempt to class the different kinds of this disease is difficult, other than by the age of onset : --Early onset cases are characterized by neonatal hypotonia, severe disability and sometimes early death by pulmonary involvement. --Infantile and late onset cases have slower evolution. The nature of the disease remains unknown.

Adult↗
PubMed1982

[Cleido-cranial dysostosis with malformation of the cervico-occipital junction].

A 66 years old man with cleido-cranial dysostosis suffered from a progressive ataxic gait for 45 years. Physical examination discovered cerebellar and pyramidal signs and altered deep sensibility in lower limbs. Roentgenograms showed skeletal dysostosis and a severe malformation of the cervico-occipital junction. The disease was transmitted with a dominant autosomic inheritance. The patient died from cardiac and respiratory distress. Post mortem examination confirmed radiologic anomalies: basilar invagination with a low-situated brain stem. The paucity of neurological complications of cleido-cranial dysostosis is emphasized. This is apparently the first reported case with clinical signs of cervico-occipital malformation.

Aged↗
PubMed1981

[Type I multiple endocrine neoplasia with prolactin-secreting tumor revealed by pituitary apoplexy (author's transl)].

Prolactin-secreting adenoma is probably the most common functional pituitary tumour in type I multiple endocrine neoplasia (MEN I). The authors report on a case of gastrinoma and parathyroid adenoma associated with prolactinoma. The latter tumour was revealed by sudden pituitary apoplexy. The characteristic features of endocrine tumours in MEN 1 are discussed, and the relevant literature is reviewed. Emphasis is placed on the fact that prolactinomas are well tolerated, remain clinically silent for a long time and may be diagnosed only when dramatic symptoms suddenly appear.

Cerebrovascular Disorders↗
PubMed1981

[Central core disease. Two cases with histoenzymology, electron microscopy and review of the literature (author's transl)].

Central axis myopathy is one of the commonest congenital myopathies. It is transmitted above all by a dominant autosomal mode, but sporadic cases are numerous. Clinically, it is characterised by neonatal hypotonicity, delayed slow motor development in the young child, but the diagnosis may be mode only in adult life. There is preferential involvement of the muscles of the pelvis girdle, muscle wasting otherwise remaining moderate in general. Various skeletal malformation are fairly often present in association. the electromyogram is of myogenic type. The disorder does not show any marked progression. By light microscopy, the central axis is more clearly seen by stains such as PAS, trichromes, and haematoxylin phospho-tungstic. In most cases it is the sole finding and is seen in a variable number of fibres, not only from one patient to another, but from one muscle to another. The rest of the fibre may be normal or show various lesions with no specific characteristics. Histoenzymology may show rarefaction or disappearance of the II fibres, relative hypotrophy of I or II fibres, or the absence of any oxidative phosphorylase activity in the central axis. The latter shows changes with regard to ATPase activity ("structured core" and "non-structured core"). Electron microscopy shows changes in varying degree in the axis, possibly to the extent of myofibrillary destruction, contrasting with the absence of or only slight changes in the rest of the fibre. Two cases, one in a child and the other in a 24-year-old woman, are reported, illustrating the above findings. Various interpretations have been suggested for this condition. Certain authors accept the existence of progressive transformation of the II fibres, whilst others describe pathology of the Z striae or a disturbance in the distribution of the mitochondria. Similarities with other muscular lesions, in particular rod myopathy, have been envisaged.

Adolescent↗
PubMed1981

[Occlusion of the basilar artery. A review with 17 personal cases (author's transl)].

Occlusion of the basilar artery is mainly of atherosclerotic origin; embolic occlusion, dissecting aneurysm, trauma and arteritis are less frequent. Pathologic and angiographic findings allow to classify basilar artery occlusions in three types: segmental (superior, medial or inferior), plurisegmental and extensive. The infarcted areas involve brain stem, especially pons and cerebellum, also diencephalon and cerebral hemispheres, in various combinations. Clinically, there is typically a prodromic stage, with transient ischemic attacks (vertigo, headaches, visual disturbances, motor deficit). Few weeks later, a decreased level of consciousness and motor anomalies are the most important signs. A fatal outcome is noted in 85,98 p. 100. Among laboratory examinations, only angiography proves the occlusion: it also shows the arterial supply (carotido-basilar reflux; inter-cerebellar anastomosis). Computed tomography usually eliminates an expanding mass of the posterior fossa. Management is only of general type. Surgical management of carotid arteries stenosis may ameliorate the anastomotic flow.

Arterial Occlusive Diseases↗