PubMed Health⌕ Search

Biomedical subjects

J M Brucher

Publications and source records attributed to J M Brucher.

At least 127 records · Page 7Linked to original sources
PubMedDate not supplied

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.

A female neonate with pyruvate dehydrogenase (PDH) deficiency is presented with clinical, radiologic, biochemical, neuropathologic, and molecular genetic data. She was dysmorphic, with a high forehead, lowset ears, thin upper lip, upturned nose, and rhizomelic limbs. Cranial MRI revealed severe cortical atrophy, ventricular dilatation, and corpus callosum agenesis. Pyruvate and lactate levels were increased in CSF and blood. Urinary organic acid profile was compatible with PDH deficiency. PDH activity was normal in fibroblasts, lymphocytes, and muscle. The PDH E1-alpha gene was sequenced and a single base mutation was found within the regulatory phosphorylation site in exon 10. It is postulated that this mutation causes a cerebral form of PDH deficiency. Tissue-specific expression of the disease could be explained by differential X chromosome inactivation because the PDH E1-alpha gene is located on this chromosome. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF.

Brain↗
PubMedDate not supplied

Histochemical and ultrastructural analysis of the mitochondrial changes in a familial mitochondrial myopathy.

Two familial cases of progressive external ophthalmoplegia with involvement of pharyngeal and distal muscles are presented. 'Ragged-red' fibres were found in both cases. Excessive amounts of RNA, as evidenced by the acridine orange-induced fluorescence, were noted in many muscle fibres, mostly in the 'ragged-red' fibres. At the ultrastructural level, numerous mitochondrial changes with paracrystalline formations were noted. Those formations were observed in three forms and three-dimensional reconstruction is proposed which suggests that the paracrystalline formations consist of undulating parallel leaflets joined along the top of the undulations. Small transverse bridges between neighbouring cristae and between cristae and paracrystalline formations are also emphasized. All those mitochondrial abnormalities are thought to represent the morphological expression of a biochemical deficiency in the inner membrane. They are interpreted thus: firstly, the biochemical defect leads to a multiplication of the mitochondria with increase in their volume and proliferation of the cristae in order to improve energy production; secondly, bridges between the modified inner membranes induce attachment of the neighbouring cristae and result in paracrystalline formations.

Adenosine Triphosphate↗
PubMedDate not supplied

Leigh's disease--several nosological entities with an identical histopathological complex?

Although Leigh's disease corresponds to a quite distinct histopathological complex, clinical and biochemical findings may be very divergent. By the description of classical and borderline cases and by the comparison with cases from the literature, it is suggested that Leigh's disease encompasses several nosological entities related to different disorders of the energy metabolism. They produce an identical histopathological complex. New evidence for a cerebral mitochondriopathy is also given.

Adult↗
PubMedDate not supplied

[Empyema and subdural effusion after meningitis. 2 cases of unusual location].

A 12-year old child and a 2-month old infant developed, in the wane of a purulent meningitis, the former, an infratentorial subdural empyema, the latter, a large, encapsulated, haemoorhagic, aseptic subdural effusion, in the right parieto-temporo-occipital region. In both cases, signs of intracranial hypertension dominated the clinical picture. Neuroradiological investigations permitted diagnosis and localisation of the expansive processes, whose subdural position was recognized at operation and confirmed by histopathological examination. According to the literature, purulent meningitis is a rare cause of subdural empyema, except in infants; the solely infratentorial location is also unusual. Sterile subdural effusion is a more common complication of purulent meningitis in infancy, but the unilateral posterior supratentorial location is also a peculiar feature. Subdural collections after memingitis may be aseptic and possibly haemorrhagic, or septic and purulent; these different modes of presentation correspond perhaps to different degrees or stages of subdural pathological changes in the neighbourhood of leptomeningeal infection.

Brain Diseases↗
PubMedDate not supplied

Gyriform calcifications in tuberous sclerosis simulating the appearance of Sturge-Weber disease.

Two cases of tuberous sclerosis are presented. Extensive superficial occipital calcifications were found as classically described in Sturge-Weber syndrome. Other radiologic signs of tuberous sclerosis, such as subependymal calcifications in both patients and surgically proved giant cell astrocytoma in one patient, were present. At pathologic examination, the calcifications appeared to be located in extensive cortical tubers.

Brain Diseases↗
PubMedDate not supplied

Monoclonal IgM gammopathy with anti-myelin associated glycoprotein (MAG) activity and polyneuropathy. A study of three cases.

The authors describe three patients with a chronic sensory-motor polyneuropathy associated with a monoclonal IgM gammopathy. In each case, the M-component was shown to display an antibody activity against the Myelin-Associated Glycoprotein (MAG) in a western blot technique. Sera from the three patients stained specifically the myelin sheaths of normal human peripheral nerves after incubation with rabbit anti-IgM. Motor conduction velocities were very low in each case. Morphological studies of the sural nerve from one patient revealed a moderate loss of myelinated fibres, some onion-bulbs but also a microangiopathy and signs of axonal degeneration.

Aged↗
PubMedDate not supplied

Contribution of stereotactic brain biopsies to the diagnosis in several cases of dementia.

Early detection and precise diagnosis of dementias are important since they determine subsequent medical care. Presently the only way to classify these syndromes is by neuropathological examination. Between 1972 and 1988, 246 stereotactic serial brain biopsies were performed in 28 selected demented patients. Comparison between preoperative clinical diagnosis and histological finding gives the following results: the diagnosis has been confirmed in 32%, corrected or specified in 67% and stereotactic brain biopsies only showed unspecific pathological gliosis in 8%. This emphasizes the difficulties to assess precisely the diagnosis. This must be kept in mind when evaluating drug trials.

Adult↗
PubMedDate not supplied

[Cerebellar amyloid plaques in Alzheimer's disease].

In a consecutive series of 30 brains of demented patients (presenile, senile and familial types) with the histological hallmarks of Alzheimer's disease, cerebellar amyloid plaques and cerebellar amyloid angiopathy were observed in 80% of the cases. These cerebellar amyloid plaques were sometimes centered on a small amyloidotic blood vessel. They were immunostained with A4 antiserum, but they were not surrounded by a crown of swollen neurites as demonstrated with silver impregnation and Tau antiserum. They were not immunostained with SAF antiserum which decorated the cerebellar Kuru-like plaques observed in subacute transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome. The absence of neuritic changes around the numerous cerebellar amyloid plaques frequently observed in cases of Alzheimer's disease is an interesting feature and will perhaps explain the mechanism of cytoskeleton changes occurring in the neurons of the cerebral cortex.

Aged↗
PubMedDate not supplied

[Sensorimotor polyneuropathy induced by almitrine dimesylate. Anatomo-clinical study of a case].

A 65-year-old male patient with chronic obstructive long disease developed a severe motor and sensory polyneuropathy during the treatment with almitrine bismesylate (Vectarion). Electrophysiological and neuropathological investigations demonstrated a distal axonopathy. A medicamentous origin was suspected since other causal factors were lacking. Eight months after stopping of treatment, the functional recovery was complete. The authors discuss the recent data recorded in the literature concerning the neurological complications induced by this new drug, which is increasingly administered in diseases of the respiratory tract.

Almitrine↗
PubMedDate not supplied

Pathophysiology of brain ischaemia.

The main data concerning the pathophysiology of cerebral ischaemia are reviewed and subdivided into five chapters: elementary cellular changes, elementary circulatory disturbances, pathology at the cellular and tissular levels, causes of ischaemia, and topography of ischaemic brain lesions. Local, regional and general factors are discussed and the prominent role played by the haemodynamic factors is emphasized.

Acidosis, Lactic↗
PubMedDate not supplied

[Anterior choroid artery syndrome with neuropsychological and oculomotor disorders].

A patient with infarct in the region of the right anterior choroidal artery presented neuropsychological signs corresponding to a minor hemisphere syndrome and disorders of horizontal oculomotricity similar to those obtained in unilateral parietal-occipital lesions. An anatomic interpretation of the latter finding is attempted.

Aged↗