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Biomedical subjects

J Merory

Publications and source records attributed to J Merory.

10 recordsLinked to original sources

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "dominant intermediate CMT" (DI-CMT). A genomewide screen using 383 microsatellite markers showed strong linkage to the short arm of chromosome 19 (maximum LOD score 4.3, with a recombination fraction (straight theta) of 0, at D19S221 and maximum LOD score 5.28, straight theta=0, at D19S226). Haplotype analysis performed with 14 additional markers placed the DI-CMT locus within a 16.8-cM region flanked by the markers D19S586 and D19S546. Multipoint linkage analysis suggested the most likely location at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM confidence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.

Charcot-Marie-Tooth Disease↗

Intravenous pulse methyl prednisolone in the successful treatment of severe sarcoid polyneuropathy with pulmonary involvement.

Severe widespread sarcoid polyneuropathy with associated pulmonary involvement was treated successfully in a 26 year old man using "pulse' methyl prednisolone. After he had failed to respond clinically to a two months course of high-dose oral prednisolone, a regimen of intravenous methyl prednisolone 1 g once a week for eight weeks was instituted, along with 10 mg prednisolone orally daily. Neurological improvement began after the third dose with complete remission achieved after the eighth week. More than 12 months after cessation of treatment he remains in good health with no clinical or laboratory evidence of sarcoidosis.

Adult↗

Cerebral blood flow after surgery for recent subarachnoid haemorrhage.

243 measurements of cerebral blood flow by a noninvasive (133)Xe clearance technique have been made in 45 patients undergoing surgery for a recently ruptured cerebral aneurysm. Two groups of patients have been defined by the presence or absence of a postoperative rise in cerebral blood flow which showed a significant correlation with level of consciousness after operation.

Adolescent↗

Doppler ultrasound scanning of the carotid bifurcation.

The results of Doppler scanning of 146 carotid bifurcations in 86 patients were correlated with carotid arteriography. The correlations for normal carotid arteries ranged from 63% to 98%; the correlation for occlusions of carotid arteries was 100%. The Doppler scan correlated in 70% to 85% of stenoses of the internal or external carotid arteries near their origins. The technique may be performed by a well-trained technician or physician.

Carotid Arteries↗

Mechanisms in cerebral lesions in trauma to high cervical portion of the vertebral artery--rotation injury.

Three cases have been described illustrating the mechanisms and effects of lesions from acute rotation injury to the vertebral artery. These indicate that the portion of artery at risk is in the C1 to C2 region, where stretching and shearing strains can produce intramural dissection and haemorrhage. Such changes can radically alter flow to produce acute arterial obliteration or later cerebral embolism. Such alteration can also produce a change in relationships between artery and surrounding structures and thus cause intermittent occlusion of a vertebral artery upon cervical rotation.

Acute Disease↗

Frontal agraphia, (including a case report).

Frontal agraphia has always been a subject of interest, although very few documented case reports have been published. A 57 year old male clerk, suffering from adenocarcinoma of the signoid colon, presented with mild headache and difficulty in writing. Minor features of dysphasia could be detected, but there were no alexia, agnosia or apraxia. Brain scan and angiography confirmed a metastasis in the posterior part of the left prefrontal region. The patient was able to write single letters, and had no difficulty with automatic writing or copying. The writing of words and of sentences was more affected. After a brief review of the literature and discussion, the authors concluded that frontal agraphia is related to frontal lobe diorders, especially the inability to translate verbal signals into motor behaviour (i.e. writing).

Adenocarcinoma↗

Xenon-133 inhalation method for regional cerebral blood flow measurements: normal values and test-retest results.

The purpose of this investigation is to determine the normal values for regional cerebral blood flow (rCBF) as determined by the xenon inhalation method of Obrist. Normal values for all rCBF parameters were measured in 15 healthy individuals. Our data are compared with the normal data obtained by other investigators. In addition, test-retest rCBF measurements were performed to determine the reproducibility of the method. Our results show that the method is highly reproducible when carried out in serial studies over a short period of time.

Adult↗