摘要:

The activities of four lysosomal acid hydrolases, β‐galactosidase, α‐mannosidase at pH 4.5 and 5.5, N‐acetyl‐β‐glucosaminidase, and acid phosphatase, have been measured in serum and cerebrospinal fluid from 179 patients with different neurological diseases and from 20 healthy controls. In patients with tumours, decreased activity of β‐galactosidase was found in both serum and cerebrospinal fluid, and in patients with multiple sclerosis and collagen diseases, decreased activities of β‐galactosidase and N‐acetyl‐β‐glucosaminidase were found in cerebrospinal fluid. the variations of enzyme activities were great between the individual patients even within these groups and analysis of lysosomal enzymes seems to have a

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05867.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

A histological, histochemical and ultrastructural study of muscle tissue was performed in the parents of a patient affected by a infantile form of acid maltase deficiency (Pompe's disease).In both parents the clinical examination was normal, but serum levels of creatine kinase (CK) and aldolase were high.Histological and histochemical examination of muscle did not reveal any abnormality. Ultrastructural study showed an excess of glycogen granules below the sarcolemmal sheat and between myofibrils, often associated with clusters of mitochondria. There was no glycogen trapped in lysosomal vescicles.The mechanism of glycogen storage in Pompe's disease seems to involve an enzymatic deficiency other than acid maltase.

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05868.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

Compound muscle action potentials of the extensor digitorum brevis were obtained in two groups of normal and uraemic subjects by stimulating the deep peroneal nerve at the ankle and at the capitulum fibulae.Particular attention was drawn to the index of desynchronisation supplied by the amplitude change of the muscle potential evoked by distal and proximal stimulation of the same nerve.Statistical studies confirmed the soundness of this index in the normal and in the pathological condition, and showed a significant increase of the values found in uraemic patients.The complex of the data pointed out the advantage of integrating the usual motor conduction velocity determination with the mentioned desynchronisation index.

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05869.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

Six young adult patients with grade I myotonic dystrophy and a complaint of daytime somnolence underwent 36‐hour polygraphic monitoring, dynamometric and electromyographic studies before and under baclofen (60 mg/daily). Patients with the most severe daytime sleepiness had pathologic Sleep Apnea Indexes. After 6 weeks' ingestion of baclofen, no subjective or objective effect on patient symptomatology was foun

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05870.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

In the course of our studies on cerebral blood flow in newborn infants, we have observed a striking depressing effect of sodium bicarbonate infusion on cerebral blood flow which in some cases may severely aggravate cerebral ischemia. We measured cerebral blood flow before and after the treatment with 1 to 8 meqs of sodium bicarbonate in seven distressed newborn infants. the 133 Xe clearance technique was used. the results showed in six of the seven cases a decrease in cerebral blood flow, which in most cases was reduced to 14 to 22 ml/100 g/min, which is about half the value prior to the bicarbonate infusion. In one case an extreme reduction occurred: cerebral blood flow was reduced to 3 m1/100 g/min, well below the level compatible with tissue survival.The results are discussed with regard to the optimal treatment of the acidotic newborn.

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05871.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

Echo‐encephalographic studies were performed on 57 patients treated for space‐occupying lesions in the posterior fossa. Preoperative echo‐ventriculography (EVG) on 36 patients showed that 32 (89 %) had dilatation of the third ventricle. Three of the four patients with normal preoperative ventricle width had cerebello‐pontine angle tumors. Papilledema was lacking in many cases with considerable ventricular dilatation on EVG. Postoperative examinations on 49 patients showed in most cases a fairly rapid normalization of ventricular size often already during the first 1–4 weeks after operation. Postoperative EVG monitoring of the ventricular system was particularly useful for detection of shunt dysfunctions and recurrence of tumors. Computerized tomography have to some extent replaced echoencephalography, but it is concluded that EVG still offers some definite advantages for certain applications in the management of patients with posterior foss

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05872.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

Since various macromolecules have experimentally been demonstrated to be taken up by the motor end‐plates and subsequently transported through retrograde axoplasmic flow, noxious substances may gain entrance to the lower motorneurons through the same route. Consequently, the function of the capillary barrier in skeletal muscle is of interest in diseases of the lower motorneurons. the transcapillary escape rate of125I‐albumin was determined in six ALS patients. the values fell within the range earlier reported for norm

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05873.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05874.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05875.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY

摘要:

Two patients with dystrophia myotonica and pleomorphic adenoma of the parotid gland are described. the probability that this coincidence could be due to chance is less than 1 to 1,000 (P≤ 0.001). There are several reports in the literature of the association of myotonic dystrophy with neoplasia. the reason for their association is not understoo

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1978.tb05876.x

出版商:Blackwell Publishing Ltd    

年代:1978

数据来源: WILEY