摘要:

SummaryThe more recent animal studies reveal the maternal origin of many placental and fetal lipids. In most studies the degree of transport across the placenta and the degree of fetal or placental synthesis of lipids varies with gestational age. Apparently, earlier in pregnancy, there is more dependencé on maternal lipids to provide placental and fetal lipids. In most lipid classes studied the placenta has the capability of altering those lipids presented to it by selective transport and interconversions. Also, most lipid classes are synthesizedde novoin the placenta.This review of available information illustrates the many difficulties in describing placental lipid metabolism and transport. The first of these is the extrapolation of data from any other species to man. We hope that increased sophistication in the use of placental perfusion and in the preservation of human placental tissue will lead to the determination of the transport mechanisms in man as well as in other animals. Secondly, composition studies are of value only in that they point the direction in which metabolic studies should proceed. The third problem is that thein vitrometabolic studies, which tell us what reactions may occur in placental tissue, are not applicable to thein vivosituation, since the magnitude of these reactions is unknown. This information can come only from the perfusion of the placenta with the substrates in question. Finally, it appears that the correlation of placental lipids to maternal‐fetal disease is not going to be easily shown. Perhaps the best approach is the definition of the functional capacity of the placenta to perform metabolic alterations of certain lipids. Then any alteration in this functional capacity of the placenta might well be more meaningful than an alteration in the lipid pattern of the placenta in disease states. In all the studies to be performed, a great need exists for the determination of composition and metabolic pathways in relationship to the time of gestation. Studies should be done at different periods of gestation for both the metabolism and transport of lipids appears to vary with gestational a

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb05674.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryThe clinical, biochemical and pathological findings in a family with four cases of metachromatic leucodystrophy are presented. The biochemical studies of one of the cases revealed the absence of urinary sulphatase A and the preponderance of two glycolipid fractions in urinary sediment.The patient in question was fed a diet low in vitamin A for four months. This diet reduced the relative amount of glycolipids five times in the urinary sediment (relative to the total content of sialic acid free polar lipids). The diet did not change the sulphatase activity. However, no significant clinical improvement of the patient was noticed. The biochemical changes induced by the deficiency in vitamin A are discussed on the basis of biochemical studies showing vitamin‐A to be necessary for the synthesis of active sulphate (PAPS). PAPS is necessary for sulphate incorporation in galactoceramide during biosynthesis of sulphatide. It is suggested that a diet deficient in vitamin A may be used in treatment of metachromatic leucodystroph

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb07276.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryIn 1956 Prader and his associates described a syndrome of obesity, small stature, acromicria and oligophrenia, regularly preceded by an amyo‐tonic state in the newborn period. The males also had a hypoplastic flat scrotum, inguinal or abdominal retention of testes and delayed puberty. A tendency to the development of diabetes mel‐litus in the teenage years was also noted, and the diabetes was of the type normally encountered with onset at maturity rather than in childhood.About 70 cases of this syndrome have been published to date. The literature is reviewed, and details concerning 9 patients of our own are given. Seven of these 9 are males; this predominance may be influenced by the fact that the hypogenitalism in boys facilitates the diagnosis. The mean parental ages at the birth of our patients were abnormally high, but this finding has not been encountered by other observers. Clinically, in addition to the features described by Prader and his colleagues, these patients presented a normal or somewhat large head circumference, delay in dentition and closure of the anterior fontanelle, marked dental caries often superimposed on defective enamel, a somewhat characteristic facies with fair or auburn hair and blue eyes, phimosis in boys, and strabismus. The dermatoglyphic pattern showed no consistent striking aberration but a low average total digital ridge count. The weight tended to be at least 1 SD below the mean during the first year and only became significantly high (above + 2 SD for height‐age) at a mean age of over 3 years, while growth did not accelerate. Behavioral development appeared to slow down during the pre‐school years, whereas the initial hypotonia and weakness improved.The radiological bone age was retarded significantly in boys below the age of 4 years, but not in the one girl who was x‐rayed at that time. Electroencephalograms did not show any gross paroxysmal activity, but at times revealed dys‐rhythmic patterns. Eleetrodiagnostic studies and muscle biopsies did not indicate any abnormality of the lower motor neurone or muscles. Glucose tolerance tests in 8 patients showed a diabetic curve in one girl of 131/2 years and somewhat (but not significantly) high curves in 4 other children. On priming with steroid a boy of 41/2 years also gave a diabetic response. The fasting plasma levels of insulin in 7 cases were essentially normal; the levels after a glucose load appeared to rise abnormally high in the subclinically diabetic girl. Synalbumin insulin antagonist was found in only 1 out of 6 patients; it was also demonstrated in at least one healthy brother of that boy. Plasma growth hormone levels were normal in 5 children. The first case had an XYY chromosome abnormality, and two of seven others had minor chromosomal aberrations.A variety of other biochemical investigations and detailed blood grouping were performed. The findings are discussed, and the possibility of a congenital structural or functional defect of the hypothalamus as an important component of the syndrome is considered. The mode of inheritance is no

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb06038.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb05655.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryA familial dermatoglyphic survey has been carried out in relation to 100 patients with congenital heart disease.Separating the cases with characteristic dermatoglyphic traits from the rest it was found that they were more like their mothers than their fathers and than the remaining cases. The parents were also more alike in the same respect than the other parents.These findings support the concept of a genetically determined fraction amongst all the patients with congenital heart disease.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb07277.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb05656.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb06019.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryThis paper describes a simple, acceptable plethysmograph for use with children, which is operated automatically and is not effected adversely by subject non‐cooperation. The operating mechanism, thermostatic control and recording apparatus are remote from the plethysmograph chambers, two of which are used for bilateral flow measurement

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb07278.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb06020.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryThe case material consisted of 17 pupils at the Norrbacka Institute Schools. Cerebral palsy (CP) was present in 7 cases (mediam age 19 years), and paraplegia of other origin‐chiefly myelomeningocele‐in 10 (median age 17 years). All had severe motor but not mental handicaps, and had to use a wheel‐chair for their daily activities.Physical training was carried out for 30 minutes twice a week for 6 weeks, concurrently with the ordinary gymnastics. It consisted of fast wheel‐chair driving, exercising with medicine balls and dumb‐bells, and levering movements in a wheel‐chair and on parallel bars.Exercise tests were made on an ergometer bicycle for arm work; the loads were submaximal for all pupils, and also maximal for 8 in the paraplegia group. Identical submaximal tests were carried out before and after the training period, together with determination of the oxygen uptake, heart rate, blood lactate concentration and roentgenological heart volume.In the CP group, the blood lactate concentration was lower after training than before it. In the paraplegia group, significantly lower values were recorded after training for oxygen uptake, heart rate and blood lactate. No change in heart volume was detected in either group.In the 8 pupils in the paraplegia group who could perform maximal work, a 40% increase was noted after training.The better training results in the paraplegia group can be explained by the more severe handicap in the CP group, in which the arms were also involved in most cases. The heart rate during training was an average 140 beats/min in the paraplegia group, but only 115 beats/min in the CP group.The results show that these severely handicapped adolescents were able to improve their working capacity, despite training being of fairly mild intensity and carried out during a relatively short period. This implies that the ordinary gymnastic lessons were inadequate for improving the pupils' working capacity, and should therefore be complemented by a training programme of the type described. A better working capacity is highly desirable for their performance at school, as well as during their activity of daily living.It is concluded that this type of training should be included in the conventional habilitation programme for children and adolescents with motor handicaps o

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb07280.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY