An individual's functional ability in physiological responsiveness is thought to be an interaction between his heredity and his environment. This hypothesis was tested to determine if different extragenetic influences would alter functional adaptability in a set of MZ triplets. After a 3-month aerobic physical fitness training program varying only in frequency, measured values for the triplets' maximum oxygen consumption (MaxVo2 ) were 59.1, 44.5, and 57.8 ml/min/kg, as compared to pretreatment values of 45.2,45.1, and 49.1 ml/min/kg respectively. These results clearly indicate intrapair differences in functional adaptability, stemming from difference in the training frequency program. The split-triplet design of this study indicates that environmental factors contribute substantially to the intrapair variance found among MZ siblings. Data extrapolation suggests that environmental stimulation of sufficient magnitude is likely to alter the functional adaptability in the individual set by his genotype.

A case is described of uncommon vertebral malformation simulating a duplication of the spine. Pathogenesis, etiology and terminology of such an anomaly are briefly discussed.

Most of the cases of Amalric's pigmentary macular dystrophy associated with deafmutism seem to be due to a rubella or to another viral infection of the mother during pregnancy. This association can sometimes probably also be due to an infectious disease of the early childhood. Heredity seems to be a rather exceptional factor.

Three familial cases of epibulbar dermoids, associated with lid ptosis, antimongoloid aspect of the palpebral fissure and nasal lobuloschisis are reported.

The hereditary character of this malformation is interpreted in terms of polimery.

The application of multiway contingency table analysis to the multivariate analysis of concordance ratios in twin studies is developed. The approach is illustrated by data on smoking and alcohol use in Finland and Sweden. This approach can enable the assessment of the effect of other variables on the concordance ratio and thus allow estimates of genetic effects on the trait under study. Hypotheses on relationships between genetic effects and other variables can be tested. After hypothesis testing, model fitting of the best hypothesis can be carried out.

Three pairs of male twins concordant for muscular dystrophy are presented. Two of these pairs are shown to be monozygotic and affected with the Duchenne form of muscular dystrophy. The third pair is probably dizygotic. The clinical and genetical features of each pair of twins are discussed. Pedigrees with photographs of the twins are presented.

The possibilities of early diagnosis of multiple pregnancy are shown, which helps to prevent and reduce the incidence of premature deliveries.

The acute form of twin-to-twin transfusion syndrome is caused by rapid transfer of blood from one of the twins to another via placental anastomoses. Usually, this only occurs during the second stage of labour as a result of a sudden relative rise of blood pressure in one of the fetal circulations. This can result in the sudden intrauterine death of a fetus (or both, as in our case). Currently, there is no reliable means of identifying such an at-risk pregnancy by means of ultrasound antenatally. We would classify this as TTTS Type III.

Five cases of twin pregnancy associated with elevated maternal serum alpha-fetoprotein levels are presented. In each instance an abnormality was detected by ultrasound examination—in four cases this represented anomalous development of one or both fetuses: discordant anencephaly; a monozygotic heterokaryotypic twin pregnancy with coexistent Turner's syndrome and intrauterine death; concordant body-stalk syndrome; and fetal exomphalos together with an acardiac monster. In the remaining case, there had been an intrauterine death of one of the twins. Ultrasound examination proved valuable in all instances; three pregnancies were terminated and single healthy infants were delivered from each of the other two pregnancies.

A new syndrome in three siblings, a man and two women, now aged 33-45 years, is described. The syndrome consists of the following symptoms:

1. Oligophrenia (IQ about 30, Terman-Merrill test) with harmonic infantilism.

2. Dense cataract with onset in childhood.

3. Myopathy, mainly affecting proximal muscles but also facial, masticatory, and external ocular muscles. The myopathy probably had its onset at puberty and progressed, in 2 of the 3 siblings until they were confined to a wheel chair.

4. Signs of pyramidal tract involvement and slight ataxia, probably congenital and nonprogressive.

5. Deficient speech development.

6. Skeletal changes including thoracic deformity, scoliosis, pes planovalgus, shortening of the fourth toe, and osseous dystrophy especially in the hands and feet.

7. Hypergonadotropic hypogonadism with primary amenorrhea in one of the sisters, very early menopause in the other and pronounced testicular atrophy in the brother. There were no signs of other endocrine insufficiency and the secondary sex characters, body hair distribution and libido were normal. The karyotype was normal in all three siblings. The heredity was considered to be probably autosomal recessive. Since, therefore, a number of independent organs were affected, the syndrome has been assumed to be caused by a penetrating metabolic defect the nature of which is unknown.

Aim. To evaluate the association between the incidence of leave of absence from work and perinatal outcome for the twin-pregnant woman.

Material and methods. A 20.2% sample of all twin-pregnant women between 1982 and 1988 (1,331/6,602) was taken at random from the entire material of twin deliveries in Sweden, archived at the Medical Birth Registry (MBR), National Board of Health and Welfare. For each woman in the sample, information on period(s) and reasons for leave of absence from work during pregnancy was obtained by inquiry to all Regional Health Insurance Offices throughout Sweden. A comparison of perinatal outcome was also made with information from the Danish Fertility Database and the Norwegian Medical Birth Registry.

Results. Duration of leave from work increased from 58 days in 1982 to 97 days in 1988 (trend analysis; t = 7.9, p <0.001). No association was seen between perinatal mortality for twins weighing. < 1,500 g and changes in the incidence of leave of absence. The incidence of twins with a birthweight < 1,500 g varied among the three countries, increasing significantly only in Sweden (trend analysis χ2 = 20.3, p <0.0001).

Conclusion. Although the number of days of leave of absence increased by 60%, there was no obvious association with perinatal mortality for twins weighing < 1,500 g. The incidence of Swedish twins with a birthweight < 1,500 g increased significantly, indicating that the effect of leave of absence from work on perinatal outcome may be less effective than previously thought.

In six monozygotic and six dizygotic healthy twin pairs the urine elimination after rapid drinking of 1000 cc of water (Fishberg-Volhard test) was studied. Considerabbe variation wes observed in the diuretic response of these individuals, particularly in the maximum rate of the reactive diuresis. The minute volumes of urine during the half-hour period of the largest output were compared between the partners of each twin pair. It was found that the difference of the maximum rate of urine flow was significantly (0.01 level) smaller between one-egg than between two-egg twins under otherwise equal conditions. The concept of genetic factors controlling the function of the renal tubular cells is discussed.

L'enuresi primitiva (essenziale notturna) può essere definita come una minzione involontaria che avviene di notte durante il sonno, mentre nel corso della giornata la minzione è normalmente controllata, ed ha perciò caratteri peculiari.

Il notare, a volte, nei bambini affetti da enuresi primitiva la concomitanza di piccoli disturbi psichici o emozionali, di piccolo male, di stati di ipervagotonia o spasmofilia, conferma la natura funzionale complessa dell'affezione, sulla quale influiscono in prevalenza turbe della vita psichica o degli interessi affettivi del bambino. Alcuni dei fattori psichici implicati nell'enuresi (mancinismo, infantilismo nei giochi o discorsi, terrori notturni, fobie) possono anche essere considerati come indice di una incompleta maturazione psichica.

Non vogliamo qui discutere sull'etiopatogenesi della malattia, che è tuttora piuttosto oscura. La maggioranza degli autori considera l'enuresi primitiva come un disturbo funzionale complesso, non legato ad alterazioni dell'innervazione o della maturazione delle strutture nervose e muscolari preposte alla funzione vescicale, ma piuttosto riportabile ad alterazioni (o ritardo) del meccanismo volontario della minzione.

Si parla di enuresi primitiva quando il controllo anche notturno della minzione non è stato raggiunto entro i primi tre anni di vita. Secondo Harrison (1967), a 5 anni l'enuresi è presente nel 15% dei maschi e nel 10% delle femmine, a 9 anni nel 5%. Il disturbo cessa spontaneamente alla pubertà in quasi tutti i casi.

The Authors describe the therapeutic effects obtained with Vincristine and Imuran in patients with acute leukaemia.

The results obtained with Vincristine indicate that the drug may be usefully employed in some cases of lymphoblastic leukaemia, both in the untreated phase or when the disease has become resistant to other antimetabolites. The remissions are of shorter duration compared with those obtained with other available compounds and are substantially confined to the lymphoblastic variety of acute leukaemia.

The preliminary clinical trial with Imuran has shown that the drug is better tolerated than 6-mercaptopurine and is able to produce good and satisfactory remissions in lymphoblastic and myeloblastic leukaemia, as well as in the blastic crisis of chronic granulocytic leukaemia, provided the dosage employed reaches 7-8 mg/Kg body weight daily.