The Authors report on a case of congenital anorchidism, confirmed by laparatomy, with negative sexual chromatin and an XY karyotype. One of his two sisters, with primary amenorrhea, presented marked hypoplasia of the genital tract, positive sexual chromatin and in 3% of the cells with 2 chromatine corpuscles, XO/XX/XXX karyotype. The presence in the same family of two cases of gonadal dysgenesis appears to have occurred by mere chance.

To better understand behavioural and genetic influences upon breathing, the breathing patterns of 8 pairs of monozygous (MZ) twins were measured under 4 behavioural conditions; relaxed without standardisation; eyes closed; eyes open; and reading. Breathing was quantified by inspiratory and expiratory durations (TI, TE), tidal volume (VT) and derived variables. Airflow shape was normalised and quantified using 8 dimensions. Reading caused breathing to increase by > 500 ml/min compared to the other four conditions. Differences in breathing between combinations of two conditions were compared by testing whether the differences within an individual were smaller than the differences between random pairs of individuals from the same 16 subjects. For almost all respiratory variables, and whatever the behavioural condition, there were highly significant similarities within an individual (p < 0.00025 on 32/80 comparisons). Under each condition, the differences within MZ twin-pairs were compared to the differences within random-pairs from the same subject population. There were highly significant similarities within twin-pairs for the airflow shape across all conditions. However, TI, TE and VT failed to consistently show significant similarities within twin pairs. Hence, an individual's airflow shape appears to be a fundamental characteristic which is conserved when behavioural condition and level of ventilation changes. Further, MZ twins have similar airflow shapes – whatever the behavioural situation. Hence, behavioural influences upon airflow shape act upon monozygous twin pairs in similar ways, or such influences were negligible under the conditions of the present study.

Stathmokinetic agents are a class of antimitotic agents which possess the ability of arresting cell division at the metaphase stage.

They are also called spindle poisons because they act by inactivating or distructing the mitotic spindle. Some new discovered stathmokinetic compounds, like vinblastine and vincristine, are effective anti-tumour agents. The mechanism of action of spindle poisons is briefly discussed.

A case of congenital multiple rhabdomyoma of the heart in both of a set of twins of like sex is presented. A separated diamnionic dichorionic placenta was found. However because both twins had the same sex, the same color of eyes, the same blood group and very similar plantar prints pattern they were considered MZ. Twin A died after 10 days becouse of intractable heart failure. Twin B died one hour after birth of hydrops fetalis. The autopsies showed the presence of multiple rabdomyoma in the walls of both hearts and in Twin B a widely patent ductus arteriosus. No other extracardiac anomalies were noted. The diagnosis of rhabdomyoma of the heart, as is usual, was not made. It should be suspected in any infant who shows evidence of cardiac disease. On the other hand, this first case, known so far in the world literature of congenital rhabdomyoma of the heart in both twins could be an important contribution to the knowledge of the nature of this so discussed lesion.

After a careful study and analysis of the various patterns observed on the middle and proximal phalanges on 600 fingers the Author comes to the following tentative conclusions.

1. As it is evident from table I, fingers II, III, IV show a great variability of patterns and among them III and IV have as many patterns as 20 each, while the least degree of variability is observed on thumb, the first finger, which shows only 5 types of patterns. The fifth finger shows 10 different types of patterns. The above number is obtained while counting the pattern present on right and left hands.

2. Among the main types, the pattern Hook predominate exhibiting the percentile frequency of 37.128. Patterns Straight are second in order of preponderance showing the percentile frequency of 24.999. Arches are definitely higher (12.777%) as compared to Enclosures which are 10.554%.

3. The patterns Hook and Straights are more common on fingers I and V, while Arches, Arch Angle and Enclosures are monopoly of digits, II, III and IV.

4. In general it is observed that digits I, II, III bear the patterns which open more frequently on the radial side whereas digits IV and V show the patterns opening on the ulnar side — a natural mechanism which helps a lot in grasping.

5. Comparing the different right-left symmetrical combinations on the finger phalanges of homologous right-left fingers it is observed that digits II, III, and V exhibit a lower number of symmetrical combinations as compared to digit IV, indicating thereby more symmetry in digits I, II, V as compared to digit IV.

6. Comparing the percentile frequencies of various main patterns it can be surmised with certainty that in most of the pattern frequencies Brahmins resemble more to Chinese than to Germans. However, further investigations on these research lines and on many other groups, will not only add to our knowledge but will also help in the race stratification.

Frequency and inheritance of twinning have been studied from urban and rural parts of Madhya Pradesh. Family data conform to previous findings by other authors, for other countries, that DZ twinning is influenced by the mother's genotype.

Of special interest has been a rural family in which a female, herself a cotwin of DZ pair, married twice, each time giving birth to DZ twins.

The high rate of twinning in rural areas is suggested to be due to higher coefficient of inbreeding, better physical condition of mothers on the countryside, higher mean birth order, and higher mean age of mothers. Lack of family planning may have also played a role.

The A. explains the case of a pair of male twins five month aged, contemporaneously and suddenly died of a cardiac insufficiency from hyperthymism.

The examination of both their parents permitted to assure a syphilitic inherited lemish in their children.

Considering the question from the medico-legal standpoint, he does not justify any suspicion of a criminal action when the event may be justificable under the acquaintance of gemellology.

He confirms, besides, reflecting upon the genealogic factors of the parent's families, the theory of Gedda on the hereditary mechanism of gemellogenesis which in the above mentioned case declares itself as an heredity jointed to the sex.

After an intense cytostatic treatment of the patient F.N., whose bone marrow was completely infiltrated with lympho-sarcocytes, a bone marrow transplantation was made. The donor was the patient's sister. The difference in sex chromosomes made it possible to observe the fate of the transferred cells. Immediately after the treatment, till 6½ months later, cells with feminine caryotype were traceable in the patient's peripheral blood (up to 2%). This proves the proliferation of donor cells in the acceptor.

This article discusses the following areas of interest related to the obstetric care of multiple pregnancy: 1) methods of diagnosis and ultrasound, 2) pregnancy protection through adequate maternal nutrition, 3) mode of delivery, 4) discordant twins, and 5) assisted reproductive technology. The article also emphasizes the FIGO/WHO concerns regarding safe motherood and proposes a four point program to reduce perinatal death rates in multiple pregnancy. These elements are: 1) adequate primary health care including access to family planning information and technology, 2) prenatal care with referral of high risk patients to specialized centers, 3) the presence of trained personnel for all women in childbirth, 4) effective access to obstetric care for women who are pregnant, giving birth, or recently delivered.

In a pair of 14 year old DZ twins of different sexes, a particularly profound emotional separation becomes manifest during childhood.

The twins come from a family whose members are considerably introvert, and where very few exchanges of emotional manifestations take place. The male twin offers a more fundamental alteration of personality, and his emotional control is often overwhelmed by antisocial tendencies of relative frequency. In accordance with her family surroundings his twin, instead, possesses a particularly rigid and severe moral conscience.

The twins are spiritually separated when at the age of eight and nine years, the boy attempts certain sexual approaches on the little girl. At first the child consents, but gradually a most intense feeling of guilt rises up in her, which is accompanied by an aversion, rapidly changing into invincibile hatred towards her brother, whom she fears will subject her to further sexual practises.

Notwithstanding the preponderance of the sexual factor, the antisocial behaviour of the boy, also contributed to a certain extent to this separation.

From a psychoanalytic point of view, the girl's behaviour, characterised by a typical inversion of feelings could be in- terpreted as a reaction formation.

As the boy has been classified from a psychiatric diagnosis as bearing a psychopathic personality which occupies a position between neurosis and psychosis, the eventual possibility of a certain degree of familiar and social adjustement is not to be excluded.

È stato più volte segnalato che nelle fratrie di pazienti affette da disgenesia gonadica si verificano parti multipli in numero più elevato del normale. Nelle casistiche riportate (Boyer et al, 1961; Lindsten, 1963; Nance e Uchida, 1964), l'incidenza dei parti gemellari oscilla dal 25% al 63%; considerando globalmente tutti i casi degli autori citati (524 nascite), la frequenza risulta del 32%. Un'elevata incidenza di parti gemellari è segnalata anche fra ascendenti e collaterali delle pazienti.

Il fenomeno viene attribuito a fattori, probabilmente in parte ereditari, che possano provocare un'instabilità nei meccanismi che regolano le divisioni cellulari, tan to nella gametogenesi che nell'embriogenesi (Root et al, 1964). Si deve tuttavia segnalare che nelle fratrie dei pazienti con sindrome di Down, nonostante un errore meiotico nell'ovogenesi e l'età materna più elevata della media, non si osserva un numero di gemelli superiore al normale (∅ster, 1953; Allen e Baroff, 1955).

il quadro clinico e quello cariologico delle disgenesie gonadiche con fenotipo femminile sono alquanto variabili (Giusti et al, 1966). Si possono distinguere: (1) sindrome di Turner tipica, con bassa statura, quadro malformativo completo, compreso il tipico pterigium colli; (2) sindrome di Turner attenuata, con quadro malformativo attenuato, generalmente senza pterigium; (3) casi senza alcuna malformazione, eccettuata la bassa statura; (4) casi con disgenesia gonadica pura che presentano un aspetto somatico completamente regolare, salvo Pinfantilismo. Nella sindrome di Turner tipica il cariogramma rivela quasi sempre il caratteristico ipoploidismo XO; nei casi di disgenesia gonadica pura il cariotipo è molto spesso normale; negli altri casi il quadro è variabile: fra i soggetti con mosaicismo di tipo XO/XX prevalgono quadri di sindrome di Turner attenuata; fra quelli di tipo XO/XY sono abbastanza frequenti le neoplasie gonadiche del tipo del gonadoblastoma.

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 new quantitative evaluation of palmar dermatoglyphics is a radical modification of the metric method already proposed by the A. (1961). The change makes it extremely simple to apply, and it is not at all liable to varying interpretations from one scientist to another. This modification consists in plotting the circumference passing through the three nonaligned points represented by the triradii a, b, d (c has been intentionally excluded, for it is often absent or merely rudimentary). The end of each main line may thus be expressed by the angle at the centre measured (in an anti-clockwise direction for right hands and vice versa for left hands) from the triradius a to the point of intersection between the main line under study and the circumference plotted as described.

The coefficient r of correlation has been calculated in parent-parent, father-child, mother-child and sib-sib pairs, for the ends of line A and for those of line D expressed as above, and also for a number of other metric features resulting from the construction of the circumference. Very small nonsignificant values of r have been found in the case of the parent-parent pairs; in the other cases, on the contrary, the r values were as a rule statistically significant, showing the heritability of the features in question.

The age-dependence of malignant diseases has received various interpretations, whereas that of nonmalignant diseases has been relatively neglected. Nevertheless, the age-distributions of diseases in both categories conform to the same stochastic laws.

Many, and perhaps all, natural disorders with a reproducible age-pattern can be described in terms of a simple model: The disease process is initiated in a genetically-predisposed person through the random occurrence of a small number (r) of somatic gene mutations in each of a small number (n) of growth-control stem cells. Each specifically-mutant stem cell propagates a “forbidden clone” of descendant cells. These cells, or their humoral products, attack those target cells that carry complementary recognition macromolecules. The resulting disturbance to target cells leads to the symptoms and signs of autoaggressive disease. In the classical infectious diseases, an extrinsic factor — the invading microorganism — is essential to the release of forbidden clones from restraints imposed by the host's endogenous defence mechanism.

This general thesis is illustrated with reference to the age-distributions of. Wilson's disease; idiopathic facial (Bell's) palsy, recovery and denervation groups; poliomyelitis; Parkinson's disease; schizophrenia; and multiple sclerosis. Clinically-distinctive forms of a given disease, such as Huntington's chorea or Bell's palsy, often have a distinctive age-pattern.

In addition to differences in n and/or r, it can be inferred that each such clinically-distinctive form of a disease is characterized by a distinctive predisposing genotype. The age-dependence of each stage of a progressive disease has a special interest.

Thus, the onset of “definite and probable” cases of Parkinson's disease (Mayo Clinic data) requires two forbidden clones, each of which is initiated in a predisposed person by five specific somatic mutations. Late deaths from Parkinson's disease (as recorded by the Registrar General of England and Wales) require a third such forbidden clone.

Progression in this neurological disorder, as in certain malignant diseases, corresponds to an increase in the number of pathogenic forbidden clones. The internal mathematical and biological consistency of this type of quantitative evidence powerfully corroborates the forbidden clone theory of age-dependent autoaggressive disease.

The Authors confirm the possibility of a discordance between the sex-chromatin of the cells in the breast-carcinoma and that of the cells of a tumour carrier. It is assumed that the somatic mutation giving rise to the formation of the somatic cell might also involve sex-chromatin.

The best time for twin delivery is at 38 or 39 weeks gestation. Systematic Caesarean section or induction is decided upon during these weeks. Thanks to this policy, the good results formerly obtained have been maintained and an important decrease in emergency Caesarean sections has been noted thus reducing the risks inherent in this method. However, a randomized trial is necessary to confirm these results.

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.

The Authors present two MZ (one ♂ ♂ cf and one ♀ ♀) and four DZ (two ♂ ♂ and two ♂ ♀) twin-pairs aged from 7 to 12, selected among the Institute's pairs, as representing different etiopathogenetic mechanisms of stammering.

After summarizing the literature on the inheritance of logopathy, the Authors discuss the clinical cases and draw the following conclusions:

a) Stammering does not always follow the laws of dominance and recessivity;

b) There is no evidence of a sex-linked transmission;

c) Other logopathies, like battarism and tachylalia seem to possess a common substratus with stammering.