The Authors describe the methodology of an analytic electroacoustical study of the spoken voice of MZ twins of prepuberal age.

The study was intended to reveal any possible analogies of the vocal spectrum and to ascertain the extent of the genetic conditioning of such analogies. For this purpose the Authors analyzed electroacustically a recorded material obtained as follows:

a) during free conversation,

b) by applying a laryngophone to the larynx in order to identify the fundamental laryngeal frequency,

c) after introducing in both cotwins a critical variant by application to the ears of a deafening tone.

Identical studies were carried out on a control material including DZ pairs and pairs of random-coupled non-related individuals very similar as to age and build.

The results can be summed up as follows:

1. The curves representing the vocal spectrum at the various frequency for each MZ pair reveal a marked similarity both in the general trend of the vocal curve and in the values at each point of the curve. The similarity is specially marked in the vicinity of the voice's fundamental frequency.

2. The location of the fundamental laryngeal frequency in the majority of MZ pairs has been found to be very close, and in many cases even coincidental.

3. Neither the analogies in the vocal spectrum nor the location of the fundamental frequency have been significantly modified by deafening.

4. The control material (including DZ pairs and random-coupled pairs of individuals having different heredity but similar as to age and build) has revealed marked dissimilarities both in the curves of the vocal spectrum and in the location of the fundamental laryngeal frequency.

On the basis of these results the Authors conclude that there is a similarity in the spoken voice of MZ pairs of prepuberal age they have examined, and this similarity is to be largely ascribed to morphological and functional factors of similarity of a genetic nature in the laryngeal generator.

Desideriamo fare il punto di una ricerca intorno ad alcuni aspetti dell'anestesiologia che possono interessare la genetica, ricerca che abbiamo in corso da oltre un anno e che ci permette di formulare alcune prime considerazioni di carattere generale.

Presentando gli atti di un « Symposium » intorno agli effetti prodotti dai farmaci sul comportamento dell'uomo e degli animali, H. H. Pennes osserva testualmente: « As a modern science, psychopharmacology is still in its infancy despite the race has been exposing it self to drugs with mental actions since antiquity. The infant is now being increasingly nurtured by its related disciplines-biochemistry, physiology, pharmacology, psycology and psychiatry ».

Sembra un po' strano che H. H. Pennes non abbia ravvisato, fra le discipline che possono alimentare la psicofarmacologia in questo suo periodo d'infanzia, anche la scienza dell'eredità, cioè la genetica. Infatti è perlomeno pensabile che, essendo molte le funzioni mentali tributarie dell'eredità, come le ricerche genealogiche, gemellari e raziali dimostrano, anche la reazione a dei farmaci anestetizzanti e psicotropi possa presentare delle costanti geneticamente controllate.

The Authors report on 10 subjects of the same family affected by a malformation of the ocular region, which may be classified in the group of the ptoses with blepharophimosis. These symptoms, always present, were variably accompanied by other malformations (dislocatio lateroversa canthi medialis, duplicity of the lower lacrimal points, « elongatio » of the lower canaliculi, limitation of the superior recti, synophrys, hypoplasia of the iris, of the caruncle, of the plica semilunaris and of the tarsus). The existence of a hereditary congenital malformation, which may be called «ptosis with blepharophimosis », is confirmed. In the cases reported this is probably transmitted by a dominance trait.

The authors describe the case of two 13 year-old MZ female twins showing concordant torticollis of the « schisosynostotic » type, and the case of two 24 year-old MZ ma'e twins, affected with concordant anisocoria and discordant torticollis of the « dysmorphic » type. On the basis of a general discussion the authors believe that torticollis fills into the malformations of the axial skeleton, in which two main groups may be identified: a first group of schisosynostotic malformations, including osseous torticollis, Klippel-Feil's syndrome, Sprengel's syndrome, and other related conditions; a second group of dysmorphic malformations, probably connected to the status dysraphicus from a pathogenetic point of view.

The Authors report on dizygotic twins of 7 months and of different sex. Both twins were affected by iris atrophy, which in the male was associated with buphthalmos acquired at about 6 months of age.

The hypothesis is made that the primitive heredity consists in the iris malformation and that in this case the buphthalmos is secondary to it.

In two sisters a female pseudohermaphroditism was found, due to constitutional hyperplasia of the adrenal glands. The typical alterations of external genitals already present at birth were associated with an early appearance of secondary sexual characters of the male type and exaggerated expulsion of the 17 urinary ketosteroids.

There were signs of a deficiency of mineral-and glycogen-active hormones, but they were not such as to give clinic manifestations.

In one of the patients the amputation of one third of both adrenal glands caused a transitory improvement.

The familiality observed in these cases leads the authors to assume a hereditary transmission of the recessive type.

Following some observations on the pathogenesis and clinical manifestations of « Xeroderma Pigmentosum «, two histologically ascertained cases are reported, as studied in the dermosyphilopathic Clinic of Berlin's Free University.

In the first case it was possible to prove parental consanguinity, already mentioned by Siemens as proof of irregular recessive inheritance. In the second case the lack of sufficient familial information suggests a non-genetic origin. In both cases it was possible to rol out venereal disease as the causin factor, and the disease appeared only after the third year of age, at 10 years in one case, with onset at the cornea. In the latter case the EEG reveals variations indicating the existence of organic brain disturbances which (associated with the ocular alterations) suggests the occurence of a neuroectodermosis.

In any case it would be wise to warn Xeroderma patients that in the case of consanguineous marriage, there is the danger of the recessive disease (latent in both parents) becoming real; otherwise the physician may, after such a marriage, support the possible request for sterilization on the part of the patient.

Mean frequencies of the Swedish blood group genes of the A1A2BO, MN, P and Rh(CcDE) systems are given with special regard to the Cw and Du factors. The frequencies are calculated from materials of non-related, adult persons, mothers and alleged fathers in paternity cases, which materials must be regarded as free from any clinical or other influencing blood group selection.

A family beloging to an isolated locality of Latium and comprising 362 subjects was studied. Among these subjects 63 cases of variably complicated iris atrophy, which the Authors distinguish in three degrees according to the severity of the disease, were found and studied. From the nosological point of view, glaucoma and hydrophthalmus proved to occur as secondary manifestations of the iris atrophy in this family. From the genetic standpoint it was confirmed that the transmission of the disease occurs by a dominance trait and that it probably corresponds only to a couple of autosomic allelomorphs. The penetrance seems to be almost complete, while the expressivity may be very variable.

The clinical observation demonstrates that Arthrosis, Varicous Veins, Hernia, Epistaxis juvenilis recidivans and spontaneous Ecchymosis appear very frequently associated in a same subject. Nevertheless the validity of this association among these clinical pictures could be invalidated if one could demonstrate the association itself is due to the influence of age.

A research has been accomplished on 413 subjects, 156 men and 257 women, at the purpose of seeking out the influence that age can have on the rising and above all on the association of these manifestations.

The AA. have elaborated the data by use of the common correlation coefficient, of the partial correlation coefficient, with age kept constant, and of the factorial analysis.

The results can be so summarized:

1. there is a positive correlation among the various clinical pictures (table 3).

2. No manifestation shows a significant correlation with age, excepting arthrosis (table 4).

3. After the elimination of the influence of age, the correlation is still significant (table 5).

4. The factorial analysis brings the existence of a factor joint with the various manifestations and indipendent of age into evidence (table 6).

The results of this research strenghten the clinical reality of the mesenchymosic diathesis.

The pathogenetic common factor conditioning the rising and the association of these manifestations is most likely to be sought in changes of the biochemical state of connective tissue wich causes the output of a connective less apt to the support and easier predisposed to wear out. With the genetic factor other situations have therefore a particular interest, first in this group are the endocrines ones, wich effect variously the penetrance and espressivity of the gene and so the unset and evolution of the Mesenchymosis.

The AA. underline, once more, that this syndromic group is to be kept distinctly separated from the other large group of diseases of connective tissue i.e. the socalled reactive mesenchymopathic diseases or rnesenchymitis (not properly called collagen diseases or collagenosis and by some even mesenchymosis). That is definitively different, because the inflammatory nature, from the mesenchymosic diathesis (or heredo-constitutional Mesenchymosis) wich is due to changes of the supporting function of the tissues of mesenchymal origin.

The Authors have studied the erythrocytometric curve in twins using for comparison the Price-Jones' index for the evaluation of long term-findings in the same healthy subject. The upper limit of such an index is = 3. The monozygotic twins show curves which, when statistically analized, behave just as curves of the same subject. When the index values are over such a limit, a discordant disease — i. e. a disease present only in a twin — is usually observed. These findings may be explained by admitting that the diameter of erythrocytes represents a hereditary trait conditioned by the genotype.

In a wide survey of twin births which was made in Sardinia, covering the years from 1902 to 1954, it was found that there was an incidence of 9.2 multiple births out of a thousand, which may be considered the lowest for any of the regions of Italy. The survey comprised not only the three provinces, but individual zones which are distinguished by historical and geographical differences.

In each of these areas a different trend appeared in what might be termed the twin phenomenon due, obviously, to the characteristic hereditary traits of the population, the degree of isolation and the endogamy which has usually been praticed over a long period.

In a commune of Campidano di Cagliari, Serramanna, research was made to ascertain what part heredity played in twin births, with positive results.

Furthermore, MZ and DZ twins were studied for the resemblance or non-resemblance in certain characteristics such as the form and colour of the hair, the skin colour, the m.c.c, the colour of the iris.

This survey of twins has shown itself to be a truly suitable method for the study of the patrimony of heredity of the Sardinians who are a Mediterranean population which are anthropologically and ethnically a distinct group on their own.

The results of a genealogical study of human ovarian carcinoma are presented.

In this investigation 4160 individuals are included: out of these 1892 belong to 138 proband families (experimental sample) and 2268 to 138 control families (control sample).

The following facts clearly emerge:

1. There is a highly significant proportion of cancer cases among relatives of the probands.

2. The incidence of cancer cases is highly significant either in probands' generation or in parents' and grand-parents' generations.

3. The higher frequencies are found in mothers' and sisters' groups.

4. The sites preferably interested pertain to the gastro-enteric and genito-mammarian apparatuses. The ovary is relatively highly represented.

These facts are an evidence of a not casual aggregation of cancer cases in probands' families. Therefore a family factor must be postulated, at least as a co-factor, in the pathogenesis of the ovarian cancer. Nothing however, may be said, on the basis of this research, about the real nature of that factor, even though the orientation towards the hypothesis of its hereditary nature seems sufficiently founded.

The complex serologic behavior of the Rh-Hr agglutinogens has been underlined by the recent discovery that, with very rare exceptions, associated with blood factor Rh0 of Rh-positive blood, there are numerous other blood factors which we designated RhA, RhB, RhC. Rare Rh-positive individuals exist whose bloods have blood factor Rh0 but lack one or more of the other components. Such individuals can and have become sensitized to the missing blood factor. For example, in the case of an Rh-positive individual lacking blood factor RhA, anti-RhA may be produced. So, too, when RhB and RhC, are lacking, anti-RhB or anti-RhC may be produced. In fact, all 3 have been identified. The resulting anti-RhA, anti-RhB and anti-RhC serums are indistinguishable from “standard” anti-Rh0 serum in parallel tests on a random series of blood specimens, unless the series happens to include one of the rare Rh-positive bloods lacking blood factor RhA (type Rh0a or type Rh1a, etc.).

In the present paper, anti-RhA serum from a sensitized type Rh1a mother whose child had erythroblastosis was used for studies on the distribution and heredity of the RhA blood factor. In addition, attention is called to the fact that Unger and Wiener have identified anti-RhB and anti-RhC although they are reporting at this time their studies with anti-RhA. A total of 2012 blood specimens from Rh0-positive individuals were tested; 951 from Caucasoids and 918 from Negroids. In tests on blood from Caucasoids, a “standard” Rh0 blood factor was invariably associated with a “standard” RhA blood factor. In no instance where the reactions with anti-Rh0 serums were typical was the RhA factor absent or a variant. However, if the Rh0 factor was a variant, 3 possibilities with regard to factor RhA were identified. Either factor RhA was “standard”, or factor RhA was a variant, or factor RhA was absent. This last possibility rarely occurs in Caucasoids since in our series only 1 Caucasoid blood or 0.1 percent lacked RhA blood factor and in that case the Rh0 factor was a variant.

Among the 918 Rh-positive blood specimens from Negroids examined the situation was found to be somewhat different. While a “standard” Rh0, was almost always associated with a “standard” RhA, in 0.9 percent the RhA factor was absent. Among bloods with a Rh0 variant blood factor, just as with Caucasoids, all 3 possibilities were identified, namely bloods with “standard” RhA, with RhA variant, and also bloods with blood factor RhA absent. The incidence of Rh-positive bloods lacking factor RhA was considerably higher among Negroids than among Caucasoids, namely, 1.6 percent in Negroids, as compared with only 0.1 percent in Caucasoids.

One interesting family was studied. The father's blood had the “standard” Rh0 blood factor, but lacked the RhA component (type Rh0a). The mother's blood had the Rh0 variant blood factor, and also lacked blood factor RhA (type ). The child's blood was of the same type as its mother, namely, Rh0 variant and lacking blood factor RhA (type ). The possible genetic explanations for these observations and their clinical significance were discussed.

Transplants of vesical mucous tissue in the dog to an animal of opposite sex keep their own sex karyotype.

This seems to prove—to the contrary of what takes place for leucocytic sex corpuscles—that the sex karyotype of some cells does not undergo alterations under the action of hormone impregnation.

Of 200 students from Southern Sweden 32 per cent were non-tasters for phenyl-thio-urea.

A survey of the existing literature on the subject reveals that this anatomical variation has been even recently considered as morbid form. All the known information, however incomplete, concerning the shape, frequency, distribution according to sex and age, time of onset and development of the formation, is reported.

Little is known concerning the etiology of this hypertrophy: it has appeared as linked with race groups (Eskimo, American Indians, Mongols) and with family groups.

This appears to be substantiated by the observations — herein reported — made on 12 twin pairs, of which 9 are MZ and 3 are DZ. All nine MZ pairs are concordant as to torus; one of the three DZ pairs is already discordant.

As the concordance of MZ twins for a single trait generally indicates that it is inherited, we can consider tours palatinus as a morphological variation of a hereditary genie trait peculiar of some race — and family — groups.