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.

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.

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.

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.

The Authors studied 60 individuals bearing a positive test of sickle shaped cells (40 healthy bearers and 20 sick people).

Drepanocytosis besides causing a Splenomegalic haemolitic disease in an homozygous state can also cause it in pure heterozygous individuals of high expressivity. Thalassodrepanocytosis due to a more frequent occurrence of thalassemia is found with a greater occurrence than sickle cell anaemia in Sicily.

A patient showed a Salmonella osteomyelitis and two more a syndrome of acute abdomen due to a splenic occlusion.

The study of myelograms showed in all the patients (drepanocytosis, thalassodrepanocytosis) a clear erythroblast hyperplasia.

A cytometric study of the different aspects of the erythron was carried out.

The study of Hb composition made through paper electrophoresis and the amount of alkali resistent Hb showed in the patients bearing sickle cell anaemia the presence of a unique band with the speed of Hb S and the coexistence of different amounts of Hb Ar (normal values to 33,6%observed in a pure etherozygous). Quantities of Hb Ar above the norm where always observed in thalassodrepanocytosis, but the electrophoretic finding, due to the coexistence of Hb A, ran from the shaded unique band to two distinct bands.

A method for the preliminary analysis of a maximal number of urinary amino acids has been devised, which is based on preliminary ‘purification’ and desalting of each specimen prior to its subjection to two-dimensional paper chromatography. Aliquots of processed and concentrated specimens are standardized to quantities of alpha-amino acid nitrogen as determined colorimetrically.

Densitometric index values were analyzed for sex differences and for intrapair differences comparing genetically related and unrelated pairs. Significant sex differences were observed for five substances. Significant deviations between intrapair differences of genetically-related and control pairs were observed for ten substances. The results are compatible with the hypothesis that quantitative differences in the respective excretions involve genetic factors.

The authors describe a case of « situs viscerum inversus totalis » in two DZ twin-sisters.

They debate, on the basis of the elements in their possession, whether they have to do with DZ or MZ twin-sisters, and declare in favour of the former hypothesis. Accordingly, this is the fifth case described of such anomaly in twins, after the cases of Reinhardt, Pezzi and Carugati, Boccia and Maglione, Kean, and it is the first case in DZ twins.

The authors think the case described will contribute in winning for DZ twinship an acknowledgement of real twinship, according to Gedda's statements.

The Author reports ten cases of affections similar to Marfan's Syndrome and, on the basis of the already rich bibliography, divides them into two groups:

1) cases 4, 5, 6 and 7 appear to suffer from Marfan's Syndrome with all its characters;

2) cases 1, 2, 3, 8, 9 and 10 seem to suffer from another affection, similar but identifiable through some factors such as the different anatomical substratum, possibly the etiopathogenic cause and, mostly, the lack of heredity.

The Author therefore advocates further careful studies of all the factors present in the ascertained cases of Marfan's Syndrome, and the separation of other cases that, much as they may be similar, differ in one or more factors of which heredity is the most significant.