Nelle aule delle Università di Pavia, Milano e Torino che ho frequentato a motivo dei continui spostamenti della mia famiglia ho trascorso e concluso il mio “curriculum” conseguendo la laurea in Medicina nel 1927 e poi la Libera Docenza in Patologia Speciale Medica nel 1931.

Nel mio trasferimento a Roma ebbi l'intuizione della Genetica studiando i caratteri somatici di una coppia di gemelli identici osservandone la concordanza contemporanea caratteristica ed in particolare la concordanza anche quantitativa di polimorfismi ematici, in particolare delle frazioni del glutatione ematico. Le concordanze nei gemelli monozigotici mi aprirono la strada alla genetica. Questo avvenne nel 1933.

Nel 1938, ebbi occasione di conoscere Madre Luisa Tincani che avendo fondato un Istituto Superiore parificato per religiose si trovava in difficoltà perché avrebbe dovuto rispettare il decreto del Governo fascista sull'insegnamento delle leggi razziali. Ritenni che avrei potuto aggirare l'ostacolo insegnando a quelle religiose le leggi di Mendel che sono il punto di partenza per lo studio di ogni carattere ereditario normale o patologico.

Quel mio corso andò benissimo in quanto insegnai non solo le leggi di Mendel ma conobbi la figura di un grande personaggio sacerdote, confessore dei prigionieri nel carcere dello Spielberg e Abate che, nel giardino del convento conduceva le sue esperienze che ebbero come oggetto principale il pisum sativum. cioè il pisello.

Mentre andavo approfondendo la mia conoscenza dell'Abate agostiniano Gregorio Mendel mi sorprendevo che a Roma non ci fosse nessuna traccia di lui. Di qui nacque l'idea di creare in Roma un Istituto dedicato alla Genetica che portasse il suo nome anche perché questa scienza aveva, nel frattempo, fatto dei passi giganteschi, per cui progettai di costruire nelle adiacenze della Università “La Sapienza” un Istituto che portasse il nome di Mendel (Fig. 1).

The subject of cloning has had a deep impact on both public opinion and the scientific community, asking themselves about its meaning, its possible extension to humans, its potential applications and implications.

Cloning was often presented by the media as a technique that would allow perpetuating oneself.

The resulting impact of cloning on public opinion might be interpreted, in part at least, as making real the dream of reincarnation.

In the Christian faith cloning, as a hypothesis of reincarnation, has no place, since the soul is already immortal, while the body dies (excepting its reunion with its soul on the resurrection of the last day).

Thus a person's immortality is a dogma of faith for the believer, but only as immortality of the soul, that will rejoin its body only at the end of earthly time, while in our “earthly time” the body is-mortal.

The body's mortality is part of natural biological processes. Only in primitive organisms, such as bacteria, and in organisms reproducing through scions or similar processes (as farmers and florists well know) it is harder to set a definite moment for the birth or death of a single individual. But in sexually reproducing higher organisms, such as we are, the cycle of individual life is clearly encompassed and expressed by the well-known sequence whereby each individual “is born, grows, reproduces and dies”.

If we consider the individual in all its manifestations – what we geneticists call the “phenotype”, resulting from the interactions between genotype and environment – each subject is undoubtedly endowed with his individuality.

The repetition of the very same genotype does not mean repetition of the same individual, as clearly evidenced by the observation of identical twins (monozygotic, i.e., both derived from the same fertilized egg, the zygote) who, much as so closely resembling each other, are each endowed with his or her unique individuality.

The present genome era is characterized by speedy progress and prompt transfer of results into clinical practice. This creates the need for rapid disclosure of results and renewal of laboratory's protocols. Molecular cytogenetics has provided and increased ability to identify chromosomes, correlate chromosome structure with gene location, find out cryptic aberrations, and detect specific DNA sequences. These advances have allowed the confident discovery of a number of contiguous gene syndromes. The positional cloning and positional candidate strategies have greatly expedited the search process of disease genes, and become relevant methods for genes' discovery. Understanding the molecular basis of diseases has shown an unpredicted wide genetic heterogeneity, which has splitted single disorders into many clinically similar conditions, and added complexity to the nosology of human diseases. The opposite process, allelism, where clinical diversity results from allelic mutations, has lumped together many distinct disorders, by showing that different clinical entities are not necessarily due to mutations in different genes. Dynamic mutations have provided the molecular understanding of interindividual and intrafamilial variability including anticipation, in a number of diseases. The discovery of distinct correlations between the molecular pattern and disease severity is providing a unique opportunity for using molecular results to assess the clinical outcome. Diagnostic, presymptomatic and predictive molecular testing are becoming widely used and provide enormous opportunities for improving the lot of our patients.

Parents of a sample of 76 same sexed pairs of twins aged 3 to 9 months completed a mailed similarity questionnaire. It included the Bonnelykke et al.'s questionnaire and a four anthropological variable scale. To improve each of these two methods, three other combined methods were carried out and results were compared with the biological zygosity diagnosis. The Bonnelykke et al.'s classification combined with anthropological scale (method 4) gave only 1.2% misclassified in the whole sample. It is concluded that zygosity diagnosis using this type of procedure to distinguish MZ and DZ pairs would be important not only for epidemiological study but also for pediatricians and parents.

Background: Maternal nutrition has a strong influence on singleton and twin birthweight. This study evaluated the association between twin birthweight and maternal pregravid body mass index (BMI), weight gain, and cravings and aversions. Information was also obtained regarding sources of nutrition advice and advised versus actual weight gain.

Methods: This study is based on data from interviews with 928 mothers of twins. Univariate analysis included comparisons by source of nutritional advice, birthweight categories, and categories of cravings and aversions. Multiple logistic regression was used to formulate models for mean twin birthweights > 1,500 g and > 2,500 g.

Results: Mothers who received their nutrition advice from a registered dietitian had the highest weight gains and the lowest proportion of birthweights < 1,500 g. For mean twin birthweight > 2,500 g, the final model included prematurity, pregravid BMI, and weight gain; for birthweights > 1,500 g, the model additionally included maternal age and aversions.

Conclusions: Maternal pregravid BMI and gestational weight gain were shown to be important factors influencing twin birthweight. Nutrition advice, particularly from a registered dietitian, may be vital in assuring adequate weight gain, and therefore better birthweights, for these high-risk pregnancies.

Objective. The aim was to determine the chorionic and amniotic types in multifetal pregnancies with transvaginal ultrasonography at very early stage of gestation.

Study design. Twenty-one spontaneous multifetal pregnancies were scanned transvaginally before 8 weeks' gestation (four of them from 4th week). The chorionic and amniotic type was determined ultrasonographically. All twin gestations had postpartum pathologic evaluation of the placenta and histologic determination of the chorionic and amniotic type.

Results. Ultrasonographic evaluation of the 21 pregnancies demonstrated 20 twin and 1 triplet gestation. Four of the twin pregnancies were monochorionic-diamniotic. Triplet was monochorionic-triamniotic (spontaneously aborted in 8th week of gestation). In all 20 twin pregnancies, transvaginal ultrasonography correctly predicted the chorionic and amniotic type before 8 weeks of gestation.

Conclusion. Transvaginal ultrasonography allows a reliable, simple and rapid determination; the dichorionic twin pregnancy in 4 weeks, monochorionic in 5 weeks, and differentiation of mono-or diamniotic in 7 weeks of gestation.

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.