Twenty-one couples with complete sets of triplets aged between four and six years were interviewed about their experiences of being “triplet parents”. The diagnosis of triplets had been a shock for most. All triplets were born prematurely, the mean birth weight being 2,000 g. The first time at home was chaotic for most of the parents. They spent more time organizing and arranging their day and less time on emotional care than did parents of single infants. Growing up as a triplet, with constant competition for attention, stimulation and love from the mother (parents), differed a great deal from the situation for singletons and twins.

The early relationship between mothers and triplets must be managed differently from that between mothers of singletons and twins. The study shows how important it is for obstetricians, paediatricians and other professionals to understand the specific needs of these families.

Objective. To determine the correlation between quantitative measurements of antepartum uterine activity and cervical change twin gestations.

Methods. Forty women from our Twin Clinic constituted the study group. Participants had a cervical examination each week between 20 and 37 weeks gestation and a cervical score (CS) was calculated as follows: CS = cervical length (cms)-cervical dilation (cms) at the internal os. The women also performed blinded home uterine activity monitoring (HUAM) for a mean of 7.0+3.0 hrs/wk (+SD). Uterine activity was expressed as mean number of contractions/hour/week gestation based on the average of three independent reviewers. CS was determined by a single clinician unaware of the HUAM recordings. A significant change in the CS was defined as a reduction of at least 0.5 from the preceding week. Correlation coefficients were used to determine the association between uterine activity and change in the cervical score.

Results. Twin pregnancy was characterized by a rise from 0.2 + .03 contractions/hr at 20 weeks to 3.2 + 2.4 contractions/hr at 37 weeks gestation. CS fell from a mean of 2.6 + 0.2 at 20 weeks to −2.1 + 0.9 at 37 weeks gestation. There was a significant negative correlation (−0.317, p<.0001) between increasing uterine activity and decreasing CS. There were significantly more (p <.002) contractions during the 7 days preceding a significant reduction in CS (3.3 + 3.5 contractions/hr) than when the CS was unchanged (1.6±1.5 contractions/hr).

Conclusions. In twin gestations, an increasing frequency of uterine contractions is strongly correlated with quantifiable cervical change between 20-37 weeks gestation. Persistent daytime contraction frequencies of >3/hr represent a risk factor for cervical dilation and/or effacement.

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).

There were 150 deliveries of twin pregnancies over 26 weeks in our hospital. The incidence of twin pregnancies was 1.0% in a population consisting of Greek nationals. Seventy five (50%) were term at delivery whereas 75 (50%) were premature (mean gestational age at delivery 36.5 weeks). The birth weight at delivery ranged from 350 grs to 4,050 grs with mean birth weight for the 1st and 2nd twin of 2,404 grs and 2,384 grs, respectively. One hundred and forty four (48%) neonates had weights between 1,501 to 2,500 grs. Twenty two (9.57%) neonates had weights between 1,501 grs to 2,500 grs. The perinatal mortality when birth weights exceeded 1,500 grs was 7.32%. In total, 186 (62%) newborns were delivered vaginally and 114 (38%) by cesarean section. Forceps were used in 4.33% of the cases and breech extraction was performed in 2.33%. The mode of delivery and perinatal mortality rates were not correlated for both twins (p>0.05). The most common causes of death were hyaline membrane disease (48.5%), immaturity (18.2%), congenital abnormalities (15.1%), septicemia (12.1%) and asphyxia (6.06%). Prematurity seems to constitute the most common cause of perinatal deaths while the mode of delivery found to be irrelevant to perinatal mortality.

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 monozygotic (MZ) twinning rate in Japan had remained nearly constant from 1975 (3.74 per 1,000 births) to 1994 (4.23), whereas the dizygotic (DZ) twinning rate had remained nearly constant from 1975 (1.86) to 1986 (2.27), and had gradually increased up to 1994 (3.89). The higher DZ twinning rate since 1987 has been attributed to the higher proportion of mothers treated with ovulation-inducing hormones and partially attributed to in-vitro fertilisation in Japan. As for maternal age, MZ twinning rates have remained nearly constant for maternal age groups except the youngest and the oldest age groups. On the other hand, DZ twinning rates increased up to the 35-39 years of age group and decrease thereafter. In 1994, the twinning rate was higher in DZ twins than in MZ twins for maternal age groups of 30-34 years and of 35-39 years. As for geographical variations in twinning rates, DZ rates statistically significantly increased with the year during the period from 1986 to 1994 in 31 out of 47 prefectures. In 1994, twinning rates in 21 out of 47 prefectures were higher in the DZ than the MZ rate, and the DZ rate is equal to the MZ rate in two prefectures. Geographical variations in twinning rates by zygosity in 1994 drastically changed from those during the period from 1955-1959 and in 1974.

Zygosity of triplet births in Japan was estimated by Allen's equation with the assumption that the rate of dizygotic (DZ) triplets reflects that of twins. Whereas the DZ triplet rate increased during the period from 1975 to 1994, reflecting the increase in the DZ twinning rate in the period, monozygotic (MZ) triplet rates remained constant from 1975 (28 per million births) to 1994 (23). The trizygotic (TZ) triplet rate gradually increased from 1975 (18) up to 1985 (29), and rapidly increased thereafter to 1994 (202). The higher TZ triplet rate since 1986 is most likely attributed to the higher proportion of mothers treated with ovulation-inducing hormones and partially to in-vitro fertilization in Japan. As for maternal age, MZ triplet rates remained nearly constant for all the maternal age groups except the youngest and the oldest ones. On the other hand, TZ triplet rates increased up to the age group of 30-34 years and decreased thereafter in almost every year. The TZ rate in the age group of 30-34 years slowly increased from 1975 to 1988 (63 per million births) and rapidly increased thereafter (314 in 1994). The TZ rate was statistically significantly higher in the period 1986-1994 than in the period 1975-1985 in each of the nine districts in Japan. Geographical variations in the TZ rates in the latest period have drastically changed from those during the period from 1955-1959 and in 1974.

The polymorphisms of constitutive heterochromatin regions, present on chromosomes 1, 9, 16 and Y, are inherited in a Mendelian fashion. The C-band heteromorphism has been reported to be associated with various types of cancer. Heterochromatin is considered to play a role in protecting genome against the mutagens. Changes in the quantity and proportion of the different types of satellite DNA might increase the genetic susceptibility in people with heterochromatic variations, which in turn cause chromosome instability and predispose the individual to cancer. We report a case of bilateral retinoblastoma with complete absence of pericentromeric heterochromatin on one of the chromosomes number 9. A similar deficiency of pericentromeric heterochromatin on chromosome number 9 and 16 has been reported in a phenotypically normal individual and a Down syndrome case, respectively. This deficiency was found to be inherited from the father in all the three cases. Complete absence of pericentromeric heterochromatin of chromosome 9 is not being reported in association with cancer syndromes. Further studies are necessary to understand the role of this factor in normals and in those with cancer susceptibility, specially with retinoblastoma and the paternal origin of this deficiency.

The authors describe the case of gastroschisis and Dandy-Walker syndrome of the surviving fetus after the intra-uterine co-twin demise in a monochorionic twin pregnancy.

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.

The sexual index included in the Szondi test makes it possible to define the domains of an individuals “internal sex” or gender – especially the degree of the subject's bisexuality. This index was employed in a comparison between partners reared together in 62 monozygotic and 23 dizygotic pairs of twins. The observed incongruence in 1/3 MZ pairs would not appear to derive totally from errors of measurement. In most of these pairs it is competition which underlies the incongruence seen on the sexual index. It was further observed that the congruence here as in general in female pairs is clearly more marked than in males. A hypothesis was proposed, whereby competition for dominance is a distinctively major-tonality (masculinity) characteristic. The incongruence is more conspicuous among males because males are in general more markedly major-toned than females. This hypothesis was borne out. It is thus necessary here as in general to adopt two sex variables in parallel: external (i.e. matricular) sex and internal sex (gender). It is due to the presence of these competitive pairs that the means and especially deviations of twins' test results will consistently diverge from those in the population at large.

Objective. To test the hypothesis that the (case) twin later to succumb in utero has biparietal diameter measurements (by ultrasound) different from those (control) twins surviving the perinatal period.

Material and methods. Information from the Medical Birth Registry, National Board of Health and Welfare, Stockholm, was used to identify all births in a defined population in southern Sweden with about 20,000 deliveries each year. In 3,019 twin pregnancies between 1973 and 1989, one or both twins were stillborn in 47 cases (gestational duration ≥28 weeks, birthweight ≥500g.). For each case pregnancy, two control pregnancies were selected, the matching criteria being: same delivery unit, same parity (0, I, II, III+), similar year of delivery (± 1 year) and maternal age (± 5 years). Data on ultrasound examinations were extracted from the original medical records. Screening in early second trimester started at one of the units as early as 1973 and at the latest of 12 units in 1982.

Results. There was no obvious difference between cases and controls in intra-pair discordant biparietal diameter (BPD) measured in early second trimester. Nor was there any evident difference in the rate of deviant BPD between cases and controls. In all, 8% of dead male and 24% of dead female fetuses were by definition small-for-gestational age (<-2 standard deviations).

Conclusions. No significant difference was seen between cases and controls regarding deviating biparietal diameters. Abdominal diameter may be a better predictor of subsequent fetal death (not analysed in this study), though only about 15% of all dead twins were deemed small-for-gestational age.

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.

Finnish mothers with Järvi-Hakola-Nasu disease, progressive dementia with lipomembranous polycystic osteodysplasia (McKusick 221770) have a high rate of twin maternities, 128.2/1000. The exact 99% confidence intervals are 28.7 – 322.2/1000, thus above the average twinning rate in Finland, i.e. 15/1000. This eightfold increase in twinning may be an indication of a disturbed cortico-hypothalmic-hypophyseal axis or an other premorbid hormonal imbalance. It is concluded that even if dizygotic twinning is as a rule an event in itself, not only iatrogenic factors, as ovulation inducers, etc., but also some genetic disorders may be associated with twinning. More studies are needed to elucidate the incidence of twinning in families with these disorders.

The authors present gastroschisis which occurred in a surviving fetus after the co-twin demise in a monochorionic pregnancy. They analyze the problems of prenatal ultrasound diagnosis of gastroschisis stressing the adequate planning of delivery with necessary additional diagnostic and therapeutic efforts.

Trends of twinning rates were analyzed using vital statistics in Austria, Finland, Norway, Sweden, Canada, Australia, Hong Kong, Israel, Japan, and Singapore during the period from 1972 to 1996. The twinning rates increased significantly year by year in each country. During these periods, the twinning rate increased by twenty percent in Austria and Canada, and by sixty percent in Norway and Sweden. The twinning rate was 1.6 times higher in Sweden than in Hong Kong in 1972 and by eighty percent in Israel in 1995. Twinning rates were higher in European countries, Canada, and Australia than in Asia. The variations of the twinning rates among countries were not only due to biological factors, but also to assisted reproductive techniques. In Australia, the overall twinning rate was 1.3 times higher in the nuptial births (14.1 per 1000 births) than in the ex-nuptial births (10.7) during the period 1994-1996. As for maternal age, twinning rates in Sweden increased year by year for maternal age groups except the youngest and the oldest age groups. In Sweden, the rising twinning rate has been attributed to the higher proportion of mothers (for the 25-39 year old age groups) treated with ovulation-inducing hormones and attributed to in-vitro fertilization.

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.

Data on susceptibility to motion sickness were collected on a sample of 535 individuals divided into eight groups. The prevalence of motion sickness among Tibetans and Northeast Indians (28%) was slightly higher than Northwest Indians (26%). Generally speaking, females (27.3%) were more susceptible than males (16.8%). Among different groups, the highest incidence of susceptibility to motion sickness (SMS) was recorded in schizophrenic patients (30%), while the lowest in rowers (zero percent). Ears and eyes are the most potent receptors of provocative motion that causes sickness. Individuals with greater spatial and motor control, reflected in sports like rowing, athletics and professions like armed and paramilitary forces, were less susceptible to motion sickness.

The SMS was significantly higher in individuals who suffered from spatial disorientation (35.05%), migraine (26.31%), gastrointestinal disorders (26.82%) and those who were more sensitive to unpleasant odours (24.64%) and preferred sweet flavours (24.48%) than their counterparts. These correlates have been utilized to explain the genesis of sickness using threshold model. Genetic and environmental pathways are strongly advocated. Past episodes of motion sickness acted as a strong psychological attribute in determining further episodes. The roadway buses and trucks proved more effective passive transportation types that caused sickness. The voluntary stabilization of the head and neck movements and gaze control proved very effective natural measures adopted by 38% subjects to avoid or limit motion sickness. About 50% of susceptible individuals became less susceptible or fully acclimatized to motion sickness due to habituation. The mean age at acclimatization was 21.98 ± 5.93 years.

Birth statistics over a period of 5 years were analyzed to study epidemiological characteristics of twinning in Southeast Uttar Pradesh, India. The data revealed higher incidence of breech twins (11.84% of all cotwins) as compared to breech single births (2.18%). But the perinatal mortality and caesarean section rates were similar in both twin and singleton pregnancies. The cumulative twinning rate over the studied period was 11.70 per 1000 live births. The MZ and DZ twinning rates were estimated respectively as 3.67 and 8.03 per mill. The mean maternal age of sampled mothers was 26.42 years with one standard deviation of 5.30 years. The twinning rate for mothers over 35 years of age was about four times higher than that in mothers younger than 20 years. Incidently, the twinning rate was the highest at parity four and a non-linear curve could more appropriately be fitted to the series of data. Seasonal variations were observed for both twin and singleton births. The highest frequency of births was observed from August through October. But seasonal index for twinning rate showed a clear bimodal distribution with peaks in April (223) and September (167).

234 pairs of twins were studied from pregnancy up to 21 years of age on the basis of records from maternity hospitals, neonatal wards and children's health centres and questionnaires filled in by the parents when the twins were aged 2-10 and 12-21 years, and by the twins themselves at age 12-21. 74 twins were personally interviewed about human relationships in their families and with the Present State Examination (PSE) at age 15-21.

When the evaluation of parental preference was made by the parents, the mother's favourites had learned to speak earlier and were more often the psychic leader of the pair, but they more often had sleeping difficulties and other psychosomatic symptoms in adolescence. They were most often scored in class 2-3, non-specific neurotic symptoms in the PSE, but none of them was placed in the higher classes of possible or probable psychiatric disorder. Mothers seem to develop a tighter affectionate bond towards their favourites than do fathers, thus inducing a good basic trust and faster language acquisition in childhood, but probably also transient non-specific neurotic symptoms in adolescence in face of the developmental task of entering autonomous adulthood. The father's favourites were more often the physical leaders of the pair, showed less accident proneness and most often reported tendencies towards autonomy from their co-twins, thus indicating that the fathers' attitudes may be more encouraging towards independence. As the least psychosomatic symptoms were seen in twins in the intermediate position regarding parental preference, it seems reasonable that the division of twins between parents on the grounds of favouritism should not be strict.