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 Authors report a case of translocation 21/21 in a woman who, after two miscarriages, gave birth to a mongoloid daughter — dead a few days after birth. The chromosomal aberration was present in 100% of the plates examined.

Occasional chromosomal alterations, found in the patient's karyotype, might be held responsible of small phenotypic alterations. No alteration was found in the husband's karyotype.

Two familial cases (father and son) of Addison disease, occurred after « asian influenza », are reported.

Clinical data suggest tat the pathological basis for adrenal insufficiency could be the so-called « simple fibrosclerosis » and that virus infection has acted as a precipitating factor of an underlying adrenal meyopragy, since both patients as well as other members of the same familyi have a hyperpigmentated skin.

The two patients have shown a Addison syndrome « partially compensate » with incomplete symptomatology for lack of functional adrenal reserve which has been detected only by ACTH stimulation (which was inefficient).

As far as we know, this is the first report of a chronic hypercorticalism occurred in the father and one of his sons.

A total of 146 twin pregnancies were studied to evaluate the importance of bed rest. A significantly reduced frequency of preterm delivery was found after bed rest in hospital as compared to bed rest at home or no bed rest at all. An increase in gestational age and in birth weight was seen after bed rest. No effect was found on the intrauterine increase of fetal weight per time. Early routine ultrasound is recommended, so that effective bed rest may be instituted in due time.

Present status of genetic and anthropological knowledge concerning haptoglobins, and report on the results of a survey carried-out on 141 subjects from Campania: Hp 1-1, 15 (10.6%); Hp 2-2, 60 (42.6%); Hp 2-1, 66 (46.8%); gene Hp1, 34.1%, gene Hp2, 69.1%.

Furthermore, a geographical peculiarity of haptoglobins is stressed, i.e. a rise in the frequency of the Hp2 gene from Westward to Eastward.

Inherited tapetoretinal degenerations associated with, or caused by, abnormalities in lipid metabolism are discussed in terms of recent findings regarding their etiology. The biochemical basis of these tapetoretinal degenerations may be summarized as follows.

(a) In abetalipoproteinemia (the Bassen-Kornzweig syndrome) there is a complete absence of all plasma lipoproteins except HDL (alfalipoprotein; high density lipoprotein). In addition the levels of plasma lipids, including vitamin A, are grossly dimished. The genetically-caused basic defect in this disorder is the absence of a specific protein component, apoLP-ser, in the plasma lipoproteins.

(b) In a milder form of hypobetalipoproteinemia, transmitted as an autosomal dominant trait, there is little, if any, retinal degeneration.

(c) Refsum's syndrome is characterized by greatly increased plasma levels of phytanic acid, a 20-carbon branched-chain fatty acid. This substance is not synthesized in the body, but originates from dietary sources only. Patients with Refsum's syndrome lack the enzyme (phytanic acid oxidase) necessary to oxidize this fatty acid, and its accumulation in the tissues has severe consequences. Therapeutic measures, consisting of restriction of dietary phytanic acid, have given encouraging results.

(d) Three forms of Batten's disease (neuronal ceroid lipofuscinosis) are now recognized. These are (1) the rapidly progressive (Jansky-Bielschowsky) form, (2) the chronic (Batten-Mayou-Vogt-Spielmeyer-Sjögren) form, which is the most common, and (3) the late onset (Kufs') form. All are associated — to varying degrees — with an accumulation of autofluorescent ceroidlipofuscin pigments. The enzymatic defect is believed to consist of abnormalities in peroxidase enzymes.

(e) Other tapetoretinal degenerations thought to be associated with defects in lipid metabolism are discussed briefly. These include Hooffs disease, Cockayne's syndrome, and Alstrom's syndrome.

A BASIC computer program designed to facilitate analysis of twin data is presented. The program estimates genetic parameters and tests their statistical significance based on the genetic and environmental hypothesis.

The relation between spontaneous abortions and twinning was studied in the years 1980-1981 in 22 towns of the South Moravian Region, Czechoslovakia. Each town has more than 10,000 inhabitants and less than 750 births per year. The number of spontaneous abortions and the number of twin births were evaluated separately for each town and for a time unit of three months. The comparison indicated that the group with a higher number of spontaneous abortions also had a lower number of twin births. The relation between spontaneous abortions and twinning is discussed.

In a Swedish longitudinal twin study, teacher ratings of school adjustment were collected in grades 3 and 6 for approximately 80 pairs of MZ twins, 100 pairs of DZ like-sex twins, and 70 pairs of opposite-sex twins. These same groups of twins then rated their own school adjustment in grades 4 and 6 as seen by the home, the school, their classmates, and themselves.

A comparison of within-pair similarity for the different types of self-ratings tends to show more consistency and a higher concordance for MZ compared to DZ in grade 6 than in grade 4.

The teacher ratings tend to show a larger and more consistent difference between MZ and DZ than the twins' own ratings.

The results reported have certain implications for heritability estimates based on different types of ratings. Ratings by others thus seem to give the highest intraclass correlations, probably due to a certain halo effect. Self ratings, on the other hand, tend to fluctuate more over time at least for children before and at puberty. Also the construction of items seems to influence the magnitude of the correlations.

The term Pharmacogenetics is defined as the study of genetically determined variations in animal species which are revealed by the effects of drugs.

I am going to deal with examples of these variations which have been found in Man. I must apologise for a certain amount of repetition of some facts which have already been aired in this conference, but it is my intention to give you a bird's eye view of the subject.

The authors briefly describe their old and recent research work on the etiology of leukemia, and discuss the genetic-viral hypothesis of human leukemia. The injection of human leukemic blood in fertilized chicken eggs, before incubation, causes a severe disease in the embryos. This disease is characterized by the fact that the hemoblasts are extremely atypical, and loose the ability to produce intravascular blood cells, while they form perivascular infiltrates. The disease is indefinitely transmitted from egg to egg, also using acellular filtered material. The transmissibility is inactivated by heat. In conclusion, we can say that the observations described strongly support the viral etiology of human leukemia and suggest the hypothesis that the virus might be responsible for a somatic mutation of the blasts.

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.

This study falls in the areas of both differential psychology and twin psychology. Using the EFT and the WCST (computerized version), we examined 11 MZFF pairs between 18 and 35 years of age. The aim was to establish the genetic and/or environmental determination of global-analytical cognitive style as well as some characteristics of conceptualization linked to field dependence. The research strategy consisted of introducing three other groups of the same size to control the weight of environmental factors different from those determined by subject selection. The results seem to support the hypothesis of genetic determination of field dependence of the MZFFs, probably linked to the XX chromosome combination. The “couple effect” and the attitude of parents and others toward two identical female subjects may contribute to full expression of the genome. The characteristics of conceptualization revealed by the WCST show that MZFFs persevere in errors typical of a global approach to experience.

The origins and development of human, medical and clinical genetics are interwoven and yet each of these disciplines follows its own path.

The beginnings of a systematic human genetics can be traced to the middle of the 19th century, but it took human genetics almost 100 years to mature fully and influence medicine. Its origins can be traced to the work of three scientists: Galton, Pearson and Bateson.

In 1865, 6 years after Darwin had published Origin of Species in London, and the year when Mendel's paper, “Experiments on Plant Hybrids”, was published in Brunn, Galton, also in London, set out his first ideas on human heredity. His thinking then developed in two directions. The first laid the foundations for the scientific study of human heredity through biometrics and quantitative genetics. This part of Galton's thinking is summarized in his epitaph: “the dominant idea of his life's work was to measure the influence of heredity on the mental and physical attributes of mankind”.

Galton's other line dealt with the application of heredity through eugenics, a word that Galton coined to signify “well bred”. He wanted, I quote his words: “to produce a highly gifted race of Man by judicious marriage through several generations”. Families of merit should be identified and positively encouraged to breed; conversely, the “ weak could find a welcome … in celebrate monasteries”.

The number of AgNOR (NOR+) and the amount of AgNOR (NORM+) were analysed by means of two multilevel analyses of variance in a total of 12 twin pairs: 3 female and 4 male MZ and 5 male DZ pairs. In the first analysis, only zygosity was controlled; in the second, chromosome types D and G were controlled as well as the interaction between chromosome type and zygosity. For NOR+ and NORM+, when chromosome types D and G are not distinguished, the within-pair variance is greater, though not significantly, in DZ than in MZ pairs; but it is highly significantly greater when chromosome type (D or G type) is under control. This confirms an important genetic determination of NOR+ and NORM+ when in the ANOVA model the D and G types are controlled. However, nongenetic factors also influence the Ag-NOR patterns, but not enough to conceal the genetically defined rDNA pattern. Indeed, about 50% of the cells transcribe their rDNA in a way not closely dependent on the rDNA background and significant intrapair differences of NOR+ pattern exist in MZ twins.

Our starting point was Franz Alexander's well-known hypothesis about the hypertensive personality. According to Alexander (1939), hypertensive patients are characterized by a neurotic conflict between passive dependent tendencies and over-compensatory, competitive, hostile impulses. Hypertensive patients seem to be anti-aggressive, submissive, polite, and reserved. At the same time, they show no direct neurotic symptoms such as anxiety, obsessive ideas, or conversion symptoms. Hypertension may be looked upon as a substitute for symptom neurosis. According to Alexander, hypertensive patients are unable to express freely aggressive impulses, and at the same time unable to repress or absorb the impulses through symptom formation. An accumulation of psychic energy takes place, which manifests itself in constant vasomotoric stimulation. In the long run, this development may be able to change the balance of the baroceptors and finally destroy the circulatory system.

A sample of MZ twins is particularly suitable for studying the influence of inhibited aggression on blood pressure. In addition to the methodological advantages of controlling the genetic and external environmental factors of childhood, one frequently finds a casting of roles with one of the twins dominant and aggressive, and the other as a submissive and timid partner.

The authors examined the manner of clasping the hands (HC) and folding the arms (AF) in 415 unrelated pupils, aged from 9 to 15, of the Budapest school “Horváth Imre”. As refers to HC, 54.2% of the total material was found to be «L» (55.2% in ♂ and 53.2% in ♀), while concerning AF, 62.9% of the total material was found to be “L” (60.4% in ♂ and 65.5% in ♀). No significant difference between sexes could be observed. On the basis of a test constructed by the authors and supposed to be connected with handedness, every pupil examined was marked by a “point number for left-handedness” (PNLH). New observations drawn from our data are: (1) the PNLH average of right-handed pupils is somewhat higher in ♂ than in ♀ (2) a higher PNLH average is found, both for HC and AF, in the group of “L” individuals; (3) as the most striking phenomenon, the group of “R” type girls for HC (marked as “1”) contains a significantly high number of“absolutely right-handed”. This observation suggests that there may be a latent connection between HC, AF and laterality, but the lack of a simple and manifest coherence between these characteristics makes it inadequate to apply HC and AF as tests for handedness.

On the basis of serological observations in male twins of group A2 with irregular Anti-A1 (α1,) agglutinins in the serum the possibility of an inheritance of these antibodies is indicated. Further additional five individual observations are included.

Simultaneously it was possible to obtain in the above indicated twins a triple group-and factor paternity exclusion.

The following is proposed:

1. To place on a broad basis the examination of the inheritance of irregular Anti-A1 -Agglutinin.

2. To evaluate the previous «exceptions» to the rules of genetics concerning the system of blood groups and blood factors in the light of the currently known serological and anthropological armentarium.