In a lecture to a group of physicians of sporting societies the Author presents the phenomenon of the family habit of sporting practice as the signo of the existence of a hereditary basis for sporting proficiency.

Referring to research by other Authors, and especially by Grebe, the Author relates the most significant case histories of family sporting practice afforded by Italian sports.

The hereditary transmission probably takes place through a mechanism of dominance; the Author suggests the method which can be employed in order to enact a genetical study of sports and of athletics.

1. Trenimon has three remarkable pharmacological characteristics, namely: very low toxicity, easy way of employing, big therapeutic action.

2. It results particularly useful in lymphatic and myeloid chronic leukemias, Vaquez's disease, hemorrhagic thrombocythemia, Waldenstrom's disease. It has to be noticed that Trenimon action is valuable in chronic myeloid leukemia even when it has been already treated with Busulphan for a long time.

3. Good results are obtained also in several cases of Hodgkin's disease, while the drug is less efficacious in Lympho-reticulosarcoma. Uncertain still being its action in plasmacytoma.

Remarkable progress in adapting specific chromosomal and biochemical tests to amniotic fluid samples has allowed intrauterine diagnosis for an increasing number of inherited conditions. However, the lack of any specific tests for autosomal dominant diseases, especially those affecting the nervous system and muscle, has precluded such prenatal evaluation in genetic counseling.

Genetic linkage offers a potentially useful alternative approach to such diseases. The gene for a particular disorder must be closely linked to a genetic marker which can be analyzed in amniotic fluid or cells obtained in the second trimester of pregnancy.

We have recently applied linkage studies to the prediction of myotonic dystrophy (Dm) during pregnancy. Dm is known to be closely linked to the secretor locus (Se), which determines the secretion of ABH blood-group substances into saliva and other body fluids, including the amniotic fluid of the fetus.

Only certain families will be suitable for this analysis: the affected parent must have thesecretor-positive phenotype and be heterozygous (Se/se) at the secretor locus; the coupling of the Dm allele to the Se or se allele must be determined; and the spouse must be either secretor-negative or heterozygous secretor-positive. Secretor genotypes can be inferred from secretor phenotypes of close relatives, including the fetus at risk.

Unfortunately, these criteria will be satisfied in only 5-10 percent of couples at risk to transmit myotonic dystrophy. In suitable couples, however, linkage analysis can be quite helpful.

A 10-year-old girl with tapetoretinal degeneration, renal dysplasia similar to juvenile nephronophtisis, gradually increasing mental deterioration, walking incoordination, obesity, and ichthyosis is reported.

Hystochemical analyses of the liver, spleen, intestine, lungs, myocardium, kidney, and brain, showed a glycolipid storage. A triglyceride storage in the liver was identified.

Triglyceride lipase activity was about 1% and acid lipase activity 10% with respect to normal controls.

A genetic factor, rather than a secondary metabolic inhibition of triglyceride lipase, is indicated by the normal activity of this enzyme in fatty liver from patients with Reye's syndrome and alcoholic cirrhosis. No inhibitor was found in triglyceride storage disease.

Source of data is “Survey on Socio-Economic Aspects of Vital Events – Plural Births in 1975”, including 12,392 twin pairs, 124 triplet sets, 7 quadruplet sets and 1 quintuplet set. Feal deaths were 3,285 for twins, 141 for triplets, 17 for quadruplets, and 5 for quintuplets, among which the numbers of birth defects were 78, 3, 0, and 0, respectively. Concordant twin pairs with the same category of birth defect were 20 among 56 pairs (0.36). As for the remaining 36 pairs, 2 pairs had different category of birth defects, 27 pairs had liveborn cotwins, and 7 pairs were both fetal deaths among which a twin had birth defect. The second-born twins had birth defects more frequently than the first-born twins among fetal deaths (28 vs 6).

Eight sweet tasters for P. T. G. found in a preceding investigation were retested with P. T. G. solutions by using a discriminating test method. Variations in the course of a single day and during longer periods were studied. It was observed that the consistency of sweet tasting for this compound varied intraindividually as well as interindividually. One of the females showed a high consistency of taste sensations for different concentrations. Three persons never reported a sweet taste sensation of a supraliminal concentration, although one year earlier they had described different P. T. C. solutions as sweet or sweet and bitter at the same time. The remaining four persons showed a varying consistency of the number of solutions stated as sweet tasting and the concentrations of these sweet tasting solutions. The reasons for the variations of the consistency are unknown. Such inconsistencies influence the result of investigations into inheritance of the trait.

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.

A sample of 47 MZ and 49 DZ pairs of Brazilian twins was investigated in relation to school achievement in six specific areas of study, as well as performance in the test of Dominoes, the Differential Aptitude Tests (DAT) and Griéger's Characterological Questionnaire. Significant F-ratios (variance within DZ/variance within MZ) were observed for the school grades obtained in five of the six areas considered, as well as for their general average; the same being true for the results on the indicated measure of general intelligence, six of the eight DAT tests, and two of the characterological elements. There is a clear positive relationship between the grades earned by the twins and their performance in the Dominoes test. Achievement in Portuguese and foreign language correlates positively with DAT's Sentences; and achievement in mathematics correlates positively with DAT's Numerical Ability, Abstract Reasoning, and Clerical Speed and Accuracy. The results show an agreement with previous estimates of the genetic determination of these variables, which is to a certain extent surprising if we consider the differences in sample sizes, age, and degree of schooling of the subjects, environmental differences, and the dissimilarities which exist between the homes and school systems of USA, Europe, and Brazil.

The concurrence of two experiments of nature, twins and congenital birth defects, provides a unique population for the elucidation of nature-nurture questions. Although the concurrence of twins with clefts is not common, their frequency in the aggregate of international reporting is sufficient to allow for meaningful studies.

In a recent conference on the genetics of cleft lip and palate, Fraser (1968) summarized the state of knowledge regarding etiology. The following quotation from his report is pertinent to the present paper:

1) In the majority of cases, cleft lip or cleft lip and palate [CL(P)] represents a quasi-continuous variant, or threshold character of multifactorial etiology. For cleft palate [CP] there is less convincing information;

2) Observations on arch form, face shape, body asymmetries and developmental variables suggest that such variants may underly the predisposition to clefts;

3) Twin studies may be useful in identifying the physiognomic factors predisposing to facial clefts.

With these concepts in mind, we initiated an analysis of 19 twin pairs selected from the continuing longitudinal growth study which began at our Center in 1949 (Pruzansky and Lis, 1958).

Three siblings were born of consanguineous parents (first cousins), two of which, our probands, affected by van Bogaert-Bertrand disease. Clinical diagnosis was made by cerebral biopsy of one of the two sisters.

The genetic research ascertained a schizophrenic paternal cousin and a girl cousin showing neurotic character and epilepsy. One maternal sister died with a picture of progressive encephalopathy that could be similar to the one showed by our probands. In this family syphilis was present for three subsequent generations.

The authors describe the essential symptoms of the disease and point out the present trend of biological research for the discovery of the supposed metabolic trouble.

Die Pelger-Huet'sche Kernanomalie ist bei Aezten und Laborantinnen nahezu unbekannt. Nur zwei von etwa 350 in Westfalen systematisch befragten Krankenhaus-Aerzten waren mit diesem Begriff vertraut. Jofin (1955) berichtet aus Russland über die gleiche Unkenntnis. Seit der ersten Beschreibung der Varietät durch Pelger (1928) sind in dreißig Jahren nach Petzel und Undritz (1957) bisher 110 unabhängige Pelger-Sippen veröffentlicht worden. Das Merkmal wurde beobachtet in Bevölkerungen aller Rassen.

Die erste Schätzung der Häufigkeit in einer unausgelesenen Population hat Undritz (1939) vorgenommen. Der Untersucher rechnet mit einem Vorkommen von einer Pelger-Familie unter tausend in dieser Beziehung unauffälligen Sippen. Nachtsheim (1946-1948) hat zuerst eine größere Bevölkerung auslesefrei untersuchen können: unter etwa 20.000 Berlinern aller Altersstufen fanden sich 18 heterozygote Merkmalsträger. Die Probanden waren nicht miteinander verwandt. Nachtsheim bestätigte damit die Schätzung von Undritz. Wiedemann und Saile (1957) untersuchten 15.000 Schüler in Krefeld. Die Jungen und Mädchen waren zwischen 9 und 19 Jahre alt. In diesem auslesefreien Kollektiv sind nur 3 heterozygote Merkmalsträger gefunden worden. Die Häufigkeit beträgt also 1: 5.000. Davidson (1954) fand unter 36.000 Blutausstrichen in London 6 Fälle mit Pelger'scher Varietät. Der Untersucher gibt die Häufigkeit mit 1: 6.000 an. Leider fehlen Angaben über die Methodik der Untersuchung. Yamasowa (1953) soll nach einer Mitteilung an Undritz (cit. G. Petzel und E. Undritz, 1957) bei 20.000 Japanern nur einmal die heterozygote Manifestation beobachtet haben. Die Frequenz der Pelger-Anomalie läßt sich nur bestimmen durch größere Reihenuntersuchungen. Vergleichbar sind bisher lediglich die Ergebnisse von Nachtsheim und Wiedemann. Diese Befunde weichen stark voneinander ab.

The Author reports a case of xifodimus tetrabrachius born in March, 1954, in the Hospital at Vipiteno (Italy) and, in the discussion, points out the improvement the case can bring about in the knowledge of double faetal malformations, their classification, their causes and their mechanism.

The mother had had a previous case of twin pregnancy.

The first-degree relations of 433 rheumatic propositi were examined for evidence of rheumatic fever (RF) or rheumatic heart disease (RHD). The families of 470 control propositi were examined in identical fashion. Of the total propositi, 378 propositi were matched with 378 control propositi for sex, age group, and ethnic community (European or Afro-Asian origin). Of 738 sibs of rheumatic propositi, 19.6% had RF or RHD and of 586 sibs of controls, 3.1% had RF or RHD (P<0.001).

In the matched families 2,985 first-degree relations of the propositi were examined: 142 had RF and 141 had RHD, a total of 9.5%. In the members of the families of the rheumatic propositi 232 rheumatics were found in 1,486 first-degree relations (15.6%), while in the control families 51 rheumatics were found among 1,499 (3.4%).

Comparisons and analyses were made of expected and observed numbers according to sibship size using the method of truncated analyses (Lenz-Hogben method). This analysis supported the hypothesis of a simple mendelian recessive inheritance. Unbiased estimates of P, the population frequency of affected individuals, were consistent with the value P = 0.25, expected for a mendelian recessive character. The rheumatic fever clustering in families in this study was compatible with a simple recessive mendelian inheritance.

A detailed description is given of the study performed in a pair of monozygotic Negro twins both suffering from hemophilia B; the bibliography is also reviewed about the occurrence of hemophilia in twins. The zygosity determination was performed utilizing anthropometric measurements, observation data, finger and palmar prints, seven systems of blood groups and five other genetic systems. The twins present a great similarity in the hemorrhagic symptoms, coagulation tests and Christmas factor level, but morphologic and physical differences due to the disease. These differences are explained by the diversity in the medical-hospital care which both received.

1. Vinblastine (VLB) and vincristine (VCR) are both naturally occurring alkaloids derived from the flowering periwinkle plant, Vinca rosea, Linn.

2. Both drugs have large molecules and are very similar in chemical structure. They differ only in that VLB has a methyl group (-CH3) while VCR has a formyl group (-CHO) attached to one of the nitrogen atoms in the molecule.

3. In spite of this chemical similarity, VLB and VCR differ greatly in the types of malignancy against which they are effective, their toxicities, and their potencies.

4. With these differences in mind, it appeared logical to produce more alkaloids of the series by modifying one of the side chains of VLB.

5. Vinglycinate sulfate (VGL), the first of these semisynthetic VLB derivatives to undergo clinical trial, has proved useful in the treatment of some patients with malignant disease. There was no cross-resistance between VGL and its parent substance, VLB, or with VCR.

Sexual variation in fingerprint types and pattern size, as measured by total ridge counts, has been examined in a sample of 84 Australian aborigines and compared with other populations. As it generally happens in a population, total ridge counts have been found to be higher in males than females on account of (1) the males' higher frequency of whorls and lower frequency of loops, and (2) the males' larger whorl counts. The higher incidence of arches in females than males has also been found to play a role.

Objective: data on the prognosis and management of multifetal pregnancies are of vital importance, particularly when the option of selective termination is considered. The present study details the obstetric management, neonatal outcome, and follow-up data of 65 quadruplet pregnancies in France.

Methods: to conduct the study, a questionnaire was sent to families registered with the National Association Helping Parents of Multiple Births (Association National d'Entraide des Parents de Naissance Multiples, A.N.E.P.N.M.).

Results: of 116 questionnaires sent to families of quadruplets born between 1972 and 1988, 65 were received. Of these pregnancies, 58 were obtained with ovulation induction agents, 2 with IVF (in vitro fertilization) and GIFT (gamete intrafallopian transfer) and 5 were spontaneous. Diagnosis was made prior to 13 weeks gestation in 87.2% of cases. Most mothers were hospitalized prior to delivery – mean duration of 47 days. The mean gestational age at delivery was 31.2 ± 3 weeks with a prematurity rate of 97%. Cesarean sections were performed in 51 cases and vaginal deliveries in 14. Neonatal and perinatal mortality rates were 68 and 104 per 1000, respectively. Birthweights of quadruplets ranged from 760 to 2455g with a mean of 1615 g.

Conclusion: management of quadruplet pregnancies in France consists of early diagnosis, echographical and clinical monitoring, early reduction of maternal activity and cesarean deliveries. Our management of such pregnancies is of high quality as reflected by our obstetrical results. Lack of adequate management, as perceived by families of quadruplets, exists at two levels: a psychological (lack of psychological support) and a financial (lack of specific help).

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 show twin study to allow the determination of gene frequency and penetrance in the general population, by means of the analysis of distribution of phenotypic combinations in the twin pairs.