A description is made of a Brazilian family of white ancestry in which five individuals presented the fibrous dysplasia of the jaws known as cherubism. The information obtained involves seven generations in a total of 75 individuals. 23 of these were examined by the authors and a report about a deceased person was confirmed by photograph. The affection in this family is probably conditioned by an autosomal dominant gene with variable expressivity.

Our data show that oxytocic perfusion should be liberally given during twin pregnancy labor, since its use is correlated with lower fetal mortality, especially of the second premature twin. This therapy might act, namely, by reducing the number of second-twin abnormal presentations. In our series, the higher mortality rate associated with lengthening of time interval between both births could be attributed to second-twin abnormal presentations. However, mortality rate versus time interval in spontaneous twin deliveries warrants obstetrical management providing second-twin birth within 15 minutes.

The authors have examined 30 children from triplet pregnancies aged 18 months to 16.5 years. The group included 20 girls and 10 boys. Triplet pregnancy was found to be, in the average, the fourth consecutive pregnancy in mothers. Physical and mental development was assessed. It was found that 60% of children showed a physical development below the appropriate norm for their age. In 83% of the children under examination mental age ranged below chronological age.

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.

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).

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).

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 incidence of pterygium was studied in an isolated highly inbred fisher population. A clinical and hematological examination was performed and the blood chemistry was studied. Genealogical tables (pedigrees) were prepared for all probands and the degree of consanguinity in their parents stated. Of the total of 479 subjects studied by random sampling, 19 (4 per cent) had pterygium with a relatively high manifestation age. No linkage was detected between the genes for the blood group systems, serum groups etc. and the gene for pterygium. Increased capillary fragility was established in 10 probands. Capillary permeability was studied in 2 probands by the concentration in the anterior chamber of intravenously administrated fluorescein, and the test was found to be weakly pathological in one of them. The serum cholesterol level was elevated in 5 of the patients studied. Ophthalmological examination indicated the accumulation of degenerative eye diseases. Pingueculum showed a more pronounced development in 10 of the 17 subjects examined than in the rest of the population. The possibility of recessive transmission of the hereditary predisposition is discussed with reference to the high frequency of inbreeding and the accumulation of pterygium within the isolated population. According to the special frequency-raising peristasis conditions in an outer archipelago community and to the mendelian segregation rate, a not sex-linked, simple dominant gene, with low penetrance and no selective disadvantage for the pterygium seems to be the most plausible explanation. Because of the late manifestation age, pterygium was observed only in 2 generations. The expressiveness of the gene was unsteady and asymmetry of pterygium in the eyes of the probands is not uncommon.

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.

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.

Nelle ricerche sulla gemellazione la madre dei gemelli è la candidata, ma il carattere ereditario si manifesta nella generazione successiva.

Partendo da considerazioni probabilmente diverse, molto studio è stato dedicato direttamente alla candidata, ai suoi caratteri fisici e fisiologici. La generazione successiva è stata invece alquanto trascurata, sicché, quando abbiamo voluto considerare l'andamento del peso alla nascita dei fratelli di gemelli, non ci è stato possibile rin-tracciare precedenti bibliografici.

Il peso alia nascita è sotto l'influenza di innumerevoli fattori ed ovviamente non è un carattere ereditario. Ma, se la gemellazione è provocata da un sistema ormonico controllato dal genotipo, è probabile che questo sistema agisca anche sul peso alla nascita dei fratelli di gemelli.

The authors report three cases of enlargement in length of the short arm of a G chromosome: in a mother and her trisomy 21 son, and in a child with congenital glaucoma and systemic malformations. They discuss the nature of this odd chromosome. The latter can represent altered chromosomal behavior of anomalous coiling, but it is quite possible that it represents a translocation. The authors observed another case of congenital glaucoma with short arm enlargement in a G chromosome.

Sexual development may be influenced by geographic factors (temperature, humidity, altitude, light), socioeconomic factors (nutrition, public health, family size), and genetic factors (population, familial heredity). Most of them are largely interrelated and difficult to define.

An anamnestic study has been carried out in Israel on Ashkenazi, non-Ashkenazi, and Arab women aged 19 to 60. The age of menarche appeared to be significantly different for Ashkenazi vs. non-Ashkenazi, while no significant difference was found between Arabs and either of the two Jewish groups. Highly significant differences were found for the length of the menstrual cycle, although this finding should be considered with caution. No significant relationship was found between age of menarche and length of the menstrual cycle.

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 suitability and reliability of the Rh-Antigens is being discussed in details in the light of a great number of forensic serologic tests carried out in our Institute in cases of discussed parentage (859 contracting parties, 1251 males involved).

The frequency of paternity exclusions observed does greatly conform with the frequency expected. Differences noted are either very small or are in the range of standard deviation.

Authors emphasize that it is necessary to repeat the test especially if a criminal case is concerned or if an accused father can be excluded.

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.

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.

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.

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.