bluuebunny/crossref_metadata_2025 huggingface dataset:
The Occurrences of Symmetrical and Asymmetrical Papillary Patterns on the Brahmins of Rajasthan
Authors: Kumbnani Harkishin
Published: July 2016

It is to assess the occurrence of symmetrical and asymmetrical combinations of papillary patterns on the Brahmins of Rajasthan (both the sexes) that this paper has been attempted. Symmetrical combinations are those patterns which are of the same type on the corresponding digits of Right and Left hands, while the asymmetrical are those which are of different types on the digits of corresponding Right and Left hands. All the Loops whether Ulnar or Radial are put into one category. The actual frequencies (AF) and chance frequencies (CF) of Various combinations are calculated.

1. The pattern combination W/W preponderate on I, II, & IV digits in both the sexes, while U/U is more often observed on the III and V digits. The pattern combination A/A is more common in males than in females, moreover this combination is more frequently noticed on II and III digits only.

2. Comparing the values of AF/CF ratio for the symmetrical combination of Whorls-Whorls, Loops-Loops and Arches-Arches in Brahmin series it is observed that the combination Loops-Loops exhibit the lowest value, while the Arches-Arches show the highest, indicating thereby that the tendency to symmetrical patterns is highest in Arches, lower in Whorls and lowest in Loops.

3. The least AF-CF value in the various asymmetrical combination shows the tendency to the repulsion of the combination. It is observed that this tendency is highest in Whorl-Arch and lowest in Loop-Arch combination.

4. A strong tendendy to repulsion on the part of asymmetrical patterns is observed and which consequently increases the tendency more towards the symmetrical patterns.

5. The value of AF/CF ratio is inversely proportionate to the value of chance frequency (CF) or in other words the decrease of CF value increases the AF/CF ratio

6. It is possible to calculate the chance frequencies (CF) when the percentile frequencies of various patterns are given.
Rara osservazione di un nanismo diencefalo ipofisario in una gemella monozigotica
Authors: Cotellessa Giuseppe
Published: July 2016

The Author give a detailed description of a rare observation of hypophyseal dwarfism in a monozygous twin.

The patient showed the classic symptoms of dwarfism and infantilism which have produced a discordance in some characters; important and useful are the results obtained from clinical and laboratory data. They have confirmed the diagnosis of zygotism.
Le dessin, mode d'investigation de la personnalité chez les jumeaux identiques
Authors: Tisserand-Perrier M. , Blaizot Anne Marie
Published: July 2016

Drawing is an excellent means of investigating the personality of identical twins. It gives an overt expression of the difficulty of arriving at the consciouness of the self, so frequently found with these persons. Some of this article's drawings illustrate this fact and show the persistence of duality and confusion.

The strength of the tie to the other twin, the wish for indépendance from him, the dominance of one subject in the pair are also made manifest.

Furthermore, the existence of some affective reactions toward the family and the frequent opposition between the types of behavior, found in the two members of a same pair toward the auter world, are shown.
Le mécanisme héréditaire de la maladie de Dupuytren
Authors: Pfändler U.
Published: July 2016

Dupuytren's disease recurs more frequently than generally assumed. 24 typical family trees derived from the literature are analyzed here.

The main conclusions that can be derived are the following:

1) Monogenic heredity is confirmed.

2) The sex ratio in the affected families is 61,2 m: 38,8 f.

3) The sex ratio in unaffected families is 38 m: 43 f.

4) The expressivity of the disease is variable. Penetrance, which is incomplete, varies according to the sex. In our selected material, the penetrance rate is 93,6% in the males and 42,9% in the females.

5) Males transmit the gene in 68% of the cases; females in 32%.

6) Incomplete sex linkage can be excluded.

7) A comparison is made between the really observed values and the theoretical rates for normal and affected men and women for the chance of an auto-somatic dominance. These observations make possible the conclusion that the number of affected females is too low as compared with unaffected females and affected males.

8) A new theory is suggested concerning the mechanism of heredity based on the different statistical values. The responsible factor would bedeadlyfor 60% of the XX affected zygotes. But 60% of the affected X gametes produced by the mother, being identified by an essential incompatibility for the unaffected X spermatozoid, would be electively fecundated by a Y gamate. This machanism would explain the excess of affected males, the small proportion of affected females and the sex-ratio of 61,2: 38,8.

The concordance between the observed values and the theoretically expected values of such a kind seem to convalidate our new theory.
European Congress of Twins
Authors: Bruins J. W.
Published: July 2016

On the 21st and 22nd of May 1955 a congress of twins took place in Oirschot (Nederland). The initiative for this remarkable assembly came from the secretary of the local Sportsclub Orion, Mr. Louwers, who himself is a half of a twin. In order to add glamour to the anniversary of this club it was thought to achieve this by inviting twins. This gathering was a great success for over 300 twins from different countries took possession for several days of this quiet town in Brabant, The original intention was to offer a programme of social activities including excursions, musical evenings, competitions and dancing. The international Press had given a great deal of publicity to this Congress whiel from a cultural point of view was successful.

The total number of twins which took part was 327 (654 persons). The countries which were represented were as follows:

Holland, 229, Germany 61, Belgium 21, Saarland 4, Austria 4, France 2, Sweden 2, Switzerland 2, Finland 1, Italy 1. The average age of the participants was 29,1 years, the oldest being 82 and the youngest 15. Total number were 167 girls and 155 boys. The number of mixed twins was small (38) so that there as a rather strong tendency towards twins of the same sex. Similarly there was also a tendency for identical twins but this was not certain because not all the twins of the same sex could be actually identified by anthropological methods. After examination it was almost certain that 80 were one-egg twins but most probably there were more. This has strenghtened our opinion that also in the public eye only those twins are considered genuine which are physically and mentally the same. Since 375 twins had unselectively taken part, in the congress, it would have been expected that at least a 100 would have been mixed twins, in fact there were only 38.
Über 27 Sippen mit infantiler amaurotischer Idiotie (Tay-Sachs)
Authors: Hanhart E.
Published: July 2016

This paper is based on 45 cases in 27 families, all of which have been studied in Children Hospitals. In Switzerland almost all cases ofinfantile amaurotic idiocy (Tay-Sachs)have probably been collected, so that the stated 13 primary and 14 secondary cases may allow an estimation of the frequency of this character, which seems to oscillate temporarily. In the last 10 years no new cases have been observed.

All 24 autochthonus Swiss cases are from non-Jewish, mostly rural origin, in which Eastern Jews are not to be supposed as ascendants.

Our in all 27 families with TS make Slome's statistic of Jewish and non-Jewish cases in literature much more significant; the incidence of parental consanguinity is, as a matter of fact, nearly twice as high in families with non-Jewish origin.

There is no evidence of a milder and longer course of TS in non-Jewish families.

The mode of inheritance is, according to Slome,monohybrid autosomal recessive, though in remarkably many sibships there is an accumulation of cases. The reduction method, however, gives a percentage of 28,3 ± 6,2, coming quite near to the expectation of the Mendelian quarter.

The penetrance of the character is total, the expressivity generally very equal, with only a few deviations from the well—known clinical picture of TS.

The interfamiliar and intrafamiliar variability therefore is small. In not even one of the families studied have there been found other forms of lipoidosis, principally no cases ofsplenohepatomegalia Niemann-Pick. All available respective cases in Switzerland have been collected by the present author and will soon be published in these Acta. In none of these families with M.Niemann-Pickhave cases of M. Tay-Sachs been seen. This fact is liable to prove that these clinically and anatomically very similar conditions derive from independent i. e. different mutations.

Modifying genes may account for the incidence of sibships in which all or almost all children died from M. TS.

Environmental influences do not seem to favour its manifestations.

If in the newer literature from the U.S.A. the Jewish cases of M. TS are still prevalent and if, as we heard, the concomitant manifestations occur fairly often in Israel, the origin may be sought in one at least 200 years old respective mutation in the Jewish population of a relatively restricted White-Russian era.
Heberden's nodes: concordant osteoarthritis of the fingers in identical twins
Authors: Stecher Robert M.
Published: July 2016

Heberden's nodes or osteoarthritis of the finger joints are described in two identical twins. The appearance of the hands and the bone changes in individual joints as shown by radiographs are remarkably alike. That the twins are identical is indicated by agreement of eye color, hair on the fingers, tasting of phenylthiocarbamide and of 8 blood groups. Evidence of a tendency to mirror imaging in the distribution of the disease among the fingers is seen.

Osteoarthritis of the fingers occurs in these cases in the apparent absence of manifestations of osteoarthritis in other joints. Heberden's nodes is an hereditary disease but this seems to be the first description published of its occurrence in twins.
A Case of Mongolism in DZ Female Twins Studied at 10 and then at 43 Years of Age
Authors: Greulich William Walter , Breg W. Roy , Culotta Charles S. , Plato Chris C. , Yannet Herman
Published: July 2016

A pair of female mongoloid twins was studied when they were ten years old and, again, some thirty years later. A careful comparison was made of the similarities and differences between them in features or traits which have proved to be useful in determining the zygosity of like-sexed twins.

Though some of these characters can be, and frequently are, considerably modified in the presence of mongolism and so lose part of their value for that purpose, the differences noted in these twins, both as children and as middle-aged adults, are thought to outweigh their similarities and so warrant the conclusion that they are, indeed, dizygotic.
Studies on the Geographical Distribution of Australia Antigen
Authors: Seth Swadesh
Published: July 2016

The world distribution of the Australia antigen, the agent responsible for hepatitis in man, is reviewed on the basis of the available literature, with the addition of a personal research on a sample of German donors.
Usher's and Hallgren's Syndromes
Authors: Merin S. , Abraham F. A. , Auerbach E.
Published: July 2016

A study has been made of 35 patients belonging to 20 families, all diagnosed as Usher's syndrome (retinitis pigmentosa and deafness). The results indicate that there are four clinical types, which have been called Types I to IV. Genetically, they represent at least two, and possibly three or four, separate entities.
Age of Onset and Evolution of Fabry's Disease
Authors: Franceschetti Albert Th.
Published: July 2016

Personal examination of 39 cases of Fabry's disease, with special respect to a chronogenetical analysis, revealed interesting temporal features both in the age of onset and the age of death.
Genetic Aspects of Presbyacusis
Authors: Gedda L. , Bruno G.
Published: July 2016

The impact of genetic factors of the decay of the acustic function has been studied. Various tonal frequencies have been tested on a sample of 16 MZ and 16 DZ twin pairs, belonging to both sexes and to different age groups, i.e., fourth, fifth, and sixth decade.

A relatively high heredity coefficient is found with respect to the fourth and fifth decade.
A Case of Beauvieux's Syndrome and its Evolution
Authors: Bardelli A. M. , Fois A. , Frezzotti R.
Published: July 2016

The Authors report the evolution of a case of congenital pigmentation of the optic discs (Beauvieux's syndrome-like).

There was no evidence or history of hereditary or metabolic diseases, but it is important to point out the unusual age of the mother, who was 14 years old.
The Importance of Retinal Electrophysiology in Ceroid Lipofuscinosis
Authors: Stanescu B. , Spiritus M. , Michiels J.
Published: July 2016

The two types of amaurotic idiocy, gangliosidosis and ceroid lipofuscinosis, are characterized by biochemical, ultrastructural, and electrophysiological differences. They are in fact two different clinical entities, both resulting from a congenital metabolic trouble.

Six clinical cases of ceroid lipofuscinosis are presented and the diagnostic importance of the ERG is stressed.
Unusual but Frequent Etiology of an Acute Perinatal Distress in Twin Pregnancies
Authors: Dargassies S. Saint-Anne
Published: July 2016

This paper aims at drawing the attention of obstetricians and pediatricians to a peculiar syndrome: a neonatal emergency without any preliminary signs of fetal distress. This emergency can be predicted before birth. The uterine content film obtained, when a twin pregnancy or an abnormal presentation is suspected, shows an extreme and permanent fetal malposition as early as the 6th month of gestation: the head is forcibly overextended, embedded in the spinal abnormal concavity. Its severity and duration entail a cervical elongation and a temporary atonia of inspiratory muscles. Respiratory autonomy is impossible at birth. A prolonged artificial ventilation should be organised and used immediately at birth to prevent death or any risk of transient cerebral anoxia. The acute neonatal neurological syndrome is only due to a purely peripheral motor and transitory impairment, and it will have no consequences.
The Efficiency of Some Placental Tests in the Course of Multiple Pregnancies
Authors: Rudzinski J. , Metler S. , Mierzejewski W. , Metler St.
Published: July 2016

Total estrogens (E/day), pregnanediol (P/day) in diurnal urine, and thermostable alkaline phosphatase (APt) in blood serum were investigated. Simultaneously, amnioscope examinations were carried out during pregnancy and the beginning of labour. A retrospective assessment of placental test values with respect to the state of newborns was also made. The usefulness of these tests in the diagnosis of a fetus at risk in multiple pregnancies appears to be limited.
Longitudinal Dental Examination in Twins
Authors: Kovacs Z. , Kozma T. , Pasierbinska M.
Published: July 2016

In 1970 Hungary has joined in the WHO twin research program, and the medical file of twins has thus become compulsory.

A total of 269 twin pairs could thus be examined at the age of 6 months, 157 at the age of 12 months, and 44 at the age of 24 months. They all came from the same population and included 54 pairs diagnosed as MZ and 109 diagnosed as DZ. Extensive dental examination is planned to take place yearly till the age of 14 years.
Development of Premature Twins with Dissimilar Birth Weight. II. Mental Development
Authors: Lis St. , Janus-Kukulska A.
Published: July 2016

In follow-up psychological examinations of two groups of premature same-sex twins in preschool and school age (18 pairs with dissimilar and 15 pairs with similar birth weight), intelligence, visual and auditory perception, and drive, were evaluated.

The twins with lower birth weight usually attained lower IQs than their cotwins with higher birth weight, and nearly as a rule had poorer IQs of Verbal and Performance Scales. They also more often were hyperactive and had concentration difficulties. There were no differences in visual and auditory perception.
Multiple Births in Southern Moravia
Authors: Zahalkova M.
Published: July 2016

The frequency of living twins born in Southern Moravia in the period 1960-1970 was studied and found to be 0.67%. No differences in twinning rate due to the years, seasons, districts or towns with 10,000 and more inhabitants in comparison with other localities, were found. An interesting hitherto undescribed phenomenon of twin-birth clustering in space and time was observed.
L'Alimentazione dei Gemelli nel Primo Semestre di Vita
Authors: Gatti Irene
Published: July 2016

Si è voluto studiare l'alimentazione dei gemelli nel primo semestre di vita e le cause che determinano la scelta di uno piuttosto che di un altro tipo di alimentazione. A tale scopo, si sono prese in considerazione 500 coppie di gemelli che frequentano l'ambulatorio pediatrico dell'Istituto Mendel di Roma.

Dall'esame dei dati (tabella), risulta evidente come vi sia una netta maggioranza (97.8%) di coppie con allattamento concordante qualitativamente nei due gemelli.

La causa prima dell'allattamento discordante materno-artifìciale è la scarsità della secrezione lattea nella madre che impedisce l'alimentazione di ambedue i figli, unita a qualche particolare condizione di uno dei due (minor peso, presenza di fattori morbosi intercorrenti, minor tolleranza verso l'allattamento artificiale, etc.) che fa optare per un allattamento discordante, piuttosto che per uno misto in ambedue.

A volte, anche se la madre ha una quantità di latte sufficiente, ed uno dei due bambini deve essere temporaneamente allontanato da lei per una malattia intercorrente o per ricovero in reparti speciali per immaturità, si incontra notevole difficoltà alla sua riassuefazione alla suzione al seno.

Dalla tabella risulta come, su 500 casi, solo il 18% ha un allattamento materno concordante e completo fino all'inizio del divezzamento (intorno al V-VI mese). Il 19.2% è allevato con allattamento misto materno-artificiale con poppate alterne e complementari; il 38.8% con allattamento artificiale completo fin dai primi giorni; il 10.2% con allattamento materno nei primi mesi, poi misto; il 14.2% materno nei primi mesi, poi artificiale; il 2.4% misto nei primi mesi, poi completamente artificiale.
Comparison of Weights of Twin Fetuses and of their Incisors
Authors: Stack M. V.
Published: July 2016

Weights of developing incisors in 10 pairs of twin fetuses have previously been related to ages in order to compare dental growth status (Stack, 1963). Ages (T0) at which weights (W) of mineralised portions of teeth of the temporary dentition become significant have been computed (Stack, 1968), using a Fortran program giving maximum likelihood estimates of the required parameters, based on the statistical model of Angleton and Pettus (1966).

Availability of the additional parameter T0 allows a reexamination of the previous data, now fortified by observations on incisors from five further pairs of twin fetuses. Estimates of ages were made from the relationship (T—T0) = k·W½, where values for upper and lower central incisors were 2.0 and 2.8 for k, 19.5 and 18.5 for T0, respectively. Less reliable estimates were obtained from the lateral incisors. These values were computed from observations on 40 dentitions from normal singleton fetuses. Ages were also estimated from tabulated body weights (Documenta Geigy).
Diabete e Gemellogenesi
Authors: Gedda L. , Segni G. , Andreani D. , Casa D. , Marco G. Di
Published: July 2016

Il problema dell'ereditarietà della gemellazione non può dirsi ancora convenientemente risolto (Gedda e Brenci, 1964), benché si possano formulare alcuni postulati:

1) La gemellazione è un fenomeno familiare di tipo ereditario;

2) L'influenza dell'eredità si manifesta in modo più sensibile nello stipite materno che in quello paterno;

3) L'espressione zigotica del fenomeno gemellare (cioè, la variabilità qualitativa e quantitativa della gemellazione) è da ricondurre alla variabilità qualitativa della medesima unità ereditaria;

4) La gemellazione è un carattere che riguarda la madre, ma che si evidenzia solo nella generazione filiale; probabilmente si tratta di un carattere recessivo limitato al sesso.

Le gonadotropine umane usate per la terapia della sterilità femminile hanno prodotto numerose gravidanze multiple non MZ, confermando l'ipotesi che la tendenza a generare gemelli DZ corrisponda a deficit o eccesso di un sistema ormonico controllato dal genotipo (Gedda, 1965). Sarebbe l'eccesso primario di FSH (o secondario, in rapporto a difetto di LH o di progesterone) a provocare la maturazione di più oociti e forse, qualora questa situazione si verifichi a fecondazione avvenuta, a trasformare lo zigote in un protozigote. Anche la gemellazione MZ sarebbe pertanto provocata dal medesimo sistema ormonico, controllato dal genotipo, precedentemente ipotizzato come fattore causale della gemellazione DZ.
Situazione dei Gemelli nell'Utero Materno e Presentazione all'Atto del Parto
Authors: Ikonomov G.
Published: July 2016

I feti gemellari possono avere, nell'utero, situazioni diverse, regolate, come nella comune gravidanza, dalla legge dell'adattamento. Le situazioni principali sono la longitudinale (a estremo cefalico o podalico) e la trasversale. Sono possibili le seguenti combinazioni: (i) ambedue i feti in presentazione occipitale: 31-47%; (2) ambedue in presentazione podalica: 8-12%; (3) uno in presentazione occipitale e l'altro in presentazione podalica: 34-38%; (4) ambedue in situazione trasversale: 0.5-0.1%. Possono aversi anche altre combinazioni, quali: la combinazione « T », quando i feti sono uno sopra l'altro — quello inferiore in situazione longitudinale e quello superiore in situazione trasversale; la combinazione del « T » rovesciato; oppure la combinazione con ambedue i feti in situazione trasversale. Nei casi in cui i feti sono uno davanti all'altro, si nota la combinazione a croce, e cioè, un feto in situazione longitudinale e il feto posteriore in situazione trasversale. Tali combinazioni, in cui ha importanza se vi siano membrane comuni o separate, specialmente per quanto riguarda quelle amniotiche, possono provocare complicazioni all'atto del parto.
Multivariate Analysis in Twins
Authors: Defrise-Gussenhoven E.
Published: July 2016

We present the results of a noncentral χ2 test applied to 63 like-sexed twin pairs.

We have separated the pairs into two groups: 30 serologically identical and 33 serologically nonidentical pairs for nine sera of the blood groups ABO, MN, and Rh.

The probabilities of monozygosity of the serologically identical pairs, calculated by the method of Maynard-Smith and Penrose, range from 0.83 to 0.92 — rather small values. With the help of Belgian frequencies of DZ and MZ twins, we could prove that there are about 50% chances of having less than two DZ pairs amongst the 30 serologically identicals.

Consequently, our first group with 30 pairs is mostly MZ (less than 7 DZ pairs in 96% of the cases); while our second group, with 33 pairs, is completely DZ.

We did not try to extract out of the 30 serologically identicals, such pairs that might “seem” DZ. For instance, we have kept in our first group two twins — one with blue and one with brown eyes — because the genetics of eye colour is not yet enough well-known to be safely used in twin-diagnosis; and also in memory of Madame de Sévigné, who had one brown and one blue eye. Imperfect as the composition of our sample is, we have avoided at least one mistake: adding, to surely DZ pairs, twins who are “seemingly” DZ, but not proven to be so.
Heredity and Environment in Finger and Palm Prints Progress report
Authors: Parisi P. , Alciati G. , Bacco M. Di
Published: July 2016

Recent years have witnessed a growing interest in dermatoglyphics: an increasing number of associations between dermatoglyphic alterations and different diseases (especially chromosomal aberrations) are actually being reported, which is of particular concern to human and medical geneticists, as well as to clinicians and pediatricians.

Having been shown to undergo practically complete genetic conditioning, fingerprints are also being applied, by different authors, to the diagnosis of zygosity in twins.

On the other hand, although, on account of available data, a large impact of heredity may be assumed in their determination, dermatoglyphics as a whole still fail to find a clear genetic definition.

Furthermore, with respect to clinical aspects and applications, a clear quantitative definition of dermatoglyphic alterations, and therefore of dermatoglyphic normality and its variability, is still needed.

Last, but not least, a wider and generalized application of dermatoglyphics to the diagnosis of zygosity in twins would require a clear, morphological and genetic, quantitative definition of each trait, as well as the introduction of simple and standardized statistical methods for calculating the probabilities of monozygosity and dizygosity.
La Signification Statistique de la Concordance chez les Jumeaux MZ et DZ
Authors: Pfändler U.
Published: July 2016

Les résultats statistiques sont exacts dans la mesure où nous disposons de séries gémellaires MZ et DZ non sélectionnées. Il est nécessaire que cette condition soit réalisée, si l'on veut déterminer la probabilité de manifestation d'une tare.

D'autre part, pour les maladies dont l'âge d'apparition est très variable (diabète sucré, schizophrénie, folie circulaire), un certain nombre de jumeaux sont considérés comme normaux, alors qu'ils n'ont peut-être pas encore atteint l'âge de manifestation. Pour ces cas, nous devons utiliser une méthode correctrice, tenant compte de l'âge. Certaines séries gémellaires de nos statistiques n'ont pas subi cette correction, et de ce fait les valeurs peuvent être plus ou moins faussées.

Il est en outre souvent difficile de différencier l'hérédité polygénique de l'hérédité monofactorielle à pénétrance très incomplète du gène responsable. Penrose (1953) a démontré qu'il est illusoire de vouloir, sur la base des données familiales, trancher en faveur de l'un ou l'autre de ces modes d'hérédité, lorsque la fréquence du trait ou de l'anomalie chez les parents et leurs enfants est moins de dix fois supérieure à la fréquence observée dans l'ensemble de la population.
Étude Cytogénétique sur des Jumelles dont le Père souffre d'une Maladie Ulcéreuse et d'une Hypertension Artérielle
Authors: Roşca G. , Roşca S. , Ilea V. , Ilea I.
Published: July 2016

Nous avons eu l'occasion d'examiner une paire de jumelles MZ, apparemment saines, provenant d'un père chez lequel s'étaient associées deux affections: maladie ulcéreuse et hypertension artérielle. Dans ce même symposium, nous présentons en détail les résultats des explorations cliniques concernant la réactivité vasculaire et de sécrétion gastrique chez ces deux jumelles, remarquant que, pendant que l'une des jumelles (K.G.) hérite la réactivité de type hypertensif, l'autre hérite une réactivité de type ulcéreux (K.M.).

Cette constatation nous a déterminé à effectuer une analyse caryologique, afin de dépister les éventuelles modifications chromosomiales, ainsi que leur mode de représentation chez les trois sujets: le père et les deux sœurs jumelles.

Les examens caryologiques furent effectués sur des cellules lymphocytaires, prélevées du sang périphérique et cultivées sur Difco 199, selon la méthode de Moorhead. Les plaques métaphasiques, colorées au Giemsa, furent examinées au microscope à immersion, ainsi que sur des microphotographies. Pour chaque cas à part, l'on a effectué des idéogrammes de 18-25 plaques métaphasiques qui furent ensuite analysées et comparées l'une à l'autre.

L'analyse quantitative des caryogrammes n'a révélé aucune aberration de nombre chez les trois sujets examinés.
Genetic Criteria for the Classification of Malformations — A twin study
Authors: Gedda L. , Del Porto G. , Lun M. T.
Published: July 2016

The authors have investigated the genetic conditioning of malformative phenomena in the series of twin pairs identified by the Italian Institute for Vital Statistics in the five-year period 1961-1965 (approximately, 55000 twin pairs).

For the present study, an original theoretical model has been chosen, that makes the classical twin test of comparison between twin series different as to zygosity be applied to twin series different as to sex composition.

The resulting analysis enables the authors to formulate a hierarchical classification of many of the malformations listed by the Italian Institute for Vital Statistics, according to their degree of genetic conditioning.
La Pagisation Accident du Développement Gémellaire
Authors: Neagu Natalia , Neagu Mihai , Neagu Stefan
Published: July 2016

La rencontre et la fusion plus ou moins étendue des aires embryonnaires jumelles conduit à la pagisation; les possibilités de fusion de deux embryons jumeaux, ou bien de duplication partielle d'une aire embryonnaire, conduisent au même résultat: celui de malformé non-viable et inutile, mais instructif en tant qu'expériment naturel d'embryogénèse.

Nous présentons un céphalothoracoomphalopagus, dont l'étude nous a intéressé, tant par l'inventaire des malformations qui ont accompagné la pagisation, que par la symétrie somatique parfaite présenté par ce genre de monstre à double origine égale (isodyploterata).

Une seule tête, avec deux proéminences occipitales et deux visages opposés; un seul cou; un seul tronc avec deux colonnes vertébrales et deux région thoraciques antérieures; un seul abdomen recouvert d'une mince paroi, qui, loin d'assurer une bonne contenance, permet aux viscères de descendre comme dans une large poche célosomique; un seul cordon ombilical. Quatre membres thoraciques et quatre membres pelviens symétriques normaux (octomel); rachischisis lombosacrale avec méningocèle chez l'un des fœtus; imperforation anale du même côté (Fig. 1).
Modifications de la Réactivité Vasculaire et de la Réactivité de Sécrétion Gastrique chez deux Jumelles MZ
Authors: Ilea V. , Hărăguş St. , Ilea I. , Roşca G. , Roşca S.
Published: July 2016

L'association entre hypertension artérielle essentielle et ulcère peptique a fait l'objet de nombreuses observations et études statistiques. La littérature indique aussi le pourcentage de cas où ces deux maladies sont associées. On peut notamment constater que la fréquence de cette association est — pour les sujets jeunes — moins forte qu'on ne le croyait jusqu'à présent (1.5%), tout en demeurant intéressante en raison du conditionnement neurogène des deux maladies.

Partant des données de la littérature, nous allons exposer les résultats d'une étude sur deux jumelles, qui permet d'illustrer l'association existant entre ces deux maladies de caractère génétique.

La justification de notre étude résulte des faits suivants:

1) La concordance de hypertension artérielle essentielle et ulcère peptique chez un couple de jumeaux MZ a été rarement, si non jamais, signalée;

2) Nous avons conduit une étude cherchant à approfondir le problème de cette association par un sondage des différents types de réactivité vasculaire et gastrique chez des jumeaux apparemment sains, mais provenant d'un père atteint des deux affections à la fois.

Notre étude a porté sur deux jumelles apparemment saines, âgées de 19 ans (K.M. et K.G.).
La Psiconevrosi Ossessiva nei Gemelli
Authors: Braconi L.
Published: July 2016

Numerosi autori (Lo, 1967; Sakai, 1967; Balestra e Lanzara, 1968; Rosenberg, 1967, 1968, 1969; Goodwin et al, 1969) hanno di recente ripreso il tema dei rapporti tra psiconevrosi ossessiva e psicosi schizofrenica, giungendo a conclusioni pres-soché concordi sulla relazione che intercorre tra le due forme mentali, anche se discordi sulle percentuali (Lo 2.3%, Müller 12%).

Dal punto di vista genetistico, viene riconosciuto alla psiconevrosi ossessiva — sin dal Janet che la descrisse nel 1903 — un terreno ereditario, non sempre specifico ma polimorfo, condizionante l'instaurarsi e l'evolversi della sintomatologia coatta. Lowenfeld (1904), Luxenburger (1930), Lewis (1936), Brown (1942), Rüdin (1953), Balslev-Olesen e Jörgensen (1959), Bertuccelli e Schiller (1964), Rosenberg (1967), Lo (1967), Sakai (1967) ed altri hanno tutti confermato l'eredità della psicopatologia, seppure con differenti valutazioni e deduzioni.

Lo studio dei gemelli — benché povero di casistiche numerose, data la bassa frequenza popolazionistica della sindrome (5: 1 000 000, secondo Woodruff e Pitts, 1964) — ha portato un ulteriore contributo agli studi accennati (Tarozzi, 1938; Rüdin, 1953; Parker 1964; Woodruff, 1964; Inouye, 1965).
Evaluation of the Granulopoiesis during Antiblastic Treatment
Authors: Fieschi A. , Sacchetti C.
Published: July 2016

Selected subjects have been treated with cyclophosphamide and nitrogen mustard. The granulocytopenia has been followed by repeatedin vivolabeling with DFP32and the endotoxin test for evaluating the availability of the granulocyte reserve. The effect of steroid treatment on the recovery of the granulopoiesis has been studied with autotransfusions ofin vitroDFP32labeled granulocytes in the same subject and performed before, during and after the treatment was discontinued.

The following conclusions have been reached:

1. The efficiency of the granulopoiesis is based upon the availability of the bone marrow granulocyte reserve.

2. The bone marrow granulocyte mobilization with endotoxin and thein vivogranulocyte labeling with DFP32give an evaluable information about the bone marrow granulocyte reserve.

3. The granulocytopenia due to antiblastic therapy corresponds to a depletion of the bone marrow granulocyte reserve.

4. The recovery of a “normal granulocyte count” preceeds the rebuilt of a “normal availability” of the bone marrow granulocyte reserve.

5. The recovery of the blood granulocyte count after prednison is not associated with any favourable change of the granulopoiesis.
Synthesis and Screening of Substances acting by Alkylation and Metabolic Inhibition
Authors: Barbieri A. De
Published: July 2016

Molecular carriers with alkylating sites and sites endowed with antimetabolic activity were synthesized.

Phenylalanine and hydroxyphenylalanine having a dichlorodiethylamino group in the benzene ring were chosen as alkylating agents because of their capability to form peptides with natural and antagonist aminoacids.

The chemotherapeutic screening was carried out according to CCNSG rules with the only variant that the determination of the weight of the tumors of the treated mice was carried out on the day subsequent to that indicated by the CCNSC, i.e. at the 9th day after tumor implantation. In this same day the spleen weight was determined also. On the previous day, the white cell count was carried out and in way it was allowed an evaluation of the hemotoxicity.

The optical isomerism of the compounds plays a fundamental rôle in the chemotherapeutic activity.

Examples of different isomers of the tripeptide phenylalanyl-ethionyl-m-sarco-lysine and of the tetrapeptide arginyl-p-fluorophenyl-alanyl-glycyl-m-sarcolysine, endowed with markedly different chemotherapeutic activities (from o to 90) in relation to the different stereochemical configuration are reported.

Oxidative phosphorylation, ATPase, glycolysis, Nadase, succinic dehydrogenase, cytochrome-oxidase, glutamic dehydrogenase, lactic dehydrogenase amino acid oxidase, proteolysis were studied in biochemical pharmacology investigations.

The active compounds bring the phosphorylation ratio to zero in Sarcoma 180 mitochondria at doses reducing the P/O by 40-50% in normal liver mitochondria.

Interesting observations are pointed out for other enzyme systems, showing the specificity of the activity of some peptides at the biochemical level on tumor enzyme systems in comparison with the same enzyme systems of normal tissues.
Fluorescence Microscope and Electron-Microscope Studies on the Effect of Trenimon on Human Tumour Cells
Authors: Thom R.
Published: July 2016

A report is given on various forms of administration of Trenimon for local treatment of neoplasms of the serous membranes. For supervision and adjustment of the chemotherapeutic effect supravital staining with acridin orange and phase-contrast microscopy of the untreated effusion sediment are especially suitable. This facilitates distinction between newly formed and preformed granules, which is of importance for the diagnosis. Inhibition of dye-induced production of granules is a very sensitive criterium for assessment of cell vitality. The development of regressive changes in the tumour cells caused by chemotherapy is discussed with reference to micrographs of a metastatic pleural sarcomatosis. Electron-microscope studies on the exudate suggest that prior to necrobiosis an increased transfer of the granular nucleolar component into the cytoplasm takes place. This may be caused by a true increase in the transfer of nucleolar RNA towards the cytoplasm or by an inhibition in the late S-phase.
The Stathmokinetic Agents
Authors: Gedda L. , Cardinali G.
Published: July 2016

Stathmokinetic agents are a class of antimitotic agents which possess the ability of arresting cell division at the metaphase stage.

They are also called spindle poisons because they act by inactivating or distructing the mitotic spindle. Some new discovered stathmokinetic compounds, like vinblastine and vincristine, are effective anti-tumour agents. The mechanism of action of spindle poisons is briefly discussed.
New Derivatives of the Vinca Rosea Alkaloids
Authors: Armstrong James G.
Published: July 2016

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.
The Catharanthus Roseus (Vinca Rosea) Alkaloids: A New Glass of Stathmokinetic Agents
Authors: Cardinali G. , Cardinali G. , Centurelli G.
Published: July 2016

Vinblastine (VLB) and vincristine (VCR) are two alkaloids (extracted from the plant Catahranthus roseus) which possess a definite antitumor activity. The antitumor activity. The antimitotic action of these two alkaloids was studied both on normal bone marrow and leukemic cells. Comparative studies showed that they are, like colchicine, spindle poisons. They, however, differ from colchicine and its derivatives in some of their biological activities.

The problem of the relationship between antitumor and antimitotic activity of VLB and VCR is discussed.
Personal experience on the chemiotherapy of leukemias et hematosarcomas
Authors: Mathé G. , Schneider M. , Schwarzenberg L. , Cattan A. , Amiel J. L. , Schlumberger J. R.
Published: July 2016

Many drugs have been recently tested in the treatment of leukaemias and hematosarcomas. Some of them have been found active: Dibromomannitol in chronic myeloid leukemia, Leurocristine in lymphoblastic diseases, Vincaleucoblastine and Methyl-Hydrazine in reticulohistiocytal diseases, and Methyl-Glyoxal-Bis (Guanylhydrazone) associated with 2-Hydroxystilbamidine in acute granulocytic leukaemias. Besides, multiple chemotherapy, coupled with the use of stored bone marrow has already given encouraging results in the treatment of hematosarcomas.
Lo studio della cromatina sessuale a fresco mediante il contrasto di fase
Authors: Torrioli Mario
Published: July 2016

Gli aspetti genetici del globulo rosso rappresentano oggi uno dei campi più fruttiferi in genetica ematologica, sia che essi si guardino dal punto di vista strettamente morfologico, sia da quello della loro costituzione antigene, sia per la qualità dell'emoglobina contenuta etc. Ancora limitato invece è il nostro patrimonio di conoscenze per quel che riguarda i globuli bianchi.

Eppure è un campo ricco di promesse, come il notevole numero di forme strettamente legate alla genetica sta a dimostrare. Ricordiamo ad esempio l'anomalia di Alder, quella di Pelger, l'eosinofilia familiare, la granulopenia familiare, etc. — È quindi uno dei punti fondamentali del nostro programma di lavoro uno studio sistematico degli aspetti genetici nella anatomia, fisiologia e patologia del globulo bianco. Non sto a ricordarvi i punti di notevole interesse già ottenuti e che, essendo pubblicati, vi sono già certamente noti. Vorrei invece prospettarvi alcune considerazioni di interesse prevalentemente teorico che pur interessando tutto il campo della genetica medica risaltano nella loro piena attualità nel campo delle genetica ematologica. Dovrò a questo proposito ricalcare alcuni punti già trattati nella relazione Gedda-Torrioli Riggio, ma l'analogia tra i due argomenti, fin troppo evidente, non mi permette di fare altrimenti.
Origine della thalassemia
Authors: Gatto Ignazio
Published: July 2016

On examining all the hypotheses on thalassemia the one that seems more reliable in the onset in a paleomediterranean race.
Problèmes génétiques concernants une nouvelle anomalie du globule rouge et le favisme
Authors: Sartori Ernesto
Published: July 2016

En Sardaigne le favisme hémolytique est bien fréquent. C'est pourquoi j'ai pu conduire une étude génétique de la maladie suivant les méthodes classiques.

L'analyse d'un ensemble de 116 fréries atteintes, séparées en 3 catégories selon que les parents étaient tous les deux normaux, l'un seulement atteint ou tous les deux atteints, a donné les résultats suivants:

1. Une correspondance satisfaisante, au control par le X2, des rapports observés et prévus, suivant la méthode de Bernstein, entre les enfants atteints et les normaux, dans l'hypothèse d'une transmission héréditaire recessive de la prédisposition à la maladie, cette prédisposition étant identifiée par la maladie même, soufferte au moin une fois.

2. La disparition prèsque totale, après l'age de 30 ans, de la forte prépondérance du sexe masculin sur le féminin, observée chez les enfants atteints.

3. Une prépondérance des mâles bien plus forte parmi les enfants hospitalisés, c'est-à-dire chez les plus graves, que parmi les autres.

4. Une fréquence calculée du gène de 0.133, incompatible avec l'hypothèse d'une liaison absolue du gène au chromosome X, même en considération de la sex-ratio la plus favorable à cette hypothèse, observée chez les enfants hospitalisés (300 m % f).

5. La sex-ratio — déduite de 226 familles — entre les pères et mères atteints de 100 m % f, celle-ci aussi incompatible avec la même hypothèse.

6. Pas de différence significative entre le nombre des fréries avec un seul sexe atteint et celui des fréries avec tous les deux atteints, ce qui aurait pu indiquer une liaison incomplète au chromosome X.
O Problema eugênico no Brasil (Pequena resenha histórica)
Authors: Kehl Renato Ferraz
Published: July 2016

Die Arbeit gibt einen kurzen historischen Ueberblick über die Entwicklung und den heutigen Stand der Eugenik in Brasilien.
Constitutional Pathology of Erythropoiesis
Authors: Bauer Julius
Published: July 2016

The concept and definition of constitutional pathology. Genetic erythropathies such as constitutional spherocytosis, leptocytosis, ovalocytosis and drepanocytosis and their relation to hemolytic clinical syndromes are discussed. Sickle cell trait, sickle cell anemia, and sickle cell disease have to be distinguished as clinical manifestations of drepanocytosis. They represent a special variety of a « status degenerativus » (Bauer). Four genetic types of human hemoglobin have so far been identified that differ from each other by their molecular architecture and chemical reactivity. Several constitutional abnormalities of erythropoiesis other than those just mentioned are discussed: a hereditary defect in hemoglobin synthesis; erythroid multinuclearity; acanthocytosis; Fanconi's syndrome of hypoplasia and abiotrophy of the bone marrow as another variety of a status degenerativus.
The Frequency of Monovular and Binovular Twin Births in Italy, 1949 - 1950
Authors: McArthur Norma
Published: July 2016

Summary and Conclusions

Provided the assumptions underlying Weinberg's method of differentiation of types of twin pairs are correct, this analysis of the statistics of twin births in Italy in the two years 1949 and 1950 shows that there are variations in the frequency of monovular twin births greater than can be attributed to chance deviations from a constant frequency of monovular twinning. There is a tendency for the frequency to increase with maternal age, and for young mothers, a tendency for it to increase also with parity. In general, the occurrence of monovular twinning is probably more closely related to maternal age than to parity.

The frequency of binovular twinning appears to be independently related to both maternal age and parity. Amongst births of each rank the frequency of twin births increases to a maximum at maternal ages 35-39 years; and, at each age level, the frequency does not change between birth ranks 1 and 2 but subsequently increases fairly continuously. There is a suggestion that there may be a modal birth rank as well as a modal maternal age, and that binovular twinning may be no more closely related to maternal age than to parity.
Contributo clinico allo studio del mongolismo nei gemelli: presentazione di una coppia di gemelle monozigotiche
Authors: Bencini M. Alda
Published: July 2016

The typical picture of mongolism has been observed in both members of a proved monozygotic twin-pair, aged 15. There is no indication in the family history of any hereditary predisposition, and both, the pregnancy and the birth were quite normal. The author reviews all cases previously reported, and expresses the opinion that mongolism is due to some phenomenon occurring during the germinating period, that is to say during the initial stages of development of the egg.
Einseitige Aplasie Der Niere Und Ihrer Abfuhrwege Bei Beiden Eineiigen Zwillings Paarlingen
Authors: Waardenburg P. J.
Published: July 2016

Report of a case of unilateral aplasia in mirror-image form of the kidney and the corresponding ureter in monozygotic male twins.
Observations of the 126α Line of Excited Hydrogen in Southern HII Regions
Authors: Gardner F. F. , McGee R. X.
Published: July 2016

A search for the 126a hydrogen recombination line, with a rest frequency of 3248.713 MHz, has been made in the 19 sources listed in Table I using the Parkes telescope. The beamwidth was 6′ are and the frequency resolution 37 kHz. In the Table RCW refers to the Rodgers, Campbell and Whiteoak Atlas, W to the Westerhout catalogue, and the co-ordinate numbers to the Parkes Catalogue of Sources. In each case the ratio of the peak of the line to the continuum TL/TC, the half-intensity width Δv and the mean radial velocity to the local standard of rest, were determined. The related velocities observed in OH emission and absorption are also shown.
Emission and Absorption of OH in Southern HII Regions
Authors: McGee R. X. , Gardner F. F.
Published: July 2016

Thirty-one radio sources have been investigated for the presence of OH-line radiation in their directions. Absorption and anomalous emission lines were observed.

The equipment and methods of observation have been described by Gardner, McGee and Robinson (1967). An aerial beamwidth of 12’.5 arc was combined with a 48-channel line receiver of bandwidths 37 and 10 kHz.