bluuebunny/crossref_metadata_2025 huggingface dataset:
Versuch einer Lösung des Problems der Vererbung der Chondrocalcinosis articularis
Authors: Valšík J. A. , Šit'aj Š. , Žitňan D.
Published: July 2016

27 cases of articular chondrocalcinosis have been examined, 6 of which individual ones, and 21 derived from 5 pedigrees.

The four main pedigrees belong to families living all in the same village in south-western Slovakia, in a highly inbred region.

The disease is not supposed to manifest itself before the age of 20 to 30 years; before, no symptom can be detected, indicating a morbid condition. The inheritance could be sex-linked, which would explain the higher frequency in females (13 cases) than in males (8 cases).
Emoglobine fetali abnormi nella popolazione italiana
Authors: Silvestroni E. , Bianco I.
Published: July 2016

The authors explain 9 cases of Bart's Hb. and one case of Hb. Alexandra, identified on 3.556 blood samples from the umbilical-cord in human newborn in time. Electrophorectical and spectrophotometrical examinations showed that Bart's Hb. is identical to Hb. H2(the least fast of the two Hb. fractions present into the bearers of Hb. H).

In 7 newborn infants, it has been possible with Bart's Hb. to reexamine them, some months after they were born; it was observed that the said haemoglobins had disappeared; at the same time, in 4 of those subjects, a clear microcytemic picture was noted while in 3 others, still very small, the microcytemic picture appeared still uncertain. In 8 families with newborn babies with Bart's Hb., the two parents were also examined, and in 7 of these families one of the two parents presented a microcytemic picture; in one of them the hematologic traits were normal in both parents, except a very hight alteration of the eritrocyte morphology in the mother.

None of the examined parents presented any abnormal haemoglobin; furthermore, all microcytemic parents (except one) and all children with Bart's Hb. presented a normal rate of Hb. A2. This fact, absolutely similar to that observed in the bearers of Hb. H and in their microcytemic relatives, allow to put forward the hypothesis that Bart's Hb. and Hb. H appear in the same families in which we find that special type of microcytemia without any increase of Hb. A2, which would correspond to the microcytemia of theαchain.
Terminology of Genetic Syndromes
Authors: Bauer Julius
Published: July 2016

Genetically determined abnormalities of structure or function occur either single or in various combinations. As genetic syndromes should be designated only those combinations that are typical, that is, significantly more frequent than would be expected from pure chance association. Some genetic defects are part of a syndrome or they only accompany other syndromes as irregular trimmings in various distribution and frequency. The accumulation of such “degenerative stigmas” as they were known to clinicians of an older generation had been called “status degenerativi” or “polygenopathy” and attributed to a “mess in the chromosomes” by the author long before this concept has been substantiated by the newest discoveries of British investigators. The biologic significance of such polygenopathies as to adaptation, resistance and general viability of their carriers has been stressed and a more satisfactory terminology suggested.
Influences Comparees de l'Age Maternel et de l'Age Paternel sur l'Apparition de la Trisomie G Libre
Authors: Ros Y.
Published: July 2016

In order to study the influence of maternal and of paternal age on the incidence of standard trisomy G, two samples were compared, one of 335 trisomic and one of 330 normal children in the same age range.

The results show an increasing incidence of the anomaly with maternal age, whereas nothing could be concluded concerning paternal age.
De l'Hérédité Mendélienne à l'Hérédité Moléculaire chez l'Homme
Authors: Lamy Maurice , de Grouchy Jean
Published: July 2016

L'année 1901, trois biologistes, Correns, Tchermak et H. de Vries faisaient, à peu près simultanément, la nouvelle découverte des lois que, trente-cinq ans auparavant, Gregor Mendel avait formulées.

Les soixante ans qui se sont écoulés depuis cette date ont vu se succéder un nombre extraordinaire de découvertes qui ont prodigieusement enrichi l'ensemble de nos connaissances et bouleversé jusqu'à notre conception même de la matière vivante.

Dès le début du siècle, W. Johansenn introduisait la notion de génotype et de phénotype qui précisait l'action respective de l'hérédité et du milieu.

A cette époque, l'aspect particulier que prend le noyau de la cellule au moment de sa division, l'identification des chromosomes, leur forme de bâtonnets, leur colorabilité particulière, tout cela avait été reconnu déjà. Désormais, il était possible de comprendre et d'expliquer les lois mendéliennes de la ségrégation et de la recombinaison. Dès 1903 et 1904, Sutton et Boberi affirmaient que les chromosomes sont les véritables supports de l'hérédité. En 1908, L. Cuénot, expérimentant sur la souris, établissait définitivement que les lois mendéliennes ne s'appliquent pas seulement aux végétaux et aux insectes mais aussi aux mammifères et qu'elles sont des lois générales pour les espèces vivantes.
Concerning the Genetics of Mental Features
Authors: Mohr Jan
Published: July 2016

It is immediately apparent, that the difficulties encountered in studies of the genetics of the mind are formidable, for several reasons. In the first place, the traits concerned are difficult or impossible to classify or to measure with accuracy. In the second place, they may be unstable towards environmental influence; and they vary with age, or exhibit periodic changes.

It is therefore not surprising that our understanding of genetic mechanisms is limited in those conditions where analysis has been carried out merely on the basis of the mental traits.

The situation is strikingly different in the conditions where an association has been found between a mental trait and some clearly recognisable physical or biochemical trait. As we all know, in several such cases an exact genetic analysis in Mendelian terms has been found possible, for instance in the amaurotic idiocies and phenylketonuria.
Human Population Genetics, 1961
Authors: Neel James V.
Published: July 2016

The more significant developments in the field of human population genetics during the past decade can for the most part be subsumed under three headings, as follows:

1. The recognition of an increasing number of genetic traits capable of serving as analytic tools in population studies.

2. The recognition that many of these traits attain frequencies, although some only in limited areas, such that they have to be labelled genetic polymorphisms. Table 1 is an attempt to list the presently recognized human polymorphisms for which the genetic basis seems clear.

3. The emergence of at least a few clues as to the factors responsible for the maintenance of some of the plymorphisms, although it must be confessed that for the majority of the traits listed in Table 1, there is as yet no real insight into their role in populations.

As is well known from the contributions of Fisher, Wright, Dobzhansky, Lerner, Crow, Kimura, and others, genetic polymorphisms have the property of acting as stabilizing mechanisms in maintaining certain aspects of the fitness of populations. Consequently, whereas what we may term the “classical model” of the dynamics of a genetic locus in a population looked to mutation pressure as the source of the impairment of population fitness which could be traced to that locus, the “polymorphic model” views that impairment as in part a price a population pays for the maintenance of an optimum level of heterozygosity at that locus. The two models have such profoundly different practical and philosophical consequences that it is small wonder that in recent years the running discussion of their relative merits and roles has generated a degree of heat matched by few other current biological questions.
The Pool of Harmful Genes in Human Populations
Authors: Fraser G. R.
Published: July 2016

The concepts of dominance and recessivity as applied to human genetical traits are losing their original connotations. It is better to speak of genes unconditionally deleterious in heterozygote form and those for which such disadvantage is doubtful. The classical dominant traits come into the first category and in the large majority they give rise to grossly pathological conditions and are ipso facto harmful-many in fact are lethal. In the case of these genes it is difficult to conceive that any agency other than recurrent mutation is instrumental in keeping them at their present frequency.

Assuming that such mutation rates are of the same order of magnitude over the entire spectrum, the frequency of these traits will vary inversely with their severity and this is found to be approximately true-from an incidence of 3/million for an almost invariably lethal trait such as acrocephalosyndactyly to 1/1000 for a relatively innocuous trait such as ptosis.

We would not expect genes even at the higher of these frequencies to be often seen and recognised in homozygote form with the low degree of inbreeding prevalent in human populations. This is in fact confirmed in practice and examples of possibly homozygous forms or dominant conditions are very rare. To be recognized as causing a recessive trait, with a few exceptions in inbred communities, a gene must be more common and often cannot therefore be maintained by recurrent mutation alone. Very wide geographical variations in the incidence of such traits also militate against such an interpretation. Phenylketonuria is an excellent example. The abnormal gene reaches a frequency of as much as 1% in some populations and it is unknown in others.
Aspects Génétiques du Mélange des Populations
Authors: Sutter Jean
Published: July 2016

Le problème posé aux généticiens par le mélange de deux populations, d'abord isolées, peut être considéré sous différents angles. On peut avancer, avant tout, qu'estimer l'effet du mélange suppose qu'on connaît bien la composition des populations de départ. Toute grande population est composée de populations partielles.

Wahlund, en 1928, s'est demandé se qui ce passerait si deux populations bien délimitées échangeaient quelques-uns de leurs individus. Le moyen le plus simple, pour répondre à cette question, est d'envisager le cas d'une grande population divisée en plusieurs sous-groupes, d'égale dimension, à l'intérieur desquels les mariages se font au hasard et où les gènes sont distribués suivant la loi de Hardy-Weinberg. La conclusion la plus importante de l'examen des résultats est que, sous l'effet de la subdivision, la proportion des homozygotes pour un gène donné, dans l'ensemble de la population, s'accroît aux dépens des hétérozygotes, d'une quantité égale à la variance moyenne de la fréquence de ce gène.

Cet effet peut se comparer à celui que la consanguinité manifesterait si on envisageait la population dans son esemble. Les résultats sont un peu plus compliqués si les sous-groupes constituant la population sont de dimensions inégales. Mais la formule de Wahlund s'applique encore et donne les mêmes conclusions. A partir de ces constatations, on peut imaginer qu'il soit difficile de déterminer des populations perfaitement homogènes du point de vue génétique, et qu'a fortiori le résultat du mélange de ces mêmes populations ne puisse être que difficilement apprécié.
Classification of Psychotic Disorders from a Genetic Point of View
Authors: Hurst Lewis A.
Published: July 2016

In musing upon my assignment for this Congress, I became aware of limitations that I must impose upon myself, inherent in the title of the address. First, the words “Psychotic Disorders” point to the fact that the whole province of Psychiatry is not included in its scope, and whilst it is pertinent to include with the psychoses, suicide, which is a not infrequent feature of the psychotic disorders, and the epilepsies, which commonly have a psychotic aspect, the large areas of the psychiatric field characterized as mental defect, psychoneurosis, psychosomatic conditions, psychopathic personalities, and sexual deviations (including homosexuality) are not relevant to to-day's talk. Nor is it my prerogative to treat of recent developments in the realm of chromosome anomalies, such as the trisomy underlying Mongolism, karyotypes and the sexing of cells. In the second place, the term “Classification” suggests to me that my task is to confine myself to the findings of genetic studies in our field of discourse and not stray into the tempting pastures of eugenics, or biochemical genetics with its rich promise of reversibility and cure by modern pharmaceutical means. Even now with our feet firmly on the ground of genetic fact, after this preliminary delimitation, we are not entirely free on the semantic side of things, for, if I mistake not, some appearance of ambiguity would seem to lurk in our title. Is its meaning that within the discipline of Psychiatry we are to attempt a classification of the psychoses from a genetic point of view, or, is it that as an exercise within the realm of Genetics we are seeking to classify the specific and non-specific hereditary mechanisms, which have been postulated as underlying different psychotic disorders? I incline to the view that both of these programmes are significant, and appropriate to the endeavour to which this paper is dedicated.
Sulla interferenza fra compromissioni miopatiche e nervose nella sindrome di Stilling-Turk-Duane (A proposito di due casi familiari)
Authors: Colombi A. , Battistini A.
Published: July 2016

The Authors have observed two familial cases presenting the Stilling-Turk-Duane Syndrom. In one of them it has been possible to carry-out the electromyography. The Authors conclude that, though there is no evidence of a peripheric muscular lesion, the existence of an intranuclear nervous lesion is quite likely.
Il sesso cromosomico nella distrofia miotonica
Authors: Ramelli Emilio
Published: July 2016

The Author carried out tests for Barr's chromatine in 6 male subjects suffering from dystrophia myotonica and found concordance between chromosomal and gonadal sex.
Ulteriore contributo alla Genetica della Deformità di Madelung
Authors: Monastero G. , Mandalá I.
Published: July 2016

The study of three sibships has demostrated that Madelung's deformity is transmitted by dominant monomerous hereditary character with variable expressivity mosty sexcontrolled.
Ricerche statistiche e genetiche sulle malformazioni congenite
Authors: Beolchini P. E.
Published: July 2016

After a synthetic review of the literature, the Author reports the results of his statistical researches on the parental age of 739 congenitally malformed children born, from 1942 to 1957, at the Istituto Provinciale di Maternità of Milan.

Concerning the mongolism it seems proved the influence of some particular factors correlated with the maternal age, while on the contrary the paternal age and the birth-order seem to have no influence. About the other malformations examined in this research the parental age and the birth-order appear without relevance.
Nuovi contributi allo studio delle malformazioni assiali: A) Coppia MZ con torcicollo osseo concordante da schisosinostosi cervicale; B) Coppia MZ con torcicollo discordante e anisocoria concordante (status dysraphicus)
Authors: Gedda L. , Iannaccone G.
Published: July 2016

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.
Correlazioni ed analisi fattoriale fra le varie manifestazioni cliniche della diatesi mesenchimosica in rapporto al fattore età
Authors: Bartoli V. , Serneri G. G. Neri , Nicoletti I.
Published: July 2016

The clinical observation demonstrates that Arthrosis, Varicous Veins, Hernia, Epistaxis juvenilis recidivans and spontaneous Ecchymosis appear very frequently associated in a same subject. Nevertheless the validity of this association among these clinical pictures could be invalidated if one could demonstrate the association itself is due to the influence of age.

A research has been accomplished on 413 subjects, 156 men and 257 women, at the purpose of seeking out the influence that age can have on the rising and above all on the association of these manifestations.

The AA. have elaborated the data by use of the common correlation coefficient, of the partial correlation coefficient, with age kept constant, and of the factorial analysis.

The results can be so summarized:

1. there is a positive correlation among the various clinical pictures (table 3).

2. No manifestation shows a significant correlation with age, excepting arthrosis (table 4).

3. After the elimination of the influence of age, the correlation is still significant (table 5).

4. The factorial analysis brings the existence of a factor joint with the various manifestations and indipendent of age into evidence (table 6).

The results of this research strenghten the clinical reality of the mesenchymosic diathesis.

The pathogenetic common factor conditioning the rising and the association of these manifestations is most likely to be sought in changes of the biochemical state of connective tissue wich causes the output of a connective less apt to the support and easier predisposed to wear out. With the genetic factor other situations have therefore a particular interest, first in this group are the endocrines ones, wich effect variously the penetrance and espressivity of the gene and so the unset and evolution of the Mesenchymosis.

The AA. underline, once more, that this syndromic group is to be kept distinctly separated from the other large group of diseases of connective tissue i.e. the socalled reactive mesenchymopathic diseases or rnesenchymitis (not properly called collagen diseases or collagenosis and by some even mesenchymosis). That is definitively different, because the inflammatory nature, from the mesenchymosic diathesis (or heredo-constitutional Mesenchymosis) wich is due to changes of the supporting function of the tissues of mesenchymal origin.
Genetica e Anestesia
Authors: Gedda Luigi , Rizzi Ruggero
Published: July 2016

Desideriamo fare il punto di una ricerca intorno ad alcuni aspetti dell'anestesiologia che possono interessare la genetica, ricerca che abbiamo in corso da oltre un anno e che ci permette di formulare alcune prime considerazioni di carattere generale.

Presentando gli atti di un « Symposium » intorno agli effetti prodotti dai farmaci sul comportamento dell'uomo e degli animali, H. H. Pennes osserva testualmente: « As a modern science, psychopharmacology is still in its infancy despite the race has been exposing it self to drugs with mental actions since antiquity. The infant is now being increasingly nurtured by its related disciplines-biochemistry, physiology, pharmacology, psycology and psychiatry ».

Sembra un po' strano che H. H. Pennes non abbia ravvisato, fra le discipline che possono alimentare la psicofarmacologia in questo suo periodo d'infanzia, anche la scienza dell'eredità, cioè la genetica. Infatti è perlomeno pensabile che, essendo molte le funzioni mentali tributarie dell'eredità, come le ricerche genealogiche, gemellari e raziali dimostrano, anche la reazione a dei farmaci anestetizzanti e psicotropi possa presentare delle costanti geneticamente controllate.
Problemi di Genetica Oculistica: V. Coppia gemellare DZ con Atrofia dell'Iride concordante e Buftalmo discordante
Authors: Gedda Luigi , Bérard-Magistretti Sandra
Published: July 2016

The Authors report on dizygotic twins of 7 months and of different sex. Both twins were affected by iris atrophy, which in the male was associated with buphthalmos acquired at about 6 months of age.

The hypothesis is made that the primitive heredity consists in the iris malformation and that in this case the buphthalmos is secondary to it.
Genetics of Microcephaly in Man
Authors: Koch Gerhard
Published: July 2016

According to recommendations in radiation and mutation genetics, made in 1956 at the Copenhagen Meeting of a study group of the World Health Organization, a registration of hereditary traits and clinical syndromes is being carried out within the District of Münster, Province of Westfalia (Germany) since 1957. One of the pathological conditions included in this research program is microcephaly investigated from a clinical as well as from a genetic stand-point. The preliminary results of our study on microcephaly in man are given in this report.
The Ratio of monozygotic to dizygotic affected twins and the frequencies of affected twins in unselected data
Authors: Stern Kurt
Published: July 2016

With complete ascertainment, in populations with twin material unselected except for the presence of a specific trait (1) the ratio of ascertainable monozygotic to dizygotic twin pairs lies between ½ and 1 of the ratio in the general population and (2) the ratio of all ascertainable twin pairs to the total number of individuals lies between one and two times of that found in the general population. Formulae are derived which relate the frequencies of ascertainable twin pairs to the frequencies, from « suitable » parents, of the « affectable » genotype and to its penetrance. The calculated expectations are compared with some observed values.
Twins and Cerebral Palsy a Combined Study
Authors: Gingras G. , Lemieux R. , Susset V. , Chevrier J. M. , Quirion C.
Published: July 2016

A survey conducted at the Rehabilitation Institute of Montreal, covering 250 cases of cerebral palsy, came to include three pairs of identical twins, all discordant as to the disease. Pair I was female, 8 years old; Pair II, male, 6 years old; Pair III, female, 18 years old.

All vere subjected to physiatric, psyschiatric, and psychological tests as well as to tests involving activities of daily living. In each instance, the study was completed by EEG's still and motion pictures. The investigations included psychological and psychiatric evaluation of parents.

Extensive medical, psychological and psychiatric conclusions are drawn.
Physiologic Variation Of Renal Function In Twins: Diuresis After Water Intake
Authors: Aschner Bertha M. , Gartler Stanley M.
Published: July 2016

In six monozygotic and six dizygotic healthy twin pairs the urine elimination after rapid drinking of 1000 cc of water (Fishberg-Volhard test) was studied. Considerabbe variation wes observed in the diuretic response of these individuals, particularly in the maximum rate of the reactive diuresis. The minute volumes of urine during the half-hour period of the largest output were compared between the partners of each twin pair. It was found that the difference of the maximum rate of urine flow was significantly (0.01 level) smaller between one-egg than between two-egg twins under otherwise equal conditions. The concept of genetic factors controlling the function of the renal tubular cells is discussed.
Ricerche genetiche sulle neoplasie dell'utero
Authors: Emilio Beolchini Pier , Angelo Cresseri , Piero Gianferrari Luisa Malcovati , Giuseppe Morganti
Published: July 2016

The Authors refer the results of the genetical research on 199 probands with cancer of the cervix uteri (unselected sample of the 418 collected cases). In comparison with a suitable control material a significant higher familial incidence does not result.
Fondamenti genetici della diatesi mesenchimosica
Authors: Serneri G. G. Neri , Bartoli V.
Published: July 2016

Le attuali conoscenze sulla fisiopatologia dei connettivi ci permettono di considerare questi tessuti sopratutto per la loro attiva partecipazione agli scambi metabobolici e, in condizioni patologiche, per le loro funzioni difensive ed in genere reattive. È venuto a crearsi un grande raggruppamento nosologico — le mesenchimopatie reattive (impropriamente dette malattie del collageno) — la cui base istopatologica e patogenetica consiste in una particolare alterazione del connettivo, particolarmente della sostanza fondamentale di questo.

La riconosciuta essenziale importanza di questo tessuto nello svolgersi dei processi flogistici ed istoreattivi in genere non deve tuttavia far dimenticare l'altro aspetto della funzione del connettivo da più tempo noto, quello della sua funzione di sostegno, da intendersi non solamente in senso meccanico passivo, ma quale partecipazione attiva alla regolazione ed alla eufunzionalità dei vari tessuti, organi ed apparati.

Una primitiva turba della funzione meccanica di sostegno del connettivo può essere responsabile di molteplici quadri morbosi e soprattutto può costituire quella patologia di sfondo capace di creare, più spesso condizionare e modificare una eventuale patologia di primo piano.

Accanto ad una patologia del connettivo schiettamente flogistica (le mesenchimopatie reattive) deve essere considerata pertanto una patologia dei tessuti di origine mesenchimale a impronta non flogistica (nella quale i fenomeni flogistici, se presenti, costituiscono una contaminazione secondaria non obbligata) il cui momento patogenetico essenziale risiede in una primitiva alterazione della funzione di sostegno, che, pur nella più ampia visione attuale delle funzioni dei connettivi, rimane sempre fondamentale.
The percentages of concordance in twins and mode of inheritance
Authors: Huizinga J. , Heiden J. A. v. d.
Published: July 2016

A mathematical model is described, covering the case of paired recessive diallelomorphs with different degree of penetrance in the pairlings, according to whether the proband carries 1) the trait, 2) the genotype but not the trait, 3) neither the genotype nor the trait. The incidences of trait-carrying pairlings in the three proband groups are expressed in terms of population genetics and formulae given, together with some conclusions.
Correlazione fra alcuni caratteri fisici e psichici in gemelli simili e dissimili
Authors: Marcozzi Vittorio
Published: July 2016

The Author studies the relations between the physical and psychical resemblances in two groups of similar (18 pairs) and dissimilar (21 pairs) twins.

The physical characters considered are: the measurements and indexes of the head, face and nose.

The psychical characters are: attention, auditive memory, visual memory, taste for colours and mental level.

The similar twins betray great resemblance with regard to the measurements and indexes of the head and face and very notable differences with those of the dissimilar twins (excepting the measurements and indexes of the nose).

With regard to the psychical characters studied, many (visual memory, taste for colours, mental level, concordance in mistakes) do not show any notable differences. The auditive memory (weak) and the index of attention (very high) betray, however, notable differences. No correlation is observed between physical resemblance (given in millimetres) and concordance in mistakes; while the relation is strong between physical resemblance and the index of attention.
Ricerche genetiche sulla predisposizione all'artrosi « dolorosa » e sui suoi rapporti con i reumatismi primari
Authors: Serneri G. G. Neri , Bartoli V.
Published: July 2016

On the ground of an inquiry, carried out on pedigrees of 74 patients with arthrosis, clinically evident, the AA. found evidence of a genetic predisposition to arthrosis.

On a total number of 809 membres, excluding the proband, of these families, they found in 20,8% of them, painful arthrosis, while in 100 families, taken as controll, this percentage is 5,5.

The genetic predisposition to « painful arthrosis » is trasmitted as a dominant character with the parents condition of ge 65,2%), warying according with reduced penetrance (averahaving or not having this disease. There is no avidence, according with the statistical data obtained, of a common genetic ground of predisposition to painful arthrosis and to the two main Rheumatisms (Rheumatic Fever and Rheumatoid Arthritis).
Ricerche genetiche sull'epitelioma adenoide cistico benigno. (Morbo di Balzer e Ménétrier o di Brooke)
Authors: Serra Angelo , Bernardi-Ronzoni Maria Giulia , Paoletti Rodolfo
Published: July 2016

A study of 30 families, belonging to a 290 individuals pedigree, showes that the epithelioma adenoides cysticum is genetically influenced by an autosamal dominant factor. But, owing to penetrance differences between sexes, apparently the disease is irregularly transmitted.
Ricerche sulla familiarità neoplastica
Authors: Gianferrari Luisa , Morganti Giuseppe
Published: July 2016

The problem of the familial incidence of cancer has been studied on the basis of the genetical researches of the last ten years on leukemia, cancer of the breast, uterus, prostate, bladder and stomach. The conclusion has been reached, except for the cancer of the bladder, of the existence of a significant familial incidence of cancers.
Agrammatismus und Dyslalie bei eineiigen Zwillingen
Authors: Luchsinger R.
Published: July 2016

Two cases are reported of MZ twin pairs with a history of retarded speech and universal stammering followed by concordant agrammatism.

A survey of a number of twin pairs reveals, however, discordance in speech development, in stammering and in language proficiency: agrammatism is, therefore, e genotypical trait.
Il torcicollo osseo congenito nel quadro della Schisosinostosi Assiale Congenita Familiare (Coppia gemellare forse monozigotica con S A C F concordante)
Authors: Gedda Luigi , Iannaccone Guido
Published: July 2016

In a previous work the Authors have reported that the so-called «Klippel-Feil Syndrome» should in many cases be ascribed to a hereditary disease of the axial skeleton. This disease can express itself in various degrees (macroforms or microforms) fundamentally identified by fissure and synostosis: the Authors suggested that the disease might be identified as «schisosynostosis axialis congenita familiaris».

In the present work the Authors report the case of a twin suffering from congenital osseous torticollis, whose co-twin, apparently healthy, was found instead to be affected by posterior synostosis of C2 and C3 and by fissure of S1 and S2, as well as bv sacralization of L5 and traces of cervical platyspondyly.

In the same family the father was found to suffer from basal segmentation of the dens epistrophei, by cervical kyphosis and fissure of S1; a brother was affected by synostosis of the laminae of C2 and C3.

In the discussion of the case the Authors come to the conclusion that congenital osseous torticollis can be ascribed (as was the case with Klippel-Feil's Syndrome) to «schisosynostosis axialis congenita familiaris» of which it represents another possible anatomo-clinical expression.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). III. Sulla comune predisposizione genetica al reumatismo acuto primario e al reumatismo cronico primario
Authors: Serneri G. G. Neri , Bartoli V.
Published: July 2016

This study is based on pedigrees of 479 patients with Primary Rheumatism (287 patients with Rheumatic Fever and 192 with Rheumatoid Arthritis) which are compared with pedigrees of 300 controls. The conclusion of this study is that the predisposition to Rheumatic Fever and to Rheumatoid Arthritis is trasmitted by a single principal autosomal gene wich is dominant and has reduced penetrance and variable expressivity.

The appearance of the acute and the chronic forms of the disease is in function of accessory modifying factors, as genetic and acquired ones. These factors condition the variation of the organic reactive response into the ambit of «type of reactivity» trasmitted by the principal factor. The possible existence of accessory modifying factors, admitted because the way of appearance of the disease in the various generations of families, it occurs in similar situations of human and experimental genetics.

The predisposition to primary rheumatic disease has no genetic relationship to the diathesis of allergic diseases and the diathesis of degenerative connective tissue disorders (mesenchymotic diathesis).
Sarcoidosis in identical twins
Authors: Allen Howard E.
Published: July 2016

The simultaneous occurrence of sarcoidosis in two 24yearold white men who where enzygotic twins is reported. Manifestations of the disease as well as its clinical course were identical in both twins.
Ricerche genetiche sulle neoplasie dell'utero
Authors: Emilio Beolchini Pier , Angelo Cresseri , Luisa Gianferrari , Piero Malcovati , Giuseppe Morganti
Published: July 2016

The Authors refer the results of the genetical research on 91 probands with cancer of the corpus uteri (unselected sample of the 144 collected cases). In comparison with a suitable control material significant higher familial incidences result in females for uterine cancers and in males and females together for cancers of all sites.
Records of Y-inherited hairy ears in India
Authors: Gates R. Ruggles
Published: July 2016

While traveling in East Africa, three typical cases of hairy ears were observed incidentally in natives of India, two of whom were from Goa. The inheritance in all three cases was compatible with location of the gene in the Y-chromosome. Two other independent cases have been reported to me from the same general part of India, southeast of Bombay, which indicates a considerable frequency of the gene in this area.

The only previously known pedigree of this condition came from Italy in 1907, and several independent cases in males are described in the early Italian literature. In all these Italian families the hairy ears were associated with insanity or other psychiatric conditions, but this association may have been fortuitous, and hairy ears may be as frequent in Italy as in India.
Sportfamilien
Authors: Grebe Hans
Published: July 2016

After an earlier report about twins and sports the question of dependence of the aptitude for sports from the genotype is again examined. Examples are provided by families of famous international sportsmen as well as by families from own larger examinations.

It is established that the proportion between parents and siblings in the sport-families is about 1: 1 and probably dominant genes are the cause of hereditary talents for sports. No evidence could be given for recessive inheritance.

As sporting talents are to be seen in many different forms, several independent genes for sporting endowment and accordingly heterogeny may be supposed.

As the results of the twins examinations have shown, further examinations on families with special sporting capacity remain to be seen.

The result of the examinations of Prof. Dr. Luigi Gedda are of special importance.
Anemie emolitiche da anomalie ereditarie dell'Hb.
Authors: Gatto Ignazio
Published: July 2016

New researches have made it evident that besides the two normal Hb, the adult one (a) and the phoetal (f), there are other pathologic Hb:c, e, s, d, g, h, i.

These Hb, excepting theh, are present in the hetherozygote on every healthy person and in the homozygote, excepting thegHb, determine chronic hemolitic anemia.

ThefHb, or a very similar Hb, is present in the Thalassemia minor and major, in some homozygote cases of abnormal Hb, in the interreaction between two different genes of these Hb, or between one of these genes with the one of Thalassemia.

We may retain that the genesa, c, s, d, e, g, i, form an allelomorphic series. The geneThis not a part of this series.

Since in the homozygotesss, cc(in absence of the genea) the quantity of abnormal Hb does not always reach the same percentage, we may logically retain that the different quantity of abnormal Hb possessed by thesandchetherozygotes depends from the different synthetic capacity of the genes of the two abnormal Hb. The appareance offHb may be the expression of a phenomenon of physiopatological compensation, which occurs when Hbaformation is prevented.
Ricerche immunoelettroforetiche sul sangue funicolare nei gemelli
Authors: Abelli G. , Esposito A.
Published: July 2016

The Authors have investigated by means of the immuno-electrophoretic method the protein composition of the funicular blood of 19 twin-pairs from pregnancies of 5 to 9 months. Monochorionic twins showed a concordant picture, while in 7 of the 14 bichorionic twin-pairs slight differences could be observed, due to the presence in one of the twins of one or two more lines. The Authors put these results in correlation with the hypothesis of a genie control of the production of proteins.
La ricerca gemellologica nell'epilessia
Authors: Braconi L.
Published: July 2016

The A. has studied 51 pairs of epileptic twins: 20 were MZ (11 ♂, 9 ♀) and 31 DZ (9 ♂ 12 ♀, ♂♀).

An ereditary aetiology has been found in 65% of cases:

a) by the concordance of 80% of MZ against 35% of DZ. The MZ concordant in the symptomatic form were 62,5% the DZ 14, 5% the MZ concordant in the so-called idiopathic form were 91%, the DZ 50%.

b) by the incidence in one third of the families of a relative with epileptic seizures (3-4,7% against the 0,5% of general population).

Genic information is not specific either for the convulsive form nor for the electroencephalografic dysrythmia which are only some of the phenotypic manifestations of a deeper disturbance. The pathologic gene or genes should act at a metabolic level with a pleiotropic action upon more functions of the nervous system. The genetic action of the major gene is that of an autosomic, dominant one.
Studio Radiologico sul Comportamento della Ossificazione di Fratelli nel Periodo Neonatale
Authors: Bergamaschi P. , Coucourde F.
Published: July 2016

The behaviour of the ossification in newborn brothers has been radiologically examined. The findings indicate a uniform behaviour with respect to the duration of the pregnancy in the sons of the same mother. The authors pointout the possible interpretations of this fact.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). I - Ricerche sui fattori ereditari del reumatismo acuto primario
Authors: Serneri G. G. Neri , Bartoli V.
Published: July 2016

This study is based on pedigrees of 287 patients with Rheumatic Fever, which are compared with pedigrees of 300 controls: 11,7 per cent of all relatives in the first group had rheumatic fever, compared to 2,2 per cent of all relatives in the control group.

An hereditary predisposition to rheumatic fever is definitevely to be admitted.

This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity.

It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesi of degenerative connective tissue disorders mesenchymotic diathesis.
The «Accuracy» of estimates of MNS gene frequences
Authors: Boyd William C.
Published: July 2016

Wiener's methods for estimating gene frequencies from MNS data are compared with the maximum likelihood methods, and found not to be fully efficient. The extra effort and expense which would result from the use of such methods is discussed. It is concluded also that the number of significant figures advised by Wiener is not sufficient.
Sur le postulat de la comparabilité dans la methode des jumeaux
Authors: Zazzo René
Published: July 2016

Among the postulates of the twin method the Author describes especially the fundamental one of comparability. Whenever one assumes that the differences between monozigotic twins are due only to heredity (this is the basis of the twin method), one postulates in fact that environmental influences are of equal importance and act in the woy to differentiate one from the other both monozygotic and dizygotic co-twins.

The comparison between the two types of twins implies the identity of environmental influences and a conception of heredity and environment as indépendant variants.

As far as the psychological environment is concerned, the Author faithfully reports works on twin-condition: psychologically environment is defined according to the structure of the pair, of the duty of each co-twin the pair, and thus: a) two identical twins never hare an exactly identical environment; b) the environment of identical twins is never the same as that of non-identical twins.

Concerning pre-birth and peribirth conditions, the Author reaches the same conclusions of non-comparability between monozigotic twins, dizygotic twins and control groups of non-twins: difference in lenght of pregnancy, in weight at birth, in the rate of stillbirth and new-born deaths, in the mother's age.

The Author concludes not for abandoning the twin-method but for a revision of the criteria, and for a change of perspective.

The failure of comparison and of mathematical analysis applied to the difference between heredity and environment is not. completely negative. It reveals the inadequacy of such criteria at least in the field of psychology, and leads to overcoming them. The psychological environment does not appear as a still picture, but rather as a situation defined by the inter-social and differential duties. Furthermore, heredity and environment are variants closely dependent on each other.
Lo studio dei gemelli
Authors: Gedda Luigi
Published: July 2016

The report explains how twin-studies may affect the science of population, both directly by their frequency and determining factors, and indirecdy in as much as twins provide a useful research method to study the physical and psychological traits which identify a human population.

It is possible, in fact, through the method of intrageminal-in-tergeminal comparison and through other methods, to study the population's normal and pathological traits.

As far as diseases are concerned the twin method affords the chance to discover or to reassert the hereditary nature of many diseases as well as the hereditary aspects of morbid receptivity and reactivity in the esogenous diseases; furthermore, it is possible to probe deeper while studying hereditary diseases especially in the fields of phenogenesis, variability and nosological classification.

The study of psychological traits in twins makes it possible to identify the instinctive tendencies and the hereditary components of the mental functions; also the study of learning capacity and of psycho-somal phenomena based on heredity.

In order to make it easier to complete twin studies on an increased number of twin sets, statistical surveys and social provisions of various kinds in favor of twins (which already have yíelded good results in Italy) are advocated.
Il mostro di Vipiteno (xifodimo tetrabrachio maschile)
Authors: Gedda Luigi
Published: July 2016

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.
Une mère et ses deux filles jumelles univitellines atteintes de chondrodysplasie
Authors: Pfändler U.
Published: July 2016

Till to-day there are very few concordant and discordant twin pairs known with regard to chondrodysplasy. We describe here a family in which as well the mother as also her both twin daughters are affected with this disturbance of development. The monozygosity of the sisters is beyond all doubt.
Nanismo degenerativo tipo di Amsterdam (Typus Amstelodamensis – Malattia di Cornelia De Lange). Presentazione di un caso e considerazioni di ordine genetico
Authors: Borghi A. , Giusti G. , Bigozzi U.
Published: July 2016

The authors describe a new case of degenerative nanism « typus amstelodamensis », which shows all fundamental characteristics of the syndrome. From the hormonic research, which was carried through for the first time, resulted normal values (for the age of patient); this fact proves the fundamental normality of the endocrine system, which was already found by De Lange in the anatomical-pathological field.

Moreover, the genealogical examination led for the first time to the assumption of the existence of a genetic factor causing this particular type of a multiple degeneration.
Trigemellanza dizigotica con alopecia congenita acromotrichia e linea palmare trasversa concordanti nei trigemini monozigotici
Authors: Gedda Luigi , Benigni Amelia
Published: July 2016

The Authors descrive a case of ten-year-old dizygotic triplets (two monozygotic males and one female) of which the dizygotic twins on concordantely affected by congenital alopecia acromo-trichosis and transverse palmar line.

The findings are connected with a double hereditary disease (epilepsy and another ailment of the nervous system) found in the triplet's family tree.

The Authors point out that in the literature this si the first reported case of concordant alopecia congenita on monozygotic twins and that the term congenital alopecia might be very well be changed into hereditary alopecia.
Eineiige Zwillinge mit dominanter Innenohrschwerhörigkeit
Authors: Duis von B. T. , Eickhoff H.
Published: July 2016

1. We discuss previous casuistic reports published until now on twins suffering from hereditary deafness of the dominant type.

2. One case of hereditary deafness in a pair of monozygotic twins is reported, the twins showing no considerable difference in their acustical defect.

Prove that deafness in this case was conditioned by heredity and did not arise from an explosion, is given by the mono-zygozity of the patients.

3. It is imperative that each case of questioned hereditary deafness described above should be controlled by audiometric test.
La dysostose mandibulo-faciale (Franceschetti) a propos d'une obsèrvation familiale
Authors: Schachter M.
Published: July 2016

The a gives a general survey of the cardinal signs of the dysostosis mandibulo-facialis described, 1944, by A. Franceschetti and P. Zwahlen, and mention the 11 familial types of this clinical picture. He adds his 12th family where the father and two children are afflicted with the same dysmorphosis of the mandibulofacial type.

A comparative of the show the malformations of the thre members of this family. The diagnosis dith the new type of dysostosis described by Ullrich and Fremery-Dohna is also mentionned.
Changes in twin frequencies
Authors: McArthur Norma
Published: July 2016

The statistics of twin births in Australia and Italy were examined and the frequencies within the two countries at different periods of time compared. There has been an increase in monovular twin frequencies in Australia over a period of 25 years in spite of an increasingly higher proportion of first maternities amongst total maternities and generally lower maternal age. The cause of the increase could not be ascertained because of insufficient information. The decrease in gross frequency which occurred in Italy was found to derive from the smaller number of maternities to women of high parity in recent years. The frequency of twin births to women of corresponding age and parity remained unaltered and differed only slightly from comparable groups of Australian women.