bluuebunny/crossref_metadata_2025_split huggingface dataset:
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.
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

SUMMARYThe 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.
Ricerche statistiche e genetiche sulle malformazioni congenite
Authors: Beolchini P. E. 
Published: July 2016

SUMMARYAfter 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

SUMMARYThe 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

SUMMARYThe 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

SUMMARYThe 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

SUMMARYAccording 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

SUMMARYWith 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

SUMMARYA 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

SUMMARYIn 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

SUMMARYThe 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

SummaryA 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

SUMMARYThe 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

SUMMARYOn 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

SUMMARYA 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

SUMMARYThe 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

SUMMARYTwo 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

SUMMARYIn 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

SUMMARYThis 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).
Ricerche genetiche sulle neoplasie dell'utero
Authors: Emilio Beolchini Pier , Angelo Cresseri , Luisa Gianferrari , Piero Malcovati , Giuseppe Morganti 
Published: July 2016

SUMMARYThe 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

SUMMARYWhile 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

SUMMARYAfter 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

SUMMARYNew 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.