bluuebunny/crossref_metadata_2025_split huggingface dataset:
Über 27 Sippen mit infantiler amaurotischer Idiotie (Tay-Sachs)
Authors: Hanhart E. 
Published: July 2016

SUMMARYThis 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

SummaryHeberden'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.
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.
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.
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.
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

SummarySelected 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.