bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mongoloide Idiotie bei Mutter und zwei Kindern aus Inzesten
Authors: Hanhart von Ernst 
Published: July 2016

SUMMARYA mongoloid girl with low-grade idiocy, the 10th of 12 children out of a very poor herds-mans' family in an isolate prealpine place of western Switzerland, was examined at the age of 28. Her mother is recovered on account of schizophrenia (catatonia tarda) as 4 of her (the probands) are feebleminded brothers.At 21 and 23 years of age the mongoloid proband gave birth to a mongoloid daughter and a mongoloid son; while the latter died of bronchopneumonia when 17 months old — the diagnosis of his mongolism having been ascertained by a pediatrician the first was seen by the author at age 7. The mongolism of mother and daughter is shown by several photographs and by palm and sole prints.The father of the 2 mongoloid children is most probably the probands' next old brother, a non mongoloid, but highly imbecille.
Muscular Dystrophy in Three Pairs of Twins
Authors: Soltan Hubert C. 
Published: July 2016

SUMMARYThree pairs of male twins concordant for muscular dystrophy are presented. Two of these pairs are shown to be monozygotic and affected with the Duchenne form of muscular dystrophy. The third pair is probably dizygotic. The clinical and genetical features of each pair of twins are discussed. Pedigrees with photographs of the twins are presented.
Risultati delle nostre osservazioni sulla Drepanocitosi e Thalassodrepanocitosi
Authors: Gatto I. , Russo G. 
Published: July 2016

SUMMARYThe Authors studied 60 individuals bearing a positive test of sickle shaped cells (40 healthy bearers and 20 sick people).Drepanocytosis besides causing a Splenomegalic haemolitic disease in an homozygous state can also cause it in pure heterozygous individuals of high expressivity. Thalassodrepanocytosis due to a more frequent occurrence of thalassemia is found with a greater occurrence than sickle cell anaemia in Sicily.A patient showed a Salmonella osteomyelitis and two more a syndrome of acute abdomen due to a splenic occlusion.The study of myelograms showed in all the patients (drepanocytosis, thalassodrepanocytosis) a clear erythroblast hyperplasia.A cytometric study of the different aspects of the erythron was carried out.The study of Hb composition made through paper electrophoresis and the amount of alkali resistent Hb showed in the patients bearing sickle cell anaemia the presence of a unique band with the speed of Hb S and the coexistence of different amounts of Hb Ar (normal values to 33,6%observed in a pure etherozygous). Quantities of Hb Ar above the norm where always observed in thalassodrepanocytosis, but the electrophoretic finding, due to the coexistence of Hb A, ran from the shaded unique band to two distinct bands.
A study of familial aspects of human urinary amino acid excretory patterns utilizing paper chromatography
Authors: Kaplan Arnold R. 
Published: July 2016

SUMMARYA method for the preliminary analysis of a maximal number of urinary amino acids has been devised, which is based on preliminary ‘purification’ and desalting of each specimen prior to its subjection to two-dimensional paper chromatography. Aliquots of processed and concentrated specimens are standardized to quantities of alpha-amino acid nitrogen as determined colorimetrically.Densitometric index values were analyzed for sex differences and for intrapair differences comparing genetically related and unrelated pairs. Significant sex differences were observed for five substances. Significant deviations between intrapair differences of genetically-related and control pairs were observed for ten substances. The results are compatible with the hypothesis that quantitative differences in the respective excretions involve genetic factors.
Problemi di Genetica Oculistica: IV. Ptosi con blefarofimosi congenita ereditaria
Authors: Gedda Luigi , Bérard-Magistretti Sandra 
Published: July 2016

SUMMARYThe Authors report on 10 subjects of the same family affected by a malformation of the ocular region, which may be classified in the group of the ptoses with blepharophimosis. These symptoms, always present, were variably accompanied by other malformations (dislocatio lateroversa canthi medialis, duplicity of the lower lacrimal points, « elongatio » of the lower canaliculi, limitation of the superior recti, synophrys, hypoplasia of the iris, of the caruncle, of the plica semilunaris and of the tarsus). The existence of a hereditary congenital malformation, which may be called «ptosis with blepharophimosis », is confirmed. In the cases reported this is probably transmitted by a dominance trait.
The Co-Brother Method in Clinical Genetics: Tuberculosis Research
Authors: Gedda Luigi , Volta Sandro 
Published: July 2016

The genetic aspect of tubercular diseases has been studied for a long time, using the genealogical method, which had forerunners even in the field of narrative, where some Authors, such as Emile Zola, described families in which there was a high frequency of tuberculosis. Then, many Authors gave scientific descriptions of genealogical trees largely stricken by this disease, demonstrating the necessity of stating this problem: Although tuberculosis is originated by a microbe, it can also derive from a particularly receptive, inherited ground. The statistical research, in the hands of Person, Govaerts, Pearl, Ickert and Benze, Geissler and others, indicated that the question was legitimate and that the answer must be positive, because the probability of being affected by tuberculosis is four times higher when the parents, instead of being healthy, both have the disease; because among the ascendants of tuberculous people one finds six times more affected individuals than among those of healthy subjects; and for other similar reasons.Then, the twin method, used by v. Verschuer, Diehl and Mittschrich, Kallmann and Reisner, by Heilinger and Kunsch, by Vaccarezza and Dutrey, by Kallmann and Jarvik and by others, emphasized the hereditary factor in tubercular diseases.
Ricerche sulla familiarità del carcinoma ovarico
Authors: Soini A. , Serra A. 
Published: July 2016

SUMMARYThe Autors have begun a genetic research on the ovarian cancer. In this first part of the work:1. it has been defined the group of the “ primary cases ” in which have been included 74 cases of solid carcinoma, 108 cases of cystic carcinoma and 93 cases of unclassified malignant tumor of the ovary.2. it has been studied the age of appearance and the age incidence variation of the ovarian cancer, and it has been found that:a) the mean age of appearance is 51,15 ± 0,64 years, but it lowers to 48,94 ± 0,68 years for the solid carcinoma and rises to 52,36 ± 0,90 years for the cystic carcinoma;b) the period of the greatest frequency of the disease is between 40-60 years of age, followed by a sharp decrease over age 65;3. it has been analysed the fertility of the patients, and it has ben recorded a decrease of the mean fertility up to 29% as compared to the general population;4. it has been mentioned the importance of the hormonal factor as a problable condition for the development of the ovarian cancer, that nevertheless calls for other — likely idiotypic — factors.
Nuove Osservazioni di Torcicollo osseo in Gemelli monozigotici e in Fratelli mononati
Authors: Gedda Luigi , Iannaccone Guido , Alfieri Alfonso 
Published: July 2016

SUMMARYThe Authors describe a pair of male twins, aged 17, with concordant congenital clockwise torticollis, and two single-born sibs, one male aged 15 and one female aged 17, with concordant congenital counter clockwise torticollis. X rays show that in these cases the organic basis of torticollis is the wedgelike deformation of one or two cervical vertebrae. Other bone malformation are observed in the spines of the propositi and in the twins' mother.The Authors describe a pair of male twins, aged 17, with concordant congenital clockwise torticollis, and two single-born sibs, one male aged 15 and one female aged 17, with concordant congenital counter clockwise torticollis. X rays show that in these cases the organic basis of torticollis is the wedgelike deformation of one or two cervical vertebrae.The Authors believe that congenital osseous torticollis is part of a hereditary malformation of the axial skeleton; this malformation may be of two types, one “dysmorphic” (as the cases here described) and one “schisosynostotic” as in the twin case described by Gedda and Iannaccone in 1957.
Das Zwillingsproblem in der Psychiatrie
Authors: Stern Arthur 
Published: July 2016

SUMMARYThe prevalence of psychological tendencies in psychiatry and the scarceness of material in our small country have resulted in a certain neglect of the problem of twin studies (as part of the theory of constitution and genetics). Uni-ovular twins - meaning identical in their heredity, monozygotes - enable us to reach important conclusions regarding the influence of constitution on, and the hereditary character of psychiatric diseases. Apart from observations at birth, uni-ovularity is proved by the method of similarities in physical and psychological Traits, esp. finger-prints, blood groups, and handwritings; recently another proof has been found in the electro-encephalogramm (EEG) which is identical in uni-ovulars. Bi-ovular or non-identical twins (dizygotes) have every mark of siblings, e.g. the statistical percentage concerning the hereditary character of certain illness, which percentage is much smaller than with uni-ovular. The cases of five pars of identical twins are presently recorded: two pairs in detailed observation by the writer, three pairs which have been referred to me by the kindness of several institutions in this country. (It is by chance only that all these pairs are female). Of these five observations, four concordant uni-ovular twins belong to the schizophrenic form, one to the maniac-depressive.The history and literature regarding this trend of studies are referred to at some length, esp. the findings on criminal twins (Johannes Lange et al.) and the exhaustive material of F. J. Kallmann, New York, which latter did observe 953 pairs of schizophrenics, 75 pairs of maniac-depressives, 96 involution psychoses, etc. These studies and those by other authors show a concordance - meaning appearance of the same illness in both twins -of nearly 100% in maniac-depressives, and of up to 86% in schizophrenics. The limited discordance in schizophrenia is dealt with and explained by factors other than environmental - or (as some hold) even psychological influences on the genesis of schizophrenia. The « mother-child complex », meaning the influence of earliest childhood, is unacceptable as a factor in the origin of child schizophrenia.Therefore, observation of twins provides important conclusions on the constitutional or hereditary character of serious psychoses, as well as on criminality, suicide, homo-sexuality, involution psychosis, epilepsy, mongolism, mental debility, and many other problems of psychiatry and the important problem of influences by « nature and nurture », or constitution and environment, on psychic illness. All these make it possible to revise, in the sense of genetic constitution, several opinions held in psychotherapy, psycho-analysis, and psycho-somatics.
Il « metodo clinico-gemellare » nel rilievo del sintomo radiologico della stasi cerebrale e dell'influsso negativo delle cardiopatie sullo sviluppo corporeo (3 coppie MZ cardiopatiche discordanti)
Authors: Gedda Luigi 
Published: July 2016

SUMMARYThe Author reports two MZ twin pairs, one of 11 years old females and one of 18 years old males, only one twin in each pair being affected by severe cardiac failure. In both cases the cranial radiograph of the hyposystolic twin, compared with that of the co-twin, revealed the existence of cereblar stasis.The Author also reports on two female MZ pairs of developmental age, each with one cardiopathic twin. In both cases the affected twin revealed a retarded body development and, in one pair, also retarded puberty.The Author stresses how the twin study method is helpful in clinical as well as genetical research, thus reasserting its validity.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). IV - Ricerche sulla predisposizione genetica alla Tromboendoangioite obliterante
Authors: Serneri G. G. Neri , Bartoli V. 
Published: July 2016

SUMMARYThe Autors analize 25 families with proband affected by thromboangiitis obliterans, 25 families with proband with periferal arteriosclerosis obliterans and 300 families with proband with infectious diseases. The last two groups are as controll.After describing two cases of thromboangiitis obliterans on the families of proband with T. O., the AA. examine the material under the statistical point of view.In the group of families with T. O. they founf on higher incidence statistically signifiant, of rheumatic diseases (rheumatic fever and rheumatoid arthritis) and cerebral apoplexy of early unset (before 55 years of age).The AA. admitt the existence of a genetic predisposition to thromboangiitis obliterans.Such a predisposition probably leads on two genetic factors: one dominant autosomal with reduced penetrance and variable expressivity, witch is responsable of the abnormal mesenchimal reactivity (and for sue a reason, strictly related to the principal factor responsable of the predisposition to rheumatic disease). Tre other, recessive one, is responsable of a state of vascular vulnerability. This last factor is probably the localizing factor of the abnormal responsivity to the vascular mesenchima.The genetic predisposition to rheumatic diseases, in the other way seems to have non genetic relationship to the diathesis of allergic diseases and the diathesis of degenerative connective tissue disorders (mesenchymotic diathesis).
Proposta del Test Gemellare Azigotico
Authors: Gedda Luigi , Brenci Gianni 
Published: July 2016

SUMMARYConsidering the development of the twin method the Authors deem it necessary to review the various systems of analysis presently used. They therefore design a method by which the twin material may be used even when zygosity is unknown. The Authors give this method the name of Azygotic Twin Test (T.G.A.), explain it theoretically and also give a practical example of analysis.The Authors plan to make - new studies on the subject, in order to show further possible developments of this method.
Simultaneous Occurrence of Spherocytosis and Polydactyly in a Brazilian Family
Authors: Roisenberg I. , Palombini B. C. , Petersen Neusa 
Published: July 2016

SUMMARYA description is made of a large Brazilian family of white ancestry in which some individuals presented polydactyly, other spherocytosis, and some both anomalies together. The information obtained involves five generations totaling 117 related members. Seventy eight of them were examined by the authors through clinical and laboratory methods. Both anomalies were found to be inherited by means of autosomic dominant genes; their joint occurrence seems to be casual. No genetic linkage was apparent between the genes which conditioned spherocytosis and those responsible for the ABO, MN and Rh blood group systems.
The Occurrences of Symmetrical and Asymmetrical Papillary Patterns on the Brahmins of Rajasthan
Authors: Kumbnani Harkishin 
Published: July 2016

SUMMARYIt is to assess the occurrence of symmetrical and asymmetrical combinations of papillary patterns on the Brahmins of Rajasthan (both the sexes) that this paper has been attempted. Symmetrical combinations are those patterns which are of the same type on the corresponding digits of Right and Left hands, while the asymmetrical are those which are of different types on the digits of corresponding Right and Left hands. All the Loops whether Ulnar or Radial are put into one category. The actual frequencies (AF) and chance frequencies (CF) of Various combinations are calculated.1. The pattern combination W/W preponderate on I, II, & IV digits in both the sexes, while U/U is more often observed on the III and V digits. The pattern combination A/A is more common in males than in females, moreover this combination is more frequently noticed on II and III digits only.2. Comparing the values of AF/CF ratio for the symmetrical combination of Whorls-Whorls, Loops-Loops and Arches-Arches in Brahmin series it is observed that the combination Loops-Loops exhibit the lowest value, while the Arches-Arches show the highest, indicating thereby that the tendency to symmetrical patterns is highest in Arches, lower in Whorls and lowest in Loops.3. The least AF-CF value in the various asymmetrical combination shows the tendency to the repulsion of the combination. It is observed that this tendency is highest in Whorl-Arch and lowest in Loop-Arch combination.4. A strong tendendy to repulsion on the part of asymmetrical patterns is observed and which consequently increases the tendency more towards the symmetrical patterns.5. The value of AF/CF ratio is inversely proportionate to the value of chance frequency (CF) or in other words the decrease of CF value increases the AF/CF ratio6. It is possible to calculate the chance frequencies (CF) when the percentile frequencies of various patterns are given.
Rara osservazione di un nanismo diencefalo ipofisario in una gemella monozigotica
Authors: Cotellessa Giuseppe 
Published: July 2016

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

SUMMARYDrawing is an excellent means of investigating the personality of identical twins. It gives an overt expression of the difficulty of arriving at the consciouness of the self, so frequently found with these persons. Some of this article's drawings illustrate this fact and show the persistence of duality and confusion.The strength of the tie to the other twin, the wish for indépendance from him, the dominance of one subject in the pair are also made manifest.Furthermore, the existence of some affective reactions toward the family and the frequent opposition between the types of behavior, found in the two members of a same pair toward the auter world, are shown.
Le mécanisme héréditaire de la maladie de Dupuytren
Authors: Pfändler U. 
Published: July 2016

SUMMARYDupuytren's disease recurs more frequently than generally assumed. 24 typical family trees derived from the literature are analyzed here.The main conclusions that can be derived are the following:1) Monogenic heredity is confirmed.2) The sex ratio in the affected families is 61,2 m: 38,8 f.3) The sex ratio in unaffected families is 38 m: 43 f.4) The expressivity of the disease is variable. Penetrance, which is incomplete, varies according to the sex. In our selected material, the penetrance rate is 93,6% in the males and 42,9% in the females.5) Males transmit the gene in 68% of the cases; females in 32%.6) Incomplete sex linkage can be excluded.7) A comparison is made between the really observed values and the theoretical rates for normal and affected men and women for the chance of an auto-somatic dominance. These observations make possible the conclusion that the number of affected females is too low as compared with unaffected females and affected males.8) A new theory is suggested concerning the mechanism of heredity based on the different statistical values. The responsible factor would bedeadlyfor 60% of the XX affected zygotes. But 60% of the affected X gametes produced by the mother, being identified by an essential incompatibility for the unaffected X spermatozoid, would be electively fecundated by a Y gamate. This machanism would explain the excess of affected males, the small proportion of affected females and the sex-ratio of 61,2: 38,8.The concordance between the observed values and the theoretically expected values of such a kind seem to convalidate our new theory.
European Congress of Twins
Authors: Bruins J. W. 
Published: July 2016

On the 21st and 22nd of May 1955 a congress of twins took place in Oirschot (Nederland). The initiative for this remarkable assembly came from the secretary of the local Sportsclub Orion, Mr. Louwers, who himself is a half of a twin. In order to add glamour to the anniversary of this club it was thought to achieve this by inviting twins. This gathering was a great success for over 300 twins from different countries took possession for several days of this quiet town in Brabant, The original intention was to offer a programme of social activities including excursions, musical evenings, competitions and dancing. The international Press had given a great deal of publicity to this Congress whiel from a cultural point of view was successful.The total number of twins which took part was 327 (654 persons). The countries which were represented were as follows:Holland, 229, Germany 61, Belgium 21, Saarland 4, Austria 4, France 2, Sweden 2, Switzerland 2, Finland 1, Italy 1. The average age of the participants was 29,1 years, the oldest being 82 and the youngest 15. Total number were 167 girls and 155 boys. The number of mixed twins was small (38) so that there as a rather strong tendency towards twins of the same sex. Similarly there was also a tendency for identical twins but this was not certain because not all the twins of the same sex could be actually identified by anthropological methods. After examination it was almost certain that 80 were one-egg twins but most probably there were more. This has strenghtened our opinion that also in the public eye only those twins are considered genuine which are physically and mentally the same. Since 375 twins had unselectively taken part, in the congress, it would have been expected that at least a 100 would have been mixed twins, in fact there were only 38.