bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mendelian Genetics Today
Authors: Mainx F. 
Published: July 2016

The purpose of this first “Round-table Conference” could well be to present the historical development of human genetics from the early days of Mendelism to the elaboration of modern genetic research. The refinement of methodological possibilities and the unfolding of problems indicate to us the proper lines for further study. With this introduction I should like to restrict myself to a few remarks concerning the role of the gene analytical system of Gregor Mendel in human genetics. If as a result of corrent research the concept of the gene has undergone important alterations and is no longer the closed unit of the classical formulation, it still remains a useful concept for practical research. Every investigation of a genetically active factor immediately begins with the determination of a segregating unit or a mutating unit. Determining an allele relationship or a series of multiple alleles will remain the principal result. Quite often in human genetics it has not been possible to demonstrate these relationships as pseudoallelal or with other methods to achieve a differentiation of the gene concept into its subunits: the cistron, recon and muton. So far the objectives of human genetics the employment of the gene concept as classically formulated is methodologically necessary.The ideal goal of the gene analytical method is to determine the function of all genes which take part in the heredity of an organism, the preparation of theoretical chromosome maps for the various linkage groups, the determination of the relationships between the genes and their alleles to visible or measurable characteristics of the organism, and the establishment of relationships between phenotypic expression and dominance or epistasis. Its further area of interest is in the genetic analysis of natural populations, the question of spontaneous mutability, the problem of genetic diversity and the polymorphism caused by it in populations, and the equilibrium between all alleles. These questions lead necessarily to general problems of population dynamics, adaptation and evolution.
Sindromi da Eredità Molecolare
Authors: De Toni G. 
Published: July 2016

La limitazione del tempo messo a mia disposizione, mi impedisce di illustrare le varie tappe della genetica, intesa come scienza morfologico-descrittiva. Dallo studio delle cellule germinali siamo passati via via a quello dei cromosomi, dei geni, dei loci. A sua volta il gene è stato suddiviso in varie unità indipendenti (muton, recon, cistron). Ma un importante passo avanti è stato compiuto soltanto quando lo studio è stato affrontato dai biochimici, i quali hanno dimostrato che le variazioni strutturali della complessa molecola dell'acido desossiribonucleico (D.N.A.) bastano a spiegare l'enorme molteplicità dei geni, e le loro possibili mutazioni.Grazie alle scoperte della biochimica noi siamo così passati dallo studio dell'eredità cromosomica e genica a quello dell'eredità molecolare.Bisogna riconoscere che, in questo campo, i clinici hanno precorso i genetisti ed i biochimici. Spetta infatti al medico inglese Archibald Garrod (1902) il grande merito di avere per primo espresso il concetto che una malattia ereditaria può dipendere da una turba metabolica dipendente da un errore nella sintesi di una molecola proteica. Egli partì dall'esempio della alcaptonuria, alla quale malattia altre ne aggiunse, riunendole nel gruppo degli «inborn errors of metabolism». Questo concetto è stato in seguito allargato, ed anzi alcuni genetisti (Pauling) sostengono che tutte le malattie ereditarie sono dovute a formazione di molecole anormali. Altri autori invece restringono il concetto alle sole malattie nelle quali sono state effettivamente dimostrate mutazioni nella struttura molecolare (come per es. le emoglobinopatie). Io ritengo che convenga scartare sia la defmizione troppo allargata che quella troppo ristretta e di ritenerci autorizzati a parlare di «sindromi molecolari» quando noi ci troviamo di fronte ad una malattia in cui si possa dimostrare o per lo meno presumere che l'alterazione caratteristica risieda a livello di una singola o di più molecole.
Zur Populationsgenetik der Haptoglobinserum-Gruppen Allelenhäufigkeit in Europa und Ozeanien
Authors: Baitsch H. , Liebrich K. G. , Pinkerton F. J. , Mermod L. E. 
Published: July 2016

In der Populationsgenetik gibt es zwei wichtige grundsätzliche Fragestellungen:1. Zeigt ein bestimmtes genetisch determiniertes Merkmal Häufigkeitsunterschiede bei verschiedenen Populationen?2. Wie sind diese Häufigkeitsunterschiede zu erklären?Die Beantwortung der ersten Frage erfordert, dass man von möglichst vielen Populationen in möglichst vielen Stichproben die Merkmalshäufigkeiten untersucht und Verteilungsparameter schätzt, urn etwaige Unterschiede prüfen zu können. Um derartige Untersuchungen an sehr vielen Stichproben und sehr vielen Personen vornehmen zu können, benötigt man ökonomische und zuverlässige Routinemethoden zur Bestimmung des betreffenden Merkmals. Die zweite Frage kann dann bearbeitet werden, wenn genügend Information über die Häufigkeitsunterschiede bei verschiedenen Populationen vorliegt. Wie sich erwiesen hat, ist diese Frage nach den Ursachen von Häufigkeitsunterschieden oft nur sehr schwer zu beantworten.Für die routinemässige Bestimmung der Haptoglobinserum-Gruppen haben wir die Methode der Stärkegelelektrophorese, wie sie von Smithies angegeben wurde, so weiterentwickelt, dass ohne grosse Mühe sehr viele Bestimmungen durchgeführt werden können. Wir haben diese Technik ausführlich publiziert; mit dieser Technik haben wir schon weit mehr als 30.000 Bestimmungen der Haptoglobinserum-Gruppen durchgeführt.Zur Zeit bearbeiten wir vor allem die erste Fragestellung: Welche Häufigkeiten zeigen die Phänotypen der Haptoglobinserum-Gruppen und der ihnen zugrunde gelegten Allele Hp1 und Hp2 bei den verschiedenen Populationen?Untersuchungen wurden von uns hierzu durchgeführt an Blutspendern aus Bayern, Baden-Württemberg, Nordrhein-Westfalen, Berlin, an Patienten aus verschiedenen Kliniken in Westdeutschland; dann haben wir zusammen mit Herrn Dr. Paidoussis Serumproben von Blutspendern aus Athen / Griechenland untersucht; des weiteren Blutspender aus Ljubljana / Jugoslavien (zusammen mit Frau Dr. Sovdat-Banic), aus Prag / Tschechoslowakei (zusammen mit Herrn Dr. Kout) sowie an einer grösseren Zahl von Blutspendern aus Hawaii (zusammen mit den Herren Dr. Pinkerton und Mermod von der Blutbank von Honolulu).
The Hybrid Specialty of Psychiatric Genetics
Authors: Kallmann Franz J. 
Published: July 2016

No matter what our everyday activity in the mental health field, we can say with conviction that the function of a new superspecialty such as Psychiatric Genetics, the subject of this late-morning session, is profoundly influenced by contemporary cultural, social and political conditions as well as by the never-ending challenge of scientific conquests. Evidently, therefore, any attempt to formulate a concise and generally acceptable definition of such a modern hybrid discipline is no less difficult than it is to work in it. Actually, since the two parental sciences deal with equally absorbing, intricate and still rather speculative aspects of human existence and health, it would make little difference here if the given definition were developed within the framework of psychiatry or that of human genetics. What is certain only is the empirical observation that there are very few workers in this particular field of superspecialization, who are not prematurely grey or otherwise debilitated.In order to facilitate a fruitful discussion despite these considerable difficulties, it may be advisable to use a description of psychiatry and its various schools of psychotherapy, which is plain in its formulation and is focused on appropriate medical concepts and techniques from a professional standpoint. This selective procedure is justified, since in many recent conferences on the functions of clinical psychiatry, increasing emphasis has been placed on two general professional requirements. One of them is that psychiatry should never be “a field apart from other areas of scientific discourse”. The other criterion is that a psychiatrist be “a good physician first and always… capable of acting as the trustworthy friend, the wise counsellor, and the discreet and skillful servant” of people in distress.
A human mosaic involving eye and hair color differences
Authors: Ahuja Y. R. 
Published: July 2016

SummaryAn individual mosaic for eye and hair color is described. Possibly the subject is heterozygous at a single locus with pleiotropic effects on both hair and eye color. It is proposed that a genetic change, most probably a point mutation, occurred in a prospective melanoblast during early development. Migration of the derivatives of this cell from the neural crest into the affected regions would account for the light-colored hair and eye. It is not likely that the present mosaic condition will be transmitted because it is most probably a case of somatic mosaicism.
Osservazioni su una coppia di fratelli mononati, affetti da epidermolisi bollosa semplice e da poliomielite anteriore acuta
Authors: Gionta D. , Marioni R. 
Published: July 2016

SUMMARYThe authors have described two brothers, both affected by epidermolysis bullosa, struck at the same time by poliomyelitis anterior acuta having identical paralytic manifestations concerning the lower limbs and an almost reversed asymmetrical affection concerning the muscular groups of the upper limbs. Owing to the presence of a congenital desease, the Authors have considered the existence in the above mentioned brothers of a particular predisposition also for poliomyelitic infection.
Xeroderma pigmentosum
Authors: Dorn Harry 
Published: July 2016

SUMMARYFollowing some observations on the pathogenesis and clinical manifestations of « Xeroderma Pigmentosum «, two histologically ascertained cases are reported, as studied in the dermosyphilopathic Clinic of Berlin's Free University.In the first case it was possible to prove parental consanguinity, already mentioned by Siemens as proof of irregular recessive inheritance. In the second case the lack of sufficient familial information suggests a non-genetic origin. In both cases it was possible to rol out venereal disease as the causin factor, and the disease appeared only after the third year of age, at 10 years in one case, with onset at the cornea. In the latter case the EEG reveals variations indicating the existence of organic brain disturbances which (associated with the ocular alterations) suggests the occurence of a neuroectodermosis.In any case it would be wise to warn Xeroderma patients that in the case of consanguineous marriage, there is the danger of the recessive disease (latent in both parents) becoming real; otherwise the physician may, after such a marriage, support the possible request for sterilization on the part of the patient.
Contributo allo studio dell'ereditarietà della S. di Marfan. Descrizione di un albero genealogico di quattro generazioni con un matrimonio fra consanguinei affetti
Authors: Capotorti L. , De Benedetti R. Gaddini , Rizzo P. 
Published: July 2016

SUMMARYThe AA. have studied the pedigree of a family with Marfan's Syndrome (M.S.) including 90 persons of four generations. 37 subjects were examined both from a general and from an ophcalmological point of view. Furthermore reliable informations have been obtained about 13 more subjects related with them. Out of the total of 50 persons about whom the A A. have gathered sufficient evidence, 22 turned out to be affected by « ectopia lentis », 20 by various skeletal malformations, all of them included in the general picture of M.S. In 5 more cases some signs of cardiac involvement have been found. The percentage of affected subjects in the whole family was 40%, whereas the hereditary transmission of this syndrome appeared to be typical of a presumably single autosomal dominant character.This is the first report in the literature of a consanguineous marriage between two subjects both affected by M.S. Out of 9 children who were born from this couple, 4 presented the M.S. (2 of them in a particularly severe form), 3 died during infancy, one was a stillborn and only one was a healthy individual.The number of cases of this syndrome described in the medical literature is in continuous increase. Furthermore the growing prominence it is assuming in general medicine, owing to the skeletal, cardiac and vascular anomalies, stimulates to a more thorough knowledge of its hereditary transmission, in the hope of achieving a useful social prophylaxis.
Il Torus palatino: carattere genico
Authors: Hertel A. 
Published: July 2016

SUMMARYA survey of the existing literature on the subject reveals that this anatomical variation has been even recently considered as morbid form. All the known information, however incomplete, concerning the shape, frequency, distribution according to sex and age, time of onset and development of the formation, is reported.Little is known concerning the etiology of this hypertrophy: it has appeared as linked with race groups (Eskimo, American Indians, Mongols) and with family groups.This appears to be substantiated by the observations — herein reported — made on 12 twin pairs, of which 9 are MZ and 3 are DZ. All nine MZ pairs are concordant as to torus; one of the three DZ pairs is already discordant.As the concordance of MZ twins for a single trait generally indicates that it is inherited, we can consider tours palatinus as a morphological variation of a hereditary genie trait peculiar of some race — and family — groups.
Etude psychodiagnostique d'un nouveau groupe de triplets
Authors: Schachter M. , Cotte M. Ile S. 
Published: July 2016

SUMMARYThe Authors report detailed observations on a set of triplets analyzed by means of the Rorschach test as well as by Buck's drawing test. The findings prove the importance of this research in pointing out — with more detail than by current clinical methods — the original traits of the mind of each individual in this set of triplets.
La Sindrome di Marfan
Authors: Betetto G. 
Published: July 2016

SUMMARYThe Author reports ten cases of affections similar to Marfan's Syndrome and, on the basis of the already rich bibliography, divides them into two groups:1) cases 4, 5, 6 and 7 appear to suffer from Marfan's Syndrome with all its characters;2) cases 1, 2, 3, 8, 9 and 10 seem to suffer from another affection, similar but identifiable through some factors such as the different anatomical substratum, possibly the etiopathogenic cause and, mostly, the lack of heredity.The Author therefore advocates further careful studies of all the factors present in the ascertained cases of Marfan's Syndrome, and the separation of other cases that, much as they may be similar, differ in one or more factors of which heredity is the most significant.
Considerazioni su un caso di due Gemelle Monozigotiche affette da Anemia Drepanocitica
Authors: Perosa L. , Ramunni M. , Manganelli G. , Bini L. 
Published: July 2016

SUMMARYThe Authors describe the case of homozygous twins affected by sickle-cell anemia. The patients were physically similar and showed identical haematological findings. One of them had suffered often of severe sicklemic crisis during one of these appeared also a noticeable neurological complication.Therefore the Authors discuss the pathogenesys of sickle-cell anemia according to the modern views.
La Convergenza Fusionale come criterio di identificazione biologica del Gemello Guida
Authors: Gedda Luigi , Bérard-Magistretti Sandra 
Published: July 2016

SUMMARYThe Authors have studied 87 pairs of MZ-twins, determining for each individual the values of both Fusional Convergence (FC) and Simultaneous Macular Perception (SMP) by means of the major amblyoscope. They have found a high degree of discordance in the FC, corresponding to 80,5 per cent, while the SMP showed a lower degree of discordance (17,2 per cent.). The Authors have observed that the highest values of FC mostly belong to the “leader twin”; they make the hypothesis that the unusual discordance of the FG in the MZ-twins depends on a higher level of will in the “leader twin”, thus representing a test of psychological discrimination between MZ-twins.
«Non malattie, ma famiglie di ammalati»
Authors: Gedda Luigi 
Published: July 2016

SUMMARYThe prolusion held by Prof. Gedda at the beginning of his Course of Medical Genetics at the Rome University is reported. Il deals with the question, what contribution may be brought by Medical Genetics to the culture and education of medical students.As a first contribution, the introduction and the development of a very concrete and constant criterion of evaluation is considered, namely, the study of the family from which the patient derives, that very often leads to the first hospitalization of the patient himself.Hereditary diseases, as well as the receiptivity to acquired diseases, reveal such a marked family imprint as to induce the geneticist to paraphrase the old slogan « there are no diseases but diseased persons » into the new one « there are no diseases but families of diseased persons ».The study of the family, which is so important for both Medical Genetics and the physician, represents also a useful corrective for the tendency in modern medicine to fractionate excessively the medical care. The study of twins is a special case of the study of the family, which acquires a methodological importance.Secondarily, Medical Genetics, being introduced as a subject of teaching in the last year of the program of studies in the Rome University, represents a useful recapitulation of the studies accomplished in the preceding years. In such a way, these may be advantageously synthetized and considered in the unitary and practical light of the individual heredity.
Lo studio del torace dei gemelli con la stratigrafia assiale
Authors: Gedda L. , Bresadola R. , Volta S. 
Published: July 2016

SUMMARYThe Authors have studied radiographically the thorax of 11 pairs of uniovular twins and of 16 pairs of binovular twins. They have performed and analyzed the standard radiographics of the thorax as well as four transverse laminagrams. The results show a greater concordance of the cardio-vascular shadow and that of the pulmonary hili in the uniovular twins. This concordance is more marked and demonstrative in the transverse laminagrams than in the standard radiography. The Authors think that this finding is due to a lower incidence of the functional variants in transverse laminagrams. Moreover, they have given the name of lingua pectoralis to a peculiar radiographic image of the anterior mediastinus.
Gemellité et situs inversus viscerum chez l'embryon de truite
Authors: Lutz H. , Chambroux S. , Lutz-Ostertag Y. 
Published: July 2016

RESUMÉL'étude d'un certain nombre de monstres doubles est faite en vue de l'examen du situs viscerum. Très souvent le composant droit présente un situs inversus viscerum alors que la disposition des viscères est normale pour le composant gauche.Quelle est l'origine du situs inversus viscerum dans la monstruosité double?Se référant aux travaux de Spemann et Falkenberg (1919), de Mangold, Testa et Woellwarth (1956), de Takaya (1951-1955) sur l'œuf de Triton et à leurs travaux personnels sur l'œuf d'Oiseau, les auteurs pensent qu'il y a lieu de distinguer deux stades essentiels dans la formation de l'endoblaste: à un premier stade, l'endoblaste, coupé ou fissuré, est capable de régulation complète; le tractus digestif est normal.A un stade, plus avancé, une certaine détermination existe déjà; elle est pourtant encore labile car la régulation peut encore s'effectuer — mais les parties droites du tractus digestif montrent une prépondérance dans le développement.
On the inheritance and development of preaxial and postaxial types of polydactylism
Authors: Sobbota Anatole , De Marinis F. 
Published: July 2016

SUMMARYTwo types of Polydactyly are described. Preaxial polydactylism is a relatively rare trait, involving a varying degree of duplication of the thumb. X-ray evidence is presented for this condition in a baby girl when first born and 5½ months later, showing the nature of its development. X-ray of the parents revealed that the mother was affected and the father was normal. Evidence points to the possibility that this trait follows a simple autosomaly type of inheritance. Postaxial polydactyly, the more common type, generally involves a duplication of the little finger (5th) with a varying degree of expression. A pedigree of a Negro family is described and X-ray evidence for this trait is given. Each duplicated miniature finger consists of two small but well formed phalanges. The trait seems to be transmitted as an incomplete dominant.
Limitations in the Accuracy of Estimates of Blood Group Gene Frequencies
Authors: Wiener Alexander S. 
Published: July 2016

Summary and Conclusions1. For reporting results of calculations of blood group frequencies no more significant figures should be used than are justified by the size of the series tested.2. Technical and clerical mistakes have been responsible for gross discrepancies in reports on blood group distribution published in the literature, which qualified investigators can recognize by mere inspection of the data.3. Maximum likelihood calculations are complex and laborious and require a mastery of mathematics which few workers possess. Even in the hands of experts gross errors have resulted when carrying out the laborious computations, so that such calculations are not only expensive but impracticable and dangerous.4. The application of maximum likelihood calculations by Boyd to two series of individuals tested for the M-N-S types has yielded estimates of gene frequencies differing only in the third decimal place from the values obtained by the author with the aid of simple square root formulae. When one considers, even disregarding the possibility of technical and clerical errors, that the sizes of these two series justified the use of only two significant figures, it is evident that the maximum likelihood method contributed only a dubious increase in „ accuracy ”. Therefore, such calculations consume misdirected energy and place emphasis on superficialities while disregarding more important factors which can affect the accuracy of the data.5. Many investigators when studying the distribution of the blood groups make the tacit but incorrect assumption that the population is undergoing random mating and is therefore homogeneous. This appears to be one basis for the recent series of fallacious reports on the supposed relationship between the blood groups and various diseases.6. Confusion in the blood grouping field is due to the fact that most of the articles and books which are published have been written by individuals who have only superficial knowledge and understanding of the subject. The widespread use of the incorrect G-D-E notations reflects the lack of mastery of Rh-Hr serology shared by these workers.7. It is significant that the same workers who are enthusiastic for maximum likelihood calculations also endorse the pointless studies on blood group distribution in disease, and the use of the superficially attractive but fallacious C-D-E notations.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). II - Ricerche sui fattori ereditari del reumatismo cronico primario
Authors: Serneri G. G. Neri , Bartoli di V. 
Published: July 2016

SUMMARYThis study is based on pedigrees of 192 patients with rheumatoid arthritis which are compared with pedigrees of 300 controls.6,3 per cent of all relatives in the first group had rheumatoid arthritis compared to 0,38 per cent of all relatives in the control group. An hereditary predisposition to rheumatoid arthritis 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 diathesis of degenerative connective tissue disorders (mesenchymotic diathesis).