bluuebunny/crossref_metadata_2025_split huggingface dataset:
Blood groups in twin studies. Calculation of the probability of monozygosis
Authors: Nijenhuis L. E. 
Published: July 2016

SummaryWhen calculating the chance of monozygosis from the results of a blood group study in a twin-family, it is desirable to use the complete information that is presented by these results and not only part of it.A calculation-method in which the complete genetic-information is used is presented.The use of the formulas is demonstrated by calculating the probability of monozygosis in two examples.
Viral Etiology of Leukemias
Authors: Torrioli M. , G. Torrioli-Riggio  , Braconi-Romei L. , Torrioli E. , Merlini D. , Russo M. , Conforti A. 
Published: July 2016

SummaryThe injection of human leukemic blood in chicken embryos before incubation determines a characteristic reticuloendotheliosis, which may be transmitted from embryo to embryo and even to the adult fowl. The viral agent responsible for this reticuloendotheliosis is filtrable and inactivated by heat. Intradermal injection of affected-embryo homogenates in leukemic patients determines a local allergic reaction. Electron microscopy has shown the existence of virus-like particles in the cells of inoculated embryos.
Natural Selection and Heredity
Authors: Boyd William C. 
Published: July 2016

The intimate connection between natural selection and heredity is indicated by Prof. Dobshansky's definition of evolution as essentially just a change in gene frequencies, for natural selection is the agency that causes gene frequencies to change. Just as mutations are the raw material of evolution, selection is the force that preserves good genes, eliminates bad genes, and produces the changes that lead to the formation of races, and eventually species.The problem of the action of selection on gene frequencies can be treated, with suitable simplifying assumptions, mathematically, and many years ago Prof. J. B. S. Haldane published a series of papers on this subject (tab. I). The rate at which gene frequencies would change under the action of slow selection is shown in fig. 1. It will be seen that selection acts more slowly, at first, on recessive genes than on dominants, but in the long run the frequencies change from nearly zero to nearly one, or vice versa. Deleterious genes are often never completely eliminated, because they are continually recruited by recurring mutations.That selection is effective in bringing about considerable changes in organisms is shown by the achievements of domestic plant and animal breeders. The results of selecting for long shanks in chickens are shown in fig. 2, and for a larger number of abdominal chaetae in fruit flies in fig. 3. Though it is not shown here, selection for a lower number of chaetae is also effective.
The M Quadruplets II. The Interpretation of Quantitative Differences
Authors: Allen Gordon 
Published: July 2016

SummaryEarly students of the M quadruplets considered that the dermatoglyphic traits and physical measurements corroborated a monozygotic origin. More careful analysis in terms of variance shows that the ridge counts, at least, are quite inconsistent with data from monozygotic twins. However, when several quantitative measures are considered together by a method of combined relative likelihoods of separate pair differences, the evidence against monozygosity is less impressive than the contrary evidence from qualitative traits including blood groups. It is concluded that quadruplets tend to vary more than twins and/or that some genotypes are much more variable than others, at least with respect to dermal ridge counts.
L'importance de la génétique humaine en médecine
Authors: Klein D. 
Published: July 2016

Après le discours d'introduction du Prof. Robert Montant, Doyen de la Faculté de Médecine, le Prof. Klein remercia les autorités et présenta ses hommages au Recteur, au Collège des Professeurs, en particulier à son maître, le Prof. A. Franceschctti. Il s'adressa ensuite aux étudiants et à l'auditoire en ces termes:Messieurs les Etudiants,Quelques-uns d'entre vous se demanderont peut-être où réside la nécessité d'introduire dans le programme clinique déjà si chargé une nouvelle spécialité, la génétique humaine, d'autant plus qu'elle a déjà la réputation d'être une science théorique pure et dépourvue d'intérêt thérapeutique.Laissez-moi vous dire que la génétique humaine n'est pas une spécialité sui generis dans le même sens que les autres branches de la médecine. En effet, dans la hiérarchie des sciences médicales elle joue en quelque sorte « l'officier de liaison » dégageant de chaque discipline les données héréditaires et rassemblant ces éléments pour en faire une synthèse. Le généticien est donc plutôt un spécialiste malgré lui puisqu'il doit former un tout homogène des résultats si vastes et si divers obtenus dans les divers domaines des sciences biologiques et médicales. Pascal, sans le savoir, a très bien caractérisé la situation du généticien qui doit conserver une curiosité générale et tirer son matériel de toutes les sciences de la vie, lorsqu'il dit: « Puisqu'on ne peut être universel en sachant tout ce qui peut se savoir sur tout, il faut savoir peu de tout. Car il est bien plus beau de savoir quelque chose de tout que de savoir tout d'une chose ».
The M quadruplets: I. Probability of uniovular origin judged from qualitative traits
Authors: Allen Gordon 
Published: July 2016

SummaryThe M quadruplets have been regarded as monozygotic by all investigators who have studied them carefully. Previous authors have based their diagnosis on the description of the placenta, on early physical resemblances, and on qualitative features.The addition of blood group tests to the criteria now tends to confirm the earlier conclusion. From an extension of methods devised for use in twins, it appears that the probability that these quadruplets originated from more than one zygote is less than one per cent. However, some quantitative differences, especially in finger prints, require a more elaborate analysis, and such an analysis will be presented and discussed in a second article.
Problemi di Genetica Oculistica: II. Oftalmoplegia dei m. m. retti esterni bilaterale e concordante in gemelli MZ
Authors: Gedda Luigi , Bérard-Magistretti Sandra 
Published: July 2016

SUMMARYThe observation of twin-brothers of 4 years affected by congenital squint caused by ophthalmoplegia of Musculi recti externi, probably nuclear in origin, is described. This is the second report on concordant ophthalmoplegia in MZ twins.
Probability of Paternity in Rh Blood Groups
Authors: Okajima Michio 
Published: July 2016

SUMMARYA method of calculating the probability of paternity, based upon Bayes' theorem, for Rh blood groups has been developed. Tables have been prepared for calculation of the probability of paternity for the most common levels of testing, i.e., with five anti-sera (anti-C, -D, -E, -c, -e), with four (anti-C, -D, -E, -c) and with three (anti-C, -D, -E). The same probabilities at other levels of testing can be calculated by applying the method and tables presented in this paper. Since the tables presented herein include calculations for chromosomes which appear to occur but rarely as far as known to date, these tables can be applied to all populations with different chromosome frequencies.The author wishes to thank Prof. S. Ueno, University of Tokyo, and Prof. Y. Komatu, Tokyo Institute of Technology, for helpful advices which they have given in the present study.
Über die Vererbung der Fingerlängenproportion
Authors: Rösler Hans-Dieter 
Published: July 2016

SUMMARYThe evaluation of the sketches of the hands of 746 consanguineous persons of different ages and sexes as well as the examinations of 120 radiograms of the hands of non-related adults have shown the following results:1) Relatives (Brothers and sisters, mothers and children, parents and children) resemble each other with regard to the respective finger-lengths and the proportions of these between right and left hand more than non-relatives do.2) The respective finger-length is organized anatomically by the longitudinal variations of all elements of the second and forth rays and modified by the Carpalia and the longitudinal proportion of Radius and Ulna. We can regard the most extensive variations of growth at the second ray in men and at the forth ray in women. In the same manner the lateral differences between the right and the left hand can be explained for both sexes mainly by the longitudinal differences of the second rays.3) In reference to these anatomical conditions a genetical hypothesis about a transmission of the relative finger-length is developped and its usefulnes for the diagnosis of paternity comes to discussion.
Contributo allo studio della Sindrome di Franceschetti Rilievi clinici e genetici da una osservazione familiare
Authors: Zunin Carlo 
Published: July 2016

SUMMARYThe Author sets out his standpoint on the value concerning the « forme fruste » of syndromes of multiple malformations expecially of those which have hereditary nature. He remembers the four types of « mandibulo - facial dysostosis ». The Author describes a family in which the different members were affected by this illness in incomplete form. In the last generation by two parents having the « forma frusta », two children were born, affected by a complete Mandibulo - facial Dysostosis both after having lived two or three months. After a close examination of medical literature referring the familiar forms, man examine all the genetical eventuality concerning the examined family. Man can reach to a conclusion that the appearence of two brothers with a complete forme, precociously dead, is quite surely imputable to « homozygotism » and consequently to double close of « pathological genes ».
L'hérédo-dystrophie mouchetée du parenchyme cornéen
Authors: François J. , Neetens A. 
Published: July 2016

SUMMARYThe authors describe a new hereditary dystrophy of the cornea, the specked heredo-dystrophy of the corneal parenchyma. In the corneal stroma of both eyes speckles can be easily distinguished; they are more or less numerous and can be found in all the layers of the parenchyma, as well in the center as at the periphery. Dimension, shape and density of the speckles are very variable: they are oval, round or festooned; some of them are opaque at the borders; others show a more diffuse trouble; others are dotted; their borders are well-cut, regular or indented. In optical section the opacities are thin and flat. This dystrophy is not evolutive and is transmitted as an autosomal regular dominant trait. One member of the affected family shows a cloudy central dystrophy of the corneal stroma, so that it is possible that there exists a relationship between these two affections.
Endogenous factors in poliomyelitis acuta anterior
Authors: Witkop-Oosténryk G. A. 
Published: July 2016

SummaryThe object of this study was to ascertain if endogenous factors might play a part in the appearance of paralysis with acuta anterior poliomyelitis.The investigation concerned 754 patients in Groningen and Drenthe (provinces of the Netherlands), affected by the disease during the years 1936-1951. First of all it appeared that the consanguinity percentage of the parents of the probandi was much higher than that of the average population the difference being significant (χ2 = 22,28; P: 〈0.001). Secondly we compared the number of connections of a group of 137 patients with a group of 591 patients and the number of connections of a control group of 137 persons with the group of 591 patients. As ignificant difference appeared to exist between the numbers observed. The third part of the research concerned the appearence of diseases with patients' relatives and the comparison of those with the diseases with relatives of a control group. Between the group of patients and relatives and the group of control cases and relatives a difference appeared to exist in this sense that in each case the group first-mentioned showed a “surplus” of diseases in comparision with the control group; the burdening of the poliomyelitis-group with these diseases showed a significant difference from that of the control group. Also in this case the comparison of several separate diseases showed significant differences. However this was not the case with all the diseases. Attention was paid to the twins who occurred in the group of 754 patients. The small number of twins, however, did not allow of any conclusion whatsoever.Finally the conclusion has been drawn, that endogenous factors exercise influence in the origin of paralysis with acute anterior poliomyelitis. The results of this investigation render it probable that we have to deal with a non-specific factor, viz. a greater vulnerability of the central nervous system for diverse diseases of which the increased susceptibility of the paralytic form of acute anterior poliomyelitis forms a part.This factor is inherited in a recessive way.
Tests for Partial Sex-linkage in Total Color-blindness
Authors: Tanaka Katumi 
Published: July 2016

SummaryData on congenital total color-blindness were collected from the Japanese literature and through private communication, and tested for partial sex-linkage. Twenty sibships derived from consanguineous marriages, in which mode of relationship of the parents was fully known, were analyzed by using the direct method, and the crossover values 37.9-39.0% were found. Remaining 26 complete sibships were analyzed by using the indirect method, and a crossover value of 23.7% was obtained.The higher recombination value derived from the direct method may possibly due to inaccurate information about paternal genotypes.
A Pair of Male Fraternal Twins with Contrasting Manifestations of Rh Hemolytic Disease
Authors: Wiener Alexander S. , Wexler Irving B. , Schutta Edward J. 
Published: July 2016

SUMMARYA pair of male, Negro, fraternal twins are described, both of whom were affected with Rh hemolytic disease. In one twin, the manifestations were typical; jaundice appeared early, exchange transfusion was carried out, and this was followed by prompt and complete recovery. In the second twin, who was treated expectantly, jaundice appeared later and followed the protracted course of the so-called «inspissated bile» syndrome, i. e., the stools were acholic, there was bile in the urine, and most of the serum bilirubin was of the direct reacting type. Of interest was the finding that the occurrence of the syndrome was presaged by the presence of excessive amounts of direct reacting bilirubin in the cord serum. This twin also recovered completely, but convalescence was more prolonged.The observations on these twins provide further evidence that the constitution of the baby, in addition to the maternal Rh antibody titer determine the nature and severity of the manifestations in an erythroblastotic baby.
The Inheritance of Accessory Triradii on Palmar Interdigital Areas II and IV
Authors: Bansal Pushpa , Rife David C. 
Published: July 2016

SUMMARYData obtained from 53 Panjabi Khatris families were tested for mode of inheritance of patterns on palmar interdigital area II. Gene frequencies were obtained from 1,000 unselected Panjabi Khatris.Analysis of the data indicate that a single dominant gene, with approximately 88% penetrance, is responsible for D patterns in both the second and fourth interdigital areas of the palm.
Sport bei zwillingen
Authors: Grebe Hans 
Published: July 2016

SUMMARYReport of the results of an examination on 34 pairs of same sex twins with special activity in sport. 21 pairs were identical (EZ), 13 non identical (ZZ). While from the 13 identical pairs (EZ) 12 were quite of the same sporting activity as even the same performance (complete concordance, K) and only one pair showed some difference in the favoured kind of sports as in the capacity (KD). From the 13 non identical pairs (ZZ) only 7 were of complete concordance (K). 4 (2 male, 2 female) of the 6 non identical pairs (ZZ) with discordances showed clearer differences in their sporting performance or in the favoured branch of sport (KD). From the last two pairs (1 male, 1 female) only one of the twins was respectively famous in sport (even one German champion!), the other thereover of a complete sporting inactivity.The distinct differences in concordance and discordance at the examined EZ and ZZ prove, that the genotypus is of undeniable importance for sporting interest and activity as for sporting performance.In order to confirm or to refute the produced results it seems to be necessary to examine more extended series of non selected twins.
Microcornée associée à une hydrophtalmie et à d'autres anomalies héréditaires
Authors: François Jules , Neetens Adolphe 
Published: July 2016

SUMMARYIn a patient the authors observed the following association of anomalies: bilateral hydrophthalmos with microcornea pseudo-plana, a thick-set somatic pattern, a small lower yaw, arterial hypertension, diabetes, disseminated intracranial calcifications, electro-encephalographic disturbances and neurological pseudo-extrapyramidal lesion.His brother shows the following association of anomalies: unilateral hydraphthalmos, a thick-set somatic pattern, a small lower jaw, arterial hypertension, diabetes, digitiform impressions on the RX of the skull and neurological pseudo-extrapyramidal lesions.The mother and grandmother of these two patients both showed a trembling of head and limbs, even as diabetes; by this means a dominant and polyphenic hereditary transmission must be accepted.
Considerazioni sui processi di adattamento all'ambiente
Authors: Caranti Elio 
Published: July 2016

1. Il problema dell'influenza che le condizioni ambientali esercitano sugli esseri viventi è sempre attuale — e non soltanto in biologia — come dimostra la continua apparizione di opere dedicate all'argomento.In campo biologico tali studi si sono rivolti particolarmente al tema dell'adattamento funzionale, con risultati di innegabile portata. Non altrettanto soddisfacenti si possono ritenere quelli riguardanti l'adattamento strutturale, in quanto il moderno sviluppo della genetica aveva portato a considerare del tutto priva di fondamento la teoria lamarckiana dell'ereditarietà dei caratteri acquisiti, nonostante le evidenti difficoltà logiche incontrate nel giustificare — pur facendo appello al meccanismo mutazionistico — l'evoluzione della specie.Un largo processo di revisione di tale atteggiamento sembra oggi in corso, da una parte perché più frequenti si sono fatti i richiami alle questioni di ordine generale e dal-l'altra per l'affiorare, attraverso la sperimentazione, di fatti nuovi i quali hanno indotto a giudicare i fenomeni ereditari molto più complessi di quanto non potevano apparire a prima vista.Non sembra, quindi, fuor di luogo un rapido esame dei punti fondamentali del problema, alla luce di teorie antiche e recenti e dei più significativi risultati delle ricerche sperimentali postbelliche.2. Un sistema isolato, se è teoricamente concepibile, non trova effettivo riscontro in natura. Ogni sistema reale appare, infatti, in relazione più o meno stretta con altri sistemi e la sua conservazione dipende, in ogni momento, dal mantenimento di una certa armonia con questi.
Ricerche sulla ereditarietà dell'idroftalmo e della cataratta congenita in paesi delle Prealpi Orobiche
Authors: Gianferrari L. , Cresseri A. , Maltarello A. 
Published: July 2016

SUMMARYFrom the whole of genealogical researches on the people of B., P. and Al. towns, we came to the following conclusions:1) the monomeric recessive autosomal transmission of hydrophtalmos, with a high degree of penetration, has been confirmed;2) a type of congenital cataract with monomeric recessive autosomal hereditary transmission, with a comparatively reduced degree of penetration, has been located;3) in towns B. and P. affected lines of hydrophtalmos and congenital cataract have been located;4) the first definite heterozygotes for hydrophtalmos in town B. and for hydrophtalmos and congenital cataract in town P. have been located: they date back to the first half of the 18th Century;5) the date of hydiovariation's inception has been located at about two or three generations before, or around the middle of the 17th Century.
Data of twins born in Italy 1936-51
Authors: Karn M. N. 
Published: July 2016

SummaryData of 986 twins from the records of the Clinica Ostetrica of the University of Rome have been analysed as regards the distributions, means and standard deviations of mother's age, order of birth, birth weight and length of gestation time in groups of like and unlike sex.The chief characteristic of these data compared with similar data from English hospitals is the inclusion of cases of low birth weight and short gestation time. In the English data there are 9 cases out of 1137 of the group of weight under 680 g; in the present data there are 57 out of 1942 which fall into the lowest group under 500 g.Similarly in length of gestation the English data have only 2 cases out of 926 under 170 days compared with 33 of the Italian out of 945.The correlations between twin weights are respectively .8030 for like sex and .7604 for unlike sex; for weight and gestation period they are .3814 (like sex) and .3606 (unlike sex).The regression of weight on length of gestation runs as a smooth curve in accordance with previous findings. The mean weights for given gestation times are about the same as, or a little higher than, those for the English data.I am greatly indebted to Dr. Norma McArthur for giving me a copy of these data.
Familienbefunde bei letalen Anomalien der Korperform
Authors: Grebe Hans 
Published: July 2016

SUMMARYReport of the result of familial examinations on 49 stillborn of before half year of life died and dissected children with lethal anomalies.1. In two of 4 families, whose probands suffered from harelip and clett palate combined with other deformities, is supposed, that—just like harelip and clett palate without other malformations—an unstable dominant gen being origin of the mistake of development.In one case with a special severe combination and probable consanguinity of the parents is to think of homozygoty.In a fourth case the question of the origin of the combined deformities by « psychical trauma » may be discussed.2. In 32 families the cause of death of the probands is to be seen in a lethal closing mistake of the vetebral column.a) In seven of 20 families with an anencephalus signs of « Dysraphies » and other anomalies were found which may be caused by pathological gens. One time both parents of a (homozygote?) anencephalus who showed deformities of heart and limbs had Spina bifida occulta.b) In 5 of 12 families with Spina bifida aperta was the cause of deformation an unstable unregular dominant gen. In two other families is this probable.Anencephalie and Spina bifida aperta may be found together in the same family. Heterogenie ist probable for both.3. a) Hydrocephalie without other deformities was in 8 families not inherited.b) 4 families with microcephaly showed differences. Dominant gens for « Dysraphies » and recessive gens may bring about microcephaly.c) Consanguinity of the parents in a case of cyklopy is seen to be sign of recessive inheritance.