bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application de la Génétique à la Pratique Médicale— (La Constitution au point de vue de la Génétique - Le « Chronon »: concept et application au service de la Médecine)
Authors: Gedda L. 
Published: July 2016

SUMMARYThe old concept of constitution, which has been dominating Medicine until this century, has to be revised in the light of the development of Medical Genetics and of Clinical Genetics, this new branch which is applied at the beside of the single diseased.The study of the family of the patient from a genetic point of view is both possible and precious. The basic principles of the hereditary analysis are recalled, and the Author especially stresses how useful it can be to consider the temporary virtuality of the hereditary unity, which he suggests to call chronon. The study of the chronon of the genes contained in the genetic background of the family enables to visualize many a possibility in the future of the patient, such as the mean age of onset for a hereditary disease, or the steps of extinction in the course of ageing.The therapy of a hereditary disease may be conceived in terms of a substitutive therapy.
La Sindrome di Franceschetti. Osservazioni citogenetiche
Authors: Serra A. , Milanesi I. , Gualandri V. 
Published: July 2016

SUMMARYThe karyotype has been analysed of two subjects with mandibulofacial dysostosis (Franceschetti's syndrome), considering that the main anomalies of this condition are also present in other malformations for which the association with particular genomic or chromosomal aberrations has been demonstrated.In both subjects, the karyotype was normal.The comparison of the clinical and cytogenetic data of this malformation with those of others (trisomy-D1 syndrome, trisomy-18 syndrome, deletion-18 syndrome) provides further evidence of the complexity of the genie systems controlling the processes of individuation during embryonic development, and of their interferences. However, this also shows how difficult it is to obtain human chromosome maps through the study of the macroscopic phenotypic characteristics of certain chromosomal anomalies.
Is Human Leukemia a Somatic Mutation of Blood-Forming Cells due to a Virus?
Authors: Torrioli M. , Torrioli-Riggio G. 
Published: July 2016

SUMMARYThe authors briefly describe their old and recent research work on the etiology of leukemia, and discuss the genetic-viral hypothesis of human leukemia. The injection of human leukemic blood in fertilized chicken eggs, before incubation, causes a severe disease in the embryos. This disease is characterized by the fact that the hemoblasts are extremely atypical, and loose the ability to produce intravascular blood cells, while they form perivascular infiltrates. The disease is indefinitely transmitted from egg to egg, also using acellular filtered material. The transmissibility is inactivated by heat. In conclusion, we can say that the observations described strongly support the viral etiology of human leukemia and suggest the hypothesis that the virus might be responsible for a somatic mutation of the blasts.
Hereditary Components in vocational Preferences
Authors: Vandenberg Steven G. , Kelly Lillian 
Published: July 2016

SUMMARYThe Strong Vocational Blank inventory was administered to 43 pairs of identical and 34 pairs of fraternal twins in high schools in the Metropolitan Detroit area, and scores obtained on 44 vocational preference scales and 3 personality scales. F tests of the ratio between fraternal and identical within twin pair variances were significant beyond the .01 level of significance for the scales for Physicist, Mathematician and Osteopath while 9 more scales had F-ratios significant beyond the .05 level; these were for the scales of Dentist, Personnel Director, Veterinarian, Sales Manager, Aviator, Chemist, Public Administrator, Engineer and for the scale of Interest Maturity. Thus a total of 12 scales had F-ratios indicative of some hereditary contribution to the within pair variance of the twins in this study.A comparison with the results published by Carter in 1932 was possible for 21 scales, by computing intraclass correlations for the present data. From these, as well as from the intraclass correlations reported by Carter, h2 values were computed and compared. There was stronger evidence for hereditary components in the earlier study, and the rank order correlation for the h2 values in the two studies was only .16, although in both studies it was found that the “Science” group of interest scales had the highest “average” h2 value (computed from average intraclass correlations, after Z-transformation).These results are interpreted as indicative of a small but persistent contribution of hereditary components to the vocational choices reflected in scores on the Strong Vocational Preference Blank, particularly for scientific careers.The use of the male form for the female twins in this study seems partly justified by the presence of equally often high mean values on scales and higher heritability estimates on some scales compared with the boys.
Demographic studies on Indians from Santa Catarina, Brazil
Authors: Salzano Francisco M. 
Published: July 2016

SUMMARYThe Indian populations of the State of Santa Catarina, Brazil, are found in two places, Duque de Caxias and Xapecó. In the former live Aweikoma (possibly a Caingang subgroup), Caingang and Guarani; in the latter, Caingang and Guarani. The Aweikoma intercross freely with the Caingang, and the Aweikoma/Caingang group thus formed can be compared with the Caingang of Xapecó. The Guarani, on the other hand, are reproductively isolated from both populations. The Aweikoma/Caingang of Duque de Caxias and the Caingang of Xapecó differ from each other in characteristics related to racial composition (degree and amount of non-Indian genes), gene flow, average age of mothers and frequency of stillbirths. On the other hand, they show similarities in a series of demographic variables related to fertility, mortality and inbreeding levels. The index of total selection intensity is practically the same in the two localities.
The Symmetry of the Plantar Main Line Formula in an Indian Population
Authors: Datta P. K. 
Published: July 2016

SUMMARYThe plantar dermatoglyphic prints of 125 male and 125 female Panjabi Indians have been studied in order to determine the relative incidence of symmetry and asymmetry.Females tend to possess a higher degree of symmetry than males. On the contrary, asymmetry shows a preponderence in males.The differences between males and females are statistically significant when total symmetry is compared to total asymmetry, or when a comparison is made between the three groups of S and A. However, when the total symmetry and the rest of the combinations taken together are studied statistically, the differences appear to be of doubtful significance.
Betrachtungen zur Genetik der familiären Gliome
Authors: Metzel Eberhard 
Published: July 2016

SUMMARYA study has been carried-out on familial glioma, according to various data, both personal and drawn from the literature. The statistic evaluation indicates, at least in part, a probable hereditary conditioning. Out of 393 cases of glioma, three have been found to be familial, which is much more than it would be expected on the basis of statistical evidence. This should be taken into account in the evaluation of the origin of tumours.
Association of ABO Blood Groups with Incidence of renal Lithiasis
Authors: Anand Swadesh 
Published: July 2016

SUMMARY187 patients suffering from renal lithiasis have been examined to find out an association with ABO blood groups. It has been found that the incidence of Renal Lithiasis is comparatively higher in the patients of blood group A than in those of blood group O. The difference in percentage ratios A/(A+0)% in patients and controls is 17.96; the χ2 17.4331 for one degree of freedom shows that it differs from unity significantly. The frequencies of renal lithiasis in persons of blood group A against those of B, O and AB are 1.91, 1.59 and 1.31 respectively.
Study of Mouse Hemoglobin by Starch-Gel Electrophoresis
Authors: Mehrotra T. N. , Cardinali Giuseppe 
Published: July 2016

SummaryThe hemoglobin pattern of 18 inbred strains of mice was studied by starch-gel electrophoresis. In 7 strains (C57BL/10, C57BL/6, C57BR/cd, C57L, C58, SWR, and SEC/1Re) the electrophoretic pattern was found to be of single-band type: in the remaining 11 strains (AKR, DBA/1, DBA/2, CBA, C3H/He, C3HeB/Fe, Fl/1Re, RF, 129, A, and A/He), 6 components were constantly observed when the electrophoretic run was carried out for 20 hours. Hemoglobin from late C57BL/6 fetuses showed an electrophoretic pattern identical to that of the adult animal. Hemoglobin from AKR and DBA/2 late fetuses and newborns showed an electrophoretic pattern similar to that of the adult animal, but the slowest band was more intensely stained as compared with the corresponding band of the adult animal.
Taste Sensitivity to Phenylthiourea and Leprosy
Authors: Beiguelman B. 
Published: July 2016

SUMMARYTaste thresholds for phenylthiourea were measured among 900 Caucasoid leprous patients and among 1000 healthy Caucasoid control males, of the State of São Paulo, Brazil.The frequency of non-tasters among the leprous sample (19.7%) is significantly lower than that found among the healthy sample (24.7%). These results suggest a correlation between taste ability to phenylthourea and leprosy.
Taste Sensitivity to Phenylthiourea and Drugs with anti-leprotic Effect
Authors: Beiguelman B. , Marques M. B. 
Published: July 2016

SUMMARYThe taste thresholds of 315 lepromatous patients confined more than four years in a Leprosarium was determined. These patients were ascribed to three clinical groups according to their clinical and bacilloscopical regression during the treatment.The data obtained show no correlation between tasting and clinical conditions.
Ricerche statistiche e genetiche sulle Malformazioni congenite. II: Considerazioni sulla frequenza delle malformazioni congenite osservate presso l'Istituto Ospitaliero Provinciale per la Maternità di Milano tra 85976 nati dal 1942 al 1962
Authors: Beolchini Pier Emilio 
Published: July 2016

SUMMARYAmong the 85,976 children born at the «Istituto Ospitaliero Provinciale per la Maternità di Milano» from January 1st 1942 through December 31st 1962, 1185 newborn infants havebeen observed with one or more congenital malformations, i. e. with a frequency of 13,8°/°°. Distribution of this material in a first period of six years and in three subsequent quinquennia, and comparison of the frequencies of the subjects with malformations observed in the various periods allow us to draw the following conclusions:1) in the period 1942-1962, especially in the latest years, the total frequency of congenital malformations has not exhibited significant variations;2) the frequency of harelip and/or cleft-palate, omphalocele, hypospadia, polydactily, hypodactily and syndactily appears rather uniform. The same applies, as a whole, to CNS malformations, though a certain heterogeneity has been found in the frequencies of rachischisis observed in the various periods;3 ) as for mongoloid, dysmyelitic and club-foot subjects a significant heterogeneity of the frequencies observed in the various quinquennia has been demonstrated.
Incidenza dei fattori Kell, Cellano e Duffy in un campione di popolazione romana
Authors: De Bartolo Mario 
Published: July 2016

SUMMARYThe Author has studied the Kell, Cellano and Duffy factors in a selected sample of the roman population.A comparison of the already known data for the rest of Italy shows that the Kell factor has a higher frequency, as compared to that found by other Authors in other regions, while the Duffy factor appears to be less frequent.
Rappresentazioni Geometriche delle Frequenze dei Gruppi Sanguigni nello Studio delle Popolazioni
Authors: Pace D.P. , Parisi P. 
Published: July 2016

SUMMARYAfter a short introduction on the relationships between ABO blood groups and the main racial groups, the Authors consider the diagrammatic representation of the p, q, r values, according to the method by Streng, and apply it to the frequencies in Italy. Another method of diagrammatic representation, according to C. C. Li, is also considered, and a comparison is made between the two methods, both applied to the frequencies of ethnically similar populations, such as Caucasoids, Corsicans, Sardinians and Basques.The need is emphasized for more detailed studies, i. e. at the level of regions, countries, so as to provide as many data as possible.
Nuovi dati desunti dallo spoglio di un archivio parrocchiale di tre secoli
Authors: Gandini L. 
Published: July 2016

SUMMARYIn this work the author by making use of parochial archives in Busnago (Milan) has controlled the long life proceeding of 187 among the 259 twins-pairs numbered during a period of three centuries (1632-1962). The author has verified the mothers' age at the moment of childbirth.He has been able to point out a greatest concordance in the average life time of the MZ pairs in comparison with the DZ ones, which agrees with the hypothesis of a genetic long life factor. The mothers' average age, studied on a small group of population during a period of three centuries resulted, in the 159 cases the author could peruse, to be from 30 to 35 years, of age in agreement with the data collected by Gedda on the global Italian population during short periods of time.This average age supports the hypothesis that among the factors of multiple pregnancies may be numbered besides mothers' age a geographic (racial) variability.
Distribuzione dei gruppi plasmatici aptoglobinici nella popolazione ligure
Authors: Cerruti P. , Borrone C. , Cordone G. , Colli S. 
Published: July 2016

SUMMARYThe Authors investigated the haptoglobin groups with immunoelectrophoresic technique in 150 subjects from Liguria. It was observed a frequency of the 39,33% for the types Hp1/Hp1 and Hp1/Hp2, of the 21,34% for the type Hp2/Hp2.
Genetica Clinica
Authors: Gedda Luigi 
Published: July 2016

Nel Decimo Congresso internazionale di Genetica il Comitato Organizzatore ebbe l'eccellente idea di dimostrare alla popolazione di Montreal, Canada, quale possa essere l'utilità pratica della Genetica e perciò aprì al pubblico una Mostra che portava questo slogan: «La Genetica a servizio dell'uomo» (Genetics in the Service of Man).
Se dovessimo anche noi fabbricare uno slogan come riepilogo dei nostri lavori, mi sembra che potrebbe essere il seguente: «La Genetica a servizio della Medicina».
Infatti i temi delle nostre relazioni, tavole rotonde, simposi e comunicazioni riguardano per 1/3 l'uomo sano e per 2/3 l'uomo ammalato. Del resto, come nella Medicina la conoscenza dell'uomo sano è naturale premessa per la conoscenza dell'uomo ammalato, così nella Genetica la conoscenza dell'eredità dei caratteri normali dell'individuo e della popolazione è, a sua volta, la necessaria premessa per la conoscenza della Genetica delle malattie dell'uomo.
La Genetica che si occupa di queste malattie porta un nome ormai introdotto e accreditato: «Genetica Medica». Il tema della mia relazione porta invece un nome diverso, quello di «Genetica Clinica», nome che io vorrei giustificare dinanzi alla vostra cortese attenzione.
Twins and Congenital Heart Disease
Authors: Campbell Maurice 
Published: July 2016

Summary and ConclusionsThe number of twins in 942 families where the propositus had a congenital malformation of the heart has been studied. The 38 pairs were not significantly more than could be expected by chance: nor were the 21 pairs where one member had a malformation of the heart. In 16 pairs, one was affected and the other normal; and in 5 pairs, one was affected and the other unknown. In 2 pairs, both were unknown because of early deaths; and in 15, both members of the pair were normal. In no pair were both members known to be affected.There is clear evidence from this series and from the series of Uchida and Rowe (1957) and of Lamy et al. (1957) that where one member of a pair ofmonozygotictwins has a congenital malformation of the heart, the other is generally normal. It is the exception rather than the rule for both members to be affected, though several examples of such pairs have been reported.There is some evidence from these three series that monozygotic twins are more liable to have a malformation of the heart than dizygotic twins and their sibs.It follows from these two findings, that the immediate cause of the malformation of the heart must be environmental, though probably there is some genetic predisposition. A disturbance of the foetal circulation to the affected twin because of a single placenta and chorion seems to be the most likely environmental cause.I should like to thank Professor Gedda of Rome and Professor Polani for their helpful suggestions and Dr. I. E. Evans for letting me see his unpublished paper on the evidence for monozygosity in some of the pairs of twins included in this paper.
La consanguineità nel Lodigiano dal 1900 al 1956
Authors: Serra A. , Soini A. 
Published: July 2016

SUMMARY
In this work the results of a research on the consanguinity of populations living in the Lodigiano, the southern part of the province of Milan, are exposed and briefly commented.
It has been found:
1) a relatively low incidence of consanguineous marriages from the third to the sixth degree (uncle-niece and aunt-nephew, first cousins, first cousins once removed, second cousins and double relatives), which varies with the time and the number of inhabitants of the «comuni»: in the whole, from a frequency of 2,27% in the years 1900-1923 they have decreased to 1,54%, in the years 1933-1956;
2) correspondently low coefficients of inbreeding, being F 0,00101 in the first period and F 0,00061 in the second;
3) no negative correlation between the number of inhabitants of the «comuni» and the incidence of consanguineous marriages.
The marked difference between these results and that obtained for the other part of the province of Milan shows how great the variability of this phaenomenon is even in small areas; variability that should be accurately evaluated and taken into account for studies of population genetics.
Analisi popolazionistica dell'etnia Valdostana attraverso il fenomeno gemellare
Authors: Gedda L. , Brenci G. , Bérard-Magistretti S. , Magistretti F. 
Published: July 2016

SUMMARYThe Authors have studied, from the standpoint of population genetics, twins born in the Aosta Valley from 1910 to 1957. This material, consisting in 980 pairs, has been examined from the standpoint of the frequency ot twin deliveries (Gemelliparity Index), of monozygosity (Monozygosity Index), and of patronymic (Patronymic Index). The Authors show that the region may be divided in geo-demographical departments, 6 of which may be considered « isolates » with a high rate of inbreeding. Moreover, the usefulness of the twin-method in population genetics is demonstrated.
De l'influence de l'exercice sur l'évolution des organes. Une théorie sub-lamarckienne de l'évolution
Authors: Gini Corrado 
Published: July 2016

Lamarck a condensé sa théorie de l'évolution des formes vivantes dans les deux lois suivantes:Dans tout animal qui n'a point dépassé le terme de ses développements, l'emploi plus fréquent et soutenu d'un organe quelconque, fortifie peu à peu cet organe, le développe, l'agrandit, et lui donne une puissance proportionnée à la durée de cet emploi: tandis que le défaut constant d'usage de tel organe l'affaiblit insensiblement, le détériore, diminue progressivement ses facultés, et finit par le faire disparaître.Tout ce que la nature a fait acquérir ou perdre aux individus par l'influence des circonstances où leur race se trouve depuis longtemps exposée, et par conséquent, par l'influence de l'emploi prédominant de tel organe, ou par celle d'un défaut constant d'usage de telle partie, elle le conserve par la génération aux nouveaux individus qui en proviennent, pourvu que les changements acquis soient communs aux deux sexes, ou à ceux qui ont produit ces nouveaux individus.La théorie de Lamarck a été généralement acceptée pendant un certain temps par les biologistes évolutionnistes, jugeant qu'elle donnait une explication satisfaisante de l'adaptation des formes vivantes au milieu.
Osteopetrosis: review of dominant cases and frequency in a Brazilian State
Authors: Salzano Francisco M. 
Published: July 2016

SummaryEleven reports of osteopetrosis due to dominant genes (table 1) establish in a firm basis the existence of such a genetic variant. By personal interview with all radiologists and orthopedists of Pòrto Alegre and larger Rio Grande do Sul cities, an estimate of 1: 100,000 was obtained for the frequency of osteopetrosis in this Brazilian State.
Prime osservazioni sulla distribuzione in Italia degli antigeni del sistema Kidd Ricerche sulla popolazione residente nel Lazio
Authors: Giorda Dott. Renato 
Published: July 2016

SUMMARYAfter mentioning the main data of literature concerning the subject, the Author reports on the result of some research directed to establish the distribution of antigenes of the Kidd system in the population resident in the region of Latium.This research has allowed to establish, in 110 individuals examined the presence of the following percentages; Jk (a+) 76.36%; Jk (a—) 23.64%.The Author calculates further on the relative genie and genotypie incidence and finally calls the attention on the importance of the antigenes of the Kidd system from the forensic-medical point of view for the surveys directed to ascertain the ratio in relationship.
Importanza della Placentazione sul peso alla nascita dei Gemelli
Authors: Gedda Luigi , Poggi Domenico 
Published: July 2016

SUMMARYThe Authors have analyzed the separate and combined influences of zygosity, placentation and sex on intra-pair birth-weight differences in 124 MZ and 124 DZ twin pairs. The highest influence on birth weight was found to be due separately to zygosity and placentation (respectively in cases of dizygosity and of a single placenta). The single placenta causes more circulatory unbalance and, as a consequence, more intrapair weight difference. This finding may help to explain the higher frequency of blighted fetuses in utero in MZ twin pregnancies and that of discordant congenital heart disease in female MZ twins.
Hereditary spino-cerebellar ataxia in a large Brazilian Kindred
Authors: Carpilovsky José C. 
Published: July 2016

SummaryA large Brazilian family, of white ancestry, in which several members presented a spinocerebellar ataxia, was studied. Informations were obtained covering six generations, in a total of 337 related individuals. 116 of them were examined by the author. 18 presented the disease, and of these 10 were alive at the time of the study. Besides them, by her descendents, it was possible to find a carrier of the gene, who died in a preataxic age.The disease is transmitted by an autosomal dominant gene, and appears at the age of 38.33 ± 1.74 years. Cerebellar, posterior chord and pyramidal alterations were present in the sick persons. Almost all the patients presented disturbances of the temperature sense. The disease had not lowered the viability and fertility of the affected persons.