bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heritability of the Effect of Corticosteroids on Intraocular Pressure
Authors: Reuling F.H. , Schwartz J.T. 
Published: July 2016

In the late 1950's and early 1960's, it became evident that some glaucoma patients developed elevations of intraocular pressure, which were difficult to control, following prolonged use of systemic or ocular medications containing corticosteroids (Chandler, 1955, Alfano, 1963; Armaly, 1963). In addition, some patients without glaucoma, when treated with steroids for long periods of time, developed clinical signs of chronic simple glaucoma (McLean, 1950; François, 1954; Covell, 1958; Linner, 1959; Goldman, 1962). Fortunately, the elevation of intraocular pressure was reversible if the drug was discontinued.Over the past decade, extensive investigation of the “steroid response” has been undertaken. For this presentation, the steroid response may be considered as a gradual elevation of intraocular pressure, occurring over several weeks, in an eye being medicated with corticosteroid drops several times a day. The elevation in pressure is usually accompanied by a reduction in the facility of aqueous outflow. When relatively large numbers of subjects were tested with topical steroids, so that a wide range of responsiveness could be observed, a variation in individual sensitivity was demonstrated. Frequency distributions of intraocular pressure or change in pressure following steroids showed a skew toward the high side. On the basis of trimodal characteristics which they observed in such frequency distributions, Becker and Hahn (1964), Becker (1965) and Armaly (1965, 1966) considered the possible existence of several genetically determined subpopulations. These investigators distinguished three subpopulations on the basis of low, intermediate, and high levels of pressure response. It was hypothesized that these levels of response characterized three phenotypes, corresponding to the three possible genotypes of an allele pair, wherein one member of the pair determined a low level of response, and the other member determined a high level of response (Armaly, 1967).
La Componente Ereditaria nei Tempi di Reazione
Authors: Gedda L. , Tatarelli R. , Brenci G. , Gazzabin B. 
Published: July 2016

La misura del tempo è un dato indispensabile per la comprensione dei processi fisiologici e, nel nostro caso, più propriamente psico-neurofisiologici.Uno degli aspetti più evidenti della variabilità dei tempi psicofisiologici è dato dall'esistenza di una variabilità dei sistemi operativi nel porre in atto la risposta individuale a stimoli ambientali.Definiti come « intervallo minimo di tempo tra uno stimolo dato e una risposta volontaria », i tempi di reazione occupano un posto particolare tra i vari sistemi operativi, per la possibilità di standardizzazione delle condizioni sperimentali, di ripetibilità, di confrontabilità dei risultati e di adattabilità, mediante il cambiamento degli stimoli e delle reazioni, a un notevole numero di funzioni psicofisiologiche complesse.I lavori sperimentali realizzati per identificare i fattori causali della variabilità dei tempi di reazione non hanno condotto finora a risultati apprezzabili, in quanto tutti i ricercatori hanno utilizzato l'analisi fattoriale, con il risultato che le stime delle singole componenti causali sono state variabilmente esaltate o diminuite.
Poliomielite in Gemelli Un contributo alla «genetica» delle malattie infettive
Authors: Raimondo F. Di , Pedone S. , Casale I. , Santangelo G. 
Published: July 2016

Precedenti ricerche popolazionistiche (Witkop-Oosternyk, 1957), genealogiche (Aycock, 1942) e gemellari (Herndon e Jennings, 1951; Masini, 1953; Rainero e Terragna, 1959; Di Raimondo e Pedone, 1964) hanno portato dati consistenti a favore dell'ipotesi di un'influenza del genotipo dell'ospite nel trasformare la semplice infezione da virus polio in malattia paralitica. Rimangono aperti, tuttavia, molti problemi riguardanti la reale estensione e le modalità operative, cioè, la fenogenesi, di un tale condizionamento genetico.È dunque parso utile portare un contributo personale con un'analisi — condotta parallelamente in coppie di consanguinei, a livello qualitativo (presenza), quantitativo (entità) e cronologico (tempo) — delle fasi acuta ed evolutiva della malattia.Sono state studiate 71 coppie consanguinee di poliomielitici (43 coppie di gemelli, 19 di fratelli, 2 di cugini, 2 padre-figlio, 2 zia-nipote), per alcune delle quali soltanto è stato possibile condurre un sufficiente studio longitudinale.Esaminando, in questa sede, le sole coppie gemellari, osserviamo, soprattutto per la classe MZ, una notevole concordanza, a livello sia quali-quantitativo che temporale, come risulta dai seguenti esempi.
A Twin Register for Eye Studies and Need for Collaboration
Authors: Schwartz J. T. 
Published: July 2016

This twin register was organized as a resource for studies on the eye. It has been possible to share this resource with other disciplines through effective collaboration. Conversely, only through the assistance of other investigators who are working with twins, will it be practical to undertake certain studies which are important in ophthalmology. The purpose of this presentation is to convey a description of our register and some of its limitations, and to specify the need for collaboration with others.The original purpose in assembling this register was to identify a group of twins readily available for multiple clinical examinations. Since the first examining facility was to be located near the National Institutes of Health, practical considerations required that twin residence be limited to the metropolitan Washington, D. C. area. Twins of all ages were included in the register, since proposed investigations pertained to different age categories. No effort was made to select twins through randomization procedures; all twins who were identified were invited to membership in the register. A variety of methods were used to locate twins, including contact with schools and clubs, but the largest proportion of registrants were recommended by other twins.Twins were offered a thorough eye examination, along with the solicitation of their interest in participating in future research activities. The clinical examination was offered for the following reasons:1) To encourage informed interest in proposed future investigations by acquainting the twins with our facility and purpose;2) To perform base-line observations, so as to identify and enumerate ocular characteristics as an aid in selecting subsets of twins for future studies;3) To obtain data for possible estimates of heritability of selected ocular characteristics.
Proliferation Kinetics of Acute Leukemia Cells in Relation to the Chemotherapy
Authors: Gavosto F. , Pileri A. , Pegoraro L. 
Published: July 2016

SummaryThe proliferative characteristics of human acute leukaemia cells are reported and the relationships between the proliferative alterations and differentiation defect of these cells discussed. The proliferative activity of acute leukaemia cells was also studied in relation to cytostatic treatment.Emphasis is laid on the fact that in all cases of acute leukaemia the characteristic blast cells of the disease do not constitute a homogenous cell population but can be divided into various sub-classes with different kinetic and proliferative characteristics. It is also pointed out that all cytostatic treatment acts on the most actively proliferating classes and only indirectly on the non-proliferating classes.Finally, the need for more detailed study of DNA synthesis at chromosome and sub-chromosome level for the purpose of more fully understanding the response of leukaemic cells to the various chemiotherapies is underlined.
Mechanism of Action of Daunomycin
Authors: Di Marco A. 
Published: July 2016

SummaryDaunomycin (Da) a metabolite of Streptomyces peucetius has a cytotoxic and antimitotic activity on normal and neoplastic mammalian cells grown in vitro and strongly inhibits a variety of experimental tumors.The cell damage induced by Da is mainly nuclear.A finely granular appearance of the chromatin and marked alterations in shape and size of nucleoli in resting cells and many mitotic aberrations in mitotic cells were observed.Biochemical and autoradiographic researches show that the binding of Da with DNA causes a reduction of the DNA and RNA synthesis, especially of the RNA which is synthesized in the nucleoli and then passes into the cytoplasmic ribosomic RNA.Treatment with Da on synchronized cells shows a marked drop of the mitotic index and appearance of mitotic anomalies when the cells are treated in S and G2 phases.This reduction keeps also in the second mitotic wave. A reduction of the mitotic activity is observed also if the cells are treated near the middle of the interphase.Da causes a reduction in the percentage of the nuclei labelled with 3H thymidine and in the number of grains per nucleus, when the cells are treated in S phase, in the very beginning and middle of interphase.
Our experience with 5-Fluoro-2-Desoxyuridine
Authors: Brulé G. , Hane S. 
Published: July 2016

SummaryThe authors report 13 observations concerning solid tumors treated with 5-fluoro-2-deoxyuridine.11 of the patients have received protracted infusions at the rate of 1 mg/kg/24h during about a week.2 patients have received the drug by direct intravenous injection at the rate of 15 mg/kg/24h during 6 days for one of them and during 12 days for the other one. These two methods are discussed according to the results and toxicity of both of them.
Clinical Studies on the Effect of Imuran and Vincristine in the Treatment of Leukaemia
Authors: Storti E. , Traldi A. , Quaglino D. 
Published: July 2016

SummaryThe Authors describe the therapeutic effects obtained with Vincristine and Imuran in patients with acute leukaemia.The results obtained with Vincristine indicate that the drug may be usefully employed in some cases of lymphoblastic leukaemia, both in the untreated phase or when the disease has become resistant to other antimetabolites. The remissions are of shorter duration compared with those obtained with other available compounds and are substantially confined to the lymphoblastic variety of acute leukaemia.The preliminary clinical trial with Imuran has shown that the drug is better tolerated than 6-mercaptopurine and is able to produce good and satisfactory remissions in lymphoblastic and myeloblastic leukaemia, as well as in the blastic crisis of chronic granulocytic leukaemia, provided the dosage employed reaches 7-8 mg/Kg body weight daily.
Azathioprine in Myeloproliferative and Autoimmune Disorders
Authors: Taglioretti D. , Giangrande A. 
Published: July 2016

SummaryThe report presents the clinical results of treatment with Azathioprine 6 [(methyl-4-nitro-5-imidazolyl) thio] purine, in patients with acute leukaemia, the acute relapsing phase of chronic myelocytic leukaemia and in a group of patients affected by illness which have probably an autoimmune pathogenesis.Favorable results were obtained in the group of patients suffering from acute leukaemia with a percentage of clinical and/or haematological remission of 57%.A comparative analysis of the length of survival in these patients compared to that of a similar group of patients treated with 6-mercaptopurine is also reported.A fair response was also obtained in the group of patients in the acute relapsing phase of C.M.L.In the group of patients affected by diseases probably due to an immune pathogenesis, a favorable response was obtained in 2 cases of systemic lupus erithematosus with haemolytic anaemia and 1 case of acquired autoimmune haemolytic anaemia.
The different interpretations of the mechanism of action of antimitotics and the actual treatment of malignant hemopathies
Authors: Baserga A. 
Published: July 2016

SUMMARYAntimitotic drugs essentially induce a direct inhibition on the malignant cellular proliferation. Secondary mechanisms should even be considered: i.e. neoplastic clonal disadvantage, indirect antivitaminic mechanism for the intestinal atrophy caused by antimitotic drugs, endocrine failance due to the antimitotic drugs damages in the endocrine glands (pharmacological « hypophysectomy » and « castraction ») etc.
The Selectivity of Effectiveness of Cytostatic Agents
Authors: Gerhartz H. , Hampel K. E. 
Published: July 2016

SummaryThe selectivity of cytostatic action depends of the following factors:a) the compound, its mode of action, the applied dosage, the localization and the speed of activation, its metabolites and excretion;b) the sensitivity or resistance of the proliferated tissue;c) the individual general condition of the patient, the degree of malnutrition, the integrity of defense mechanisms and the ability of detoxication and the regenerative capacity of hemopoiesis.The action of cytostatic agents directed against specific cell functions of different cell systems develops distinct differences in clinical effects and toxicity among alkylating agents, antimetabolites and mitotic inhibitors. Comparative data of these compounds are given. Due to its selectivity of action each cytostatic agent possesses a specific optimal indication in hemoblastoses, neoplasias or immune reactions.
Sullo studio morfologico degli eritrociti dal punto di vista della genetica
Authors: Gedda L. , Torrioli-Riggio G. 
Published: July 2016

SUMMARYThe Authors have studied the erythrocytometric curve in twins using for comparison the Price-Jones' index for the evaluation of long term-findings in the same healthy subject. The upper limit of such an index is = 3. The monozygotic twins show curves which, when statistically analized, behave just as curves of the same subject. When the index values are over such a limit, a discordant disease — i. e. a disease present only in a twin — is usually observed. These findings may be explained by admitting that the diameter of erythrocytes represents a hereditary trait conditioned by the genotype.
Chromosomale Geschlechtsdiagnose mit Hilfe des Leukocytentests
Authors: Kosenow Wilhelm 
Published: July 2016

ZUSAMMENFASSUNGDie chromosomale Geschlechtsdiagnose mit Hilfe des Leukocytentests beruht auf dem Nachweis von Kernanhängen bestimmter Form und Grösse an polymorphkernigen Neutrophilen. Morphologische Grundlagen und methodische Einzelheiten dieses in der klinischen Praxis vielfach bewährten Verfahrens werden an Hand von eigenen Untersuchungen kurz geschildert.
Considerazioni intorno alla metodologia della ricerca sull'associazione fenotipica tra gruppi sanguigni e malattie nelle popolazioni umane
Authors: Serra Angelo 
Published: July 2016

SUMMARYThe genetical and medical importance of the research on the relations between blood groups and disease in the human populations requires a notable caution.In the present paper the need is pointed out that the samples be representative, sufficient and homogeneous and some elements are noted which might introduce sampling biases.Then the classic methods of analysis according to Aird, Woolf and Haldane are mentioned and their advantages and disadvantages outlined.Finally a sequential method of analysis is presented that may be applied very easily and usefully by the researchers who might have the data directly and continuously in the hospitals.
Familienbefunde bei Letalen Herzmissbildungen
Authors: Grebe Hans 
Published: July 2016

SUMMARYReport about examinations in the families of 24 children with severe, lethal malformations of the heart. At all probands, who had died before 6th month of life, the, cause of death could be insured by autopsy.Under 16 children with lethal defects of the septum 6 suffered frommongolism(additional one with enterocystom of oesophagus, one with double inguinal rupture, one with cleft palate and one with microcephaly and atresia of the duodenum). In none of these families any sign for heredital cause or « ovarial insufficience » of the mother could be found.In the families of 10 children withdefect of the septum without additional malformationtwo times the clinical examinations of the mother showed distinct symptoms of heart decompensation without evidence for acquired heart diseases. In two other families beside the probands other family-members with inborn heart diseases could be found, one time an autoptical proved defect of the septum at a cousin of our probands father.During these families seem to show heredity of lethal defects of the septum in anirregular dominant inheritance, only one time in an «isolated » case of lethal defects of the septum the cause of the malformation may be seen in severe bleedings of the mother during pregnancy.In an earlier report about similiar examinations two siblings could be found, one of them had only a defect of the septum, the other had beside a defect of septum, a severe harelip and cleft palate, a hernia diaphragmatica, a hypoplasia of the fingers and a microcephalia combined with arhinencephalia. The father of another child with a defect of the septum suffered from coloboma of the iris.It is supposed, that there are several gens to septum defects, that meansHeterogenie. Polyphenical effects of the gens result differential forms of manifestation, not only at the heart. There wereno differencesfound onhomozygoticsandheterozygotics.Among 8 children with differential other malformations of the heart (5 cases of severe stenosis of the aorta, 1 case of malformation of the pulmonal valve, 1 case of trasposition of the big arterias) only one time could be found the same anomaly (open foramen ovale, open ductus arteriosus) on two cousins (each of them have an non dissecated brother with equal clinical symptoms). Because the parents were non blood-related also in this family anunregular dominant inheritanceof the anomalies at the foramen ovale and the ductus arteriosus seems probable.Systematical examination in families with lethal malformations are further equal necessary as explications of pregnancy harms for exclusion of exogen factors.
The contribution of twin research to the physiology of exercise
Authors: Jokl Ernst 
Published: July 2016

« Physical characters in general are more influenced by heredity than are mental traits as measured by intelligence tests. Motor activity and temperament seem to be least influenced by heredity ».(H. H. Newman, Twins and Super Twins, New York, 1942).Twin research affords an opportunity to study the interplay of heredity and environment. For this reason, twin research is of special interest in the study of physiology of exercise. Genetically, identical twins are the same individual in duplicate because they are the product of a single fertilized egg which splits in half to form two individuals. Non-identical twins are different individuals who through chance were born together. They originate from two different eggs.In non-identical twins, physique may differ significantly because each partner possesses his own hereditary endowment (fig. 1). By contrast, identical twins represent two editions, so to speak, of the same body type (fig. 2). The degree of correspondence of morphological body features in identical, as against non-identical, twins has been statistically assessed by Newman, Freeman, and Holzinger (Twins, A Study of Heredity and Environment, Chicago, 1937).
Rara osservazione di “Osteogenesis imperfecta” riguardante la madre e due figlie gemelle MZ concordanti
Authors: Gedda Luigi , Gentile Raffaele 
Published: July 2016

SUMMARYDie Verfasser berichten ausführlich über einen seltenen Familienbefund einer osteogenesis imperfecta tarda bei einer fünfzigjährigen Frau und ihren beiden Zwillingstöchtern, MZ, im Alter von zwanzig Jahren. Dieser neue veröffentlichte Fall bestätigt die Erblichkeit der Krankheit und ihren dominanten Charakter; ausserdem zeugt er von einem hohen Durchdringungsvermögen und der Möglichkeit eines Familienmerkmals, welches — vie im vorliegenden Falle — in einem Vorwiegen der Plastizität über die Zerbrechlichkeit der Knochen und in fehlender Otosklerose besteht.Beim Skelett der Zwillinge bemerkt man ausserdem — im Gegensatz zur Mutter — Zonen von Knochenverdìchtung (lokalisierte, sekundäre Osteosklerose); und zwar an ähnlichen Stellen, was darauf schliessen lässt, dass sie genotypisch bedingt sind, obwohl dieses ein ungewöhnliches Symptom ist.
Concurrence of Morgagni's Syndrome, Schizophrenia and Adenomatous Goiter in Monozygotic Twins
Authors: Aschner Bertha M. , Kallmann Franz J. , Roizin Leo 
Published: July 2016

SummaryClinical and histopathological data are presented on monozygotic twin sisters concordant as to schizophrenia, Morgagni's syndrome, and adenomatous goiter. The association of the three traits may have been coincidental, but apparently had a common denominator. The genetic theory of Morgagni's syndrome (pointing to autosomal dominance with irregular penetrance and especially low manifestation in the male) is discussed.
Ueber eine Familie mit multiplen Missbildungen an Handen und Fuessen
Authors: Lehmann Wolfgang 
Published: July 2016

SummaryIn a family 5 females belonging to 3 generations were found with following malformations: Syndactyly (webbed up to the nails), oligodactyly, tendency towards duplication of digits, and brachydactyly. The intrafamiliar variability was not considerable with exception of an probandus having with 5 digits (with duplication on one digit). On the base of ontogeny the question is discussed if the disturbing factor concerning the palm of hand or concerning the squeleton is prevalent. In this family the two dispositions are probably combined. In bibliography a pedrigree with this combination of multiple malformations was not found.
Twins and Research
Authors: Rife David C. 
Published: July 2016

Summary1. The uses of twins as a tool to estimate heritability are reviewed.2. Comparisons of dizygotic twins with sibs provide a means of estimating how effective conditions in utero common to both types of twins may be in producing intra-pair differences.3. Genetic variations in plasticity should be taken into consideration in the interpretation of data obtained from twins.4. Methods for testing simple modes of inheritance by information obtained from dizygotic twins are reviewed.
Considerazioni Sulla Sordità Congenita Ereditaria Apparentemente Legata Al Sesso
Authors: De Vido G. , De’ Stefani G. B. 
Published: July 2016

SummaryAfter some brief considerations about the etiopatogenesis of the hereditary deafness, and the modern classification of its different nosologic pictures, the AA. pass on to consider four cases of female sex, two sisters and two cousins of mother side, with hereditary familiary deafness, apparently boun to the sex. All the four cases are characterized by the identity of the audiometrie findings, after the « Law of the symmetry of the hereditary deafness ».The AA. discuss at least the modality of the hereditary transmission and the anatomopatologic picture of the morbide form.
Retinoblastoma in two single-born sisters and two MZ female twins in the same sibship
Authors: Gedda L. , Alfieri A. 
Published: July 2016

SUMMARYA sibship is reported, including four female children, two of which MZ twins, all affected by retinoblastoma (the lesion being bilateral in three of them, and unilateral in a fourth one). The literature on the heredity of the condition is considered; the latter does not appear to be inherited as a regular dominant. Finally its genetic interpretation in the observed sibship is considered.
The Culgoora Radiospectrograph
Authors: Sheridan K. V. 
Published: July 2016

From 1951 to December 1964 the Radiophysics Division of CSIRO regularly operated a solar radiospectrograph at Dapto, N.S.W. This instrument finally spanned the frequency range from 5-2000 MHz with 8 separate receivers, 6 of which used mechanical tuning. Simple rhombic aerials were used on all bands except the 200-2000 MHz band which used a parabolic reflector. The quiet sun could be detected on the latter band only.During 1965 a section of this spectrograph covering the frequency bands from 10-210 MHz was moved to the CSIRO Solar Observatory, Culgoora, N.S.W., and operated as an interim measure to maintain continuity of observations during the installation of the 80 MHz radioheliograph.