bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chronogenetics. Its Foundations, Scope, and Impact
Authors: Gedda L. , Brenci G. 
Published: July 2016

SummaryMany chronological correlations in different plant and animal species, in populations, in human families, and between cotwins, prove the existence of characteristic biological times. Some such times also tend to be related to cosmic time, in which they develop and from which they are induced, resulting in peculiar composite times, such as the daily, monthly, or annual rhythms, that are the object of study of chronobiology.Beyond these examples of exogenous chronological induction, the existence of a hereditary biological time is postulated, as the basic phenomenon in the relationship between time and life. The newborn scientific branch of chronogenetics is devoted to the study of the fundamental, endogenous genetic time, with its theoretical and practical, normal and pathologic implications. To explain and interpret the mechanisms of the hereditary biological time, the authors have developed a model based on the concepts of ergon (i.e., stability of the gene) and chronon (i.e., lifespan of the information). This Ergon/Chronon System is related to the gene, bringing into focus the fourth dimension and the dynamic aspects of the unit of inheritance.The applications of chronogenetics extend to every expression of life, from the most primitive unicellular to the higher plants and animals. In the area of normal human traits, the study of the hereditary biological time contributes significantly to the interpretation of such phenomena as development, reproduction, homeostasis, and senescence. In the area of medicine, chronogenetics interpretes, unifies, and develops the temporal phenomena of inheritance. In a future perspective, chronogenetics appears to be fundamental for eugenics, preventive medicine, and prognosis.
A Method for Sexing 90-Day-Old Blood Stains in Absorbent and Nonabsorbent Materials
Authors: Aragonés J. , Egozcue J. 
Published: July 2016

SummaryCells from blood stains in absorbent and nonabsorbent materials like stainless steel, unpolished wood, cloth, glass, and paper, can be correctly sexed using fluorescent stains even after 90 days, during which the stains had been exposed to light, unfixed.
Haemoglobinopathies in the Indian Subcontinent.A Review of Literature
Authors: Saha N. , Banerjee B. 
Published: July 2016

SummaryAn up-to-date review of literature on the distribution of haemoglobinopathies in the Indian subcontinent has been presented. Haemoglobins S, D, E, J, K, L, M, Q, β-thalassaemia major, β-thalassaemia minor, α-thalassaemia minor, haemoglobin H, haemoglobin Lepore and persistence of foetal haemoglobin have been reported from India, β-thalassaemia in combination with haemoglobins S, E, D, J, K, Q has also been reported. Haemoglobin S is found to be prevalent among tribal populations in various regions of India, while haemoglobin D is prevalent among Sikhs, Pathans and Gujratis. Haemoglobin E is present in high frequency among populations of Assam, Bengal and Veddahs of Ceylon. β-thalassaemia major is widespread in various populations. There is paucity of data regarding distribution of β-thalassaemia minor and α-thalassaemias in this region.
Alcune Malformazioni come Casi di Consulenza Eugenica
Authors: Gedda L. , Porto G. Del 
Published: July 2016

SUMMARYAfter having rapidly indicated Eugenics' tasks and aims, namely in the field of malformations, the Authors present a number of cases selected from the Mendel Institute Eugenic Counseling. This selection was made in order to show the various simple models of inheritance, while advancing hypotheses about more complex ones in the inheritance of malformations.General conclusive remarks are made, and the need is stressed of the realization of meetings for the study of the morbid aspects of the various populations, in order to assemble an ever growing number of those notions needed by Eugenics for ever better diagnoses and prognoses.
I 17-Chetosteroidi Totali nei Gemelli
Authors: Gedda L. , Dati T. 
Published: July 2016

SUMMARYThe rate of the total urinary 17-ketosteroids has been studied in twins of the two sexes (8 ♂ ♂ and 3 ♀ ♀ MZ, and 4 ♂ ♂ and 3 ♀ ♀ DZ, for a total of 18 twin pairs).On the basis of this material it could be shown: (i) that the metabolism of the urinary 17-ketosteroids is genetically controlled for aquantumof 43.65%; (ii) that the secretion of the urinary 17-ketosteroids is correlated with age, and (iii) that a quantitative differentiation of the phenomenon exists in the two sexes.
Pterygium in an Isolated Population
Authors: Forsius Henrik , Eriksson Aldur 
Published: July 2016

SUMMARYThe incidence of pterygium was studied in an isolated highly inbred fisher population. A clinical and hematological examination was performed and the blood chemistry was studied. Genealogical tables (pedigrees) were prepared for all probands and the degree of consanguinity in their parents stated. Of the total of 479 subjects studied by random sampling, 19 (4 per cent) had pterygium with a relatively high manifestation age. No linkage was detected between the genes for the blood group systems, serum groups etc. and the gene for pterygium. Increased capillary fragility was established in 10 probands. Capillary permeability was studied in 2 probands by the concentration in the anterior chamber of intravenously administrated fluorescein, and the test was found to be weakly pathological in one of them. The serum cholesterol level was elevated in 5 of the patients studied. Ophthalmological examination indicated the accumulation of degenerative eye diseases. Pingueculum showed a more pronounced development in 10 of the 17 subjects examined than in the rest of the population. The possibility of recessive transmission of the hereditary predisposition is discussed with reference to the high frequency of inbreeding and the accumulation of pterygium within the isolated population. According to the special frequency-raising peristasis conditions in an outer archipelago community and to the mendelian segregation rate, a not sex-linked, simple dominant gene, with low penetrance and no selective disadvantage for the pterygium seems to be the most plausible explanation. Because of the late manifestation age, pterygium was observed only in 2 generations. The expressiveness of the gene was unsteady and asymmetry of pterygium in the eyes of the probands is not uncommon.
A U. S. Case of Dicephalus tetrabrachius dipus
Authors: Brewster Paul G. 
Published: July 2016

SUMMARYOn 12th December, 1953 a set of conjoined male twins was born to Mr. & Mrs. Cecil Hartley in Petersburg, Indiana (U.S.A.). The mother, aged 28, had previously given birth to four normal children.Each of the twins had a neck, a pair of shoulders, two arms, one heart and one stomach. One of them had two lungs, while the other had just one. Two nervous systems were found. The genitalia were normal.Both twins died of acute cardiac dilatation on 12th April, 1954 having survived four months.
Human Cytogenetics
Authors: Ford C. E. 
Published: July 2016

May I begin by recalling that at the Copenhagen Conference five years ago, Tjio and Levan had just published their almost apologetic announcement that they could only find 46 chromosomes in cultured human somatic cells, and Hamerton and I presented evidence that there were 23 bivalents in spermatocytes, not 24.Since that time there has been a very marked expansion of work in human cytogenetics. The reason is not hard to seek: the findings have been of significance in so many fields of medicine ranging from endocrinology, through paediatrics, gynaecology and mental diseases to haematology and cancer.To the biologist, this outpouring of interest may seem at times to have bordered on the hysterical. For him the developments may have done little more than illustrate in our own species the principles that were established in the twenties and thirties with other material. On second throughts he will realize that man offers unique advantages for cytogenetic study in virtue of the enormous numbers of individuals who are subjected to medical scrutiny and thereby become candidates for chromosomal examination. But he will also remember the serious disadvantages, (some shared with human Mendelian genetics) of long generation time, small family size, impossibility of experimental mating and lack of opportunity (except perhaps rarely in males) to study the meiotic pairing which can be so revealing of homology.If opportunities for direct test of an interpretation are few, reliance on general hypotheses must be the greater. I make it a rule to doubt an observation if it is not in accord with hypothesis. This is not to reject Bateson's exhortation to “treasure your exceptions”; but one must first make quite sure that they are exceptions. Perhaps one does not make so many new discoveries this way, but fewer may later be shown not to be discoveries after all.
Presenza di Emoglobina «L» nel Ferrarese e di Emoglobina «D» nel Bolognese
Authors: Silvestroni E. , Bianco I. , Lucci R. , Soffritti E. 
Published: July 2016

SUMMARYThe Authors describe from the electro-phoretic, biochemical, spectrophotometric and chromatographic points of view the slow Hb as observed in 5 family groups from Ferrara and Bologna, in 4 of which they found an Hb L, while the 5th presented an Hb D. A new Hb is therefore added to the numerous abonrmal hemoglobines already found in Italy (Hb S, Hb G, Hb D, Hb K, Hb H, Hb J, abundant Hb A2): the Hb L, which is rather frequent in the region of Ferrara.As for the Hb D, its presence in different regions of Italy is stressed, in as far as the first family, previously described, came from Calabria, and the present one from Bologna.
Malattia di Besnier-Boeck-Schaumann in due sorelle gemelle
Authors: Ormea Ferdinando 
Published: July 2016

SUMMARYThe Author reports on the simultaneous appearance of a skin manifestation of the B.B.S. disease in female Twins. Partly diffuse and partly nodose infiltrations, with tendency to peripheral extension and central resolution constituted the clinical picture of the disease: (diffuse, small nodose variety of Boeck's sarcoids). In both cases the localisation was on the right cheek, the time-course was very similar. The histological picture was almost identical and was represented by infiltrations of epiteloid-cells with concentrical distribution.
Osservazioni sulla distribuzione delle anomalie mediterranea e drepanocitica in tre famiglie calabresi
Authors: Gigante D. , Santagati U. , Ghione R. 
Published: July 2016

SUMMARYThree families from Calabria, whose members were related to each other have been studied. In the first there were both the thalas-semic and the drepanocytic traits separately in its members; in the second the thalassemic trait and in the third the drepanocytic trait. From the marriage of individuals with thalassemic trait from the first and the second family a child was born with Cooley's disease, from the marriage of drepanocytic individuals from the first and the third family a drepanocytic girl was born.The clinical, hematologic and genetic characteristics of the 19 members of these families are reported and the distribution of the pathologic features is discussed.
Sesso genetico nei mielociti neutrofili normali e patologici Nota II
Authors: Mario Torrioli , Giovanni Brenci , Giuseppe Casparrini 
Published: July 2016

SUMMARYThe Authors confirm the finding of a difference in the diameter of the nuclei of myelocytes between males and females.The diameter is greater in the females, with a significance of 1‰ (Student's t).In cases of myelocytic leukemia the difference is even greater, suggesting the hypothesis that in this disease the cells may be polyploid.
Sesso genetico nei mielociti neutrofili normali e patologici
Authors: Mario Torrioli , Giovanni Brenci , Giuseppe Casparrini 
Published: July 2016

SUMMARYThe Authors report the finding of a difference in the diameter of the nuclei of myelocytes between males and females.The diameter is greater in the females, with a significance of 5% (Student's t).In cases of myelocytic leukemia the difference is even greater, suggesting the hypothesis that in this disease the cells may be polyploid.
On sweet Taste perception for P. T. C.
Authors: Skude Gunnar 
Published: July 2016

Summary67 persons aged 19 to 33 were examined with P. T. C. solutions by the method of Harris and Kalmus (1949). Two persons (2.99%) distinguished between distilled water and a P. T. C. solution which they described as sweet. Four persons (5.97%) distinguished distilled water from P. T. C. which they, however, described as “sweet and bitter”. When both these categories were regarded as sweet tasters, the frequency was 8.96 per cent.The observed frequency supports the hypothesis of an autosomal dominant mode of inheritance for sweet taste perception for P. T. C. (Skude 1959).
La voce nei gemelli monozigotici
Authors: Gedda L. , Ratti L. Fiori , Bruno G. 
Published: July 2016

SUMMARYThe Authors describe the methodology of an analytic electroacoustical study of the spoken voice of MZ twins of prepuberal age.The study was intended to reveal any possible analogies of the vocal spectrum and to ascertain the extent of the genetic conditioning of such analogies. For this purpose the Authors analyzed electroacustically a recorded material obtained as follows:a) during free conversation,b) by applying a laryngophone to the larynx in order to identify the fundamental laryngeal frequency,c) after introducing in both cotwins a critical variant by application to the ears of a deafening tone.Identical studies were carried out on a control material including DZ pairs and pairs of random-coupled non-related individuals very similar as to age and build.The results can be summed up as follows:1. The curves representing the vocal spectrum at the various frequency for each MZ pair reveal a marked similarity both in the general trend of the vocal curve and in the values at each point of the curve. The similarity is specially marked in the vicinity of the voice's fundamental frequency.2. The location of the fundamental laryngeal frequency in the majority of MZ pairs has been found to be very close, and in many cases even coincidental.3. Neither the analogies in the vocal spectrum nor the location of the fundamental frequency have been significantly modified by deafening.4. The control material (including DZ pairs and random-coupled pairs of individuals having different heredity but similar as to age and build) has revealed marked dissimilarities both in the curves of the vocal spectrum and in the location of the fundamental laryngeal frequency.On the basis of these results the Authors conclude that there is a similarity in the spoken voice of MZ pairs of prepuberal age they have examined, and this similarity is to be largely ascribed to morphological and functional factors of similarity of a genetic nature in the laryngeal generator.
Ricerche sulla familiarità del carcinoma ovarico
Authors: Serra A. , Soini A. 
Published: July 2016

SUMMARYThe results of a genealogical study of human ovarian carcinoma are presented.In this investigation 4160 individuals are included: out of these 1892 belong to 138 proband families (experimental sample) and 2268 to 138 control families (control sample).The following facts clearly emerge:1. There is a highly significant proportion of cancer cases among relatives of the probands.2. The incidence of cancer cases is highly significant either in probands' generation or in parents' and grand-parents' generations.3. The higher frequencies are found in mothers' and sisters' groups.4. The sites preferably interested pertain to the gastro-enteric and genito-mammarian apparatuses. The ovary is relatively highly represented.These facts are an evidence of a not casual aggregation of cancer cases in probands' families. Therefore a family factor must be postulated, at least as a co-factor, in the pathogenesis of the ovarian cancer. Nothing however, may be said, on the basis of this research, about the real nature of that factor, even though the orientation towards the hypothesis of its hereditary nature seems sufficiently founded.
Considerazioni su di una famiglia con Retinosi Pigmentaria e Sindrome di Laurence-Moon-Bardet-Biedl
Authors: Romei L. , Ioli-Spada G. 
Published: July 2016

SUMMARYA recessive pedigree of retinitis pigmentosa and Laurence-Moon-Bardet-Biedl syndrome. The retinitis affects all male children of a normal couple; the only female child shows a complete Laurence-Moon-Bardet-Biedl syndrome. The pedigree of the family shows no other case of the disease in six generations.
Il fenomeno gemellare in Sardegna nella prima metà del secolo ventesimo
Authors: Maxia Carlo 
Published: July 2016

SUMMARYIn a wide survey of twin births which was made in Sardinia, covering the years from 1902 to 1954, it was found that there was an incidence of 9.2 multiple births out of a thousand, which may be considered the lowest for any of the regions of Italy. The survey comprised not only the three provinces, but individual zones which are distinguished by historical and geographical differences.In each of these areas a different trend appeared in what might be termed the twin phenomenon due, obviously, to the characteristic hereditary traits of the population, the degree of isolation and the endogamy which has usually been praticed over a long period.In a commune of Campidano di Cagliari, Serramanna, research was made to ascertain what part heredity played in twin births, with positive results.Furthermore, MZ and DZ twins were studied for the resemblance or non-resemblance in certain characteristics such as the form and colour of the hair, the skin colour, the m.c.c, the colour of the iris.This survey of twins has shown itself to be a truly suitable method for the study of the patrimony of heredity of the Sardinians who are a Mediterranean population which are anthropologically and ethnically a distinct group on their own.
Un focolaio di distrofia muscolare progressiva familiare in Sardegna
Authors: Torrioli-Riggio Giuseppina 
Published: July 2016

SUMMARYThe A. refers a case of a family living in a little country town of Sardinia: five males among 12 siblings are affected by myopathy (pelvic) while only one female shows a doubtful or very early form of it.Parents, grand-parents and relatives are free from muscolar diseases, while among relatives there are four cases of psychopathy, one of mental deficiency, one of epilepsy.The family is described as a case of recessive sex-linked disease with irregular phenomenology in a female.In the same place lives a sporadic case with negative familiarity, which is not easy to discus because only child of two normal parents: anyway it deservers mention because the patient has the same family-name of two members of the case referred above.
Anthropologische Beobachtungen an den Kindern einer Inzest-Verbindung. Das Hautleistensystem
Authors: Weninger Margarete 
Published: July 2016

SUMMARYThe dermatogliphics of an incestuous family (a couple, their daughter and the daughter's 5 children) have been studied. The couple's daughter had 5 children with her own father. Thus the man is the children's father and grandfather at the same time.Compared with the results of monozygotic twins some features of the children's digital patterns are of great similarity whereas other ones differ strongly. The palmar ridge configurations of the children, especially the terminations of the main lines and the interdigital patterns show striking conformity. The children with their mother and father (respectively grandfather) differentiate clearly from the grandmother, above all in the palmar charac-The problem is how to explain the features mentioned above which vary markedly among the children and which show configurations absent in the three ancestors.
Genetische Studien an Zwillingen. A. Morphologischer Teil
Authors: Osato Shungo , Awano Isamu 
Published: July 2016

SUMMARYWe have studied, in this work, environmental variability in twins, including the influence of age on the morphological and functional, physical and psychical characteristics.I. Morphological Characteristics1. For anthropometric measurements, most of the measurements of the cranium and of body lenght reveal a relatively high similarity between MZ twins, i. e. a high hereditary conditioning and low environmental influence. Most measurements of body volume and weight indicate instead a wider percentile intra-pair difference in MZ twins, indicating higher environmental susceptibility. Among constitutional indexes, Pignet-Vervaecksche's index appears to undergo the highest hereditary conditioning.2. The heart, the first section of the aorta, the lungs, thorax and stomach were examined radioscopically. Their shapes appeared largely conditioned by heredity. Their measurements (obtained by telefilms) are, in part, conditioned by heredity.3. The vessels of the retina and the capillaries of the skin are also conditioned by heredity.4. Finger and palm ridges clearly show similarity in MZ twins. Examining MZ twins belonging to different age groups we have found that similarity of finger ridges was higher in MZs between 6 and 8 years of age than in later age groups.5. As for blood cells, their size is largely conditioned by heredity, but also highly susceptible to environmental influences. The Hemogram and the Elmonogram of the leucocytes are, to a certain degree, conditioned by heredity. No clear appraisal could be made of the influence of heredity on the blood platelets count and on the reticulocytes.II. Functional Characteristics6. Body function as a whole.
Considerazioni genetiche sullo sviluppo osseo in gemelli MZ e DZ
Authors: Maltarello A. 
Published: July 2016

SUMMARYRoentgenograms have been taken of the hand and wrist on 58 pairs of MZ twins, on 40 pairs of DZ twins, and on 4 groups of triplets, between 2 and 18 years of age.Their comparative examination has shown the highest concordance in MZ pairs and a remarkable discordance in DZ pairs, accentuated above all in those of opposed sex. Generally, the comparison between male and female pairs of same age has shown a delay on bony growth of the firsts, event remarkable also within DZ pairs of opposed sex.Comparing the Roentgenograms taken with those standard of Greulich and Pyle, generally it is to be remarked that males are retarded in regard to females.Some cases of concordant paramorphysms in healthy pairs of MZ twins and of remarkable immaturity in MZ pairs at the same time sick are also shown.
Ricerche genetiche sulle neoplasie dell'utero
Authors: Emilio Beolchini Pier , Angelo Cresseri , Luisa Gianferrari , Piero Malcovati , Giuseppe Morganti 
Published: July 2016

SUMMARYThe Authors after a brief critical review of the literature on the familial incidence of uterine cancer, refer some clinical and statistical data of the 144 cases of cancer of the corpus and of the 418 cases of cancer of the cervix uteri that have been collected during their work.
Rhabdomyoma of the Heart in Both of a Set of Twins
Authors: Scariano Nicola 
Published: July 2016

SUMMARYA case of congenital multiple rhabdomyoma of the heart in both of a set of twins of like sex is presented. A separated diamnionic dichorionic placenta was found. However because both twins had the same sex, the same color of eyes, the same blood group and very similar plantar prints pattern they were considered MZ. Twin A died after 10 days becouse of intractable heart failure. Twin B died one hour after birth of hydrops fetalis. The autopsies showed the presence of multiple rabdomyoma in the walls of both hearts and in Twin B a widely patent ductus arteriosus. No other extracardiac anomalies were noted. The diagnosis of rhabdomyoma of the heart, as is usual, was not made. It should be suspected in any infant who shows evidence of cardiac disease. On the other hand, this first case, known so far in the world literature of congenital rhabdomyoma of the heart in both twins could be an important contribution to the knowledge of the nature of this so discussed lesion.