bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Heredity of Biological Time and Population Genetics Diabetes, Lupus Erythematosus, and Peptic Ulcer
Authors: Gedda L. , Brenci G. 
Published: July 2016

SummaryThe phenomenon of life, in its individual and collective expressions, develops through a sequence of times resulting from the interference of biological with physical time. While physical time is uniform, the biological one differs from one individual to the other, except for MZ twins.The problem of biological time has been studied in physiology and informational genetics from the viewpoint of its succession of single times, although irrespective of the individual variability in their duration. This variability has already been shown by the authors to be hereditary, its inheritance being directly connected with the hereditary unit.Biological time corresponds to the duration of degradation (“chronon”) of the energy of stability (“ergon”) possessed by the gene and, by extension, to the total chronon of the genotypes underlying a given structure or function. Ergon and chronon are correlated index values, thereby constituting a system (“E/C system”).The individual variability of biological time depends on the A-T/G-G ratio in the DNA molecule, on the different amount of genie redundancy and on the different possibilities of repair of corresponding genes. The variability of these or possibly other causal factors determines the stability with respect to the environment in which the information operates, and especially to mutagenic agents.The authors apply the E/C model to epidemiologic data concerning diabetes, lupus erythematosus, and peptic ulcer, and verify the consistency of the experimental data with the theoretical model.
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis: A New Inherited Syndrome
Authors: Goeminne L. , Dujardin L. 
Published: July 2016

SummaryA kindred is described with a probably new inherited syndrome, involving bilateral congenital hip dysplasia with coxa vara, patella aplasia and tarsal synostosis. This association is probably inherited as an incomplete dominant trait, apparently as a result of a new mutation.In this case a single pleiotropic gene might be held responsible for the multiple skeletal defects.From a bibliographical review, it may be concluded that the nosological association of these multiple defects has never been published so far.
Twins in Sibships with Klinefelter's Syndrome and the XYY Syndrome
Authors: Nielsen J. 
Published: July 2016

SummaryThe frequency of twins and triplets was significantly higher than expected among 56 patients with Klinefelter's syndrome (7.1%), compared with 1.58% in the population (P<0.001), and the frequency of multiple births in the 56 sibships (4.08%) was also significantly higher than expected (P<0.01).One of 15 patients with the XYY syndrome was a twin, and there were 2 twin births among the 53 births in the 15 sibships.
Cromosoma 18 ad Anello
Authors: Ricci N. , Dallapiccola B. , Ventimiglia B. , Preto G. 
Published: July 2016

SummaryIn a girl affected by mental deficiency and slight malformations, a 46,XX, 18r chromosome set was found. Metaphases with irregularly sized or absent rings amounted to 14% in peripheral blood cultures. Tritiated thymidine incorporation pattern in the ring chromosome was similar to that of the normal 18 chromosome.
Sex Differences in Skin Colour in Man
Authors: Kalla A. K. , Tiwari S. C. 
Published: July 2016

SummarySkin reflectances were obtained at 685 mμ wave length from the medial upper arm and the forehead regions among 105 Tibetan males and 105 Tibetan females, in order to study sex differences in human skin pigmentation. The forehead pigmentation of males was always found to be darker than that of females, and the difference to be significant during middle and late adolescence The medial upper arm pigmentation of girls was found to be darker than that of boys, during early adolescence; but during middle adolescence the two sexes exhibited just similar pigmentation and during late adolescence females emerged to be significantly lighter than males. The present study, thus, suggests that one of the factors causing sex differences in human skin pigmentation may be the physiological changes occurring during adolescence, which may be genetically determined.
On the Genetic Etiology of Scurvy
Authors: Stone Irwin 
Published: July 2016

SummaryScurvy, now regarded as a nutritional disorder due to the lack of the trace food constituent, vitamin C, is shown to be the end result of a typical genetic disease. This genetic disease syndrome has been namedHypoascorbemia. Its primary cause is the hereditary lack of — or defect in — the gene controlling the synthesis of the enzyme, L-gulonolactone oxidase. This is a mammalian liver enzyme, the last one in the series for converting glucose into ascorbic acid. Man is one of the few mammals that lacks this enzyme and hence is unable to sythesize his own ascorbic acid. The gene defect occurred during the course of evolution by a conditional lethal mutation. The replacement of the present vitamin C theory regarding the etiology of scurvy by this genetic concept gives important new viewpoints to the quantitative aspects of ascorbic acid in human physiology and also provides new rationales for the use of high levels of ascorbic acid in normal physiology and in the therapy of clinical entities other than scurvy.
Sui Rapporti fra Vizi Cardiaci acquisiti e Gruppi Sanguigni del Sistema ABO
Authors: Gualandri V. , Ballabio A. 
Published: July 2016

SUMMARYA study on the relationships between rheumatic valvular heart diseases and the ABO blood groups has been carried-out on a sample of 1,047 patients distributed, according to their origin, in 10 different areas. A first analysis, accomplished on the basis of this distribution, indicates a highly significant negative association of rheumatic valvular affections with group O, in comparison with all other blood group phenotypes, both singularly or totally considered. It is also shown that no significant heterogeneity exists among the areas. Subsequently, a similar procedure is applied by distributing all the patients according to sex, received therapy (medical or sugical) and previous anamnesis (acute rheumatic fever, repeated acute tonsillitis, no signs). This second part confirms the association of the condition with A, B and AB blood groups, but no heterogeneity is demonstrated among the different classes of the second distribution.
Palmar Dermatoglyphics in Maharashtrians of India
Authors: Bansal I. J. S. 
Published: July 2016

SUMMARYBoth palm prints of 75 ♂ and 73 ♀ unrelated Maharashtrian students aged 8-18 have been collected and analysed according to Cummins & Midlo's methodology. The results are tabulated and discussed.They concern the principal main line formulae and their terminations at Lines D, C, B, A; the distribution of the axial triradius, as well as the frequencies of whorls, loops, arches, vestiges and open-fields in the hypothenar, thenar and in the interdigital areas.
Malformations Complexes des Membres Supérieurs Associées à une Cardiopathie Congénitale. À propos de six observations
Authors: Emerit I. , de Grouchy J. , Laval-Jeantet M. , Corone P. , Vernant P. 
Published: July 2016

SUMMARYThe authors report on six patients exhibiting a congenital heart disease and malformations of the upper limbs. In two of them this association is similar to that described by Holt and Oram in 1960: atrial septal defect, heart arrythmia and abnormal thumbs. The other four patients have the same skeletal anomalies but different heart malformations. Dermatoglyphic studies revealed a high frequency of a distal position of the axial triradius and of an equivalent of a simian crease. The karyotypes are all normal. The etiology is discussed.
Studi Cromosomici nella Sindrome di Turner
Authors: Franceschini F. , Dallapiccola B. , Ricci N. , Ventimiglia B. 
Published: July 2016

SUMMARYCytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.
R-L Symmetry of Cummins' Summational Main Line Index (1936) and Peculiarites of Asymmetric R-L Combinations
Authors: Sharma A. 
Published: July 2016

SUMMARY AND CONCLUSIONDifferential trends of R/L Symmetry as shown by the incidences of Symmetry (S) and Asymmetry (A) in Cummins' summational Main Line Index, as based on the Burman material (400 ♂ & 71 ♀) are slightly higher in females than in males. However, these are not statistically significant.By grouping MLI values in two categories, (a)-5 or 〈 5 and (b)-6 or 〉 6, it is found that MLI values above 6 are largely involved (relative to 5 or 〈 5) in contributing to the incidence of asymmetric R/L combinations of MLI. Further, the male-female differences in the three combinations (a) & (a), (a) & (b), (b) & (b) are statistically significant.
Genetik der Ataxie - Teleangiectasie
Authors: Ferák V. , Benko J. , Čajková E. 
Published: July 2016

SUMMARYThe syndrome of ataxia-telangiectasia was studied from a genetic standpoint on a material consisting of 7 original cases from four families, and of 31 cases from the literature. A cytogenetic analysis in one patient showed the normal diploid chromosome number, while the application of Brugger's test showed a random distribution of affected members in the investigated sibships. The observed frequency of affected individuals corresponds to the one to be expected, assuming a recessive monofactorial inheritance of the syndrome. Considering the small number of consanguineous marriages observed between parents of affected individuals, the conclusion can be drawn that ataxia-telangiectasia is not so rare a condition as it is generally assumed. The responsible gene shows a pleiotropic and lethal effect.
Contributo allo Studio delle Basi Genetiche dell'Ulcera Duodenale
Authors: Remelli L. , Serra A. , Gualandri V. 
Published: July 2016

SUMMARYDuodenal ulcer is a rather common disease, showing a clear family concentration. The aim of this work was to detect, in the etiology of this disease, possible genetic components, and to study their characteristics. The survey has been carried out by analyzing the data collected in 100 families, assembled by starting from a corresponding number of « index cases », and utilizing for comparison and also further analyzing the data by Doll and Buch (1950) and by Doll and Kelloch (1951). The " secondary cases " found, as a whole, were 109 (90 males and 19 females). The results may be summarized as follows:1) the frequency of the disease in the sibships, independently from sex and corrected for age, is of 32.5% ± 2.5;2) the frequency is, however, different in the two sexes. The estimate of this difference has been obtained calculating the relative risk (x) to contract the disease in the males, as compared to the females. Considering all the families together, such risk isx=5.8. However,x=16.7 in the 39 families with both healthy parents;x= 4.0 in the 45 families with the father affected;x= 2.9 in the families with the mother affected;3) though the analysis of segregation ratios would not allow, by itself, definitely excluding the hypothesis of a monofactorial recessive inheritance, many reasons lead to think of a possible case of « simulated mendelism »;4) the application of the methods of analysis proposed and worked out, in their theoretical basis, by Penrose (1953) and by Edwards (1960) for the genetic study of common diseases, makes much more probable the hypothesis that the genetic basis of duodenal ulcer is multifactorial. This does not exclude, however, that some particular environmental factors may increase the phenotypical correlation among the brothers — at least in the material under consideration.Therefore, the hypothesis now allowing the best interpretation of the observations is that duodenal ulcer could be controlled by a number of additive genes with a weak effect.
Su un Caso di Gozzo Normometabolico Concordante in Gemelle Uniovulari
Authors: Macri Corrado 
Published: July 2016

SUMMARYA case of puberal goiter in a pair of monozygotic twins is described. The striking similarity in the clinical and laboratory findings, including the histological pattern, is emphasised. The possibility that an hereditary factor plays a part in the pathogenesis of goiter is discussed.
Genetics of Relative Toe Lengths
Authors: Kaplan Arnold R. , Powell Wilma 
Published: July 2016

SUMMARYTwin and pedigree data are presented which indicate that relative length of hallux and adjacent second toe is based on simple Mendelian genetic factors. The normal anatomical trait involves two alleles and a single autosomal locus. The factor for relatively long hallux is recessive to the one for relatively long second toe. There is no evidence of sex influence. Penetrance is 100%. Expressivity is variable, and bilateral discordance is observed in a minority of heterozygous subjects. In every such case, the dominant genotype is expressed in the right foot. The recessive and dominant phenotypes occur, respectively, in 76% and 24% of the greater Cleveland area Caucasian population. Gene frequencies in this population are 87% and 13%, respectively, for the recessive and dominant allele.
Ricerche sui Cromosomi umani mediante il Test gemellare (I. Determinazione dell'Indice Mitotico in Coppie MZ e DZ)
Authors: Gedda L. , Brenci G. 
Published: July 2016

SUMMARYMitotic induction in human circulating leucocyte cultures has been studied by the twin method. The study of this phenomenon in 20 individuals belonging to 5 MZ and 5 DZ twin pairs shows that its variability depends on the adopted dose of phytohemoagglutinin, and not on the individual genotype, nor on the characteristics of the single pair, or type of zygosity.
Are vital Twins prematures?
Authors: Gedda L. , Milani-Comparetti M. 
Published: July 2016

SUMMARYThe Authors have analyzed the data concerning length of gestation and neonatal weigth and length measurements in 2,440 living twin pairs (from the files of the Mendel Institute), in order to verify the frequent assumption that all twins should be considered as prematures and, as such, affected by congenital debility.Comparing their findings with the standard values for prematures, they reach the conclusion that the majority of twins who have survived the perinatal period were not prematures. Furthermore, the less developed among such twins differ from single-born prematures by reason of their subsequent normal auxologic development, whereby the Authors propose that they should rather be considered as “premature-like”.
Taste Sensitivity to Phenylthiourea among Patients affected with both Tuberculosis and Leprosy
Authors: Beiguelman B. 
Published: July 2016

SUMMARYTaste thresholds for phenylthiourea were measured among 58 Caucasoid subjects affected with both tuberculosis and leprosy. The frequency of non-tasters among them (12.1%) is significantly lower than that found among healthy controls (24.7%) but not different from the frequency of non-tasters among tuberculous patients (14.1%) or leprous patients (19.6%). These results suggest a correlation between taste ability to phenylthiourea and the constitutional susceptibility to tuberculosis and leprosy.
Spectral Characteristics of the Voices of Twins
Authors: Alpert M. , Kurtzberg R. L. , Pilot M. , Friedhoff A. J. 
Published: July 2016

SUMMARYA study is described in which the spectral similarities in the voices of monozygotic, dizygotic and non-twin controls is compared. The results are based on a statistical comparison of the differences between pairs of individuals at a number of spectral points. The data are interpreted as showing that monozygotic twins are more similar in the higher but not the lower spectral ranges. It is suggested that the lower frequencies are more sensitive to transitory factors while the higher frequencies are more likely to reflect anatomic similarity.
Malformazioni multiple degli Arti in due FratelliConsiderazioni Genetiche
Authors: Santori Francesco S. 
Published: July 2016

SUMMARYA sibship is described showing partial aplasias of lower and upper limbs. The concordance of the malformations in the two brothers, the presence in the ascendents of various skeletal and extra-skeletal anomalies, as well as the lack of other causes which could have originated the malformations have made us diagnose the genetic origin of the malformation.
Indagine sulla mortalità dei gemelli nel primo anno di vita: Ricerca anagrafica su 848 gemelli nati a Catania
Authors: Fiumara Antonino 
Published: July 2016

SUMMARYA survey has been made of the birth records of 846 twins (415 pairs and 6 sets of triplets) born in Catania between January 1st, 1959 and May 31st, 1962, with the purpose of establishing the degree of mortality in twins in the first year of life. The results indicate a low degree of still-birth (5%). Identifying the neonatal period with the first week of life, the neonatal mortality is of 8.9%. This percentage undergoes a little reduction (1.9%) when we consider as neonatal period just the first day of life, the twin mortality being lower in the subsequent days of the first week. Except that of the 1st day, the higher frequency of mortality (19%) occurs between the 12th and the 16th day, which is considered a critical period in the first month of life in twins. In the remaining 11 months of the year the mortality degre is low (51 deaths in 680 twins survived to the first month). At the end of the year in 63.1% of the considered pairs both twins were still alive. In six of the 43 pairs with both components dead, both twins died between the 13th and the 25th day, with an interval of 24 hours. The spontaneous death of twin pairs, occurring sometimes simultaneously or with a brief interval in the first month of life, may give rise to judiciary mistakes.
Theoretical and observed Frequencies of Fingerprint Pattern Formulae
Authors: Làzaro C. , Kolski R. , Olaizola L. 
Published: July 2016

SUMMARYA study was made on the frequency of some dermatoglyphic formulae in a sample of individuals of the population of Montevideo.The theoretically expected frequency of the ten most common formulae was also calculated on the basis of the incidence of each pattern per finger in the same population.The comparisons made between observed frequencies and calculated ones show such large differences that they cannot be attributed to chance.Consequently we conclude that the genetical studies of dermatoglyphic patterns should be made for associations of patterns in two or more fingers or complete formulae rather than for individual fingers.
Clinical Genetics
Authors: Gedda Luigi 
Published: July 2016

The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”.
If we were to choose a slogan that would best summarise our work at this Conference, I think we could suggest the following: “Genetics in the Service of Medicine”.
For one third of this Conference's papers, panel discussions, symposia and reports, has dealt with normal man, whereas two thirds considered diseased man. Just as, in Medicine, knowledge of normal man is the natural prerequisite for the understanding of human pathology; so in Genetics, knowledge of the heredity of normal traits, both of the individual and of the population, is the necessary prerequisite for the knowledge of Genetics of human disease.
Genetics dealing with disease now bears a name everywhere introduced and generally accepted: “Medical Genetics”.
The subject of my paper, however, carries a different name: “Clinical Genetics”, and I would now like to justify its choice.
Immunological studies in an isolate in Hungary: Ivád. Frequency of blood groups, saliva secretion and antibody titers
Authors: Backhausz R. , Nemeskéri J. 
Published: July 2016

SummaryData are presented concerning the distribution of the ABO, MN and Rh blood groups and the saliva AB-secretion in the endogameous population ofIvád(Ivády family). Although a greater frequency of the A-, M-, and D-genes was observable, the differences between theIvádyfamily and the surrounding populations from where the family originated, were not significant. Isoagglutinin and bacterial agglutinin titres showed a narrower variation atIvádthan inBudapest. No agammaglobulinaemia or a higher frequency of Rhesus isoimmunization was observable. The most prominent feature of theIvádyisolate was the conservation of the original gene frequencies. The effect of random genetic drift or of selection was not demonstrable as far as the genes investigated are concerned.
Eine neue Blutersippe mit v. Willebrand-Jürgens'scher Krankheit (erbliche Thrombopathie) auf Åland (Finnland)
Authors: Eriksson Aldur W. 
Published: July 2016

SUMMARYAnother family in the Åland archipelago (Fennoscandia) suffering from a hemorrhagic disorder (von Willebrand-Jürgens' disease, heredi tary constitutional thrombopathie) is described. This family, so far the largest in the literature, has many common ancestors with the original bleeder families on Åland described in 1926 by v. Willebrand. Of the more than 1300 kindred traced genealogically, 132 (71 women and 61 men) in the five most recent generations have had manifest bleeding disorders in their medical history. Of the ca. 450 living relatives of this family 211 could be examined, and of these 56 females and 50 males were confirmed to be bleeders anamnestically, clinically or, and hematologically. Several cases were analysed exhaustively by modern coagulation tests. The clinical and laboratory hemostatic findings varied widely both inter- and intra-individually. Some patients showed a partial lack of a plasma factor (AHG) coupled with a qualitative platelet defect. Other patients of this family without bleeding disorders had a markedly prolonged bleeding time. The vascular disturbances also vary widely. The consanguinity in this pedigree is unusually high. The autosomal recessive in heritance are discussed. According to the mendelian segregation ratio, a not sex-linked, dominant transmission of the hemmorrhagic diathesis was in question. I has been possible to observe the hemostatic disturbances in 4-5 generations. The penetration of the gene is high, the expressiveness is unsteady.
Das Tastleistensystem der Hände und die Beugefurchen mongoloider Personen
Authors: Geipel Georg 
Published: July 2016

SUMMARYThe dermatoglyphics of 100 mongol patients from Switzerland were investigated. The results are as follows:1. Worls and arches are more scarce than in normal persons of the European races: 23.7% whorls, 1.0%. arches.2. The very numerous loops (75.3% are frequently steep and narrow, the ridges tender or dissolved into pearls. Strong ridges often seem to be dismembered.3. The ridges of the hands in the distal region want of swing and appear tightly stretched. The main line index (Cummins) reaches 10.15, the highest value so far found.4. The patterns in the balls of the hands are much more numerous than in normal Europeans. The hypothenar pattern is sometimes extremely extended.5. The axial triradius t”, rare in normal persons, is manifested in 80.0%.6. The three and five-finger furrows are in nearly 60.0% changed and form more or less clear a four-finger or ape-furrow.7. In spite of the distinctness of these characters it is not advisable to found the diagnosis of mongolism on them alone; clinical characters are necessary at all events.6 pictures represent the various forms.