bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dermatoglyphic and Skeletal Hand Abnormalities in Turner's Syndrome — A Tentative Scoring Method
Authors: Dallapiccola Bruno , Bagni Bruno , Pistocchi Giovanni 
Published: July 2016

SummaryA scoring method for the diagnosis of Turner's syndrome (T.S.), based on five dermatoglyphic and four skeletal characteristics, showing significant frequency variations between patients and normal females, is presented. The dermatoglyphic characteristics include: total finger ridge count, ab ridge count, maximal atd angle, T line terminating in the second interdigital interval, and presence of hypothenar patterns. The skeletal characteristics include: carpal sign, metacarpal sign, phalangeal sign, and abnormally shaped distal phalanges. Arbitrary score numbers have been assigned to each characteristic, depending on the magnitude of the difference between patients and controls; the partial scores were added up to form the final T.S. score. The diagnostic value of T.S. score has been proved, since it is well separating the patients from normal females. The probability that an individual with a given T.S. score has the Turner's syndrome has been estimated.
Pseudo-Pseudo-Hypoparathyroidism and Basal-Cell Nevus Syndrome
Authors: Goeminne Luc 
Published: July 2016

SummaryA case is described of pseudo-pseudo-hypoparathyroidism, with the following symptoms: round face, large forehead, relative backwardness, short stature, relative obesity, congenital muscular torticollis, cervical fused vertebrae, spina bifida occulta cervicalis, bifid rib, bilateral brachymetacarpy IV. Some of these also occur in the basal-cell nevus syndrome. The patient does not however show a basal-cell carcinoma, nor mandibula cysts.
Essential Isochronic Epilepsy in MZ Twin Pairs
Authors: Gedda L. , Tatarelli R. 
Published: July 2016

SUMMARYA total of 45 twin pairs (19 MZ and 26 DZ), with one or both members affected by essential Generalized Epileptic Attacks, have been drawn out of the Mendel Institute's twin file. Concordance was observed in 18: 19 MZ, but only in 3: 26 DZ twin pairs.Analysis of the 18 MZ concordant twin pairs has shown (1) concordance of clinical form in 17 pairs, (2) concordance in the age of onset in 15 pairs, and (3) concordance of expression (frequency of generalized attacks) in 13 pairs.
Menarche and Menstruation in Various Ethnic Groups in Israel
Authors: Halbrecht I. , Sklorowski E. , Tsafrir J. 
Published: July 2016

SUMMARYSexual development may be influenced by geographic factors (temperature, humidity, altitude, light), socioeconomic factors (nutrition, public health, family size), and genetic factors (population, familial heredity). Most of them are largely interrelated and difficult to define.An anamnestic study has been carried out in Israel on Ashkenazi, non-Ashkenazi, and Arab women aged 19 to 60. The age of menarche appeared to be significantly different for Ashkenazi vs. non-Ashkenazi, while no significant difference was found between Arabs and either of the two Jewish groups. Highly significant differences were found for the length of the menstrual cycle, although this finding should be considered with caution. No significant relationship was found between age of menarche and length of the menstrual cycle.
A Note on the Attempt to Ascertain Inbreeding through Dermatoglyphics
Authors: Arias Sergio 
Published: July 2016

SummaryA study of the anatomical correlation for the fifth-finger ridge count and its ratio to the correspondent correlation of a first degree relative (i.e., between sons and fathers and daughters and fathers) has been carried out in an inbred population of German ancestry living in Northern Venezuela for the last 127 years. This study revealed a remarkable straight relationship of the logarithm of the above ratio to the probability of having both genes at the locus (or loci) identical by descent, for the trait fifth-finger ridge count, i.e., the coefficient of inbreeding. The practical consequences of this finding for the estimation of inbreeding, if confirmed for other populations, are emphasized.
Demographic Characteristics of Multiple Births in Hungary
Authors: Czeizel Andrew , Acsádi George 
Published: July 2016

SummaryIn Hungary the frequency of multiple births has been decreasing. In 1920 the rate of multiple births was 23-5‰; by 1968 this rate decreased to 18.2‰, i.e., only 77% of the 1920 data. The male preponderance in twin births is lower than in single births, and in triplets actually a female excess can be observed. Furthermore, it can be observed that there are more boys than girls among the first-born of multiple births. The average birth weight of liveborn and stillborn twins, and of liveborn triplets is 2101 g, 1458 g, and 1723 g respectively. The ratio of MZ to DZ twins is about 30:70 in 1968. The frequency of DZ twin births increases with maternal age (the peak is now over 40 years) and birth order. According to the 1959, i960, and 1968 figures, both DZ and MZ twin births were significantly more frequent in mothers aged 16 or less than in mothers aged 17-19 years.This demographic survey belonged to preparatory works connected with the setting up of the Budapest Twin Register which came into force on January 1st, 1970.
Chromosomal Survey in 298 Normal Subjects and 1,253 Cases of Congenital Disorders during 1966-1970
Authors: Battaglia E. , Guanti G. , Barsanti P. , Petrinelli P. 
Published: July 2016

SummaryA survey of chromosomal abnormalities has been carried out in Italy since 1966. Among the 1,551 subjects examined, the following abnormalities were found: 2 cases of C/C translocation, 1 of D/C, 5 of D/D, and 9 of D/G; 2 cases of Patau's syndrome with D trisomy; 4 cases of Edwards' syndrome; 176 cases of Down's syndrome, of which 163 with regular trisomy, 4 with mosaicism, 7 with D/G translocation, 1 with G/G translocation, and 1 with C/G translocation; 10 cases with 47,XXY complement; 1 case with 46,XY/47,XXY/48,XXXY mosaicism; 4 cases with 45,XO karyotype; 3 with 45,XO/46,XX, 1 with 45,XO/46,XY, 2 with 45,XO/46,XXr and 1 with 45,XO/46,XXi mosaicism; 2 cases with 47,XYY complement; 2 phenotypic females with 46, XY karyotype; and 5 leukaemic patients with Ph chromosome.Furthermore, several kinds of normal variants were observed, such as no. 9 prominent secondary constriction, chromosome-D or -G enlarged short arm, 16-pair heteromorphism, Y-chromosome polymorphism, and satellited E chromosome.
Y/E Index in a Swedish Population
Authors: Lins Lars-Eric , Sundequist Ulf 
Published: July 2016

SummaryThe Y/E index (Y/16-18 chromosomes) has been studied in a Swedish population of 74 men. The following results have been obtained: M = 0.734 ± 0.0238 with a range from 0.57 to 0.90. The values agree well with those of a Finnish population previously described. The use of the Y/E index in 15 paternity cases is exemplified.
Chlormadinone-Induced Changes in the Proliferative Activity of Ehrlich Ascites Tumour
Authors: Gedda Luigi , Cardinali Giuliana , Cardinali Giuseppe 
Published: July 2016

SUMMARYThe effect of Chlormadinone on the proliferation of Ehrlich ascites tumour was studied by employing the stathmokinetic method. In a high percentage of female mice carrying the tumour and treated by Chlormadinone an increase in tumour cell proliferation was observed, while in a few animals the proliferative activity was decreased.No significant changes were observed in tumour cell proliferation in the male mice.
Epidemiologic Study of Leukemia in Twins (1928-1969)
Authors: Keith Louis , Brown Eric 
Published: July 2016

SUMMARYA review of 62 cases of leukemia in twins reveals most cases occurred in MZ twins, although diagnosis of zygosity was at times admittedly questionable. Concordance was clearly highest in MZ twins of the perinatal-congenital period. This tendency was not maintained at later stages of life.The older concept of a human placental barrier has been greatly modified. Tracer substances have demonstrated that leukemic cells pass the placental barrier. Materno-fetal transmission of leukemia is well known; all forms of murine leukemia can be transmitted similarly from generation to generation. Certain requisites effect the transmission of neoplastic-hematopoietic disease during pregnancy. Rare cases are reported of pregnant women with leukemia who bear children in whom clinical leukemia subsequently develops. The maternal diagnosis was made at the time of, or shortly after, delivery, suggesting an evolution of the maternal disease late in pregnancy.That both partners of a pair of twins, either MZ or DZ, can become ill with leukemia within days or months of each other, appears more than coincidental. Chromosomal defects, common environmental factors, and conjoined intrauterine circulations may be important in the transmission of leukemia from one twin to another, a theory supported by the frequent concordance during the first year of life.
Werdnig-Hoffmann-Wohlfart-Kugelberg-Welander Disease: Nosological Unity and Clinical Variability in Intrafamilial Cases
Authors: Ghetti B. , Amati A. , Turra M.V. , Pacini A. , Vecchio M. Del , Guazzi G.C. 
Published: July 2016

SummaryTwo members of an Italian family are affected with progressive spinal muscular atrophy. One, a male, has had the disease since his early infancy and, though severely disabled, is still living at the age of 13. In his sister, the first symptoms appeared at the age of 15, and the disease seems to be rapidly advancing. Their parents were consanguineous. Their mother, however, married twice, her second marriage being nonconsan-guineous and producing no affected children.The study of this family and an analysis of the literature led to the following conclusions: (a) early onset of the disease does not necessarily mean that the course will be malignant; (b) the disease usually has a similar onset and course in subjects belonging to the same family.In many families, however (and these have been examined in the present paper) malignant Werdnig-Hoffmann disease is found to coexist with the Werdnig-Hoffmann disease with a prolonged course, the Wohlfart-Kugelberg-Welander disease with infantile onset, and the Wohlfart-Kugelberg-Welander disease with juvenile onset. We feel, therefore, that from a genetic point of view all these forms should be included into one and the same group.
An Analysis of Several Slide Preparation Techniques for Human Peripheral Blood Cultures
Authors: Jenkins Edmund C. , Weed Richard G. 
Published: July 2016

SummarySeveral slide preparation procedures were studied in order to render a semiquantitative indication of an optimum technique or techniques, concerning the over-all cytological quality of the chromosome spreads effected by each technique. A method of scoring for karyotypically analyzable spreads is given. It is concluded that one of the techniques (technique D) be utilized for routine karyotypic studies while a combination of two of the techniques (techniques D and E) should be employed for more extensive studies.
Marriages of Twins to Twins
Authors: Taylor Charlotte C. 
Published: July 2016

SummaryFifty marriages of twins to twins have been studied. Most of them have the characteristics of MZ twins. All have an identical outcome of their marriages within each set. This finding and others from the literature are consistent with the idea that marital stability depends in part upon one's original “blueprint” for physical and emotional health.Two findings in this study, and others from the literature, are consistent with the idea that similarities at the chemical level may in general tend to promote a better understanding of each other and hence more congenial relationships: (a) all but one of the twin foursomes have lived closeby; three-quarters of them share the same house, even after they have had children; and (b) there is some degree of similarity in the ABO and Rh blood groups between husbands and wives in this sample.The stably-married twins knew each other for an average of four years before marriage, whereas the divorced and annulled ones met only a few weeks or months before marriage.
Familial Progressive Myoclonic Epilepsy (Unverricht-Lundborg syndrome in five families from the Valais canton)
Authors: Rallo Eduardo 
Published: July 2016

SUMMARYAfter a historical review of the problem of progressive myoclonic epilepsy, the author makes a detailed clinical and genetic description of 5 families from the Valais canton, affected with the disease. The metabolic disturbances observed in these cases (urinary elimination of mucopolysaccharides) are given particular attention. The author further discusses the various classifications of myoclonic epilepsy which were established on the basis of clinical symptomatology, electroencephalographic tracings, pathological anatomy and biochemical findings.
Genetic Studies on Congenital Aural Fistula
Authors: Gualandri V. 
Published: July 2016

SUMMARYA research has been carried out on a sample of 29.309 Milan school children. Among them, 321 carriers of congenital aural fistula (FAC) have been found. Pedigrees could be drawn in 93 cases, covering three generations and including as collateral branches families of uncles and aunts. According to Smith's test (modified) the trait appears to be inherited as an autosomal dominant, with a penetrance of 85%. The phenotypical frequency (genetically controlled, i.e. excluding phenocopies) is of 1%, while the gene frequency may be estimated around 0.5%.
Some Remarks on the Genetics of Leprosy Resistance
Authors: Beiguelman B. 
Published: July 2016

SummaryThe mechanism and the familial pattern of the late lepromin reaction (Mitsuda reaction) have been discussed. The interpretation of the familial correlation as mainly depending on a pair of allelic genes has been analysed thoroughly. A new technique has been described for identifying constitutional resistance or susceptibility to leprosy at anin vitrotissular level. The possibilities of this technique have been stressed.
Karl Landsteiner: Father of Blood Grouping and Immunochemistry
Authors: Wiener A. S. 
Published: July 2016

It was on June 25, 1943 that the world lost a great mind and a great medical scientist, when Dr. Karl Landsteiner succumbed to the effects of a heart attack that had overtaken him two days before while he was actively at work in his laboratory. He had just passed his seventy-fifth birthday of a lifetime devoted to fundamental research. Shortly before his death he had completed the second edition of his classic book, “The Specificity of Serological Reactions”, and he had also published almost 350 scientific papers describing the results of his pioneering investigations. This year is the centenary of the birth of Karl Landsteiner, and it seems fitting at this time to pay tribute to this genius and benefactor of mankind by reviewing some of his great discoveries.Of Dr. Landsteiner's discoveries, the one that has captivated the popular imagination the most is his discovery of the A-B-O blood groups, frequently called the Landsteiner blood groups in his honor. At the beginning of the present century, it was recognized that bloods from animals of different species could be distinguished from one another by their serological reactions. For this reason, the use of animal blood for transfusions to human beings was abandoned, but the frequent serious reactions that followed transfusions of blood from one human being to another still remained unexplained. Landsteiner then tested the blood of workers in his laboratory by mixing serum taken from one individual with the red cells of others. He found that instead of the weak or negative reactions that might have been expected, in some combinations strong agglutination of the red cells occurred, while in other combinations no effect was apparent.
Fingerprints and the Diagnosis of Zygosity in Twins
Authors: Parisi P. , Bacco M. Di 
Published: July 2016

SummaryA twin study was undertaken with the twofold aim (a) of studying the hereditary behaviour of digital dermatoglyphic traits both at the qualitative and quantitative level, and (b) of working out a method for discriminating MZ and DZ twins by means of fingerprints.Fingerprints of 50 MZ (25 ♂ and 25 ♀) and 50 DZ (25 ♂ and 25 ♀) twin pairs were thus examined and analyzed by means of a special methodology and of a 7044/K32 IBM computer.The qualitative analysis has shown a significantly higher concordance in MZ than in DZ twin pairs, with a certain variability of single finger concordance values. The quantitative analysis has shown significantly higher correlation values in MZ than in DZ twin pairs, with very limited confidence intervals in the former. Single ridge counts apparently behave as cumulative counts on the five or ten fingers, although with an obviously higher random variability.Digital dermatoglyphics thus appear to show practically complete genetic conditioning, which, rather than at a cumulative level for the ten fingers, as is largely believed, appears to act on single finger quali-quantitative traits. The total finger ridge count, rather than a trait, only appears to be a useful, but artificial cumulative value. Actually, applied to the diagnosis of zygosity, it provides, by itself, a fairly high, general probability (0.86) of a correct diagnosis.
Twins and Klinefelter's Syndrome
Authors: Nielsen Johannes 
Published: July 2016

SummaryA multiple birth frequency of 5.59% has been found in 25 Klinefelter sibships, which is statistically significantly higher than expected (P < 0.001).A family investigation of a patient with Klinefelter's syndrome, who is a triplet himself, revealed 5 twin births and 2 triplet births in three generations.The mortality of the 19 children from the 9 multiple births born in the 25 Klinefelter sibships was 53% up to the age of 3. Such a high mortality indicates that some of the twins and triplet births might have suffered from chromosome disorders contributing to the high mortality.If the comparatively high frequency of twins in the sibships with Klinefelter's syndrome as well as Turner's syndrome is confirmed by further studies, this will indicate a relation between the cause of sex chromosome non-disjunction and multiple births or between the predisposition to non-disjunction and multiple births.
Palm Prints The Patterns in the Interdigital Spaces
Authors: Brismar B. 
Published: July 2016

Summary1. The author has worked out a new systematics for the interdigital patterns of the palm based on the building up of digital triradius 3 and the extension of main line C with the following types of pattern as result: U (ulnar loops), R (radial loops), O (open-field pattern) and V (vestiges — incomplete patterns or “special” patterns).2. A significant difference in frequency for the pattern distribution between the two hands has been found for U, R as well as for O-patterns (U-patterns and O-patterns appear with 6.5 respectively 14.3% higher frequency on the left hand, while R-patterns appear with 20.2% higher frequency on the right hand.).3. The pattern distribution does not show any difference between the two sexes.4. Calculations of correlations in tetrachoric tables have shown a strong mother-child correlation on the 99.9% level for U-pattern set against R-pattern for both the right and the left hand (r = 0.39-0.43).
Genetic predisposition to tuberculosis (A study of 447 pairs of affected brothers)
Authors: Gedda L. , Volta S. , Bresadola R. , Brenci G. 
Published: July 2016

SUMMARYThe study of the clinical material concerning the patients hospitalized at the Rome Forlanini Sanatorium during 25 years has indicated 894 patients of postprimary pulmonary tuberculosis, constituting 447 pairs of single-born brothers (♂♂ or ♂♀ or ♀♀).The above pairs have been studied from the standpoint of their concordance with respect to the following three clinical parameters: (i) age of onset of postprimary tuberculosis; (ii) clinical form of the reinfection; (iii) pulmonary localization of the tubercular process. Such parameters were studied in the case of the brothers living together, as well as in the opposite case.On the basis of the statistical analysis of the results, the AA. conclude for the existence of a tubercular predisposition in terms of a hereditary trait significantly influencing the course of postprimary tuberculosis with respect to both onset and localization, and especially to the clinical form. The clinical parameters appear to be more concordant, though in a statistically nonsignificant way, when the two affected brothers lived together.The family and individual variability of the predisposition to pulmonary tuberculosis appears to be demonstrated. According to the AA., such predisposition would be inherited through a multifactorial mechanism.
«Gc» system in the Italian population
Authors: Spedini Gabriella 
Published: July 2016

SUMMARYPhenotypic and gene frequencies determination of the Gc-system in 103 Italian subjects (Rome). Phenotypes: Gc 1-1, 56.31%; Gc 2-2, 5.82%; Gc 2-1, 37.87%. Genes: Gc1, 0.7525; Gc2, 0.2475. Comparison with the data for Europe and other continents. The phenotypic frequencies have been projected on a system of triangular coordinates.
From Gregor Mendel to Medical Genetics
Authors: Gedda L. 
Published: July 2016

While I receive, with great joy and pride, the honorary degree of this University, commemorative celebrations to honor the Bohemian scientist Gregor Mendel are being held in the Czechoslovakian town of Brno.One hundred years ago, Gregor Mendel announced his discoveries concerning the hybridization of “pisum sativum”, and opened to science the way to understand the principles underlying modern Genetics. I feel it my duty to recall with admiring devotion this great man, whose name is just as much connected with Biology, as Galileo Galilei's name is linked to Physics. All the more so, because the honorary degree conferred on me by the President and the Professors of Villanova University is a doctorate in Natural Sciences.Two other reasons prompt me to recall the work of Mendel. One is that Gregor Mendel was an Augustinian monk, and such an exemplary one indeed, that he directed the Brno Monastery as Abbot from the forty-sixth year of his life to his death. In a personal letter addressed to the Augustinian General, Father Luciano Rubio, on the twentieth February of this year, Pope Paul the Sixth stressed the significance of the fact that the Augustinian Order had given to the Church and to Science such an eminent man. Now, there is no better place to recall the religious gifts and the scientific genius of Gregor Mendel than your University, founded and directed by Augustinian Fathers.
Immunogenetical Considerations on Corneal Transplantation
Authors: Gedda L. , Milani-Comparetti M. 
Published: July 2016

SUMMARYA case of bilateral clouding of corneal homografts in a 24-year-old woman 8 and 9 years after the respective operations, coincidentally with the second month of pregnancy, leads the Authors to a series of considerations and hypotheses on the immunological aspects of keratoplasties.Differential diffusion of antigens to reach the antibody-forming sites, and of antibodies to reach the antigenic loci on the graft, through the endothelial barriers and the stromal layers, is held responsible for the peculiarities of corneal graft survival, especially in view of the different molecular sizes of antibodies and in connection with primary and secondary immunization. A series of experiments is currently being carried out to test the various hypotheses.