bluuebunny/crossref_metadata_2025 huggingface dataset:
Psychological Follow-up Study of Twins from Birth to Five Years
Authors: De Coster W. , Lerou J. , Dutoit C. , De Zutter M. , Derom R. , Thiery M. , Vandierendonck A.
Published: January 2025

Classical psychological twin studies have yielded in part equivocal and sometimes contradictory results. Besides the complexity of the problem, the delicate character of the diagnosis, and the rudimentary tools which were used, several other factors are underlying this situation: (1) insufficient systematization of the set-up and the careless design of the investigations; (2) lack of follow-up studies; (3) uncertain diagnosis of zygosity; in MZ twins no attention to the age of the ovum at the time of cleavage; (4) lack of consideration for antenatal and perinatal influences; (5) no attention to the typical circumstances linked to the twin situation. All this makes it difficult to balance nature against nurture on the basis of comparison between MZ twins, DZ twins, and singletons. Interactions may also appear between the effect of twinning and other factors such as the socioeconomic circumstances. A new investigation was therefore started where, besides the twins, a group of matched control singletons was constituted. The follow-up study is now completed up to the age of 5 years in 13 MZ and 20 DZ twin pairs (+ controls, that is to say, 99 children).

The children were observed and subjected to psychological tests at the age of 6 months and of 1, 2, 3, 4, and 5 years.
Twin Resemblances in Creativity and in Esthetic and Emotional Expression
Authors: Barron Frank , Parisi Paolo
Published: January 2025

Three sources of observation relevant to the measurement of individual differences in emotional and esthetic expressiveness were employed to study their heritability by application to a sample of some 60 pairs of young adult like-sexed twins, approximately evenly divided between male and female and MZ and DZ pairs. The sources of observation were objective test performances, trait ascription using a standard list of adjectives, and videotaped enactments of mood and esthetic performances. Perceptual and esthetic abilities do appear to have substantial heritability, although esthetic preferences do not. Heritability is also indicated for such adjectives as artistic, inventive, original, and independent. Ratings of the videotape performances yielded somewhat ambiguous results, due to the presence of a marked halo effect; the most likely interpretation congruent with earlier results is that greater MZ twin resemblances in social extroversion generated greater resemblances in the videotape situation on such other trait-rating variables as creativity, naturalness, and dominance.
The Role of Genetic Factors in the Child Drawing Behavior - A Preliminary Twin Study
Authors: Candelori Carla , Ferraris Anna Oliverio , Parisi Paolo
Published: January 2025

A sample of 27 MZ and 32 DZ twin pairs, aged 6 to 12 years, has been tested with the Draw A Family Test. Significantly higher concordance values in MZ than DZ twins have been found with respect to some graphic-structural factors (i.e.: line, hand pressure, area of the drawing, dimensions of the figures, distribution, and shading) as well as with respect to contents factors, such as spatial representation and cotwin's valorization. These correlates of personality development would thus appear to undergo significant genetic conditioning.
Characteristics of the Twins of Schizophrenics as Fallible Indicators of Schizoidia
Authors: Gottesman I. I. , Shields J. , Heston L. L.
Published: January 2025

Further advances in research into the etiology of schizophrenia will depend on the identification of an unambigous indicator of the genotype associated with the development of schizophrenia. Such an indicator would permit accurate assessment of the relatives of probands as “affected” or not, so that the data generated in twin and family studies could be tested for the best fit to various genetic models that have been proposed. Schizoidia or schizoid personality has been considered by clinicians to be such an indicator, but it has been beset by semantic and logical difficulties. Most troublesome has been the extent to which the concept implies (merely) a phenotypic resemblance to schizophrenia, or a genotypie connection with it, or both. Four different but overlapping meanings for the concept of schizoidia are presented, in an effort to clarify the semantic and logic involved. Following Popper's notions about the testability and refutability of theories, the authors, identified with both monogenic and polygenic theories, apply the definitions to their first-hand observations of the cotwins in the Maudsley-Bethlem Schizophrenic Twin Study. Pushing the concept to its limit, 91 % of 22 MZ pairs and 45% of 33 DZ pairs contained “disordered” cotwins.
Embryonic Determination of Brain Programming Asymmetry - A Neglected Element in Twin-Study Genetics of Human Mental Development
Authors: Boklage Charles E.
Published: January 2025

Departures from the usual human brain asymmetry, manifested in unusual laterality of motor dominance and/or speech representation, seem to have some genetic basis, and have been found associated with: schizophrenia, epilepsy, alcoholism, dyslexia, dysphasia, autism, and mental retardation. This can also derive from embryonic disturbances, as evidenced by excessive association with: first births, late births, birth difficulties, and twinning. MZ twins develop from embryos which have often split after at least some commitments to the cellular development of bilateral symmetry have been made. The effects of such a split are visibly recorded in mirror-imaging, in tooth emergence patterns, in shapes of mouth, nostrils, eyes, and ears, in hairwhorl placement and pattern. Brainfunction laterality is also found to be subject to mirror-imaging.

Data from the 1972 publication of the Gottesman and Shields genetic twin study of schizophrenia serve to illustrate the power of the neglected embryonic discriminator: Fully one-third of their MZ schizophrenic sample {nearly ten times the best population estimate) were characterized as lefthanded or ambidextrous. If the sample is divided between pairs with and without any sign of laterality disturbance, the results are very strikingly altered. The pairs with no sign of laterality disturbance are 88% concordant, whereas unusual laterality pairs are 24% concordant. Several severity indicators are in excess, by ratios of 2 to 10-fold, among the RH pairs. Nuclear subtypes are (2.5) times as frequent, and schizoid premorbid personalities are twice as frequent, among the RH pairs.
Twin Studies in Medical Genetics
Authors: Propping P. , Vogel F.
Published: January 2025

It is the aim of twin studies to obtain results which are not only valid for twins, but apply to the whole population. Therefore the following questions have to be answered first: do twins differ from non-twins in the trait under study? Do different nongenetic factors act upon MZ and DZ twins which alter the probability of manifestation of a trait, even before birth? There are important differences in embryogenesis and placental blood flow in mono- and dichorionic twins; this can influence the normal fetal development. Therefore the value of twin studies alone in analysing the genetic component in the etiology of congenital malformations is rather ambiguous. Twin studies beyond the newborn period can be classified into four approaches: (1) Case reports; (2) Accumulated case reports; (3) Limited representative sample; (4) Unlimited representative sample. The most frequent systematic method in medical genetics is the establishment of all twins in a defined population of probands (3). Another successful application in the last few years has been in pharmacogenetics. Although no simple mode of inheritance could be discovered, it was possible to estimate the genetic component within the interindividual variability of the metabolism of certain drugs (nortriptyline, antipyrine, phenylbutazone, ethanol). Now, additional non-twin research is needed to work out single factors within the observed polygenic systems.
Etudes Gemellaires Dans La Genetique Clinique: Le “Clinical Cotwin Method”
Authors: Gedda L.
Published: January 2025

The purpose of this review is to bring out the clinical value of a twin pair, when a disease strikes one or both partners. A “Clinical Cotwin Method” is thus described.

In the case of concordant disease in MZ twins, the points of interest suggested by this method are the study of (1) the etiopathogenesis of the disease; (2) the genetic variability in the manifestation of such disease; (3) the variability of expression of the morbid genotype; and (4) the chronogenetic variability, that is, the possible difference between times of onset of disease, of its symptoms, and of its outcome. In the case of discordant disease in MZ twins, either one twin is ill and the other healthy, or else, twins have two different diseases. In the first case, the clinician finds an excellent basis of comparison in the healthy twin, which allows him to extend his knowledge of the morbid phenotype and to discover minimal symptoms which would otherwise go unobserved. In the case of two different diseases which strike MZ twins simultaneously, comparative analysis of the general symptoms is possible, which allows a deeper knowledge of the etiopathogenesis of the morbid processes. DZ twins also are of high scientific interest because their semiequivalent genotypes have simultaneous times of departure. This situation differs from that of full sibs and that of half sibs; it is also very useful to analyze the disease that DZ twins face in the same physical time. Both twin care and scientific research can be greatly helped by hospital department of twins, as well as outpatient departments or consultants for occasional and routine visits.
Coronary Heart Disease in Male Twins - Seven-Year Follow-up of Discordant Pairs
Authors: Liljefors Ingvar
Published: January 2025

In an investigation in 1967 of about 100 male twin pairs collected from the Swedish Twin Register, discordance with respect to the presence of CHD was found in 37 pairs of which 19 were MZ. The investigation included physical examination, cholesterol measurements, and an interview regarding, among other things, smoking habits. In a follow-up study in 1974 — seven years after the original investigation — all but one of the 37 twins regarded in 1967 as free from overt CHD could be traced. Ten of the 36 twins had developed symptoms of overt CHD (angina pectoris or infarction); 18 twins were still healthy, 2 had died from other causes, and 6 had questionable complaints of breast pains. In a comparison of the two groups of twins with and without symptoms of overt CHD, no differences were found with respect to blood pressure, serum cholesterol, or smoking habits, as presented at the 1967 investigation. It is concluded that none of these factors seemed to influence the future development of CHD in twins apparently tainted with a heredity for this disease.
A Genetic Study on Deaf Twins
Authors: Horiuchi Masatoshi
Published: January 2025

A clinical and genetic study on 25 twin pairs with at least one deaf member was performed. Concordance rate of hearing loss was 0.88 in MZ and 0.50 in DZ pairs, with an almost complete penetrance (P = 0.94). Consanguinity was found in 32% of cases, corresponding to five times the average population rate in Japan.
Twin Pregnancy as a High Risk Pregnancy: New Medical Statistical Data from the German Democratic Republic
Authors: Leetz Inge
Published: January 2025

In 1972 the rate of multiple births showed a much more substantial decrease than in the years before. In the period 1963-1971 it dropped from 20.3‰ to 19.3‰ and in 1972 to 18.3‰. The frequency of low birth weight in children from a multiple birth is 10 times higher than in all newborn children and the early neonatal mortality of children from a multiple birth is 8 times higher than that of all newborn infants. Cerebral damage is 30 times higher in children of low birth weight than in children of normal birth weight. In the period 1965-1967 perinatal death associated with cerebral damage (recorded on the death certificate) accounted for 5.7% of all children of low birth weight and for 0.2% of children weighing at birth over 2500 g. Eearly diagnosis of multiple pregnancy and early in-patient care of women with multiple pregnancy will improve the development of multiple fetuses and give children from a multiple birth much better chances in life. In all twin studies it has to be considered that a relatively high proportion of twins is affected to a higher or lesser degree by cerebral damage.
Ritodrine Hcl for the Prevention of Premature Labor in Twin Pregnancies
Authors: Cetrulo C. L. , Freeman R. K.
Published: January 2025

The perinatal mortality rate for twin gestation is in the range of 15 %, and this is due predominantly to prematurity, although twins may also be born growth retarded. Ritodrine HCl, a beta sympathomimetic drug, has been shown to be effective, both in stopping premature labor and in preventing intrauterine growth retardation. With this in mind, a double-blind study using ritodrine HCl or placebo was begun in order to study its effect on premature labor, intrauterine growth retardation, and the perinatal mortality rate in twins. Thus far, 30 patients have delivered and have been followed to 6 weeks postpartum. Although the results on individual patients have remained blinded to the investigators, an initial evaluation of the ritodrine and placebo groups have revealed no difference with respect to gestational age, birth weight, or perinatal mortality. These preliminary results are not significant. However, it appears that ritodrine HCl is a safe oral agent for the antepartum gravida and her fetus. The study will be continued until approximately 100 patients have been enrolled.
Hypothesis of an Ovular Regulation of Pregnancy Weight-Gain
Authors: Papiernik E. , Gerard L. , Hult A. M. , Schneider L.
Published: January 2025

A retrospective study of 127 twin pregnancies has been carried out, considering the relation between maternal weight-gain and zygosity of the ovum. At 28 weeks of gestation, the maternal weight-gain distribution goes on according to a bimodal curve, the analysis of which shows that each pike corresponds to one twin-pregnancy variety. Whatever the considered term might be (28-32-36 weeks), the maternal weight-gain is higher in DZ than in MZ pregnancies, and it should be pointed out that toxemic pregnancies, in each group, have nothing to do with this difference. This maternal weight-gain difference may reflect the known quality difference between MZ and DZ ova. The data lead to set up the more general hypothesis of an ovular regulation factor of the maternal weight-gain, in addition to classic data such as the own fetal weight, its annexes, and maternal diet.
The Twin Condition and the Couple Effects on Personality Development
Authors: Zazzo René
Published: January 2025

Twin psychology has been studied to a very limited extent. Only few remarkable peculiarities of the twins' development are known for sure, such as delayed intellectual development, language retardation with frequent cryptophasia, difficulties and fragility of self consciousness, reduced sociability. These and other peculiarities may result from a number of different factors: biological, peculiar parental attitude, and especially the twin situation itself, the psychology of the twin as an individual being a function of the psychology of the twin pair. Twin peculiarities have for a long time been ignored. On the one hand, psychology ignored the couple reality (it was a “one-body” psychology), and on the other, the twin method classically postulated that twins are not atypical and may therefore be used as a test for the general population. As a matter of fact, twin psychology opens a new way to science. The twin situation may serve as a paradigm for the general study of the couple effect, namely, for the objective analysis of personality as a consequence of the relations between self and others. For certain traits of personality, it is already known that MZ twins brought-up together are significantly less similar than MZ twins brought-up apart. In fact, couple effects may mask or considerably reduce genetic factors.
The Process of Identity in Twins
Authors: Cirillo S.
Published: January 2025

The Blacky Picture Test was administered to a sample of 12 pairs of male MZ twins, aged 17 to 19 years, and to an equal number of singletons. A score for 30 factors was assigned to each protocol. By comparing the scores of the two groups using the Mann-Whitney U test, only one significant difference emerged, relative to the factor concerned with positive identification and fraternal relationship. Twins chose the sibling figure as the identification object significantly less often than singletons did. A more qualitative elaboration was undertaken in order to interpret this result. From the final data, the pre-cariousness of the sense of identity in the twins comes out indirectly in their passive and conformistic acceptance of the paternal model. It would seem that the twin is induced by his relationship with his cotwin, seen as the origin of this uncertainty as to his own identity, to adhere closely to the paternal image.
Language Development in Young Twins: Biological, Genetic and Social Aspects
Authors: Mittler Peter
Published: January 2025

The present study has confirmed previous evidence that young twins show a marked delay in language development. This delay averaged six months at the age of 48 months, compared to a control group of singletons; it was evenly reflected in all nine subtests of the Illinois Test of Psycholinguistic Abilities, and was shown equally in MZ and DZ twins. Biological variables such as birth weight, gestational age and reproductive complications were only weakly associated with language scores at four years. The twins were not significantly retarded on non-verbal tests of general intelligence, compared with population norms or with the singleton controls. Environmental factors, particularly social class and family size were strongly correlated with language scores, though the association was stronger in singletons than in twins. Middle class twins were relatively much more retarded in language development compared with middle class singletons than working class twins compared with working class singletons. Comparison of intra-class correlations between 28 MZ and 64 DZ pairs yielded a heritability index of 44% for the test as a whole, with considerable variations in h2over the nine subtests. Heritabilities were highest for tests sampling the visual motor channel, and lowest for tests on the auditory-vocal channel. In confirmation of this finding, an examination of the test profiles of the singleton controls suggested that social class differences were most marked on tests of the auditory-vocal channel. It is suggested that the latter are more susceptible to environmental variables.
Specific Language Disorders in Twins During Childhood
Authors: Levi Gabriel , Bernabei Paola
Published: January 2025

The delay in the development of the language often found in twins is usually interpreted as being strictly connected with the twinning situation and on the assumption that a model of verbal, tendentially crypto-phasic, communication would more easily exist between twins. Two types of language pathology in twins, diverging from this classic framework, are presented: (1) Developmental dyslalia (or developmental dysarthria); in these cases no abnormality could be found in the modality of verbal communication between the cotwin; (2) Developmental dysphasia; in these cases not only no tendency toward cryptophasia was observed, but indeed the verbal communication between the twins was markedly reduced. These two types of language disorders, as well as the classic one, are discussed in the light of a neurolinguistic interpretation.
Stuttering and Tics in Twins
Authors: Godai U. , Tatarelli R. , Bonanni G.
Published: January 2025

A total of 63 twin pairs (22 MZ and 41 DZ), with one or both members affected by not organic stuttering and/or tics, have been drawn out of the Mendel Institute's twin file. Concordance of stuttering was observed in 10:12 MZ, but only in 2:19 DZ twin pairs; concordance of tics in 6:10 MZ and in 2:22 DZ twin pairs. Stuttering did not come out significantly associated either with other disturbances of language or with an IQ under the average; almost always it was possible to find out a precipitating factor. Significant relations between stuttering and tics could not be stated. Sex ratio, obtained regarding any affected subject separately, clearly turned in favour of males both in stuttering (32:12) and in tics (27:12). Stutterers and left-handers incidence in the families of stuttering subjects appeared significant in comparison with families of subjects with tics.
Intellectual Development of Twins — Comparison with Singletons
Authors: Myrianthopoulos Ntinos C. , Nichols Paul L. , Broman Sarah H.
Published: January 2025

Analysis of mental and motor tests scores and intelligence test performance of twins born in the Collaborative Perinatal Project shows that twins perform more poorly than singletons from the same population and that the differences are greater in Negroes than in whites. The poor performance of twins relative to that of singletons is of complex etiology. It is partly due to poor prenatal environment, for twins brought up as singletons perform at the intelligence level of twins and not of singletons. It may also be partly due to the higher incidence of congenital malformations in twins, especially those of the central nervous system. But the performance of twins, relative to that of singletons, tends to improve as they get older, at least from 4 to 7 years, suggesting that prematurity is also a contributing factor, whose detrimental effects may be reversible.
Psychopathologic Problems in Twins During Childhood
Authors: Bernabei Paola , Levi Gabriel
Published: January 2025

Some Psychopathologic problems occurring during childhood in twins are discussed from the point of view of mental health. On the basis of case history of twins affected by neurologic or psychiatric disorders some typical situations have been examined: (1) Psychopathologic problems arising from perinatal death of the cotwin; (2) Psychopathologic problems arising from the death of the cotwin during late childhood; (3) Psychopathologic problems arising in the pair from organic or neuropsychaitric event in one of the twins; (4) Psychopathologic problems of the twins due to disorders of personal identity and the interaction between the twins. The cases are analyzed from a psychodynamic point of view, in relation to the development of personality in the twins, and from a psychosocial point of view, in relation to the cultural stereotype of the twins during the socialization process and in the context of parental dynamics.
The Threefold Cord of Mothers of Twins Clubs
Authors: Maxey Joyce E.
Published: January 2025

Local, State and National are the threefold cord that binds us together at Mothers of Twins Clubs. Local, State and National share a mutual responsibility and interdependence with one another. This threefold cord helps us to grow and develop our potential for the benefit of all. It is cooperation between the three levels that unites us and though each serves in different ways, each is vital to the full scope of Mothers of Twins Clubs.

On the Local level we realize that research is the responsibility of every member and some clubs have research participation as a requirement of membership. Researchers could insure greater participation if they would issue periodic progress reports. Though we realize research is a long, slow process, we are often asked, “Why fill out forms if we never hear what is done with them?”. Mothers of Twins Clubs are glad to make time for research if they are made to feel it is worthwhile. Since some clubs belong to State or National, while others belong to State and National and still others belong to neither State or National, research work on the Local level has different outlets. The prime concern of the Local Mothers of Twins Club however is to learn to raise our twins as individuals while respecting the bonds and blessings of twinship.

The bridge of States is loosely knit with great resources still untapped for research. The growing number of State groups and the ever changing needs of Locals require the combined efforts of State Mothers of Twins Clubs to participate in Interstate communications and cooperation. There are 20 State groups in the U.S.A., representing over 303 clubs and over 9275 members. Most of the State groups have their own Research Chairman and Twin Registry. Those States without a Research Chairman are for the most part new groups and plan to participate in research when they are able. Even now State Mothers of Twins Club is being worked on by a group in Canada. Since more mothers can attend a State Convention, interest and enthusiasm for research on the State level is high among mothers of twins.
A Dream Come True: The Illinois Organization of Mothers of Twins Clubs
Authors: Dojutrek Jane
Published: January 2025

The dream began when an exuberant mother of identical twin girls engaged the help of a mother of identical twin boys to assist her in contacting already formed mothers of twins clubs (MOTC) throughout the state of Illinois. Their dream and their purpose then – and the purpose of the Illinois Organization of Mothers of Twins Clubs, Inc. (IOMOTC) now — was to join together socially and educationally member clubs throughout the state of Illinois and to exchange information pertaining to the rearing, development and recognition of the individuality of twins as may be forthcoming from parents, doctors, educators and other appropriate sources. The 16 charter clubs and 2 members-at-large became organized on October 20, 1962… thus a dream came true.

Today IOMOTC boasts a membership of 27 clubs and 1 member-at-Iarge for a total of 556 members and a voluntary executive board of 8 officers and 16 chairmen. All member clubs are self-governing. IOMOTC is noncommercial, nonpartisan, nonprofit and nonsectarian. Two sister clubs have the smallest membership (8 members each) and two clubs tie for the largest (48 members each). A bimonthly newsletter, Illinois State Saga, is available to all mothers of multiple births at a nominal cost. As part of their dues benefits, each member club receives copies of Saga. The second vice-president is always available to help either by mail, phone, or in person, any MOT's wishing to start a club or just wanting to join a club close to her home. Officers and chairmen are often invited to visit local clubs. This is valuable in bringing members up-to-date in the latest goings on in “state”.
Supertwin Records
Authors: Lauve Helen Kirk
Published: January 2025

My fascinating yet productive hobby began only with details of the delivery of quadruplets in my home city. The quadruplets were delivered by one of my psysician-employers and, because of predelivery contacts with the mother who was a member of my church, a scrap book about the quadruplets was started. Through outside pursuits, correspondence, detailed study and research this single scrap book has developed into what is believed to be the most extensive collection of authentic data and photographs of twins and supertwins in the world.

Files are kept as authentic as possible, yet by no means are internationally complete. Unfortunately, all multiple births are not recorded in medical, or public, registers and/or literature and some are never registered as multiple births due to circumstances surrounding the birth. A set of quadruplets about whom I have many news items from birth to age one year comes to mind… although the quadruplet birth was recorded by articles in newspapers, medical archives have no record of it because the physician expired before he formally recorded the birth in medical literature. Some births are recorded individually not indicating a multiple birth and others are lost because of a stillborn infant or a macerated fetus accompanying a live birth. Even parents are not always informed of the birth of a macerated fetus that accompanies a live birth.
Blood Group Mythology: Present Status
Authors: Wiener Alexander S.
Published: January 2025

The discovery of a great multiplicity of previously unknown facts and principles has served to develop the field of blood grouping into an important complex science. The formidable task of mastering the now highly complex field of blood grouping has been facilitated by the avallability of a comprehensive text on almost all aspects of the subject, which is now in its sixth edition. This invaluable source book is widely used by advanced workers in the field as well as by beginners, and is treated as the bible on the subject to the exclusion of all other texts. However, the so-called bible has serious scientific faults in that important basic principies are ignored, and certain important basic facts are distorted or misrepresented. Fortunately, other texts are available which are free of these faults, and the use of a single book as the sole source of knowledge concerning the subject has by implication given rise to the myth that the book in question is infallible and may be used alone to the exclusion of all other sources of information. The purpose of the present review has been, not to detract from the well recognized merits of the important “blood group bible” but to point out its limitations, and to point out the existence of other sources which, while not as comprehensive, are free of mythology. If this review serves to remind the readers to consult other sources in addition to the blood group bible, it will have served its purpose, and this may lead to further advances in the field of blood grouping as well as help do away with the thriving field of blood group mythology.
A Genetic Study of Erythrocyte Arginine-tRNA Synthetase Activity in Man
Authors: McCune Sylvia A. , Yu P. L. , Nance Walter E.
Published: January 2025

To search for evidence of genetic variation among the aminoacyl-tRNA synthetases, a semi-automated assay procedure employing a Technicon Auto Analyzer was used to measure erythrocyte arginine-tRNA synthetase activity in samples obtained from normal human twins of various ages. Variation in enzyme activity within the older DZ twins was five times that of the MZ twins suggesting the existence of genetically determined variation in enzyme activity. Higher enzyme activity was observed in newborn DZ unlike-sexed twins than in like-sexed twins of either zygosity. Possible explanations for this observation are discussed.
Biometrische Beitrage Zur Anwendung Von Multiplen Co Varianzanalysen Bei Quantitativen Humangenetischen Fragestellungen
Authors: Rempe Udo , Hosenfeld Detlev
Published: January 2025

The analysis of quantitative inheritance is complicated by age dependent changes. It is possible to describe them by two separate 5-degree polynomials for boys and girls of one family. Supposing a parallel shifting of these pairs of curves for different families, it is possible to calculate the mean course of such a family specific pair even if only a few children were examined at a few termins. By use of these fitted functions it is possible to estimate the value of the quantitative variable for the examined children at a constant age and to eliminate the influence of sex. Similarly, it is possible to eliminate age-caused differences of the parents. Using the age-corrected values of children, mothers and fathers, it is possible to investigate the relations between the values of parents {not midparents !) and children by means of a two-dimensional polynomial approximation. The resulting complicated formulas can be visualized by plotting lines of equal character values of the children in a diagram with the character values of the fathers on the ordinate and those of the mothers on the abscissa. Effects of dominance and of epistasis can be demonstrated by this method. Some results using data of enzyme activities as an example are discussed.
Primary Amenorrhea with a New Mosaic 46,XXqi/47,XXqi Xp-—Consideration on the X isochromosome formation and X chromosome inactivation
Authors: Halbrecht I. , Shabtai F. , Kupferstain C.
Published: January 2025

A case of Turner's syndrome was found to be 46,XXqi/47,XXqi Xp-, a new mosaic. The origin of such a mosaic, the formation of the Xq isochromosome using the C-banding technique, and the X chromosome inactivation are discussed. The Xq isochromosome was apparently monocentric, but probably with two strictly close centromeres. The inactivated X seemed to be the Xqi or the normal X alternatively.
Urinary Mucopolysaccharides in Acheiropodia
Authors: Mourão P.A.S. , Toledo S.P.A. , Dietrich C.P.
Published: January 2025

Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. Although no abnormal pattern was characterized, eventual metabolic dysfunction detected only in bone/cartilage tissues could not be ruled out.
Serum Levels and α1-Antitrypsin Phenotypes in Active Pulmonary Tuberculosis
Authors: Fertakis A. , Archimandritis A. , Tsourapas A. , Douratsos D. , Angelopoulos B.
Published: January 2025

α1-at phenotypes and serum levels were studied in 100 Greek patients of pulmonary TBC by starch-gel electrophoresis and radial immunodiffusion. The mean value of α1-at (315 ± 77) was significantly lower (p < 0.005) than in the control group. An attempt is made to explain this finding based on the α1-at phenotypes distribution in the TBC patients.
Reduction Deformities, Twinning and Mortality in Brazilian Whites and Negroes
Authors: Freire-Maia N. , Azevedo J.B.C.
Published: January 2025

A series of house-to-house surveys in Central Brazil revealed 32 cases of reduction deformities of the limbs (brachydactyly, synbrachydactyly, ectrodactyly, amely, adactyly, achiry, apody, etc.) among 58,761 births (0.54 per thousand, being 0.66 per thousand among Whites and 0.43 per thousand among Mulattoes and Negroes). No sibship was found with two or more equally affected singleton members. One case of concordance among twins is referred. There were no parity, inbreeding, race and sex effects. Both hands and both feet were also equally affected. Precocious mortality and twinning were significantly higher among affected individuals. The presence of cleft lip and palate in one of our index patients may also reflect an etiological relationship. Among the sibs, the total incidence of congenital malformations was similar to that generally accepted for general populations.
Structural Analysis of The Ridge Count data Of Australian Europeans Using Multivariate Analysis
Authors: Singh S. , Aitkin M. A. , Westwood N. H.
Published: January 2025

Multivariate analyses are used to study the structural patterns of ridge counts of fingers. There is a significant difference between the ridge counts of two hands, chiefly due to the first and fourth fingers. There is asymmetry in the covariance matrix of the ridge counts. The correlations between fingers are significant and the decrease in correlation with increasing distance between fingers is not significant.
Partial Deletion of 1q, Following a Pericentric Inversion, in a Boy with Multiple Minor Morphologic Anomalies and Mental Retardation
Authors: Schwanitz G. , Schmid P. , Hägele CH. , Daffner H. W. , Grosse K.-P.
Published: January 2025

In a 3¾ year old boy with mental and physical retardation, a chromosome analysis from lymphocyte cultures revealed a partial deletion of chromosome 1q following a pericentric inversion. The chromosomes of the parents were normal. The clinical picture of the patient included the following characteristics: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, inguinal hernia both sides, undescended but normal sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6-12 months, slight osteoporosis, EQ~0.5.
The Role of Chronogenetics and of Gemellology in the Prevention of Genetic Morbidity
Authors: Gedda Luigi
Published: January 2025

The prevention of hereditary diseases after birth is essentially based on the detection of these diseases at their preclinical level. This may be made possible through a careful pedigree examination and possible identification of a “genealogical alarm”, as well as a detailed clinical examination of the subject and possible identification of preclinical signs of the pathogenesis, i.e., of a “clinical alarm”. The respective roles of chronogenetics and of gemellology in this approach are reviewed.
Hemoglobin Variants in India
Authors: Ajmani Manju , Sharma Archana , Talukder Geeta
Published: January 2025

The occurrence of different types of hemoglobin variants in India has been well-documented in urban populations and in certain tribal areas. Beta-thalassaemia and hemoglobins D, E, H, S, and rare variants like Hb Lepore, have been found in varying percentages. There is a higher incidence of Hb E in the Eastern region and of Hb D in certain Northern populations. The association of Hb E with beta thalassaemia G6PD deficiency has been established. The relationship with other environmental factors, like malaria, is not yet clear.
Heritability Estimates from Twin Studies. I. Formulae of Heritability Estimates
Authors: Kang K.W. , Christian J.C. , Norton J.A.
Published: January 2025

Over the past 50 years a large number of methods have been proposed for estimating heritability from twin studies. The present paper describes the most commonly cited of these estimates as a first step in evaluating their usefulness. A critical review will then follow.
Incidence of Twin Births in Denmark from 1911 to 1974
Authors: Nielsen Johannes , Homma Akira , Isaksen Bo , Bertelsen Aksel
Published: January 2025

A survey of twin births in Denmark in relation to the total number of births from 1911 to 1974 shows a significant decrease in the dizygotic twin birth rate for all maternal age groups. The possible environmental causes of such a decrease are discussed.
Double Trisomy as a Mosaic. Case History (48,XYY,+21/47,XY,+21) and Survey of the Literature of Mixed Autosomal-Gonosomal Trisomies
Authors: Schwanitz G. , Hagner M.
Published: January 2025

The case of a boy is reported showing the typical symptoms of Down's syndrome, in whom the chromosome analysis revealed a mosaic karyotype: 50% 48,XYY,+21/50% 47,XY,+2l. Findings of 92 cases from the literature are summarized to show the frequencies of double gonosome-autosome aneuploidies compared with single trisomies. Referring to the different chromosomes involved, the aneuploid cell formation, the frequencies of combinations, as well as the tendency to mosaic formation are analyzed. The age of parents at the time of birth and the life expectancy are described as well as the clinical symptoms. Theories concerning the origin of double aneuploidies are discussed.
An Analysis of Factors for the Differential Staining of Sister Chromatids in Human Chromosomes Using Giemsa
Authors: Nand Reita , Ghosh P. K.
Published: January 2025

Various reagents were tested for the purpose of developing an improved Giemsa staining technique for the differential staining of sister chromatids in human chromosomes. Reagents like acids, bases, buffers, protein denaturants and proteolytic enzymes were all potent inducers of differential staining. The best results were obtained by brief trypsinization followed by extraction of nucleic acids by incubation in hot HCl. There was poor contrast between unifilarly and bifilarly BrdU substituted chromatids in slides from which trypsin treatment was omitted. The method of slide preparation as they affect the spreads of BrdU substituted metaphases were also evaluated. The results support the role of these reagents in the conformational changes and structural lesions of chromosomal protein leading to differential staining.
Inbreeding Effects in a Coastal Village and Other Parts of Andhra Pradesh
Authors: Reddy V. Rami , Rao A. Papa
Published: January 2025

A survey was carried out among fisher-women in Pallepalam, in Nellore District of Andhra Pradesh, to determine the prevalence and pattern of consanguinity and its effects on fertility, mortality, and morbidity. Of the 106 marriages investigated, 54.72% were consanguineous with predominant proportions of first cousin (36.79%) and uncle-niece (13.21%) marriages. The average inbreeding coefficients for autosomal and sex-linked genes were found to be 0.0405 and 0.0448 respectively. The differences between consanguineous and nonconsanguineous marriages were studied with respect to fertility, mortality and morbidity.
Bibliography on Prenatal and Natal Influences in Twins
Authors: Price Bronson
Published: January 2025

The author agrees with earlier writers that most of the differences observed in monozygotic pairs are due to unusual or extreme environmental factors acting before or during the twins' birth. Although they are typical of development in twins, these environmental factors can hardly be considered typical of development in other individuals. This point, as a review of the literature shows, is often overlooked by those who study twins in the childhood or adult age ranges. As a result the inferences drawn from twin differences are frequently mistaken, or at least quite exaggerated so far as the significance of postnatal influences in non-twins is concerned. At the same tihe, if allowance is made for the environmental biases peculiar to twin studies, the findings may be said to establish more about the importance of heredity in the medical and behavior sciences than most investigators have thought. In the author's opinion the largest single source of bias is the mutual circulation that exists during prenatal development of the majority of monozygotic pairs. Data on that circulation's difference-producing effects are reviewed and related to studies of mature twins. Effects of lateral inversions (asymmetry reversals) and of “natal” factors (chiefly conditions of delivery) are also reviewed, and methods of judging the importance of all three of the biasing conditions are outlined. Need for obtaining systematic and complete information about the natal factors is stressed.
EARLY WARNING PREDICTION WITH AUTOMATIC LABELLING IN EPILEPSY PATIENTS
Authors: ZHANG PENG , GAO TING , GUO JIN , DUAN JINQIAO , NIKOLENKO SERGEY
Published: January 2025

Early warning for epilepsy patients is crucial for their safety and well being, in particular, to prevent or minimize the severity of seizures. Through the patients’ electroencephalography (EEG) data, we propose a meta learning framework to improve the prediction of early ictal signals. The proposed bilevel optimization framework can help automatically label noisy data at the early ictal stage, as well as optimize the training accuracy of the backbone model. To validate our approach, we conduct a series of experiments to predict seizure onset in various long-term windows, with long short-term memory (LSTM) and ResNet implemented as the baseline models. Our study demonstrates that not only is the ictal prediction accuracy obtained by meta learning significantly improved, but also the resulting model captures some intrinsic patterns of the noisy data that a single backbone model could not learn. As a result, the predicted probability generated by the meta network serves as a highly effective early warning indicator.
Before and Besides Werktreue: (Re)inventing Operatic Staging at the 1930s Maggio Musicale Fiorentino
Authors: VELLA FRANCESCA
Published: January 2025

This article examines the role played by the Maggio Musicale Fiorentino as a kind of cultural laboratory for experiments in operatic staging in 1930s Italy. Founded in 1933, Florence's opera and arts festival was a key testing ground for ‘modern’ approaches both to set and costume design and to opera direction, two areas in which northern Europe (especially Germany) is normally held to have led the way, and through which the Maggio helped to reinvent Italian mise-en-scène as an act of independent, artistic creation. Setting the festival's overall project in the context of 1930s aesthetic, philosophical, and cultural debates about theatre, opera, and cinema, and drawing on a rich archive of as-yet-unexplored primary source materials, the article retraces an intellectual and cultural history of Italian staging c. 1930 that resonates productively with several present-day critical and scholarly concerns: from changing attitudes to the nineteenth-century operatic canon, to the early stirrings of Regietheater, to the intertwining histories of opera and film.
Ethnoracial Hierarchies and Democratic Commitments
Authors: Morgan Jana , Kelly Nathan J.
Published: January 2025

Entrenched ethnoracial hierarchies that persist alongside formal democratic rules threaten commitments to democracy. Previous research has shown how marginalization and oppression harm minoritized group members, but has rarely considered the potential harm entrenched group-based hierarchies pose for democratic society overall. This paper offers two innovations. First, we argue that ethnoracial hierarchies have society-wide implications. Entrenched systems of ethnoracial marginalization undermine support for democracy and respect for democratic rights, even among members of privileged groups. Second, group consciousness conditions the effects of ethnoracial hierarchy among minoritized group members. Specifically, when minoritized individuals hold a structural dimension of group consciousness, they tend to sustain commitments to democracy. Insights from interviews with Indigenous and Afrodescendant activists and policy makers conducted during field research in Peru facilitate development of these theoretical expectations. Subsequent analysis of survey data cross-nationally throughout Latin America and over time in Bolivia demonstrates that ethnoracial hierarchies are associated with weaker democratic commitments across society, while reducing these hierarchies strengthens support for democracy. Among minoritized group members, however, structural group consciousness helps to mitigate these negative effects. This paper contributes a theoretical framework and empirical evidence concerning the challenges ethnoracial hierarchies pose for democratic commitments not only among those who belong to minoritized groups, but for people across society.
Success and failure in establishing national physician databases: a comparison between Canada and Israel
Authors: Levi Baruch , Davidovitch Nadav , Allin Sara
Published: January 2025

Physician databases constitute an essential component of health workforce planning. However, while some countries have established functioning national physician databases, others have failed to do so. We compared the healthcare systems of two technologically and economically developed countries, Canada and Israel, which represent cases of respective success and failure in establishing physician databases. A comparative analysis was conducted using a historical-institutionalist approach to examine contemporary health policy outcomes. White papers, studies on healthcare human resources, and reports by professional committees were examined to explore the aims, interests, positions, and actions of stakeholders. In Canada, state–medical profession cooperation, deep-rooted in a longstanding regulatory bargain between the two parties, has facilitated the creation and management of physician databases, albeit limited and in need of urgent improvement, on national and jurisdictional levels. The lack of such regulatory arrangement coupled with enduring conflicted relations between stakeholders due to particular historical developments have hindered the development of an Israeli equivalent database so far. Finally, health policy outcomes may be explained against the backdrop of broader political, governance, and organisational contexts. How medical organisations respond to governmental healthcare initiatives is heavily influenced by their institutional position vis-à-vis the state, shaped by historical processes and regulatory arrangements.