bluuebunny/crossref_metadata_2025 huggingface dataset:
A Contribution to the Psychological Study of Interpersonal Relations in Twins
Authors: Cacciaguerra F.
Published: January 2025

A sample of 71 twin pairs (32 MZ, 39 DZ), of mean age 9.7 years, has been studied through various techniques in order to better understanding the interpersonal relation of twins, both within the pair and with respect to the members of the family group, and especially the mother. Zygosity, dominance, and birth order have been taken into account. The relation between MZ twins appears to be somehow less special than believed, whereas a special triadic relation appears to exist with the mother. A differentiated research of identity in MZs and autonomy in DZs is also noted (which contributes to a better understanding of problems of schizophrenia in twins). Finally, the relation between MZ cotwins shows mutual similarity and attachment to be lower than foreseen and, anyhow, of a far from misterious nature.
Ribosomal RNA, Maternal Age, and Down's Syndrome
Authors: Salamanca-Gomez F.
Published: January 2025

A selective loss (or a blocking) of rRNA genes in ageing oocytes, and its compensation through the retention of an acrocentric nucleolar organizer chromosome, is proposed as a possible mechanism responsible for the increased frequency of Down's syndrome with maternal age.
Dermatoglyphic Studies in Patients with Cooley's Anemia and Cooley's Trait
Authors: Dallapiccola B. , Capra L. , Baricordi O. , Mazzilli C.
Published: January 2025

The dermatoglyphic analysis of a group of Italian patients with Cooley's anemia and Cooley's trait shows Cooley's anemia patients to undergo a significant increase of loops on fingers and a corresponding decrease of whorls. The total loops frequency correlates negatively with the ridge distribution per loop and the total ridge count is significantly decreased. The atd angles are larger. Minor changes in the distribution of patterns in the thenar and hypothenar areas are also observed. In the Cooley's trait patients, loops on fingers are more frequent than in controls, but no difference with Cooley's anemia series is observed. The above findings suggest that the gene(s) controlling loops formation in linkage disequilibrium with thalassemia mutant may have been favourably selected on the “thalassemia chromosome” in the malaria environment.
Distribution of Gm and Inv Factors in Two Samples of the Greek Population
Authors: Archimandrites A. , Fertakis A. , Stathopoulou R. , Kalos A. , Angelopoulos B.
Published: January 2025

Gm and Inv polymorphism has been investigated on a sample of the general Greek population (N = 256) and on a sample of the Achaia population of Northwestern Peloponnesus (N = 150). The estimated frequencies were, respectively in the two groups: Gm1, 0.156 vs. 0.180; Gm1,2, 0.010 vs. 0.017; Gm4,12, 0.834 vs. 0.803; Inv (+1), 0.125 vs. 0.140.
The Gm and Inv Factors in Rheumatoid Arthritis
Authors: Archimandrite A. , Kalos A. , Papakonstantinou G. , Babionitakis A. , Theodoropoulos G. , Dimitriadis P.
Published: January 2025

The Gm(1), Gm(2), Gm(4), Gm(12), and Inv(1) factors were studied in the sera of 56 patients suffering from rheumatoid arthritis and 26 from various rheumatic diseases, by the hemagglutination inhibition test, using optimally reacting mixtures of Ragg and Nagg sera. The distribution of these factors was found to agree with that of healthy Greeks. No correlation was found between hypergammaglobulinemia and the discovery of the Gm(1) and Inv(1) factors. The presence of the rheumatoid factor was independent of the Gm and Inv phenotypes.
Mid-Phalangeal Hair, Hand Clasping and Handedness Among Khatris and Baniyas of Patiala, India
Authors: Singh Lakhbir , Goel Karam Vir
Published: January 2025

Mid-phalangeal hair, hand clasping and handedness have been examined in 425 adult subjects from two endogamous groups of Patiala, Hindu Khatris (230) and Baniyas (195). In a majority of subjects (53.73 % in males and 46.35% in females) mid-phalangeal hair appears to be completely absent. The highest frequency of this trait is found in the combination III-IV and, when considering individual digits, on IV (around 50%). As for hand clasping, R-type appears to be more frequent in Khatris and L-type in Baniyas. Right handedness appears to be by large more frequent in both groups and sexes.
Determination of Triplet Zygosity with the Use of Serological and Anthropological Characters
Authors: Herrlin K.M.
Published: January 2025

This paper discusses briefly some problems involved in zygosity determination in triplets, such as the calculations of the probability of the three zygosity types, as well as the use of serological and other anthropological characters.
Twinning Frequencies in Baden-Wurttemberg According to Maternal Age and Parity from 1955 to 1972
Authors: Krueger Jens , Propping Peter
Published: January 2025

The decline of the twinning rate in Germany since 1900 is exclusively due to a fall of the DZ rate. The analysis of the birth data in Baden-Württemberg from 1955 to 1972 shows that the decline of the DZ twinning rate can be explained only to a small extent by the shift of the maternal age-parity distribution towards younger mothers and lower parities. It appears reasonable that the greater part of this decline is caused by the lessening prevalence of the more fecundable, DZ twin-prone women due to the growing influence of family planning. Furthermore, it is imaginable that the probability for multiple ovulation is decreased after cessation of hormonal contraception.
Frequency of Thoracoomphalopagus Conjoined Twins in Thailand
Authors: Ubolcholket Siwaporn
Published: January 2025

Twenty-two cases of conjoined twins have been collected in Thailand. The numbers occurring in the various parts of Thailand are listed. No known cases have occurred between the years 1968-1973. The extent of union between the conjoined twins is described and illustrated. Some theories are offered as to etiological factors which might account for the occurrence of conjoined twins.
Delayed Ovulation and Monozygotic Twinning
Authors: Bomsel-Helmreich Ondine , Papiernik-Berkhauer Emile
Published: January 2025

Aiming to show that delayed ovulation may induce MZ twinning, follicular maturation was induced in the rabbit by a small quantity of Pregnant Mare Serum Gonadotropin (16 UI four times): coitus, which induces ovulation in the rabbit, was delayed 60 hours after the last injection. From the 387 blastocysts obtained after this treatment, 6 (7.5%) were pairs of MZ twins, twinning being otherwise exceptional in the rabbit. Other anomalies were shown by the embryos, apparently related to a deficient quality of the eggs: high embryonic mortality (62% vs. 27% in controls) and chromosomal anomalies (20%) such as trisomies, triploidies, and chimaeras. The relation between MZ twinning, chromosomal anomalies, and embryonic mortality induced by delayed ovulation, could be connected and related to the poor perinatal conditions frequently observed in human MZ twins.
Scope and Methodology of Twin Studies
Authors: Allen Gordon
Published: January 2025

The use of twins as a research tool is still proving its worth both by the number of scientists engaged in twin research and by the significance of their results. Old, familiar research designs are finding new applications, and new research designs are appearing. Of greatest current interest are the epidemiological studies made possible by the assembly and the aging of large numbers of twins in twin registries. As an outgrowth partly of the twin registries, partly of conceptual and mathematical progress, new methods have emerged for diagnosis of twin types and for analysis of twin data. One line of development started with the questionnaire method of zygosity diagnosis and has given rise most recently to zygosity diagnosis by principal component analysis. Another line started with probability calculations and has led to the use of generalized distance and noncentral chi-square. The appropriateness of these methods in different contexts needs to be critically considered. Also of importance are the psychologists' new methods of extracting genetic “factors”. The greatest weakness of twin studies, long recognized, is their dependence on the assumption that DZ pairs provide an adequate control on the environmental differences within MZ pairs. This may be valid with respect to environmental influences that are highly self-selected. It is debatable for self-selected influences that differ among families, and clearly untenable for most influences imposed by the social environment peculiar to twins.
“Equivocalness” and Other Empirical Methods in Zygosity Assessment
Authors: Gedda L. , Milani-Comparetti M. , D'Alessandro E.
Published: January 2025

Zygosity determination is generally carried out by different methods in small or large twin samples. The probability method based on sex and genetic markers is limited to relatively small samples, as a consequence of its cost. The empirical questionnaire method is applied in several large twin registers. Its margin of error is low enough for population studies, its cost is negligible, but its accuracy is insufficient when zygosity of twin pairs included in definite samples must be individually assessed. Efforts to bridge the distance between the two methods should be made, and they may take either direction: (1) find new, inexpensive genetic markers, or (2) increase the number and accuracy of empirical methods. The accuracy of a number of empirical methods applied to a twin sample of established zygosity has been compared. One modification of the “two peas in a pod” method, originally called “equivocalness method”, appears to warrant inclusion in questionnaire methodology. Also, compound probability as expressed by several empirical methods may reach an acceptable level of accuracy in zygosity assessment.
Genetic Variance in Blood Pressure
Authors: Borhani N. O. , Feinleib M. , Garrison R.J. , Christian J. C. , Rosenman R. H.
Published: January 2025

The National Heart and Lung Institute Twin Study has examined 514 white adult male twin sets aged 42-56 with respect to blood pressure. The data were analyzed by a method of Christian et al. which eliminates possible biases in estimated genetic variances that could result from different total variances in MZ and DZ twins. Results of the test for the presence of genetic variance indicate that both systolic and diastolic blood pressure are to a considerable extent genetically controlled with an estimated heritability of 0.8 for systolic and 0.6 for diastolic pressure. Although these findings are at variance with some previous reports, it is thought that much of the discrepancy results from application of different analytic techniques, not in the data themselves. The application of these findings to our understanding of hypertension epidemiology and community hypertension control programs are discussed.
Dermatoglyphic Investigations in Twins and Siblings
Authors: Plato C. C. , Schwartz J. T. , Wertelecki W.
Published: January 2025

The present report describes the preliminary results of an extensive dermatoglyphic investigation among 491 pairs of MZ and DZ twins, and sibs of both sexes. Paired homolateral comparisons were performed for the determination of the degree of discordance for each dermatoglyphic trait and the results were presented in a series of histograms. Some of the outstanding points brought forth by this study are: (1) different dermatoglyphic traits at different digits or palmar areas have different degrees of discordance; (2) in MZ twins the frequency of discordance for each trait is constant regardless of sex or laterality, whereas in DZ twins and sibs both sex and lateral differences are observed; (3) the higher number of significant differences in concordance between the MZ twins vs. sibs than between MZ vs. DZ twins suggests that, at least in the female, the dermatoglyphics may be affected by changing intrauterine environments.
Normal and Aberrant Palmar Creases in Twins and Siblings
Authors: Plato C. C. , Wertelecki W. , Schwartz J. T.
Published: January 2025

The present study involving MZ and DZ twin pairs, as well as paired normal sibs, was undertaken to investigate further the genetic involvement in the formation of normal palmar crease patterns, as well as simian and Sydney patterns. Two variations of normal creases were investigated: the thenar type R and the distal type I. Both types cluster in families. The R is more frequent in the females. For both types, MZ twins are more concordant than DZ twins or sibs. Sib studies suggest strong genetic involvement in the development of both the R and I crease types. Parents with simian and/or Sydney creases have more children with these traits than offspring of parents without these traits; however, concordance rate comparisons of MZ or DZ twins and sibs do not suggest strong genetic involvement as in the case of the R and I crease types.
Genetic Penetrance From MZ Twins of Absent C-Triradius, A Palmar Dermatoglyphic Trait
Authors: Kloepfer H. W. , Parisi Paolo
Published: January 2025

Among 59 sets of MZ male twins and 48 sets of MZ female twins from Italy, 7 male sets (11.9%) and 7 female sets (14.6%) had absent c-triradius on one or more palms; among 214 individuals who had a MZ twin, 19 (8.9%) had absent c-triradius in one or both palms. Due to small numbers these percentages are comparable to the occurrence of absent c-triradius found in 8.2% of 3946 Caucasians. When one member of a set of MZ twins showed the trait in one or both palms, 35.7% (5/14) of the other members also showed the trait in one or both palms. When an individual showed the trait in one palm, 26.3 % (5/19) of the other palms also showed the trait. These two estimates of penetrance combined give an average value of 30.3%, (10/33) which is comparable to an estimate of 30% found in a study of 478 family units in which transmission was compatible with an autosomal dominant gene.
Biology of Human Intelligence
Authors: Böök Jan A.
Published: January 2025

The article presents a brief review of the genetic aspects of intelligence as measured by IQ tests. The results from family and twin investigations seem to agree in as much as high heritabilities for IQ can be calculated. There are, however, a large number of insecurities and sources of error which invite to criticism. Although, at present, it is justified to assume that genetic factors contribute substantially to variations in IQs, it would be premature to claim that genetic and other causes of variation could be expressed in precise figures. It seems doubtful if this situation could be further improved by continued use of IQs in genetic investigations. It should be more profitable to use other entities, such as well-defined special abilities, which could be designed directly for genetic analyses.
Heritability of Personality and Behavior Pattern
Authors: Rosenman Ray H. , Rahe Richard H. , Borhani Nemat O. , Feinleib Manning
Published: January 2025

As part of the National Heart and Lung Institute multicenter study of twins, 190 twin pairs (93 MZ, 97 DZ) residing in California and aged 44-55 years were comprehensively studied for all risk factors for coronary heart disease and for Behavior Pattern Type A or B. Psychological tests included MMPI, CPI, 16 Cattell PF, Cough Adjective Check List (ACL), Thurstone Temperament Schedule (TTS). Heritability at statistically significant levels was found only for scales of TTS. Twelve scales of ACL and five scales of TTS showed significant correlations with Behavior Pattern Type A-B as well as with several risk factors, including blood pressure and serum lipids. Multiple regression equations were constructed for those characteristics accounting for significant and unique portions of the total variance of Type A-B Behavior. The use of certain scales of ACL and TTS may provide a new questionnaire for screening purposes in the assessment of Behavior Pattern Type A-B.
Heredity and Environmental Factors in the Development of Psychogenic Diseases
Authors: Schepank Heinz
Published: January 2025

Phychoanalytic diagnostic methods and measures have been applied to 50 neurotic twins belonging to 21 MZ and to 16 same-sex and 13 opposite-sex DZ pairs. The 100 subjects consist of 64 adults and 36 children or adolescents. All 100 subjects were personally seen and psychologically examined. The mean intrapair difference of all MZ twin pairs amounts to 3.81 scaling points in a scored degree of severity of the neurosis; that of all DZ pairs to 5.00 points. The distribution of 657 neurotic symptoms in a chi-square table of the 21 MZ and 29 DZ twin pairs shows that 32.7% of the symptons are concordant in the MZ sample, but only 16.7% in the DZ sample. Hereditary influence could be shown in the manifestation of neurotic depressive symptoms, maladaptive oral and aggressive behavior, as well as in schizoid behavior deviations. Hereditary factors play a role in the formation of the neurotic character structure.

Regarding the environmental pathogenic factors, subjects more heavily stressed in early childhood were found, on the whole, more severely neurotic in later life.
Wolf's Syndrome in Twins — Translocation in The Mother
Authors: Lévy M. , Noel B. , Viola D.
Published: January 2025

A case of MZ twins, both affected by Wolf's syndrome, is described. Their mother, of subnormal look and low intellectual level is translocated. The children, born with a weight and size much below the average, show a very special morphotype: a hook-nose, an abnormal conformation of the back edge of the nostrils (a protrusion in the shape of a horn overhanging the filtrum), hypertelorism, microcephaly. Great asynchronism in the maturation of the bones and a somatoschisis of the body of the cervical vertebrae are noted. Deletion of the short arm chromosome 4 is juxtacentromeric. The study of blood and tissue groups corroborates monozygosity. Dermatoglyphs are little abnormal and identical in the two children. The mother's family is phenotypically normal. At 19 months of age, measuring is still below 4, psychomotor progress is extremely weak, and convulsions are frequent.
Genetic Factors in Myopia
Authors: Karlsson Jon L.
Published: January 2025

A school population has been screened to locate same-sexed twins with myopia and also to compare intelligence test performance of myopic and nonmyopic individuals. Augmentation of the twin data by a survey of the world literature has led to the identification of a total of 106 MZ twin pairs, 100 of them concordant for myopia, as well as 41 DZ pairs, 12 concordant. Myopic students score eight points higher on IQ tests than nonmyopes, the entire bell shaped distribution curve being shifted to a higher range. The intellectual gain precedes in time the development of nearsightedness.
A Few Remarks on an Oculistic and Orthoptic Screening of 61 Monozygotic Twin Pairs
Authors: Barbati-Crouzet R.
Published: January 2025

An oculistic and orthoptic screening has been carried out on a sample of 122 twins aged 6 to 10 years (31 MZ male and 30 MZ female pairs). A few remarks could be made, concerning both twins as such and the heritability of the traits under examination. The twins appear to differ from the general population of singletons of the same age on account of a lower frequency of ametropia and strabismus as well as of a high frequency of epicanthus.
Major Fetal Hazards in Multiple Pregnancy
Authors: Leroy F.
Published: January 2025

Fetal risk in twin pregnancy is recognized as being about 2 to 4 times higher than in singletons. The main factors of this increased mortality are reviewed. Pathological effects associated with MZ origin are mainly due to the “third circulation” occurring in monochorial twins. Three situations can be distinguished: (a) hemodynamic equilibrium resulting in fetal growth impairment, (b) strong hemodynamic imbalance inducing fetal death, (c) moderate imbalance as the cause of “intertwin transfusion syndrome”. The acardiac and to some extent the papyraceus fetus can be considered as particular cases of the same problem. Other risks associated with MZ twins are the higher rate of malformations and umbilical cord entanglement in monoamniotic twins. The conjoined effects of prematurity and intrauterine growth retardation are undoubtedly the main cause of fetal death in multiple births. Therefore, some consideration is given to the underlying physiopathogenic factors. Prevention of twin weight defects demands early diagnosis of multiple pregnancy. As little can be expected from classical clinical methods, the obstetrician has to rely on more sophisticated techniques such as fetal ultrasonography. Even with an early diagnosis, at the present time there is no satisfactory treatment capable of preventing prematurity and retarded fetal growth. In this specific context, bed rest would appear as a fallacy.
Duration and Complications of Multiple Pregnancies
Authors: Bolognesi M.
Published: January 2025

Multiple pregnancies reach full term only in a remarkably lower percentage with respect to single pregnancies. Even in the case of multiparae, delivery occurs some three weeks before term. Complications may concern either pregnancy and Puerperium or delivery. The former include (1) abortions, especially frequent in the case of monoplacental and monochorialpregnancies; (2) rarer events, such as hydramnios, placenta praevia, association of an ectopic pregnancy with an intrauterine pregnancy, molar degeneration of one egg with normal development of the other; (3) gestoses of the first and second trimester, more frequent than in single pregnancy; and (4) higher incidence, during Puerperium, of hemorrhage, phlebitis, and uterine subinvolution. With respect to delivery, normal delivery only occurs in approximately 70% of twin pregnancies, the period of dilatation being generally longer than normal. Better assistance and techniques during labor and especially in the interval between delivery of first and second twin have remarkably reduced the higher mortality rate, especially for the second twin.
Intrauterine Hypoxia — A Phenomenon Peculiar to the Second Twin
Authors: Derom R. , Thiery M.
Published: January 2025

During a 5-year period twin births occurrring at the university hospital were investigated for the presence of clinical and biochemical symptoms of intrauterine hypoxia. It appears that intrauterine hypoxia, when detectable, is limited to the second twin. Some factors which may influence the oxygenation of the second twin have been analysed, i.e., the mode of delivery, the time interval between deliveries, and the duration of gestation. No single explanation for the genesis of the hypoxia seems to be valid.
Early Diagnosis and Follow Up of Twin-Pregnancy Using a Two-Dimensional Ultrasonic Scanner
Authors: Abdulla Usama
Published: January 2025

A two-dimensional ultrasonic B scanner is used to diagnose both single and multiple early pregnancy The contact scanning method is used. The patient is required to have a full bladder if she is under 14 weeks gestation. The uterus and the cervix are outlined. Then a search is made for the gestation sac or sacs within the uterine cavity if the cyesis is under 10 weeks. Serial longitudinal and transverse scans are carried out to outline the gestation sacs. The fetal echoes within the gestation sac are seen and the fetal heart rate can be detected using the time-position display (TP). The patients that are studied fall into the following groups: (1) patients who are clinically suspected to have multiple pregnancy; (2) patients who have been on ovulation induction therapy; (3) patients with family history of twins; (4) patients with threatened abortion. The diagnosis of multiple pregnancy during the 11th week is equivocal. After the 12th week gestation the diagnosis is made by visualising the fetal head and the maturity is then estimated by measuring the biparietal diameter. Thus fetal growth can be assessed by carrying out serial biparietal diameter estimations.
Congenital Malformations in Twins
Authors: Myrianthopoulos Ntinos C.
Published: January 2025

Among 1195 twins born in the Collaborative Perinatal Project, for whom information was available, 219 (18.33%) were found to have malformations, 179 (14.98%) single and 40 (3.35%,) multiple. The frequency of malformations among twins was significantly higher than that among singletons from the same population, but the difference was entirely contributed by MZ twins. This holds true for both major and minor malformations. The frequency among Negro twins was higher than among white, and among male twins higher than among female. Twins had more malformations of the central nervous, musculoskeletal, ear, respiratory, cardiovascular, and alimentary systems and fewer malformations of the genitourinary and integumentary systems than singletons. In a significant number of cases when one twin of a pair had a malformation, the cotwin also had a malformation though not necessarily the same as that of the first twin.
Psychopedagogic Counseling for Twins and Twin Families
Authors: Bonanni G. , Tatarelli R. , Godai U.
Published: January 2025

In 1973 the Mendel Institute, within the specialized services it offers to Italian twins, instituted psychopedagogic counseling for twins and their families. This service is carried out in the intermediate field between neuropsychiatry and social work. Cases involving family and social maladjustment were referring for counseling. During the academic year 1973-1974, the service examined 96 cases, of which 58 involved problems of school retardation and 38 involved family maladjustment because of changed parent-twin relationships. The counseling service aimed at achieving improved family and school relationships by means of various therapeutic interventions. The psychopedagogic counseling, besides the immediate therapy, has permitted deeper study of maladjustment by means of analyses of the twins' condition as a possible additional cause of the maladjustment itself. Analysis of the cases in this limited sample would seem to indicate an indirect incidence of the twin situation per se (couple effect), somewhat emphasized by the family and social environment.
The History of the International Twins Association (I.T.A.)
Authors: Lavelda  , Rowe Lavona
Published: January 2025

It is both an honor and a pleasure to stand before you today to take a small part in the First International Congress of Twin Studies.

For several years, we have dreamed of someday visiting the Mendel Institute. We first became aware of Dr. Luigi Gedda's work with twins in a psychology class at the State University of Iowa, in Iowa City, Iowa, in 1954. We are here today as Ambassadors-at-large of a rather unique organization for twins - the International Twins Association, Inc.

The International Twins Association, Inc (I.T.A.) was organized By and For Twins in 1932. Rev. Edward M. Clink of Silver Lake, Indiana, U.S.A. was on a tour of the United States. He encountered several sets of twins and thought that they should get together. He and his twin sister, Elsie Clink inserted an article in several newspapers requesting twins to bring a basket dinner to Center Park in Warsaw, Indiana, on Sunday, August 29, 1932. Twenty-four sets of twins were present at that first meeting.

One year later, a basket dinner was served to 200 sets of twins. And by the next year, 400 doubles and 2000 onlookers were present. The 4th annual meeting in Warsaw Park in Indiana in September 1935 found more than 900 sets of twins parading before 5000 spectators. That year, many states of the union were represented.

On August 1937, Fort Wayne's Trier Park in Indiana was host to 1,900 sets of twins for the 5th annual convention with 10,000 spectators. But the largest attendance, still unequalled to our knowledge, occurred the following year on August 29, 1937 when the National Twins became known as the International Twins Association, Inc. An old newsclipping states that 20,000 twins were in attendance. At this time co-officers were elected (a set pf twins holding an office to emphasiee the twin idea), and By-laws written to govern the association. The International Twins Association, Inc. (I.T.A.) conventions were held in Fort Wayne until 1939. Then the conventions moved from city to city throughout the United States, giving more twins an opportunity to learn about this unique fraternal organization.
The Chronogenetics of Caries in Primary Dentition
Authors: Gedda L. , Brenci G. , Oddi G.
Published: January 2025

A chronogenetic analysis of caries has been carried out in a sample of 100 twin pairs (27 MZ, 64 DZ, 9 UZ) aged 3-8 years, taking into account the number of decayed teeth and the intensity and severity of caries. Heritability estimates, calculated for each of the various parameters considered, support the hypothesis of a genetic control of the time of onset of caries.
Genetic Selection and Equilibrium Stability
Authors: Rossi Carla
Published: January 2025

The problem of the equilibrium stability of a phenotypic selection process, with a single pair of autosomal alleles, has been numerically studied, on the basis of previously established reproduction differential equations.
47,XX, + 13/46,XX Mosaicism: A Case Report
Authors: Toledo S.P.A. , Wajntal A.
Published: January 2025

We described a D1 trisomy syndrome patient who had a normal 46,XX cell line and 15.4% of lymphocytes with a 47,XX,+D chromosome constitution as an occasion to review normal trisomy 13 mosaicism.
Simulation of Twin Data Controlling Population Mean, Variance, Skewness and Kurtosis
Authors: Christian Joe C. , Bailey Joan E. , Evans Mary M. , Kang K. W. , Norton James A. , Yu P.L.
Published: January 2025

A computer system for simulation of quantitative twin data is being developed. The capability is being built in to simulate distributions with known means, standard deviations, skewness and kurtosis.
Use of Banding Techniques for Zygosity Diagnosis in Twins
Authors: Friedrich Ursula , Lyngbye Troels , Øster Jakob
Published: January 2025

Detailed comparison of human variant chromosomes found by Q- and C-banding technique is performed in a pair of twins to show that these variants can be used for zygosity diagnosis.
On the Nature of Syndrome Delineation
Authors: Cohen M. Michael
Published: January 2025

Perhaps half of all patients with multiple abnormalities have known, recognized syndromes. The other half represent unknown entities that need to be further delineated. The significance of syndrome delineation cannot be overestimated. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its risk of recurrence become known, allowing for better patient care and family counseling.

The process of syndrome delineation is discussed in terms of unknown genesis syndromes of the provisionally-unique and recurrent-pattern types, and known-genesis syndromes of the pedigree, chromosomal biochemical-defect, and environmentally-induced types. Several special syndrome categories are defined, including the chance syndrome, variant additive syndrome, association syndrome, exceptional chromosomal syndrome, and exceptional monogenic syndrome. Finally, a population definition of a syndrome is developed.
Ectodermal Dysplasias Revisited
Authors: Freire-Maia Newton
Published: January 2025

This paper presents a historical view of the development of the concept of ectodermal dysplasia, analyses five current “definitions” of the group, and classifies 52-57 ectodermal dysplasias into subgroups on the basis of criteria developed by the Author.
Onset of Puberty in MZ and DZ Twins
Authors: Fischbein Siv
Published: January 2025

A twin study on the significance of genetic factors for the variation in peak height and peak weight velocity, as well as in age at menarche and the development of secondary sex characteristics, is presented. Evidence of a rather strong genetic regulation of the occurrence of puberty was obtained in the analysis. The maximal height or weight gain (in cm/year or kg/year) seems to be, at least in girls, less influenced by genetic factors than the age at which it appears.
Follow-Up Investigation of a Familial Translocation 14/18
Authors: Schwanitz G. , Hägele CH. , Schmid P.
Published: January 2025

A follow-up investigation of a family 14/18 translocation has shown the first affected child to be followed by a healthy boy and by a similarly affected girl.
La Mortalité Infantile: Hérédité et Milieu
Authors: Philippe Pierre
Published: January 2025

An analysis of familial liability to infant mortality is presented. Heritability estimates for three periods of the demographic evolution of an isolated population (Isle-aux-Coudres, Quebec) are provided. Average heritability is on the order of 27%. This is interpreted as being partly due to sibs common environment and partly to dominance variance effects of genes. The real additive variance of the familial liability might well be nil.
Genetic and Nongenetic Variation in the AB0 Agglutinin Levels of Plasma, Saliva and Milk
Authors: Barrantes R. , Salzano F.M.
Published: January 2025

The agglutinin levels of 250 parturient women and their newborn babies were studied and the modifying influence of 16 variables evaluated. The most important factor in this variability is the AB0 phenotype. The agglutinin titers are generally higher in milk than in plasma or saliva. Blacks always show salivary agglutinins in higher frequencies than Whites. Within each fluid the amount of anti-A and anti-B are always highly correlated (r 0.59-0.79). Associations were also observed between the titers in plasma and milk (r 0.25-0.30). The plasma and milk anti-A levels of the 0 mothers are correlated with those of their 0 children (r 0.28-0.37), but the anti-B are not. Socioeconomic conditions may affect the salivary anti-A and anti-B titers.
Cytogenetic Observations in Infertile Men Working with Insecticidal Compounds
Authors: Shabtai Fiorella , Bichacho Shlomo , Halbrecht Isaac
Published: January 2025

The negative influence of some insecticides on male fertility has been noted. We report our cytogenetic observations on a group of infertile insecticide workers. Increased chromosomal breakage was a constant finding and the Y chromosome was especially damaged. This may account for impaired spermatogenesis. Furthermore, the involvement of heterochromatic chromosomal variants both in the individual susceptibility to the chemically induced damage and in the reproductive fitness is emphasized.
Partial Trisomy 8q Resulting from Maternal Translocation t(2;8)(q373;q23)
Authors: Giorgi P.L. , Tarantino E. , Formica Adriana , Cipriani P. , Dallapiccola B.
Published: January 2025

A patient with multiple congenital malformations due to partial 8q trisomy is reported. Karyotype-phenotype correlations suggest the possibility that partial trisomy 8q is a nosologically distinct syndrome.
Arabic literary papyri and Islamic renunciant piety: Zabūr and hadith in Vienna papyrus AP 1854a–b
Authors: Hammed Ursula , Vishanoff David
Published: January 2025

To the limited materials available for the study of the early Muslim tradition of renunciant piety (zuhd) may now be added the papyrus P.Vindob. AP 1854a–b of the Austrian National Library in Vienna, which is edited, translated, and annotated in this article. Its two incomplete and damaged leaves contain four texts that constitute a small anthology of meditations on the imminence of death and judgment: psalms 7–13 of the Islamic ‘Psalms of David’ (Zabūr Dāwūd); a collection of narratives surrounding the death of the Prophet Muḥammad; a collection of material about grief over the deaths of the Prophet and Fāṭima and over the slaughter of al-Ḥusayn's party at Karbala; and a dialogue between God and the prophet David about the rewards of the afterlife. The papyrus confirms that the long Muslim tradition of rewriting the ‘Psalms of David’ originated in early renunciant circles. It also illustrates the process whereby a ninth-century preacher could compile a notebook of sermon material from a wide range of sources, including poetry, hadith, and an apocryphal scripture. It also shows how much the still-underdeveloped study of early Islamic piety stands to benefit from the even less-studied resource of Arabic literary papyri.
Sacred immigrants and travelling rituals: Malabar in the Sufi cosmopolis of the Indian Ocean
Authors: Parappu Kadavath Matra Abdul Jaleel
Published: January 2025

This article traces how the Yemeni-origin Sufi order of Ṭarīqa ʿAlawiyya and its ritual litany of al-Ḥaddād, with chants and prayers for the Prophet and his descendants especially from Hadramawt, became part of everyday Muslim devotional practices in Malabar through immigrant networks of Hadrami Sayyids. Competing, sometimes rivalling, and appropriating other Sufi religiosities, the Alawi order meaningfully involved within the theo-legal Sufi discourses that have been remoulding the Sufi cosmopolis in the Indian Ocean. By focusing on two notable early immigrant Sayyids in Malabar, this article argues that the successful placement of the ʿAlawī order within the Sufi cosmopolis and the permeation of the ritual was a complex socio-religious project that was brought forth by various aspects of the sacred genealogy, Alawi Sufi writings, Sufi activism, and the effective utilisation of Hadrami immigrant networks.
Separated by a common im/politeness marker: please in American and British web-based English
Authors: MURPHY M. LYNNE
Published: January 2025

Comparative speech-act studies have found that British English directives tend to include the pragmatic marker please at about twice the rate of American English directives. Nevertheless, lexical please is often as frequent in American English corpora as in British ones – indicating that sincere directives are only part of this pragmatic marker’s story. This article reports on British and American please usage in the Corpus of Global Web-based English (GloWbE; Davies 2013). GloWbE shows similar numbers of non-verbal please on American and British websites, but also differences in what please is used for. This contributes to a larger picture of pragmatic variation in which British English uses a more bleached and routine please, whereas American please might be more at home effecting im/politeness in contexts of greater face-threat.
The performance of L2 French children on the LITMUS-QU Nonword repetition task during their first year of exposure: impact of age, vocabulary size, verbal-short term memory and phonological awareness
Authors: Almeida Letícia , Coupé Christophe
Published: January 2025

In this study, we describe the performance of 62 newly immigrated children to France at a nonword repetition task (LITMUS-QU-NWR-FR) designed to evaluate bilingual children’s syllable structure. Children were between 6;0 and 9;1 and had diverse language backgrounds. They participated in our study during their first year of exposure to French. The majority of our children exhibited a good performance on the task. The variation observed is related to: (i) the properties of the nonwords: items with complex syllables are more difficult, as are items with three syllables in length; (ii) phonological awareness: children with a more developed L2 phonological awareness perform better at the task; and (iii) receptive vocabulary size: children with a larger L2 vocabulary size perform better at the task. Overall, our findings provide support for the argument that the LITMUS-QU-NWR-FR task can be used shortly after the onset of exposure to the L2.
The importance of pension and financial knowledge for pension plan participation in Italy
Authors: Castagno Elisa , Caretta Alessandra , Giacomel Elisabetta , Rossi Mariacristina
Published: January 2025

Due to the implementation of several pension reforms, Italian individuals have to take more complex financial decisions and have more responsibilities on their retirement well-being which also includes the choice of whether to participate in pension funds. Relying on novel survey data, we empirically investigate the effect of pension and financial knowledge on the probability of pension plan participation in Italy. Despite documenting the already well-known trends about disparities in the level of such knowledge, we are able to establish that only pension literacy has a positive and causal effect on the probability to participate in a private pension fund.
ALGEBRAIC CLASSES IN MIXED CHARACTERISTIC AND ANDRÉ’S p-ADIC PERIODS
Authors: Ancona Giuseppe , Frăţilă Dragoş
Published: January 2025

Motivated by the study of algebraic classes in mixed characteristic, we define a countable subalgebra of

${\overline {\mathbb {Q}}}_p$

which we call the algebra of André’s p-adic periods. The classical Tannakian formalism cannot be used to study these new periods. Instead, inspired by ideas of Drinfel’d on the Plücker embedding and further developed by Haines, we produce an adapted Tannakian setting which allows us to bound the transcendence degree of André’s p-adic periods and to formulate the p-adic analog of the Grothendieck period conjecture. We exhibit several examples where special values of classical p-adic functions appear as André’s p-adic periods, and we relate these new conjectures to some classical problems on algebraic classes.
Emergency department use and responsiveness to the palliative care needs of patients with dementia at the end of life: A scoping review
Authors: Vieira Silva Sara , Conceição Paulo , Antunes Bárbara , Teixeira Carla
Published: January 2025

Objectives

More than 50% of patients with dementia visit the emergency department (ED) each year. Patients with dementia experience frequently unrelieved symptoms that can benefit from palliative care. Response to palliative care needs in the ED can be quite challenging and access to palliative care is generally scarce. The aim of this scoping review is to assess ED use and responsiveness to palliative care needs of patients with dementia in their last year of life.

Methods

A scoping literature review following the Joanna Briggs Institute methodology. Electronic search of the literature was undertaken in Medline (PubMed), Web of Science, Scopus, Scielo, and APA PsycInfo, last updated on 19 February 2024.

Results

Twenty-four studies were identified and confirmed that patients with dementia frequently resort to the ED near the end of life, frequently more than once in their last year of life. Eight studies directly addressed palliative care needs, suggesting significant rates of palliative care needs among patients with dementia and in comparison, to other oncological or non-oncological conditions. Infections and neuropsychiatric symptoms were the main reasons of admission to the ED. Access to palliative care was confirmed to be low.

Significance of results

This scoping review indicates that patients with dementia frequently resource to the ED in their last year of life with unmet palliative care needs. Although scarce access to palliative care and the existence of important barriers in the ED, palliative care intervention in this setting can be seen as an opportunity to attend palliative care needs and referral to palliative care services.
Ray tracing simulation and experimental validation for millimeter-wave massive MIMO systems
Authors: Di Jingyun , Yuan Zhiqiang , Lyv Yejian , Tan Rong , Fan Wei
Published: January 2025

Accurate channel characterization is extremely helpful in channel estimation, channel coding, and many other parts of communication system design and can effectively reduce overhead. Ray tracing (RT) shows accurate channel reconstruction for specific maps, but the multipath propagation in indoor scenes is far more complex than in outdoor scenes leading to a challenge for RT. This work presents and validates an RT tool for a massive multiple-input multiple-output (MIMO) system in the millimeter-wave frequency bands with the associated channel beamforming algorithm and provides ideas for channel estimation algorithm in subsequent MIMO systems. The impact of the order of interactions, e.g. reflections and diffractions on the channel impulse response reconstruction are analyzed in the RT simulation. The comparison between RT simulated and measured results shows a reasonable level of agreement. The presented RT tool that can provide complete and accurate channel information is of high value for the design of reliable communication systems.
Managed freedom in precarious times: Maintaining academic freedom in transitional Hong Kong
Authors: Fu Hualing
Published: January 2025

This article examines the status of academic freedom in Hong Kong in light of the increasing securitization of higher education since the implementation of the National Security Law (NSL) in 2020. It provides an analytical framework to comprehend the changing landscape of academic freedom in Hong Kong, highlighting the impact of the NSL and the conflict between the necessity of political control on securitized campuses and the demand for international, free, and high-quality universities to make Hong Kong a global hub for higher education. The article concludes by asserting that the NSL has reshaped and will continue to impact academic freedom and university autonomy concerning core security issues, but there is still a possibility to establish a defendable space for genuine academic freedom in classrooms.
On the Importance of Providing a “Don’t Know” Response Option in Syllogistic Reasoning Tasks
Authors: Dames Hannah , Ragni Marco , Schulte Niklas
Published: January 2025

Abstract: Syllogistic reasoning tasks typically contain a response option stating that no valid conclusion can be drawn from the information. This response is the logically correct response for the majority of all syllogisms. However, the same response may also be chosen by participants who are simply unable to find the correct solution. In the current study, we suggest using an additional “don’t know” response option so that unsuccessfully aborted reasoning processes are not systematically classified as successful. We demonstrate that, when given the opportunity, participants make systematic use of a “don’t know” response option. Further, the inclusion and use of the response option significantly impacted participants’ response distribution when compared to a group of participants that did not have such a response option. Our findings suggest that without an opt-out option, participants engage in biased guessing behavior when they “give-up” on a problem, leading to incorrect ability estimates in testing situations. We conclude that future tests employing syllogistic reasoning tasks should include an additional “don’t know” response option to obtain unbiased measures of reasoning abilities.
Ceres: Organic‐Rich Sites of Exogenic Origin?
Authors: Sarkar R. , Nathues A. , Hoffmann M. , Cloutis E. , Mengel K. , Singh P. , Thangjam G. , Hernandez J. , Karunatillake S. , Coutelier M.
Published: January 2025

Ceres, the largest object in the asteroid belt, is the only potential ocean world in the inner Solar System. Previous studies identified deposits of aliphatic organics in and around the Ernutet crater, and at small locations at Inamahari and Urvara craters. The origin of organics, either endogenic or exogenic, in these fresh exposures is still under debate. This study addresses the origin of the organics by analyzing their global distribution and geologic context. Our first step involved a global search for organic‐rich sites that might have escaped previous detections. We achieved this by using a deep neural network, utilizing spectral redness in the Dawn's Framing Camera multispectral data to identify potential organic‐rich sites. The identified sites were further studied by using IR spectrometer data to infer the compositions of materials showing spectral redness. Of the newly identified red‐sloped sites, only two can be considered certain to be organic‐rich. We also identified sites with spectral redness, but without any signature of organics in their infrared spectra. These sites could be attributed to the aqueous alteration of magnetite into ferric‐iron bearing phases. At Ernutet, Inamahari, and Urvara, the organic‐rich material is confined to the near surface only. Additionally, the absence of tectonic/volcanic features at these sites makes an endogenic origin questionable. The global rarity of detectable organics also supports this assessment. Consequently, we suggest that organics at these sites were originally delivered by low‐velocity, organic‐rich impactor(s) from the main belt and subsequently excavated, rather than originating from endogenous processes.