bluuebunny/crossref_metadata_2025_split huggingface dataset:
Morfologia dei polinucleati neutrofili studiata con il metodo gemellare Nota prima: La formula di Arneth
Authors: Riggio G. Torrioli , Reggiani L. 
Published: July 2016

SUMMARYIn this first report the Authors take into consideration only the meaning of group I of Arneth's formula, utilizing the data of the zoo findings on pairs of DZ, of healthy MZ and diseased MZ Twins. They find, in group I, a moderate influence of the disease factor.These findings are believed to be in agreement with Pappenheim's theory, according to which the relationship between the first group of Arneth's formula and the following groups would be lined more closely to a maturative factor influenced by physiopathological conditions than to a cellular constitutional, which is present, though.The genie factor dominate instead in the other four groups, as will be amply shown in the next report.
Panmielopatia costituzionale con malformazioni multiple (sindrome di fanconi)
Authors: Gatto Ignazio , Albeggiani Alberto 
Published: July 2016

SUMMARYThe Author describes two case of Fanconi's syndrome in a 5-year-old boy and in an 11-year-old girl respectively. A diagnosis was made in both of erythroleucothrombocytofenia and medullary aplasia, cutaneous, hyperpigmentation, some shortened and bent fingers, symptoms of haemorragic diathesis and of alterations in body development with radiological signs of intracranic hypertension, high levels of plasmatic proteins with increased globulins. In the boy scleroedema was also found. The tests for haemorragic diathesis hinted in this case, at the presence of anticoagulants in the blood.The statistical study of all the cases published in the literature and an appraisel of the results by the methods of Lenz and Hogben induces the admission that Fanconi's syndrome is a hereditary disease transmitted by a recessive character with multiple effects irregularly expressed.
La Voce dei Gemelli—I. Prova di identificazione intrageminale della voce in 104 coppie (58 MZ e 46 DZ)
Authors: Gedda Luigi , Bianchi Alfonso , Bianchi-Neroni Lydia 
Published: July 2016

SUMMARYThe Authors have studied the voices of twins by means of an intrageminal identification test. They have recorded the voices of 104 twin-pairs (58 MZ and 46 DZ), asking each twin to listen to the play-back of his own and his co-twin's voice, urging him to indicate which of the two voice samples was his co-twin's.In 66% of the MZ pairs both twins were unable to identify their co-twin's voice; in 21% of the MZ pairs only one twin identified his co-twin's voice, and in 13% of the MZ pairs both twins could identify their co-twin's voice. In the case of the DZ pairs the corresponding results are completely reversed, as they are respectively 2%, 20% and 78%.This experience shows that the voice of MZ twins carried over the air is concordant and practically identical in its acoustical effect. Furthermore, the comparison of this result with the one afforded by the voice of the DZ pairs proves that the mechanisms charged with originating the human voice are highly conditioned by heredity.
Comments on the Analysis of Twin Samples—II. The Sample
Authors: Allen Gordon 
Published: July 2016

Summary, Part IIThe statistics describing a twin sample should be computed from index cases (probands) rather than from twin pairs, if some or many pairs are represented by a single index case. Only then can the sample be compared with a larger population either in terms of twin frequency or in terms of proportions within the sample. The latter comparison might involve the proportions of opposite-sex and same-sex pairs, the proportions of monozygotic and dizygotic pairs, or the proportions of diagnostic subgroups. The same type of computation is also required for the estimation of penetrance and concordance rates. In the latter case, however, the number of index cases from concordant pairs should be halved in order to correct for the twofold representation of concordant pairs in the sample.
Reazioni posturali e mimiche di 56 coppie di gemelli alla proiezione di film umoristici ed ansiogeni
Authors: Gedda Luigi , Nerotti Lydia 
Published: July 2016

SUMMARYThe Authors have studied 56 twin pairs (31 MZ and 25 DZ) under the aspect of the psychomotor reactions they have shown while watching motion pictures. The most closely considered reactions have been head posture, arm and leg posture and mimic reactions. The analysis of the reactions was carried out on photographs taken during the projection of the films and then compared for the degree of similarity of the postural or mymical reactions. The degree of similarity was rated according to the following scale: concordant, similar, dissimilar, discordant.The results obtained have shown that head posture (on which the influence of conscious mobility is higher) the hereditary factors have a clear influence; while for arm posture and especially for leg posture during projection the influence of hereditary factors could not be proven in any appreciable degree; this finding is thought to be related to the low influence of conscious mobility and with the sitting position being conditioned by environmental factors.For mimic reactions the influence of a hereditary component is always clear, but from this point of view a marked difference is found between mimic reactions to anxiogenous and to comical films. Reactions to the latter reveal a higher, characteristic degree of difference between MZ and DZ twin pairs, i. e. a higher degree of hereditary influence.The Authors have made further studies on the family trees under the aspects of previous twinnings and of previous personal pathological anamnesis, increasing the known case histories and strenghtening the conclusions reached by Gedda in previous studies.
Distributions of skin pigmentation, dermatoglyphics, tasting ability, and ABO blood groups within mixed negro-white populations
Authors: Rife David C. 
Published: July 2016

Summary1. A highly significant association exists between dark pigmentation and patterns in the second interdigital palmer area among populations of mixed Negro-White ancestry, both in northern Sudan and in the United States.2. No significant associations were observed between pigmentation and ABO blood groups, tasting ability and pigmentation, blood groups and tasting ability, palm patterns and blood groups, or tasting ability and palm patterns.3. The relatively high association between pigmentation and second-interdigital palmar patterns suggests linkage between some of the genes conditioning these two traits.
Zur Frage der Vererbbarkeit des Irregulaeren Agglutinins Anti A1(a1)
Authors: Speiser P. 
Published: July 2016

SUMMARYOn the basis of serological observations in male twins of group A2with irregular Anti-A1(α1,) agglutinins in the serum the possibility of an inheritance of these antibodies is indicated. Further additional five individual observations are included.Simultaneously it was possible to obtain in the above indicated twins a triple group-and factor paternity exclusion.The following is proposed:1. To place on a broad basis the examination of the inheritance of irregular Anti-A1-Agglutinin.2. To evaluate the previous «exceptions» to the rules of genetics concerning the system of blood groups and blood factors in the light of the currently known serological and anthropological armentarium.
Die Zwillingspathologie der Vitiligo
Authors: Siemens H. W. 
Published: July 2016

SUMMARYOther than a specific case of concordant Vitiligo in MZ twins, the development of which has been followed for more than 11 years up to now, MZ twins suffering from Vitiligo have been described only three times. In all the four cases, three were concordant, one discordant; this last was accompanied by a discordant disorder of basal metabolism, by hyperhydrosis and exophtalmus. The greater degree of concordance found up to the present day, notably contrasts with the relative extreme rarity of familiar Vitiligo.
I problemi medico - legali della morte improvvisa e contemporanea nei gemelli
Authors: Dell'Erba Antonio 
Published: July 2016

SUMMARYThe A. explains the case of a pair of male twins five month aged, contemporaneously and suddenly died of a cardiac insufficiency from hyperthymism.The examination of both their parents permitted to assure a syphilitic inherited lemish in their children.Considering the question from the medico-legal standpoint, he does not justify any suspicion of a criminal action when the event may be justificable under the acquaintance of gemellology.He confirms, besides, reflecting upon the genealogic factors of the parent's families, the theory of Gedda on the hereditary mechanism of gemellogenesis which in the above mentioned case declares itself as an heredity jointed to the sex.
An Analysis of Stillbirth Frequencies among Members of Twin Pregnancies within the total, the White and the Colored Populations of the United States
Authors: Strandskov Herluf H. , Askin J. E. 
Published: July 2016

SUMMARY1. Data are presented relative to twin pregnancies within the total, the “white” and the “colored” populations of the United States for the 15 year interval from 1922 to 1936, inclusive.2. Attention is called to the fact that twin pregnancy frequencies in all human populations fall within rather narrow limits, and it is suggested that this fact supports the conclusion based on other lines of evidence that human twinning has some genetic basis.3. It is shown that the twin pregnancy frequency for the “colored” population is significantly higher than is the corresponding percentage for the “white”. It is concluded that this difference is due, in part at least, to a difference in heredity.4. It ise stimated that 33.43 percent of all twin pregnancies within the total population are of the monozygotic type and that within the “white” and the “colored” populations considered separately the corresponding percentages are 34.16 and 28.91, respectively.5. Calculations show that the higher percentage of twin pregnancy frequency within the “colored” population than within the “white” is exclusively the result of a higher percentage of the dizygotic type of pregnancy.6. It is shown that livebirths among twins have a significantly lower percentage of males than do livebirths among members of single pregnancies. This is attributed primarily to a higher percentage of male deaths in twin than in single pregnancies during early uterine stages.7. It is shown that the percentage of stillbirth for twin pregnancies is twice as high as is the percentage for members of single pregnancies. Even so it is suggested that there may be at present or in the future a trend started in the direction of an increase in the percentage of plural births within the human species.8. It is shown that the percentage of sets of twins in which both members are stillborn is higher than the one expected on the assumption that the deaths of the two members are independent events.9. The percentage of sets of twins in which both members are stillborn is found to be significantly higher for same sex sets than for opposite sex sets. This is attributed primarily to the inclusion of monozygotic sets among the former.10. It is also shown that the percentage of sets of twins in which only one member is stillborn is significantly higher for same sex sets than for opposite sex sets. This is attributed primarily to the inclusion among the former of monozygotic sets in which one member is handicapped as a result of an unequal twinning process or of some related phenomenon.11. Many additional differences relative to twin pregnacies are shown in the accompanying tables, but are not discussed either because they are relatively insignificant or because they require supporting data.
Twins as a Natural Test of Chronogenetics
Authors: Gedda Luigi , Brenci Gianni 
Published: July 2016

Monozygotic twins are the best witnesses of the existence of a hereditary biological time, because they would not be identical if they had not also inherited the times of appearance and duration of their common hereditary information. The authors gave the name “chronogenetics” to this branch of genetics which concerns the temporal dimension of the gene and the mechanisms of transmission and manifestation of the temporal characteristics. The “Ergon/Chronon System” is suggested as a model to explain chronological heredity in terms of molecular genetics.An example is offered of a chronogenetic analysis of puberty based on the study of puberty times in 157 female and 154 male twin pairs. This shows the hereditary conditioning of numerous chronogenetic parameters, the extrapolation of conclusions concerning the phenomenon of puberty, and the establishment, in this regard, of a borderline between hereditary and physical times.A picture is finally drawn exemplifying Normal Hereditary Times (gametic, auxologic, homeostatic, and old-age recession times) and Pathological Hereditary Times (auxologic, cardiovascular, neoplastic, immunitary, metabolic, and antitoxic pathology times).Provisional chronogenetic developments are indicated, and a possible advancement toward the recycling of the gene is hoped for.
Monozygotic Twins with Concordance for Down's Syndrome and Congenital Heart Disease
Authors: Papp Z. 
Published: July 2016

Cytogenetic, clinical, and other findings are presented on a pair of same-sex, monochorial MZ twins concordant for both trisomy 21 and congenital heart disease.The literature on Down's syndrome in twins and on congenital heart disease in twins is reviewed and the exceptional occurrence of concordant congenital heart disease in MZ twins is stressed.
Twins in Nature, Science, and Society
Authors: Gedda L. 
Published: July 2016

Rome is certainly one of the places in the world which speaks to us of twins more than any other, and, in Rome itself, the Capitoline Hall of the Horatii and Guriatii triplets. From the myth of Romulus and Remus, history gradually passes through the tale of the triplets from Rome and Albalonga, who prevented a bigger war, up to the memory of the Emperor-philosopher Marcus Aurelius, who had twin sons.Today, however, not only legend and history deal with twins, but also science and particularly demography and genetics do so as well.Demography discovers constants in the frequency of the phenomenon of twins, and this presents characteristic variabilities which aid in reconstructing the ethnological events of the human species. The example of Italy is characteristic (see sketch on the cover of the book).Genetics has found in twins a special motif of interest, in that about one-third of the twins are identical, that is, they have the same hereditary patrimony. On the basis of this phenomenon, twins hereditarily different are also utilized, and special study methods have been set up. The study of twins today opens up in a special way a new field of Genetics, of which they represent the most important and demonstrative test: the heredity of biological time, or Chronogenetics.
Prenatal Genetics with Particular Reference to Neurological Disease
Authors: Zellweger Hans 
Published: July 2016

Prenatal diagnosis, although it has been introduced only a few years ago, has already become an important branch of genetics and cytogenetics.Metabolites of certain monogenic diseases can be discovered in the supernatant of the amniotic fluid, although reliable results are obtained in later months of pregnancy only.Determination of fetal sex is important if the mother is a proven carrier of a severe X-linked disease such as X-linked muscular dystrophies, Hunter's, Lowe's, Lesch-Nyhan disease. It can be done by the analysis of nuclear sex or sex chromosomal complement.Biochemical studies of amniotic fluid cells, notably cultured amniotic fluid cells, permit prenatal diagnosis of some inborn errors of metabolism such as Tay-Sachs disease, Hurler's and Hunter's disease, and some rare monogenic diseases.Numerically of greater importance is the prenatal chromosomal analysis of high-risk women. Provided it could be done in all so-called high-risk women, a considerable number of aneuploidies could be prenatally detected and ultimately prevented.Religious and legal implications of eugenic abortions are discussed.
Genetic Consultations in Neuroophthalmology
Authors: Klein D. 
Published: July 2016

The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their families.Huntington's chorea, e.g., manifests itself between 30 and 40 years of age, that is to say, when the patients often have already one or more children, who shall be exposed to the threat of becoming affected until rather an advanced age.Among other dominant affections, myotonic dystrophy (Steinert) is discussed, which can nowadays be diagnosed in about 1/3 of cases before the first clinical manifestations, owing to slit-lamp examination and electromyography. Contrary to Huntington's disease, the affection can be detected at an early stage of life, so that the patients may still be dissuaded from having children.In the field of ophthalmological conditions, the genetics of uni- and bilateral retinoblastoma, the three types of retinitis pigmentosa (recessive, dominant, sex-linked), the Lowe's and Waardenburg-Klein syndromes, as well as Tay-Sachs disease, are reviewed. As regards the latter condition, the importance of the discovery of a deficiency of hexosaminidase A is pointed out, since the detection of heterozygous carriers, and even prenatal diagnosis, have now become possible for this disease.
The Ethics of Genetic Counseling
Authors: O'Reilly Sean 
Published: July 2016

Amniocentesis was developed as a therapeutically-oriented procedure, and still is when performed in the third trimester of pregnancy. But mid-trimester amniocentesis (14th to 18th week) is at present applied only for eugenic reasons: (1) to determine the sex of the baby, (2) to diagnose the presence and nature of a chromosomal disorder, (3) to diagnose an inborn error of metabolism by an appropriate enzyme assay on cells cultured from amniocentesis-obtained fluid.Since most of the diseases that can be diagnosed in this way are not treatable as yet, antenatal diagnosis is used only to inform the parents and/or facilitate selective abortion of defective babies or carriers. It is obvious that ethical principles must be applied to human acts such as these. These principles applied depend on the philosophical and religious views one brings to bear on such problems.It is suggested that standards derived from a secular humanist philosophy, such as the ‘good’ of society, familial or parental ‘good’, a ‘natural’ standard such as ‘quality of life’, are all inadequate and indeed dangerous.The argument is presented that these grave issues can safely be resolved only in an ethical system that is based on optimal value judgements; they will be optimal if they are informed by a sound metaphysics of being, and suffused by the light of a vision of man derived from Divinely-revealed truth as transmitted chiefly by the teaching authority of the Church founded by God.
Hereditary Myopathy, Oligophrenia, Cataract, Skeletal Abnormalities and Hypergonadotropic Hypogonadism: A New Syndrome
Authors: Lundberg P.O. 
Published: July 2016

A new syndrome in three siblings, a man and two women, now aged 33-45 years, is described. The syndrome consists of the following symptoms:1. Oligophrenia (IQ about 30, Terman-Merrill test) with harmonic infantilism.2. Dense cataract with onset in childhood.3. Myopathy, mainly affecting proximal muscles but also facial, masticatory, and external ocular muscles. The myopathy probably had its onset at puberty and progressed, in 2 of the 3 siblings until they were confined to a wheel chair.4. Signs of pyramidal tract involvement and slight ataxia, probably congenital and nonprogressive.5. Deficient speech development.6. Skeletal changes including thoracic deformity, scoliosis, pes planovalgus, shortening of the fourth toe, and osseous dystrophy especially in the hands and feet.7. Hypergonadotropic hypogonadism with primary amenorrhea in one of the sisters, very early menopause in the other and pronounced testicular atrophy in the brother. There were no signs of other endocrine insufficiency and the secondary sex characters, body hair distribution and libido were normal. The karyotype was normal in all three siblings. The heredity was considered to be probably autosomal recessive. Since, therefore, a number of independent organs were affected, the syndrome has been assumed to be caused by a penetrating metabolic defect the nature of which is unknown.
The Characterisation of Individuals with Respect to Wilson's Disease
Authors: Sean O'Reilly  
Published: July 2016

In the case of heredo-familial diseases it is desirable to identify the abnormal genotype, the homozygously abnormal individual, if possible while still asymptomatic, and the carrier of the abnormal gene or allele, the heterozygote.So far as Wilson's disease is concerned, it is possible to diagnose individuals as presymptomatic homozygotes by finding Kayser-Fleischer corneal rings on slit-lamp microscopy, or by demonstrating increased liver-copper on needle biopsy.False-negative results are common, however, and more reliable identification of the presymptomatic homozygote as well as the heterozygote can be achieved by studies of the physiology of copper, using tracer doses of radioactive copper, 67copper, which has a physical half life of about 61 hours. Using this method it can be shown:1. That there is prolonged retention of copper in the whole body in both homozygotes and heterozygotes, the former showing more prolonged retention than the latter.2. In both there is retention of copper in the liver, again more marked in the homozygote than in the heterozygote.3. There is decreased intestinal excretion of copper in both cases as manifested by decreased biliary radiocopper and decreased stool radiocopper, and again this is most marked in the homozygote.4. Urinary excretion of radiocopper is usually increased significantly in the homozygote, but is usually normal or only very slightly increased in the heterozygote.5. The additional finding of impaired ceruloplasmin biosynthesis is sufficient usually to distinguish with certainty between the presymptomatic homozygote and the heterozygote.
Anomaloscopic Survey of Blue-Yellow Defects Among School Children in Santiago
Authors: Cruz-Coke R. , Rivera L. , Mardones J. , Valenzuela C.Y. 
Published: July 2016

A survey of color vision defects was performed on a random sample of 138 Santiago male school children aged 14-15 years. Over-all incidence of red-green defects was found to be 4.34 percent. Blue-yellow minor defects were found in 17 cases (12 percent). The following major defects were found: extreme tritanomaly plus extreme tetartanomaly (1 case), and extreme tetartanomaly plus weak tritan defects (2 cases).These results suggest a probable incidence of 2.16 percent of congenital blue blindness in the general male population of Santiago, Chile.
Multiple-Pregnancy Duration
Authors: Milewicz S. 
Published: July 2016

Pregnancy duration was examined in 389 multiple pregnancies out of 29,656 general deliveries. Mean duration of multiple pregnancy appears to be 258.5 days, i.e., 23.1 days shorter than general pregnancy, which is statistically significant (t = 32.16, P < 0.001).There is high linear positive correlation between fetal weight and length, and between these and maternal abdominal circumference. A highly significant multiple correlation exists between fetal weight and length and maternal abdominal circumference in multiple pregnancy.