bluuebunny/crossref_metadata_2025 huggingface dataset:
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.
Distribution of ABO and Rhesus Blood Groups in G6PD Deficient Chinese and Malay Newborns
Authors: Saha N. , Hawkins B.R. , Wong H.B.
Published: July 2016

The distribution of ABO blood groups was studied in 459 Chinese and 65 Malay newborns with deficiency of G6PD, and in 1181 Chinese and 535 Malay newborns with normal levels of the enzyme. Similarly, the distribution of Rhesus blood groups was studied in 248 G6PD deficient Chinese newborns and in 255 normal subjects. No association between the ABO blood groups and G6PD deficiency was observed in either Chinese or Malays. For the Rhesus system there was found to be a statistically significant decrease in the frequency of genotypes containing the complex R1 in G6PD deficient subjects compared with that in normal subjects.
Phenylthiocarbamide Taste Threshold Distribution Among the Rastogis of India
Authors: Rastogi Sudha , Tyagi Deepak
Published: July 2016

The PTC taste threshold distribution has been examined among the Rastogis and compared to those of other Indian caste groups of Uttar Pradesh.
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.
Chronogenetics and Association Index
Authors: Gedda L. , Brenci G. , Fusco C. Di
Published: July 2016

The results of a study on the chromosome association index carried out on a sample of singletons and on a sample of MZ and DZ twins, all of different age groups, lead to tentatively conclude that the reduced efficiency of mitotic genotypes, as reflected by the phenomenon of association, is genetically conditioned.
Progressive Muscular Dystrophy: Chronogenetic Aspects
Authors: Porto G. Del , Brenci G.
Published: July 2016

A sample of sibships with two or more members affected by progressive muscular dystrophy has been drawn from the Mendel Institute's Eugenic Counseling file and examined with respect to the age of onset of the pathology (its clinical varieties being taken into account) in the members of the same sibship. Significant correlations have been found, thus suggesting the existence of characteristic ages of onset within each family.
Chronogenetics of Psoriasis
Authors: Cavalieri R.
Published: July 2016

The results of a study based on(1) a sample of 9000 cases of psoriosis, (2) a more specific sample of 2000 patients of psoriasis with one family member also affected, and (3) a small sample of affected twins, lead to the tentative conclusion that disposition to psoriasis may well be the result of a differential time of decay of the genetic information.
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.
Laser Perimetry: Comparison of Conventional and Laser Data in the Chiasmal Syndrome
Authors: Bartoli F. , Liuzzi L.
Published: July 2016

Campimetric pictures in several cases of chiasmal syndrome are presented. Comparison between white light and laser visual field data shows that earlier and more precise evidence of visual field defects is obtained with the latter method.
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.
Perinatal Mortality of Twin Fetuses and Newborns
Authors: Robaczynski J. , Robaczynska G.
Published: July 2016

Out of 446 twin births in 1946-1971, 177 (19.8%) were stillborn or perinatally dead. The main reason of twin perinatal mortality is prematurity, which is also confirmed by clinical and anatomopathologic findings. The essential role in the reduction of perinatal mortality is being attributed to ambulatory “K” Centres through early diagnosis of multiple pregnancy and pregnant women hospitalization at 30-32 weeks of pregnancy.
Complications of Multiple Pregnancy. Observations on the Danzig Population over Twenty Years
Authors: Metler St. , Metler S. , Rudzinski J. , Mierzejewski W.
Published: July 2016

The complications of multiple pregnancy have been studied in a total of 619 cases of multiple pregnancies followed in the Danzig Department of Obstetrics and Gynecology from 1953 to 1972. On the basis of the results obtained, early hospitalization is recommended in cases of multiple pregnancies.
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.
Maternal Pregestational Weight and Multiple Pregnancy Duration
Authors: Konwinski T. , Gerard C. , Hult A.M. , Papiernik-Berkhauer E.
Published: July 2016

Statistical studies have shown a significant correlation between maternal pregestational weight and duration of pregnancy (i.e., a low weight may cause a shortening of pregnancy). Duration of pregnancy is further correlated to the weight gain (i.e., it is shortened by an insufficient gain). This phenomenon is observed in thin women, but not in women of heavy weight before the pregnancy.

The studies of weight losses obtained through hypocaloric or sodium-free diets or diuretics, show that a sudden weight loss may cause a shortening of pregnancy duration. This is verified in patients with normal or insufficient weight gain and starting with a normal or small weight, but not in overweight patients or with an important weight gain.

This study demonstrates the dangers of excessive measures toward prevention of toxemia. The decision of compulsive weight loss in mothers with multiple pregnancy must be well thought and carefully applied, for excessive measures could reduce the duration of pregnancy and thus increase the risks of perinatal death.
Early Diagnosis of Multiple Pregnancy
Authors: Sieroszewski J. , Fijalkowski W. , Piechowiak Z. , Wilczynski J. , Doroszewski A.W.
Published: July 2016

The possibilities of early diagnosis of multiple pregnancy are shown, which helps to prevent and reduce the incidence of premature deliveries.
Results of a Specialized Preventive Care in Women with Twin Pregnancy
Authors: Horsky J. , Fialova Z.
Published: July 2016

In a series of 114 twin pregnancies followed in the course of 12 years (1961-1972) we noted the favourable effect of specialised preventive care. More exact diagnostics (ultrasound scanner) shifted the recovery of twins from the 35th to the 30th week of pregnancy. Due to the therapeutic and preventive bed rest and to the systematic use of orciprenalin, the duration of pregnancy has been prolonged from 36 to 38.5 weeks on the average. The perinatal mortality in twin deliveries decreased from 14.4 to 5%.
Management of Twin Labor
Authors: Sternadel Z. , Lysikiewicz A.
Published: July 2016

Investigations were carried out on 68 labors in twin pregnancies. It was observed that, upon stimulation of uterine contractions by means of oxytocic agents, mainly oxytocin (90%), the mean duration of labor was significantly reduced to about 7 hours, and prolonged labors (over 20 hours) were completely eliminated. The time between delivery of the first and the second baby is now below 30 minutes in all cases, and this is regarded as the optimum time. No neonatal deaths were observed in labors taking place at term. The condition of the newborns at birth was estimated in accordance with the Apgar score and it was found that the second newborn scored worse than the first one; a fact definitely related to the higher proportion of operative procedures during delivery of the second twin (48%) as compared to the first one (10%).

The authors stress that, owing to the introduction of the method of conducting twin labors, maternal mortality has been completely eliminated and twin perinatal mortality has been markedly reduced: from about 28% in 1923-1962 to about 10% in recent years.
Newborn Twins
Authors: Bienkiewicz L. , Pogorzelska E.
Published: July 2016

An analysis of the neonatal period of 277 twins was carried out and the results were compared with those of a control group. The conditions of the twins are significantly worse than those of singletons. This is due to the increased possibility of hazards of pregnancy and labor, as well as to prematurity and intrauterine malnutrition of the babies.
Psychomotor Development and the Postnatal Fate of Children from Multiple Pregnancy
Authors: Osuch-Jaczewska R.
Published: July 2016

The psychomotor development of 130, one- to nine-year-old children was followed. Their development was not, as a rule, found to occur abnormally.

The further development of twins was found to be in close correlation:

(1) with the condition after birth (43% of complications in the further development of children having at birth a 1-7 Apgar score);

(2) with the weight at birth (35.2% of complications in a weight group of 1001-1500 g): this is connected with dystrophy and prematurity;

(3) with the order in which the twins were born.
The Mental Development of Children from Multiple Pregnancy
Authors: Slenzak J. , Brincken M. , Chrzanowska D. , Kulinska E. , Zorska K.
Published: July 2016

A total of 59 children from multiple pregnancy, aged from 18 months to 13 years, have all shown a mental development within or above normal limits.

In 18 children there are reasons to suspect the presence of a CNS lesion, although the general mental level is good.

The numerical concordance of intelligence quotients is not typical for MZ and DZ twins. In four cases there were marked qualitative differences despite IQ concordance.

The behavior of twins in their home, preschool, and school environment, is determined by the separate nature of the relationship in which the twins live since birth.
Uniovular Quadruplets of Wroclaw
Authors: Nowakowski T.K.
Published: July 2016

Four boys, born in 1954 as uniovular quadruplets, live in Wroclaw, Poland. This is a unique case in the world. Their uniovularity was proved as a result of serological analyses.

Despite the fact that one of the boys was seriously injured during the labor (he suffered from one-sided paresis and deafness) and lived in special conditions, all the boys are identical and they develop identically.

Genetic factors seem to be more important, in the shaping of the phenotype, than the influence of environment.
Genealogical Blood-Group Analyses of the Danzig Quintuplets
Authors: Raszeja S. , Krueger A.
Published: July 2016

Blood groups of the Danzig quintuplets and their family were determined in order to establish whether they are mono- or polyzygotic in origin. Results of blood grouping showed that they come from a quintovular pregnancy. A pedigree of the quintuplets family is given. The following blood-group systems were tested: ABO, MN, Rh (Cw, C, c, D, E, e), Kell, haptoglobins, Gm1, and erythrocyte acid phosphatase.
Oocyte Overripeness Relation to Multiple Pregnancy An Epidemiologic Study
Authors: Papiernik-Berkhauer E. , Ades A. , Konwinski T.
Published: July 2016

A total of 116 cases of multiple pregnancy has been observed in a 5-year period. MZ twin pregnancies appear to be significantly increased in the maternal age group 31-35. Also significant is the higher frequency of abnormal cycles in MZ twin pregnancies. Family incidence of twins is more significant in mothers of DZ as compared to MZ twins.
The Placenta and Zygosity of Twins
Authors: Nylander P.P.S.
Published: July 2016

Macroscopic examination of the placenta and histological examination of the membranous partition between amniotic sacs was peformed in approximately 1400 twin maternities in Ibadan, Nigeria.

Monochorionic placentation is mainly characterised by two layers (as opposed to four in the dichorionic one) in the dividing septum between the two amniotic sacs, as well as by the absence of a membranous ridge of tissues at the base of the septum, that is instead present in the dichorionic one.

Monochorial twins appear to be invariably MZ, whereas dichorial twins may be either MZ or DZ. In the present study the chance of being DZ was 95% in the case of single and of 99% in the case of double dichorionic placentation.
A Survey of Twins in the Population of a Prospective Collaborative Study
Authors: Myrianthopoulos Ntinos C.
Published: July 2016

This report is concerned with the twin births which occurred in the Collaborative Study of Cerebral Palsy, Mental Retardation and Other Neurological and Sensory Disorders of Infancy and Childhood. This is a collaborative endeavor of 14 institutions throughout the US and the National Institute of Neurological Diseases and Stroke, to observe and study factors which affect the parents before a child is born and to relate them to the outcome of pregnancy. To this end, we are following approximately 60 000 pregnant women from the first months of their pregnancy, through labor and delivery and up to the seventh year of the study child's life. The Study population is about 46% White, 46% Negro, 7% Puerto Rican, and the rest a variety of other ethnic groups. The prospective nature of the study makes possible the recording of observations with high accuracy and the avoidance of biases inherent in other types of investigations. These advantages should also be reflected in the collection and evaluation of twin data.
Cancer in Twins: Concordance or Discordance?
Authors: Keith L. , Brown E.
Published: July 2016

Although published reports of cancer in twins are not numerous, there are case reports of concordance in a variety of tumors in twins. Cancer of the breast is most frequent; concordance has also been noted in uterus, gonads, eyes, stomach and rectum. In general, these reports tend to support the theory that genetic factors operate either in the concordance of cancer or in the site of the specific tumors. The significance of concordance remains in doubt, however. Reported study groups are not comparable because the materials and methods are disparate. In many reviews the methods of zygosity determination are questionable. The fact that not all cases of cancer in twins are reported introduces a constant source of bias. The following review illustrates this well.

In 1940, Madge T. Macklin reviewed the publications of tumors in MZ and DZ twins and concluded that tumors affected MZ twins far more than both members of a DZ pair. She observed concordance in tumor type, site, and age of onset, as more frequent in MZ than DZ twins. She later (1947) reexamined the same material and some additional twin pairs and concluded that MZ twins have identical tumors far more frequently than DZ twins. She emphasized that rare types of tumors were genetically determined.

In 1948, Busk et al reported on a series of 185 twin study pairs from the Danish Cancer Registry; they concluded that (1) there was a tendency toward a higher incidence of cancer in partners of MZ than of DZ cancerous twins; (2) these deviations from expected values were not considered statistically significant; and (3) there was a tendency for tumors in MZ twins to affect corresponding organs in both partners, this being not the case in DZ twins.
Cancer in MZ and DZ Twins
Authors: Cederlöf R. , Floderus B. , Friberg L.
Published: July 2016

Important works on the question of hereditary influence on the occurrence of cancer with application of twin series are those by v. Verschuer and Kober (cf. Spranger and v. Verschuer, 1964), Jarvik and Falek (1961) and Harvald and Hauge (1963). Their findings are by and large consistent with most earlier reports (Schull et al, 1959) and indicate that hereditary factors do not seem to influence the development of cancer as such, but possibly play a role in the localization of the tumor. In view of the fact that (except for Harvald and Hauge's investigation) the twin series studied have been comparatively small and yielded statistically unreliable numbers of cancer of specific site, it seems to be of value to extend the data by reporting findings from the Swedish Twin Registry, comprising about 11000 unselected twin pairs.

The present paper reports mortality and morbidity in cancer of different site as well as concordance rates for MZ and DZ twins. In addition, the influence of smoking habits on cancer development has been analyzed, as this environmental factor is known to be associated with certain forms of cancer, particularly lung cancer (Smoking and Health, 1964).

Cancer data have been obtained from two sources, the Swedish Cancer Registry and the Registry of Causes of Death.

The Swedish Twin Registry in the present report comprises 10 945 twin pairs, and covers, in principle, all same-sexed twins born in Sweden in 1886-1925, and still living in the country as unbroken pairs at the time of compilation (1961). A detailed report of the compilation procedures and demographic data is given by Cederlöf (1966).
Fetal Acidosis in Second Twins
Authors: Derom R. , Thiery M.
Published: July 2016

Acid-base balance was analysed in cord blood after normal spontaneous delivery of twins. Whereas in the first twin the balance results entirely comparable with that of normal singletons, second twins exhibit most of the time some pathological degree of acidosis, the cause of which is intrauterine hypoxia.

The importance of this phenomenon is discussed in relation to the conduct of labour and the value of the twin method in genetical investigation.
Gemelliparità Secondaria a Terapia Ormonale
Authors: Gedda L. , Bolognesi M.
Published: July 2016

Circa un anno fa, uno di noi teneva una relazione sulla genetica della sterilità al Congresso Argentino di Ostetricia. In quell'occasione fu richiesta una valutazione scientifica della gemellazione provocata dalle cure ormonali della sterilità. Risultò così che una rassegna dell'argomento non esiste; nacque allora l'idea di una inchiesta che abbiamo realizzato nei mesi scorsi e di cui riferiamo i primi risultati.

La nostra inchiesta riguarda l'induzione del concepimento gemellare in seguito a trattamento antisterile: (i) mediante gonadotropine; (2) mediante clomifene; (3) mediante altre terapie.

Inoltre, essendo state segnalate gemellazioni secondarie a sospensione di trattamento antiovulatorio, abbiamo chiesto informazioni sul concepimento gemellare dopo trattamento con estroprogestinici.

Nella Tab. I vengono indicati gli studiosi che hanno finora risposto all'inchiesta, insieme alle rispettive località e nazioni. Le informazioni riguardano soprattutto Europa, America e Medio Oriente.
Ricerca Gemellare sul Polimorfismo delle Ceruloplasmine
Authors: Gualandri V. , Tatarelli R. , Lamparelli P.
Published: July 2016

Per diverse frazioni proteiche plasmatiche, fra le quali alcune proteine di trasporto come le aptoglobine e le transferrine, è stato osservato con metodi biochimici e/o immunologici un polimorfismo fenotipico ed è stato dimostrato un corrispondente polimorfismo genetico, risultando così definiti i gruppi plasmatici. Per le ceruloplasmine, che sono, com'è noto, le proteine plasmatiche con specifica funzione di trasporto del rame, non è stato ancora dimostrato un sicuro polimorfismo negli individui sani: la presente ricerca è appunto intesa a dimostrare l'esistenza di una variabilità individuale per questa proteina, come primo passo per poterne studiare la eventuale correlazione genetica.

É stata studiata la velocità di migrazione delle ceruloplasmine mediante elettroforesi a disco su gel di poliacrilamide: in realtà non è stato rilevato direttamente questo parametro, ma il rapporto fra lo spostamento delle ceruloplasmine e quello del Blu Bromofenolo (BBF) sottoposti contemporaneamente all'elettroforesi. Il BBF ha, com'è noto, una migrazione prealbuminica, mentre le ceruloplasmine migrano con le α-globuline: dopo l'elettroforesi e la colorazione specifica delle ceruloplasmine restano evidenti nel cilindro di gel i soli due dischi del BBF e della ceruloplasmina. Il rapporto di migrazione della proteina ripetto al BBF è stato ricavato direttamente da un tracciato elettroforetico ottenuto dalla lettura del cilindro di gel con un elettrofotometro adatto allo scopo.
Il Controllo Genetico della GlutationemiaStudio gemellare
Authors: Gedda L. , Tatarelli R.
Published: July 2016

Il glutatione è un tripeptide solforato che trova la sua specifica funzione quale sistema ossido-riduttivo a servizio della respirazione tissulare anaerobia, grazie appunto alla sua doppia presentazione nelle fasi ridotta (GSH) e ossidata (GSSG), che costituiscono, completandosi, il « sistema glutationemico ». Esso è presente nel protoplasma delle cellule viventi dei tessuti e del sangue.

Il fenomeno dell'isoglutationemia gemellare fu rilevato da uno di noi (Gedda, 1943) in una coppia di gemelli MZ, in cui il dosaggio del glutatione ematico dimostrò un'esatta corrispondenza nei due individui; i dosaggi eseguiti su di una coppia qualunque di individui non gemelli non dettero mai cifre identiche.

Altre ricerche gemellari (Gedda e Guarino, 1943, 1945; Gedda e Benigni, 1947), effettuate oltre che sull'uomo anche sul coniglio, dimostrarono che vi erano alcuni casi di discordanza glutationemica (anisoglutationemia), che però nei casi di coppie MZ era soltanto transitoria, e cioè si trasformava, in successive analisi a distanza di tempo, in una isoglutationemia. In un ristretto numero di coppie DZ Pisoglutationemia non poté mai essere dimostrata.
Comparative Analyses of Twin Data
Authors: Fulker D. W. , Jinks J. L.
Published: July 2016

The biometrical genetical method of analysis of continuously varying human traits is described and shown to unify a number of common approaches to the analysis of twin data. The method, which is based on the analysis of variance, goes beyond alternative approaches by providing tests of basic assumptions and by investigating the possibility of assortative mating and dominant gene action.

Twins form an indispensable group for the application of the biometrical genetical method but the value of including other groups, often more easily collected, is demonstrated.

The techniques are illustrated through the reanalysis of data on the behavioural measures, neuroticism and intelligence quotient (I.Q.). For both measures fundamental assumptions are met. The results suggest the absence of dominant gene action for neuroticism, indicating an evolutionary history of stabilising selection, and directional dominance for high I.Q., indicating an evolutionary history of strong directional selection. Both these findings seem reasonable in view of psychological knowledge concerning the two measures.
Models of Proband Concordance Rates for Twins in a Clinical Series
Authors: Allen G.
Published: July 2016

With the exception of disorders related to gestation and birth, twins are usually found to be medically representative of the general population; diseases occur among twins with the same frequency as among singletons. As a corollary, in a large series of twins, if members of each pair are assigned randomly to two groups, A and B, both groups will be representative of the population. For example, if a disease occurs in 1% of the population, then we can expect it in 1% of twin-group A and in 1% of twin-group B.

Tab. I diagrams a hypothetical population of 15000 twin pairs in which 1% of all persons have the disease in question. Twins A include, in the left column, 150 sick persons. Each of these has a partner, twin B, who may be either sick or well, and so the total number of pairs in the left column is 150. The figures are the same when the table is read down or across; that is, the table is symmetrical with respect to twins A and twins B because assignment to A and B was random.
Deficienza Marginale in Gemelli MZ
Authors: Gaffuri G.
Published: July 2016

I problemi eziopatogenetici riguardanti la deficienza marginale (cioè, il ritardo mentale di lieve grado: Q.I. 70-90) sono stati studiati attraverso l'osservazione di 40 coppie gemellari (20 MZ e 20 DZ) di uguale sesso, di 7-18 anni, vissuti sempre, o solo temporaneamente, in ambienti identici o differenti, presentanti entrambi un ritardo mentale di lieve grado ad eziopatogenesi sconosciuta.

Sono state raccolte 80 schede riportanti in ogni dettaglio le inchieste anamnestiche, socio-familiari e scolastiche, gli esami clinici obiettivi e di laboratorio, generici e neuro-psichiatrici.

1. Q. I. Concordanza o lieve discordanza nel 100% dei MZ, mentre nei DZ non viene rilevata in alcun caso netta concordanza: discordanze lievi nel 15% e marcate nell'85% dei casi. Che i soggetti abbiano vissuto sempre, o solo temporaneamente, in ambienti identici o differenti per condizioni di vita e di educazione, non risulta di rilevante significato.

2. Fenomenologia del disturbo. Il deficit è nel 100% dei casi di tipo settoriale. Le sue espressioni fenomenologiche nei MZ risultano perfettamente concordanti nel 65% dei casi, lievemente discordanti nel 20% e piuttosto discordanti nel 15%; mentre nei DZ portatori entrambi dell'anomalia, non viene rilevato alcun caso di netta concordanza: discordanze lievi nel 30%, marcate nel 70% dei casi. Che i soggetti abbiano vissuto sempre, o solo temporaneamente, in ambienti identici o del tutto differenti, non risulta di rilevante significato.
The Genetic Conditioning of the Mitotic Index and the Association Index of Acrocentric Chromosomes — A twin study
Authors: Gedda L. , Brenci G.
Published: July 2016

The authors have studied the variations of the mitotic index and the association index of the acrocentric chromosomes (groups D and G) in eight male twin pairs of assorted age (6 and 60 years) and zygosity. For each individual, two subcultures of peripheral blood lymphocytes have been set up by the standard techniques. After colchicine administration and hypotonic shock, two slides per culture have been prepared and stained with lactoacetic orcein, thus providing the experimental material. The study of variability between individuals, between tests and between age groups indicates the importance of the age factor for the assessment of both indexes.

The study of the variability of intrapair differences indicates that the phenomena are both statistically and dynamically genotype-dependent. The weight of heredity, in the sum of all the factors affecting the phenomena, is 0.79 for the mitotic index and 0.51 for the association index.
Variability of the Centromeric Index of Group A and Group B Chromosomes in MZ and DZ Twins
Authors: Gedda L. , Torrioli-Riggio G. , Romei L. , Silvani L.
Published: July 2016

In the course of routine work in the caryological laboratory at the Mendel Institute, we have often noticed the repetition in families, and especially in MZ twins, of alterations in chromosome morphology that can hardly be included among chromosomal aberrations proper (translocations, deletions, etc.). Since such variations do not generally reflect any pathology in the individuals involved, the occurrence of a normal morphological variability of chromosomes has been postulated.

In order to test this hypothesis, we have measured several clearly defined and standardized chromosomal parameters, obtaining the classical structure of the twin test, i.e., the comparison between experimental measures in MZ and DZ twin pairs.

The parameter that was selected for the test is the centromeric index of Group A and Group B chromosomes, intended as the ratio of long arm length to short arm length. In order to avoid method and operator influences, a pilot test was carried out, repeating five times the culture from blood of the same individual, and having the slides read by five different operators; thus, the variability due to the method and to the operator was assessed.
The Twin Clinical Method in Dermatology
Authors: Cavalieri R.
Published: July 2016

Genetic skin diseases have been considered with respect to their population and family frequencies, as well as to their concordance values, in MZ and DZ twin pairs. The clinical evolution of the disease has been further considered in its various stages and compared in MZ and DZ twins, concordant for the disease.

The material consisted of 100 twin pairs, with at least one member affected, subdivided with respect to concordance and zygosity. For each dermatosis, then, the population and family frequencies have been calculated. The following dermatoses could be studied: psoriasis, acne vulgaris, keratosis pilaris, alopecia areata, epidermolysis bullosa and dermatitis seborrheica.

A high concordance of clinical evolution in MZ twins has appeared to correspond to a low frequency of the disease, while a high frequency appears to correspond to low concordance values. This finding may be very useful for a better understanding of the disease's inheritance, as well as of its penetrance and expression.

It has been finally possible to evaluate the hereditary quantum vs. the environmental one in the determination of a dermatosis, by means of Holzinger's coefficient of heredity (H). The estimates of the latter vary from 35 to 50% in the various dermatoses examined.
Genetic Components in Motivational Aspects of Character
Authors: Oancea-Ursu G.
Published: July 2016

This report deals with the nature-nurture problem in relation to some primary aspects of character in normal twins and siblings; namely, on 12 primary impulses, or propensities, whereon reports of detailed study are rare. These factors form the energetic side of any human being's behavior and thereby the native equipment in anybody's character: its units of composition. In agreement with Galton's dichotomy of intellect and character, the latter actually makes up the second half of our personality's organization: its motor area.

In the search for character roots through the interaction of heredity and environment, Galton was the first to bring out, through pedigree studies, the existence of noticeable hereditary components. However, as to inquiries by twin method, character is in a far less satisfactory status than any of the other heritable traits of personality. So far, we know neither the possible genetic stability of those primary impulses which in clinical experience passed for the most forcible, nor the degree of peristatic plasticity of those which might admittedly be the most docile.

A sample of 44 MZ and 41 same-sexed DZ twin pairs and 39 pairs of siblings were administered a standard battery of 120 questions of the Self-Rating Questionnaire type. For each pair, individual scores, as well as intrageminal differences, were worked out.
Crime in a Danish Twin Population
Authors: Christiansen Karl O.
Published: July 2016

The results of the small number of existing investigations of criminality among twins have mostly been considered as contributions to the discussion of the relative importance of heredity and environment. I attempt to look at the problem in a slightly different context, but find it useful to give a brief summary of the older investigations. The results of previous studies utilizing the twin method to throw light on the problem of crime appear from Tab. I.

I am sure you will remember Lange's conclusion from 1929: “ As far as crime is concerned, MZ twins on the whole react in a definitely similar manner, DZ twins behave quite differently. In accordance with the significance of the twin method we must conclude that innate tendencies play a preponderant part among the causes of crime”.

There is one fundamental assumption behind the conclusions about the heredity of criminal behaviour, which is not fulfilled. The environment of each of the two twins in a pair must be equally similar or equally different, irrespective of zygosity. However, the milieus of the cotwins in a DZ pair are in fact more different than in a MZ one.

The Danish study is carried out in cooperation with the Danish Twin Register (Harvald and Hauge, 1965). The material consists of data about nearly 6000 pairs of twins, i. e., all twins born on the Danish islands in 1881-1910, where both twins have survived to the age of at least 15 years. The source material may be considered complete. About 900 pairs have been entered into the Central Police Register and/or into the local penal registers.
A Twin Study of the Influence of Smoking on Morbidity and Mortality
Authors: Hauge M. , Harvald B. , Reid D. D.
Published: July 2016

The Danish Twin Register, which comprises all twins born in Denmark between 1870 and 1920, has been used for studies of selected problems in the field of epidemiology and public health. This report gives a survey of the preliminary results of an investigation of this type, which intends to amplify the present knowledge about the possible harmful effects of smoking on health, by taking advantage of a twin material which makes it possible to keep the genetic factors under control.

A series of 762 MZ and same-sexed DZ twin pairs, which had their smoking habits mapped in 1959, has been followed continuously, and the mortality which has occurred in this group has been analysed in relation to tobacco consumption. Neither MZ nor DZ pairs showed any tendency to increased mortality in the heavier smoking cotwins. When the material was subdivided according to cause of death, no conspicuous exception from the general pattern was found, but the subgroups were relatively small.

The distribution of selected diseases and symptoms, mainly of the cardiovascular and respiratory systems, was studied in this and a second series, followed since 1966, with a total of 1584 pairs.
Effects of Melphalan on a Sensitive and a Resistant Yoshida Ascites Tumour
Authors: Cooper E. H. , Topping Norma E.
Published: July 2016

The mode of action of the alkylating agent Melphalan on Yoshida ascites tumours resistant and sensitive to alkylating agents in rats has been studied. A combination of autoradiography and analytical histochemistry has been used to measure changes in the cell kinetics. The sensitive strain showed a marked fall in mitotic index, build up in G2 and finally interphase death occurring 24-72 hours after treatment. The resistant form showed only slight mitotic inhibition and a possible recovery phase 24-30 hours after treatment, without evidence of cytological damage.
Cytologic dysplasia after treatment with antimitotic agents
Authors: Baserga A.
Published: July 2016

Antimitotic agents induce pathological alterations by suspension of the normal cellular renewal: it results the picture of the so called « aregenerative pathology ». Moreover, they induce cytological abnormalities, like cellular vacuolization, alterations of the enzymatic cellular pattern, cellular giantism, etc. These alterations constitute the « cytological dysplasia by antimitotic drugs ». They are easily recognizable in many organs, i.e. in the haemopoietic system, lungs and pancreas. Particularly evident is the cellular giantism in the labial epithelia: in some of these cells of gynecologically normal women two Barr bodies are observed.
Role of Methylhydrazine in the treatment of Hodgkin's disease
Authors: Introzzi P. , Marinone G.
Published: July 2016

The Authors analyse the action of MH on the chromosomes of normal myeloid cells. They evaluate the indications, therapeutic activity and the limits of this substance on Hodgkin disease.
Treatment of some chronic hemoblastoses with a derivative of Methylhydrazine (Natulan)
Authors: Quattrin N. , Montuori R.
Published: July 2016

Notre expérience clinique sur le Natulan est encore plutôt limitée. Depuis six mois seulement il nous a été possible obtenir ce médicament et nous n'avons traité jusqu'à présent que seize malades, tous par thérapie orale.

Dans le tableau suivant nous indiquons les maladies dont étaient atteints nos patients et le résultat du traitement.

Quelqu'une de nos observations mérite un bref commentaire.

Le premier malade que nous avons soumis au traitement était atteint de M. de Hodgkin généralisée, désormais insensible à toute thérapie connue. Le malade était en effet très près de la mort. Et bien, le Natulan eût une influence bénigne dramatique, soit pour la rapidité, soit pour l'entité de la rémission. Mais après un mois il y eût une rechute et, malgré la therapie d'entretien, le patient est mort en cachéxie. Dans ce cas nous n'avons pas observé de phénomenès toxiques sévères sauf une légère polynevrite des membres inférieurs.

Il faut encore remarquer que le Natulan a été actif aussi contre des hémoblastoses différentes de la M. de Hodgkin, c'est-à-dire le myélome, la M. de Waldenström et le lymphosarcome. Mais dans ces cas les rémissions ont été relativement plus rares et moins remarquables que dans la M. de Hodgkin.