bluuebunny/crossref_metadata_2025 huggingface dataset:
Cheratosi palmo-plantare e allotopa associata a grave malattia dentaria in due fratelli mononati
Authors: Gedda Luigi , Pignatelli Adele
Published: July 2016

The Authors have studied two sibs, 20 and 6 years of age respectively, which show hereditary cheratosis of the palms and sales, with spots of cheratosis in other loci too, in addition to dental dystrophia and expulsive gingivitis.

From the genetical point of view the most important factor is that neither parent is affected by the condition which on the other hand is generally considered as dominant.

The Authors suppose that the morbid genotype comes from the father's side of the family tree.
Quintuplet and sextuplet births in the United States
Authors: Nichols John Benjamin
Published: July 2016

In the course of study and publication of various aspects of natality and birth statistics, the writer has had occasion to unearth and compile the reports and records of quintuplet and sextuplet births which have occurred in the United States. Seventeen cases of such quintuplet births have been found, mostly well attested; and five of sextuplets, two well attested and three not completely verified.

The source, character, and reliability of the information on which the records of quintuple and other high multiple births are based are matters for careful consideration and evaluation.

Of the 17 quintuplet cases here reported 12 may be accepted as well verified: either on the authority of the attending physicians by their reports published in medical journals, by formal certification of the births to public registries of vital statistics, and statements obtained by personal correspondence. Most of the cases were reported in the newspapers; but such accounts, especially of local and contemporary cases, publicised by responsible newspapers and news-gathering agencies, may usually with due discrimination be accepted as quite reliable, especially when substantiated by photographs or verifiable from other sources. The information concerning one case is derived from a newspaper account which there is no reason to question; two of the cases (1826) were reported in a high-class newspaper nearly a year later from the physician's old records; one news story is quite hearsay in character; and one case is based on family statements lacking in specific details.
Concordant primary atrophy of the cerebellar granules in monozygotic twins
Authors: Jervis George A.
Published: July 2016

The case is described of monozygotic twins similarly affected with a form of cerebellar atrophy characterized by primary lesions of the granular layer. The clinical and pathologic aspects of the disease are briefly discussed and the role of genetic factors in the determination of the condition emphasized.
Beitrag zur Erblichkeit der Hirngeschwülste (Vorläufige Mitteilung)
Authors: Koch Gerhard
Published: July 2016

1. Investigations carried out on twins and the families have revealed that within the major group of brain gliomatosis and glioblastomatosis there is a minor group (up to day) of accumulated familiar clinical cases.

Topographically, they are tumours localized in the region of the ventricular germinative centres, that is to say, in the background of the brain (they are not cortical gliomas!). They depend on the disturbances and inhibition of the matricial cellules on the ventricular wall towards the cerebral cortex. Histologically they are considered as dysplasias with a blastomatosis character, that is to say, neoplastological productions on an heredogenetic basis the cause of which lies in histological disorders, disontoge-netic, and therefore, congenital.

2. A work hypothesis is settled and established according to wich 2 factors at least are necessary for the formation of a tumour: a local one, hereditary: the neuroglial dyplasia in the region of the ventricular germinal centres with a tendency to tumours degeneration; and another or several general factors dependent on endogenous and exogenous influences, which on account of a disturbance of the general constitution (for example, hormone mechanisms of puberty, of the premenopause and of the beginning of the involution) which would allow the tumour to develop starting with the tumours genetic disposition.

3. At the present time it is not known whether the genesis causing this neuroglial dyplasia and the concomitant malformations of other organs, sonsists in the mutation of a gen, since so far the gen is ignored as well the pleotropic effet of the action developed by the gen.

4. The fact, that within the major group, in the majority of cases evidently not hereditary of gliomatosis and glioblastomatosis, there should appear a minor group, hereditary, must be considered, within the general investigation of the neoplasias, as a further proof that the essential thing of the hereditary predisposition to the development of tumours, must be considered as a specific local factor.

5. The attention is called to the possible existence, within the astrocytomes of a small hereditary group of familial cases.

6. The casuistry so far known has been enlarged with 20 cases (discordant) of twins and 6 observation in families which were compiled at the Neurological Clinic of Miinster Westfalen University.
Gene und Phänokopien in der Ätiologie menschlicher Missbildungen
Authors: Grebe Hans
Published: July 2016

Report about the problem of hereditary and non-hereditary causes of some typical human malformations by genes and phenocopies.

The example of mongolism shows that besides a genetical cause in some cases the opinion of a «dysplasmatical» origin in others is well proved.

Malformations of the medullar part of central nervous system, especially their severest forms as anencephaly and spina bifida aperta can be inhereted or non inhereted.

The German statistics after last world war (especially in the Russian zone) show, that anencephaly and spina bifida are most phenocopies.

Harelip and cleft palate are inhereted in the rule.Phenocopies are rare.

Malformations of the extremities are more inhereted than non inhereted. There are phenocopies, but more seldom than pathological genes. Their possibility is also given by the example of the well known experiments.
Über die Vierfingerfurche und ihre Übergangsformen, insbesondere bei Zwillingen
Authors: Tillner Irmgard
Published: July 2016

We researched a total number of 3974 persons for the frequency of simian lines and all the material is based on 375 monozygotic, 360 dizygotic, 226 twins of different sex and 2045 single persons of two groups of the population. We classified the material collected into three degrees of impress of the simian line: a little form « 3 », a middle form « 2 » and the classical simian line, called form « 1 ». The form « 3 », which was more frequent to be seen than the form « 1 » and « 2 » seems to contain characteristics of « accidental » genesis without any relation to classical simian lines. That was to be found especially in the case that the little form was only on the surface of one hand. In contrast to that the form on both hands allows the deduction, that there must exist a relation to simian lines. The relations between the forms « 1 » and « 2 » are more evident than these of the little form « 3 ».

The classical simian line seems to be more frequent on the left hand and with the male sex than on the right hand and with the female sex. This picture is a counterpart to the behaviour of thenar patterns.

The result of the average population ist applicable to twins, too. Furthermore it was possible to show by arithmetic, that the concordant reactions of the monozygotics and the discordant reactions of the dizygotics are based on the hereditary character of simian lines and their transitional forms. There is a remarcable difference between monozygotic and dizygotic which is caused by the fact, that discordance of monozygotic is to be found in the case that one partner is one-sided affected with. Moreover the discordant forms become less frequent, if the degree of impress increases. The dizygotics are in the inverse ratio.

The absolute concordance, too, that means the same degree of impress on the same hands of both partners, is more frequently to be found in the case of monozygotic than in the case of dizygotic.
Congenital Malformations, Twinning and Associated Variables in a Brazilian Population
Authors: De Araújo Aldo M. , Salzano Francisco M.
Published: July 2016

A sample of 6052 newborn children (4968 whites, 1084 Blacks) issued from parents with a generally low socioeconomic level, was studied in relation to congenital anomalies and twinning rates.

The observed frequency of major malformations was 1.3% and of minor defects 2.0%. The twinning rate was 1.4%. Race differences were generally nonsignificant in these variables. These results are in agreement with those obtained in some other Brazilian series, but discrepancies were also observed.

A total of 13%0 of the malformations observed proved to be familial, Polydactyly being the most common anomaly encountered in this class. The frequency of malformations different from those present in the propositi is higher in their sibships than the general prevalence of defective children found among the sibs of normal babies (13% and 4% respectively).

Age, gestation length and exposure of the mothers to noxious agents during pregnancy were not significantly different when the parents of normal and malformed children were compared. On the other hand, as expected, the parents of twins are significantly older than those of single-born, and the gestation length was much reduced in pregnancies resulting in multiple births.
An Unusual Case of Hemoglobin Bart's Hydrops Fetalis
Authors: Halbrecht I. , Shabtai F.
Published: July 2016

A baby with alpha-chain thalassemia hydrops fetalis was born to an Iraqian Jewish couple of Iraqi-Kurdish extraction. Hemoglobin Bart's constituted only 40% of the total hemoglobin, much less than usually found in alpha-thalassemia hydrops fetalis.

That this is a particular expression of hemoglobin H disease is considered. The likelihood of two alpha-chain loci, rather than one alpha-chain locus, in this family, is also discussed.
Chronogenetics. Its Foundations, Scope, and Impact
Authors: Gedda L. , Brenci G.
Published: July 2016

Many chronological correlations in different plant and animal species, in populations, in human families, and between cotwins, prove the existence of characteristic biological times. Some such times also tend to be related to cosmic time, in which they develop and from which they are induced, resulting in peculiar composite times, such as the daily, monthly, or annual rhythms, that are the object of study of chronobiology.

Beyond these examples of exogenous chronological induction, the existence of a hereditary biological time is postulated, as the basic phenomenon in the relationship between time and life. The newborn scientific branch of “chronogenetics” is devoted to the study of the fundamental, endogenous genetic time, with its theoretical and practical, normal and pathologic implications. To explain and interpret the mechanisms of the hereditary biological time, the authors have developed a model based on the concepts of “ergon” (i.e., stability of the gene) and “chronon” (i.e., lifespan of the information). This Ergon/Chronon System is related to the gene, bringing into focus the fourth dimension and the dynamic aspects of unit of inheritance.

The applications of chronogenetics extend to every expression of life, from the most primitive unicellular to the higher plants and animals. In the area of normal human traits, the study of the hereditary biological time contributes significantly to the interpretation of such phenomena as development, reproduction, homeostasis, and senescence. In the area of medicine, chronogenetics interpretes, unifies, and develops the temporal phenomena of inheritance. In a future perspective, chronogenetics appears to be fundamental for eugenics, preventive medicine, and prognosis.
Visual Function in the Syndrome: Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, and Hearing Loss
Authors: Brunette Jean-Real , Little John M.
Published: July 2016

Since the late thirties a syndrome has been progressively completing its description. It consists essentially in juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss and optic atrophy. Neurosensory hearing loss, neurogenic bladder, autonomic dysfunction and hyperalanineuria have been added. The syndrome is generally familial.

Electrophysiologic and psychophysiological retinal studies have been done in these cases. Profound electrophysiological disturbance has been described. Cases under actual evaluation are presented. Physiopathologic processes remain a problem. The nature of the retinal affection is also open for discussion.
Infantile Type of So-Called Neuronal Ceroid-Lipofuscinosis
Authors: Santavuori Pirkko , Haltia Matti , Rapola Juhani , Raitta Christina , Keranen Antti
Published: July 2016

Attention was recently drawn to a progressive encephalopathy with early amaurosis. The disease has its clinical onset at the age of 8-18 months with rapid psychomotor deterioration, ataxia, muscular hypotonia. In the 45 cases examined microcephaly and myoclonic jerks were other prominent features; convulsions were few or did not occur at all. In all patients the disease reached a burnt-out stage during the third year. After the age of 5 years all children had a permanent increased flexor tonus in all limbs and flexion contractures were common. The mean age of death was 7.6 years. Early extinction of ERG, typical ophthalmological findings, and EEG records rapidly approaching isoelectricity were additional features.

The disease has an autosomal recessive mode of inheritance. A total of 52 cases are known in Finland. Histologically, an almost total destruction of cerebral and cerebellar neurons was observed. The surviving neurons and glial cells contained granular material which histochemically resembled lipofuscin but ultrastructurally differed from those in earlier reported patients with neuronal ceroid-lipofuscinosis. The cases observed seem to form a clearly separable infantile type of so-called neuronal ceroid-lipofuscinosis.
Retinal Renal Dysplasia and Encephalopathy in a Patient with Triglyceride Storage Disease
Authors: Philippart M. , den Tandt W. , Borrone C. , Durand P.
Published: July 2016

A 10-year-old girl with tapetoretinal degeneration, renal dysplasia similar to juvenile nephronophtisis, gradually increasing mental deterioration, walking incoordination, obesity, and ichthyosis is reported.

Hystochemical analyses of the liver, spleen, intestine, lungs, myocardium, kidney, and brain, showed a glycolipid storage. A triglyceride storage in the liver was identified.

Triglyceride lipase activity was about 1% and acid lipase activity 10% with respect to normal controls.

A genetic factor, rather than a secondary metabolic inhibition of triglyceride lipase, is indicated by the normal activity of this enzyme in fatty liver from patients with Reye's syndrome and alcoholic cirrhosis. No inhibitor was found in triglyceride storage disease.
Prenatal Prediction of Autosomal Dominant Diseases by Linkage Studies: Myotonic Dystrophy
Authors: Omenn Gilbert S. , Schrott Helmut G.
Published: July 2016

Remarkable progress in adapting specific chromosomal and biochemical tests to amniotic fluid samples has allowed intrauterine diagnosis for an increasing number of inherited conditions. However, the lack of any specific tests for autosomal dominant diseases, especially those affecting the nervous system and muscle, has precluded such prenatal evaluation in genetic counseling.

Genetic linkage offers a potentially useful alternative approach to such diseases. The gene for a particular disorder must be closely linked to a genetic marker which can be analyzed in amniotic fluid or cells obtained in the second trimester of pregnancy.

We have recently applied linkage studies to the prediction of myotonic dystrophy (Dm) during pregnancy. Dm is known to be closely linked to the secretor locus (Se), which determines the secretion of ABH blood-group substances into saliva and other body fluids, including the amniotic fluid of the fetus.

Only certain families will be suitable for this analysis: the affected parent must have thesecretor-positive phenotype and be heterozygous (Se/se) at the secretor locus; the coupling of the Dm allele to the Se or se allele must be determined; and the spouse must be either secretor-negative or heterozygous secretor-positive. Secretor genotypes can be inferred from secretor phenotypes of close relatives, including the fetus at risk.

Unfortunately, these criteria will be satisfied in only 5-10 percent of couples at risk to transmit myotonic dystrophy. In suitable couples, however, linkage analysis can be quite helpful.
Weight Increase in Twins in the First Year of Life
Authors: Alfieri A. , Gatti I.
Published: July 2016

A study of weight increase in the first year of life has been carried out on a sample of 50 MZ and 50 DZ twin pairs of both sexes, as compared to a similar sample of singletons. The results show that weight increase, as examined at different stages in the first year of life, undergoes significant hereditary conditioning (H ≃ 0.60).
Physical and Mathematical Considerations About Laser Perimetry
Authors: Favella L. , Liuzzi L. , Bartoli F.
Published: July 2016

The physical and mathematical characteristics of white light, monochromatic light, and laser light, are discussed with reference to the advantages offered by perimetry using a red helium-neon laser.
Perinatal Mortality Rate in Multiple Pregnancies
Authors: Metler S. , Mierzejewski W. , Metler St. , Rudzinski J.
Published: July 2016

The perinatal mortality rate in multiple pregnancies has been examined both in literature data (where it reaches an average value of 17.5%), and on a sample of 619 twin deliveries from the Danzig population.
Cardiac Electrogenesis in Twins
Authors: Jagielski J. , Nolis J.
Published: July 2016

Vectorcardiographs and electrocardiographic examinations were made inMZ and DZ twins, triplets and quadruplets. The similarity of the cardiac electrogenesis in the twins was studied using the correlation calculation after the affinic transformation of the vectorcardiograms and the multipolar description of cardioelectric field. The similarity of electrocardiograms and vectorcardiograms in MZ twins depends on heart electrogenesis.

The differences appearing during the neonatal period result from a nonuniform course of circulation organ adaptation and the establishment of conduction pathways in the newborn heart.
Further Development of Children from Multiple Pregnancy
Authors: Ochabska Z.
Published: July 2016

This study has aimed at assessing the psychomotor development of children from multiple pregnancy after full-term and premature births. A total of 166 children aged 6 months to 12 years were examined, including 70 pairs of twins, 2 sets of triplets, and 20 more children from multiple pregnancies of which only one child had survived.

A body weight below 10 percentiles was in 17%, and stature deficiency in 23% of children. The psychomotor development was arrested in 13%. Most of the children (18 out of 23) with arrested psychomotor development had a low body weight at birth and a complicated course of the neonatal period, as well as serious general illnesses in the infantile period.
Psychomotor Development of Children from Multiple Pregnancies. A Psychological Evaluation
Authors: Bogdanowicz M.
Published: July 2016

Psychological examinations were made in 56 children from quintuplet, quadruplet, and triplet pregnancies. The psychomotor development of these children from multiple pregnancies did not, as a rule, differ much from the one of singletons, although the multiple pregnancy was more inclined to cause lesions of the central nervous system. Out of the 56 children examined, 25 were found to develop properly.

It is necessary to examine the development of each child separately, taking into consideration its health condition in the neonatal period and its specific environment which effect the individual development and may be the cause of disturbances, as well as of mental differences not only in children from the same pregnancy but even in MZ twins.
The Danzig Quintuplets: Perinatal Complications and First Days of Life
Authors: Dziedziuszko A. , Krywko A.
Published: July 2016

The Danzig quintuplets were born in the 33rd week of pregnancy. Both the third and fifth child required treatment during the first 24 hours. During their stay in our clinic (81 days) all showed signs of dyspepsia and early anemia; two were treated for otitis media, and migrating convulsions were observed in one as a result of hyposaliemia. All the infants were discharged as healthy.
The Changing Incidence of Twinning in Scotland in 1939-1968
Authors: MacGillivray Ian
Published: July 2016

The rate of twinning, both MZ and DZ, as determined by the Weinberg formula, remained fairly static in Scotland up to 1958, when it fell (Fig. 1), due to a fall in the DZ twinning rate. These figures are based on the returns from the Registrar General for Scotland.

As age has a marked influence on the incidence of twinning, it was thought that the difference might be due to a reduced number of older women having babies. However, this does not seem to be the whole answer (Fig. 2). The most marked change would be expected in the women over 35, but this did not occur. It was not possible to look at other factors such as parity, social class and height in the figures for Scotland. The details of all births in the City of Aberdeen are known because of the very high hospital delivery rate, and more detailed studies have been made on the twinning rates for Aberdeen.

These figures, again, showed that from 1959 onwards there was a fall in the twinning rate in Aberdeen and this was due to the fall in the number of DZ twins. The fall in incidence occurred both in Primigravidae and in multigravidae (Tab. I), and more in older than in younger Primigravidae (Tab. II), but there was little difference by age in the fall in multigravidae (Tab. III).

Another factor which is related to the incidence of twinning is the height of the mother. This, in turn, reflects the social class, as tall women are more commonly from the upper, and small women from the lower social classes. The rate of twinning in Aberdeen was highest in the tall women before 1954 (Tab. IV). The rates in all women fell from 1954 onwards, but most dramatically in the tall women. The rates from 1959 onwards show very little difference according to height.
Leukocytic Infiltration of the Umbilical Cord in Twins
Authors: Thiery M. , le Sian A. Yo , Derom R. , Boelaert R.
Published: July 2016

Leukocytic infiltration of the umbilical cord, particularly of the umbilical vein, is common both after normal and abnormal delivery (Tab. I).

The significance and the cause(s) of this phenomenon, however, are still highly controversed subjects (Tab. II). According to some authors (Benirschke, i960; Benirschke and Clifford 1959; Blanc 1961; and Kelsall et al, 1967), cord infiltration may be an indication of intrauterine fetal infection. As a consequence, the terms vasculitis, umbilical phlebitis and funiculitis have been introduced. Other authors (Barter, 1962, and Dominguez et al, 1960), mostly impressed by the discrepancy between the incidence of clinically evident neonatal infection and funiculitis, as well as by the significant association of cord infiltration with prolonged labor and clinical signs of fetal distress, have come to the conclusion that leukocytic infiltration of the umbilical cord must predominantly be the effect of fetal hypoxia. Dominguez et al (i960) go even further and postulate “that the examination of the umbilical cord for leukocytic infiltration affords a means for a long term study of children to determine the effect of intrauterine hypoxia on their ultimate growth and development”.

One way to check the validity of the latter hypothesis, is to investigate the umbilical cords of twins. Since our group has proven that, compared to the first-born twin, the second-born infant is as a rule significantly more hypoxic at birth (Derom and Thiery, 1969), one may expect that intragroup comparison of the incidence of leukocytic infiltration of twin cords should at least permit to disprove the validity of Dominguez assumptions.
Twin Models
Authors: Gedda L. , Brenci G. , Lun M. T.
Published: July 2016

The theoretical relationship between the distribution of a given trait in a population of twin pairs and several genetic parameters has been examined. In particular, a series of mathematical models has been worked out, that, when applied to a twin population, nonselected for the occurrence of a given trait and nondiagnosed as to zygosity, leads to an estimate of:

1) The MZ: DZ ratio in the population;

2) The frequency of the genotype responsible for a given trait;

3) The probability of manifestation of the trait;

4) The value of epistatic factors.

A further mathematical model affords the estimate of linkage in the hypothesis of simultaneous recording of more than one trait.
Distances Généralisées des Dermatoglyphes de Jumeaux
Authors: Vrydagh-Laoureux Stana
Published: July 2016

Soixante-douze paires de jumeaux de même sexe, âgés de 6 à 22 ans, ont été examinées à Bruxelles par l'équipe du Prof. Twiesselmann. Ils ont été séparés en deux groupes, 35 paires de concordants et 37 paires de discordants pour au moins un des neuf sérums des groupes ABO, MN et Rh. Aucun élément subjectif n'est donc intervenu dans cette ségrégation basée sur des facteurs dont le mode de transmission est connu. Nous n'avons fait aucun essai de diagnostic de zygotie basé sur la plus ou moins grande similitude de caractères morphologiques, de façon à rester dans un domaine absolument objectif. Le groupe des discordants est évidemment composé uniquement de jumeaux DZ. Celui des concordants comprend tous les MZ plus vraisemblablement quelques paires de DZ.

Pour l'étude des dermatoglyphes, nous avons retenu trois caractères: le nombre total de triradius digitaux (pattern intensity index), l'indice des lignes principales (main line index) et le nombre de crêtes entre les triradius interdigitaux a et b (a-b ridge-count).

Nous avons d'abord étudié les corrélations entre jumeaux d'une même paire (Fig. 1). Dans le groupe des discordants sérologiques, les intervalles de confiance des coefficients de corrélation englobent la valeur théorique de 0.5. Chez les concordants, ils approchent de l'unité et les coefficients de corrélation vont de 0.83 à 0.85. Aucun de ces intervalles de confiance ne se chevauche, malgré leur étalement dû au petit nombre de sujets.
Il Disadattamento Sociale Rilievi su gemelli MZ e DZ
Authors: Gaffuri G.
Published: July 2016

Il problema del disadattamento sociale, nelle sue diverse forme e gravità, è stato considerato attraverso l'osservazione di 60 coppie di gemelli: 30 MZ e 30 DZ, ♂♂ e ♀♀, dai 15 ai 55 anni, vissuti rispettivamente in ambienti identici o differenti per tutta la vita o solo nell'età infantile-giovanile, oppure nell'età adulta. Sono state escluse, dall'osservazione le coppie di soggetti affetti da sofferenze organiche, neurologiche e psichiche, tali da giustificare anomalie del comportamento e quindi disadattamento sociale. I casi, trovati nel corso di 25 anni, sono stati studiati attraverso inchieste socio-familiari ed esami obiettivi clinici e di laboratorio, generici e specialistici, particolarmente quelli propri della clinica neuro-psichiatrica.

Le inchieste sono state condotte per tutte le età ed ogni ambiente, per raccogliere informazioni attendibili ed obiettive che investissero l'intera vita dei soggetti, contribuendo alla comprensione psicodinamica delle anomalie comportamentali ed in particolare del disadattamento sociale. Gli esami obiettivi e collaterali psichiatrici (colloqui psicodiagnostici e test psicoproiettivi), più volte ripetuti a distanza anche di anni, hanno permesso di precisare i singoli quadri clinici ed hanno fornito gli elementi per la loro interpretazione.

In tutti i gemelli MZ vissuti in ambienti identici (10 coppie), sono riscontrabili rilevanti concordanze. In quelli vissuti in ambienti sostanzialmente differenti (4 coppie), non è stato rilevato alcun caso di perfetta concordanza: concordanze parziali in 2 coppie e marcate discordanze nelle altre 2.
Congenital Malformations in MZ Twins
Authors: Derom R. , Cameron A. H. , Edwards J. H. , Thiery M. , Boelaert R.
Published: July 2016

Congenital malformations have been investigated in a consecutive series of 445 MZ twin pairs coming from two twin surveys numbering 1424 pairs.

Concordant malformations were found in 6 pairs; discordant malformations, in 20 pairs. The significance of these findings is briefly discussed.

The methodology of the prospective twin studies is described. The diagnosis of zygosity is based on sex, structure of placental membranes, and enzyme systems of the blood and placenta.
Le Malformazioni nell'Uomo — Studio gemellare
Authors: Del Porto G. , Del Porto-Mercuri A.
Published: July 2016

Molto spesso la genetica si è interessata delle malformazioni allo scopo di evidenziare il « quantum » di eredità che interviene nel determinismo morboso, specialmente quando la patologia denunciata è causa di grave alterazione del fenotipo.

Lo studio attuale vuole invece valutare l'importanza dell'eredità in un settore meno impegnativo della patologia malformativa, ma a nostro avviso assai diffuso, e cioè il peso dell'eredità sul determinismo di: (1) palato ogivale; (2) valgismo delle ginocchia; (3) malformazioni genitali; (4) piedi piatti; (5) malformazioni della colonna vertebrale; (6) malformazioni dentarie; (7) malformazioni delle dita; (8) malformazioni craniche.

Ben note sono le difficoltà che si incontrano in campo umano per l'impossibilità di procedere ad una sperimentazione diretta, ed è quindi il metodo gemellare ad apportare un contributo essenziale nella valutazione dell'eredità e dell'interazione di fattori paragenetici ed ambientali sull'evento patologico, mediante lo studio delle coppie gemellari MZ e DZ.

Nel nostro caso abbiamo raccoito 240 coppie gemellari delle quali 120 MZ e 120 DZ, che sono state distribuite in otto classi corrispondenti alle otto patologie descritte a seconda della rispettiva presenza in entrambi o in un solo gemello.
Twinning and Blood Groups — I. ABO frequencies in twins and controls: immunological considerations
Authors: Bolognesi M. , Milani-Comparetti M.
Published: July 2016

Several studies have appeared in the literature to support the hypothesis of a differential incidence of twin births according to the antigenic structure of maternal erythrocytes (Gedda, 1961).

Osborne and DeGeorge (1957) wrote that twin births exhibit a higher incidence when mothers belong to group O, as compared to other groups within the ABO system; a similarly increased incidence of twin births was indicated for rh-negative mothers within the Rh-Hr system.

The availability of a large number of immunohematological data concerning twin pairs and nontwin individuals examined in our Institute have encouraged us to verify whether this material could reveal some a posteriori effect of the selective tendencies that have been related to the parental level.

Limiting our study in this phase to the ABO system, we have collected data on 1190 twin individuals and 1454 nontwin individuals, for all of whom the ABO blood group had been recorded.

The first step in our analysis was the perequation of the nontwin distribution to the twin distribution, obtaining the figures reported in the column “controls” in Tab. I.
Allergy and Disease in Twins — An anamnestic study
Authors: Milani-Comparetti M.
Published: July 2016

The immunological nature of allergic diseases is a recognized fact, but their pathogenesis is still largely unknown, representing one of the less understood areas of immune pathology.

Twin studies in allergic diseases have been carried out before (Gedda and Teodori, 1962), contributing to prove the great importance of heredity in the occurrence of allergic disease.

Yet, the nature and mode of inheritance of allergic hereditary factors is still unknown, thus representing further question marks in the mystery of allergic pathogenesis.

The present study has been extended to include allergic diseases within the wider scope of total pathological experience, through a comparison between a sample of twin pairs with a history of allergic disease and a control sample of nonallergic twins.

All our data have been derived from the records of the Twin Register of the Mendel Institute. These records have been coded and transferred onto IBM punched cards with the support of the Italian National Research Council (Gedda and Milani-Comparetti, 1966). A population of 500 twin pairs was selected for having been included in the Twin Register before 1955, so as to have a minimum age of 15 years. The case histories of all these pairs had been coded and punched independently, according to a coding system developed in our Institute, which listed the following items: (1) oculorhinitis; (2) asthma; (3) urticaria; (4) allergic eczema; (5) unspecified allergic disease.

As many as 76 of our 500 pairs were found to have a positive history for at least one of these classes of disease, representing an incidence of 15.02% in our material.
Coronary Occlusion in Twins
Authors: Harvald B. , Hauge M.
Published: July 2016

It seems to be generally accepted that genetic factors take a place among the causes of coronary heart disease. Careful and extensive family studies, among others by workers in Carter's group, have shown that the risk to close relatives of patients with coronary heart disease is significantly increased. This may, however, be an effect of the common social background in families. Systematic twin investigations have been needed, which could distinguish between the effects of common environment and common genes, and allow an estimate of the relative importance of genetic and environmental factors.

The present study is an approach to this problem by using twins with coronary heart disease in the Danish Twin Register (Hauge et al, 1968). This was founded in 1954 and has been developed ever since. It now contains total medical information on about 10 000 unselected pairs of twins born in Denmark in the period 1870-1910, where both partners have survived the age of five. On January 1, 1968, coronary occlusion had been registered in a total of 352 twins.
Twin Studies in Congenital Heart Diseases
Authors: Jörgensen G.
Published: July 2016

Uchida and Rowe (1957), Lamy et al (1957), as well as Campbell (1961), were of the opinion that genetic factors do not play an important role in the genesis of congenital heart deformities. These authors could not find any concordantly affected pair among a total of 32 MZ twin pairs. Impressive family case reports and systematic investigations (Fuhrmann, 1970; Jörgensen, 1970) do not support this assumption. The results of twin investigations by Nora et al (1967) also contradict previous results. Among a total of 37 twin pairs these authors found 6/13 MZ and 1/24 DZ concordantly affected pairs.

Our own investigations began in autumn, 1966 and were recently completed. With the help of the registrar of birth offices and the cardiological team of the University of Göttingen (Prof. Dr. A. J. Beuren, Prof. Dr. H.-E. Hoffmeister, Prof. Dr. J. Koncz, Prof. Dr. J. Stoermer), we were able to find 50 index patients, each being a member of a twin pair, among 2427 propositi with different congenital heart defects.

Our own results are shown in Tab. I: 4/21 MZ (19.0 ± 8.6%) and 1/24 DZ (4.2 ± 4.1%) are concordantly affected. In five cases, the zygosity of the twins, as well as the diagnosis of respective cotwins, (stillborn or perinatal-dead) is unknown.
Applicazione del Metodo Gemellare nello Studio dell'Enuresi Primitiva
Authors: Gedda L. , Alfieri A. , Brenci G. , Reggiani L. , Lun M.T.
Published: July 2016

L'enuresi primitiva (essenziale notturna) può essere definita come una minzione involontaria che avviene di notte durante il sonno, mentre nel corso della giornata la minzione è normalmente controllata, ed ha perciò caratteri peculiari.

Il notare, a volte, nei bambini affetti da enuresi primitiva la concomitanza di piccoli disturbi psichici o emozionali, di piccolo male, di stati di ipervagotonia o spasmofilia, conferma la natura funzionale complessa dell'affezione, sulla quale influiscono in prevalenza turbe della vita psichica o degli interessi affettivi del bambino. Alcuni dei fattori psichici implicati nell'enuresi (mancinismo, infantilismo nei giochi o discorsi, terrori notturni, fobie) possono anche essere considerati come indice di una incompleta maturazione psichica.

Non vogliamo qui discutere sull'etiopatogenesi della malattia, che è tuttora piuttosto oscura. La maggioranza degli autori considera l'enuresi primitiva come un disturbo funzionale complesso, non legato ad alterazioni dell'innervazione o della maturazione delle strutture nervose e muscolari preposte alla funzione vescicale, ma piuttosto riportabile ad alterazioni (o ritardo) del meccanismo volontario della minzione.

Si parla di enuresi primitiva quando il controllo anche notturno della minzione non è stato raggiunto entro i primi tre anni di vita. Secondo Harrison (1967), a 5 anni l'enuresi è presente nel 15% dei maschi e nel 10% delle femmine, a 9 anni nel 5%. Il disturbo cessa spontaneamente alla pubertà in quasi tutti i casi.
Concordant Glaucoma in MZ Twins
Authors: Gedda L. , Scullica L. , Accardi A.
Published: July 2016

The Authors report a 54-year-old male MZ twin pair with two single-born relatives suffering from glaucoma.

The twins are concordant as to glaucoma, but onset of the disease in the first-born occurred 20 years later than in the second-born. This high chronological difference is ascribed to the hardships the latter twin had suffered for three years in Africa.

The meaning of anticipation is discussed in the light of modern views on the time dimensions of the unit of inheritance (chronon).
An Experimental Study of Mutual Behaviour Imitation and Person Perception in MZ and DZ Twins — Implications for an experimental-psychometric analysis of heritability coefficients
Authors: Wilde G.J.S.
Published: July 2016

In an earlier study (Wilde, 1964) on 88 MZ and 42 DZ twin pairs in Holland, DZ pairs, who had been separated for a minimum of five years, were compared with DZ twins living together on measures of neuroticism, extraversion, test-taking attitude and masculinity/femininity. The striking observation was made that separated DZ twins were systematically more similar than DZ twins living together across all personality traits concerned. No such difference was found between MZ pairs living together and MZ pairs living separately. In order to account for these findings, the hypothesis was put forward that the persons in the direct environment of a twin pair have certain behavioural expectancies with regard to the twin members, which depend upon the observation whether the twins are MZ or DZ. As soon as the twin pairs leave the parental home these behavioural expectancies come to a halt and the “true personalities” of the twins will emerge. This might explain why DZ pairs were found to be more similar after separation, and this reasoning also shows that it is inadequate to say that “the environment is the same” or “the environment is different”, without specifying which environmental variable is the same and which one is not. In some respects the environments of separated DZ pairs may have been more similar than the environments of DZ pairs living together.
A Comparison of Heritability Estimates of US Negro and White High School Students
Authors: Vandenberg S. G.
Published: July 2016

As you all know, there is a growing concern with the Negro problem in America. I will look at one small aspect of that problem today: the possible hereditary difference in ability between Negro and White.

Fig. 1 is just one of many examples that could be chosen. It shows the extent of such differences in ability for different years, for male and female separately, between Negro and White students admitted to the University of Georgia, as reported by Hills (cf. Stanley and Porter, 1967). Ability was measured by the verbal score on the Scholastic Aptitude Test — a test widely used by college admission officers in the USA for selection of students.

Fig. 2 shows a comparison of the fertility of Negroes and Whites, indicating that less able Negroes have the highest fertility, while more able ones have lower fertility (Bogue, 1969).

Should the combined effect of these two factors (i.e., lower IQ,'s and greater fertility of low IQ, Negroes) lead us to worry about a gradual decline of the national level of intelligence in the USA? I believe not, and I will present some evidence which supports the thesis that the observed lower intelligence in US Negroes is due to an interaction between innate potential and unfavorable environmental conditions. If, as I believe, social conditions for the Negro are improving and if their greater fertility will level off as social conditions improve, we will not need to be concerned about a national decline in ability.
A Comparison of Twin and Sibling Studies for a Developmental Theory of Schizophrenia
Authors: Pollack Max , Woerner Margaret G. , Klein Donald F.
Published: July 2016

Studies have clearly established that the concordance rate for schizophrenia is much higher in MZ than DZ twins. Beyond this, it is difficult to generalize the findings to singletons. Analyzing the reports of MZ twins discordant for schizophrenia, Stabenau and Pollin (1967) view the differences between the index case and his nonschizophrenic cotwin, as stemming from an early biological defect or immaturity, which, in interaction with parental handling and other environmental response, may lead to socio-psychological incompetency and, in turn, to gross schizophrenic symptomatology.

In a previous study (Pollack et al, 1966), comparing schizophrenic patients and their nonschizophrenic sibs, we found that patients showed significant psychological (social and personality) deviations from the preschool age through adolescence. We did not obtain significant differences on the biological and very early developmental variables that clearly distinguished the discordant twins. These include birth weight, paranatal complications or motor development, such as age of walking. In contrast, Lane and Albee (1966) found schizophrenic index cases to be lighter at birth than their sibs, confirming the finding for twins. The clinical significance of this difference is debatable, since the index cases did not differ from national norms.
Family Studies of MZ Twins Discordant for Schizophrenia: Neurological Findings
Authors: Mosher L. R. , Pollin W. , Stabenau J. R.
Published: July 2016

Over the past six years the Section on Twin and Sibling Studies, NIMH, has conducted intensive studies of 16 families with MZ twins discordant for schizophrenia. In addition, 3 families in which both twins were schizophrenic and 4 with no known psychiatric illness have been similarly investigated.

Each family is admitted to the Clinical Center, NIH, for two weeks of multi-disciplinary investigation. In the hope of shedding light on the question of neurologic findings in schizophrenic patients and their role in this disorder, detailed neurological examinations are performed on the twins by two neurologists. Patients with gross neurologic disturbance are screened out by our selection criteria. The examiners are therefore explicitly seeking minor deviations in neurologic status, rather than patterns of symptoms and signs leading to a specific neurologic diagnosis. Given this context, the neurologists recorded substantial numbers of signs. Yet, in none of the twins was there sufficient evidence to warrant a neurologic diagnosis.

The pairs of neurologic reports were subjected to a variety of procedures, in an attempt to quantify the results. For example, 11 of the first 13 index schizophrenic twins, as compared with 1 of 13 cotwin controls, were rated as having “probable” or “definite” neurologic abnormality, based upon the senior author's analysis of the number and type of signs recorded and the degree of agreement between the examiners. Significant group differences on number of signs reported were found between schizophrenics and nonschizophrenics, schizophrenic indexes and their cotwin controls, and schizophrenics and normals. In contrast, there were no significant group differences in the number of signs found between the nonschizophrenic cotwin controls and the normal twins.
A Twin Study of Suicide
Authors: Juel-Nielsen N. , Videbech Th.
Published: July 2016

Suicide is a complex problem and a phenomenon of mankind which is obviously influenced by a multitude of ethnological, socio-cultural, psychological and various other factors.

That a man takes his own life does not necessarily mean that he was mentally abnormal. On the other hand, it is a well established fact that the frequency of mental illness — affective disorders in particular — is high among suicides, and that one in six patients suffering from manic-depressive psychosis will commit suicide (Sainsbury, 1968). A family history of suicide is not quite uncommon, and beforehand one cannot exclude the possibility that somehow genetic factors may play a part in suicide; but evidence in favour of such an assumption seems to be scanty.

A survey of the literature reveals that there have been very few twin studies of suicide, and so far concordance in MZ twins seems to have been reported in three cases only.

The first case was observed, already in 1812, by a Dr. Stephens Williams from Massachusetts. He described twin brothers, presumably MZ, who both were captains and had distinguished themselves in the War of Independence. One of the twins settled down in the beautiful state of Vermont, whereas the other remained in Springfield. For several years, they continued to live apart, until, within short interval, they both committed suicide by cutting their throat. Williams points out that the mother and two siblings of the twins had presented symptoms of mental illness, and that, prior to their death, both had been in a state of melancholy, probably an endogenous depression.
Computer Selection of Twin Pairs
Authors: Schiöttz-Christensen E.
Published: July 2016

A new method of cross-sectional twin sampling from a population may be used in countries where authorities utilize electronic data processing of National Register data.

In Denmark, all National Register data are collected on magnetic tape. In January 1969 it was consequently possible, by the help of a 360-COBOL programme, to select all individuals in the Copenhagen area with identical birthday, month and year, and identical address. The selection was limited to the years 1943 to 1968.

Data from every person were tested against data from all other persons, to prove whether the person had one or more partners with identical data, i. e., twin, triplet, or quadruplet partners. Names and current addresses of the twins were written on self-adhesive labels intended for later correspondence. Had it been desirable, the computer might have produced, in the same operation, index cards and questionnaires ready for mailing. In the primary sample, a few “false” twin pairs from great collective housekeepings (as, for example, colleges) were included. These “false” pairs were excluded after comparing the partners surnames.

From the total population of 1 712 000 people, 4595 twin, 25 triplet, and 1 quadruplet sets were found. As many as 3754 twin pairs were born in 1951-1967. Of these, 34.68% were of opposite sex. Of the remaining pairs, 642 were born in 1943-1950, 28.19% being of opposite sex.