bluuebunny/crossref_metadata_2025 huggingface dataset:
Über die Verteilung der Rhesusfaktoren in der deutschen Bevölkerung und ihren Wert für das Vaterschaftsausschlussverfahren
Authors: Nagel V. , Hoffmann M. , Prokop O.
Published: July 2016

I. The results are reported of Rh—Antigens examinations on 61 families with together 154 children and on 423 mother—child relations. No deviations from the theory of inheritance concerning the Rh-Caracteristics could be noticed.

II. The results obtained by examination of 2472 persons concerning the distribution of the Rh-types C, c, D and E in the German population makes it possible to obtain safe conclusions concerning the Rh-type representative for us and its use to the forensic paternity exclusion by calculating the application of the type (acc. to Hirszfeld). There is a far-reaching correspondence between our observations and Anglo-American (Wiener and Race), and Norvegian reports (Hartmann and his staff), about the distribution of the types.

III. A survey of paternity exclusions as observed from our material substantiates the theoretic conclusions and shows also in practice the importance of the RH-Antigens of certain characters (C, c, D and E) for the forensic medicine.
The Secular Decline in Dizygotic Twinning Rates in Italy
Authors: James William H.
Published: July 2016

It is shown that the recent secular decline in DZ twinning rates in Italy was not solely due to secular changes in birth order or maternal age.

The extent of the decline differed in different maternal age-parity categories. It seemed to be greater in younger women than older ones for constant parity. The data gave no clear support to the suggestion that the decline is associated with social class.

It seems that this secular decline in Italy has not been greatly affected by the use of ovulation-inducing drugs.
Dermatoglyphics in Noonan's Syndrome
Authors: Rott H.-D. , Schwanitz G. , Reither M.
Published: July 2016

A dermatoglyphic analysis has been carried out in 7 boys and 5 girls affected by Noonan's syndrome. No deviation from the general population values was found with respect to individual quantitative value, A line termination, absence of C line, a-b ridge count, hypothenar patterns, and presence of p proximal triradius on soles.

Whorls were however increased on fingertips and the axial triradius t, as in Turner's syndrome, was in 21% of the cases in position t′ or t″.
Unexpected Findings with the New Chromosome Banding Techniques in a Patient Formerly Diagnosed as Having G-Deletion Syndrome II
Authors: Orye E. , Craen M.
Published: July 2016

A girl is described, who, upon her first admission to our pediatric department in 1965, was supposed to have G-deletion syndrome II on the base of the chromosome findings in routine orcein-stained preparations and her clinical aspect. When, however, in 1972 a Q- and G-banding analysis was performed, the patient seemed to be a t(14q+; 22q—) translocation carrier.

These findings are discussed in relation to the known heterogeneity of the clinical picture of patients previously reported as having a G-deletion syndrome and in whom no banding studies were done.

Finally, the need for more extensive studies with the different techniques is stressed, particularly, in cases of Gq— chromosomes, of which the familial occurrence is suggestive of a hidden reciprocal translocation.
On Some Theoretical Studies on Gene Differentiation in Natural Populations
Authors: Chakraborty Ranajit
Published: July 2016

Different mathematical approaches to study the extent of genetic variation of natural populations are reviewed. The modern understanding of the gene structure permits new interpretations of existing concepts like fixation or inbreeding. A more recent measure of genie divergence, which at molecular level is designed to measure net codon differences is also seen to be related with gene diversity in a substructed population. It is argued that such variations are produced and preserved possibly by simultaneous action of migration, mutation, selection, and random genetic drift. At the present moment it is very difficult to isolate out the effect of each factor because of varying degrees of variation at the different gene sites and between different sets of populations.
Genetics of the Rh-Hr Locus in Humans
Authors: Zaidi Syed Shane Raza , Bebon Sue , Taqvi Syed Hasan Hadi
Published: July 2016

An analysis is attempted to throw more light on the inheritance of rhesus factor in humans and the Fisher-Race and Wiener's concepts are respectively evaluated.

It is claimed that the Rh-Hr locus is not comprised of the recombination of C, D, E, c and e genes, much less the help of the auxiliary (d) which merely appears to be a conventional approach derived from an even principle of recombination for a polyhybrid cross.

As for Wiener's rare or common mutants of Rh-Hr in humans and the emergence of different agglutinogens like a sort of genetic proliferation, no such parallel of inheritance has yet been found in experimental plants or animals.

Probably the scarcity of certain genotypes is due to the rare chance of fertilization or embryonic development due to incompatibility between certain mutants of Rh-Hr genes, similar to ABO-Rh incompatibility.
Frequency of Left-Handedness Among the Andhra Pradesh People
Authors: Dronamraju K. R.
Published: July 2016

The percentages of left-handed people among the males and females of Andhra Pradesh tribals in India were found to be 15.49 and 7.79, and in Hindus 6.9 and 4.65. The difference between the sexes among tribals is significant. The tribal people studied were Koya Doras, Sugalis {or Lambadis), and Konda Reddis. It is suggested that similar quantitative studies of left-handedness should be made in other tribal and aboriginal populations before they are culturally conditioned to right-handedness.
Tapetoretinal Degenerations in Spinocerebellar Degenerations (Heredoataxias)
Authors: François J.
Published: July 2016

The association of hereditary spino-ponto-cerebellar degenerations with tapetoretinal degenerations of varying types, and particularly with Stargardt's macular degeneration, is not rare, as at the present time more than 200 cases are known. Therefore the one-gene hypothesis seems to be the most plausible. The fact that there exist complex neuroophthalmological forms near purely neurological or purely retinal forms, is also in favour of one gene with polyphenic manifestation.
Tapetoretinal Degenerations and Disorders of Lipid Metabolism. Part II: Biochemical Aspects
Authors: Berman E.R.
Published: July 2016

Inherited tapetoretinal degenerations associated with, or caused by, abnormalities in lipid metabolism are discussed in terms of recent findings regarding their etiology. The biochemical basis of these tapetoretinal degenerations may be summarized as follows.

(a)In abetalipoproteinemia (the Bassen-Kornzweig syndrome) there is a complete absence of all plasma lipoproteins except HDL (alfalipoprotein; high density lipoprotein). In addition the levels of plasma lipids, including vitamin A, are grossly dimished. The genetically-caused basic defect in this disorder is the absence of a specific protein component, apoLP-ser, in the plasma lipoproteins.

(b)In a milder form of hypobetalipoproteinemia, transmitted as an autosomal dominant trait, there is little, if any, retinal degeneration.

(c)Refsum's syndrome is characterized by greatly increased plasma levels of phytanic acid, a 20-carbon branched-chain fatty acid. This substance is not synthesized in the body, but originates from dietary sources only. Patients with Refsum's syndrome lack the enzyme (phytanic acid oxidase) necessary to oxidize this fatty acid, and its accumulation in the tissues has severe consequences. Therapeutic measures, consisting of restriction of dietary phytanic acid, have given encouraging results.

(d)Three forms of Batten's disease (neuronal ceroid lipofuscinosis) are now recognized. These are(1)the rapidly progressive (Jansky-Bielschowsky) form,(2)the chronic (Batten-Mayou-Vogt-Spielmeyer-Sjögren) form, which is the most common, and(3)the late onset (Kufs') form. All are associated — to varying degrees — with an accumulation of autofluorescent ceroidlipofuscin pigments. The enzymatic defect is believed to consist of abnormalities in peroxidase enzymes.

(e)Other tapetoretinal degenerations thought to be associated with defects in lipid metabolism are discussed briefly. These include Hooffs disease, Cockayne's syndrome, and Alstrom's syndrome.
Neurotransmitters and Neuromodulators
Authors: Steiner Felix A.
Published: July 2016

In the central nervous system, besides the neurotransmitters, the occurrence of substances which modify neuronal excitability has been proposed. Since their effect is a matter of modulating neuronal responsiveness, these substances may be called neuromodulators.

Examples of neurotransmitters or putative neurotransmitters in the central nervous system are acetylcholine, noradrenaline, dopamine, and aminoacids such as GABA, glycine, and L-glutamic acid. Under certain conditions, some of these (acetylcholine, L-glutamic acid, and GABA), as well as hormones and polypeptides (e.g., releasing factors) are considered to act as neuromodulators.
Some Biomedical Indicators in Chronogenetics
Authors: Comparetti M. Milani , Pace D.P. , Britti F. , Casini D.
Published: July 2016

All living beings are variously conditioned by both continuous and repetitive chronological phenomena.

The greater biochemical complexity afforded by the genome of higher organisms contributes to increase their independence from environmental chronological phenomena (= increased homeostasis). Genetic variability (originated by mutations and required for evolutionary adaptation) extends its influence on the biochemical mechanisms of homeostasis.

Phenotypical variability, if prevailing environmental conditions are constant, is based on genotypical variability. Thus the variability observed in the duration of homeostatic mechanisms must be genotypical.

In current chronogenetical theory, Gedda and Brenci's concept of the Ergon) Chronon System provides the explanation for the observed variability in the duration of homeostatic phenomena; in this concept, the differential stability of genie information explains the variation of patterns of senescence in different individuals. From the viewpoint of the continuity of life, senescence must be considered as “physiological”, but its individual, especially initial degenerative manifestations are generally considered as pathological. The fundamental applications of chronogenetics to the human species are to be aimed in this direction.

Individual phenomena of senescence may be more or less linear; the pattern of the respective curves may be common to the entire species, or else it may afford varying degrees of variability. The ascertainment of the respective curves (for which some indicators may serve as examples) is a prerequisite for the application of chronogenetics to the individual, framing him within his genealogy and providing great potential developments for preventive medicine.
Ophthalmological Findings in Infantile Type of Neuronal Ceroid-Lipofuscinosis
Authors: Raitta Christina , Santavuori Pirkko
Published: July 2016

A new entity which belongs to the neuronal ceroid-lipofuscinoses has been delineated. The essential ophthalmologic features were absence of the ERG and progressive tapetoretinal degeneration leading to blindness at the age of 2 years. Electroretinography and fluoresceinangiography are of major importance for the diagnosis. The primary site of the retinal lesion seems to be the receptors and the pigment epithelium.
A Genetic Study of Chronic Spinal Muscular Atrophy
Authors: Bundey Sarah , Lovelace R.E.
Published: July 2016

The identity of an autosomal recessive form of chronic spinal muscular atrophy with clinical features intermediate between acute Werdnig-Hojfmann disease and Kugelberg-Welander disease is confirmed. This form accounts for the majority of patients with spinal muscular atrophy surviving into adult life. Spinal muscular atrophy with onset after 2 years of age is a heterogeneous group and both autosomal recessive and autosomal dominant forms occur.
Experiences of Eugenic Counseling in Neurology at the Mendel Institute
Authors: Porto G. Del , Tombolini M. L.
Published: July 2016

The cases of neurologic interest of the Mendel Institute's Eugenic Counseling Service and the various counseling possibilities, at a prezygotic, zygotic, and clinical level, are reviewed.

The importance of the data collected and their possibilities of application to the general population are stressed.
A Case of Trisomy 8
Authors: Dallapiccola B. , Gallenga P. E. , Pinca A. , Capra L.
Published: July 2016

A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.

The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.
Gene Decay. III. Mathematical Model of Back Mutations
Authors: Rossi C.
Published: July 2016

Following previous application of mathematical models to the study of gene decay, as suggested by Gedda-Brenci's model of the ergon-chronon system, further results are reported, with special respect to a mathematical model of back mutations.
Cerebral Excitation Mechanism and Endoocular Pressure in Consanguineous Subjects
Authors: Cinquemani N.
Published: July 2016

In a previous work on oral contraceptives and tranquillizers the author had postulated an expansion of the cerebrospinal fluid at the time of the vasopressin inhibition.

In the present work he has now examined, by means of echoencephalography, the reaction of the third ventricle and intraocular pressure after alcohol ingestion. Ten consanguineous subjects were studied.

The results show an increase in diameter of the third ventricle and a decrease of the intraocular pressure as a result of alcohol ingestion. Both these signs indicate a decrease of the cerebrospinal fluid pressure. This decrease, in its turn, shows the rise of the nervous excitability. The author suggests that the third ventricle may act as a resounding cavity capable to modulate the mesencephalic reticular-formation activity and the diffuse thalamic system by means of the electric gradient potential and its pulsation.
Asymptomatic Type II Hyperprolinemia Associated with Hyperglycinemia in Three Siblings
Authors: Mollica F. , Pavone L. , Levy Harvey L.
Published: July 2016

Type II hyperprolinemia is a rare metabolic disorder associated with mental retardation, seizures, and EEG anomalies.

The authors describe a Sicilian family, detected screening for aminoacidopathies by the method of Scriver, in which three siblings have high levels of serum proline and urinary pyrroline-5-carboxylic acid, without any signs of associated anomalies.
Monoamine Oxidase Activity: A Genetic Marker of Schizophrenia?
Authors: Owen F. , Ridges A. Pauline , Cookson I. B.
Published: July 2016

The results of pilot studies of the activities of platelet monoamine oxidase (MAO) and catechol-0-methyl transferase (COMT) in the blood of selected schizophrenics and the families of schizophrenics is presented.

No statistically significant difference was found between the blood COMT levels of 21 control subjects and 26 schizophrenics, whereas the values found for platelet MAO activity were significantly lower for the schizophrenic group than for the control group.

In one acutely disturbed first-admission schizophrenic the platelet MAO activity increased to a normal level in parallel with the clinical improvement, whereas in the relapsing schizophrenics the platelet MAO activity remained at its initial level although the clinical picture improved. No consistent findings with regard to the platelet MAO activity emerged from the study of 3 families having a history of schizophrenia.
Multiple Pregnancy as a High-Risk Pregnancy. Medical statistical data from the German Democratic Republic
Authors: Leetz I.
Published: July 2016

In 1969 children of a multiple birth in the GDR made up 1.9% of livebirths and 15.3% of early neonatal deaths. The early neonatal mortality rate of children from a multiple birth was 95.7‰, that of all live-births 12.4‰. The cause was the low birth weight of children from a multiple birth (56.2% vs. 5.8% of all livebirths). Their low birth weight is the result of a hypotrophic development caused by malnutrition. The loss of children from a multiple birth (stillbirths, early neonatal and postneonatal deaths) was 143‰. International experience has shown that such heavy losses can be largely prevented by bed rest of the woman with a multiple pregnancy. We therefore strongly recommend early diagnosis and early in-patient care of women with multiple pregnancy.
Developmental Defects and Mortality Rate of Fetuses and Newborns from Multiple Pregnancies
Authors: Emerich J. , Rogoza Z. , Sylwestrowicz W.
Published: July 2016

The analysis of 682 newborns indicated that developmental defects accounted for 0.44% of the overall perinatal mortality of twins. The 3.7% higher mortality rate for second twins is frequently due to abnormal presentation and longer time-interval following the birth of the first twin.
Multiple-Pregnancy Complications
Authors: Skalba H. , Osuch-Jaczewska R. , Lempart O. , Ochabska Z.
Published: July 2016

The material covers 332 twin pregnancies (including 5 of triplets) of which 208 (62.7%) were premature deliveries and 124 (37.3%) deliveries at term.

Of the twin pregnancies included in the group examined 15.7% developed complications (gestosis and eclampsia, kidney and heart diseases, anemia, hydramnios). Spontaneous deliveries were 66.7%, operative deliveries 33.3%. A high mortality of the second twin (13.1%) is noticeable and it increases to 21.4% when operative procedures are applied to the first twin.
Management of Some Aspects of Twin Labor and Delivery
Authors: Leroy F.
Published: July 2016

Our data show that oxytocic perfusion should be liberally given during twin pregnancy labor, since its use is correlated with lower fetal mortality, especially of the second premature twin. This therapy might act, namely, by reducing the number of second-twin abnormal presentations. In our series, the higher mortality rate associated with lengthening of time interval between both births could be attributed to second-twin abnormal presentations. However, mortality rate versus time interval in spontaneous twin deliveries warrants obstetrical management providing second-twin birth within 15 minutes.
Obstetrical Problems Of Conjoined Twins
Authors: Ruskiewicz D.
Published: July 2016

The analysis concerns 16 cases of births of conjoined twins reported in the Polish literature. Cesarean section was applied in 2 cases, while 13 cases were spontaneously delivered without destructive operations. Embryotomy was necessary in 1 case. Liveborn fetuses were 7, while 9 were stillborn; 6 were male and 10 female. The heaviest body weight amounted to 5810 g, and the lowest to 1200 g. When the diagnosis of live conjoined twins is possible before the second stage of labor, Cesarean section should be performed. Treatment during vaginal delivery depends on the ensuing conditions.
The Course of Puerperium after Twin Labor
Authors: Lysikiewicz A. , Sternadel Z.
Published: July 2016

Seventy-six cases of puerperium following twin pregnancy were studied. The most frequent complication occurring during puerperium was represented by febrile states, the etiology of which was difficult to explain and which required administration of antibiotics. They were observed on 28% of cases. The most important causes of frequent infections in puerperium seem to be a high frequency of obstetric procedures during twin delivery and much slower involution of the uterus after labor. This was reported for fetuses delivered at term as well as for premature labors.

Complication in the form of puerperal anemia requiring blood transfusions were observed in 10% of cases. Puerperal eclampsia, bleedings, thrombophlebitis, mastitis, accounted jointly for 7% of puerperal complications. The total percentage of puerperal complications following twin delivery was 45%. This fact indicates the need for careful observation of women in puerperium, broad prophylactic measures, and effective management of possible complications of puerperium in women for whom twin pregnancy and twin delivery per se are a considerable biological stress.
An Attempt to Estimate Normal Values of Peripheral Blood in Twins at the First, Third, and Sixth Day after Delivery
Authors: Domagala J.
Published: July 2016

A total of 26 healthy full-term infants from multiple pregnancies and a control group of 96 infants from single pregnancies, all from the Rzeszow district, were tested. Blood was taken from cranial veins at the first, third, and sixth day of life, always at the same time. All infants were kept under the same conditions. The results of the investigation show that (a) twin infants have lower values of peripheral blood than singleton infants in their first six days after delivery, and (b) the second twin has higher values of peripheral blood as compared with the first one.
Cardiovascular System in Newborns from Multiple Pregnancy
Authors: Rogoza Z.
Published: July 2016

This work presents the results of clinical observations and ECG examinations in 45 newborns from multiple pregnancies, including 27 full-term and 13 premature newborns. In both groups cyanosis was observed, the second twin born prematurely being most often affected. Changes in ECG include bradycardia, which occurs in the first 24 hours of life and chiefly in children born with asphyxia. The same newborns showed a delayed evolution of T wave. The similarity of ECG was noticed in 5 MZ pairs.
The Follow-up History of Children from Multiple Pregnancies
Authors: Banachowa T. , Miecznikowska M. , Rosciszewska-Krawczyk J.
Published: July 2016

Infants born from multiple pregnancies were observed for three years, 1969-71. Twin births were 1.88% {full-term 1.23%, premature 0,66%) and perinatal twin mortality was 7.94%. The Apgar scale assessment, acid-base balance, physical and psychomotor development equilibration rate, and morbidity, were determined. Great differences were found beween first and second twins, sometimes differing 1000 g in weight. In postnatal disorders the equilibration period was shorter than in single-born children. Examinations after three years did not show much deviation from the norm, although twin pregnancies and deliveries are dangerous and the children are included in the “high-risk” group.
Psychomotor Development of Twins in the First Six Months of Life
Authors: Chrzanowska D. , Zdanska-Brincken M.
Published: July 2016

Preliminary investigations on the psychomotor development of infants from multiple pregnancies have been carried out.

The psychomotor development in the first six months of life appears to he more similar in MZ than DZ twin partners. It further appears to be rather connected with birth weight than with birth order. The psychomotor development of twins with a birth weight exceeding 2300 g attains, as early as in the first six months of life, a level concordant with the standards established for singletons.
The Danzig Quintuplets: Course of Gestation
Authors: Metler S. , Rudzinski J.
Published: July 2016

After listing the known cases of alive quintuplets, the authors describe the recent case of the Danzig quintuplets, with special respect to the medical care given during pregnancy, labor and Puerperium. Early diagnosis and hospitalization in cases of multiple pregnancies appear to be necessary, to overcome the tendency towards premature delivery and to secure relatively higher degree of maturity.
Morphology of the Afterbirth of the Danzig Quintuplets
Authors: Metler S. , Meyer J. , Rudzinski L.
Published: July 2016

The morphological examination of the afterbirth of the Danzig quintuplets showed that it was composed of five fused placentas forming one single placenta, of extraplacental fetal membranes forming five separate fetal amniotic sacs and five umbilical cords. The structure of the placentas was very similar and no focal pathological changes were found in their texture. From a morphological point of view all separating membranes speak in favour of a quintovular pregnancy.
Psychomotor Development of the Danzig Quintuplets in Their First Year of Life. A Psychological Evaluation
Authors: Bogdanowicz M.
Published: July 2016

A psychological follow-up, based on the Brunet-Lézine Scale, showed a constant progress in the development of the quintuplets, the pace being quite proper from the 5th month on.

The children differed from each other: the best pace of psychomotor development was observed in Adam and Ewa, the worst in Piotr.

In all children, control of body posture showed the highest rate of development, exceeding the presumed norms. Some delay was observed in speech. The results of the examinations made by the Psyche-Cattell Intelligence Scale agree with those obtained by the Brunet-Lézine Scale.

Besides the differences in physical appearance, the children showed differences in personality features.
Multiple Pregnancy Induced by Ovary Hyperstimulation
Authors: Konefka H.
Published: July 2016

According to the data from the Danzig Institute of Obstetrics and Gynecology, among 69,100 deliveries in the years 1953-1972 there were 619 twins, 6 triplets, and 1 case of quintuplets. No multiple pregnancy was the result of hyperstimulation.

In the case of 100 women with primary sterility, treated also with clomiphene and gonadotropine, 67 pregnancies appeared and no case of multiple pregnancy was observed. No multiple pregnancy was observed in a sample of 50 women after discontinuing administration of hormonal contraceptives.
Multiple Births in Poland in 1949-1971
Authors: Rola-Janicki A.
Published: July 2016

A statistical analysis has been carried out on the frequency of twin and triplet births in Poland in the years 1949-1971.

These frequencies appear to be higher than expected on the basis of Hellin's rule, there being 1 twin birth in 87 single births and 1 triplet birth in 118 twin births.

The share of MZ vs. DZ twins having been assessed through Weinberg's method, an analysis is carried out on maternal age, parity, and urban vs. rural environment. It is concluded that the frequency of polyovulation increases with parity, whereas it becomes reduced with age on account of menopause effect already at age 40.
I Gemelli in Bulgaria
Authors: Ikonomov G. , Ikonomova M.
Published: July 2016

In Bulgaria, in un periodo di 88 anni, sono nati circa 12 500 000 bambini, di cui circa 300 000 gemelli, 4000 trigemini e 100 quadrigemini. Si è dunque avuta una frequenza di 1/80 per i parti gemellari, 1/6 000 per quelli trigemini, e 1/500 000 per quelli quadrigemini. In 69 anni (1894-1962) si sono verificati 23 parti quadrigemini, cioè, uno ogni tre anni.

Fino al 1912, la frequenza dei parti gemellari è stata dell'1.5%; 50 anni più tardi (1962), tale frequenza diminuisce della metà. Dal 1904 al 1912, su una popolazione di 60 00 000 di abitanti, sono nati 168 000-186 000 bambini all'anno; dal 1954 al 1962, su una popolazione di 8 000 000 di abitanti, ne sono nati 135 000-150 000.

La brusca diminuzione della natalità gemellare nel paese è più indicativa se si fa il confronto su 10 000 nati. Per i maschi, la frequenza cade da 221/10 000 a 165/10 000; per le femmine, da 234/10 000 a 170/10 000.
The Inheritance of DZ Twinning A study of 18737 maternities in Ibadan, Western Nigeria
Authors: Nylander P. P. S.
Published: July 2016

Twinning is regarded as a very important phenomenon among the Yorubas in Western Nigeria. In this population, special ceremonies are performed to mark twin deliveries, and twin babies and their parents are given special names. Twins are therefore more readily identified, and data relating to twinning in families are likely to be fairly accurate.

Furthermore, the practice of polygamy in Western Nigeria provides a good opportunity for studying both maternal and paternal factors in the inheritance of twinning. The high incidence of twinning in the population (45‰: Nylander, 1969) is also an additional advantage, since it allows a large number of twin maternities to be studied in a short space of time.

Among 18 737 deliveries in the three major hospitals in Ibadan, Western Nigeria, between October 1967 and June 1969, there were 977 twin maternities. Every mother was interrogated immediately after delivery to find out whether she or her husband was a twin or had twins previously (including those delivered by the husband's other wives), and whether she or her husband had twin siblings. Obstetric data, including maternal age and parity, were collected for each patient, and zygosity of the newborn twins was determined by sex, placentation, blood groups, placental enzymes, haemoglobin types, and G6PD electro-phoretic studies, as will be described in a subsequent paper.
L'Importance des Études Cytogénétiques pour la Concordance ou la Discordance des Jumeaux
Authors: Koch G. , Schwanitz G. , Rott H.-D.
Published: July 2016

Nos explications ont pour but de faciliter la compréhension de la concordance et surtout la discordance des jumeaux MZ et DZ moyennant les analyses chromosomiques. Dans les dernières années tout un nombre d'études concernant les jumeaux ont été publiées où chaque jumeau accusait le même phénotype et caryotype. Il s'agit de jumeaux MZ avec les syndromes de Down (Mikkelsen et Melchior, 1962), de Klinefelter (Bertrand et al, 1966; Holub et al, 1958; Nowakowski et al, 1963; Vague et al, 1968) et de Turner (Decourt et al. 1964; Frasier et al, 1961; Nance et Uchida, 1964; Turner et Zanartu, 1962); aneuploïdies doubles (Hustinx et al, 1961; Turpin et al, 1964); mosaïques gonosomiques (Mikkelsen et al, 1963) et caryotype XYY (Rainer et al, 1969).

Le problème de la discordance des jumeaux MZ nous préoccupe davantage que celui de la concordance, car en effet la discordance a été l'objet de maintes études. Le résultat n'est pas satisfaisant pour tous les jumeaux étudiés (Nielsen, 1967; v. Verschuer, 1927). À ce sujet, je tiens à rappeler la discussion qui a eu lieu dans l'Institut Mendel, au cours du Premier Symposium International de Génétique Médicale du 6 au 7 septembre 1953, entre Kallmann et v. Verschuer. Parmi les premiers savants il faudrait citer Meirowsky (1926) qui expliquait les causes de la discordance par un partage inégal du plasma lors du clivage du disque embryonnaire.
Chronological Development of Bones and Teeth A twin study
Authors: Gedda L. , Brenci G.
Published: July 2016

The hereditary component of the chronological development of bones and teeth has been studied, in 40 twin pairs aged 5-7 years, through dental age (defined on account of the mineralization of the permanent dentition's dental buds) and bone age (denned on account of the presence and form of the hand ossification nuclei).

The statistical analysis shows a correlation coefficient of 0.95 in MZ and 0.84 in DZ twins for dental age; and of 0.94 in MZ and 0.81 in DZ twins for bone age.

The following are therefore the estimates of the hereditary component (based on Holzinger's formula) for the two parameters studied:
Twin Studies in Sport and Physical Performance
Authors: Venerando A. , Milani-Comparetti M.
Published: July 2016

In his recent book Dr. Roy J. Schepherd states that:

“Further information of genetic effects is likely to be derived from comparisons of identical (monozygotic) and fraternal (dizygotic) twins. Gedda (1961) has already shown that identical twins are more likely to have a similar interest in sports than are fraternal twins. It would be interesting to carry out comparisons of maximum oxygen intake and other objective measurements of endurance fitness on the two classes of twins, but this crucial experiment has yet to be completed”.

We are very glad to be able to announce here that Dr. Schepherd's wish is being fulfilled within the scope of a wider research project undertaken jointly by the Gregor Mendel Institute for Medical Genetics and Twin Research and the Italian Olympic Committee's Institute of Sports Medicine under the auspices of the Italian Sports Medicine Federation.

The studies we have undertaken aim to assess the respective roles of genetic and environmental factors as related to selection and training in sports and physical education.

The twin method affords, through a comparison of MZ and DZ within-pair concordances, an assessment of the degree of genetic conditioning in any individual trait.

It is quite obvious that the possible influence of training on any given trait is inversely proportional to the degree of genetic conditioning of the same trait.

If a given trait, required for a certain type of activity, is completely or almost completely conditioned by the genotype, we should seek those who have inherited it from their parents without wasting time and effort in useless training sessions.

As we can see, the scientific information we are seeking has great practical importance in the selection and training of athletes in every single field of sports and physical education.
Three Serum Enzymes in Twins
Authors: Hosenfeld D. , Drössier E.
Published: July 2016

In a previous study (Hosenfeld and Schröter, 1970) we were able to demonstrate the activity of three serum enzymes, Cholinesterase (EC 3.1.1.8), ceruloplasmin (EC 1.10.3.2.) and alkaline phosphatase (EC 3.1.3.1) as individual characteristics which in healthy adults remain fairly constant for several months. For the purpose of investigating whether these quantitative features are genetically determined, we carried out similar studies on twins.

The twins were traced in the Birth Register of Kiel. A certain amount of selection could have been caused by the willingness to have blood samples taken and by the interest in obtaining Accident Cards. We examined 30 MZ and 30 same-sexed DZ twin pairs, aged 8-20 years. The average age of the two groups of twins was about 15 years. Among the MZ 15 pairs were female; among the DZ, 11 pairs.

Zygosity was established by polysymptomatic comparison of similarity. For documentation, color slides were made. ABO and Rh blood groups of all twins were determined, and in most cases further erythrocytic and serum properties. Blood samples were usually obtained in the afternoon about three to four hours after the last meal. The serum was centrifuged off and frozen. Enzyme determination was carried out during the next one to three weeks. Following substrates were used for estimation of the three enzymes: benzoylcholine, paraphenylendiamine and paranitrophenylphosphate. Acording to the methods of Richterich (1968), all measurements were carried out kinetically, employing a recording spectrophotometer (Beckman DB).
The Twin-Family Method in Psychiatric Genetics Illustrated from the Investigations of Franz J. Kallmann
Authors: Hurst L. A.
Published: July 2016

The present paper is aimed to celebrate Franz J. Kallmann's memory, by illustrating the twin-family method, which he developed. His phenomenal powers of organization are testified to by his extensive samples. Their representative nature has the built-in check of the ratio of MZ: DZ twins. He brought a refinement of his own to the existing methods of calculating expectancy from nett figures, that permits comparison of studies of varying age distributions relative to manifestation period. His investigative design allows not only for the standard global concordance comparisons between DZ and MZ twins as well as for those reared together and apart, but exploits the implications of the hitherto neglected comparison of the categories of sibs and DZ twins also. Further, his combined twin-family method comprehends in its extended range the powerful analytical tool of comparative figures for the series step-sibs, half-sibs, sibs, DZ twins and MZ twins (Kallmann and Sander, 1947; Kallmann, 1953). Kallmann (1954a, 1954b) has moreover given minute attention to controversies concerning legitimate inferences from twin studies, and has drawn attention to a point made by Darlington (1953), which is often overlooked by the best of geneticists. Discordance between MZ twins is not a measure merely of postnatal or even of prenatal environmental effects: it may also have a genetic component through the action of genes sensitive to cytoplasmic asymmetry.
La Double Fécondation chez l'Homme
Authors: Lamy M. , de Grouchy J. , Josso N.
Published: July 2016

L'hermaphrodisme vrai est une forme relativement rare d'état intersexué.

L'étude chromosomique, dans les cas de ce genre, montre habituellement soit des caryotypes normaux XX ou XY, soit des mosaïques chromosomiques, par exemple XX/XO. Ces mosaïques sont explicables d'une façon simple par les mécanismes généralement invoqués: non-disjonction gamétique, ou bien perte et non-disjonction chromatidienne, lors des premières mitoses du zygote.

Nous avons eu l'occasion d'observer un sujet de 20 ans atteint d'un hermaphrodisme vrai. Elevé comme un garçon, son aspect était ambigu: les poils du visage étaient rares, la pilosité pubienne de type féminin, la forme du bassin féminine, elle aussi; il existait une gynécomastie, la verge était de très petite dimension et les bourses étaient vides.

Une laparotomie exploratrice a montré la présence de tissu testiculaire et ovarien dans les gonades, ce qu'ont démontré les examens histologiques (Prof. Nezelof). A gauche, la gonade était constituée exclusivement de tissu ovarien. A droite, il s'agissait d'une glande mixte, d'un ovotestis. Les coupes histologiques ont décelé, en effet, à côté de tissu ovarien et de formations annexielles, des tubes séminifères et une formation épididymaire.

L'examen des frottis buccaux a montré l'existence de masses chromatiniennes dans 20% des noyaux cellulaires.
Monozygotisme Hétérocaryote
Authors: Turpin Raymond
Published: July 2016

Le monozygotisme hétérocaryote est une gémellité pathologique par trouble de la ségrégation chromosomique. Elle fut découverte en 1961 (Turpin et al, 1961), quand l'analyse d'un couple, garçon normal — fille typique de syndrome de Turner, prouva que ces jumeaux, malgré leurs caryotypes différents et leurs dissemblances consécutives, étaient MZ. Depuis, de nouveaux exemples de monozygotisme pathologique ont été publiés, caractéristiques de types nouveaux.

Le couple qui révéla ce monozygotisme anormal, jusqu'alors insoupçonné, était composé d'un garçon et d'une fille âgés de 17 ans et issus d'une grossesse monochoriale, d'après l'aspect macroscopique du placenta.

Le garçon était normal: 56 kg; 165 cm; QI 125.

La fille était anormale: 40 kg; 142 cm; QI 106 (difficultés scolaires).

En dépit de son âge, elle n'avait jamais été réglée. Allant de pair avec cette aménorrhée, l'on notait l'absence des caractères sexuels secondaires sans malformations des organes génitaux externes. Par contre, certaines dystrophies évoquaient un syndrome de Turner: pterygium colli, cubitus valgus. Une laparotomie révéla un développement utéro-tubaire normal, mais l'absence des gonades droite et gauche. Le taux des gonadostimulines dépassait 100 u S/24h. L'étude de cellules jugales ou de culture (fascia lata) en interphase, ne décela aucun corpuscule chromatinien nucléaire.

Deux cousines au 4ème degré de la mère de ce couple avaient eu elles aussi des jumeaux, l'une garçon et fille, l'autre de type ignoré.
Il Fenomeno Gemellare nelle Famiglie di Pazienti Affetti da Disgenesia Gonadica con Fenotipo Femminile
Authors: Bigozzi U. , Montali E. , Salti F.
Published: July 2016

È stato più volte segnalato che nelle fratrie di pazienti affette da disgenesia gonadica si verificano parti multipli in numero più elevato del normale. Nelle casistiche riportate (Boyer et al, 1961; Lindsten, 1963; Nance e Uchida, 1964), l'incidenza dei parti gemellari oscilla dal 25% al 63%; considerando globalmente tutti i casi degli autori citati (524 nascite), la frequenza risulta del 32%. Un'elevata incidenza di parti gemellari è segnalata anche fra ascendenti e collaterali delle pazienti.

Il fenomeno viene attribuito a fattori, probabilmente in parte ereditari, che possano provocare un'instabilità nei meccanismi che regolano le divisioni cellulari, tan to nella gametogenesi che nell'embriogenesi (Root et al, 1964). Si deve tuttavia segnalare che nelle fratrie dei pazienti con sindrome di Down, nonostante un errore meiotico nell'ovogenesi e l'età materna più elevata della media, non si osserva un numero di gemelli superiore al normale (∅ster, 1953; Allen e Baroff, 1955).

il quadro clinico e quello cariologico delle disgenesie gonadiche con fenotipo femminile sono alquanto variabili (Giusti et al, 1966). Si possono distinguere: (1) sindrome di Turner tipica, con bassa statura, quadro malformativo completo, compreso il tipico pterigium colli; (2) sindrome di Turner attenuata, con quadro malformativo attenuato, generalmente senza pterigium; (3) casi senza alcuna malformazione, eccettuata la bassa statura; (4) casi con disgenesia gonadica pura che presentano un aspetto somatico completamente regolare, salvo Pinfantilismo. Nella sindrome di Turner tipica il cariogramma rivela quasi sempre il caratteristico ipoploidismo XO; nei casi di disgenesia gonadica pura il cariotipo è molto spesso normale; negli altri casi il quadro è variabile: fra i soggetti con mosaicismo di tipo XO/XX prevalgono quadri di sindrome di Turner attenuata; fra quelli di tipo XO/XY sono abbastanza frequenti le neoplasie gonadiche del tipo del gonadoblastoma.
Conjoined Twins — A Genealogical Study
Authors: Callahan George B. , Mitchell Roy C.
Published: July 2016

Beautiful and brilliant, content and capable, skillful and successful, these and multiple other adjectives may be used to describe persons on a family tree of Eng-Chang, the original Siamese twins (Fig. 1). These men chose the State of North Carolina for homes, and are considered among its most renowned citizens. They had some of the above characteristics and their descendants shared others.

Data upon six generations of Eng-Chang families — some verified by their 1836 pamphlets, others as recent as 1969 court records in their county residence — are shown in the following table:

Fig. 2 shows second and third generations in family groups made in the summer of 1865. Nine of Eng's 11 children are shown; 2 had died young. Likewise, 9 of Chang's 10 children are seen; one was born in 1868, as certified by Edinburgh's famous Prof. James Y. Simpson (1869). Two sets of twins, not joined, are recorded in their descendants. Though some members on this family tree are difficult to certify, the data available in these six generations are by far the most comprehensive found. Chromosome and other genetic studies are being initiated and pursued in anatomy departments of American and Thai Medical Schools.
Twins With Clefts
Authors: Pruzansky S. , Markovic M. , Buzdygan D.
Published: July 2016

The concurrence of two experiments of nature, twins and congenital birth defects, provides a unique population for the elucidation of nature-nurture questions. Although the concurrence of twins with clefts is not common, their frequency in the aggregate of international reporting is sufficient to allow for meaningful studies.

In a recent conference on the genetics of cleft lip and palate, Fraser (1968) summarized the state of knowledge regarding etiology. The following quotation from his report is pertinent to the present paper:

1) In the majority of cases, cleft lip or cleft lip and palate [CL(P)] represents a quasi-continuous variant, or threshold character of multifactorial etiology. For cleft palate [CP] there is less convincing information;

2) Observations on arch form, face shape, body asymmetries and developmental variables suggest that such variants may underly the predisposition to clefts;

3) Twin studies may be useful in identifying the physiognomic factors predisposing to facial clefts.

With these concepts in mind, we initiated an analysis of 19 twin pairs selected from the continuing longitudinal growth study which began at our Center in 1949 (Pruzansky and Lis, 1958).
The Genetic Control of Blood Pressure under Experimental Stress
Authors: Osborne R. H.
Published: July 2016

Different forms of cardiovascular disease, including hypertension, give evidence that heredity is a predisposing factor. Yet, family and twin studies of blood pressure have consistently given inconclusive results. In earlier twin studies, Mathers et al (1961) and Osborne et al (1963) presented evidence that blood pressure liability rather than the measured levels of the blood pressure may constitute the critical manifestation of the genetic variable to be investigated.

A twin study has been conducted in which blood pressure measurements were obtained under basal conditions and following experimental stress. The results of this study and comparisons to the earlier studies will be presented.
The National Heart Institute Twin Study
Authors: Feinleib M. , Havlik R. J. , Kwiterovich P. O. , Tillotson J. , Garrison R. J.
Published: July 2016

During the past two decades prospective epidemiologic studies have established the association between several risk factors and coronary heart disease. Elevations of serum cholesterol and blood pressure, obesity, lack of physical activity and cigarette smoking are among the factors which have been related to an increased risk of heart disease. We are now entering a period in which vigorous efforts will be made to modify these factors in order to prevent the occurrence of heart disease. An important part of this effort will be to determine to what extent these factors are genetically controlled and to what extent they can be modified by manipulation of the individual environment. Recognizing this need, the Field Epidemiological Research Section, National Heart Institute, NIH, has recently embarked on a study of cardiovascular disease risk factors in a large sample of adult male twins. The purpose of the present report is to describe the protocol and methods to be used and the importance of this study to current research in cardiovascular disease.
Blood Pressure and Personality Differences in MZ Twins
Authors: Torgersen Svenn , Kringlen Einar
Published: July 2016

Our starting point was Franz Alexander's well-known hypothesis about the hypertensive personality. According to Alexander (1939), hypertensive patients are characterized by a neurotic conflict between passive dependent tendencies and over-compensatory, competitive, hostile impulses. Hypertensive patients seem to be anti-aggressive, submissive, polite, and reserved. At the same time, they show no direct neurotic symptoms such as anxiety, obsessive ideas, or conversion symptoms. Hypertension may be looked upon as a substitute for symptom neurosis. According to Alexander, hypertensive patients are unable to express freely aggressive impulses, and at the same time unable to repress or absorb the impulses through symptom formation. An accumulation of psychic energy takes place, which manifests itself in constant vasomotoric stimulation. In the long run, this development may be able to change the balance of the baroceptors and finally destroy the circulatory system.

A sample of MZ twins is particularly suitable for studying the influence of inhibited aggression on blood pressure. In addition to the methodological advantages of controlling the genetic and external environmental factors of childhood, one frequently finds a casting of roles with one of the twins dominant and aggressive, and the other as a submissive and timid partner.