bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cromatina sessuale e tumori
Authors: Torrioli Mario , Lauri Gianfranco 
Published: July 2016

SUMMARYThe Authors confirm the possibility of a discordance between the sex-chromatin of the cells in the breast-carcinoma and that of the cells of a tumour carrier. It is assumed that the somatic mutation giving rise to the formation of the somatic cell might also involve sex-chromatin.
Malattia da Emoglobina A2 elevata - Microcitemia
Authors: Lucci R. , Soffritti E. , Borgatti L. , Cabassa N. 
Published: July 2016

SUMMARYThe AA. report 2 cases which are very similar to the Cooley disease and the careful genetic and haematologic observation of parents and relatives has pointed out an increase in the haemoglobinic fraction A2 in the husbands but no microcytaemic peculiarity at all.After discussing the possible relationship to the microcytaemic stigmata the A2 try to see the case among the veritable haemoglobinopathies of this rare genetic form.
Über besondere Zwillingskonkordanzen
Authors: Grebe Hans 
Published: July 2016

SUMMARYReport about some observations with special concordance in 4 pairs of identical twins with kidney-stones, one pair of especialy concordant allergies, hyperthyreosis and cystical-glandular hyperplastic uterus and a pair of identical twin sisters, on-concordant congenital dislocation of the hip, resistant to all therapeutic essays.The especially concordance of the demonstrated twins is to be explained, that in the cases observed by the author is to suppose a stronger effect of chief gens and a lower manner of modifying by side gens or exogen ly ten years old, with particulary factors than in the ordinary states of twins with corresponding hereditary diseases.A finally demonstrated pair of non identicaly twin brothers with same deformities of the knees and same clinical symptoms) directs, that beside the same genotypus also the same exposition may realize especially twin concordances.
Ricerche genetiche e clinico-statistiche sulle neoplasie della prostata
Authors: Gianferrari Luisa , Arrigoni Giacomo , Cresseri Angelo , Lovati Giuseppe , Morganti Giuseppe 
Published: July 2016

SUMMARYThe Authors refer the results of a genetical, clinical and statistical research on a group of 265 patients with cancer of the prostate. The data show a significant familiar incidence only for the cancer of the same site.
Sul diabete giovanile misto famigliare
Authors: Casa Domenico 
Published: July 2016

SUMMARYThe A. presents the case of two sisters, both affected by mixed juvenile diabetes: diabetes mellitus and diabetes insipidus.Three of their brothers died of diabetes millitus.After discussing different etiological hypotheses, the A. indicates the hereditary one as the most likely.Probably, in the case of the two sisters, there was an association of two hereditary processes, independent of one another, but coexistent.
Ausdruck und Verhalten erwachsener Zwillinge (Eine erbpsychologische Filmuntersuchung)
Authors: Spindler Paul 
Published: July 2016

SummaryA film has been made of 8 pairs of monozygotic and 4 pairs of dizygotic twins regarding their expression and behaviour, and we tried to examine their behaviour on genetical characters.We do not agree, that all telencephalitic action is under control of the individuals' arbitribum; instead we stress that genetical characters are also important components.A « plastic » adaptation to the given circumstances of the surroundings is provided by the qualitative and quantitative manyfoldednes of the telencephalon. The actions of man appear to be much more of free will than they really are.
Cervical arteriovenous anastomosis in one of identical twins
Authors: Rankin Robert M. 
Published: July 2016

In recent years various surgical procedures have been attempted to improve the cerebral function of mentally retarded or cerebral palsied children. One of these is the anastomosis of the carotid artery and jugular vein in an effort to improve the cerebral blood flow. This has been reported to have some degree of success, but the results are of questionable value because of the necessary lack of suitable controls. In this paper are presented the case histories of such an operation on identical twins, one operated and the second serving as a perfect control.The family history of the twins was significant in that there was a strong history of mental disease on the father's side. Several members of his family had been confined to mental institutions. No clinical diagnoses are known but at least one was known to be a sexual pervert. The father had been in a mental institution before and after the birth of the twins and had received electric shock therapy, with no demonstrable improvement. He also was a sexual pervert. The parents were divorced when the twins were twenty months old. Before and after the divorce the twins and their mother were subjected to physical violence by the father. The twins were said to be extremely fearful of the father. There were no other children, and no other pregnancies.Pregnancy was uneventful. Delivery was at term following a five day labor. Donald, the twin who was subsequently operated, was born first with a birth weight of six pounds, seven ounces. David, born a few minutes later, weighed six pounds, eight ounces.
Su alcuni casi di anomalie dento-mascellari di origine genica
Authors: Hertel A. 
Published: July 2016

SUMMARYAfter having stressed the importance of the hereditary problem in the field of dento-maxillary orthodontics, the A. considers hereditary evidence of the dento-maxillary anomalies and gives a review of literature on the subject.He further considers the dento-maxillary anomalies trasmitted by genes, dominant and recessive, conected with sex and finally a few cases treated by him personally.They are cases of family and twin, hypodontia, macrodontia, rotation and twisting, bad positions, hypodevelopment of a halfarcade, prognathism and overbite.
La structure génétique de la population humaine
Authors: Gedda Luigi 
Published: July 2016

Jusqu'à nos jours, la connaissance de la population humaine est toujours résultée d'une double recherche, à savoir: la recherche bio-typologique, développée par l'anthropologie, et l'analyse mathématique de certaines données statistiques effectuée par la démographie.Deux recherches, deux sciences, mais surtout deux niveaux de connaissance: en effet, bien que détachée du plan immédiat de la recherche physiologique, la démographie embrasse les aspects fonctionnels de l'espèce humaine, tels que la naissance, la mort, la fécondité, etc., alors que l'anthropologie est plus particulièrement une entreprise morphologique.Il y a quelques années, les résultats somatiques de l'anthropologie, et les résultats dynamiques de la démographie, étaient en quelque sorte contaminés par le racisme. Le danger de cette contamination était d'autant plus grave qu'il concernait également des secteurs situés au dehors de la science, comme par exemple celui de la politique. En effet, sans même mentionner les conséquences pratiques dérivant des principes, le racisme a soulevé, du point de vue scientifique, une véritable confusion.En ce qui concerne la population humaine, un niveau de connaissance, sérieux et nouveau, apparaît aujourd'hui sous les termes de «génétique de la population» ou «génétique démologique» ou «démogénétique»
La curva eritrocitometrica nei gemelli
Authors: Torrioli Mario , Torrioli Giuseppina 
Published: July 2016

Già da tempo il sangue dei gemelli è stato studiato dal punto di vista biometrico ed in particolare dal punto di vista eritrocitometrico (Glatzel 1931, Ostertag 1935).Siamo tornati sull'argomento délla comparazione delle misure eritrocitometriche di coppie di gemelli perché convinti della grande importanza teorica e pratica di questo studio, tanto dal punto di vista strettamente genetico, quanto dal punto di vista medico, dati i ben noti vantaggi del metodo comparativo gemellare.Le misurazioni vennero eseguite con un microscopio universale Galileo, direttamente sull'immagine reale proiettata su di uno schermo di vetro smerigliato 16 × 18. L'obbiettivo impiegato fu un 99 × e il tiraggio dello specchio proiettore venne aggiustato fino ad ottenere i 2000 ingrandimenti esatti, tarati con un vetrino micrometrico. I preparati furono dei comuni strisci a strato rigorosamente monoglobulare, colorati con May-Grunwald-Giemsa. La colorazione venne spinta un poco oltre i tempi comunemente usati, per ottenere una maggiore nitidezza di contorni nella proiezione dei globuli rossi.Le misurazioni vennero direttamente eseguite sulla lastra di vetro smerigliato, mediante un regolo millimetrato trasparente.Con detta tecnica, risultando un micron delle dimensioni di 2 millimetri, riescì esatta la misurazione di mezzo micron e discretamente approssimata quella del quarto di micron.
Ein Beitrag zur forensischen Verwertbarkeit der Rh-Untergruppen
Authors: Hallermann W. , Nagel V. 
Published: July 2016

SUMMARYThe suitability and reliability of the Rh-Antigens is being discussed in details in the light of a great number of forensic serologic tests carried out in our Institute in cases of discussed parentage (859 contracting parties, 1251 males involved).The frequency of paternity exclusions observed does greatly conform with the frequency expected. Differences noted are either very small or are in the range of standard deviation.Authors emphasize that it is necessary to repeat the test especially if a criminal case is concerned or if an accused father can be excluded.
Studies on the heredity of the human blood groups II. The A-B-O groups
Authors: Wiener A. S. , Gordon E. B. , Cohen L. 
Published: July 2016

Summary and conclusionsThe results of studies on the heredity of the A-B-O groups in a new series of 426 families with 649 children are presented. No exceptions were encountered to the multiple allele theory of heredity of the A-B-O groups and subgroups of A. During the period 1929 to 1952, a total of 1590 families with 3398 children have been tested for the A-B-O groups and only two contradictions to the Bernstein theory of inheritance were encountered, both apparently due to illegitimacy. Statistical analysis reveals a satisfactory agreement between the observed frequencies of blood groups in the children and those predicted under the theory of multiple alleles. While the A-B-O groups are reliable for medicolegal application in cases of disputed parentage, the subgroups of A should not be applied in such cases. The reason for this is that it has been impossible up to now to prepare anti-A1 reagents of satisfactory titer, avidity, and specificity, comparable to anti-A and anti-B reagents which are available. As a result, subgrouping tests, particularly of newborn babies, do not give entirely reliable results.
A deaf-mute and a “hearing-mute” uniovular twin
Authors: Wildervanck L. S. 
Published: July 2016

Summary1. Description of an identical, concordant, deaf mute twin suffering from a perceptive deafness. In the family there occurs no more deafness, on the other hand there are many twins, both M T and D T among their relatives.2. Description of an identical, concordant, “hearing mute” twin. Up to their eigth year they did not talk at all, they learned speaking when they made their entrance into the Institute for deaf-mutes. They are feebleminded. A brother speaks badly and is slow in intellect too, three cousins of their mother were idiotic.
Multiple Birth Frequency according to Parity and maternal Age
Authors: Stocks Percy 
Published: July 2016

SUMMARYThe Author has examined the published statistics of multiple births in England and Wales 1938-45, in Italy 1948-49 and in New York 1936-37, to see to what extent the apparent increase in frequency of twin births as parity increases amongst mothers of a quinquennial age-group is exaggerated by the mere fact of grouping. He concludes that the effect of the 5 year grouping on the rates is small, and that the data from the three countries indicate that at certain ages the probability that a birth will be multiple tends to increase with the order of the birth.
Data of Twin Births occurring in 2 English metropolitan Hospitals
Authors: Karn Mary N. 
Published: July 2016

SUMMARYA sample of 583 twins, delivered in two English hospitals, and divided into groups of like sex and unlike sex, has been analysed as regards distributions, means and standard deviations of mother's age, order of birth, birth weight and length of gestation time.In birth weight the unlike sex have greater means than the like sex, from which it may be deduced that dizygotic twins are heavier at birth than monozygotic.The correlation of birth weight in twins is 0.727 for like and 0.676 for unlike sex.Length of gestation time has a correlation with birth weight of 0.345 for like and 0.403 for unlike sex.Neonatal mortality (including stillbirths) is high for twins, being 16.6% as compared with 4.5 % in single births. When these rates are sub-divided into groups of birthweight, it is found that the rates for the very low weight groups are a little better for twins than for single births, but those round the mean and above it are about 3 times those for single births of average or above average weight.The mortality rates are a little lower for twins of unlike sex.
Tendenze incestuose e distacco di una coppia gemellare di diverso sesso
Authors: Volta Amedeo Dalla , Zecca Graziella 
Published: July 2016

SUMMARYIn a pair of 14 year old DZ twins of different sexes, a particularly profound emotional separation becomes manifest during childhood.The twins come from a family whose members are considerably introvert, and where very few exchanges of emotional manifestations take place. The male twin offers a more fundamental alteration of personality, and his emotional control is often overwhelmed by antisocial tendencies of relative frequency. In accordance with her family surroundings his twin, instead, possesses a particularly rigid and severe moral conscience.The twins are spiritually separated when at the age of eight and nine years, the boy attempts certain sexual approaches on the little girl. At first the child consents, but gradually a most intense feeling of guilt rises up in her, which is accompanied by an aversion, rapidly changing into invincibile hatred towards her brother, whom she fears will subject her to further sexual practises.Notwithstanding the preponderance of the sexual factor, the antisocial behaviour of the boy, also contributed to a certain extent to this separation.From a psychoanalytic point of view, the girl's behaviour, characterised by a typical inversion of feelings could be in- terpreted as a reaction formation.As the boy has been classified from a psychiatric diagnosis as bearing a psychopathic personality which occupies a position between neurosis and psychosis, the eventual possibility of a certain degree of familiar and social adjustement is not to be excluded.
Systematics of the Age-Dependence of Some Neurological Disorders
Authors: Burch P.R.J. 
Published: July 2016

The age-dependence of malignant diseases has received various interpretations, whereas that of nonmalignant diseases has been relatively neglected. Nevertheless, the age-distributions of diseases in both categories conform to the same stochastic laws.Many, and perhaps all, natural disorders with a reproducible age-pattern can be described in terms of a simple model: The disease process is initiated in a genetically-predisposed person through the random occurrence of a small number (r) of somatic gene mutations in each of a small number (n) of growth-control stem cells. Each specifically-mutant stem cell propagates a “forbidden clone” of descendant cells. These cells, or their humoral products, attack those target cells that carry complementary recognition macromolecules. The resulting disturbance to target cells leads to the symptoms and signs of autoaggressive disease. In the classical infectious diseases, an extrinsic factor — the invading microorganism — is essential to the release of forbidden clones from restraints imposed by the host's endogenous defence mechanism.This general thesis is illustrated with reference to the age-distributions of. Wilson's disease; idiopathic facial (Bell's) palsy, recovery and denervation groups; poliomyelitis; Parkinson's disease; schizophrenia; and multiple sclerosis. Clinically-distinctive forms of a given disease, such as Huntington's chorea or Bell's palsy, often have a distinctive age-pattern.In addition to differences in n and/or r, it can be inferred that each such clinically-distinctive form of a disease is characterized by a distinctive predisposing genotype. The age-dependence of each stage of a progressive disease has a special interest.Thus, the onset of “definite and probable” cases of Parkinson's disease (Mayo Clinic data) requires two forbidden clones, each of which is initiated in a predisposed person by five specific somatic mutations. Late deaths from Parkinson's disease (as recorded by the Registrar General of England and Wales) require a third such forbidden clone.Progression in this neurological disorder, as in certain malignant diseases, corresponds to an increase in the number of pathogenic forbidden clones. The internal mathematical and biological consistency of this type of quantitative evidence powerfully corroborates the forbidden clone theory of age-dependent autoaggressive disease.
Tapetoretinal Degeneration in Three Mentally Retarded Sisters with Other Disorders in the Family Tree
Authors: Jancar J. , Walters Ruth M. 
Published: July 2016

Three sisters suffering from tapetoretinal degeneration and other eye anomalies, mental retardation, skeletal abnormalities, and unusual dermatoglyphs, are reported.The family tree of four generations is presented which reveals the following other disorders: diabetes mellitus (2 M), rheumatoid arthritis (2 F), mental retardation (2 M), congenital heart disease (1 F). A great niece of the propositi is known to suffer from tapetoretinal degeneration, mental retardation, epilepsy, cerebellar ataxia, and deafness. One miscarriage and one infant death are also noted.The mode of inheritance and relationship to other syndromes with tapetoretinal degeneration are briefly discussed. The chromosomal studies, relevant biochemical and other investigations, are within normal limits.
Unusual Aspects of Goldenhar's Syndrome
Authors: Grignolo A. 
Published: July 2016

A case of oculo-auricolo-vertebral syndrome is presented.A child, aged 8 months, was found to have epibulbar dermoid and subconjonctival lipodermoid in the right eye associated with preauricular appendices and a peculiar appendice located at the point of the nose.Radiographic examination showed cuneiform anomalies of the cervical vertebrae, schisis of the dorsal vertebrae, and a marked calcification of the cerebral faulx. The child's mother presented similar vertebral anomalies and a supranumerary rib.
Myasthenia Gravis and the HL-A System
Authors: van den Berg-Loonen Ella , Engelfriet C.P. , Feltkamp T.E.W. , Nijenhuis L.E. , Oosterhuis H.J.G.H. , van Rossum A.L. , van Loghem J.J. 
Published: July 2016

On the basis of a research on 100 patients a correlation is shown to exist between myasthenia gravis and HL-A 8.The findings further support the supposition that myasthenia gravis should be divided into two types, respectively showing an increase of HL-A 8 and an increase of HL-A 2.
Genetic Studies of Acute Werdnig-Hoffmann Disease
Authors: Pearn J.H. 
Published: July 2016

A large genetic survey of all infantile and childhood spinal muscular atrophies has been undertaken. Two large series have been studied, one consecutive series of 160 patients presenting to the Hospital for Sick Children, London, and approximately 60 patients from the Muscular-Dystrophy-Group Research Laboratories, Regional Neurological Centre.Using the techniques of sibling-sibling correlation it has been shown for the first time that the acute fatal infantile form (classical acute Werdnig-Hoffmann disease) is a distinct genetic entity. It is then possible by such genetic techniques to define accurately the clinical syndrome.Implications for genetic counselling are discussed. Gene frequency studies have been undertaken from this research project and it is now known that the carrier rate for the acute Werdnig-Hoffman disease gene is in the range 1:60 to 1:90 in the British population.
XYY Caryotype and Medulloblastoma
Authors: Rosano M. , Delellis M. , Massara B. , Ditondo U. , Casini C. 
Published: July 2016

The case is described of a child who presented a slight psychomotor retardation and malformative signs, together with an XYY caryotype, and who died at the age of 7 years from a medulloblastoma, as could be later confirmed by autoptic examination.The relations between chromosomal and neoplastic pathology are described.
Analysis of Microsymptomatology in CNS Malformations
Authors: Porto G. Del , Brenci G. , Tombolini M. L. 
Published: July 2016

A total of 105 sibships with one or more members affected by CNS malformations have been drawn from the Mendel Institute's Eugenic Counseling file and examined. The mode of inheritance and the variability of segregation have been verified according to the presence or absence of spina bifida occulta in one or both parents.The results obtained lead the authors to suggest that the expression of major genes responsible for the pathology be conditioned by minor genes responsible for localization.
On the Epidemiology of Juvenile Amaurotic Idiocy in Denmark
Authors: Kristensen Kirsten , Lou Hans Christensen 
Published: July 2016

Juvenile amaurotic idiocy is an autosomal recessive disease with onset around 6 years of age. Principal symptoms are: blindness; dementia; focal and generalized seizures; cerebellar, striatic, and pyramidal deficits; and psychosis. The course is progressive, common duration 10-20 years. Epidemiological studies are very few, but important work has been done by Sjöstrand and Rayner in Sweden.The preliminary results of the present study indicate a rather higher incidence of the disease in Denmark. It is furthermore demonstrated that there is no evidence of consanguinity between parents, and that the disease is geographically evenly distributed. These findings are in contrast with earlier epidemiological investigations.
Pathomorphologic Changes of the Cardiovascular System in Twins
Authors: Rose I. 
Published: July 2016

The author reports on primary diseases and on secondary reactions of adaptation in fetal hearts of twins. Cases of fibroelastosis endocardica, cases of hypertrophy of the heart, and the circulatory reactions following feto-fetal transfusion in twins, are discussed.Using histochemical methods, several enzymes of the myocardium in deceased twins have been investigated.
Course of Serologic Incompatibility in Twin Fetuses
Authors: Robaczynski J. , Robaczynska G. 
Published: July 2016

The course of hemolytic disease is generally more severe in twin than in single-born infants, because of prematurity prevailing in twin births and resulting prolonged hospitalization.The course of hemolytic disease in double conflict (ABO and Rh) does not appear to be milder than in single Rh incompatibility. In one case it was even found to cause more extensive damage to one fetus, as compared to the other with simple Rh conflict.
Oxytocinasemi a in Multiple Pregnancy
Authors: Klimek R. , Bryniak C. , Kallista-Milewicz W. , Milewicz S. , Paradysz A. 
Published: July 2016

The determination of oxytocinasemia is the method of choice in monitoring multiple pregnancy. An increase in the level of the enzyme indicates a normal development of the pregnancy.Although, as a rule, the oxytocinasemia level is higher in multiple than in single pregnancy, there are cases with a level pointing to intrauterine fetal danger, if, in a gestation beyond the seventh lunar month, it is lower than 4 μmol∣l∣min.The birth of a newborn with a body weight below 2500 g, when the oxytocinasemia level exceeds 12 I.U., indicates that a multiple pregnancy is involved.