bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ricerche immunoelettroforetiche sul sangue funicolare nei gemelli
Authors: Abelli G. , Esposito A. 
Published: July 2016

SUMMARYThe Authors have investigated by means of the immuno-electrophoretic method the protein composition of the funicular blood of 19 twin-pairs from pregnancies of 5 to 9 months. Monochorionic twins showed a concordant picture, while in 7 of the 14 bichorionic twin-pairs slight differences could be observed, due to the presence in one of the twins of one or two more lines. The Authors put these results in correlation with the hypothesis of a genie control of the production of proteins.
La ricerca gemellologica nell'epilessia
Authors: Braconi L. 
Published: July 2016

SUMMARYThe A. has studied 51 pairs of epileptic twins: 20 were MZ (11 ♂, 9 ♀) and 31 DZ (9 ♂ 12 ♀, ♂♀).An ereditary aetiology has been found in 65% of cases:a) by the concordance of 80% of MZ against 35% of DZ. The MZ concordant in the symptomatic form were 62,5% the DZ 14, 5% the MZ concordant in the so-called idiopathic form were 91%, the DZ 50%.b) by the incidence in one third of the families of a relative with epileptic seizures (3-4,7% against the 0,5% of general population).Genic information is not specific either for the convulsive form nor for the electroencephalografic dysrythmia which are only some of the phenotypic manifestations of a deeper disturbance. The pathologic gene or genes should act at a metabolic level with a pleiotropic action upon more functions of the nervous system. The genetic action of the major gene is that of an autosomic, dominant one.
Studio Radiologico sul Comportamento della Ossificazione di Fratelli nel Periodo Neonatale
Authors: Bergamaschi P. , Coucourde F. 
Published: July 2016

SUMMARYThe behaviour of the ossification in newborn brothers has been radiologically examined. The findings indicate a uniform behaviour with respect to the duration of the pregnancy in the sons of the same mother. The authors pointout the possible interpretations of this fact.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). I - Ricerche sui fattori ereditari del reumatismo acuto primario
Authors: Serneri G. G. Neri , Bartoli V. 
Published: July 2016

SUMMARYThis study is based on pedigrees of 287 patients with Rheumatic Fever, which are compared with pedigrees of 300 controls: 11,7 per cent of all relatives in the first group had rheumatic fever, compared to 2,2 per cent of all relatives in the control group.An hereditary predisposition to rheumatic fever is definitevely to be admitted.This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity.It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesi of degenerative connective tissue disorders mesenchymotic diathesis.
Sur le postulat de la comparabilité dans la methode des jumeaux
Authors: Zazzo René 
Published: July 2016

SUMMARYAmong the postulates of the twin method the Author describes especially the fundamental one of comparability. Whenever one assumes that the differences between monozigotic twins are due only to heredity (this is the basis of the twin method), one postulates in fact that environmental influences are of equal importance and act in the woy to differentiate one from the other both monozygotic and dizygotic co-twins.The comparison between the two types of twins implies the identity of environmental influences and a conception of heredity and environment as indépendant variants.As far as the psychological environment is concerned, the Author faithfully reports works on twin-condition: psychologically environment is defined according to the structure of the pair, of the duty of each co-twin the pair, and thus: a) two identical twins never hare an exactly identical environment; b) the environment of identical twins is never the same as that of non-identical twins.Concerning pre-birth and peribirth conditions, the Author reaches the same conclusions of non-comparability between monozigotic twins, dizygotic twins and control groups of non-twins: difference in lenght of pregnancy, in weight at birth, in the rate of stillbirth and new-born deaths, in the mother's age.The Author concludes not for abandoning the twin-method but for a revision of the criteria, and for a change of perspective.The failure of comparison and of mathematical analysis applied to the difference between heredity and environment is not. completely negative. It reveals the inadequacy of such criteria at least in the field of psychology, and leads to overcoming them. The psychological environment does not appear as a still picture, but rather as a situation defined by the inter-social and differential duties. Furthermore, heredity and environment are variants closely dependent on each other.
Lo studio dei gemelli
Authors: Gedda Luigi 
Published: July 2016

SUMMARYThe report explains how twin-studies may affect the science of population, both directly by their frequency and determining factors, and indirecdy in as much as twins provide a useful research method to study the physical and psychological traits which identify a human population.It is possible, in fact, through the method of intrageminal-in-tergeminal comparison and through other methods, to study the population's normal and pathological traits.As far as diseases are concerned the twin method affords the chance to discover or to reassert the hereditary nature of many diseases as well as the hereditary aspects of morbid receptivity and reactivity in the esogenous diseases; furthermore, it is possible to probe deeper while studying hereditary diseases especially in the fields of phenogenesis, variability and nosological classification.The study of psychological traits in twins makes it possible to identify the instinctive tendencies and the hereditary components of the mental functions; also the study of learning capacity and of psycho-somal phenomena based on heredity.In order to make it easier to complete twin studies on an increased number of twin sets, statistical surveys and social provisions of various kinds in favor of twins (which already have yíelded good results in Italy) are advocated.
Il mostro di Vipiteno (xifodimo tetrabrachio maschile)
Authors: Gedda Luigi 
Published: July 2016

SUMMARYThe Author reports a case of xifodimus tetrabrachius born in March, 1954, in the Hospital at Vipiteno (Italy) and, in the discussion, points out the improvement the case can bring about in the knowledge of double faetal malformations, their classification, their causes and their mechanism.The mother had had a previous case of twin pregnancy.
Une mère et ses deux filles jumelles univitellines atteintes de chondrodysplasie
Authors: Pfändler U. 
Published: July 2016

SummaryTill to-day there are very few concordant and discordant twin pairs known with regard to chondrodysplasy. We describe here a family in which as well the mother as also her both twin daughters are affected with this disturbance of development. The monozygosity of the sisters is beyond all doubt.
Nanismo degenerativo tipo di Amsterdam (Typus Amstelodamensis – Malattia di Cornelia De Lange). Presentazione di un caso e considerazioni di ordine genetico
Authors: Borghi A. , Giusti G. , Bigozzi U. 
Published: July 2016

SUMMARYThe authors describe a new case of degenerative nanism « typus amstelodamensis », which shows all fundamental characteristics of the syndrome. From the hormonic research, which was carried through for the first time, resulted normal values (for the age of patient); this fact proves the fundamental normality of the endocrine system, which was already found by De Lange in the anatomical-pathological field.Moreover, the genealogical examination led for the first time to the assumption of the existence of a genetic factor causing this particular type of a multiple degeneration.
Trigemellanza dizigotica con alopecia congenita acromotrichia e linea palmare trasversa concordanti nei trigemini monozigotici
Authors: Gedda Luigi , Benigni Amelia 
Published: July 2016

SUMMARYThe Authors descrive a case of ten-year-old dizygotic triplets (two monozygotic males and one female) of which the dizygotic twins on concordantely affected by congenital alopecia acromo-trichosis and transverse palmar line.The findings are connected with a double hereditary disease (epilepsy and another ailment of the nervous system) found in the triplet's family tree.The Authors point out that in the literature this si the first reported case of concordant alopecia congenita on monozygotic twins and that the term congenital alopecia might be very well be changed into hereditary alopecia.
Eineiige Zwillinge mit dominanter Innenohrschwerhörigkeit
Authors: Duis von B. T. , Eickhoff H. 
Published: July 2016

SUMMARY1. We discuss previous casuistic reports published until now on twins suffering from hereditary deafness of the dominant type.2. One case of hereditary deafness in a pair of monozygotic twins is reported, the twins showing no considerable difference in their acustical defect.Prove that deafness in this case was conditioned by heredity and did not arise from an explosion, is given by the mono-zygozity of the patients.3. It is imperative that each case of questioned hereditary deafness described above should be controlled by audiometric test.
La dysostose mandibulo-faciale (Franceschetti) a propos d'une obsèrvation familiale
Authors: Schachter M. 
Published: July 2016

SUMMARYThe a gives a general survey of the cardinal signs of the dysostosis mandibulo-facialis described, 1944, by A. Franceschetti and P. Zwahlen, and mention the 11 familial types of this clinical picture. He adds his 12th family where the father and two children are afflicted with the same dysmorphosis of the mandibulofacial type.A comparative of the show the malformations of the thre members of this family. The diagnosis dith the new type of dysostosis described by Ullrich and Fremery-Dohna is also mentionned.
Changes in twin frequencies
Authors: McArthur Norma 
Published: July 2016

SummaryThe statistics of twin births in Australia and Italy were examined and the frequencies within the two countries at different periods of time compared. There has been an increase in monovular twin frequencies in Australia over a period of 25 years in spite of an increasingly higher proportion of first maternities amongst total maternities and generally lower maternal age. The cause of the increase could not be ascertained because of insufficient information. The decrease in gross frequency which occurred in Italy was found to derive from the smaller number of maternities to women of high parity in recent years. The frequency of twin births to women of corresponding age and parity remained unaltered and differed only slightly from comparable groups of Australian women.
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

SUMMARYI. 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.
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.
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.
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.
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.