bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gozzo con Ipotiroidismo dovuto a Difetto Familiare di Desiodazione delle Iodotirosine
Authors: Bigozzi U. , Bigazzi M. , Guazzelli R. , Melani F. 
Published: July 2016

SUMMARYThe Authors describe the case of juvenile hypothyroidism with goiter caused by a congenital defect in the synthesis of the thyroid hormones. The picture of thyroid uptake curve, cromatographic separation of thyroid hormones in serum and of thyroid gland tissue, and the PBI concentration, suggest to include the case among the iodothyrosine dehalogenase defects. Such a defect, though very attenuate, has been found in the patient's mother too. From a genetic point of view, Authors suggest to consider both cases heterozygous expression of the defect; though in the daugther this defect is more accentuate.
Cytogenetic Study of Otosclerosis
Authors: François J. , Leuven M. T. Matton-Van , Kluyskens P. 
Published: July 2016

SummaryChromosomal evaluation was done in 62 patients affected with otosclerosis, clinically and surgically proven. Numerical and structural karyotype analysis of leucocyte and fibroblast cultures, showed normal results.Cytogenetic findings published earlier by other authors in a small series of otosclerosis patients and where mosaicism in the D-group was detected, are contradicted.The importance of the critical evaluation of the cytogenetic method used and of the necessity to investigate cytogenetically a large enough number of patients, before linking a clinical and phenotypical condition to cytogenetic finding, is stressed.
Somatic Variability in South Goalpara, Assam
Authors: Das Bhuban M. 
Published: July 2016

SummaryThe present author found significant differences in physical characters among some populations, namely the Garo, the Kachari, the Rabha and the Rajbansi of South Goalpara, Assam. They were accompanied by an increase and decrease of the various characters. Shapiro in his study of Japanese immigrants into Hawaii also found similar phenomenon of increase and decrease in respect of anthropometric characters. In this study the data of the present author have been compared with those of Shapiro.It is seen that the results obtained by the present author agree with those of Shapiro in respect of some characters, while in respect of some they vary. But it appears that the changes in physical characters due to migration into two widely different geographical regions — from a temperate country like Japan to a tropical country like Hawaii — are nearly of similar nature in a small area like South Goalpara.
Malformations Extracardiaques Associées à des Cardiopathies Congénitales (Etude statistique portant sur 1000 cas)
Authors: Emerit I. , Vernant P. , Corone P. , de Grouchy J. 
Published: July 2016

SUMMARYThe authors have studied the frequency and nature of associated malformations in a series of 1000 patients with congenital heart disease. Etiological factors have been statistically analyzed, too.
Ehlers-Danlos syndrome
Authors: Capotorti L. , Antonelli M. 
Published: July 2016

SUMMARYThe Authors describe a pedigree including four certain and two probable cases of «Ehlers-Danlos syndrome ». All the affected subjects were born to consanguineous but apparently healthy parents. Of the three main symptoms of the syndrome, the patients presented hyperelasticity of the skin and hyperlaxity of the joints and of the ligaments, while the signs of cutaneous fragility were absent (« partial form » of E.-D. syndrome). In the first two cases it was possible to find some less common aspects of the E.-D. syndrome, such as ectasia of the trachea and of the main bronchi, anomalies regarding the eyes, the teeth and the nails, muscular hypotonia and hypotrophia, and particularly some skeletal manifestations (bending of the long bones, osteoporosis, anomalies of the methaphysis and epiphysis of the tubular bones, vertebral, thoracic and pelvic deformations).The Authors emphasize the importance of these less common aspects of the E.-D. syndrome, and the similarity between these clinical signs and those found in other « heritable disorders of the connective tissue ».The type of inheritance in this family (autosomal recessive) is discussed, in comparison to the commoner type (autosomal dominant) of inheritance of the E.-D. syndrome.
Concordance in a Twin Population Model
Authors: Selvin Steve 
Published: July 2016

SummaryA twin population model is proposed, and two different definitions of the rate of concordance are investigated within the context of this model. It is found that the statistic formed from the ratio of the number of affected twins that come from concordant pairs to all affected twins has certain advantages over the traditional definition of the rate of concordance. This twin population model is extended to nontruncated sample of twins. The parameters of this situation are estimated. Finally, it is shown how these parameters relate to the two usual estimates of the proportion of DZ. twins in a twin population, and the efficiency of these methods is computed.
Nuova Valutazione Quantitativa dei Dermatoglifi Palmari
Authors: Alciati Giancarlo 
Published: July 2016

SUMMARYThe new quantitative evaluation of palmar dermatoglyphics is a radical modification of the metric method already proposed by the A. (1961). The change makes it extremely simple to apply, and it is not at all liable to varying interpretations from one scientist to another. This modification consists in plotting the circumference passing through the three nonaligned points represented by the triradii a, b, d (c has been intentionally excluded, for it is often absent or merely rudimentary). The end of each main line may thus be expressed by the angle at the centre measured (in an anti-clockwise direction for right hands and vice versa for left hands) from the triradius a to the point of intersection between the main line under study and the circumference plotted as described.The coefficient r of correlation has been calculated in parent-parent, father-child, mother-child and sib-sib pairs, for the ends of line A and for those of line D expressed as above, and also for a number of other metric features resulting from the construction of the circumference. Very small nonsignificant values of r have been found in the case of the parent-parent pairs; in the other cases, on the contrary, the r values were as a rule statistically significant, showing the heritability of the features in question.
Dermatoglyphics in the Hallucal Area of the Sole A Mother/Child Correlation
Authors: Brismar Bo 
Published: July 2016

SummaryThe author has systematized the hallucal dermatoglyphics in accordance with the pattern direction in whorl, longitudinal, transverse, and open-field patterns Neither sex difference nor any difference between the right/left foot could be demonstrated. A correlation with χ2-distribution mother/child gave for:1. longitudinal/transverse pattern χ2=49.0;2. longitudinal/whorl pattern χ2=12.3;3. transverse/whorl pattern χ2=6.3.
Studio della Coagulazione normale del Sangue nei Gemelli con il Metodo tromboelastografico
Authors: Gedda L. , Poggi D. 
Published: July 2016

SUMMARYIn the course of a research work based on the study of the thrombelastogram in 20 male and 20 female MZ pairs, and in 20 male and 20 female DZ pairs, the Authors have evaluated the genetic impact on the thrombelastographic traits. The analysis of the experimental data shows that the following data are especially genetically influenced:1) the maximum width (¾)2) the elasticity modulus ()3) the time r (½)4) the thrombelastographic index (½)
The Occurrences of symmetrical and asymmetrical Terminations of Main Line D, C, B and A in Mohammedans of Rajasthan
Authors: Kumbnani Harkishin 
Published: July 2016

SUMMARYThe occurrence of symmetrical and asymmetrical combinations of termination of the palmar main lines has been studied. Symmetrical combinations are of the same type, while asymmetrical ones are of different types. Actual frequencies (AF) and chance frequencies (CF) of various combinations have been calculated.1) Though various symmetrical combinations are found on palmar main line D, combinations 11/11 exhibits a higher frequency in both sexes. Similarly, palmar main line C shows a higher frequency of combination 9/9 in both sexes. Palmar main line B is remarkable for the absence of combination 3/3, while combination 7/7 is the most common. Palmar main line A is also remarkable for the absence of combination 1/1, while the most common combination found is 3/3.2) The higher value of the AF-CF ratio shows a greater tendency to symmetrical combinations.3) A strong tendency of repulsion is observed on the part of symmetrical combinations.4) Chance frequencies (CF) can be calculated provided that the termination frequencies of various palmar main lines are known.5) The value of AF-CF ratio is inversely proportional to the value of chance frequency (CF).6) In all symmetrical and asymmetrical combinations examined with the ‘t’ test no statistical significance has been found in either sex.
Suggested two-fold Groupings of Main Lines D, C, B, A Terminations and Locations of axial Triradius
Authors: Sharma Abhimanyu 
Published: July 2016

SUMMARYUsing Bansal & Rife's recent study (1962) as a working model, certain two-fold groupings of four palmar main lines and the axial triradii positioning have been proposed on the basis of the writer's unpublished work (1962). Some fairly encouraging penetrance figures suggest to apply the same groupings on twin data, on largest and richer family material drawn from the same Mendelian population, and to use other available methods of penetrance calculus, including one from concordance figures that is under investigation by the author.
La Gangrena asettica della Teca cranica come Aplasia circoscritta ereditaria del Neonato
Authors: Gedda L. , Muratore A. , Bernardi A. 
Published: July 2016

SUMMARYThe reported cases of aseptic gangrene of the skull in a brother and his sister, induce the Authores to reexamine the present theories on the etiopathogenesis of primitive gangrene of the newborn and to put forth the hypothesis of a hereditary etiology. The Authors stress the consanguinity of the parents and interpeter the case as a localised skull aplasia probably inherited with a recessive monomeric hereditary mechanism.
Comportamento della ossificazione nei gemelli nel periodo neonatale
Authors: Bergamaschi P. , Coucourde F. 
Published: July 2016

SUMMARYSkeleton X-rays of 27 twin — pairs (12 monochorial and 15 bichorial) have been examined. Differences in osseous development between the two fetuses are not relevant, but may be found with the same frequency both in omologous and heterologous pairs. The Authors finally discuss the factors (which may be different, according to the type of twin pregnancy) possibly producing variations in the skeletal apparatus.
Finalità e compiti della Genetica Medica. Prolusione ai corsi della nuova Cattedra Universitaria della Facoltà di medicina e chirurgia dell'Università di Roma
Authors: Gedda Luigi 
Published: July 2016

SUMMARYOn the occasion of the inauguration of the courses of Medical Genetics in the Italian Universities, the Author describes how this new branch of science has developed in other countries, shows the limits of its action, in the sense that it aims to integrating clinical medicine and not to substituting it. Finally, the Author indicates how Medical Genetics has to develop from both scientific and professional standpoints.
Twin data on hand clasping: a reanalysis
Authors: Freire-Maia Ademar 
Published: July 2016

Individuals can be classified into two categories, according to the way of per forming hand clasping: R type, when the fingers of the right hand occupies the uppermost position (sec fig. in Rothschild, 1930), and L type, when the opposite situation occurs (see fig. in Winchester, 1958). Each person has his peculiar way of clasping his hands, and it is believed that the type persists unchanged throughout the whole life. The reason why some persons clasp the hands with the fingers occupying one position, and not the other, is as yet unknown. This fact cannot be explained by relatively large differences in the shape and proportions of the bones of the hand, since it has been shown that a close over-all similarity between them exists (Greulich, 1960). We suggest, however, that even the small differences detected can explain the situation.Dahlberg (1926), based on twin and populational data, concluded that “there is hardly reason to presume heredity” in the genesis of the trait. His data can be explained well on the basis of a chance distribution, but this hypothesis can not account for the extensive amount of family data (Lutz, 1908; Yamaura, 1940; Kawabe, 1949; Yoshiwara, 1957; and Freire-Maia, Quelce-Salgado and Freire-Maia, 1958), as well as for the large amount of populational data (see Freire-Maia et al. 1958; Yoshiwara, 1957 ; Freire-Maia, 1961), and the ethnic, sex, and age differences detected (see Freire-Maia et al. 1958). Although all those authors presented strong evidences of a genetic component on the genesis of the trait, no simple Mendelian mechanism could explain the data, however.
Morbo di Cooley in gemelli uniovulari. Descrizione di un caso e osservazioni
Authors: Lucci R. , Soffritti E. , Borgatti L. 
Published: July 2016

SUMMARYAfter a short review of the literature on the subject, the Authors report a personal observation of Cooley's disease in uniovular twins adding some general observations. They conclude by stressing the rarity of this observation.
Die Homosexualität als genetisches Problem
Authors: Lang Theo 
Published: July 2016

Vor vierzehn Jahren konnte ich (1) in dieser Zeitschrift zusammenfassend über «Erbbiologische Untersuchungen über die Entstehung der Homosexualität» berichten. Wenn ich nunmehr nochmals auf diese Untersuchungen, die in der Zwischenzeit durch die Berechnung von möglichen Valenzen der geschlechtsbestimmenden Faktoren bei Homosexuellen und deren Eltern ergänzt wurden zurückkomme, so liegt die letzte unmittelbare Veranlassung darin, dass neuere cytologische Untersuchungen prinzipiell die Prämissen, von denen ich bei meinen Untersuchungen ausgegangen bin, bestätigten. Beim derzeitigen Ueberwiegen der psychologischen Literatur auf dem Gebiet der Homosexualitätsforschung schien es dazu schon an und für sich angezeigt, das Problem der Triebumkehr mit Fragen und Ergebnissen der Genetik und Erbbiologie darzustellen.Die Untersuchungen, die von mir, nachdem sie schon einige Jahre geplant waren, im Jahre 1934 begonnen wurden, nahmen ihren Ausgang von folgenden Ueberle-gungen. Die Homosexualität ist eine ubiquitäre, bei allen Völkern, zu allen Zeiten und in allen Kulturkreisen auftretende Erscheinung, weshalb auch die meisten führenden Psychiater und Sexualforscheres sei nur an E. Kraepelin, A. Forel, E. Bleuler und R. von Krafft-Ebing erinnert stets neben den exogen bedingten Formen von Homosexualität eine Kerngruppe von genuiner, anlagebedingter Triebumkehr annahmen. Wir können also ihre Erklärung mindestens mit derselben Wahrscheinlichkeit wie in psychischen Faktoren in den ebenfalls ubiquitären physiologischen oder pathophysiologischen Vorgängen, die die Anziehung oder Abstossung der Geschlechter bedingen, suchen.
Cytogenetische Untersuchungen zur Frage Jahreszeitlicher Schwankung der Spontanen Chromosomenaberrationsrate Beim Menschen
Authors: Deininger B.R. , Rott H.-D. 
Published: July 2016

SummaryMonthly chromosomal analyses have been carried out, from December 1971 to November 1972, on 4 male subjects aged 22 to 32. Over a total of 4 710 mitoses examined, the rate of aberrant cells (including gaps) was of 9.1% and there was no difference among individual yearly mean values. The average mitotic index, evaluated on 48 cultures, was of approximately 55‰. Significant differences (P < 0.025) have been found among individual yearly mean values (40-69‰). No seasonal increase of aberrations has been found; however, 12 of the 16 tetraploid cells were found in the winter months. In all subjects, the mitotic index reached its maximum in April-June (P < 0.001). The mitotic index and the percentage of aberrant cells were not shown to be correlated.
A Study on the “First Memory”
Authors: Gedda Luigi 
Published: July 2016

SummaryThe phenomenon of the so-called first memory has been studied in a sample of 350 pupils of an elementary school, 98 female university students, and 68 twin pairs of different age and zygosity.In the average, the first memory refers to the 3rd-4th year of life, with a tendency to move forwards in relation to the age of the subject. This may be interpreted in terms of an unconscious selection operated by the memory, preferring more detailed memories and therefore producing the loss of undetermined and vague ones. Moreover, an unconscious tendency is also shown towards the recollection of pleasant memories. The first memory may be considered as a particular example of long-term memory.The twin study shows that the hereditary conditioning of the phenomenon corresponds to 47%.
Sweat Electrolytes as a Clinical and Genetic Test in Mucoviscidosis. Study of Variability and Genetic Conditioning
Authors: Del Porto Giuseppe , Di Tonto Barbara 
Published: July 2016

SummaryAiming at a better clinical and genetic utilization of the sweat test in mucoviscidosis, the authors have carried out an evaluation of the variability and the genetic conditioning of the level of Na+and Cl−electrolytes in human sweat.
The Distribution of Blood Genetic Markers in Immigrant Chinese Populations
Authors: Hawkins B. R. 
Published: July 2016

SummaryThe current data on the distribution of blood genetic markers in Chinese populations outside China have been reviewed and summarised. The Chinese were found to exhibit varying degrees of heterogeneity in some of the marker systems, and attempts have been made, where appropriate, to relate this heterogeneity to the diverse backgrounds in China of the populations studied.
Morbo di Addison familiare (Iposurrenalismo cronico « parzialmente compensato » insorto in padre e figlio dopo l'influenza asiatica)
Authors: Toccafondi R. , Borghi A. 
Published: July 2016

SUMMARYTwo familial cases (father and son) of Addison disease, occurred after « asian influenza », are reported.Clinical data suggest tat the pathological basis for adrenal insufficiency could be the so-called « simple fibrosclerosis » and that virus infection has acted as a precipitating factor of an underlying adrenal meyopragy, since both patients as well as other members of the same familyi have a hyperpigmentated skin.The two patients have shown a Addison syndrome « partially compensate » with incomplete symptomatology for lack of functional adrenal reserve which has been detected only by ACTH stimulation (which was inefficient).As far as we know, this is the first report of a chronic hypercorticalism occurred in the father and one of his sons.
Osservazioni e ricerche sull'azione dell'insulina sugli embrioni di ratte gravide con microfotografie
Authors: Scaglione Salvatore 
Published: July 2016

SUMMARYAfter having examined the literature on the subject, the Author explains his research study, according to which insulin treatment in pregnant rats, during the first months of pregnancy, has given rise to fetal alterations in the fourth ventricle and the spinal cord. Accordingly, it could be possible that fetal malformations in diabetic women are somehow related to irrational treatments of insulin.
Indagini genetico-statistiche sulle fratrie di 432 soggetti mongoloidi
Authors: Beolchini P. E. , Bariatti A. Bencini , Morganti G. 
Published: July 2016

SUMMARYA statistical analysis has been made on the clinico-anamnestic information concerning 432 mongol propositi, taking into particular consideration the age of parents, the order of birth and the reproductive features observed in the families of the propositi. The Authors furthermore examine the possibility of making an eugenical counseling concerning the probability of a new occurrence of the syndrome.
Sports and Genetics. A Study on Twins (351 pairs)
Authors: Gedda L. 
Published: July 2016

SUMMARYAfter elaborating the data supplied by 351 questionnaires of a survey addressed to 1,241 twin-pairs, the Author shows differences in the behavior of MZ and DZ twin-pairs as to the sports phenomenon. By a first criterium of analysis, relative to sports practice in general, intra-pair dissimilarity is found to correspond to 6% in the case of MZ and to 85% in the case of DZ twin pairs. A second criterium of analysis concerned the kind of sport practiced by pairs concordant as to sports practice in general: the observed concordance as to the kind of sport practiced was more frequent in MZ then in DZ twin-pairs. By a third criterium concerning individual role and performance, the Author has been able to demonstrate that the distribution of DZ pairs, as to concordance, follows opposite patterns than that of MZ pairs. The Author concludes that sports activity, besides exogenous influences, (social environment, training, economic level etc.) is certainly also conditioned by genotypic, hereditary factors.
The Detection of Carriers in Hereditary Myoclonic Epilepsy
Authors: Sarlin M. Bruce , Kloepfer H. Warner , Mickle Walter A. , Heath Robert G. 
Published: July 2016

SummaryThree cases of hereditary myoclonic epilepsy have been observed among ten siblings in a Negro family. Electroencephalograms of the parents, three normal siblings and two of the three affected siblings have been recorded and all show abnormalities of a similar type. These are of a generalized nature revealing no focal damage. This type of abnormality has been observed in an affected male and two normal siblings by Watson and Denny-Brown.The autosomal recessive mode of inheritance observed in the present study is consistent with the transmission most frequently reported in myoclonic epilepsy. We believe that abnormal electroencephalographic patterns are associated with this gene and that these patterns may be useful in the detection of heterozygous carriers.
Biemond-Syndrom in einer Sippe mit Iriskolobomen, Hüftgelenksdysplasie und Epilepsie
Authors: Grebe von Hans 
Published: July 2016

SUMMARYThe Author reports on the striking frequency of marked hereditary pathologic anomalies in the family of a proposita suffering from Biemond's Syndrome (diencephalic obesity, debility, neurologic and mental disorders, endocrine troubles, syndactyly of the feet and bilateral coloboma of the iris).In the 173 membres of the family (non including the proposita) the Author found 17 cases of unilateral or bilateral coloboma (6 of whom died blind), 4 cases of iris malformation with atrophy of the stroma, 4 cases of females with serious unilateral or bilateral malformation of the hip-joint, 1 uncertain case of a male with Perthes disease, 4 cases of epilepsy (included a concordant MZ twin-pair), 1 case of a male suffering at the same time from imbecility and underdevelopment, 1 case of a female affected by coloboma, arachnoidal cyst and epileptic convulsions, and, further, some cases of myopia, single cases of strabismus, hyphoscoliosis, lipomatosis, hemolytic icterus and 1 case of a still-born child with atresia recti and hypoplasia of one arm. Besides a case of suicide, some members of the family are supposed to have been somehow « queer ».It is probable that a degree of linkage exists between the genes for coloboma and epilepsy. All other findings, for the moment, may only be recorded. In order to reach some final conclusions other family studies will have to be added to the present one.
Poliomielite anteriore acuta in cinque coppie di gemelli
Authors: Marioni R. , Gionta D. 
Published: July 2016

SUMMARYThe Authors have reported five twin-pairs, two of which DZ and three MZ, all affected by poliomyelitic paralysis, affirming the existence of a particular predisposition to this disease and even of a local predisposition in MZ pairs.