bluuebunny/crossref_metadata_2025 huggingface dataset:
Stein-Leventhal Syndrome in Sisters — The Possible Role of Genetic Factors in the “Polycystic Ovary Syndrome”
Authors: Borghi A. , Maiello M. , Giusti G.
Published: July 2016

Two pairs of sisters are reported who showed clinical, morphologic, and hormone abnormalities, such as to be classified in the picture of the so-called Stein-Leventhal syndrome.

These cases, as other few similar observations, may suggest the possibility that, at least in some instances, the Stein-Leventhal syndrome can be governed by factors of a genetic order.

After a short review of the literature on this subject, it is pointed out that enough evidence supports the existence of predisposing genetic factors to the manifestation of the syndrome, although a true heredity of the disease cannot at the moment be entirely supported. Also some fraternal cases could find an explanation in lesional actions repeated during subsequent pregnancies.
La Genetica del Diabete
Authors: Gedda L. , Casa D. , Brenci G.
Published: July 2016

The introduction of informatics in the study of hereditary diseases, i.e., the birth of informatic medical genetics, marks a turning point in the history of medicine.

The biological informatics is the product of molecular genetics on one hand, and cybernetics on the other. The former has brought the study of the hereditary phenomena to the level of nucleic acids; while the latter, originally devised to the service of automation, reflects a number of fundamental biological phenomena, also at the molecular level.

The informatics of hereditary diseases is referred to a damage of the operative units acting to secure the development and homeostasis of the organism. The mechanistic conception of the damage is complemented by the energetic and chronologic concept.

On such foundations a modern conception of the genetics of diabetes is thus formulated. The clinical inadequacy of the static genealogical model is stressed, and the introduction of a dynamic model is suggested, taking into account the gradual chronological extinction of the normoglycemic genotype.
A Note on Parent-Offspring Correlation and Inbreeding
Authors: Chakraborty Ranajit
Published: July 2016

For a diallelic autosomal character, the correlation between parental total score and offspring total score (known as the parent-offspring correlation) given by + √{s(1 + 3F)/[(s+ 1) +F(3s− 1)]}, is used here to estimateF, the constant which is commonly interpreted as coefficient of inbreeding. When the family records include varying number of children, a reasonably good estimate ofFis exhibited which agrees fairly with other available estimates.
Aneusomy by Recombination:A possible example involving the E18 chromosome
Authors: Bartalos M. , Richardson H. B.
Published: July 2016

A 5 year old female child is described with mental and growth retardation, prominent occiput, low-set ears, moderate mid-face hypoplasia, congenital heart defect, mal-set toes, and a relatively high frequency of whorls on the fingers. The abnormal E18 chromosome found is thought to represent a partial deletion of the long arm with trisomy for a small terminal segment of the short arm as the result of a pericentric shift followed by crossing-over within the inverted shifted segment. Thus this case may represent a further example of “aneusomy by recombination”.
Malformative Syndrome with Cryptophthalmos
Authors: François J. , Leuven M. Th. Matton-Van , Rouck A. De , Hanssens M. , Coppieters R. , Biet S. De
Published: July 2016

The malformative syndrome with cryptophthalmos is characterized by cryptophthalmos or congenital symblepharon of the upper lid, dyscephalia with malformations of the ears, nose and mouth, syndactylia, malformations of the urogenital organs and other less constant anomalies.
Chromosomal Aneuploidy, Mosaicism and Eugenics
Authors: Zellweger H.
Published: July 2016

Chromosomal aneuploidy in individuals is very frequent, and is generally a sporadic occurrence. Some aneuploidies seem to be familial, however; that is, parents may have more than one aneuploid child, or they may come from families in which an agglomeration of aneuploidies is distributed over several generations. Since, in such instances, parents often seek eugenic counsel to learn their chances of having aneuploid children, four types of familial aneuploidy and their recurrence risks are described. Special emphasis is given to the more important types of familial interchange, for which the recurrence risks can be calculated with fair accuracy. Familial mosaicism, a rare and puzzling genetic entity with which aneuploidy seems definitely correlated, is discussed.
Brachydactyly and Pseudo-Pseudohypoparathyroidism
Authors: Hertzog Keith P.
Published: July 2016

Shortened fifth middle phalanges, defined as being less than half the length of the fourth middle phalanx, were found in 12 of 96 Philadelphia Chinese and none of 200 Philadelphia Negro children. At least nine of these can be characterized as having stunted cratered diaphyses, with precocious cone epiphyses, which underwent very early epiphyseal union.

The possible extension of a current vascular hypothesis for cone epiphyses, to include inherited osseous variation in this region of the little finger, is discussed.

A classification of metacarpal brachydactyly is presented, with the intention of investigating the syndrome of pseudopseudohypoparathyroidism. Reports of cases which have been held to negate the theory that Albright's hereditary osteodystrophy is sex linked were found to have the pattern of phalangeal shortening exhibited by one of the forms of metacarpal brachydactyly. This finding lends support to the contention of others that these reported cases are not pseudo-pseudohypoparathyroidism.
Electroencephalographic Findings in MZ Twin Pairs, Discordant for Closed Head Injury
Authors: Sulg Ilmar A. , Dencker Sven J.
Published: July 2016

A follow-up EEG study in 28 cases with closed head injuries, using MZ co-twins as controls, is described. A new concept in EEG analysis is introduced. A combined EEG code and point scale are more effective in discriminating subtle differences between two EEG records. A high concordance was found whether the EEG showed normal or abnormal patterns. Not only the head-injured twins but also the controls showed more abnormalities than in the normal population. Without this check by co-twins the EEG abnormalities could have been taken for persisting signs of the proband injury. It was found, however, in late follow-up that proband twins showed more EEG aberrations and abnormalities than co-twins, but the probands differed already in pre-traumatic mental make-up from their genetically identical controls. Neither differences in mental make-up nor in EEG characteristics showed any statistically significant correlation with the severity of the proband injury. These observations limit the significance of EEG abnormalities in late concussional states.

This study also indicates that there are individually specific EEG patterns, which in health retain their characteristics throughout life. The EEG pattern is therefore concordant in identical twins. Thus, when a twin is influenced by a brain disease or lesion, the co-twin may serve as a biological control in both acute and follow-up studies.
Gozzo con Ipotiroidismo dovuto a Difetto Familiare di Desiodazione delle Iodotirosine
Authors: Bigozzi U. , Bigazzi M. , Guazzelli R. , Melani F.
Published: July 2016

The 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

Chromosomal 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

The 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

The 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

The 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

A 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

The 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

The 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

In 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

The 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

Using 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

The 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

Skeleton 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

On 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.
La malattia di Niemann-Pick Descrizione di un caso
Authors: Gullo Antonio
Published: July 2016

A case of Niemann-Pick disease is reported. This is the fourth described in Italian literature and diagnosed during life. In this case hereditary transmission in homozigous individual is admitted; it is uncertain whether the character behaves as semidominant or recessive.
Morbo di Cooley in gemelli uniovulari. Descrizione di un caso e osservazioni
Authors: Lucci R. , Soffritti E. , Borgatti L.
Published: July 2016

After 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

Monthly 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

The 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

Aiming 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

The 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.
Su di un caso familiare di persistenza della membrana pupillare
Authors: Lumbroso B. D. , Scullica L.
Published: July 2016

A case of persistent pupillary membrane observed in a mother and in her two monozygotic female twins is reported. The literature on this subject is reviewed.
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

Two 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

After 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

A 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

After 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.
Dysostosis mandibulo-facialis (Franceschetti-Zwahlen) in four generations
Authors: Wildervanck L. S.
Published: July 2016

Description of a family five members of which, in four generations show the syndrome mentioned in the title. The mode of inheritance is dominant, with a rather strong penetrance and a great variability in the expressivity. The importance of genetic counseling is stressed.
The Detection of Carriers in Hereditary Myoclonic Epilepsy
Authors: Sarlin M. Bruce , Kloepfer H. Warner , Mickle Walter A. , Heath Robert G.
Published: July 2016

Three 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

The 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

The 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.
Mongoloide Idiotie bei Mutter und zwei Kindern aus Inzesten
Authors: Hanhart von Ernst
Published: July 2016

A mongoloid girl with low-grade idiocy, the 10th of 12 children out of a very poor herds-mans' family in an isolate prealpine place of western Switzerland, was examined at the age of 28. Her mother is recovered on account of schizophrenia (catatonia tarda) as 4 of her (the probands) are feebleminded brothers.

At 21 and 23 years of age the mongoloid proband gave birth to a mongoloid daughter and a mongoloid son; while the latter died of bronchopneumonia when 17 months old — the diagnosis of his mongolism having been ascertained by a pediatrician the first was seen by the author at age 7. The mongolism of mother and daughter is shown by several photographs and by palm and sole prints.

The father of the 2 mongoloid children is most probably the probands' next old brother, a non mongoloid, but highly imbecille.
Muscular Dystrophy in Three Pairs of Twins
Authors: Soltan Hubert C.
Published: July 2016

Three pairs of male twins concordant for muscular dystrophy are presented. Two of these pairs are shown to be monozygotic and affected with the Duchenne form of muscular dystrophy. The third pair is probably dizygotic. The clinical and genetical features of each pair of twins are discussed. Pedigrees with photographs of the twins are presented.
Risultati delle nostre osservazioni sulla Drepanocitosi e Thalassodrepanocitosi
Authors: Gatto I. , Russo G.
Published: July 2016

The Authors studied 60 individuals bearing a positive test of sickle shaped cells (40 healthy bearers and 20 sick people).

Drepanocytosis besides causing a Splenomegalic haemolitic disease in an homozygous state can also cause it in pure heterozygous individuals of high expressivity. Thalassodrepanocytosis due to a more frequent occurrence of thalassemia is found with a greater occurrence than sickle cell anaemia in Sicily.

A patient showed a Salmonella osteomyelitis and two more a syndrome of acute abdomen due to a splenic occlusion.

The study of myelograms showed in all the patients (drepanocytosis, thalassodrepanocytosis) a clear erythroblast hyperplasia.

A cytometric study of the different aspects of the erythron was carried out.

The study of Hb composition made through paper electrophoresis and the amount of alkali resistent Hb showed in the patients bearing sickle cell anaemia the presence of a unique band with the speed of Hb S and the coexistence of different amounts of Hb Ar (normal values to 33,6%observed in a pure etherozygous). Quantities of Hb Ar above the norm where always observed in thalassodrepanocytosis, but the electrophoretic finding, due to the coexistence of Hb A, ran from the shaded unique band to two distinct bands.
A study of familial aspects of human urinary amino acid excretory patterns utilizing paper chromatography
Authors: Kaplan Arnold R.
Published: July 2016

A method for the preliminary analysis of a maximal number of urinary amino acids has been devised, which is based on preliminary ‘purification’ and desalting of each specimen prior to its subjection to two-dimensional paper chromatography. Aliquots of processed and concentrated specimens are standardized to quantities of alpha-amino acid nitrogen as determined colorimetrically.

Densitometric index values were analyzed for sex differences and for intrapair differences comparing genetically related and unrelated pairs. Significant sex differences were observed for five substances. Significant deviations between intrapair differences of genetically-related and control pairs were observed for ten substances. The results are compatible with the hypothesis that quantitative differences in the respective excretions involve genetic factors.
Problemi di Genetica Oculistica: IV. Ptosi con blefarofimosi congenita ereditaria
Authors: Gedda Luigi , Bérard-Magistretti Sandra
Published: July 2016

The Authors report on 10 subjects of the same family affected by a malformation of the ocular region, which may be classified in the group of the ptoses with blepharophimosis. These symptoms, always present, were variably accompanied by other malformations (dislocatio lateroversa canthi medialis, duplicity of the lower lacrimal points, « elongatio » of the lower canaliculi, limitation of the superior recti, synophrys, hypoplasia of the iris, of the caruncle, of the plica semilunaris and of the tarsus). The existence of a hereditary congenital malformation, which may be called «ptosis with blepharophimosis », is confirmed. In the cases reported this is probably transmitted by a dominance trait.
The Co-Brother Method in Clinical Genetics: Tuberculosis Research
Authors: Gedda Luigi , Volta Sandro
Published: July 2016

The genetic aspect of tubercular diseases has been studied for a long time, using the genealogical method, which had forerunners even in the field of narrative, where some Authors, such as Emile Zola, described families in which there was a high frequency of tuberculosis. Then, many Authors gave scientific descriptions of genealogical trees largely stricken by this disease, demonstrating the necessity of stating this problem: Although tuberculosis is originated by a microbe, it can also derive from a particularly receptive, inherited ground. The statistical research, in the hands of Person, Govaerts, Pearl, Ickert and Benze, Geissler and others, indicated that the question was legitimate and that the answer must be positive, because the probability of being affected by tuberculosis is four times higher when the parents, instead of being healthy, both have the disease; because among the ascendants of tuberculous people one finds six times more affected individuals than among those of healthy subjects; and for other similar reasons.

Then, the twin method, used by v. Verschuer, Diehl and Mittschrich, Kallmann and Reisner, by Heilinger and Kunsch, by Vaccarezza and Dutrey, by Kallmann and Jarvik and by others, emphasized the hereditary factor in tubercular diseases.
Ricerche sulla familiarità del carcinoma ovarico
Authors: Soini A. , Serra A.
Published: July 2016

The Autors have begun a genetic research on the ovarian cancer. In this first part of the work:

1. it has been defined the group of the “ primary cases ” in which have been included 74 cases of solid carcinoma, 108 cases of cystic carcinoma and 93 cases of unclassified malignant tumor of the ovary.

2. it has been studied the age of appearance and the age incidence variation of the ovarian cancer, and it has been found that:

a) the mean age of appearance is 51,15 ± 0,64 years, but it lowers to 48,94 ± 0,68 years for the solid carcinoma and rises to 52,36 ± 0,90 years for the cystic carcinoma;

b) the period of the greatest frequency of the disease is between 40-60 years of age, followed by a sharp decrease over age 65;

3. it has been analysed the fertility of the patients, and it has ben recorded a decrease of the mean fertility up to 29% as compared to the general population;

4. it has been mentioned the importance of the hormonal factor as a problable condition for the development of the ovarian cancer, that nevertheless calls for other — likely idiotypic — factors.
Nuove Osservazioni di Torcicollo osseo in Gemelli monozigotici e in Fratelli mononati
Authors: Gedda Luigi , Iannaccone Guido , Alfieri Alfonso
Published: July 2016

The Authors describe a pair of male twins, aged 17, with concordant congenital clockwise torticollis, and two single-born sibs, one male aged 15 and one female aged 17, with concordant congenital counter clockwise torticollis. X rays show that in these cases the organic basis of torticollis is the wedgelike deformation of one or two cervical vertebrae. Other bone malformation are observed in the spines of the propositi and in the twins' mother.

The Authors describe a pair of male twins, aged 17, with concordant congenital clockwise torticollis, and two single-born sibs, one male aged 15 and one female aged 17, with concordant congenital counter clockwise torticollis. X rays show that in these cases the organic basis of torticollis is the wedgelike deformation of one or two cervical vertebrae.

The Authors believe that congenital osseous torticollis is part of a hereditary malformation of the axial skeleton; this malformation may be of two types, one “dysmorphic” (as the cases here described) and one “schisosynostotic” as in the twin case described by Gedda and Iannaccone in 1957.
Das Zwillingsproblem in der Psychiatrie
Authors: Stern Arthur
Published: July 2016

The prevalence of psychological tendencies in psychiatry and the scarceness of material in our small country have resulted in a certain neglect of the problem of twin studies (as part of the theory of constitution and genetics). Uni-ovular twins - meaning identical in their heredity, monozygotes - enable us to reach important conclusions regarding the influence of constitution on, and the hereditary character of psychiatric diseases. Apart from observations at birth, uni-ovularity is proved by the method of similarities in physical and psychological Traits, esp. finger-prints, blood groups, and handwritings; recently another proof has been found in the electro-encephalogramm (EEG) which is identical in uni-ovulars. Bi-ovular or non-identical twins (dizygotes) have every mark of siblings, e.g. the statistical percentage concerning the hereditary character of certain illness, which percentage is much smaller than with uni-ovular. The cases of five pars of identical twins are presently recorded: two pairs in detailed observation by the writer, three pairs which have been referred to me by the kindness of several institutions in this country. (It is by chance only that all these pairs are female). Of these five observations, four concordant uni-ovular twins belong to the schizophrenic form, one to the maniac-depressive.

The history and literature regarding this trend of studies are referred to at some length, esp. the findings on criminal twins (Johannes Lange et al.) and the exhaustive material of F. J. Kallmann, New York, which latter did observe 953 pairs of schizophrenics, 75 pairs of maniac-depressives, 96 involution psychoses, etc. These studies and those by other authors show a concordance - meaning appearance of the same illness in both twins -of nearly 100% in maniac-depressives, and of up to 86% in schizophrenics. The limited discordance in schizophrenia is dealt with and explained by factors other than environmental - or (as some hold) even psychological influences on the genesis of schizophrenia. The « mother-child complex », meaning the influence of earliest childhood, is unacceptable as a factor in the origin of child schizophrenia.

Therefore, observation of twins provides important conclusions on the constitutional or hereditary character of serious psychoses, as well as on criminality, suicide, homo-sexuality, involution psychosis, epilepsy, mongolism, mental debility, and many other problems of psychiatry and the important problem of influences by « nature and nurture », or constitution and environment, on psychic illness. All these make it possible to revise, in the sense of genetic constitution, several opinions held in psychotherapy, psycho-analysis, and psycho-somatics.
Il « metodo clinico-gemellare » nel rilievo del sintomo radiologico della stasi cerebrale e dell'influsso negativo delle cardiopatie sullo sviluppo corporeo (3 coppie MZ cardiopatiche discordanti)
Authors: Gedda Luigi
Published: July 2016

The Author reports two MZ twin pairs, one of 11 years old females and one of 18 years old males, only one twin in each pair being affected by severe cardiac failure. In both cases the cranial radiograph of the hyposystolic twin, compared with that of the co-twin, revealed the existence of cereblar stasis.

The Author also reports on two female MZ pairs of developmental age, each with one cardiopathic twin. In both cases the affected twin revealed a retarded body development and, in one pair, also retarded puberty.

The Author stresses how the twin study method is helpful in clinical as well as genetical research, thus reasserting its validity.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). IV - Ricerche sulla predisposizione genetica alla Tromboendoangioite obliterante
Authors: Serneri G. G. Neri , Bartoli V.
Published: July 2016

The Autors analize 25 families with proband affected by thromboangiitis obliterans, 25 families with proband with periferal arteriosclerosis obliterans and 300 families with proband with infectious diseases. The last two groups are as controll.

After describing two cases of thromboangiitis obliterans on the families of proband with T. O., the AA. examine the material under the statistical point of view.

In the group of families with T. O. they founf on higher incidence statistically signifiant, of rheumatic diseases (rheumatic fever and rheumatoid arthritis) and cerebral apoplexy of early unset (before 55 years of age).

The AA. admitt the existence of a genetic predisposition to thromboangiitis obliterans.

Such a predisposition probably leads on two genetic factors: one dominant autosomal with reduced penetrance and variable expressivity, witch is responsable of the abnormal mesenchimal reactivity (and for sue a reason, strictly related to the principal factor responsable of the predisposition to rheumatic disease). Tre other, recessive one, is responsable of a state of vascular vulnerability. This last factor is probably the localizing factor of the abnormal responsivity to the vascular mesenchima.

The genetic predisposition to rheumatic diseases, in the other way seems to have non genetic relationship to the diathesis of allergic diseases and the diathesis of degenerative connective tissue disorders (mesenchymotic diathesis).
Proposta del Test Gemellare Azigotico
Authors: Gedda Luigi , Brenci Gianni
Published: July 2016

Considering the development of the twin method the Authors deem it necessary to review the various systems of analysis presently used. They therefore design a method by which the twin material may be used even when zygosity is unknown. The Authors give this method the name of Azygotic Twin Test (T.G.A.), explain it theoretically and also give a practical example of analysis.

The Authors plan to make - new studies on the subject, in order to show further possible developments of this method.
Simultaneous Occurrence of Spherocytosis and Polydactyly in a Brazilian Family
Authors: Roisenberg I. , Palombini B. C. , Petersen Neusa
Published: July 2016

A description is made of a large Brazilian family of white ancestry in which some individuals presented polydactyly, other spherocytosis, and some both anomalies together. The information obtained involves five generations totaling 117 related members. Seventy eight of them were examined by the authors through clinical and laboratory methods. Both anomalies were found to be inherited by means of autosomic dominant genes; their joint occurrence seems to be casual. No genetic linkage was apparent between the genes which conditioned spherocytosis and those responsible for the ABO, MN and Rh blood group systems.