bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency of Clinodactyly in Children between the ages of 5 and 12
Authors: Marinis F. De , Marinis M. R. De 
Published: July 2016

SummaryA study of fingers characteristics was made on 1387 school children.1. Clinodactyly (5th finger) with an angle of inclination of 21.3 ±0.7 degrees, was found in 15.2% of the male and 8.06% of the female white children between the ages of 5 and 12. These represent the heterozygotes of the population, Cc, while the extreme form of clinodactyly, with an angle of inclination of over 30 degrees, most likely represents the homozygotes of the population, CC.2. Curved index finger (2nd) occurs less frequently than clinodactyly (in 2.22% of the group studied).3. Flexed little finger (5th) occurs least often, about 1 in 320.4. Bilateral penetrance ratio has been defined. Clinodactyly has a bilateral penetrance ratio of 0.77 in males and 0.64 in females. The curved index finger has a bilateral penetrance ratio of approximately 0.75.5. Clinodactyly also occurs in Negro children.6. An instrument is described for measuring the angle of inclination of clinodacyly.
The assimilation of the descendants of immigrants
Authors: Gini Corrado 
Published: July 2016

RIASSUNTOStranieri appartenenti a diversi gruppi etnici si sono stabiliti nell'Italia meridionale da qualche secolo: Albanesi, Slavi, Greci, Zingari, Provenzali, Valdesi. I risultati di una ricerca antropometrica sui soldati italiani delle classi 1859-63 dimostrano che i loro discendenti non presentano differenza alcuna dalla popolazione circostante nelle caratteristiche fisiche esaminate (indice cefalico, statura, pigmentazione).Per decidere se l'assimilazione sia stata la conseguenza di incroci oppure dell'influenza, diretta od indiretta, dell'ambiente, il Comitato Italiano per lo studio dei problemi della popolazione (C.I.S.P.) ha organizzato nel 1938 una ricerca accuratamente eseguita in tre villaggi albanesi della Calabria, esaminandovi i caratteri degli abitanti, suddivisi — in base alle loro genealogie — secondo la percentuale del sangue albanese o calabrese. Ne è risultato che non vi sono differenze considerevoli nei caratteri dei diversi gruppi, ciò che porta a pensare che la assimilazione si è effettuata indipendentemente dagli incroci e per conseguenza sotto l'influenza, diretta ο indiretta, dell'ambiente.Anche in Sardegna, a Carloforte e a Calasetta, ci sono due colonie di Italiani del Nord (Liguri e Piemontesi) che vi si sono stabilite più di recente, quasi due secoli fa. All'epoca della suddetta ricerca antropometrica esse presentavano differenze ben chiare dalla popolazione contigua. Quattro missioni scientifiche, organizzate dal C.I.S.P. nel 1939 e 1940 e nel 1952 e 1953 hanno posto in luce che, da allora, si è prodotta una considerevole assimilazione, la quale risulta pure essersi accentuata dal 1939-40 al 1952-53.Durante le due ultime missioni, sono state effettuate ricerche supplementari per rendersi conto del meccanismo con cui avviene l'assimilazione. Per Carloforte, si è potuto notare una selezione riproduttiva, che ha l'effetto di ridurre sempre più i discendenti degli antichi coloni liguri; ma non si è potuto confermare un fenomeno analogo per Calasetta. Si esamina la possibilità che nelle due colonie la assimilazione si produca attraverso una intensificazione della dominanza della pigmentazione bruna sulla pigmentazione chiara degli occhi e dei capelli e che delle mutazioni a carattere adattivo si producano sotto l'influsso ambientale.
Serology, genetics and nomenclature of the M-N-S types
Authors: Wiener Alexander S. 
Published: July 2016

SummaryThe symbols for trie 4 allelic M-N-S genes in common use, namely,MS, Ms, NS, andNs, are satisfactory only if one subscribes to the theory of linked gene couplets, but not for those who, like the present author, believe that the theory of multiple alleles is valid. Therefore, it is proposed to designate the 4 allelic genes by the symbolsLs,L lsandl, respectively. These symbols are easy to learn and to use, if one bears in mind thatLstands for the presence of blood factorMin the corresponding agglutinogen, andlfor the presence of blood factorN. Similarly the letterSin the superscript stands for the presence of blood factorSin the corresponding agglutinogen, while the absence of any superscript denotes the presence of blood factors. It is unnecessary to change the names of the phenotypes. This is fortunate, since duplication of nomenclature is avoided, such as exists unnecessarily in the case of the Rh-Hr types. The purpose of a phenotype name is to identify and not to provide a full description, or to indicate the genetic mechanism. For this reason, the phenotype designations of the M-N-S types should be the same, regardless of the genetic theory to which one subscribes.The practicability of the new gene symbols for the M-N-S types is demonstrated by applying them to a sample mating. A simple method of estimating the frequencies of the 4 allelic M-N-S genes is also described. These formulae are applied to Boyd's data on the distribution of the M-N-S types among 230 Bengalis. The results obtained do not differ significantly from those obtained by the more complex maximum likelihood method. Since the maximum likelihood method does not improve the accuracy of the estimates, the additional effort and skill which is required are wasted. The simple formulae proposed here yield results which fulfill all the requirements of anthropologists and geneticists.
Cheratosi palmo-plantare e allotopa associata a grave malattia dentaria in due fratelli mononati
Authors: Gedda Luigi , Pignatelli Adele 
Published: July 2016

SUMMARYThe Authors have studied two sibs, 20 and 6 years of age respectively, which show hereditary cheratosis of the palms and sales, with spots of cheratosis in other loci too, in addition to dental dystrophia and expulsive gingivitis.From the genetical point of view the most important factor is that neither parent is affected by the condition which on the other hand is generally considered as dominant.The Authors suppose that the morbid genotype comes from the father's side of the family tree.
Quintuplet and sextuplet births in the United States
Authors: Nichols John Benjamin 
Published: July 2016

In the course of study and publication of various aspects of natality and birth statistics, the writer has had occasion to unearth and compile the reports and records of quintuplet and sextuplet births which have occurred in the United States. Seventeen cases of such quintuplet births have been found, mostly well attested; and five of sextuplets, two well attested and three not completely verified.The source, character, and reliability of the information on which the records of quintuple and other high multiple births are based are matters for careful consideration and evaluation.Of the 17 quintuplet cases here reported 12 may be accepted as well verified: either on the authority of the attending physicians by their reports published in medical journals, by formal certification of the births to public registries of vital statistics, and statements obtained by personal correspondence. Most of the cases were reported in the newspapers; but such accounts, especially of local and contemporary cases, publicised by responsible newspapers and news-gathering agencies, may usually with due discrimination be accepted as quite reliable, especially when substantiated by photographs or verifiable from other sources. The information concerning one case is derived from a newspaper account which there is no reason to question; two of the cases (1826) were reported in a high-class newspaper nearly a year later from the physician's old records; one news story is quite hearsay in character; and one case is based on family statements lacking in specific details.
Beitrag zur Erblichkeit der Hirngeschwülste (Vorläufige Mitteilung)
Authors: Koch Gerhard 
Published: July 2016

SUMMARY1. Investigations carried out on twins and the families have revealed that within the major group of brain gliomatosis and glioblastomatosis there is a minor group (up to day) of accumulated familiar clinical cases.Topographically, they are tumours localized in the region of the ventricular germinative centres, that is to say, in the background of the brain (they are not cortical gliomas!). They depend on the disturbances and inhibition of the matricial cellules on the ventricular wall towards the cerebral cortex. Histologically they are considered as dysplasias with a blastomatosis character, that is to say, neoplastological productions on an heredogenetic basis the cause of which lies in histological disorders, disontoge-netic, and therefore, congenital.2. A work hypothesis is settled and established according to wich 2 factors at least are necessary for the formation of a tumour: a local one, hereditary: the neuroglial dyplasia in the region of the ventricular germinal centres with a tendency to tumours degeneration; and another or several general factors dependent on endogenous and exogenous influences, which on account of a disturbance of the general constitution (for example, hormone mechanisms of puberty, of the premenopause and of the beginning of the involution) which would allow the tumour to develop starting with the tumours genetic disposition.3. At the present time it is not known whether the genesis causing this neuroglial dyplasia and the concomitant malformations of other organs, sonsists in the mutation of a gen, since so far the gen is ignored as well the pleotropic effet of the action developed by the gen.4. The fact, that within the major group, in the majority of cases evidently not hereditary of gliomatosis and glioblastomatosis, there should appear a minor group, hereditary, must be considered, within the general investigation of the neoplasias, as a further proof that the essential thing of the hereditary predisposition to the development of tumours, must be considered as a specific local factor.5. The attention is called to the possible existence, within the astrocytomes of a small hereditary group of familial cases.6. The casuistry so far known has been enlarged with 20 cases (discordant) of twins and 6 observation in families which were compiled at the Neurological Clinic of Miinster Westfalen University.
Gene und Phänokopien in der Ätiologie menschlicher Missbildungen
Authors: Grebe Hans 
Published: July 2016

SUMMARYReport about the problem of hereditary and non-hereditary causes of some typical human malformations by genes and phenocopies.The example of mongolism shows that besides a genetical cause in some cases the opinion of a «dysplasmatical» origin in others is well proved.Malformations of the medullar part of central nervous system, especially their severest forms as anencephaly and spina bifida aperta can be inhereted or non inhereted.The German statistics after last world war (especially in the Russian zone) show, that anencephaly and spina bifida are most phenocopies.Harelip and cleft palate are inhereted in the rule.Phenocopies are rare.Malformations of the extremities are more inhereted than non inhereted. There are phenocopies, but more seldom than pathological genes. Their possibility is also given by the example of the well known experiments.
Über die Vierfingerfurche und ihre Übergangsformen, insbesondere bei Zwillingen
Authors: Tillner Irmgard 
Published: July 2016

SUMMARYWe researched a total number of 3974 persons for the frequency of simian lines and all the material is based on 375 monozygotic, 360 dizygotic, 226 twins of different sex and 2045 single persons of two groups of the population. We classified the material collected into three degrees of impress of the simian line: a little form « 3 », a middle form « 2 » and the classical simian line, called form « 1 ». The form « 3 », which was more frequent to be seen than the form « 1 » and « 2 » seems to contain characteristics of « accidental » genesis without any relation to classical simian lines. That was to be found especially in the case that the little form was only on the surface of one hand. In contrast to that the form on both hands allows the deduction, that there must exist a relation to simian lines. The relations between the forms « 1 » and « 2 » are more evident than these of the little form « 3 ».The classical simian line seems to be more frequent on the left hand and with the male sex than on the right hand and with the female sex. This picture is a counterpart to the behaviour of thenar patterns.The result of the average population ist applicable to twins, too. Furthermore it was possible to show by arithmetic, that the concordant reactions of the monozygotics and the discordant reactions of the dizygotics are based on the hereditary character of simian lines and their transitional forms. There is a remarcable difference between monozygotic and dizygotic which is caused by the fact, that discordance of monozygotic is to be found in the case that one partner is one-sided affected with. Moreover the discordant forms become less frequent, if the degree of impress increases. The dizygotics are in the inverse ratio.The absolute concordance, too, that means the same degree of impress on the same hands of both partners, is more frequently to be found in the case of monozygotic than in the case of dizygotic.
Congenital Malformations, Twinning and Associated Variables in a Brazilian Population
Authors: De Araújo Aldo M. , Salzano Francisco M. 
Published: July 2016

A sample of 6052 newborn children (4968 whites, 1084 Blacks) issued from parents with a generally low socioeconomic level, was studied in relation to congenital anomalies and twinning rates.The observed frequency of major malformations was 1.3% and of minor defects 2.0%. The twinning rate was 1.4%. Race differences were generally nonsignificant in these variables. These results are in agreement with those obtained in some other Brazilian series, but discrepancies were also observed.A total of 13%0 of the malformations observed proved to be familial, Polydactyly being the most common anomaly encountered in this class. The frequency of malformations different from those present in the propositi is higher in their sibships than the general prevalence of defective children found among the sibs of normal babies (13% and 4% respectively).Age, gestation length and exposure of the mothers to noxious agents during pregnancy were not significantly different when the parents of normal and malformed children were compared. On the other hand, as expected, the parents of twins are significantly older than those of single-born, and the gestation length was much reduced in pregnancies resulting in multiple births.
An Unusual Case of Hemoglobin Bart's Hydrops Fetalis
Authors: Halbrecht I. , Shabtai F. 
Published: July 2016

A baby with alpha-chain thalassemia hydrops fetalis was born to an Iraqian Jewish couple of Iraqi-Kurdish extraction. Hemoglobin Bart's constituted only 40% of the total hemoglobin, much less than usually found in alpha-thalassemia hydrops fetalis.That this is a particular expression of hemoglobin H disease is considered. The likelihood of two alpha-chain loci, rather than one alpha-chain locus, in this family, is also discussed.
Chronogenetics. Its Foundations, Scope, and Impact
Authors: Gedda L. , Brenci G. 
Published: July 2016

Many chronological correlations in different plant and animal species, in populations, in human families, and between cotwins, prove the existence of characteristic biological times. Some such times also tend to be related to cosmic time, in which they develop and from which they are induced, resulting in peculiar composite times, such as the daily, monthly, or annual rhythms, that are the object of study of chronobiology.Beyond these examples of exogenous chronological induction, the existence of a hereditary biological time is postulated, as the basic phenomenon in the relationship between time and life. The newborn scientific branch of “chronogenetics” is devoted to the study of the fundamental, endogenous genetic time, with its theoretical and practical, normal and pathologic implications. To explain and interpret the mechanisms of the hereditary biological time, the authors have developed a model based on the concepts of “ergon” (i.e., stability of the gene) and “chronon” (i.e., lifespan of the information). This Ergon/Chronon System is related to the gene, bringing into focus the fourth dimension and the dynamic aspects of unit of inheritance.The applications of chronogenetics extend to every expression of life, from the most primitive unicellular to the higher plants and animals. In the area of normal human traits, the study of the hereditary biological time contributes significantly to the interpretation of such phenomena as development, reproduction, homeostasis, and senescence. In the area of medicine, chronogenetics interpretes, unifies, and develops the temporal phenomena of inheritance. In a future perspective, chronogenetics appears to be fundamental for eugenics, preventive medicine, and prognosis.
Visual Function in the Syndrome: Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, and Hearing Loss
Authors: Brunette Jean-Real , Little John M. 
Published: July 2016

Since the late thirties a syndrome has been progressively completing its description. It consists essentially in juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss and optic atrophy. Neurosensory hearing loss, neurogenic bladder, autonomic dysfunction and hyperalanineuria have been added. The syndrome is generally familial.Electrophysiologic and psychophysiological retinal studies have been done in these cases. Profound electrophysiological disturbance has been described. Cases under actual evaluation are presented. Physiopathologic processes remain a problem. The nature of the retinal affection is also open for discussion.
Infantile Type of So-Called Neuronal Ceroid-Lipofuscinosis
Authors: Santavuori Pirkko , Haltia Matti , Rapola Juhani , Raitta Christina , Keranen Antti 
Published: July 2016

Attention was recently drawn to a progressive encephalopathy with early amaurosis. The disease has its clinical onset at the age of 8-18 months with rapid psychomotor deterioration, ataxia, muscular hypotonia. In the 45 cases examined microcephaly and myoclonic jerks were other prominent features; convulsions were few or did not occur at all. In all patients the disease reached a burnt-out stage during the third year. After the age of 5 years all children had a permanent increased flexor tonus in all limbs and flexion contractures were common. The mean age of death was 7.6 years. Early extinction of ERG, typical ophthalmological findings, and EEG records rapidly approaching isoelectricity were additional features.The disease has an autosomal recessive mode of inheritance. A total of 52 cases are known in Finland. Histologically, an almost total destruction of cerebral and cerebellar neurons was observed. The surviving neurons and glial cells contained granular material which histochemically resembled lipofuscin but ultrastructurally differed from those in earlier reported patients with neuronal ceroid-lipofuscinosis. The cases observed seem to form a clearly separable infantile type of so-called neuronal ceroid-lipofuscinosis.
Retinal Renal Dysplasia and Encephalopathy in a Patient with Triglyceride Storage Disease
Authors: Philippart M. , den Tandt W. , Borrone C. , Durand P. 
Published: July 2016

A 10-year-old girl with tapetoretinal degeneration, renal dysplasia similar to juvenile nephronophtisis, gradually increasing mental deterioration, walking incoordination, obesity, and ichthyosis is reported.Hystochemical analyses of the liver, spleen, intestine, lungs, myocardium, kidney, and brain, showed a glycolipid storage. A triglyceride storage in the liver was identified.Triglyceride lipase activity was about 1% and acid lipase activity 10% with respect to normal controls.A genetic factor, rather than a secondary metabolic inhibition of triglyceride lipase, is indicated by the normal activity of this enzyme in fatty liver from patients with Reye's syndrome and alcoholic cirrhosis. No inhibitor was found in triglyceride storage disease.
Prenatal Prediction of Autosomal Dominant Diseases by Linkage Studies: Myotonic Dystrophy
Authors: Omenn Gilbert S. , Schrott Helmut G. 
Published: July 2016

Remarkable progress in adapting specific chromosomal and biochemical tests to amniotic fluid samples has allowed intrauterine diagnosis for an increasing number of inherited conditions. However, the lack of any specific tests for autosomal dominant diseases, especially those affecting the nervous system and muscle, has precluded such prenatal evaluation in genetic counseling.Genetic linkage offers a potentially useful alternative approach to such diseases. The gene for a particular disorder must be closely linked to a genetic marker which can be analyzed in amniotic fluid or cells obtained in the second trimester of pregnancy.We have recently applied linkage studies to the prediction of myotonic dystrophy (Dm) during pregnancy. Dm is known to be closely linked to the secretor locus (Se), which determines the secretion of ABH blood-group substances into saliva and other body fluids, including the amniotic fluid of the fetus.Only certain families will be suitable for this analysis: the affected parent must have thesecretor-positive phenotype and be heterozygous (Se/se) at the secretor locus; the coupling of the Dm allele to the Se or se allele must be determined; and the spouse must be either secretor-negative or heterozygous secretor-positive. Secretor genotypes can be inferred from secretor phenotypes of close relatives, including the fetus at risk.Unfortunately, these criteria will be satisfied in only 5-10 percent of couples at risk to transmit myotonic dystrophy. In suitable couples, however, linkage analysis can be quite helpful.
Cardiac Electrogenesis in Twins
Authors: Jagielski J. , Nolis J. 
Published: July 2016

Vectorcardiographs and electrocardiographic examinations were made inMZ and DZ twins, triplets and quadruplets. The similarity of the cardiac electrogenesis in the twins was studied using the correlation calculation after the affinic transformation of the vectorcardiograms and the multipolar description of cardioelectric field. The similarity of electrocardiograms and vectorcardiograms in MZ twins depends on heart electrogenesis.The differences appearing during the neonatal period result from a nonuniform course of circulation organ adaptation and the establishment of conduction pathways in the newborn heart.
Further Development of Children from Multiple Pregnancy
Authors: Ochabska Z. 
Published: July 2016

This study has aimed at assessing the psychomotor development of children from multiple pregnancy after full-term and premature births. A total of 166 children aged 6 months to 12 years were examined, including 70 pairs of twins, 2 sets of triplets, and 20 more children from multiple pregnancies of which only one child had survived.A body weight below 10 percentiles was in 17%, and stature deficiency in 23% of children. The psychomotor development was arrested in 13%. Most of the children (18 out of 23) with arrested psychomotor development had a low body weight at birth and a complicated course of the neonatal period, as well as serious general illnesses in the infantile period.
Psychomotor Development of Children from Multiple Pregnancies. A Psychological Evaluation
Authors: Bogdanowicz M. 
Published: July 2016

Psychological examinations were made in 56 children from quintuplet, quadruplet, and triplet pregnancies. The psychomotor development of these children from multiple pregnancies did not, as a rule, differ much from the one of singletons, although the multiple pregnancy was more inclined to cause lesions of the central nervous system. Out of the 56 children examined, 25 were found to develop properly.It is necessary to examine the development of each child separately, taking into consideration its health condition in the neonatal period and its specific environment which effect the individual development and may be the cause of disturbances, as well as of mental differences not only in children from the same pregnancy but even in MZ twins.