bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intrafamiliäre Variabilität einiger typischer Missbildungen
Authors: Grebe Hans , Wiedemann Hans-Rudolf 
Published: July 2016

SUMMARYReport of 4 families with two or three sibblings who suffered from different malformations of skeleton system and dwarfism.In the first family is supposed, that the different severe chondrodysplasie of three children who descended from healthy parents was caused by a recessive gen which is unstable in manifestation.In the second family was found that a dwarfic mother had two sons with phenotypical differences on chondrodysplasie.In the third family a sister who was less deformed and a brother with severe dwarfism (among 13 sibblings) showed different phenotypes of a rare (skeleton) system sickness in any way related to chondrodysplasie. Consanguinity of their parents seems to be expression of a single recessive gen.In the fourth family were found two brothers who had healthy, blood related parents. The abnormities of their skeleton system are supposed to be a rare form of dysostotic dwarfism.The observations above communicated may show how many special gens exist in pathological human genetics. The phenotypical differences of special human deformities seem to prove a dependence from a respective genotypical association.
Earlobe Attachment, Hand Clasping and Arm Folding Among Tamil Brahmans in Relation to Cultural and Ethnic Affiliations
Authors: Srinivasan S. , Mukherjee D.P. 
Published: July 2016

The traits, earlobe attachment, hand clasping and arm folding, are found to show a high degree of homogeneity in the Tamil Brahmans.The latter appear to be closest to the Bengali Brahmans, with respect to all three traits, and differ significantly from other Brahman populations, with respect to earlobe.
Genetic Counseling in Chromosomal Aberrations in Neurology and Ophthalmology
Authors: Robert J.M. , Laurent C. , Pernod J. 
Published: July 2016

On the basis of their genetic-counseling experience with 4000 propositi, the authors start by recalling in a first part the fundamental mechanisms of the appearance and heritability of chromosomal aberrations.In a second part, they summarize the correlations between clinical cases and chromosomal abnormalities presently described in the literature. Only the syndromes in which a neurologic and/or an ophthalmologic history exists are reported.In a third part, modalities of genetic counseling, with a summing-up of general risks for chromosomal rearrangements and of their principal circumstances of diagnosis, are related.Genealogic and cytogenetic studies necessary for counseling are briefly recorded.
Recessive Familial Spastic Paraplegia with Retinal Degeneration
Authors: Macrae W. , Stieffel J. , Todorov A.B. 
Published: July 2016

A family is described in which spastic paraplegia and retinal degeneration were observed in 5 out of 11 sibs in one generation. All affected members of this family had the onset of bilateral ocular symptoms during the fourth to fifth decade. Visual impairment was slowly progressive and ranged from 20/25 to 20/100.There was a macular and perimacular speckling with small, irregular, discrete spots and central pigment proliferation, at the level of the pigment epithelium. Fluorescein angiography revealed patches of proliferating retinal pigment epithelium blocking transmission of fluorescein, surrounded by a larger area of disruption of the retinal pigment epithelium giving a “window-effect” choroidal pattern. The right macula showed a nonspecific, nonfluorescent, reticular pattern.The most likely explanation of the ocular findings was a retinal degeneration involving the retinal pigment epithelium and/or the chorio-capillaries. Extensive laboratory work was negative.
Comments to Dr. H. Petit's Communication on Refsum's Disease and Refsum's Syndrome
Authors: Refsum Sigvald 
Published: July 2016

The difference between the two clinical pictures, heredopathia atactica polyneuritiformis and “Refum's syndrome” is stressed, together with their individual variability. A review of the literature clearly shows that in none of the cases of “Refsum's syndrome” described so far have any biochemical errors been identified.The cases with a symptomatology similar to heredopathia atactica polyneuritiformis represent a challenge to further intensive studies.
Dominant Congenital Deafness and Progressive Optic Atrophy. Report of a Family Through Four Generations
Authors: Konigsmark Bruce W. , Knox David L. , Hussels Irene F. , Moses Howard 
Published: July 2016

Six persons in four generations had congenital severe deafness and progressive mid-life visual failure. The 53-year-old proband and her 9-year-old son, studied in detail, had severe neural hearing loss and optic atrophy, much more severe in the mother. Her vision was 20/80 in each eye while her son's vision was normal. No cause for the hearing or visual loss was present except heredity.The proband's father, seen years ago at the age of 68, was congenitally deaf and had progressive visual loss with optic atrophy. By history, the proband's two maternal aunts and paternal grandmother had this same syndrome. The syndrome, transmitted by dominant mode, is unique and distinct from other familial syndromes of visual and hearing loss, including those described by Usher, Refsum, Alström, Cockayne, Norrie, Small, Sylvester, Rosenberg and Chutorian, and Tunbridge and Paley.
Prognosis for the Newborn from Multiple Pregnancy
Authors: Osuch-Jaczewska R. , Lempart O. , Ochabska Z. 
Published: July 2016

A total of 669 newborns from multiple pregnancies, including 15 triplets, have been examined. Full-term fetuses were 19.3% premature ones 60.7%, and dystrophic ones 20%. Of these, 58.4% were born in good conditions, 25.1% in average conditions (4-7 Apgar scores), and 16.4% in bad conditions (1-3 Apgar scores). Complications in the neonatal period were reported in 38.7% of cases (respiratory syndrome 21.2%, CNS injury 4.8%, developmental defects 1.3%, other complications 9.3%).Twin mortality amounted to 10.5%, mainly due to hypoxemia (7.2%), cerebral lesion (2.4%), developmental defects (0.4%), and general edema (0.5%).
Development of Premature Twins with Dissimilar Birth Weight. I. Physical Development
Authors: Janus-Kukulska A. , Kiepurska-Zdzienicka J. 
Published: July 2016

The physical development of 20 premature same-sex twin pairs with dissimilar birth weight was observed, as compared to a control group of 17 pairs of premature same-sex twins born with similar weight.The comparison showed that greater differences in development occur between twin siblings born with dissimilar weight. The twins poorly grown in utero were at a disadvantage mainly in body weight.In the preschool or school age, twins poorly grown in utero twice as often had underheight. Underheight was found more frequently in boys.The degree of intrauterine dystrophy does not seem to be of great importance to the further development. Neither was any relationship found between the physical development of the dystrophic twin and the degree of prematurity, as defined by fetal age and birth weight of the larger twin.
Effect of Living Conditions on the Development of Multiplets Born in the Danzig Province in 1957-1971
Authors: Kaminska M. , Ksiezopolska-Kaczorowska A. , Marek A. , Gumkowska-Kaminska B. , Bogdanowicz M. 
Published: July 2016

The development of a total of 58 triplets, quadruplets, and quintuplets, born in the province of Danzig in the years 1957-1971, is analysed. The examinations show that the physical development of multiplets in the first year of age is similar to that of singletons, irrespective of their social conditions. In the second year of age, however, multiplets with bad social conditions showed a much worse rate of development.Only half of the 56 children examined by a psychologist reached IQ norms, the others being on the verge of normalcy and mental deficiency, or even lower. Out of 30 school-age children, 16 had difficulties in learning and 15 of these showed features of mental development deficiency.
Physical Development of the Danzig Quintuplets in Their First Year of Life
Authors: Kaminska M. 
Published: July 2016

The physical development of the quintuplets in their first year of age is described, including anthropological measurements, psychological, hematological, immunological, and other examinations.Piotr appeared to show the highest rate of height and weight growth; Ewa, the lowest one. In the 7th month of age, head and chest circumference values achieved the standards of singletons born at term. Psychomotor development of the quintuplets was not only proper but even exceeding. Teething occurred in the 8th-10th month. Hematological examinations in the first 6 months showed some anemia, which disappeared in the 7th month. Other laboratory examinations did not show any deviations, except for slightly lowered serum level of gamma-globulins. In their first year of age the children suffered from nearly any diseases. The infections of the upper respiratory tract showed a mild course.
HCS, HCG, and HCG Subunit Serum Levels During Multiple Pregnancies
Authors: Gaspard U. , Franchimont P. 
Published: July 2016

HCS, HCG, and HCG α and β subunits were measured in the serum of women with unifetal or multiple pregnancies. Highly specific radioimmunoassay procedures were used for the determinations.Serum maternal levels of HCS are greatly increased in multiple pregnancies, sometimes more than could be expected from increased placental weight alone. Serum undissociated HCG is also elevated in multiple pregnancies. The relationship between undissociated HCG and its free circulating α and β subunits is different in multiple and unifetal pregnancies and this difference is discussed.
The Genetic and Somatopsychic Examination of Twins Born in Budapest in the Year 1970
Authors: Sarkany J. , Agoston J. , Goracz G. , Tomka M. 
Published: July 2016

With the introduction of obligatory registration of twins in Budapest on 1 January 1970, our team started the genetic and somatopsychic examination of twins. The program is being carried out in collaboration with the institutions of the Child Health Care Organisation of Budapest and the National Institute of Public Health.Since 1 January 1970, the placentae of twins born in Budapest are submitted to pathologic and histologic examination, and the twins living in Budapest are examined systematically by our clinical group at the age of six months, and one, two, and three years.In addition to studying the social environment, examinations are carried out with regard to pediatrics, anthropometric measurements, photographic documentation, dental examination, dermatoglyphics, cardiology, and neuropsychiatry. In order to define the genotype of the twins we used haptoglobins and blood groups.
Twins and Science
Authors: Gedda L. 
Published: July 2016

That personage on horseback dominating the piazza of the Capitol, were he alive and not a bronze statue, would I think be very happy about this Symposium now opening.I may even imagine that Marcus Aurelius would leave his role of sceptical emperor-philosopher to assume that of paterfamilias, smiling benignly upon us all, as he was the father of twins: Commodus, emperor after him, and Antonius Geminus.He had a special medal struck, when these twins were born to him by Faustina, bearing her image and that of Juno Lucina, goddess of fertility. He then had six children, and Faustina was to bear him seven more — quite a large family, as is often the case when there are twins.Yes, I am sure that Marcus Aurelius would rejoice at the opening today in Rome of this first Symposium of twin researchers, their object being not only to know twin better, but also to assist them, and because the Symposium is the first, the beginning, we hope, of a series of many more most fruitful ones.
Il Rischio Empirico di Nascite Multiple
Authors: Casa D. , Lun M. T. 
Published: July 2016

Nella consulenza eugenica, il metodo formale, fondato sull'esame dei rapporti mendeliani attesi in funzione del tipo di trasmissione del carattere, dovrebbe essere la norma, ma le limitate conoscenze di genetica umana e medica lo rendono inapplicabile per la maggior parte dei casi.È necessario, quindi, ricorrere al pronostico empirico per poter soddisfare alle domande che vengono rivolte al consulente eugenico. Tra le domande che più spesso ricorrono vi è quella posta dalle madri di gemelli per conoscere quale probabilità esse hanno di un novello evento gemellare nei loro concepimenti.Per dare una risposta a questo interrogativo e chiarire contemporaneamente il quesito che, anche se più raramente, viene posto da madri, esse Stesse gemelle, su quale sia la probabilità di avere figli gemelli, abbiamo predisposto due diversi rilevamenti tra le oltre 14000 schede della gemelloteca dell'Istituto Mendel di Roma.Il primo rilevamento, limitato a 2000 schede contenenti alberi genealogici con dati certi, ha dato come risultato un numero di genitori di gemelli, anch'essi gemelli, di 58; cioè, di 58 su 4000 genitori complessivi.
Do Conception Delays Explain Some Changes in Twinning Rates?
Authors: Allen Gordon , Schachter Joseph 
Published: July 2016

The probability of a twin birth depends strongly and almost equally on the age of the mother and on the number of children she has had. Even when these variables are held constant, the frequency of twinning varies between countries or geographic regions and between years or decades. This variation has been thought perhaps to result from economic and environmental factors, but another explanation can be suggested.Bulmer (1959) found that twins are frequent among the earliest conceptions after marriage. Eriksson and Fellman (1967) found twins to be frequent among illegitimate births and suggested that the mothers of twins conceive more easily than other women; in other words, that they are more fecundable. We can present some new evidence for this hypothesis, and we believe that high fecundability in the mothers of twins can account for variations in the twinning rate.Fig. 1 shows the wide range of twinning rates in the US white population, in different parts of the country and for three periods, centering on 1937, 1954 and 1964. The nine geographic divisions are shown in descending order according to the twinning rates in 1937. The two regions at the right, with the lowest rates in 1937, had nearly stable twinning rates over the three time periods. They are the oldest and most urban parts of the country.
Studies on Twins IV. Twinning in Madhya Pradesh
Authors: Goswami H. K. 
Published: July 2016

Frequency and inheritance of twinning have been studied from urban and rural parts of Madhya Pradesh. Family data conform to previous findings by other authors, for other countries, that DZ twinning is influenced by the mother's genotype.Of special interest has been a rural family in which a female, herself a cotwin of DZ pair, married twice, each time giving birth to DZ twins.The high rate of twinning in rural areas is suggested to be due to higher coefficient of inbreeding, better physical condition of mothers on the countryside, higher mean birth order, and higher mean age of mothers. Lack of family planning may have also played a role.
Placental Forms and Zygosity Determination of Twins in Ibadan, Western NigeriaA study of 1475 twin maternities
Authors: Nylander P. P. S. 
Published: July 2016

The incidence of twinning in Western Nigeria is very high, being 45‰ (Nylander, 1969a), as compared with 11-12‰ in Caucasian populations (Registrar General, 1967). A recent study of twinning in Ibadan, in which zygosity of individual twin pairs was determined, has shown that the pattern of placentation and zygosity in this population is also very different from that in Caucasian populations.As many as 1475 consecutive newborn twin pairs delivered in three hospitals in Ibadan between March 1967 and April 1969 were investigated.The placentae of the twins were examined macroscopically by the author personally to determine the form (whether single, fused, double or separate) and the membrane relationships (whether monochorionic or dichorionic) as shown in Figs. 1 and 2. The membrane relationship was confirmed by histological examination.Cord blood samples were collected from each twin pair and studied for (1) ABO, Rh (using antisera, C, c, D, E, e), MNSs and Gonzales blood groups and (2) G6PD electrophoretic pattern. Other blood groups like Fya, k and Jk, used initially, were discontinued later, because the gene frequencies in this population are such that they are uninformative for zygosity determination.Samples of the placenta of each twin were sent in refrigerated containers to the Galton Laboratory, London University, for placental enzyme studies — phosphoglucomutase and peptidase (Hopkinson and Harris, 1968; Lewis and Harris, 1967).
Probabilité de Jumeaux DZ parmi des Jumeaux Concordants Sanguins
Authors: Defrise-Gussenhoven E. 
Published: July 2016

Dans le laboratoire d'anthropologie de l'Institut Royal des Sciences Naturelles de Belgique, le Prof. Twiesselmann a organisé, en 1961, une enquête gémellaire au cours de laquelle une centaine de paires (jumeaux de même sexe) et de couples (jumeaux de sexes opposés) furent analysées. Seules 63 paires pour lesquelles nous possédons des données biométriques complètes seront envisagées dans cette note.Neuf sérums sanguins — respectivement deux, deux et cinq pour les systèmes ABO, MN et Rh — permirent de séparer les 63 paires en deux groupes:1) 30 paires de jumeaux concordants pour les neuf sérums;2) 33 paires de jumeaux discordants pour au moins un sérum.Les 33 paires étant certainement DZ, nous nous proposons d'évaluer, en termes de probabilité, le nombre k de paires DZ qui peuvent se cacher parmi les 30 paires de jumeaux concordants, dont la majorité est MZ.Pour chacune des 30 paires de concordants, Mme Vrydagh a calculé la probabilité de monozygotie en utilisant la méthode de Maynard-Smith et Penrose (1954) qui est basée sur le théorème de Bayes de la probabilité des causes. Pour nos 30 paires de concordants, ces probabilités vont de 83 à 92%; elles auraient été plus élevées si plus de sérums sanguins avaient été utilisés.
Leukemia in Twins World-wide review of clinical cases
Authors: Keith L. , Brown E. 
Published: July 2016

We undertook an extensive review of world-wide clinical reports of leukemia in twins. Our survey was a careful one; exclusions are inevitable, but, if so, are inadvertent, except for undocumented “personal communication” cases. These have sometimes been included in large reviews of either leukemia or leukemia in twins. Also excluded are cases mentioned only tangentially in reports of cancer in large population groups, if no clinical details were given. In some instances, we were able to adapt available clinical information to our tables.Leukemia appears to occur at four periods in the lives of twins: (1) the perinatal-congenital period; (2) early childhood; (3) late childhood; and (4) adulthood. Those cases occurring around the time of birth and the first year of life are combined under the title: Perinatal-Congenital. In Tab. I, Early Childhood extends from about 2 to 7 years, and Late Childhood from 7 through 12 years. All other cases have been considered as Adult. Two cases occurring in teenagers have been placed in this group in accordance with clinical practice. We have compiled 62 cases of leukemia in twins from clinical reports from the world publications in the following categories: Perinatal-Congenital, 15; Early Childhood, 26; Late Childhood, 9; Adulthood, 12. Comparative clinical details of all these cases will be published in a subsequent report.Except for those instances about which writers admitted that the diagnosis of zygosity was in question, most reported clinical cases occurred in MZ twins. There were 39 cases of leukemia in MZ twins, 13 cases in DZ twins and 10 cases in whom zygosity was in doubt.
Changes in Maternal Body Composition Resulting from Twin Pregnancies
Authors: MacGillivray Ian 
Published: July 2016

The maternal response in terms of changes in weight, plasma volume, total body water, intravascular protein mass and urinary oestriol excretion to a singleton pregnancy has been shown to be related to the size of the baby produced. Twin pregnancies have been studied to assess the maternal response to the double load, to see whether a much greater response is required compared to a singleton pregnancy. It is hoped that this study will eventually show not only what can be considered to be a physiological response to a twin pregnancy, but will show how the maternal organism sometimes fails to respond normally to the double load.Observations were made at 30 to 32 weeks and again between 36 and 39 weeks of pregnancy in 14 primigravid twin pregnancies and 17 multigravid twin pregnancies, as well as in singleton primigravidae. For the purposes of comparison the singleton pregnancies have been divided up by the amount of weight gain during pregnancy. High weight gain was defined as 600 g/week or more during the 20th to 30th weeks. Normal weight gain was 360-540 g/week and low weight gain 320 g/week or less. The observations made were plasma volume using dye T. 1842 (Evan's Blue); total body water using deuterium oxide and measuring in an infrared spectrophotometer; the intravascular protein mass; the red cell mass; and the urinary oestriol excretion.
L'Epatite Virale in Gemelli Uno studio clinico-epidemiologico
Authors: Raimondo F. Di , Rosci M. A. , Leoni G. C. 
Published: July 2016

Uno studio genetico dell'epatite virale (soprattutto quella da virus A, o epidemica) appare, fra l'altro, giustificato (1) dalle anomalie epidemiologiche dell'affezione e dalla difficoltà di interpretarne le ripetizioni familiari, soprattutto a grandi intervalli di tempo e di luogo; (2) dalla notevole variabilità della risposta clinica all'agente, il che fa sospettare un'influenza del genotipo dell'ospite (Di Raimondo, 1962; Varay e Berthelot, 1969); (3) dalla presenza di particolari reazioni immunitarie (di tipo autoanticorpale), specie nelle forme cronicizzate e nella cosiddetta epatite cronica attiva, verosimilmente dovute a meccanismi genetici (Varay e Berthelot, 1969).Abbiamo dunque condotto, su circa 1800 casi ricoverati nel 1967-1969 nell'Ospedale Spallanzani, oltre all'analisi delle aggregazioni familiari, lo studio particolare di coppie gemellari MZ e DZ, utilizzando anche casi registrati nella gemelloteca dell'Istituto Mendel.L'indagine gemellare si basa finora su 29 coppie, con dati completi per 24, incompleti per 5. I parametri di malattia sono stati scelti con particolare riguardo al fattore tempo, inserendo così lo studio nel più vasto programma dell'Istituto Mendel sul «chronon» (Gedda e Brenci, 1969).L'accostamento di tipo clinico-gemellare appare più interessante del semplice raffronto interzigotico, perché consente, tra l'altro, conclusioni sicure anche su poche coppie concordanti.
Growth Inhibitory and Haematological Effects of Alkylating Agents and Attempts at their Modification to give Greater Selectivity of Anti-Tumour Action
Authors: Elson L. A. 
Published: July 2016

SummaryAttempts to induce greater relative tumour specificity in cancer chemotherapeutic drugs may be aimed at (1) reducing toxicity towards host tissues or (2) increasing the susceptibility of the tumor.1. Pretreatment with certain thiol derivatives has some protective action against the host toxicity of X-irradiation and of certain alkylating agents. However, in many cases even better protection against the tumour-inhibitory action occurs so that the therapeutic index is unfavourably affected.2. Pretreatment with glucose which accentuates the pH difference between normal and tumour tissues can, in some cases, produce an increase in therapeutic index.3. The most encouraging aspect is to explore and take advantage of biochemical variations from the normal tissue pattern which are found in certain tumours, e.g. the successful treatment of the ADJ/PC5 mouse myeloma with «aniline mustard» is believed to be related to the very high glucuronidase activity of this tumour.