bluuebunny/crossref_metadata_2025_split huggingface dataset:
Immunohistochemical Analysis of c-Fos and c-Jun in Retinoblastoma
Authors: Faraldi F. , Calzolari A. , Forni M. , Mincione F.L. Chiarelli , Alfieri G. 
Published: July 2016

AbstractThe c-fos promoter is negatively regulated by the retinoblastoma (Rb)-suceptibility-gene- encoded protein as well as by other genes involved in the control of transcription, cell cycle regulation and neoplastic transformation. We have examined by immunohistochemistry the c-Fos and c-Jun proteins in five cases of retinoblastoma in order to evaluate eventual alterations in their expression in vivo, possibly related to a gene mutation or to loss of Rb negative control.
FRAXA and FRAXE: New Tools for the Diagnosis of Mental Retardation
Authors: Murgia A. , Vinanzi C. , Polli R. , Artifoni L. , Zacchello F. 
Published: July 2016

In the era of prevention and early diagnosis, mental retardation (MR) represents one of the most important challenges to modern medicine. Much needs to be done to restrict the number of different forms of this vast category of chronic handicaps for which accurate diagnoses are not yet available. The goal is to reduce the social burden and provide better care for patients and families.The identification and characterisation of the molecular mechanisms which silence the FMR1 gene and which are responsible, in the majority of cases, for the fragile X syndrome (FRAXA) [1-4], the leading known cause of inherited mental retardation, led to the discovery of an extremely important new class of mutations: “dynamic mutations”. These are highly unstable interspersed repeats, located close to or within genes, which show a strong tendency to expand. This discovery has raised the possibility for direct molecular diagnosis of FRAXA and several other diseases based on the same molecular mechanism, including a different form of MR associated with a fragile site in Xq28, named FRAXE [5].With these tools, we have started to study the structural characteristics and pattern of transmission of these mutations in a population of mentally retarded individuals mainly coming from north-eastern Italy. The aims of our study were (a) to establish the true incidence of FRAXA and FRAXE full mutations as a cause of mental retardation in our population, and (b) to re-evaluate families in which at least one individual had a cytogenetic fra(X) diagnosis, in order to identify mosaicisms and premutations that could not be identified cytogenetically, and to establish the carrier status of relatives of affected individuals.
Carriers of Genetic Disorder and the Right to Have Children
Authors: Dickenson D. 
Published: July 2016

The are two common replies to the question of whether carriers of genetic disorder should have children. The first simply ends any argument by claiming that everyone has an inalienable right to have children. In many ways this view is quite attractive. The right is said to be universal as well as inalienable. It avoids odious comparisons and applies to everyone, including those whom society has deemed unfit for the flimsiest reasons.In the United Kingdom, for example, a High Court judge recently upheld the decision by Sheffield Health Authority to refuse IVF treatment to Julie Seale, who was then 36, on the grounds of her advanced age. This latest salvo in what one writer has called “the fertility war” follows on from the Grand Peninsular Campaign against IVF treatment for post-menopausal women and the recurrent guerilla battle over enforced sterilisation. As this author remarks, “What has happened without our really noticing it is that, with every new skirmish in the fertility war, we are becoming more and more comfortable with the idea that some people deserve to be parents more than others” [1]. And in an age of what is essentially payment by results, there is a great temptation for healthcare providers to think that those who deserve to be parents are those with the best clinical chances.
Incidence of Handicaps in Multiple Births and Associated Factors
Authors: Yokoyama Y. , Shimizu T. , Hayakawa K. 
Published: July 2016

AbstractThis study investigated the degree of risk of handicap in twins, triplets, quadruplets and quintuplets and associated factors, and examined the clustering tendency of handicaps. The sample was recruited from the Kinki University Twin and Higher Order Multiple Birth Registry. This panel consisted of 705 pairs of twins (1410 twins), 96 sets of triplets (287 triplets excluding 1 infant death), 7 sets of quadruplets (27 quadruplets excluding 1 infant death), and 2 sets of quintuplets (10 quintuplets), all of whom were born after 1977. The incidence of handicap was 3.7% in twins, 8.7% in triplets, 11.1% in quadruplets, and 10.0% in quintuplets. The risk of prodicing at least 1 handicapped child was approximately 1 in 13 pairs of twins (7.4%), 1 in 4 or 5 sets of triplets (21.6%), and 1 in 2 sets of quadruplet and quintuplets (50%). There was a significantly higher clustering tendency of handicaps in twins and triplets compared with the expected frequency calculated from the incidence rate of handicap. Four significant risk factors for subsequent handicap were found by logistic regression: gestation number, shortening of gestational age, premature rupture of the membrane, and toxemia during pregnancy.
Amenorrhea in Gonadal Dysgenesis, Caused by Chromosomal Translocation
Authors: Gedda L. , Carrega R. , Borgese L. , Strollo F. 
Published: July 2016

AbstractA healthy 23-year-old woman with amenorrhea was examined at the Mendel Institute. She had been amenorrheic for 4 years, and had not responded to hormone treatment. We therefore decided to study her family tree and karyotype. We describe the results of our study here: the patient was found to have gonadal dysgenesis, caused by translocation of a fragment of the X to a 12 chromosome, resulting from a break at q21, at the end of the q-arm.
On the Ontogeny of Persons
Authors: Gedda Luigi 
Published: July 2016

I would like to reply here to a number of criticisms concerning the stance taken by Pope John Paul II on the rights of the unborn child in his book Crossing the Threshold of Hope, made by Dr John Godfrey of the University of Edinburgh in a recent article entitled “The Pope and the Ontogeny of Persons” (Nature, 12 January, 1995).The accusation levelled against John Paul II is contained in the subheading of John Godfrey's article: “In the recent book… Pope John Paul II airs his views on human reproduction. The pity is that he ignores most of modern genetics and embryology”. Dr Godfrey quotes the following passages written by the Pope in Crossing the Threshold of Hope: “The concept of a ‘person’ is not only a marvellous theory; it is at the centre of the human ethos… in this field more than in any other, collaboration among pastors, biologists and physicians is indispensable”.
The Higher Rate of Multiple Births After Periconceptional Multivitamin Supplementation: An Analysis of Causes
Authors: Czeizel A.E. , Métneki J. , Dudás I. 
Published: July 2016

AbstractA randomized controlled trial of periconceptional multivitamin supplementation (including 0.8 mg folic acid – see the Materials and Methods section for the precise composition of the multivitamin and trace-element supplementation) was carried out for at least 28 days before conception. The trial was continued until at least until the second missed menstrual period to test the effectiveness of this new primary preventive method in the reduction of neural tube defects. However, other pregnancy outcomes were also evaluated. Of a total of 5,502 pregnant women, 4,846 births were analysed in the final data base. The rate of multiple births was significantly higher in the multivitamin group (3.8%) than in the placebo-like trace-element control group (2.7%), and in both groups exceeded the multiple birth rate of 2.2% in the Hungarian population at large. 7.3% of women in the multivitamin and 7.9% of women in the trace-element groups had received ovarian stimulation treatment (mainly clomiphene) for hormonal dysfunctions, eg. anovulation. Nonetheless, our study showed that periconceptional multivitamin supplementation, with or without ovarian stimulation, increases the rate of multiple births.
Twins' Perception of Their Environment: A Cross-cultural Comparison of Changes Over Time
Authors: Fischbein S. , Guttman R. 
Published: July 2016

AbstractIn a previous Swedish twin project (the SLU-project), approximately 300 MZ and DZ twin pairs and controls were followed through the Swedish compulsory school from grade 3 to grade 9. Results from this study indicated an increase of genetic influences on school achievement over time for children from a permissive home environment and a decrease for children from a restrictive home environment. These types of data have generated a more general model for studying heredity-environment interaction in educational settings. To test this model, a cross-cultural comparison over time of twins and controls in the Israeli kibbutz school and in the Swedish compulsory school has been made. Restrictions on the child were originally assumed to be more apparent in the kibbutz environment.
The Fate of “Small Twins”: A Four-year Follow-up Study of Low Birthweight and Prematurely Born Twins
Authors: Åkerman B. Alin , Thomassen P.A. 
Published: July 2016

AbstractThis follow-up study of twins includes 35 families from the Stockholm area. One section concerns the physical and mental development of the twins. The other sections compare the development of the children with their parents' expectations of them and the parents' feelings about the delivery. Seven twin pairs (20%) in the total group were born before 37 complete gestational weeks. Thirty-seven of the twins weighed less than 2,500g at birth; of these, 23 (9 boys and 14 girls) weighed less than 2,500g, although they were born after 37 gestational weeks. At four years of age, 22 of the 68 twins still showed some impairment of locomotor, language/speech and emotional development, as assessed by the Griffiths Mental Development Scales. All the prematurely born and small-for-date infants were in this group. There also seems to be a relationship between developmental problems and the mother's negative or ambivalent expectations concerning the twin pregnancy.
Temperament Prediction for Neonate Twins: Relation to Size for Gestational Age in Same-Sex Pairs
Authors: Riese M.L. 
Published: July 2016

AbstractInfants from 22 pairs of appropriate-for-gestational-age/small-for-gestational-age (AGA/SGA) same-sex twins were assessed for temperament stability between the neonatal period and 30 months of age. The evaluation of neonatal temperament included observers' ratings of irritability, resistance to soothing, activity level while awake, activity level during sleep, reactivity, and reinforcement value. At 6, 9, 12, 18, 24, and 30 months mothers rated their infants' temperament on standardized questionnaires which yielded nine temperament categories: activity level, rhythmicity, approach or withdrawal, adaptability, intensity of reaction, quality of mood, attention span, distractibility, and threshold of responsiveness. The Bayley Scales of Infant Development were administered at 6, 9, 12, 18, 24, and 30 months to assess mental development. The results of longitudinal correlational analyses indicated that, for the AGA infants, there was a pattern of significant predictive relations between the neonatal ratings of temperament and maternal ratings of temperament at 6, 9, 12, 18, 24, and 30 months. The SGA infants did not demonstrate similar behavioral stability from the lying-in period up to 30 months of age. Furthermore, for AGA infants there was a consistent trend for both reactivity and neonatal activity during sleep to predict mental development scores between 6 and 30 months. A similar pattern was not observed for the SGA cotwins. The results indicated that temperament stability is an additional area of risk for SGA twins, and that the developmental function of the underlying processes in the neonatal measures is different for AGA and SGA infants.
Twin Umbilical Cord Blood Gas Values
Authors: Fuchi I. , Noda K. 
Published: July 2016

AbstractIn vaginally delivered births (including a few cases where the mothers were under epidural anesthesia), differences between first and second born twins were compared according to presentation at delivery. Of twins with vertex/vertex presentation in 15 primipara cases and in 14 multipara cases, pO2 levels for the second born were significantly lower (both being p < 0.05) than for the first born. Of twins vertex/non-vertex presentation, the second born in 9 primipara cases showed significantly lower pH, pO2 and HCO3 levels (p<0.05). Also for multipara twins, the second born had significantly lower pH (p<0.05) and significantly higher pCO2 (p<0.05) values. Umbilical cord blood gas value findings indicate unfavourable conditions for second born twins.
Twinning in the Palestinian Population of Jerusalem and the West Bank
Authors: Gedda L. , Martins M. , Parisi P. 
Published: July 2016

Although it is currently believed that the Palestinian population has relatively high twinning rates, to our knowledge no specific studies on this have yet been conducted. Therefore, and as a first step in our institutional program to develop medical and social care, as well as research programs specifically directed to twins in this area of the world, a number of observations have been conducted in order to gather estimates of twinning rates in the Palestinian population of East Jerusalem and the West Bank of the Jordan. This corresponds to the regions of Judea and Samaria, largely composed of small villages where most of the population lives, as well as a number of more important centers, such as Jenin, Nablus, Ramallah, Bethlehem, and Hebron.Although we have, unfortunately, been unable to obtain vital statistics on the entire Palestinian population of the West Bank from the administrative offices of Judea and Samaria, information on total maternities and twin maternities by sex, for the period 1984-1988, was kindly provided by all Arab hospitals and maternity clinics in Jerusalem, and also by the United Nations Refugees World Agencies (UNRWA) with respect to the refugee camps.The population we have studied, therefore, is limited to the Palestinians of East Jerusalem and the West Bank refugee camps, and corresponds to about one-third of the entire Palestinian population of the area. However, it does include both an urban setting (East Jerusalem) as well as a rural one (the refugee camps), and both Moslems and Christians, so it can be safely considered as representative of the entire Palestinian population. As for the period considered, we elected to limit our survey to the five-year period 1984-1988 because the records for then are considered to be more reliable than they had been previously, when little, if anything, was known on statistics, particularly on twin statistics relating to the West Bank population.
Acardius in a Triplet Pregnancy: Cytogenetic and Morphological Profile
Authors: Bolaji I.I. , Mortimer G. , Meehan F.P. , England S. , Greally M. 
Published: July 2016

AbstractWe describe a rare case of acardius in a triplet pregnancy terminated by Caesarean Section at 32 weeks gestation. Morphological and chromosomal abnormalities of the fetus as well as structural abnormalities of the placenta are presented. Cytogenetic analysis and examination of the single disc triplet placenta provide evidence for the two major theories of pathogenesis of acardius, the twin reversed arterial perfusion (TRAP) sequence and the genetic theory, which we believe are not necessarily mutually exclusive.
How Frequent Is Heteropaternal Superfecundation?
Authors: Wenk R.E. , Houtz T. , Brooks M. , Chiafari F.A. 
Published: July 2016

AbstractA newly discovered case of heteropaternal superfecundation (HS) is reported. Three HS cases were found in a parentage test database of 39,000 records. The frequency of HS among dizygotic twins whose parents were involved in paternity suits is 2.4%. Although the study population appears similar to the general population with respect to twinning data, inferences about the frequency of HS in other populations should be drawn with caution.
Childhood Behavior Problems: A Comparison of Twin and Non-twin Samples
Authors: Gau J.S. , Silberg J.L. , Erickson M.T. , Hewitt J.K. 
Published: July 2016

AbstractThis study compares standardized measures of childhood behavior problems in a community-based twin sample with those for normative samples from the general population. Maternal parent ratings on the Child Behavior Checklist (CBCL) for 1824 twins were compared with the CBCL normative sample. The results indicated that twins showed small but consistently higher levels of problem behaviors. These elevations were significant for older children on both internalizing and externalizing behaviors; for younger children the elevations were significant for externalizing but not internalizing behaviors.
Iatrogenic Influences on the Heritability of Childhood Tonsillectomy: Cohort Differences in Twin Concordance
Authors: Martin N.G. , Kehren U. , Battistutta D. , Mathews J.D. 
Published: July 2016

AbstractIn 1980-82, a mailed questionnaire was completed by 3,810 pairs of adult twins enrolled on the Australian NH&MRC Twin Register. Twins were asked whether they had had their tonsils out and, if so, at what age. The sample was divided into four birth cohorts of approximately equal size, and only childhood tonsillectomy (to the age of 18) was considered. The prevalence of tonsillectomy differed markedly between cohorts, being highest in those born in the 1940s and early 1950s. Within each cohort, the prevalence was very similar in MZ and DZ twins, yet concordance was much higher in MZ twins, indicating the importance of genetic factors in predisposition to tonsillectomy. However, the proportions of variance in liability due to genetic and shared environmental factors differed markedly between cohorts. In the 1950s, when tonsillectomy was fashionable, shared environment accounted for 60% of variance and genetic factors for only 29%. However, by the early 1960s, when tonsillectomy was going out of fashion, heritability was up to 0.82 and shared environment accounted for only 10% of variance. Our results illustrate, once again, that heritability is not a constant, but depends on the precise characteristics of the population and the time at which it is studied.
Congenital Anomalies in Twins in Northern Ireland. I: Anomalies in General and Specific Anomalies Other Than Neural Tube Defects and of the Cardiovascular System, 1974–1979
Authors: Little J. , Nevin N.C. 
Published: July 2016

AbstractData are presented from a large-scale population-based study in Northern Ireland, in which multiple sources of ascertainment were used. As found in other studies, the overall prevalence at birth of congenital anomalies amogst twins (285.4/10,000) was somewhat higher than the rate amongst singletons (241.8/10,000). Unlike in other studies, however, the rate amongst twins of like sex (287.8/10,000) was not markedly higher than that amongst twins of unlike sex (252.3/10,000). Problems of comparison between series are discussed.
Intrapair Facial Differences in Twins
Authors: Burke P.H. 
Published: July 2016

AbstractAnnual serial records in the form of facial contour maps were examined for 18 like-sexed twin pairs of near equal zygosity distribution. Zygosity diagnosis was based primarily on hematological reports for 26 of the 36 children and the remainder were diagnosed on a basis of the concordance or discordance of various physical characteristics: standing height, finger print ridge count, tooth size, and hair and eye colour. Thirteen facial parameters were measured on 274 maps. After age correcting and theree-point smoothing, more than 1,150 intrapair differences of individual facial parameters were measured. In general, the dizygotic twin pairs had the larger mean intrapair differences in facial parameters and the monozygotic twin pairs had the smaller intrapair mean differences. The more important facial parameters for distinguishing the two groups were identified and used to calculate a “facial similarity index”.
Fertility in Twins
Authors: Steeno O. , Vlietinck R. 
Published: July 2016

AbstractFrom the 474 twins born in 1950 in 100 Flemish cities and towns in Belgium, 85% reached the age of 20 yr, against 37% in Austria a hundred years ago. More female than male twins are married (P = 0.03), in particular nonidentical female twins (P = 0.02). Fertility seems to be lower in male, especially male-male twins (P < 0.03), and most strikingly so in identical male twins (P = 0.05). There seems to be no influence of premature birth or low birthweight.
Mortality and Morbidity among Twins: Recent Observations from the United States
Authors: Keith L. 
Published: July 2016

AbstractThe increasing number of twin (and higher order) births is a matter of national concern for two reasons: First, the differential rates of preterm (< 37 weeks) delivery and low birthweight (< 2,500g) among twins compared to singletons; and second, the inordinate contribution of these infants to overall infant mortality, morbidity and long-term handicap. Data from all births in the U.S. during 1987 and 1988 was used to calculate distribution frequencies for gestational age at delivery, and birthweight, as well as mortality and handicap rates and the corresponding relative risks of these latter events for twins compared to singletons. A suggestion for improvement in the mortality and handicap rates and reduced costs among survivors is presented. This proposal is based upon data from the singleton and twin literature and the use of the prenatal invervention of adequate maternal nutrition during the pregnancy.
Difetti del Tubo Neurale in Gravidanze Gemellari
Authors: Capra V. , Vigliarolo M.A. , Levato G.L. , Lavia N. , Piatelli G.L. , Cama A. 
Published: July 2016

AbstractPresso il Reparto di Neurochirugia Pediatrica dell'Istituto G. Gaslini di Genova sono seguiti circa 500 bambini con difetti di chiusura del tubo neurale di cui 9 pazienti sono nati da gravidanza gemellare: 2 gravidanze erano trigemellari (1 triplacentare, tricoriale e triamniotica e 1 biplacentare, bicoriale); le altre 7 sono state riferite come bicoriali, biplacentari in 4 casi, monocoriale e mono placentare in 1 caso monocoriale monoplacentare e monamniotica in un altro e nell'ultimo caso non si hanno informazioni. Il dato importante da sottolineare è che in questi pazienti, un solo gemello è affetto, cioè esiste discordanza fenotipica tra i gemelli. In un solo caso l'altro gemello presentava malformazioni: ano imperforato ed anomalia dello sbocco uretrale. Si pensa che una separazione tardiva dei due zigoti sia accompagnata da un maggior rischio di sviluppo di malformazioni, non necessariamente espresse in entrambi. Un'ineguale divisione del-l'embrione potrebbe essere responsabile di una più alta suscettibilità ad influenze distruttive di uno dei gemelli, risultandone uno sviluppo asincrono con differenti effetti teratogeni. Questi pazienti presentano difetti di chiusura del tubo neurale a vari livelli: 3 cefaloceli occipitali, 5 mielomeningoceli, (1 lombare, 2 lombosacrali, 2 sacrali) e 1 li-pomeningocele lombosacrale. Per quanto riguarda la storia della gravidanza si è verificato un aborto spontaneo di un gemello al 3° mese e in un altro caso la gemella è nata morta. In tre gravidanze è stata riferita l'assunzione di farmaci durante il 1° trimestre ed infezione da toxoplasma nel 11° trimestre in un caso. In una sola famiglia è stata riportata incidenza di malformazioni non precisate in collaterali ed in una anamnesi veniva rifeirito un parente affatto da tumore gastrico prima di 35 anni. Dei 9 gemelli affetti, 3 femmine e 6 maschi, in sei casi sono dello stesso sesso e l'altro gemello risulta essere sano, nonostante l'ipotesi che i gemelli dello stesso sesso siano più facilmente monozigoti e quindi con maggior rischio che la stessa malformazione sia presente in entrambi.