bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fetal and Neonatal Arrhythmia in One of the Twins - a Case History
Authors: Czeszyńska M. B. , Węgrzynowski J. , Czajkowski Z. , Dawid G. 
Published: July 2016

AbstractThere are a lot of publications about fetal arrhythmia in singletons, but up to now there are no published data about fetal arrhythmia in multiple pregnancies. In the present study a case history of fetal and neonatal arrhythmia in one of twins from two mothers treated with betamimetic agents due to imminent preterm labor is reported and discussed. A first case with fetal bradycardia due to complete A-V block had congenital cordis abnormalities (VSD and PFO). The second case with prenatal detected extrasystoles had normal heart anatomy. Digoxin was administered to the mother, in the aim to treat fetal arrhythmia without success, because the baby had postnatal bradycardia. After hospitalisation in Cardiology Department the described cases were successfully treated. In both cases the second twins were without neonatal arrhythmia and with no structural heart abnormalities. We summarise that in situation of detection fetal arrhythmia the complexity of the problems experienced may warrant early referral to a tertiary centre where the overall management of the mother, fetus and neonate, may be undertaken.
Ultrasound in the Diagnosis of Twin-to-Twin Transfusion Syndrome – a Preliminary Report
Authors: Ropacka M. , Markwitz W. , Ginda W. , Bręborowicz G. H. 
Published: July 2016

Objective.The aim of this study was to show the diagnostic possibilities of ultrasound in twin-to-twin transfusion syndrome (TTTS), to demonstrate its usefulness in cases of hemoglobin difference < 5 g/dL in neonates as well as in cases complicated by intrauterine death of one or both twins.Study design.The study included 4 pairs of twins. In two cases 3 fetuses died in utero. In the other two the hemoglobin difference in newborn infants was < 5 g/dL. The ultrasound examination, evaluating the fetal anatomy and biometry, amniotic fluid volume, placentation, was performed. The special attention was paid to polyhydramnios/oligohydramnios, discordant fetal growth (fetal weight, abdominal circumference), the presence of fetal hydrops, ascites, pericardial effusion. Doppler blood flow velocimetry has been done in umbilical vessels, middle cerebral artery. The data was compared with normal reference values for singleton pregnancies. The waveforms from both uterine arteries were also evaluated to exclude placental insufficiency. Additionally the blood flow through the AV valves was measured to exclude or confirm its regurgitation. Postnatally the hemoglobin difference was evaluated if available and compared with sonographic findings.Results.In all cases inter-twin difference in abdominal circumference was greater than 18 mm and inter-twin weight difference of more than 15%. We observed polyhydramnios/oligohydramnios in all twin pregnancies.It has been found decreased PI in middle cerebral artery in larger fetus (recipient) in all our cases (comparing to single pregnancy). PI values for this vessel in smaller fetuses were within normal range (for single pregnancy). PI values in umbilical arteries of recipients were abnormal (increased PI or absent end-diastolic flow).Comments.The sonographic criteria seem to be very useful in diagnosis of twin-to-twin transfusion syndrome, especially in cases where the measurement of hemoglobin level is impossible. Doppler blood flow velocimetry in fetal vessels helps to explain the changes in fetal hemodynamics in TTTS.
Yearly Changes in Stillbirth Rates of Zygotic Twins in Japan, 1975-1994
Authors: Imaizumi Y. , Nonaka K. 
Published: July 2016

AbstractThe stillbirth rates decreased to 2/3 for MZ male twins, 1/2 for MZ female twins, and under 1/2 for DZ twins for both sexes during the 19-year period from 1975 in Japan. The stillbirth rate was significantly higher in MZ males than MZ females in each year, whereas stillbirth rates of DZ twins for both sexes indicated similar values during that period. After 1986, stillbirth rates were more than 2 times higher in MZ twins than in singletons and in DZ twins. The higher stillbirth rate of MZ twins as opposed to DZ twins could be related to monochorionic twin pairs in MZ twins. The stillbirth rate decreased more drastically in twins for both zygosities than in singleton births during the 34-year period from 1960. However, declining rates of stillbirths may be attributed to medical care during twin pregnancies. Recommendation of an optimum day to give birth for twin pregnancy is 37-38 weeks for Japanese women.
Tre Coppie di Gemelle in Tre Generazioni Successive Nate da Madri Gemelle
Authors: Andreano G. , Dobosz M. , Boschi I. , Ruscitti L. E. , Liberti A. , Casa D. 
Published: July 2016

AbstractIt is generally held that there are genetic factors for dizygotic (DZ) twinning, but the pattern of inheritance is far from clear.We report on a rare pedigree with three sets of spontaneous DZ female twin births in three successive generations. To our knowledge no similar pedigrees have been reported in literature.Zygosity determination in three pairs of twins was performed with ABO, MN and Rh blood groups from erythrocytes and with STR analysys from samples of saliva.In our pedigree, the direct trasmission of the DZ twinning through the maternal line seems show an autosomal dominant pattern of inheritance. We believe that the inheritance of DZ twinning appears to be recessive in most case and autosomal dominant only in rare instances. It is plausible with the hypothesis that the expression of the dizygotic twinning trait in a mother shows a genetic heterogeneity.
Breve Storia del Metodo Gemellare 2 - Le Attuali Formulazioni del Metodo
Authors: Lorenzi F. 
Published: July 2016

Il termine LISREL e l'acronimo di LInear Structural RELationship ed è nato inizialmente come nome di un software messo a punto dallo svedese Karl Joreskog e dai suoi collaboratori nei primi anni '70 per stimare, col metodo della massima verosimiglianza, i coefficienti strutturali dei modelli basati su sistemi di equazioni strutturali.Tali modelli, nella elaborazione tramite il LISREL, rappresentano la sistemazione logica, prima ancora che statistica o computeristica, di tecniche di analisi multivariata le cui prime proposte risalgono all'ininzio del secolo; riconducendo ad un unico modello che ne costituisce una geniale sintesi, approcci ed itinerari scientifici fino ad allora distinti e non comunicanti, quali l'analisi fattoriale, i modelli causali e i modelli di misurazione. In particolare rappresentano in questo momento la più completa e sistematica risposta al problema di operazionalizzare in termini di ricerca e di verifica empirica, nel campo delle scienze sociali, la controversa, ma non per questo meno fondamentale, nozione di causalità. Essi sono quindi la reinterpretazione, sistemazione e soprattutto generalizzazione di quelli che negli anni '60 venivano chiamati i modelli causali e che nella prima metà degli anni '70 avevano conosciuto una notevole popolarità fra i sociologi soprattutto attraverso la tecnica della path analysis.
Breve Storia del Metodo Gemellare
Authors: Lorenzi F. 
Published: July 2016

I gemelli sono i rappresentanti di un'eccezione biologica della specie umana, di un avvenimento fuori dal consueto, per cui il parto della donna non dà origine ad un nuovo essere, ma a due o più rappresentanti della specie. Questa eccezione è così evidente e caratteristica che non ha mancato, come non manca, di impressionare l'intelligenza e la fantasia dell'uomo presso ogni popolo e in ogni epoca della storia.Anche il sapere medico, prima ancora che si organizzasse in scienza, ha fermato la sua attenzione sul fenomeno della gemellanza cercandone la causa e le applicazioni.Secondo la scienza Talmudica la nascita dei gemelli è dovuta al fatto che una goccia di sperma si è divisa in due parti. Del pari Ippocrate ritiene che il concepimento gemellare avvenga per la bipartizione dello sperma e ciascuna parte penetri in una delle due corna dell'utero. Nell'antichità classica il fenomeno della gemellarità fu riportato al caso delle formazioni doppie dovuto, secondo Empedocle, ad un eccesso dello sperma emesso in una sola volta, dovuto invece, secondo Democrito, allo sperma emesso in più volte, ad ognuna delle quali corrisponderebbe un embrione.Secondo Aristotele invece, le mostruosità doppie «sarebbero originate da un fenomeno di concrescenza per il quale due embrioni, dapprima separati, vengono a fondersi parzialmente, in modo da costituire una sola formazione, nella quale però sono riconoscibili le due componenti».Galeno sembra accettare l'ipotesi di Empedocle, aggiungendo tuttavia che il calore eccessivo dell'utero possa dividere il seme in più parti, donde originerebbe formazioni doppie, triple, ecc… Plinio non aggiunge nulla di nuovo alle idee dominanti e si limita a fornire descrizioni più o meno esaurienti di gravidanze multiple.
Bioethical Considerations on Cloning and Twinning
Authors: Milani-Comparetti M. 
Published: July 2016

The subject of cloning has had a deep impact on both public opinion and the scientific community, asking themselves about its meaning, its possible extension to humans, its potential applications and implications.Cloning was often presented by the media as a technique that would allow perpetuating oneself.The resulting impact of cloning on public opinion might be interpreted, in part at least, as making real the dream of reincarnation.In the Christian faith cloning, as a hypothesis of reincarnation, has no place, since the soul is already immortal, while the body dies (excepting its reunion with its soul on the resurrection of the last day).Thus a person's immortality is a dogma of faith for the believer, but only as immortality of the soul, that will rejoin its body only at the end of earthly time, while in our “earthly time” the body is-mortal.The body's mortality is part of natural biological processes. Only in primitive organisms, such as bacteria, and in organisms reproducing through scions or similar processes (as farmers and florists well know) it is harder to set a definite moment for the birth or death of a single individual. But in sexually reproducing higher organisms, such as we are, the cycle of individual life is clearly encompassed and expressed by the well-known sequence whereby each individual “is born, grows, reproduces and dies”.If we consider the individual in all its manifestations – what we geneticists call the “phenotype”, resulting from the interactions between genotype and environment – each subject is undoubtedly endowed with his individuality.The repetition of the very same genotype does not mean repetition of the same individual, as clearly evidenced by the observation of identical twins (monozygotic, i.e., both derived from the same fertilized egg, the zygote) who, much as so closely resembling each other, are each endowed with his or her unique individuality.
Rising Trizygotic Triplet Rates in Japan, 1975-1994
Authors: Imaizumi Y. , Nonaka K. 
Published: July 2016

AbstractZygosity of triplet births in Japan was estimated by Allen's equation with the assumption that the rate of dizygotic (DZ) triplets reflects that of twins. Whereas the DZ triplet rate increased during the period from 1975 to 1994, reflecting the increase in the DZ twinning rate in the period, monozygotic (MZ) triplet rates remained constant from 1975 (28 per million births) to 1994 (23). The trizygotic (TZ) triplet rate gradually increased from 1975 (18) up to 1985 (29), and rapidly increased thereafter to 1994 (202). The higher TZ triplet rate since 1986 is most likely attributed to the higher proportion of mothers treated with ovulation-inducing hormones and partially toin-vitrofertilization in Japan. As for maternal age, MZ triplet rates remained nearly constant for all the maternal age groups except the youngest and the oldest ones. On the other hand, TZ triplet rates increased up to the age group of 30-34 years and decreased thereafter in almost every year. The TZ rate in the age group of 30-34 years slowly increased from 1975 to 1988 (63 per million births) and rapidly increased thereafter (314 in 1994). The TZ rate was statistically significantly higher in the period 1986-1994 than in the period 1975-1985 in each of the nine districts in Japan. Geographical variations in the TZ rates in the latest period have drastically changed from those during the period from 1955-1959 and in 1974.
High Rate of Twins among Offspring of Mothers with the Järvi-Hakola-Nasu Disease and with Comments on Disorders Associated with Twinning
Authors: Hakola H. P. A. , Eriksson A. W. 
Published: July 2016

AbstractFinnish mothers with Järvi-Hakola-Nasu disease, progressive dementia with lipomembranous polycystic osteodysplasia (McKusick 221770) have a high rate of twin maternities, 128.2/1000. The exact 99% confidence intervals are 28.7 – 322.2/1000, thus above the average twinning rate in Finland, i.e. 15/1000. This eightfold increase in twinning may be an indication of a disturbed cortico-hypothalmic-hypophyseal axis or an other premorbid hormonal imbalance. It is concluded that even if dizygotic twinning is as a rule an event in itself, not only iatrogenic factors, as ovulation inducers, etc., but also some genetic disorders may be associated with twinning. More studies are needed to elucidate the incidence of twinning in families with these disorders.
Earnings and Schooling: an Overview of Economic Research Based on the Australian Twin Register
Authors: Miller P. , Mulvey C. , Martin N. 
Published: July 2016

AbstractThis paper reviews four economic studies of aspects of earnings and schooling conducted by the authors using data from the Australian Twin Register. First, estimates of the economic returns to schooling made using fixed effects and selection effects regression models incorporating an instrumental variables approach to correct for measurement error in self-reported schooling levels are examined. The finding is that up to 30 per cent of the estimated return to schooling may be due to family effects and the remainder to pure educational effects. Second, comparisons are made between the economic model of Ashenfelter and Krueger (1994) and that of DeFries and Fulker (1985) and the results obtained from each are shown to be similar. Third, gender differences in returns to schooling are estimated and family effects are found to be a more important influence in the case of males. Fourth, the influence of family effects on educational attainments is considered and it is found that around one-half of educational attainment is accounted for by genetic inheritance and up to another quarter due to shared environment effects.
Pediatric Hepatology: Present and Future
Authors: Zancan L. 
Published: July 2016

Pediatric Gastroenterology was born as specialism within Pediatrics during the 1960s, and its younger sister, Hepatology, gradually acquired respect as an autonomous field early in the 1970s, with the formation of the Pediatric group for Gastroenterology, and more recently in 1992 with the creation of the Italian Society for Pediatric Gastroenterology and Hepatology in the Italian Society of Pediatrics. My aim in this paper is to review the most significant developments that have taken place in Pediatric Hepatology over the past decade, and to indicate how the field is likely to develop in the future. I will make particular reference here to HBV infection, cholelithiasis, extrahepatic biliary atresia, and liver transplants.In Italy, this remains one of the most common causes of chronic hepatitis in children. (HCV infection in children without an underlying illness is still uncommon). Since the 1960s, we have gained an understanding of the risk factors, pathogenesis and natural history of infection, and an awareness of the strong tendency for the condition to become chronic in children. Moreover, with the increase in knowledge of the biology of the virus, an efficacious programme of preventive medicine has been implemented, which 3 years ago culminated in obligatory vaccination for newborns and 12-year-old children. These measures have resulted in a change in the epidemiology of the infection, which is now found above all in foreign children residing in Italy, who have been usually adopted.Over the last 10 years, the phenomenon of international adoption represents a new socio-sanitary reality in the industrialized countries. A number of important studies report that, more than 50 percent of foreign children adopted present serious medical condition (irrespective of the area of the world from which they come, be it Asia, Africa, South America, or Eastern Europe). If routine screening is not carried out, these disorders go undetected by medical tests performed in the children's countries of origin, as well as by medical examinations carried out in their adoptive countries [4]. The most frequent diseases are infections, and amongst these HBV infection, besides TBC and CMV infection, making those children in whom such infections go undetected veritable spring of disease [3].
Prenatal Ultrasound Diagnosis of Cystic Hygroma Occurring in Twin Pregnancies
Authors: Malinowski W. , Biskup I. 
Published: July 2016

AbstractOur study reports five cases of prenatal ultrasound diagnosis of nuchal cystic hygroma and early diagnosis for both fetus and mother.We observed that nuchal cystic hygroma is frequently associated to cytogenetic abnormalities, congenital structural anomalities and non-immune hydrops fetus universalis.
The Search for Molecular Defects in Genetic Disease
Authors: Galjaard H. 
Published: July 2016

In most wealthy industrialized countries, socioeconomic circumstances, hygiene and medical care have improved to such an extent that perinatal complications and congenital disorders have become the major causes of infant mortality and of chronic handicap in children [1].In the past four decades, we have made impressive advances understandig the cytogenetic and molecular basis of congenital disorders. Dozens of syndromes associated with multiple physical handicaps and mental retardation have been related to specific numerical or structural chromosome aberrations. In situ hybridization and the development of a rapidly increasing number of DNA probes enable the detection of chromosomal abnormalities with a resolution down to the level of a single gene. The discovery of tumor-associated chromosomal aberrations, microdeletions, more than a hundred oncogenes, and the cloning of tumor suppressor genes are illustrations of the importance of molecular cytogenetics.When I started my scientific career at the end of the fifties, some 1,000 syndromes were proven or suspected to be subject to Mendelian inheritance and this number has now increased to more than 6,600 [2]. Progress in elucidating the protein defects responsible for these single gene disorders has been much slower and currently about 400 protein defects have been delineated [3]. This knowledge has been important not only for basic research on biochemical pathways and cell biology, but has also provided new perspectives for early laboratory diagnosis of index patients, carrier detection, genetic counseling and in some instances, such as phenylketonuria, for newborn screening and early treatment [4]. In those instances where a protein defect is also expressed in cultured skin fibroblasts, amniotic cells or chorionic villi, prenatal diagnosis becomes possible for couples at increased risk [5, 6].
Phenotype-Karyotype-Genotype Correlations in Prader-Willi and Angelman Syndromes: Preliminary Results
Authors: Cecconi A. , Halley D.J. , Salvi A. , Balestrieri C. , Lapi E. , Lenzi S. , Ricci U. , Uzielli M.L. Giovannucci 
Published: July 2016

Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are well established as models of Genomic Imprinting in humans, since completely different phenotypes are generated by the absence of paternal (PWS) or maternal (AS) contribution to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. We report a preliminary study based on our experience of more than 20 years of research into the genetics of PWS and AS syndromes.Thirty nine subjects, referred from a number of Centers and Medical Doctors have been examined to either confirm or rule out a diagnosis of PWS or AS.Patients were evaluated through the Clinical Genetics and Dysmorphology Program at the Human Genetics Center, Dept. of Paediatrics, University of Florence.Clinical evaluation showed that 10 of these patients fulfilled diagnostic criteria for PWS and 8 for AS.All patients were isolated cases and the 18 nuclear families were unrelated.We adopted the staged diagnostic approach for all our families diagnosed PWS or AS families, moleucular using cytogenetic, genetic and molecular cytogenetic techniques.
Molecular and Clinical Studies of Polish Patients with Prader-Willi Syndrome
Authors: Szpecht-Potocka A. , Obersztyn E. , Karwacki M. , Bocian E. , Bal J. , Mazurczak T. 
Published: July 2016

AbstractA group of 30 patients clinically described as having the Prader-Willi Syndrome (PWS) were studied using microsatellites from 15q11-13 and methylation analysis with probe PW71B (D15S63). The patients were categorized according to clinical symptoms. 80% of all patients were informative using molecular and cytogenetic methods. Among 8 patients with an atypical PWS phenotype, 2 showed uniparental disomy, and 2 had a mosaic deletion for 15q. The last 4 atypical and 2 typical patients had neither molecular defects confirmed by microsatellite analysis nor a parent-of-origin-specific methylation pattern for PWS. Our results confirm that methylation pattern analysis provides an additional and alternative microsatellite analysis to diagnose PWS.
Analysis of Triplet Repeats of the FRAXA Locus Using a Novel Sequencing Procedure
Authors: Barlati S. , Belletti L. , Gardella R. , Ferraboli S. 
Published: July 2016

Recent reports have shown that in normal alleles, the CGG repeat at the FRAXA locus is interrupted by one or two AGG and that abnormal alleles seem to be generated by expansion of pure CGG repeats at the 3′ end [1].It is therefore important to establish rapid, simple and low-cost sequencing procedures for determining not only the number of CGG repeats but also the presence of AGG triplets.A one-lane sequencing procedure with PCR-amplified DNA, labelled at the 3′ or 5′ end with a single fluorochrome, has been recently developed in our laboratory [2, 3]. This methodology is particularly suitable for detecting mutations in family studies [4] and has been applied to the analysis of the sequence of triplet repeats at the FMR1 gene after PCR amplification, using one of the two primers fluorescently labelled at the 5′ end.The sequence of the primers utilised in the PCR reaction is reported by Erster et al. [5]. The direct primer was fluorescently labelled at the 5′ end with 5-(6)-carboxyfluorescein (Fluoreprime, Pharmacia) and synthesised using an ABI 391 PCR-Mate-EP DNA synthesiser. The PCR amplification was performed on 0,5 ug DNA in a 50-μ1 PCR buffer containing 10% DMSO, 10% glycerol, 25 pmol of the two primers, 0,3 mM dNTPs and 1 U Taq DNA polymerase.Each sample was submitted to amplification on a Perkin Elmer 9600 PCR reactor, with the following cycling profile: 5 min at 95 °C, 30 cycles of 30 s at 97 °C, 1 min at 55 °C and 1 min at 72 °C, followed by a 10-min terminal extension at 72 °C. After precipitation with 5 M ammonium acetate, the pellet was dissolved in 80% (vol/vol) formamide and aliquots were heated for 2 min at 90 °C or, alternatively, for sequence analysis, for 10 min at 110 °C. The samples were loaded on 6 or 8% PAGE sequencing gels and analysed using an ABI 373A automatic sequencer as previously described [2].