bluuebunny/crossref_metadata_2025 huggingface dataset:
Is Genomic Imprinting Involved in the Pathogenesis of Hyperdiploid and Haploid Acute Lymphoblastic Leukemia of Childhood?
Authors: Haas O.A.
Published: July 2016

Hyperdiploidy with a chromosome number between 51 and 65 and a mean peak at 55 occurs as a distinct karyotype pattern in approximately 25-30% of ALLs in childhood [1, 2]. It is considered a favorable prognostic factor. The most intriguing cytogenetic peculiarities of these leukemias are the nearly exclusive presence of nonrandom numerical abnormalities due to the gain of chromosomes 4, 6, 10, 14, 17, 18, 20, 21 and X [1, 2]. In contrast, chromosomes 1, 2, 3, 12 and 16 are rarely involved [1, 2]. Typically, the affected chromosomes are present in three copies, with chromosome 21 also often being tetrasomic.

Near-haploid cases, on the other hand, are extremely rare and have a bad prognosis [1, 2]. They contain at least one copy of each chromosome, a second copy of one of the sex chromosomes and both chromosomes 21 in most instances. In addition, two copies of chromosomes 10, 14 and 18 are commonly found.

In the majority of cases of hyperdiploid ALL, the mechanism leading to the increased number of chromosomes is unknown. However, once formed, the abnormal karyotype is uniform and stable in the malignant cell population. Molecular genetic studies performed by Onodera et al. [3] revealed that the hyperdiploid karyotype usually arises by a simultaneous event during a single abnormal cell division from a diploid karyotype. Occasionally, this can also occur by doubling of the chromosomes from a near-haploid karyotype [4]. In virtually all cases, tetrasomy of chromosome 21 was generated by a duplication of both the maternally and paternally derived homolog. This finding was one of the main arguments for the notion that hyperdiploidy cannot be caused by stepwise or sequential gains from a diploid karyotype or by consecutive losses from a tetraploid karyotype.
No Evidence for Genomic Imprinting in Liver-Born Down Syndrome Patients
Authors: Stoll C. , Alembik Y. , Dott B. , Feingold J.
Published: July 2016

Despite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. We have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA plymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases.

The phenotype of Down svndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin.

We conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.
3-M Syndrome Clinical Phenotype is Still the Only Mean for Prenatal and Postnatal Diagnosis
Authors: Lapi E. , Cecconi A. , Uzielli M.L. Giovannucci , Salfi N. , Guarino L.
Published: July 2016

In 1975, Miller, McKusick, Malvaux et al. reported a new form of low-birth weight dwarfism with normal intelligence, later called 3-M syndrome (after the initials of the first three authors). As of 1994 about 30 cases have been reported from different ethnic groups. The recurrence of the syndrome in sibs, with normal parents, provides evidence for an autosomal recessive disorder (MIM *273750). Diagnostic criteria are: prenatal onset dwarfism, dolicocephaly, joint hypermobility, slenderness of the shafts of the long bones and ribs and foreshortening of lumbar vertebral bodies, abnormal small pelvis, short femoral necks and vertical talus.

We report the occorrence of 3-M syndrome in two new unrelated families; the long follow-up offers important subjects for discussion.

In the first family the proposita at birth showed a Larsen-like phenotype with flat face, very short stature and generalized joint hypermobility. The clinical aspects greatly changed in the years and we were able to give the diagnosis of 3-M syndrome when she was 15 years old.

In the second family the propositus was a boy, showing obvious features since his birth: mild joint hypermobility, omphalocele, bilateral inguinal hernia and macrocephaly. At the age of 7 years the phenotype is still highly significant.

Two subsequent fetuses in the same sibship have been demonstrated affected by 3-M syndrome. The diagnosis was made after the 20th gestation week by means of ecography, and was confirmed after the termination, by both clinical and X-ray examination. Fetal parameters were not significant in the earlier stages of gestation. Of special interest are some-radiological aspects in both parents, whose stature is in the low normal range.

A search in the church registry, going back to 1704, revealed no parental consanguinity, but the same family name is present in both paternal and maternal pedigrees.
Late Cytogenetic Changes after Treatment of Malignancy
Authors: Koblík J. , Demočková J.
Published: July 2016

A 30-year-old man with azoospermia was routinely investigated in the Department of Clinical Genetics at our hospital. His karyotype was analysed after phytohaemagglutinin stimulation of lymphocytes following short-term cultivation of peripheral blood.

Taking his history, it was ascertained that in childhood, Hodgkin's disease had been confirmed histologically. He began treatment at 7 years, receiving several series of combined cytostatic treatment supplemented with X-ray therapy. The patient's history is summarized in table 1.

For the last 14 years, the patient has felt well. He is not taking medication and has no problems with primary disease. He is examined by an oncologist twice a year (including scintigraphy) with negative findings. He has no complications, except for azoospermia.

The karyotype was analysed using standard methods. The chromosomes were stained by Giemsa following G-banding by the trypsin method.
Diagnosis and Prevention of Fragile-X Syndrome. From the Family Study to the Population Screening Programme: Eighteen Years of Activity
Authors: Uzielli M.L. Giovannucci , Guarducci S. , Cecconi A. , Lenzi S. , Ricci U. , Balestrieri C. , Petrocelli P. , Lapi E.
Published: July 2016

Fragile-X syndrome, which derives its name from the expression of a fragile site (FRAXA) at Xq27.3 associated with the phenotype, has achieved distinction as the most common inherited cause of mental retardation. It is the first disorder shown to be due to dynamic mutation in heritable instable DNA.

In 1991 the mutation responsible for Fragile-X syndrome was delineated as an expansion of the trinucleotide (CGG) sequence within an evolutionarily conserved gene, at the position of the fragile-X site.

The DNA of the promoter in the 5' UTR region of FMR-1 gene becomes abnormally methylated when the CGG sequence exceeds approximately 230 repeats, resulting in the transcriptional suppression of FMR-1. Based on the length of CGG repeat in the FMR-1 gene, the alleles are usually classified as normal, premutation or full mutation. CGG instability correlates with the length of repeats and number of AGGs within the FMR-1 CGG tract. In a minority of cases the Fragile-X syndrome may be due to deletion, or to point mutation in the FMR-1 gene.
Sad Fetus Syndrome - Gestational Trophoblastic Disease Concurrent with a Living Fetus or Fetuses
Authors: Malinowski W. , Biskup I. , Dec W.
Published: July 2016

The term gestational trophoblastic disease is used to indicate a group of both benign and malignant trophoblast, including molar degeneration of villi, hydatid mole, invasive mole and choriocarcinoma.

This study shows a new classification of trophoblastic disease existing with a living fetus or fetuses. Benign hydatid mole is the initial stage of the disease continuum, whereas highly malignant choriocarcinoma is the final stage of this spectrum.
Ovarian Hyperstimulation Syndrome May be More Likely if Multiple Pregnancy Occurs Following Assisted Conception
Authors: Mathur R. S. , Joels L. A. , Jenkins J. M.
Published: July 2016

Whereas modern assisted conception with such techniques as in vitro fertilisation now helps many subfertile couples to fulfil their ambition to have a child, it has not been without a price. The increased incidence of multiple pregnancies, with their attendant maternal and perinatal sequelae following assisted conception is well known, but perinatologists may be less familiar with the Ovarian Hyperstimulation Syndrome (OHSS) which is the other major complication when controlled ovarian hyperstimulation is used during assisted conception treatment. Mild forms of OHSS are common and require no more than symptomatic treatment. Severe forms of OHSS are uncommon occurring in 0.6% to 14% of IVF cycles [15, 5], but are nonetheless very important to identify as they may lead to thrombo-embolic disease, cardiorespiratory dysfunction, renal failure and even death [6]. This review considers whether OHSS may be related to multiple pregnancy by reviewing the available literature and local experience.
The Strange Coincidence of Gregor Mendel and Louis Pasteur: Both Scientific Geniuses Were Born in 1822
Authors: Gedda Luigi
Published: July 2016

This year, the French are commemorating the centenary of the death of their distinguished countryman Louis Pasteur, chemist and bacteriologist. Yet few people in France or elsewhere will be aware of a fact which I recently discovered: Louis Pasteur and the Czech geneticist Gregor Mendel were born in the same year - 1822. That Pasteur and Mendel are exact contemporaries is a most significant coincidence, for their respective careers symbolize the parallel and contiguous development of medical and genetic knowledge in the nineteenth century. This in turn paved the way for man to discuss, investigate, increase and spread understanding of human reproduction, disease and life-span, and to utilize scientific understanding of these subjects to increase the well-being of mankind in the twentieth century. Indeed, the human relevance of these biomedical discoveries caused them to eclipse those of other branches of knowledge in this century.
Heredity and Environment in Phoneme Articulation: Hereditary and Environmental Contributions to Articulation Proficiency
Authors: Dixon W. E. , Matheny A. P. , Mohr S. R.
Published: July 2016

Large twin samples and recent applications of multiple regression techniques to behavioral genetics methodology makes possible evaluation of genetic and environmental contributions to the articulation proficiency of individual phonemes. Factor analysis of the articulation scores from 256 MZ and DZ twins and 124 of their non-twin siblings (all children ranged from 2; 11 to 9; 8 years) were conducted to reduce a 50-item articulation test to a more manageable set of five articulation factors. The twins' factor scores were then analyzed using multiple regression procedures to determine the extent to which the individual factors resulted from genetic and/or environmental influences. The /r/ and /∫, t∫, dƺ/ factors were found to have strong genetic components, while the /l, j, w/ factor was found to be strongly influenced by environmental sources of variation.
Problématique de l'Activité Cognitive des Jumeaux
Authors: Bak F.
Published: July 2016

Cette étude nous a permis de mettre à jour les différents modes d'intéractions qu'une mère établit avec ses jumeaux, ainsi que les évolutions possibles qui en résultent. Mais, bien plus, nous avons modélisé la façon dont les jumeaux élaborent leurs structures de l'activité de connaissance en fonction des sollicitations du milieu, ainsi que l'interdépendance qui les caractérisent.

Grâce à des examens opératoires, réalisés sur une population de 14 couples âgés de 6 a 10 ans, nous avons mis à jour un décalage intra-couple au niveau de la genèse de ces mêmes structures de l'activité de connaissance. Nous nous sommes apercus que sur le plan de la genèse de l'organisation cognitive l'un des enfants a développé des structures figuratives, et l'autre des structures opératives lui permettant d'avoir une connaissance de la réalité plus étendue.

Les liens de dépendance, de fusion, unissant les jumeaux entre eux, pourraient être dus à un développement cognitif parasitaire. Ils génèrent un lien gémellaire à partir de défaillances structurales qui vont apparaître chez chacun d'eux, ce qui ne permet aucunement leur autonomisation réciproque.

Puisque des déficiences apparaissent dans les structures de l'activité de connaissance de ces enfants, les problèmes qu'ils recontrent pourraient trouver leur solution dans une remédiation cognitive opératoire.
MZ Female Twins Discordant For X-Linked Diseases: A Review
Authors: Tiberio G.
Published: July 2016

The 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the affected twin) or skewing in one twin and random in the cotwin. The diseases involved map in two specific regions: Xq27-28 and Xp21. The only exceptions are Fabry's disease and Aicardi's syndrome, which map in Xq22 and Xp22 respectively. No concordant MZ female carrier twins, either normal or affected, have been described. Three main hypotheses have been proposed to explain such characteristics [2, 5, 14], but none is completely satisfactory. The constant discordance for X-linked diseases in MZ female twins has important consequences for genetic counselling.
Multiple Births and Congenital Anomalies in Tokyo Metropolitan Hospitals, 1979-1990
Authors: Kato K. , Fujiki K.
Published: July 2016

The rate of multiple births and the incidence of congenital anomalies in Tokyo Metropolitan Hospitals were studied during the period 1979-1990. The number of twins was 968 pairs (8.23 per 1,000 deliveries) and of triplets 18 sets (15.3 per 100,000 deliveries) among 117,672 deliveries including 1,587 stillbirths after 16 weeks gestation. Multiple birth rates increased yearly. Stillbirth rates in twins and triplets were 5.5% and 16.7% respectively, which were both significantly higher than that in singletons (1.3%). The number of congenital anomalies was 42 in 1,936 twins (2.17%), 2 in 54 triplets (3.7%) and 1721 in 116,686 singletons (1.47%). The most common defects in twins were those of the cardiovascular system (0.72% in twins vs 0.52% in singletons) and of the musculoskeletal system (0.72% in twins vs 0.50% in singletons), followed by upper respiratory tract and/or mouth conditions (0.67% in twins vs 0.35% in singletons), all of which had no significant difference in frequency between twins and singletons. Though some anomalies had a significantly higher frequency in twins than in singletons, the concordance rate in the like-sexed twins was very low.
Effects of Early Mother-Twin Relationships from Birth to Age 3, on Twin Bonding
Authors: Robin M. , Kheroua H. , Casati I.
Published: July 2016

Findings from an earlier phase of this research project clearly pointed to the mother's psycological adaptation inherent to the specificities of triadic interaction. Mothers' attitudes were classified in a typology ranging from “early twinness” where the two babies are treated as though they were a single unit, to attempts to create two dyadic relationships. The current program deals with the effects of the type of parent-child relationship at one year on the emergence of twin bonding. Sixty-eight families of twins (26MZ, 24DZ same sex, 18DZ different sex) are followed up from birth to the age of 3 using a method based on clinical interviews, videotaped observations, and questionnaires. The data cover mothers' rearing attitudes towards organization of babycare and outward signs of twinness, maternal representations of the relationship between the twins and observation of the children's interaction in a standardized game situation. The findings are discussed in terms of zygosity, and parental SCS.
Perinatal Mortality and Prevalence of Major Congenital Malformations of Twins in Taipei City
Authors: Chen C.J. , Wang C.J. , Yu M.W. , Lee T.K.
Published: July 2016

In order to examine perinatal mortality and prevalence of major congenital malformations in twins, deliveries in four teaching hospitals in Taipei City were studied. Among a total of 73,264 deliveries from October 1985 to June 1989, there were 844 pairs of twins. The zygosity of the twin pairs was determined by sex, placentation and 12 red blood cell antigens. There were 482 MZ and 252 DZ twin pairs identified, but the zygosity of a further 110 twin pairs was indeterminable due to lack of information on plancentation and/or blood types. A total of 4,573 singletons delivered in one study hospital from July 1986 to June 1987 were also studied as controls. The perinatal mortality rate was 7.5% for MZ twins, 1.4% for DZ twins, and 0.7% for singletons. The concordance rate of perinatal death was significantly higher in MZ (60%) than in DZ (0%) twins. The prevalence of major congenital malformations was 2.7% for MZ twins, 1.0% for DZ twins, and 0.6% for singletons. The concordance rate of major congenital malformations was 18% for MZ twins, but no DZ pair was concordant in any major congenital malformation. The concordance rate of facial clefts was 29% for MZ twins. There were 2 sets of conjoined twins giving a prevalence rate of 2.7 per 100,000 deliveries. These findings showing the prevalence of perinatal mortality and major congenital malformation to be highest in MZ twins, intermediate in DZ twins and lowest in singletons, suggest the importance of intrauterine environments in the determination of perinatal mortality and congenital malformations.
Northwestern University Twin Study X: Outcome of Twin Gestations Complicated by Gestational Diabetes Mellitus
Authors: Keller J.D. , Utter G.O. , Dooley S.L. , Minogue J.P. , Keith L.G.
Published: July 2016

Existing data concerning the effect of gestational diabetes on perinatal outcome in twin pregnancies is scant. We hypothesized that altered carbohydrate metabolism would worsen perinatal outcome in twin gestation in a manner similar to singleton gestation. Thirteen twin pregnancies complicated by gestational diabetes mellitus were matched by gestational age at delivery to 13 twin pregnancies unaffected by gestational diabetes. Comparing infants of diabetic mothers to infants of control mothers, there was a trend of greater likelihood of respiratory distress syndrome, hyperbilirubinemia, and prolonged neonatal intensive care nursery admissions. Our experience suggests that altered carbohydrate metabolism in multiple gestations increases the potential for neonatal morbidity.
Efficient Sequential Search of Genetic Systems for Diagnosis of Twin Zygosity
Authors: Chaudhuri A.B. Das
Published: July 2016

Conventionally, the zygosity of twins into monozygotic (MZ) and dizygotic (DZ) is determined by utilizing several blood groups or other genetic markers. Existence of many blood groups or other genetic markers raises the crucial problem of choosing minimum number of blood groups and applying them in a sequence with minimum cost offering maximum effectiveness in classifying the twins by zygosity. In this note, a statistical approach to this problem is made and a solution provided. The efficient sequential search procedure utilizing the gene frequency of four blood groups from the German population of Nordrhein-Westfalen province and applying the results to a twin set of 72 pairs (32 MZ and 40 DZ) of the same population indicates that efficient sequences with 3 and 4 blood groups are AB0→P→Rh and AB0→P→Rh→MNSs, respectively. Further, it is understood that the efficient sequence for zygosity determination will be differing from population to population. As gene frequencies of blood systems differ in the various populations, this will effect the probability that a DZ twin pairs is concordant for a specific marker. Moreover, the relative cost may also turn out to be a decisive factor in the determination of the best sequence. Hence, indiscriminate use of several conventional blood group systems in the determination of zygosity of twins from a particular population should be discontinued. The formulae developed in this note are quite general and the procedure explained can easily be generalized to other situations.
Surveillance of Triplets with Umbilical Artery Velocimetry Waveforms
Authors: Rafla N.M.
Published: July 2016

Doppler arterial velocimetry waveforms was used as a method of antenatal surveillance for triplets. Six sets of triplet pregnancies were studied. Each fetus was identified by real-time-ultrasound scanning and the peak systolic/end diastolic (S/D) ratio was calculated. In one set of triplets two fetuses showed absent end diastolic flow. Both subsequently suffered from necrotising enterocolitis and had major bowel resection. The five other sets of triplets maintained a normal S/D ratio. Three had a normal outcome and two delivered prematurely.
Obstetrical Implications in Multiple Pregnancies
Authors: Pachì A. , Paesano R. , Giorgetti T. , Puorger C. Conti , Petrelli V. , Ianiro G. , Rocino M.T. , Spera G.
Published: July 2016

In the present study 90 multiple pregnancies were examined. These were subdivided on the basis of the number of embryos involved (74 twins, 10 triplets, 6 quintuplets) and on whether they were followed at our clinic for the entire pregnancy or not. In each group we analysed certain variables, calculating the respective mean values and standard deviations. We used the ANOVA test to discriminate the eventual differences in the means of the variables analysed, operating a p<0.05 significance value. In addition, significant differences were analysed by the test of Contrasts (Scheffe F-test). The concept that emerged from the data investigated is that careful management of these pregnancies, carried out in high-level structures, can reduce the incidence of complications on both the maternal and fetal side and thus prevent “minimal brain damage” in the newborn.
Knowledge Data Base System for Twins Study
Authors: Reina S. , Miozza F.
Published: July 2016

The medical research on twins, carried out at the Gregor Mendel Institute for Medical Genetics and Twin Study in Rome over the past four decades, has resulted in a vast collection of clinical paper records. A challenge was presented by the need for a more secure method of storage to preserve this enormously valuable historical and scientific patrimony and to render its contents more easily accessible for research purposes. We met the challenge by planning and developing the computerization of this material. New concepts, currently being explored in biomedical informatics, were applied to build a Knowledge Data Base System, using a fourth-generation language (SQL). This architecturally innovative computer system enables its users to manipulate data supplied, rather than just simply storing it. Based on heuristic relational criteria between variables and parameters, the system is employed to solve problems of sibling design analysis typically arising from twins' records, but is also equipped to meet future data base requirements. Another feature of the system is its users' ability to pull off data in the form of regular automated reports, which are distributed through a Local Area Network (LAN). Through a Bulletin Board System (BBS) and modem, any scientist (outside as well as within the Institute) is thus able to access data and exchange scientific information.
The Mercurio Project and Twins. How to use a Registry
Authors: Lanni R. , Grimaldi V. , Corchia C. , Mastroiacovo P.
Published: July 2016

An essential element in any investigation of environment-genetics interaction is twin registries. At present there exist two types, one based on the whole population and another relying on voluntary participation. The second type is an important source of epidemiological information regarding the presence or absence of a disease (concordance) between members of monozygotic and dizygotic pairs. However, this type presents two serious drawbacks: the data do not cover all twins, and since the twins enrolled are those who require the greatest assistance, this results in a serious selection bias [2]. On the contrary, the first type has neither of these defects and represents an invaluable source of information for epidemiological studies on the concordance of pysiological features, morbidity and mortality, together with genetic and environmental influences and their interaction [1, 3-5].

April 1993 saw the first enrolment in a Multiple Pregnancies Registry designed to collect data from 47 Italian hospitals. This registry forms part of a larger survey, the “Mercurio Project”, originally set up in April 1992 under the aegis of the Italian Multicentre Birth Defects Registry (IPIMC). The aims of the registry are the following:

(a) to set up longitudinal epidemiological studies on the health, morbidity and mortality of twins

(b) to assess the role of environmental-genetic interaction in determining childhood behaviour and disease (using case-control studies where each twin is matched with his or her cotwin)

(c) to draw the attention of socio-sanitary personnel to twins and their special needs.
Indagine Clinico Epidemiologica su 132 Nati da Gravidanze Multiple
Authors: Corsello G. , Aloisio A. , Attardo G. , Piccione M. , Piro E. , Vitaliti S.M. , Giuffrè L.
Published: July 2016

L'epidemiologia delle gravidanze multiple si è notevolemente modificata nel corso degli ultimi due decenni in virtù del perfezionamento e della diffusione delle tecniche di riproduzione assistita. L'utilizzazione di induttori farmacologici della ovulazione (specie le gonadotropine ed il citrato di clomifene) e l'impianto in utero di più embrioni fecondati in vitro, sono fattori che maggiormente hanno contribuito a fare impennare verso l'alto il numero di nati da gravidanze plurigemine. L'incidenza di parti trigemini, ad esempio, considerata gli inizi degli anni '70 di circa 1:10,000 parti, oggi si è elevata sino ad 1:3,500 circa.

Presentiamo i dati relativi a 132 soggetti nati da gravidanze plurigemine all'Istituto Materno Infantile dell'Università di Palermo, al fine di valutarne la sopravvivenza e la morbilità anche in relazione al tipo di gravidanza (spontanea o indotta). In tal senso abbiamo preso in considerazione esclusivamente i nati nella nostra struttura con età gestazionale uguale o superiore a 26 settimane, escludendo quindi i nati da gravidanze plurime nati in altre strutture e trasferiti dopo la nascita (Tabella).

Delle 57 gravidanze plurime, 37 (64.9%) sono risultate certamente indotte, solo farmacologicamente (54.1 %) o con varie tecniche di riproduzione assistita (45.9%). Le gravidanze indotte costituiscono nel nostro campione il 92.9% delle gravidanze con ordine di gemellarità superiore o uguale a 3 e solo il 55.8% delle gravidanze bigemine. Sul complesso delle gravidanze indotte conosciute, la quota percentuale delle plurigemine è risultata del 59.1% 102 neonati (77.3%) sono nati da taglio cesareo, 30 (22.7%) da parto eutocico.
Gravidanze Gemellari in 18 Anni di Diagnostica Citogenetica Prenatale
Authors: Mantero M.M. , Piombo G. , Zara F. , Carbone L. Doria Lamba
Published: July 2016

Riportiamo 55 casi di gravidanze gemellari su un totale di 7,350 (0.75%) diagnosi citogenetiche prenatali eseguite presso il Centro di Genetica Umana dell'E.O. Ospedali Galliera di Genova, nel periodo 1975-1993. Le gravidanze gemellari erano bia-mniotiche nel 93.7% dei casi e monoamniotiche nel restante 6.3%. Le indicazioni per cui è stata richiesta la diagnostica citogenetica prenatale sono riportate in Tab. I

La quasi totalità delle diagnosi (n. 54) è stata effettuata mediante prelievo di liquido amniotico tra la 15ma e la 21ma settimana di gestazione; in un solo caso è stato richiesto il prelievo dei villi coriali alla lima settimana. In Tab. II riportiamo i sessi fetali riscontrati.
Previsione della Preeclampsia nella Gravidanza Gemellare Mediante Velocimetria Doppler Uterina
Authors: Bufalino L. , Rizzo G. , Rinaldo D. , Romanini E. , Valensise H. , Arduini D. , Romanini C.
Published: July 2016

L'incidenza di pre-eclampsia nella gravidanza gemellare è aumentata di circa 5 volte rispetto alle gravidanze singole. La velocimetria Doppler a livello uterino si è dimostrato in popolazioni a rischio, un metodo efficace per identificare precocemente le pazienti a rischio di pre-eclampsia. Non sono disponibili dati a questo riguardo nella gravidanza gemellare.

Obiettivi: 1) valutare le differenze negli indici di resistenza delle arterie uterine tra gravidanze singole e gemellari, 2) valutare eventuali differenze in gravidanze gemellari complicate da pre-eclampsia, 3) valutare il valore predittivo della velocimetria Doppler uterina sulla pre-eclampsia in gravidanze gemellari esaminate a 20-24 settimane di gestazione e poi seguite prospettivamente.

Disegno dello studio: l'indice di resistenza RI a livello di entrambe le arterie uterine è stato calcolato mediante Doppler colore-pulsato (Ansaldo Hitachi AU590A) nelle seguenti popolazioni: a) 315 gravidanze singole non complicate, b) 96 gravidanze gemellari non complicate, c) 53 gravidanze gemellari complicate da pre-eclampsia, d) 63 gravidanze gemellari valutate a 20-24 settimane di gestazione e non complicate al momento della osservazione.

Risultati: 1) sia nelle gravidanze singole che in quelle gemellari i valori di RI decrescono nel corso della gravidanza e i valori presenti nelle gravidanze gemellari a decorso normale sono significativamente inferiori (Anova p < 0.001). 2) le gravidanze gemellari complicate da preeclampsia dimostrano valori di RI lievemente superiori alle gravidanze gemellari non complicate (p <0.05). 3) il valore predittivo sulla preeclampsia delle arterie uterine a 20-24 settimane è risultato inadeguato (k = 0.24).

Conclusioni: la velocimetria Doppler delle arterie uterine è risultata di scarsa utilità clinica nel prevedere la preeclampsia nelle gravidanze gemellari.
Observations and Remarks on Three Cases of TRAP Sequence
Authors: Fulcheri E. , Carli C. , Garlaschi G. , Malvasio S. , Pantarotto M.F. , Badini A.
Published: July 2016

Three cases of acardius amorphus with twin reversed arterial perfusion (TRAP) sequences are reported and the histomorphological and clinical aspects are discussed. The patho-physiology of the twin pump is briefly described. Precise prenatal assessment of the morphology of the acardius is recommended for an accurate monitoring of the perfuser in order to plan proper fetal therapy and timing for delivery.
II Rorschach per Due Co-Stretti nell'Uno: Tentativi di Ricostruzione di Unicità nei Gemelli
Authors: Carassi G. , Rosini M.P.
Published: July 2016

Il Test di Rorschach applicato ai gemelli mostra il grande sforzo dell'individuo gemello verso lo scopo massimo della sua personalità: quello della propria unicità continuamente sconfessata o messa in discussione dall'esistenza del suo gemello.
Mirror Imaging in Twins: Biological Polarization – an Evolving Hypothesis
Authors: Golbin A. , Golbin Y. , Keith L. , Keith D.
Published: July 2016

This study examined sleep patterns in twins, paying special attention to the mirroring phenomenon. Concordance and discordance of sleep related patterns (parasomnias) in a group of 27 monozygotic (MZ) mirror image twins were compared to sleep patterns in a group of 53 MZ non-mirror image twins and a group of 24 dizygotic (DZ) twin pairs. Sleep patterns had the lowest concordance among MZ mirror twins. “Mirroring” was observed not only in facial features but also in some physiological patterns such as sleep and sleep deviations. These facts suggest that mirroring in MZ twins is not merely a superficial epiphenomenon, but a reflection of a biological polarization. Biological polarization in this context is a descriptive term emphasizing the role of biological (physiological, biochemical or even genetic) versus psychological or environmental factors causing not only mirror body image but opposite tendencies in the development of personality, professional and sex orientation and, most importantly, the opposite presentation of pathology.
Life Expectancy of Monozygotic and Dizygotic Twins
Authors: Taubman P.
Published: July 2016

White male twins from the NAS-NRC twin sample, who were born in the U.S. between 1917 and 1927 and served in the military, are used to estimate variability in hazard functions for those twins who died during the period 1974-1990. Roughly the same number of MZ and DZ twins died during this period, but their death rates are similar. DZ twins exhibit greater within-pair variation. Using hazard and other analyses, the only statistically significant variables are found to be being a DZ twin (in level equations), date of birth, and, sometimes, wife's religious preference. Variables not significant for level or within-pair equations, include own religion, parental education, working overtime frequently, and number of children. The greater variation in life expectancy of DZ twins is hardly surprising and may say something about the lack of comparability in phenotype variance of DZ twins, which in turn may be worrying.
Twinning in Susceptible Mothers—An Exploratory Study of International Data by Payami's Models Suggests “Reproductive Maturity” as a Risk Factor
Authors: Philippe P.
Published: July 2016

An attempt has been made to apply Payami's models to maternal age-specific twin birth prevalences in several countries. The models disclose the heterogeneity of a cohort and spell out the risks to susceptible members (who will actually get the disease) according to age (or time). Payami's method specifies that the typical cohort of susceptibles is ascribed to two exposures: a potent and generalised exposure and a very low or no risk secondary exposure. The models have been adjusted to international data from current as well as old populations, of Occidental and Japanese origin. Results show that cohorts of twin-prone mothers aged 25 to 45 are homogeneous. A single dominant etiology is suggested which applies to both MZ and DZ twins. Heterogeneity, from 10% to 25%, is present in all countries whenever the 20-24 age group is involved. A separate study of illegitimate twin births from Denmark reduces the heterogeneity and shows that MZ illegitimate twin births are due to a secondary exposure responsible for a distinct twinning etiology. The age-specific risks of a MZ illegitimate twin birth are much higher than those of any comparison group, and are constant until age 35 years. This suggests a single-hit exposure akin to a neuroendocrine stimulus which short-cuts the usual age-dependent etiologic pathway. MZ and DZ twins both experience the same maternal age specific risks, an observation which underscores the common etiology of both types of twins. Risks increase with age from age 20 to 45 years. The pattern according to age varies among countries and time periods. Occidental populations have a pattern varying from an exponential to a more linear increase in old and recent populations, respectively. Only present-day Japan displays a logarithmic-like growth curve. The concept of “reproductive maturity” is introduced, and related to the secular trend of the DZ twin birth risk and to its variation across countries. Two new conclusions are drawn: a) The higher the rate of reproductive maturity, the less the DZ twin birth risk and, b) Reproductive maturity determines the maternal age-specific gonadotropin levels.
Changes in the DZ Unlike/Like Sex Ratio in The Netherlands
Authors: Orlebeke J.F. , Eriksson A.W. , Boomsma D.I. , Vlietinck R. , Tas F.J. , de Geus E.C.
Published: July 2016

Based on Dutch twin incidence figures since the beginning of the current century, evidence is provided in support of the idea that the DZ unlike/like sexed ratio has gradually shifted (since 1900) from unity to less than unity. Opposing conclusions with regard to the justification of the use of Weingberg's differential rule are very probably correct in themselves but could depend on country and period of birth of the twin sample used. Furthermore, the fast drop and subsequent rise in DZ twinning rate between about 1963 and 1990 can very likely for the greater part be ascribed to a parallel shift in maternal age.
Influence of Placentation on High Density Lipoproteins in Adult Males: The NHLBI Twin Study
Authors: Reed T. , Christian J.C. , Wood P.D. , Schaefer E.J.
Published: July 2016

Dizygotic (DZ) World War II veteran twins who participated in the National Heart Lung and Blood Institute (NHLBI) Twin Study have been reported to have greater variance than monozygotic (MZ) twins for plasma high-density lipoprotein cholesterol (HDL-C), cholesterol in the low-density fraction of HDL (HDL2-C) and apolipoprotein A-I, a major protein component of HDL. It was hypothesized that a possible source of this difference in zygosity variance could be prenatal environmental influences related to placental type. Dermatoglyphics were used to provide a retrospective index of placental type in a subset of the NHLBI MZ twins aged 59-70. The MZ twins classified as dichorionic were found to have significantly greater within-pair variability than the monochorionic MZ twins for HDL-C, HDL2-C and Apo A-I. These findings indicate that intrauterine environmental influences on HDL are manifest later in life.
Discordant Twins: Acid-Base Status
Authors: Ordorica S.A. , Frieden F.J. , Hoskins I.A. , Young B.K.
Published: July 2016

A prospective study was undertaken to determine the effect of twin birth-weight discordancy on Apgar scores and umbilical blood acid-base parameters. Using the paired t-test, small but statistically significant differences were seen in these parameters favoring the heavier twin over its lighter sibling. These differences were also affected by birth order, with the first-born being favored.
Cesarean Delivery of the Second Twin After the Vaginal Birth of the First Twin: Misfortune or Mismanagement?
Authors: Blickstein I. , Zalel Y. , Weissman A.
Published: July 2016

The perinatal characteristics of 16 vaginal-abdominal deliveries of twins were evaluated. The primary indication for the cesarean delivery was compound vertex presentation (n = 4), prolapsed umbilical cord (n = 4), transverse lie (n = 7), and mentoposterior face presentation (n= 1). Ther outcome of Twin A was not different from that of Twin B. About 90% of the twins were eventually discharged on time. A significant correlation (R = 0.9722, p < 0.0003) was found between the reported rates of combined deliveries and cesareans in twins. The data suggest that a higher rate of combined deliveries is expected in practices where abdominal deliveries are performed more often in twin gestations, while in obstetric services with low cesarean rates in twins, combined deliveries seem to be unfortunate occurrences dictated by unexpected intrapartum events.
A Stochastic Model of the Genetic Predisposition to Ageing: An Application to Twin Data
Authors: Gedda L. , Brenci G. , Rossi C.
Published: July 2016

In previous papers a stochastic model of the ageing process has been proposed. Some genetic parameters (redundance, repair) have been used to explain the observed differential predisposition to the process and family heredity. Because the process is basically due to effective random mutations, any individual of the population would be predisposed differently to ageing according to the structure of his/her genome. In the present paper, the previous model is generalized to take into account an additional genetic parameter, namely, the stability against random mutations, defined as the probability that a random mutation in a codon would produce no mutation in the corresponding protein. Estimation problems connected with the model are approached on the basis of twin data in maximum likelihood estimation as well as in bayesian framework. Some comparisons between the two methods are reported.
Persist or Quit? Testing for a Genetic Contribution to Smoking Persistence
Authors: Heath A.C.
Published: July 2016

We consider three alternative parametric models to describe genetic and environmental influences on smoking initiation and smoking persistence. Under the single liability dimension model, the same genetic and environmental influences which determine smoking initiation also influence smoking persistence. Under the independent liability dimensions model, independent initiation and persistence dimensions determine onset of smoking, and persistence in those who become smokers. The combined model also postulates separate initiation and persistence dimensions, but allows for the possibility that some smokers are so low on liability to smoke on the initiation dimension that they become ex-smokers for this reason. Reanalyses of London twin data published by Eaves and Eysenck support the single liability dimension model. We discuss the difficulty of reconciling this finding with the hypothesis that nicotine dependence is a major determinant of smoking persistence, but caution that sample sizes in the London twin study were small.
Definitive Methods of Zygosity Determination in Twins: Relevance to Problems in the Biology of Twinning
Authors: Machin G.A.
Published: July 2016

Many studies of embryogenesis and fate of twin pregnancies are invalidated because zygosity is not determined definitively, or is assumed on the basis of inadequate criteria. This paper briefly reviews methods of zygosity determination. It reports published results and a new series of twins in which zygosity was determined by DNA fingerprinting. Implications for methods of prenatal diagnosis of zygosity are discussed in the context of the occasional need for intervention in twin transfusion syndrome or in twins discordant for major malformations. Definitive zygosity and placental anatomy (number of chorions and amnions) is discussed as the firm substrate for studies of normal and abnormal twin development.
Mother-Twin Interaction During Early Childhood
Authors: Robin M. , Josse D. , Tourrette C.
Published: July 2016

The components of a research program focussing on early mother-twin interaction is described. Preliminary data obtained from a questionnaire at two months post term, cross-sectional observations at the age of one year, a follow-up study involving home observation and parental interviews from birth to the age of 3, point to the specificity of this triadic situation. During the first months of life, the burden of material tasks and the increase in baby care leave little time for starting a relationship based on pleasure or play. The impossibility of responding simultaneously to the needs of two babies and the difficuty of forming relationships on an individual basis foster early concerns for egalitarianism. The degree of physical resemblance between the babies creates the problem of differentiating them. To tell twins apart, mothers rapidly tend to rely on behavioral characteristics to which they attribute a genetic basis. In contrast, differences in development between the babies that introduce the eventuality of the dominance of one of the twins are often denied. In this highly specific situation, mothers arrive at personal solutions of adjustment over the first 3 years, manifest in a certain number of psychological and educational attitudes. Analysis of these maternal attitudes may help to shed light on some of the features of later psychoemotional development in twins.
The Bereaved Twin
Authors: Woodward Joan
Published: July 2016

This three-year study was based on individual interviews of over 200 bereaved MZ and DZ adult twins. Its purpose was to record the Ione twins' response to the loss of their twin and to investigate factors that correlated with either the severity or amelioration of the loss.
Essential Nonmedical Perinatal Services for Multiple Birth Families
Authors: Malmstrom P.E. , Faherty T. , Wagner P.
Published: July 2016

Parents of multiples suffer unique stresses which can severely impair family health and welfare. Access to information, counseling, and community resources increase parents' abilities to cope, and reduce the risk of child and spousal abuse. Twinline, a social service agency in Califormia, provides a variety of free and low-cost nonmedical perinatal services to meet the needs of a heterogeneous population of over 1,000 multiple birth families and parents expecting multiples in the urban and rural counties of the San Francisco Bay Area.
Nature-Nurture Interaction in Different Types of School Environments A Longitudinal Study
Authors: Fischbein Siv
Published: July 2016

A model of nature-nurture interaction in school situations emanating from a longitudinal Swedish twin project is presented. This model implies that interactional effects measured by MZ-DZ within-pair comparisons over time are related to the type of behavior studied, as well as teacher and pupil influences at different levels. In a more permissive and stimulating school situation, hereditary factors are hypothesized to be more influential (decisive for behavioral variation) than in a more restrictive and nonstimulating situation. A study of such interactional effects will require longitudinal measurements of pupil behavior as well as teacher and parental influences. To acquire a variation in permissiveness/restrictiveness and stimulation/nonstimulation at the societal level, comparisons are made between twins attending grade 4-6 in compulsory schools in Sweden and twins of the same age attending Israelian Kibbutz schools.
Dominance and Submissiveness Between Twins. II. Consequences for Mental Health
Authors: Moilanen Irma
Published: July 2016

In a follow-up study of 234 twin pairs, now aged 12-20 yrs, the intertwin relationships were evaluated by the parents and the twins themselves. The dominance-submissiveness aspect was inquired from three separate points of view, physical dominance, psychic dominance, and role of the spokesman. These three different aspects of dominance reflected on the twins' well being and mental health in somewhat different ways. The submissiveness in one area was often compensated by equality or dominance in another area, with only about 10% of adolescents being submissive or dominant in all three areas. According to the parents' reports, the most submissive twins suffered most often from psychosomatic symptoms, and the most dominant ones from nervous symptoms. The twins who themselves reported to be most submissive had most often somatic complaints and scored highest in the Kovacs' Depression Inventory.
Family History and Birthweight in Monozygotic Twins Concordant and Discordant for Psychosis
Authors: Lewis S.W. , Chitkara B. , Reveley A.M. , Murray R.M.
Published: July 2016

In a sample of monozygotic twins, intrapair differences in reported birthweight were larger in those pairs discordant for later psychosis, compared to pairs concordant for psychosis. A trend towards less family history of psychiatric disorder was also found in the discordant pairs.
New Frontiers of Gemellology
Authors: Gedda Luigi
Published: July 2016

The good result of this congress (the fifth of the series), in terms of quality of papers and number of participants, proves we were on the right track when in 1974 we founded the International Society for Twin Studies, and even more proves that the interest in gemellology is increasing.

I wish to thank our many colleagues who contributed to the promotion, construction and success of this field of biomedical research, and particularly Gordon Allen, Ian MacGillivray, Walter Nance, Paolo Parisi, and of course Aldur Eriksson.

For my part, I would like to emphasize that going from the title “Study of Twins” given to my book in 1951 to the word gemellology placed in the title of our quarterly Acta Geneticae Medicae et Gemellologiae in 1952, I wanted to affirm: first, that the study of twins is a branch of modern genetics; second, that the study of twins represents a “logos,” that is, a subject composed of acquired concepts, of constant phenomena and specific methods of research on twins in normality, in pathology and in population. With this word, now also adopted by Professor Nance in his Presidential Address, “Introduction to Gemellology,” twin research has become an identified field of science.

In order that the Amsterdam Congress may be as fruitful as the previous ones, I believe it useful to look out of the window of the future with you to see some roads which could be new frontiers of gemellology.