Individuals with discordantly high apoB to LDL-cholesterol levels carry a higher risk of atherosclerotic CVD compared with those with average or discordantly low apoB to LDL-cholesterol. We aimed to determine associations between apoB and LDL-cholesterol discordance in relation to nutrient patterns (NP) using National Health and Nutrition Examination Survey data. Participants were grouped by established LDL-cholesterol and apoB cut-offs (Group 1: low apoB/low LDL-cholesterol, Group 2: low apoB/high LDL-cholesterol, Group 3: high apoB/low LDL-cholesterol, Group 4: high apoB/high LDL-cholesterol). Principle component analysis was used to define NP. Machine learning (ML) and structural equation models were applied to assess associations of nutrient intake with apoB/LDL-cholesterol discordance using the combined effects of apoB and LDL-cholesterol. Three NP explained 63·2 % of variance in nutrient consumption. These consisted of NP1 rich in SFA, carbohydrate and vitamins, NP2 high in fibre, minerals, vitamins and PUFA and NP3 rich in dietary cholesterol, protein and Na. The discordantly high apoB to LDL-cholesterol group had the highest consumption of the NP1 and the lowest consumption of the NP2. ML showed nutrients that had the greatest unfavourable dietary contribution to individuals with discordantly high apoB to LDL-cholesterol were total fat, SFA and thiamine and the greatest favourable contributions were MUFA, folate, fibre and Se. Individuals with discordantly high apoB in relation to LDL-cholesterol had greater adherence to NP1, whereas those with lower levels of apoB, irrespective of LDL-cholesterol, were more likely to consume NP3.

Background: Monochorionic diamniotic (MCDA) twin pregnancies are associated with adverse perinatal outcome. Intertwin discordances at the time of nuchal translucency (NT) screening may have a value in the prediction of fetal loss or twin-to-twin transfusion syndrome. We aimed to determine the ability of intertwin NT and crown rump length (CRL) discordances among MCDA twins to predict adverse outcomes. Material and Methods: All MCDA twins with a documented routine ultrasound at 11 to 13+6 weeks’ gestation, and known pregnancy outcome between August 2003 and August 2012 were included. Receiver operating characteristic curves were used to determine the ideal NT and CRL discordances cut-off points that maximized the ability to predict adverse outcome, which was defined as any of: death of one or both twins, twin-to-twin transfusion syndrome, or estimated fetal weight or birth weight discordances ≥25%. Results: Of the 89 cases, 20 (22.5%) had at least one adverse outcome. NT discordance was more discriminatory of adverse outcome than was CRL discordance. The optimal values for predicting any adverse outcomes for NT were >23.7% and for CRL >3.5%. The positive predictive values for NT (52.4%) and CRL (29.8%) screening were relatively low; however, the lack of either NT or CRL discordances was more reassuring, with negative predictive values of 86.8% and 86.4%, respectively. Conclusions: NT discordance is more predictive for adverse fetal outcome in MCDA twins than CRL discordance. Neither NT nor CRL discordance are likely to modify the intensive monitoring required for these very high-risk pregnancies.

By definition, monozygotic (MZ) twins carry an identical set of genetic information. The observation of early post-twinning mutational events was shown to cause phenotypic discordance among MZ twin pairs. These mutational events comprise genomic alterations at different scales, ranging from single nucleotide changes to larger copy-number variations (CNVs) of varying sizes, as well as epigenetic changes. Here, we performed whole-exome sequencing (WES) in nine discordant MZ twins to identify somatic mutational events in the affected twin that might exert a dominant negative effect. Five of these MZ twin pairs were discordant for congenital heart defects (CHD), two for endocrine disorders, one for omphalocele, and one for congenital diaphragmatic hernia (CDH). Analysis of WES data from all nine MZ twin pairs using the de novo probability tool DeNovoGear detected only one apparent de novo variation in TMPRSS13 in one of the CHD-affected twins. Analysis of WES data from all nine MZ twin pairs by using standard filter criteria without the de novo probability tool DeNovoGear revealed a total of 6,657 variations in which both the twin pairs differed. After filtering for variations only present in the affected twins and absent in in-house controls, 722 variations remained. Visual inspection for read quality decreased this number to 12, present only in the affected twin. However, Sanger sequencing of the overall 13 variations failed to confirm the variation in the affected twin. These results suggest that somatic mutational events in coding regions do not seem to play a major role in the phenotypic expression of MZ discordant twin pairs.

Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. The aim of the Swedish Twin study On Prediction and Prevention of Asthma (STOPPA) is to identify environmental (birth characteristics and early life) and genetic (including epigenetic) factors as determinants for asthmatic disease. Based on the Child and Adolescent Twin Study in Sweden (CATSS) (parental interview at 9 or 12 years, N ~23,900) and an asthma and/or wheezing algorithm, we identified a sample of monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology and DNA), urine (metabolites), feces (microbiota), and saliva (cortisol). In total, 376 twin pairs (752 individual twins) completed the study, response rate 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. This article describes the design, recruitment, data collection, measures, and background characteristics, as well as ongoing and planned analyses in STOPPA. Potential gains of the study include the identification of biomarkers, the emergence of candidates for drug development, and new leads for prevention of asthma and allergic disease.

We have evaluated copy number variants (CNVs) in six monozygotic twin pairs discordant for schizophrenia. The data from Affymetrix® Human SNP 6.0 arrays™ were analyzed using Affymetrix® Genotyping Console™, Partek® Genomics Suite™, PennCNV, and Golden Helix SVS™. This yielded both program-specific and overlapping results. Only CNVs called by Affymetrix Genotyping Console, Partek Genomics Suite, and PennCNV were used in further analysis. This analysis included an assessment of calls in each of the six twin pairs towards identification of unique CNVs in affected and unaffected co-twins. Real time polymerase chain reaction (PCR) experiments confirmed one CNV loss at 7q11.21 that was found in the affected patient but not in the unaffected twin. The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. It included PYY (twin pairs 1 and 5), EPHA3 (twin pair 3), KIAA1211L (twin pair 4), and GPR139 (twin pair 5). They represent likely candidate genes and CNVs for the discordance of four of the six monozygotic twin pairs for this heterogeneous neurodevelopmental disorder. An explanation for these differences is ontogenetic de novo events that differentiate in the monozygotic twins during development.

Twins achieved through in-vitro fertilisation often undergo a viability ultrasound at 6–9 weeks of gestation. The presence of inter-twin crown-rump length discordance at this stage is not an uncommon finding; however the clinical significance of this is unknown. We analyzed 218 dichorionic twin pregnancies, producing two live fetuses > 24 weeks gestation, to determine whether inter-twin discordance (≥ 85th centile) in the mid-first trimester was associated with birthweight discordance (> 20%), or small for gestational age (< 10th centile). The incidence of birthweight discordance and small for gestational age infants were determined, with no increased risk found for the discordant population. This may provide some reassurance to treating clinicians.

This study aims to determine whether fetal growth is related to insulin-like growth factor-1 in dichorionic and monochorionic twins and also aims to investigate the correlation of insulin-like growth factor-1 to birthweight discordance in twins. We studied 100 women with twin pregnancies. The correlation tests of 36 discordant twins (15 monochorionic, 21 dichorionic) showed correlation between insulin-like growth factor-1 difference and birthweight discordance (insulin-like growth factor-1 vs. birthweight of first twin, r = +0.915, at 0.01 level, IGF-1 vs birthweight of second twin r = +0.790, at 0.01 level). In 49 monochorionic twins, independent of discordance, there was a correlation between birthweight discordance and insulin-like growth factor-1 difference (r = .538, at the 0.01 level). This correlation was not significant in dichorionic twins, r = .144, p = .01. These data suggest that growth discordances of twins exposed to the same maternal environment may be due to variations in IGF-1, depending upon the genetic similarity.

This study was performed to examine the main characteristics of the French Romulus twin population: zygosity, chorionicity, sex, term and birthweight. A sample of 104 pairs of twins was distinguished by zygosity, chorionicity and sex, and divided into concordant and discordant birthweight groups. Fifty-three % (n = 55) of the fetus pairs studied were born at “ideal term” (35-38 weeks), and 25% (n = 26) were delivered at “preterm” (28-34 weeks). The very preterm (< 28 weeks), and “postterm” (> 38 weeks) represented altogether 22% (n = 23) of the sample. Of the 104 twin pairs, 68% (n = 71) differ by less than 15% in birthweight, and 32% (n = 33) have a birthweight difference higher than 15%. In dizygotic (DZ) pairs females had more tendency to be in the discordant group (p = 0.01) while in monochorionic-monozygotic (MC-MZ) pairs males were more discordant (p = 0.07). We found a significant interaction between sex and zygosity type (p = 0.02). Males had a birthweight difference significantly weaker than that of females in dichorionic-monozygotic (DC-MZ) and DZ twins whereas it was higher than that of females in MC-MZ twins. There were no MZ twin pairs with DC placentation over than 15% birthweight difference. Log linear analysis demonstrated a three-way interaction (p < 0.05) between term type, zygosity type and hypotrophy. Our data indicate that in the group of twins born between 35 and 38 weeks' gestation the crucial question still remains unsettled on how term and birhweight are related to zygotism and/or chorionicity.

A case of monoamniotic monochorionic (MAMC) female twins, with one twin being anencephalic, and the co-twin being normal, is reported. Twin to twin transfusion syndrome was also noted. The reasons for anencephaly in association with monozygotic (MZ) twinning are discussed. The management of such a case is presented.

Twins within pairs often have different weights at birth. A difference of 15% or greater is defined as discordance for weight and is considered to place one or both infants at risk. Temperament differences had been found in the neonatal period for full-term discordant cotwins, but not for preterm discordant cotwins, suggesting that continued gestation for discordant twins was a risk variable for early behavior. 30 pairs of fullterm and 17 pairs of preterm discordant pairs were followed at 6, 9, 12, 18, 24, and 30 months of age. Group differences were observed for the longitudinal maintenance of cotwin discordance in physical measures, with preterm cotwins becoming more like each other. In laboratory assessments, temperament differences no longer were observed between the larger and smaller cotwins. Questionnaires indicated that mothers generally did not differentiate between their larger and smaller cotwin children in temperament ratings, except for ratings of mood for the fullterm pairs. Thus, emotionality was the only temperament dimension that differentiated between the fullterm discordant twins both in the neonatal period and at later ages. In the main, it was concluded that the fullterm discordant twins overcame the adverse in-utero influences on early behavioral development.

Temperament differences between cotwins at least 15% discordant for birth-weight were compared for a group of 66 preterm twin pairs and a group of 70 fullterm twin pairs, assessed in the neonatal period. The assessment focused on irritability, resistance to soothing, activity, reactivity, and reinforcement value. For the most part, significant differences were not obtained between discordant preterm cotwins. Previous research [10] had demonstrated that the larger fullterm twin of discordant pairs was more irritable, more difficult to soothe, more active while awake and during sleep, less reactive to visual and auditory stimuli, and less reinforcing to the examiner than the smaller cotwin. It was concluded that, for the behavioral variables measured, the fullterm group is at higher risk than the preterm group, and that both the lighter and the heavier discordant twins displayed signs of early behavioral risk. The findings suggested that the continued gestation for cotwins discordant in weight may be a risk period for early temperament development of the twins.

In situ, microscale, U-Pb isotopic analyses of zircon using the SHRIMP ion microprobe demonstrate both the potential and the limitations of zircon U-Pb geochronology. Most zircons, whether from igneous or metamorphic rocks, need to be considered as mixed isotopic systems. In simple, young igneous rocks the mixing is principally between isotopically disturbed and undisturbed zircon. In polymetamorphic rocks, several generations of zircon growth can coexist, each with a different pattern of discordance. A similar situation exists for igneous rocks rich in inherited zircon, as these contain both melt-precipitated zircon and inherited components of several different ages. Microscale analysis by ion probe makes it possible to sample the record of provenance, age and metamorphic history commonly preserved within a single zircon population. It also indicates how the interpretation of conventionallymeasured bulk zircon isotopic compositions might be improved.

In a large population-based study in Northern Ireland during the period 1974-1979, the rate of anencephalus in twins (9.1/10,000) was found to be less than that in singletons (24.3/10,000). This finding is in contrast with most other studies and the possibility of underascertainment of twin cases is considered, but it is concluded that chance is the likeliest explanation. The rate of spina bifida in twins (36.4/10,000) was similar to that in singletons (31.9/10,000). All of the twins with anencephalus were female and from pairs of like sex. Rates of spina bifida in twins from pairs of the two sex types were similar but, unusually, there was a male preponderance. As in previous studies, the great majority of twins with NTDs had unaffected cotwins.

Data 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.

The first report of leukemia occurring in both members of a twin pair was by Seigel in 1928. Since this time many more case reports and epidemiologic studies have appeared in the literature. In recent years, however, published reports on leukemia in twins have been less common. This waning interest is certainly not due to overstudy, since even the most basic questions concerning the occurrence of leukemia in twins have yet to be definitively answered. Apparently, research on this subject is at an impasse due to the difficulty of obtaining study populations and the lack of substantial experimental data in the records of the few twin registries in existence. This report represents an update on the observations and comments on this subject begun in 1970 by Keith and Brown [4].