Normal Twin Research Articles

Effects of Genetic and Environmental Factors on Cingulate Cortical Thickness on Brain Magnetic Resonance Imaging: A Normal Twin Study in East Asia

Effects of Genetic and Environmental Factors on Cingulate Cortical Thickness on Brain Magnetic Resonance Imaging: A Normal Twin Study in East Asia

Hepatic arterial buffer response in monochorionic twins with selective fetal growth restriction.

Monochorionic twins (MC) have higher risk ofperinatal morbi-mortality compared to singletons and dichorionic twins (DC). Selective fetal growth restriction (sFGR) increases the chances of adverse outcome. Hepatic arterial buffer response (HABR) is an important mechanism for maintaining liver perfusion. We hypothesised that HABR is active in monochorionic diamniotic twins (MCDA) with sFGR where restricted fetus may have liver hypoperfusion. The objective of this study is to test whether the HAV-ratio is diminished in pregnancies affected by selective fetal growth restriction pointing to activation of HABR in the growth-restricted fetus. sFGR was defined according to a consensus definition. Hepatic artery (HA) peak systolic velocity (PSV) was measured and its correlation with fetal Dopplers and pregnancy characteristics were determined. A ratio using HA-PSV (HAV-ratio) was calculated and its association with sFGR was established. Further analysis of HA-PSV was performed comparing z-scores between normal and growth restricted fetuses. We included 202 MCDA pregnancies, 160 (79 %) normal and 42 (21 %) with sFGR. HAV-ratio was significant different between groups. The mean HAV-ratio was 1.01 (±0.20) for normal twins and 0.77 (±0.25) for sFGR. Furthermore, HA-PSV z-scores was significant increased in in growth-restricted fetus (0.94±1.45), while in normal fetuses was-0.16 (±0.97). Our findings demonstrate that, in pregnancies with sFGR, HAV-ratio is significantly lower than in normal MCDA pregnancies. The lower HAV-ratio is due to an increase in HA PSV in the growth restricted fetus. This observation indicates an activation of HABR in the small fetus.

Twin reversed arterial perfusion sequence in monochorionic diamniotic pregnancy: A rare occurrence

Twin reversed arterial perfusion is a rare complication occurring in monochorionic multifetal pregnancies. This condition is characterized by a malformed fetus being perfused by a normal twin through an artery-to-artery anastomosis in the reverse direction. Herein, we report a case of a multigravida female with a twin pregnancy at 27 weeks 5 days of gestation referred in view of twin pregnancy with the intra-uterine demise of one twin. Gray scale and color Doppler imaging revealed a monochorionic diamniotic pregnancy with a viable, normal twin, and an amorphously developed acardiac twin. The patient was monitored with weekly ultrasonography, echocardiography, and Doppler ultrasound examination to ascertain the well-being of the pump twin. She delivered a normal live baby at term and an acardius acephalus fetus. The perinatal mortality of the pump twin is significantly high. Therefore, it is necessary to diagnose this entity at an early gestational age through improved imaging techniques, so that timely intervention can be planned.

The anisotropy of deformation twinning in bcc materials: Mechanical loading, temperature effect, and twin–twin interaction

By integrating atomistic simulations with theoretical calculations, we investigate the prevalence of {112} deformation twins in bcc materials and their sensitivity to the loading direction as well as temperature. Our atomistic simulations reveal the copious occurrence of {112} twins involving either hcp or fcc intermediate phases. The hcp and fcc cases occur in bcc titanium alloy during [100] compression and tension, respectively. Similarly, they can also manifest in bcc iron under different temperature conditions. Furthermore, by calculating the correspondence matrix, we identify the fcc and hcp cases as the normal deformation twin mode and the 1/2 atoms-shuffle mode, respectively. The twinning modes have a significant influence on twin–twin interactions and the final microstructure. Our theoretical calculation confirms that the selection of specific twin modes and twin variants is governed by the correlation between their deformation path and mechanical loading. The results underscore the crucial role of mechanical loading and temperature in activating the specific twin modes, thereby providing a novel avenue for engineering twin microstructures through carefully designed thermomechanical processing techniques.

Effect of prewarming and continuous warming on tissue dissolving ability of Triton™ versus Twin Kleen™: An in vitro study.

TwinKleen™ and Triton™ are newer all-in-one irrigants that have simultaneous action on both organic and inorganic contents. Studies comparing their tissue dissolving ability (TDA) either at room temperature (RT) or on prewarming (PW) and continuous warming (CW) are not yet reported. To evaluate and compare the effect of 3% sodium hypochlorite (NaOCl), Twin Kleen™, and Triton™, on the bovine TDA. One hundred and twenty tissue specimens (size 4 mm × 4 mm × 2 mm and weight 37 ± 3 mg) were divided into Group 1, normal saline (negative control); Group 2, 3% NaOCl (positive control); Group 3, Twin Kleen™; and Group 4, Triton™ (n = 30) Each group is further divided into three subgroups with ten samples each as sub group a - at room temperature (RT), sub group b - on pre warming (PW) and sub group c- on continuous warming (CW), Tissue specimens were immersed in test tubes with 5 ml of respective irrigants replenished thrice every 15 min. The percentage difference in tissue weights was calculated after 5, 10, and 15 min. Multiple intergroup comparisons were done using Tukey's multiple-comparison test, using SPSS software version 23.0. Both Triton™ and 3% NaOCl showed significantly higher dissolution than normal saline and Twin Kleen™ on CW followed by PW than at RT. Twin Kleen™ showed significantly less dissolution at all the tested temperatures. Heating enhances the TDA of Triton™ and 3% NaOCl but not Twin Kleen™. CW showed significantly higher dissolution than PW.

Clinical Outcome of Monochorionic Diamniotic Twins with Intrauterine Growth Restriction.

This study investigated the clinical outcome of monochorionic diamniotic (MCDA) twins with selective intrauterine growth restriction (sIUGR). International Peace Maternal and Child Health Hospital of Shanghai ultrasound database was investigated to identify all MCDA delivered from January 2013 to December 2017. After identifying 43 pairs of MCDA twins with sIUGR and 282 pairs of normal MCDA twins, we compared clinical outcomes between the two groups. Compared with normal twins, sIUGR fetuses had significantly shorter gestational age at delivery, smaller average birth weight of both twins, more significant intertwin difference in birth weight, lower Apgar scores, and higher intrauterine fetal demise (IUFD) rate, and smaller placental weight. The rate of abnormal umbilical cord insertions and abnormal blood flow in the ductus venosus (DV) and middle cerebral artery (MCA) is significantly higher in the sIUGR group. In addition, the subtype analysis of sIUGR groups indicated the poorest outcomes in type II with no significant difference between type I and III. MCDA twins with sIUGR generally exhibited limited clinical outcomes than normal MCDA twins. These limitations are mainly associated with abnormal umbilical cord insertions and blood flow in the DV and MCA. Clinical outcomes differed among the three types of sIUGR, with type II having the worst prognosis and the highest IUFD rate. · sIUGR generally exhibited limited clinical outcomes than normal MCDA twins.. · These limitations are mainly associated with blood flow of the DV and MCA.. · sIUGR with type II has the worst prognosis and the highest IUFD rate..

Longitudinal AD biomarkers in monozygotic twins: genetic contribution to AD biomarker concentrations over time

AbstractBackgroundUnderstanding the earliest pathophysiological changes in Alzheimer’s disease (AD) is important for development of therapeutic intervention strategies. Studying genetically identical twins provides unique information on genetic and environmental influences on development of AD. Here we studied change in AD biomarkers amyloid β1‐42 (aβ42), amyloid β1‐40 (aβ40), phosphorylated tau181 (p‐tau) and total tau (t‐tau) in CSF over time in a cohort of older cognitively normal monozygotic twins and tested the genetic contribution to biomarker concentrations at baseline and to change of biomarker concentrations over time.MethodWe included 103 twins (npairs = 42) from the EMIF‐AD preclinAD study with 2‐4 repeated CSF sampling available across a time period of 4.47±2 years (mean±SD age: 68.8±7 years, 54 (52%) female). We measured aβ42, aβ40, p‐tau and t‐tau using the Lumipulse platform (Fujirebio Diagnostics, Inc.). We used linear mixed models to investigate change in biomarker concentrations over time. We used twin‐pair intraclass correlation (ICC) analysis to estimate the genetic contribution to biomarker concentrations at baseline and at repeated measurements, and to annual change in biomarker concentrations.ResultAt baseline, 25 (24%) individuals had an abnormal aβ42/aβ40 ratio, 27 (26%) abnormal p‐tau and 35 (34%) abnormal t‐tau, and at last measurement respectively 34 (33%), 38 (37%) and 45 (44%). Across the group, aβ42/aβ40 decreased (β±SE ‐0.001±0, p‐value<0.001), and p‐tau and t‐tau increased over time (respectively 1.37±0.3, p‐value<0.001; 6.58±2.3, p‐value = 0.004). Increases in p‐tau levels were most pronounced in amyloid positive individuals (2.72±0.38, p‐value<0.001) compared to amyloid negative individuals (0.65±0.24, p‐value = 0.007; p‐value interaction<0.001). At baseline, the genetic contribution to biomarker concentrations was lowest for t‐tau (ICC = 0.5, p<0.001) and highest for aβ40 (ICC = 0.79, p<0.001). ICC’s remained similar at repeated measurements (table 1). Annual changes of aβ40 and p‐tau showed significant twin‐pair correlations (resp. ICC’s: 0.58 and 0.42; p‐values <0.01; Figure 1), indicating a genetic contribution to change in these concentrations over time.ConclusionIn this sample of older cognitively normal monozygotic twins, we found that AD biomarkers became increasingly abnormal over time. Our unique twin design further indicates that these very early pathophysiological changes are under moderate to high genetic influence, which also indicates a role of environmental factors.

#322 : A Rare Case Report of Successfull Live Twin Birth in a Couple Who are Carriers of Mucopolysaccharidoses VII-Sly Syndrome

Introduction: Mucopolysaccharidoses VII or sly syndrome is an autosomal recessive condition discovered in 1972 by William Sly, occurs due to mutation in the beta glucoronidase encoding gene, it is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme [Formula: see text]eta-glucuronidase. Precise data regarding its epidemiology is scarce, but birth prevalence is estimated to vary from 0.02 to 0.24/100,000 live births with 54 types of recorded mutations. The clinical course and disease progression are widely heterogeneous. So far 9 pregnancies have been recorded in patients with sly syndrome of which the majority showed some deformity. Here we present a case of a couple with two different variants of GUSB gene who delivered live twin birth with normal development. Background: A couple aged 29 & 31 who were anxious to conceive came to the clinic with a previous history of two abortions for pre conceptual counselling. Both pregnancies had features suggestive of non-anemic type nonimmune hydrops with increased nuchal fold thickness in USG. Both her pregnancies were terminated mid trimester with the autopsy results conclusive of the findings. Method & Results: Whole exome sequencing showed that both were carriers of GUSB gene of two different variants encoding for Sly syndrome. Based on the WES and karyotyping reports genetic counselling was given, and PGT-M was suggested. The patient underwent antagonist protocol and 12MII were retrieved. ICSI was done and the embryos were cultured to day 5 and subjected to PGT-A, PGT-M. The resultant 2 carrier blastocysts were transferred. Post transfer Beta Hcg was positive. The patient had an uneventful obstetric course and delivered normal twin girl babies on 27/01/23. The twins showed no physical abnormality and their genetic profiling showed they were carriers of GUSB gene. Conclusion: This case demonstrates that with appropriate pre-conceptual evaluation, genetic counselling, constant maternal and fetal surveillance, carriers of sly syndrome can be given multidisciplinary care leading to successful outcome.

A study on the correlation of placental anastomosis and superficial vascular branches of selective fetal growth restriction in monochorionic diamniotic twins

IntroductionThe main purpose of the present study was to investigate the correlation between placental anastomosis and superficial vascular branches in selective fetal growth restriction (sFGR) in monochorionic diamniotic twins.Materials and methodsThis was a retrospective analysis of the pregnancy data and placental perfusion of 395 patients with monochorionic diamniotic (MCDA) twin pregnancies delivered at our hospital from April 2013 to April 2020. We divided the patients into two groups and compared the number of placental superficial vascular branches in sFGR twins and normal MCDA twins. The correlation between the placental anastomosis and the number of superficial vascular branches in sFGR and normal MCDA twins was also investigated.ResultsThe number of umbilical arterial branches and umbilical venous branches was less than larger twins in sFGR, larger twins in normal MCDA and smaller twins in normal MCDA. (11.83 [4–44], 21.82 [7–50], 19.72 [3–38], 14.85 [0–31], p < 0.001, 6.08 [1–18], 9.60 [3–22], 9.96 [2–22], 8.38 [1–20], p < 0.00) For smaller twins in the sFGR group, the number of umbilical venous branches was positively associated with AA anastomosis overall diameter, AV anastomosis overall diameter and all anastomosis overall diameter. (r = 0.194, 0.182 and 0.211, p < 0.05)ConclusionsThe risk of sFGR may arise when the placenta from MCDA twins shows a poor branching condition of placental superficial vessels. For the smaller twin of sFGR, regular ultrasound examination of the number of the umbilical venous branches may help to predict artery-to-artery (AA) overall diameter, artery‐to‐vein (AV) overall diameter and all anastomosis overall diameter.

Estudio morfológico macroscópico de un feto acardio

The morphological study of the acardio anceps fetus presented, product of a controlled twin pregnancy, primiparous for 17 years, which was obtained by eutocic delivery. The normal twin did not present alterations and its subsequent development has been normal. Among the characteristics of the acardium, sketches of the skull, thorax, abdomen and limbs were presented, the body cavities being occupied by a substance formed by loose connective tissue. The cord insertion was velamentous.

A conditional standard for the customized fetal growth trajectory in twin pregnancy

BackgroundThe difference between the birthweights of twins and singletons grows with advancing gestation. Although many fetal weight standards based on ultrasound have been created for tracking fetal growth in twin pregnancies, their applicability to other groups is limited by the fact that they are population-specific. ObjectivesTo generate conditional centiles of growth assessment in twin fetuses and compare them with other population-based growth standards for singleton and twin fetuses. Study DesignA retrospective longitudinal study of the ultrasound-based estimated fetal weight (EFW) dataset of normal twin fetuses delivered after 34 weeks of gestation was conducted. Linear mixed effects models, which adjusted for maternal characteristics, fetal gender, and chorionicity, were used to construct the relationship between EFW and gestational age. The EFW reference values were calculated using conditional centile based on the EFW at an earlier gestational age. To compare our results with previous studies, fetal growth curves were generated using a formula we created which included maternal characteristics and the EFW at 24 weeks of gestation in these studies. In a subgroup analysis of our low-risk twin babies born at full term, we calculated the number of fetuses that were reclassified as being in the bottom 10th percentile using each of the previous population-based standard. Results2644 ultrasounds with a median of 4 scans per fetus from 572 twin pregnancies were included in this analysis. Thirty six percent of the fetuses were monochorionic. Maternal age, body mass index, and the interaction between fetal gender and chorionicity were significantly associated with EFW. The predicted growth curves matched the growth standard for twins. In our low-risk group, when the singleton standard was used, the incidence of EFW 10th percentile was above 20% from gestational week 24–38, and this incidence varied when reclassified using other population-based twin standards. ConclusionsThis conditional growth chart was specifically designed to assess fetal growth in twins, but it is generalizable to other populations.

Strain effects on stability of topological ferroelectric polar configurations in (PbTiO3)n/(SrTiO3)n superlattices

The (PbTiO3)n/(SrTiO3)n (PTO/STO) superlattice system has been shown to exhibit interesting topological phases (e.g., vortices and skyrmions) in addition to normal ferroelectric domain states. Existing studies are mostly focused on the dependence of topological polar distributions and properties of PTO/STO superlattice on its periodicity. Here, we study the strain effect on the topological phase transitions and ferroelectric domain structures employing phase-field simulations. We summarized in an isotropic strain (in-plane misfit strain along the x direction is equal to that along the y direction) periodicity phase diagram displaying the stability regions of different polar topological states, including normal ferroelectric twins, vortices, skyrmions, and mixtures of vortices and twins. We also analyzed the polarization configurations under anisotropic in-plane strains (in-plane misfit strain along the x direction is not equal to that along the y direction) and demonstrated that the strain anisotropy can be used to tune the directions of vortex arrays along either the [100] pc or [010] pc directions or labyrinth vortex arrays. This work offers guidance to manipulating polar structures in the PTO/STO superlattices via strain engineering.

Management of twin reversed arterial perfusion sequence: eight cases over 13 years.

Twin reversed arterial perfusion (TRAP) sequence is a rare condition that affects primarily monozygotic monochorionic twin pregnancies in which a normal twin acts as a pump (donor) for an acardiac recipient (perfuse) twin. We report our experience over the last 13 years at a tertiary health care center. Descriptive, retrospective case series SETTING: Tertiary health care center PATIENTS AND METHODS: All TRAP cases managed between the years 2009 and 2022 at our Fetal Diagnosis and Therapy Center were included. Data recorded included demographic and clinical information which was used to generate descriptive data. Patients were managed by a multidisciplinary team with variable interventions. Survival of normal twin SAMPLE SIZE: Eight RESULTS: Eight pregnant women with TRAP syndrome were managed at our center during that period. One was monozygotic monochorionic and the others were monochorionic diamniotic. Median maternal age at presentation was 27 years and median gestational age at diagnosis was 23 weeks. All were diagnosed with ultrasound (US) imaging. Three were managed with bipolar ligation of the cord of the acardiac twin under general anesthesia, one US-guided (single port) and 2 fetoscopic (2 ports) with a median operative time of 39 minutes. The last five cases were managed with US-guided radiofrequency ablation (RFA) under local anesthesia, one needed 2 sessions, 1 week apart. The median duration of the RFA procedure was 23 minutes. There were no complications and all had viable normal babies born at a median of 32 weeks of gestation (6 C-section, 2 spontaneous membrane rupture). Acardiac twin cord ligation and RFA are feasible and safe options with excellent outcome for TRAP syndrome. RFA may be preferable owing to its less invasiveness under local anesthesia. None, given the rarity of the disease and the study design. None.

A case of observing cardiac twins

Introduction. Reverse twin arterial perfusions, also known as cardiac malformation, is a uniquely rare complication of monochorionic multiple pregnancy due to the presence of a large arterio-arterial anastomosis, the formation of a rudimentary heart or its absence in one of the fetuses. The heart of a morphologically normal twin (fetus-pump, fetus-donor) provides blood circulation for both fetuses.The aim of the work was to determine a possible way to reduce perinatal mortality using the clinical example of monochorionic multiple pregnancy with the presence of cardiac twins.Materials and methods. Materials for clinical case analysis were the exchangenotification card of the pregnant and parenting woman, labor history, the results of functional and laboratory tests. Methods: analysis of anamnesis, results of functional and laboratory tests, peculiarities of pregnancy and delivery.Results. The analysis successfully demonstrates the possibility of improving perinatal outcomes in monochorionic twins complicated by the presence of acardia syndrome in the case of timely diagnosis of the complication, close dynamic monitoring of pregnancy and timely delivery in the case of functionally confirmed deterioration of the living fetus.Discussion. Monochorial type of placentation is recognized as a high risk factor for adverse perinatal outcomes (fetal-fetal hemotransfusion syndrome, the formation of discordant growth andfetal growth retardation, cardiac twins, increase frequency of preterm birth, perinatal morbidity and death). The presence of cardiac twins is the highest risk factor for antenatal death of a second fetus in the absence of timely surgical treatment and delivery. The presented clinical case demonstrates the possibility of improving perinatal outcomes by prolonging a multiple pregnancy complicated by cardiac malformation up to 33 weeks of gestation and delivery at decompensation of the placental complex.Conclusion. In the vector of reducing the incidence of perinatal mortality, individual management of pregnant women with monochorionic multiple pregnancy is necessary to enable timely diagnosis of its complicated course by cardiac malformation of one of the fetuses, dynamic functional examination of the placental complex, determination of indications for surgical correction and choice of term of delivery.

Specific changes and clinical significance of plasma D-dimer during pregnancy and puerperium: a prospective study

BackgroundPregnant and puerperal women are high-risk populations for developing venous thromboembolism (VTE). Plasma D-dimer (D-D) is of good value in the diagnosis of exclusion of VTE in the nonpregnant population. Since there is no consensus reference range of plasma D-D applicable to pregnant and puerperal women, the application of plasma D-D is limited. To investigate the change characteristics and the reference range of plasma D-D levels during pregnancy and puerperium and to explore the pregnancy- and childbirth-related factors affecting plasma D-D levels and the diagnostic efficacy of plasma D-D for excluding VTE during early puerperium after caesarean section.MethodsA prospective cohort study was conducted with 514 pregnant and puerperal women (cohort 1), and 29 puerperal women developed VTE 24–48 h after caesarean section (cohort 2). In cohort 1, the effects of the pregnancy- and childbirth-related factors on the plasma D-D levels were analyzed by comparing the differences in plasma D-D levels between different groups and between different subgroups. The 95th percentiles were calculated to establish the unilateral upper limits of the plasma D-D levels. The plasma D-D levels at 24–48 h postpartum were compared between normal singleton pregnant and puerperal women in cohort 2 and women from the cesarean section subgroup in cohort 1, binary logistic analysis was used to analyze the relevance between plasma D-D level and the risk of VTE developing 24–48 h after caesarean section, and a receiver operating characteristic (ROC) curve was used to assess the diagnostic efficacy of plasma D-D for excluding VTE during early puerperium after caesarean section.ResultsThe 95% reference ranges of plasma D-D levels in the normal singleton pregnancy group were ≤ 1.01 mg/L in the first trimester, ≤ 3.17 mg/L in the second trimester, ≤ 5.35 mg/L in the third trimester, ≤ 5.47 mg/L at 24–48 h postpartum, and ≤ 0.66 mg/L at 42 days postpartum. The plasma D-D levels of the normal twin pregnancy group were significantly higher than those of the normal singleton pregnancy group during pregnancy (P < 0.05), the plasma D-D levels of the GDM group in the third trimester were significantly higher than those of the normal singleton pregnancy group (P < 0.05). The plasma D-D levels of the advanced age subgroup at 24–48 h postpartum were significantly higher than those of the nonadvanced age subgroup (P < 0.05), and the plasma D-D levels of the caesarean section subgroup at 24–48 h postpartum were significantly higher than those of the vaginal delivery subgroup (P < 0.05). The plasma D-D level was significantly correlated with the risk of VTE developing at 24–48 h after caesarean section (OR = 2.252, 95% CI: 1.611–3.149). The optimal cut-off value of plasma D-D for the diagnosis of exclusion of VTE during early puerperium after caesarean section was 3.24 mg/L. The negative predictive value for the diagnosis of exclusion of VTE was 96.1%, and the area under the curve (AUC) was 0.816, P < 0.001.ConclusionsThe thresholds of plasma D-D levels in normal singleton pregnancy and parturient women were higher than those of nonpregnant women. Plasma D-D had good value in the diagnosis of exclusion of VTE occurring during early puerperium after caesarean section. Further studies are needed to validate these reference ranges and assess the effects of pregnancy- and childbirth-related factors on plasma D-D levels and the diagnostic efficacy of plasma D-D for excluding VTE during pregnancy and puerperium.

Cord blood adiponectin and leptin concentrations in monochorionic twins with selective intrauterine growth restriction and their associations with childhood growth trajectories.

Being born with intrauterine growth restriction (IUGR) was associated with subsequent health issues later in life. However, the underlying role of adipokines in IUGR is unknown. To measure the adiponectin and leptin concentrations in the cord blood of monochorionic (MC) twins with selective IUGR (sIUGR) and evaluate their associations with childhood growth trajectories. Cord blood samples were collected from 22 pairs of MC twins with sIUGR and 20 pairs of normal MC twins. Adiponectin and leptin concentrations in cord blood were determined by ELISA. Data regarding perinatal outcomes and infantile growth trajectories from birth to 24 months were obtained. Only cord blood adiponectin concentrations were associated with IUGR (β -1.51, 95% CI -2.45, -0.57, p = 0.002), and cord blood leptin concentrations were significantly lower in sIUGR twins compared to normal twins (2.8 ± 1.6 vs. 6.4 ± 3.0, p < 0.001). Adiponectin concentrations were negatively associated with height increments from birth to 6 months (β -0.28, 95% CI -0.51, -0.06, p = 0.015). Leptin concentrations were negatively associated with weight at 6 and 24 months (β -0.12 95% CI -0.22, -0.02, p = 0.002; β -0.18 95% CI -0.33, -0.03, p = 0.019) and weight and height increments from birth to 6 months (β -0.17 95% CI -0.29, -0.06, p = 0.020; β -0.40 95% CI -0.81, -0.01, p = 0.037). Cord blood adiponectin concentrations were negatively associated with IUGR but did not predict childhood growth. Cord blood leptin concentrations were inversely associated with weight and height increments in the first 6 months.

Postpartum takotsubo cardiomyopathy complicated with severe pulmonary edema and cardiogenic shock – a case report

Introduction and aim. Takotsubo cardiomyopathy (TCM) is a rare but life-threatening illness that can affect middle aged, young and pregnant women. It is a cardiac emergency and can mimic many other life threatening conditions like myocardial infarction, acute myocarditis, peripartum cardiomyopathy or dilated cardiomyopathy and is diagnosed by exclusion. Description of the case. Here we report a rare case of takotsubo cardiomyopathy in a young 28 year old female immediately post vaginal delivery of her normal full term twin pregnancy, who was otherwise a healthy female. She went on to develop complication of left ventricular heart failure and cardiogenic shock, which were successfully managed by conservative treatment leading to a full recovery. Conclusion. Takotsubo or stress cardiomyopathy is a rare entity and often a missed diagnosis, which if caught on time and treated leads to great prognosis. Our patient made a full recovery and is living a healthy life.

Plasma biomarkers predict amyloid pathology in cognitively normal monozygotic twins after 10 years.

Blood-based biomarkers could prove useful to predict Alzheimer's disease core pathologies in advance of clinical symptoms. Implementation of such biomarkers requires a solid understanding of their long-term dynamics and the contribution of confounding to their association with Alzheimer's disease pathology. Here we assess the value of plasma amyloid-β1-42/1-40, phosphorylated-tau181 and glial fibrillary acidic protein to detect early Alzheimer's disease pathology, accounting for confounding by genetic and early environmental factors. Participants were 200 monozygotic twins, aged ≥60 years with normal cognition from the european medical information framework for Alzheimer's disease study. All twins had amyloid-β status and plasma samples available at study enrolment. For 80 twins, additional plasma samples were available that had been collected approximately 10 years prior to amyloid-β status assessment. Single-molecule array assays were applied to measure amyloid-β1-42/1-40, phosphorylated-tau181 and glial fibrillary acidic protein. Predictive value of and longitudinal change in these biomarkers were assessed using receiver operating characteristic curve analysis and linear mixed models. Amyloid pathology could be predicted using blood-based biomarkers obtained at the time of amyloid status assessment (amyloid-β1-42/1-40: area under the curve = 0.65, P = 0.01; phosphorylated-tau181: area under the curve = 0.84, P < 0.001; glial fibrillary acidic protein: area under the curve = 0.74, P < 0.001), as well as using those obtained 10 years prior to amyloid status assessment (amyloid-β1-42/1-40: area under the curve = 0.69, P = 0.03; phosphorylated-tau181: area under the curve = 0.92, P < 0.001; glial fibrillary acidic protein: area under the curve = 0.84, P < 0.001). Longitudinally, amyloid-β1-42/1-40 levels decreased [β (SE) = -0.12 (0.01), P < 0.001] and phosphorylated-tau181 levels increased [β (SE) = 0.02 (0.01), P = 0.004]. Amyloid-β-positive individuals showed a steeper increase in phosphorylated-tau181 compared with amyloid-β-negative individuals [β (SE) = 0.06 (0.02), P = 0.004]. Also amyloid-β-positive individuals tended to show a steeper increase in glial fibrillary acidic protein [β (SE) = 0.04 (0.02), P = 0.07]. Within monozygotic twin pairs, those with higher plasma phosphorylated-tau181 and lower amyloid-β1-42/1-40 levels were more likely to be amyloid-β positive [β (SE) = 0.95 (0.26), P < 0.001; β (SE) = -0.28 (0.14), P < 0.05] indicating minimal contribution of confounding by genetic and early environmental factors. Our data support the use of amyloid-β1-42/1-40, phosphorylated-tau181 and glial fibrillary acidic protein as screening tools for Alzheimer's disease pathology in the normal aging population, which is of importance for enrolment of high-risk subjects in secondary, or even primary, prevention trials. Furthermore, these markers show potential as low-invasive monitoring tool of disease progression and possibly treatment effects in clinical trials.

Assessment of Characteristics of Imaging Biomarkers for Quantifying Anterior Cingulate Cortex Changes: A Twin Study of Middle- to Advanced-Aged Populations in East Asia.

Background and Objectives: Our aim was to assess genetic and environmental effects on surface morphological parameters for quantifying anterior cingulate cortex (ACC) changes in middle- to advanced-age East Asians using twin analysis. Materials and Methods: Normal twins over 39 years old comprising 37 monozygotic pairs and 17 dizygotic pairs underwent 3-dimensional (3D) T1-weighted imaging of the brain at 3T. Freesurfer-derived ACC parameters including thickness, standard deviation of thickness (STDthickness), volume, surface area, and sulcal morphological parameters (folding, mean, and Gaussian curvatures) were calculated from 3D T1-weighted volume images. Twin analysis with a model involving phenotype variance components of additive genetic effects (A), common environmental effects (C), and unique environmental effects (E) was performed to assess the magnitude of each genetic and environmental influence on parameters. Results: Most parameters fit best with an AE model. Both thickness (A: left 0.73/right 0.71) and surface area (A: left 0.63/right 0.71) were highly heritable. STDthickness was low to moderately heritable (A: left 0.48/right 0.29). Volume was moderately heritable (A: left 0.37). Folding was low to moderately heritable (A: left 0.44/right 0.28). Mean curvature (A: left 0.37/right 0.65) and Gaussian curvature (A: right 0.79) were moderately to highly heritable. Right volume and left Gaussian curvature fit best with a CE model, indicating a relatively weak contribution of genetic factors to these parameters. Conclusions: When assessing ACC changes in middle- to advanced-age East Asians, one must keep in mind that thickness and surface area appear to be strongly affected by genetic factors, whereas sulcal morphological parameters tend to involve environmental factors.

Non-Invasive Prenatal Genetic Screening to Detect Trisomies In Singleton and Twin Pregnancies

Background Screening for fetal anomalies is one of the most critical parts of prenatal testing to reduce the burden of chromosomal aberrations and improve clinical outcomes in pregnancy. The available literature suggests that India carries a strong economic, emotional, and health care burden of new-born genetic diseases. Material and Methods: We present a single-center retrospective study of 200 singletons and 6 dichorionic diamniotic twin gestations screened for chromosomal abnormalities and trisomies using NIPT. The patients were presented with a gestation period of 10-12 (plus a few days) weeks, clinically confirmed with singleton or diamniotic dizygotic twins, who underwent NIPT between the years 2021-2022 (mid) at our center. All the patients underwent sonographic examination and biochemical investigations with regular follow-up and genetic counseling. The clinical history and family history of the presence of any genetic disease or any other disease were previously taken by the clinician in all cases. The main clinical indications were increased risk of trisomies found in markers test, advanced maternal age, or presented with some mild complications in pregnancy. Results; Out of the total (206) pregnancies, only 2 singleton cases were found at high risk in NIPT screen, prospectively followed up, and showed normal twins in six cases of twin pregnancy growing successfully. The high-risk cases were genetically counselled and further tests using amniotic or chorionic villi samples were recommended by the clinician with regular clinical follow-up. Conclusion: This retrospective study clearly indicates that non-invasive prenatal testing in pregnancy is a safe and effective screening test to rule out certain chromosomal abnormalities and to omit the need of further invasive tests among low-risk cases.