A case of prenatal diagnosis of meckel-gruber syndrome in one of the dizygotic twin of a naturally conceived pregnancy

Meckel-Gruber syndrome in one twin of a naturally conceived dizygotic twin pregnancy is largely unknown and has not been reported till date. This report illustrates the sonographic features in a case of 20-week twin pregnancy where one twin had an occipital encephalocele, bilateral enlarged and cystic kidneys, hepatic cyst and oligohydramnios but the other twin was normal. The affected twin succumbed within few days after normal vaginal delivery while the normal twin survived and is healthy.

An incidental rare finding of a TRAP sequence during a caesarean section: A case report

Twin reversed arterial perfusion (TRAP) sequence is an anomaly of monochorionic twin pregnancies where one twin has an absent, non-functioning or rudimentary heart while the other twin may be normal. The condition occurs because of early development of arterio -arterial anastomoses between the umbilical arteries of twin foetuses that share a fused placenta. In this condition, the affected anomalous (acardiac twin) is perfused by the normal twin (pump twin) via an arterio-arterial anastomosis. The affected twin (acardiac twin) presents with malformations such as absent (acradia) or rudimentary heart, underdeveloped or missing head, upper body and limbs. As pump twin has to provide circulation to itself as well as the perfused twin, this increased burden to perfuse acardiac twin increases the risk of developing cardiac failure in pump twin. Here we present such a case of 22-year-old, which was diagnosed per operatively during caesarean section at department of obstetrics & gynecology, Rukshamaniben General Hospital, Ahmedabad.

Gestational Age-Specific Reference Ranges for the sFlt-1/PlGF Immunoassay Ratio in Twin Pregnancies

<b><i>Objective:</i></b> Establish reference ranges for the Elecsys® soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) immunoassay ratio in twin pregnancies. <b><i>Methods:</i></b> Data analyzed were from 3 prospective studies: Prediction of Short-Term Outcome in Pregnant Women with Suspected Preeclampsia (PE) (PROGNOSIS), Study of Early-onset PE in Spain (STEPS), and a multicenter case-control study. Median, 5th, and 95th percentiles for sFlt-1, PlGF, and the sFlt-1/PlGF ratios were determined for normal twin pregnancies for 7 gestational windows and compared with the previous data for singleton pregnancies. <b><i>Results:</i></b> The reference range analysis included 269 women with normal twin pregnancies. Before 29 weeks’ gestation, median, 5th, and 95th percentiles for sFlt-1/PlGF ratios did not differ between twin and singleton pregnancies. From 29 weeks’ gestation to delivery, median, 5th, and 95th percentiles for sFlt-1/PlGF ratios were substantially higher in twin versus singleton pregnancies. sFlt-1 values were higher in women with twin pregnancies across all gestational windows. PlGF values were similar or higher in twin versus singleton pregnancies; PlGF concentrations increased from 10 weeks + 0 days to 28 weeks + 6 days’ gestation. <b><i>Conclusions:</i></b> Reference ranges for the sFlt-1/PlGF ratio are similar in women with twin and singleton pregnancies until 29 weeks’ gestation but appear higher in twin pregnancies thereafter.

‘TRAP-ped with an Acardius’: Case Series of Twin Reversed Arterial Perfusion (TRAP) Sequence and Review of Literature

Twin reversed arterial perfusion (TRAP) sequence is a rare but severe condition that affects monochorionic (MC) multifetal pregnancies. In twin pregnancies, it is characterized by a normally developed twin and another twin with missing heart function (acardiac twin or TRAP twin). A variety of risks and complications may affect the normal twin. Management of such pregnancies can be either expectant or interventional. We report four cases of TRAP sequence treated in our institutions and supply an overview on currently existing literature. This case series demonstrates the heterogeneity in manifestations and clinical course of patients affected by this condition. Furthermore, it includes an acardius amorphous of considerable size delivered at 35.6 weeks of gestation.

A translation-independent function of PheRS activates growth and proliferation in Drosophila

ABSTRACTAminoacyl transfer RNA (tRNA) synthetases (aaRSs) not only load the appropriate amino acid onto their cognate tRNAs, but many of them also perform additional functions that are not necessarily related to their canonical activities. Phenylalanyl tRNA synthetase (PheRS/FARS) levels are elevated in multiple cancers compared to their normal cell counterparts. Our results show that downregulation of PheRS, or only its α-PheRS subunit, reduces organ size, whereas elevated expression of the α-PheRS subunit stimulates cell growth and proliferation. In the wing disc system, this can lead to a 67% increase in cells that stain for a mitotic marker. Clonal analysis of twin spots in the follicle cells of the ovary revealed that elevated expression of the α-PheRS subunit causes cells to grow and proliferate ∼25% faster than their normal twin cells. This faster growth and proliferation did not affect the size distribution of the proliferating cells. Importantly, this stimulation proliferation turned out to be independent of the β-PheRS subunit and the aminoacylation activity, and it did not visibly stimulate translation.This article has an associated First Person interview with the joint first authors of the paper.

Establish Reference Intervals of Complete Blood Count for Twin Pregnancy

Background: Twin pregnancy is of high risk, which increased in recent years. Establishment of reference intervals of complete blood count (CBC) for twin-pregnant women during pregnancy might help for the properly prognosis of adverse outcomes in twin pregnancy. Methods: We screened out 253 cases of twin pregnancy reference cohort from 1153 twin pregnancy after the complications and adverse pregnancy outcomes were excluded. Complete blood count data were collected during the mid- and late-term of pregnancy and analyzed by SPSS to establish the reference intervals of peripheral blood of twin pregnancy. Results: The RBC, HGB, HCT, and PLT were lower in twin pregnant women than those in healthy nulligravida women during gestation, while the levels of WBC, NEU, and NEU% increased, especially in the mid-term. The reference intervals of late-term pregnancy validated by using 20 samples of twin pregnancy, then utilized for figuring out the distinctive characteristics of CBC with preterm birth (PTB) pregnancy. Absolutes of WBC and NEU increased in PTB pregnancy using our established reference intervals, implying they might be prognosis indicators of this adverse outcome. Conclusion: Establishing the reference interval of blood cell-related indicators of normal twin pregnancy is helpful for the monitoring and prognosis of PTB.

An aminoacylation independent activity of PheRS/FARS promotes growth and proliferation

Summary / AbstractAminoacyl-tRNA synthetases (aaRSs) not only load the appropriate amino acid onto their cognate tRNA, but many of them perform additional functions that are not necessarily related to their canonical activities. Phenylalanyl-tRNA synthetase (PheRS/FARS) levels are elevated in various cancer cells compared to their normal cell counterparts. However, whether and how these levels might contribute to tumor formation was not clear. Here, we show that PheRS is required for cell growth and proliferation. Interestingly, elevated expression of the α-PheRS subunit alone stimulates cell growth and proliferation. In the wing discs system, this leads to a strong increase of mitotic cells. Clonal analysis of twin spots in dividing follicle cells revealed that elevated expression of the α-PheRS subunit causes cells to grow and proliferate about 25% faster than their normal twin cells. Importantly, this stimulation of growth and proliferation neither required the β-PheRS subunit nor the aminoacylation activity, and it did not visibly stimulate translation. These results, therefore, revealed a non-canonical function of an ancient housekeeping enzyme, providing novel insight into its roles in health and diseases.

Effect of Twin Boundary Motion and Dislocation-Twin Interaction on Mechanical Behavior in Fcc Metals

The interplay of interface and bulk dislocation nucleation and glide in determining the motion of twin boundaries, slip-twin interaction, and the mechanical (i.e., stress-strain) behavior of fcc metals is investigated in the current work with the help of molecular dynamics simulations. To this end, simulation cells containing twin boundaries are subject to loading in different directions relative to the twin boundary orientation. In particular, shear loading of the twin boundary results in significantly different behavior than in the other loading cases, and in particular to jerky stress flow. For example, twin boundary shear loading along ⟨ 112 ⟩ results in translational normal twin boundary motion, twinning or detwinning, and net hardening. On the other hand, such loading along ⟨ 110 ⟩ results in oscillatory normal twin boundary motion and no hardening. As shown here, this difference results from the different effect each type of loading has on lattice stacking order perpendicular to the twin boundary, and so on interface partial dislocation nucleation. In both cases, however, the observed stress fluctuation and “jerky flow” is due to fast partial dislocation nucleation and glide on the twin boundary. This is supported by the determination of the velocity and energy barriers to glide for twin boundary partials. In particular, twin boundary partial edge dislocations are significantly faster than corresponding screws as well as their bulk counterparts. In the last part of the work, the effect of variable twin boundary orientation in relation to the loading direction is investigated. In particular, a change away from pure normal loading to the twin plane toward mixed shear-normal loading results in a transition of dominant deformation mechanism from bulk dislocation nucleation/slip, to twin boundary motion.

TRAP) Secuencia de perfusión arterial reversa en embarazo gemelar monocoriónico con feto acárdico. Caso Clínico.

Objetive: Develop a review of the pathophysiology, diagnosis, treatment and management of reversed arterial perfusion.The reversed arterial perfusion sequence, known in English literature as TRAP sequence (twin reversed arterial perfusion (1), pathology associated with complications of monochorionic twin pregnancy, (2) is the absence of a well-defined cardiac structure on a twin (the acardiac twin), which is kept alive by his co-twin (the pump twin) through an arterial-arterial surface placental anastomosis. (3) the normal twin accompanying the acardiac has a mortality of 60% ; morbidity is mainly associated with congestive heart failure (4) while the acardiac twin has a mortality of 100% Apropos of a case reversed arterial perfusion syndrome TRAP diagnosed in the second trimester of pregnancy will be displayed and evaluate it. Management made in the service of Gynecology, service image and Pathology service and the associated perinatal outcomes. Keywords: acardic Fetus, perfusion sequence reversed arterial, sequence TRAP, monochorionic pregnancy twin