OEIS complex: a rare foetal anomaly

OEIS (Omphalocele, extrophy of bladder/cloaca, imperforate anus, spinal defects) is a rare constellation of malformations involving multiple organs in humans. It is the most serious manifestation of exstrophy-epispadias sequence. The exact aetiology of this condition is not known. It is sporadic but genetic associations have also been hypothesised. It results from defective blastogenesis leading to improper closure of anterior abdominal wall and defective development of cloacae and urogenital septum. Incidence ranges from 1 in 200000 to 1 in 400000. Prenatal diagnosis of OEIS complex can be done by anomaly scan between 18 to 22 weeks of gestation. It carries a poor prognosis. Survival is nil or very less. Even if baby survives it requires multiple surgeries with many potential complications. We had an undiagnosed case of this complex presenting to us in advanced labour, but a timely ultrasound helped in the diagnosis and avoided an unnecessary caesarean section which we would have done for an elderly primigravida with breech presentation

Cross-shell excitations in Si 31

The Si31 nucleus was produced through the O18(O18, αn) fusion-evaporation reaction at Elab=24MeV. Evaporated α particles from the reaction were detected and identified in the Microball detector array for channel selection. Multiple γ-ray coincidence events were detected in Gammasphere. The energy and angle information for the α particles was used to determine the Si31 recoil kinematics on an event-by-event basis for a more accurate Doppler correction. A total of 22 new states and 52 new γ transitions were observed, including 14 from states above the neutron separation energy. The positive-parity states predicted by the shell-model calculations in the sd model space agree well with experiment. The negative-parity states were compared with shell-model calculations in the psdpf model space with some variations in the N=20 shell gap. The best agreement was found with a shell gap intermediate between that originally used for A≈20 nuclei and that previously adapted for P32,34. This variation suggests the need for a more universal cross-shell interaction

Experimental Study of the 38^{\textbf{38}}S Excited Level Scheme

Information on the $^{38}$S level scheme was expanded through experimental work utilizing a fusion-evaporation reaction and in-beam $\gamma$-ray spectroscopy. Prompt $\gamma$-ray transitions were detected by the Gamma-Ray Energy Tracking Array (GRETINA) and recoiling $^{38}$S residues were selected by the Fragment Mass Analayzer (FMA). Tools based on machine-learning techniques were developed and deployed for the first time in order to enhance the unique selection of $^{38}$S residues and identify any associated $\gamma$-ray transitions. The new level information, including the extension of the even-spin yrast sequence through $J^{\pi} = 8^{(+)}$, was interpreted in terms of a basic single-particle picture as well shell-model calculations which incorporated the empirically derived FSU interaction. A comparison between the properties of the yrast states in the even-$Z$ $N=22$ isotones from $Z=14$ to $20$, and for $^{36}$Si-$^{38}$S in particular, was also presented with an emphasis on the role and influence of the neutron $1p_{3/2}$ orbital on the structure in the region

Huntingtin Interacting Proteins Are Genetic Modifiers of Neurodegeneration

Huntington's disease (HD) is a fatal neurodegenerative condition caused by expansion of the polyglutamine tract in the huntingtin (Htt) protein. Neuronal toxicity in HD is thought to be, at least in part, a consequence of protein interactions involving mutant Htt. We therefore hypothesized that genetic modifiers of HD neurodegeneration should be enriched among Htt protein interactors. To test this idea, we identified a comprehensive set of Htt interactors using two complementary approaches: high-throughput yeast two-hybrid screening and affinity pull down followed by mass spectrometry. This effort led to the identification of 234 high-confidence Htt-associated proteins, 104 of which were found with the yeast method and 130 with the pull downs. We then tested an arbitrary set of 60 genes encoding interacting proteins for their ability to behave as genetic modifiers of neurodegeneration in a Drosophila model of HD. This high-content validation assay showed that 27 of 60 orthologs tested were high-confidence genetic modifiers, as modification was observed with more than one allele. The 45% hit rate for genetic modifiers seen among the interactors is an order of magnitude higher than the 1%–4% typically observed in unbiased genetic screens. Genetic modifiers were similarly represented among proteins discovered using yeast two-hybrid and pull-down/mass spectrometry methods, supporting the notion that these complementary technologies are equally useful in identifying biologically relevant proteins. Interacting proteins confirmed as modifiers of the neurodegeneration phenotype represent a diverse array of biological functions, including synaptic transmission, cytoskeletal organization, signal transduction, and transcription. Among the modifiers were 17 loss-of-function suppressors of neurodegeneration, which can be considered potential targets for therapeutic intervention. Finally, we show that seven interacting proteins from among 11 tested were able to co-immunoprecipitate with full-length Htt from mouse brain. These studies demonstrate that high-throughput screening for protein interactions combined with genetic validation in a model organism is a powerful approach for identifying novel candidate modifiers of polyglutamine toxicity