A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Objectives: The causes of intellectual disability (ID) are varied, with as many as 1,400 causative genes. We attempted to identify the causative gene in a patient with long-standing undiagnosed ID.

Methods: Although this was an isolated case with no family history, we searched for the causative gene using trio-based whole-exome sequencing (trio-WES), because severe ID is often caused by genetic variations, and inherited metabolic disorders (IMDs) are assumed to be the cause when regression and epilepsy occur.

Fast and destructive density currents created by ocean-entering volcanic eruptions.

Volcanic eruptions on land create hot and fast pyroclastic density currents, triggering tsunamis or surges that travel over water where they reach the ocean. However, no field study has documented what happens when large volumes of erupted volcanic material are instead delivered directly into the ocean. We show how the rapid emplacement of large volumes of erupted material onto steep submerged slopes triggered extremely fast (122 kilometers per hour) and long-runout (>100 kilometers) seafloor currents.

Relational quantum entanglement beyond non-separable and contextual relativism.

In this paper we address the relativist-perspectival nature of the orthodox definition of quantum entanglement in terms of preferred factorizations. We also consider this aspect within the generalized definition of entanglement proposed by Barnum et al. (Barnum et al.

Complex subsurface hydrothermal fluid mixing at a submarine arc volcano supports distinct and highly diverse microbial communities.

Hydrothermally active submarine volcanoes are mineral-rich biological oases contributing significantly to chemical fluxes in the deep sea, yet little is known about the microbial communities inhabiting these systems. Here we investigate the diversity of microbial life in hydrothermal deposits and their metagenomics-inferred physiology in light of the geological history and resulting hydrothermal fluid paths in the subsurface of Brothers submarine volcano north of New Zealand on the southern Kermadec arc. From metagenome-assembled genomes we identified over 90 putative bacterial and archaeal genomic families and nearly 300 previously unknown genera, many potentially endemic to this submarine volcanic environment.

Marine-influenced microbial communities inhabit terrestrial hot springs on a remote island volcano.

Raoul Island is a subaerial island volcano approximately 1000 km northeast of New Zealand. Its caldera contains a circumneutral closed-basin volcanic lake and several associated pools, as well as intertidal coastal hot springs, all fed by a hydrothermal system sourced from both meteoric water and seawater. Here, we report on the geochemistry, prokaryotic community diversity, and cultivatable abundance of thermophilic microorganisms of four terrestrial features and one coastal feature on Raoul.

Subduction of the oceanic Hikurangi Plateau and its impact on the Kermadec arc.

Large igneous province subduction is a rare process on Earth. A modern example is the subduction of the oceanic Hikurangi Plateau beneath the southern Kermadec arc, offshore New Zealand. This segment of the arc has the largest total lava volume erupted and the highest volcano density of the entire Kermadec arc.

Louisville seamount subduction and its implication on mantle flow beneath the central Tonga-Kermadec arc.

Subduction of intraplate seamounts beneath a geochemically depleted mantle wedge provides a seldom opportunity to trace element recycling and mantle flow in subduction zones. Here we present trace element and Sr, Nd and Pb isotopic compositions of lavas from the central Tonga-Kermadec arc, west of the contemporary Louisville-Tonga trench intersection, to provide new insights into the effects of Louisville seamount subduction. Elevated (206)Pb/(204)Pb, (208)Pb/(204)Pb, (86)Sr/(87)Sr in lavas from the central Tonga-Kermadec arc front are consistent with localized input of subducted alkaline Louisville material (lavas and volcaniclastics) into sub-arc partial melts.

Implications of a 3.472-3.333 Gyr-old subaerial microbial mat from the Barberton greenstone belt, South Africa for the UV environmental conditions on the early Earth.

Modelling suggests that the UV radiation environment of the early Earth, with DNA weighted irradiances of about three orders of magnitude greater than those at present, was hostile to life forms at the surface, unless they lived in specific protected habitats. However, we present empirical evidence that challenges this commonly held view. We describe a well-developed microbial mat that formed on the surface of volcanic littoral sediments in an evaporitic environment in a 3.

Long-term eruptive activity at a submarine arc volcano.

Three-quarters of the Earth's volcanic activity is submarine, located mostly along the mid-ocean ridges, with the remainder along intraoceanic arcs and hotspots at depths varying from greater than 4,000 m to near the sea surface. Most observations and sampling of submarine eruptions have been indirect, made from surface vessels or made after the fact. We describe here direct observations and sampling of an eruption at a submarine arc volcano named NW Rota-1, located 60 km northwest of the island of Rota (Commonwealth of the Northern Mariana Islands).

Partner verification: restoring shattered images of our intimates.

When spouses received feedback that disconfirmed their impressions of their partners, they attempted to undermine that feedback during subsequent interactions with these partners. Such partner verification activities occurred whether partners construed the feedback as overly favorable or overly unfavorable. Furthermore, because spouses tended to see their partners as their partners saw themselves, their efforts to restore their impressions of partners often worked hand-in-hand with partners' efforts to verify their own views.

Authenticity and positivity strivings in marriage and courtship.

We proposed that married persons would want their spouses to see them as they saw themselves but that dating persons would want their relationship partners to evaluate them favorably. A survey of 176 married and dating couples tested these predictions. Just as married persons were most intimate with spouses whose evaluations verified their self-views, dating persons were most intimate with partners who evaluated them favorably.