High dose genistein in Sanfilippo syndrome: A randomised controlled trial.

The aim of this study was to evaluate the efficacy of high dose genistein aglycone in Sanfilippo syndrome (mucopolysaccharidosis type III). High doses of genistein aglycone have been shown to correct neuropathology and hyperactive behaviour in mice, but efficacy in humans is uncertain. This was a single centre, double-blinded, randomised, placebo-controlled study with open-label extension phase.

Orchid conservation and research: An analysis of gaps and priorities for globally Red Listed species.

Orchids are among the most threatened taxa globally due to increasing anthropogenic threats, inherent rarity and specific conservation needs. But what are the global research and conservation priorities for this charismatic group of plants? Using information for 595 orchids on the IUCN Red List, we reviewed past research and identified key research and conservation priorities. These included understanding threats, monitoring orchid populations and habitats, species management in ex situ conservation, genome resource banks and artificial propagation, land and habitat protection and education and awareness through communication.

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

Unlabelled: Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem cell transplantation (HSCT) with variable outcome.

Quantifying anthropogenic threats to orchids using the IUCN Red List.

Orchids are diverse, occur in a wide range of habitats and dominate threatened species lists, but which orchids are threatened, where and by what? Using the International Union for Conservation of Nature Red List, we assessed the range and diversity of threats to orchids globally including identifying four threat syndromes: (1) terrestrial orchids in forests that are endemic to a country and threatened by illegal collecting; (2) orchids threatened by climate change, pollution, transportation and disturbance/development for tourism, and recreation activities, often in East Asia; (3) epiphytic orchids in Sub-Saharan Africa including Madagascar with diverse threats; and (4) South and Southeast Asia orchids threatened by land clearing for shifting agriculture. Despite limitations in the Red List data, the results highlight how conservation efforts can focus on clusters of co-occurring threats in regions while remaining aware of the trifecta of broad threats from plant collecting, land clearing and climate change.

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.

Objective: Patients with Niemann-Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with IBD, but neither the significance nor the functional mechanism of this association is clear. We studied bacterial handling and antibacterial autophagy in patients with NPC1.

Design: We characterised intestinal inflammation in 14 patients with NPC1 who developed IBD.