Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

OBJECTIVE: To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). METHODS: We characterized a consanguineous family of Yazidian-Turkish descent with IMNEPD. The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. We performed whole-exome sequencing followed by bioinformatic analysis and Sanger sequencing on affected and unaffected family members. The effect of mutations in the candidate gene was studied in wild-type and mutant mice and in patient and control fibroblasts. RESULTS: In a consanguineous family with two individuals with IMNEPD, we identified a homozygous frameshift mutation in the previously not disease-associated peptidyl-tRNA hydrolase 2 (PTRH2) gene. PTRH2 encodes a primarily mitochondrial protein involved in integrin-mediated cell survival and apoptosis signaling. We show that PTRH2 is highly expressed in the developing brain and is a key determinant in maintaining cell survival during human tissue development. Moreover, we link PTRH2 to the mTOR pathway and thus the control of cell size. The pathology suggested by the human phenotype and neuroimaging studies is supported by analysis of mutant mice and patient fibroblasts. INTERPRETATION: We report a novel disease phenotype, show that the genetic cause is a homozygous mutation in the PTRH2 gene, and demonstrate functional effects in mouse and human tissues. Mutations in PTRH2 should be considered in patients with undiagnosed multisystem neurologic, endocrine, and pancreatic disease

A Standardized Morpho-Functional Classification of the Planet’s Humipedons

It was time to take stock. We modified the humipedon classification key published in 2018 to make it easier and more practical. This morpho-functional taxonomy of the topsoil (humipedon) was only available in English; we also translated it into French and Italian. A standardized morphofunctional classification of humipedons (roughly the top 30–40 cm of soil: organic and organomineral surface horizons) would allow for a better understanding of the functioning of the soil ecosystem. This paper provides the founding principles of the classification of humipedon into humus systems and forms. With the recognition of a few diagnostic horizons, all humus systems can be determined. The humus forms that make up these humus systems are revealed by measuring the thicknesses of the diagnostic horizons. In the final part of the article, several figures represent the screenshots of a mobile phone or tablet application that allows for a fast recall of the diagnostic elements of the classification in the field. The article attempts to promote a standardized classification of humipedons for a global and shared management of soil at planet level

A standardized morpho-functional classification of the planet’s humipedons

It was time to take stock. We modified the humipedon classification key published in 2018 to make it easier and more practical. This morpho-functional taxonomy of the topsoil (humipedon) was only available in English; we also translated it into French and Italian. A standardized morphofunctional classification of humipedons (roughly the top 30–40 cm of soil: organic and organomineral surface horizons) would allow for a better understanding of the functioning of the soil ecosystem. This paper provides the founding principles of the classification of humipedon into humus systems and forms. With the recognition of a few diagnostic horizons, all humus systems can be determined. The humus forms that make up these humus systems are revealed by measuring the thicknesses of the diagnostic horizons. In the final part of the article, several figures represent the screenshots of a mobile phone or tablet application that allows for a fast recall of the diagnostic elements of the classification in the field. The article attempts to promote a standardized classification of humipedons for a global and shared management of soil at planet level

A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic

The COVID-19 pandemic has increased negative emotions and decreased positive emotions globally. Left unchecked, these emotional changes might have a wide array of adverse impacts. To reduce negative emotions and increase positive emotions, we tested the effectiveness of reappraisal, an emotion-regulation strategy that modifies how one thinks about a situation. Participants from 87 countries and regions (n = 21,644) were randomly assigned to one of two brief reappraisal interventions (reconstrual or repurposing) or one of two control conditions (active or passive). Results revealed that both reappraisal interventions (vesus both control conditions) consistently reduced negative emotions and increased positive emotions across different measures. Reconstrual and repurposing interventions had similar effects. Importantly, planned exploratory analyses indicated that reappraisal interventions did not reduce intentions to practice preventive health behaviours. The findings demonstrate the viability of creating scalable, low-cost interventions for use around the world

Key Players In Neurodegenerative Disorders In Focusnew Insights Into The Proteomic Profile Of Alzheimer's Disease, Schizophrenia, Als, And Multiple Sclerosis24th Hupo Bpp Workshop: September 29, 2015, Vancouver, Canada

The HUPO Brain Proteome Project (HUPO BPP) held its 24th workshop in Vancouver, Canada, September 29, 2015. The focus of the autumn workshop was on new insights into the proteomic profile of Alzheimer's disease, schizophrenia, ALS and multiple sclerosis.1610471050National Institute of Health [R01AG040311]John Douglas French Alzheimer FoundationAlbert Einstein Research Institute - Sao PauloBrain Research Center, The 21st Century Frontier Research Program of the Ministry of Education, Science and Technology, Republic of Korea [2009K001266]LIM-22 University of Sao Paulo Medical Schoo

Multiple recruitment limitation causes arrested succession in mediterranean cork oak systems

Lack of tree regeneration and persistency of species-poor shrublands represent a growing problem across Mediterranean evergreen oak forests. What constrains forest regeneration is poorly understood, and restoration attempts have been largely unsuccessful. We assessed the contribution of four different mechanisms of tree recruitment limitation (that is, source, dispersal, germination, and establishment) in a cork oak (Quercus suber) system in southern Portugal. Using a combination of field studies and experiments, we quantified seed production, seed removal and dispersal, seed survival and germination, seedling establishment and survival, as well as cork oak natural regeneration for the three dominant vegetation types in this system (Cistus ladanifer shrubland, oak forest, and oak savanna). We found that all four forms of cork oak recruitment limitation were significantly more severe in shrublands than in oak forests and savannas, so that oak seedling recruitment in shrubland was impeded in multiple ways. Our results explain why transitions from shrublands to oak savannas and forests are extremely difficult, and that the release from arrested succession in this system requires the simultaneous relief of multiple constraints on recruitment limitation in the early life history of oaks. These results have important implications for the restoration and conservation of Mediterranean oak systems