Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than , and its potential impact on rGH treatment indication.

Land use drives detritivore size structure and decomposition through shifts in resource quality and quantity.

Land use change and nutrient pollution are two pervasive stressors that can modify carbon cycling, as they influence the inputs and the transformation of detritus. Understanding their impact on stream food webs and on diversity is particularly pressing, as streams are largely fuelled by detrital material received from the adjacent riparian environment. Here we assess how a switch from native deciduous forest to Eucalyptus plantations and nutrient enrichment alter the size distribution of stream detritivore communities and decomposition rates of detritus.

Pappalysins and Stanniocalcins and Their Relationship With the Peripheral IGF Axis in Newborns and During Development.

Context: Pappalysins (PAPP-A, PAPP-A2) modulate body growth by increasing insulin-like growth factor I (IGF-I) bioavailability through cleavage of insulin-like growth factor binding proteins (IGFBPs) and are inhibited by stanniocalcins (STC1, STC2). Normative data on these novel factors, as well as on free IGF-I and uncleaved fractions of IGFBPs, are not well established.

Objective: This work aimed to determine serum concentrations of PAPP-A, PAPP-A2, STC1, and STC2 in relationship with other growth hormone (GH)-IGF axis parameters during development.

Temperature Sensitivity of Microbial Litter Decomposition in Freshwaters: Role of Leaf Litter Quality and Environmental Characteristics.

Ongoing global warming is expected to alter temperature-dependent processes. Nevertheless, how co-occurring local drivers will influence temperature sensitivity of plant litter decomposition in lotic ecosystems remains uncertain. Here, we examined the temperature sensitivity of microbial-mediated decomposition, microbial respiration, fungal biomass and leaf nutrients of two plant species varying in litter quality.

Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency.

PAPP-A2 deficiency is a novel syndrome characterized by short stature due to low IGF bioactivity, skeletal abnormalities and decreased bone mineral density (BMD). Treatment with recombinant human IGF-1 (rhIGF-1) for 1 year demonstrated to increase growth velocity and BMD, without reported adverse effects, but data regarding the long-term efficacy and safety of rhIGF-1 administration in this entity has not yet been reported. Two Spanish siblings with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.

Latitude dictates plant diversity effects on instream decomposition.

Running waters contribute substantially to global carbon fluxes through decomposition of terrestrial plant litter by aquatic microorganisms and detritivores. Diversity of this litter may influence instream decomposition globally in ways that are not yet understood. We investigated latitudinal differences in decomposition of litter mixtures of low and high functional diversity in 40 streams on 6 continents and spanning 113° of latitude.

Development and validation of a questionnaire to measure empowerment in adult patients with atopic dermatitis. The DATEMP questionnaire.

Background And Objectives: In recent years, the hypothesis that increasing the empowerment of patients can help to improve health outcomes and rationalize the use of health services has become relevant, especially for chronic diseases. Developing validated measurement tools is necessary to achieve this goal. In the field of dermatology, there are few studies related to empowerment of the patient.

Plant diversity loss affects stream ecosystem multifunctionality.

Biodiversity loss is occurring globally at unprecedented rates, altering the functioning of the Earth's ecosystems. Multiple processes are often key components of ecosystem functioning, but it is unclear how biodiversity loss affects ecosystem multifunctionality (i.e.

Effect of Flywheel Resistance Training on Balance Performance in Older Adults. A Randomized Controlled Trial.

This study aimed to assess the effects of flywheel resistance exercise training on postural stability and mobility in older adults and to investigate whether changes in power are related to improvements in balance. Thirty-six participants were randomly allocated to either a flywheel resistance exercise training group (ETG; n = 18) who underwent 6-weeks of training (2 to 3 days per week) or a control group (CON; n = 18). The average power and Mean Propulsive Velocity (MPV) were computed.

Biodiversity of leaf litter fungi in streams along a latitudinal gradient.

Global patterns of biodiversity have emerged for soil microorganisms, plants and animals, and the extraordinary significance of microbial functions in ecosystems is also well established. Virtually unknown, however, are large-scale patterns of microbial diversity in freshwaters, although these aquatic ecosystems are hotspots of biodiversity and biogeochemical processes. Here we report on the first large-scale study of biodiversity of leaf-litter fungi in streams along a latitudinal gradient unravelled by Illumina sequencing.

Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center.

Background The approach to the clinical management of Graves' disease (GD) is debatable. This study aimed to identify predictors of remission in pediatric GD. Methods A longitudinal study of 36 children and adolescents with GD followed from 1997 to 2017 at a single tertiary hospital was performed.

Interactions between large and small detritivores influence how biodiversity impacts litter decomposition.

Understanding how biodiversity loss influences plant litter decomposition-that is, the biologically mediated conversion of coarse to fine particulate organic matter-is crucial to predict changes in the functioning of many stream ecosystems, where detrital food webs are dominant. Rates of litter decomposition are influenced by detritivore diversity, but the mechanisms behind this relationship are uncertain. As differences in detritivore body size are a major determinant of interspecific interactions, they should be key for predicting effects of detritivore diversity on decomposition.

Leaf traits drive plant diversity effects on litter decomposition and FPOM production in streams.

Biodiversity loss in riparian forests has the potential to alter rates of leaf litter decomposition in stream ecosystems. However, studies have reported the full range of positive, negative and no effects of plant diversity loss on decomposition, and there is currently no explanation for such inconsistent results. Furthermore, it is uncertain whether plant diversity loss affects other ecological processes related to decomposition, such as fine particulate organic matter production or detritivore growth, which precludes a thorough understanding of how detrital stream food webs are impacted by plant diversity loss.

rhIGF-1 Treatment Increases Bone Mineral Density and Trabecular Bone Structure in Children with PAPP-A2 Deficiency.

Aim: Our objective was to determine changes in bone mineral density (BMD), trabecular bone score (TBS), and body composition after 2 years of therapy with recombinant human insulin-like growth factor-1 (rhIGF-1) in 2 prepubertal children with a complete lack of circulating PAPP-A2 due to a homozygous mutation in PAPP-A2 (p.D643fs25*) resulting in a premature stop codon.

Methods: Body composition, BMD, and bone structure were determined by dual-energy X-ray absorptiometry at baseline and after 1 and 2 years of rhIGF-1 treatment.

Responses of Aquatic Hyphomycetes to Temperature and Nutrient Availability: a Cross-transplantation Experiment.

Aquatic hyphomycetes represent a large component of the microbial assemblage that decomposes submerged leaf-litter in fluvial ecosystems. The structure and activity of these fungal decomposers depend on environmental factors. Fungal communities may adapt to local habitat conditions; however, little is known about how fungal communities respond to abrupt changes in factors such as nutrient availability and temperature.

Contrasting habitats but comparable microbial decomposition in the benthic and hyporheic zone.

Input of allochthonous leaf litter is the main carbon source for heterotrophic metabolism in low-order forested streams. A major part of this leaf litter is accumulated at benthic retention structures or buried in the hyporheic zone. As a result of hyporheic sediment characteristics, hyporheic physicochemistry differs from that of the benthic zone selecting the microbial community.

Structural and functional recovery of macroinvertebrate communities and leaf litter decomposition after a marked drought: Does vegetation type matter?

Climate change and anthropogenic disturbances are expected to lead to more intense and frequent droughts, with potentially severe effects on structure and function of perennial temperate streams. However, more information is required on whether streams flowing through basins already affected by exotic plantations will respond to droughts in the same way as streams under native forests. The recolonisation dynamics of benthic macroinvertebrate communities and leaf litter decomposition rates were examined in nine streams of oceanic-temperate climate that differed in catchment vegetation (three streams draining native deciduous forest, three in pine plantations and three in eucalypt plantations) after a marked drought.

River ecosystem processes: A synthesis of approaches, criteria of use and sensitivity to environmental stressors.

River ecosystems are subject to multiple stressors that affect their structure and functioning. Ecosystem structure refers to characteristics such as channel form, water quality or the composition of biological communities, whereas ecosystem functioning refers to processes such as metabolism, organic matter decomposition or secondary production. Structure and functioning respond in contrasting and complementary ways to environmental stressors.