58 research outputs found

    Genotype-phenotype features of germline variants of the TMEM127 pheochromocytoma susceptibility gene: A 10-year update

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    Purpose: This work aimed to evaluate genotype-phenotype associations in individuals carrying germline variants of transmembrane protein 127 gene (TMEM127), a poorly known gene that confers susceptibility to pheochromocytoma (PHEO) and paraganglioma (PGL). Design: Data were collected from a registry of probands with TMEM127 variants, published reports, and public databases. Main Outcome Analysis: Clinical, genetic, and functional associations were determined. Results: The cohort comprised 110 index patients (111 variants) with a mean age of 45 years (range, 21-84 years). Females were predominant (76 vs 34, P <. 001). Most patients had PHEO (n = 94; 85.5%), although PGL (n = 10; 9%) and renal cell carcinoma (RCC, n = 6; 5.4%) were also detected, either alone or in combination with PHEO. One-third of the cases had multiple tumors, and known family history was reported in 15.4%. Metastatic PHEO/PGL was rare (2.8%). Epinephrine alone, or combined with norepinephrine, accounted for 82% of the catecholamine profiles of PHEO/PGLs. Most variants (n = 63) occurred only once and 13 were recurrent (2-12 times). Although nontruncating variants were less frequent than truncating changes overall, they were predominant in non-PHEO clinical presentations (36% PHEO-only vs 69% other, P <. 001) and clustered disproportionately within transmembrane regions (P <. 01), underscoring the relevance of these domains for TMEM127 function. Integration of clinical and previous experimental data supported classification of variants into 4 groups based on mutation type, localization, and predicted disruption. Conclusions: Patients with TMEM127 variants often resemble sporadic nonmetastatic PHEOs. PGL and RCC may also co-occur, although their causal link requires further evaluation. We propose a new classification to predict variant pathogenicity and assist with carrier surveillance.Fil: Armaiz Pena, Gustavo. University Of Texas Health Science Center At San Antonio;; Estados UnidosFil: Flores, Shahida K.. No especifíca;Fil: Cheng, Zi Ming. No especifíca;Fil: Zhang, Xhingyu. No especifíca;Fil: Esquivel, Emmanuel. No especifíca;Fil: Poullard, Natalie. No especifíca;Fil: Vaidyanathan, Anusha. No especifíca;Fil: Liu, Qianqian. No especifíca;Fil: Michalek, Joel. No especifíca;Fil: Santillan Gomez, Alfredo A.. No especifíca;Fil: Liss, Michael. No especifíca;Fil: Ahmadi, Sara. No especifíca;Fil: Katselnik, Daniel. No especifíca;Fil: Maldonado, Enrique. No especifíca;Fil: Salgado, Sarimar Agosto. No especifíca;Fil: Jimenez, Camilo. No especifíca;Fil: Fishbein, Lauren. No especifíca;Fil: Hamidi, Oksana. No especifíca;Fil: Else, Tobias. No especifíca;Fil: Lechan, Ron. Tufts Medical Center; Estados UnidosFil: Tischler, Art S.. Tufts Medical Center; Estados UnidosFil: Benn, Diana E.. No especifíca;Fil: Dwight, Trisha. University of Technology Sydney; AustraliaFil: Clifton Bligh, Rory. University of Technology Sydney; AustraliaFil: Sanso, Elsa Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Barontini, Marta Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Vincent, Deepa. Massachusetts Institute of Technology; Estados UnidosFil: Aronin, Neil. Massachusetts Institute of Technology; Estados UnidosFil: Biondi, Bernadette. University of Naples Federico II; ItaliaFil: Koops, Maureen. University of Texas Health San Antonio; Estados UnidosFil: Bowhay Carnes, Elizabeth. No especifíca;Fil: Gimenez Roqueplo, Anne Paule. No especifíca;Fil: Alvarez Eslava, Andrea. No especifíca;Fil: Bruder, Jan M.. No especifíca;Fil: Kitano, Mio. No especifíca;Fil: Burnichon, Nelly. No especifíca;Fil: Ding, Yanli. No especifíca;Fil: Dahia, Patricia L. M.. No especifíca

    Biodiversity of leaf litter fungi in streams along a latitudinal gradient

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    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. The study is based on fungal commu- nities colonizing standardized plant litter in 19 globally distributed stream locations between 69°N and 44°S. Fungal richness suggests a hump-shaped distribution along the latitudinal gradient. Strikingly, community com- position of fungi was more clearly related to thermal preferences than to biogeography. Our results suggest that identifying differences in key environmental drivers, such as temperature, among taxa and ecosystem types is critical to unravel the global patterns of aquatic fungal diversity

    Roadmap on holography

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    From its inception holography has proven an extremely productive and attractive area of research. While specific technical applications give rise to 'hot topics', and three-dimensional (3D) visualisation comes in and out of fashion, the core principals involved continue to lead to exciting innovations in a wide range of areas. We humbly submit that it is impossible, in any journal document of this type, to fully reflect current and potential activity; however, our valiant contributors have produced a series of documents that go no small way to neatly capture progress across a wide range of core activities. As editors we have attempted to spread our net wide in order to illustrate the breadth of international activity. In relation to this we believe we have been at least partially successful.This work was supported by Ministerio de EconomĂ­a, Industria y Competitividad (Spain) under projects FIS2017-82919-R (MINECO/AEI/FEDER, UE) and FIS2015-66570-P (MINECO/FEDER), and by Generalitat Valenciana (Spain) under project PROMETEO II/2015/015

    Global Patterns and Controls of Nutrient Immobilization On Decomposing Cellulose In Riverine Ecosystems

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    Microbes play a critical role in plant litter decomposition and influence the fate of carbon in rivers and riparian zones. When decomposing low-nutrient plant litter, microbes acquire nitrogen (N) and phosphorus (P) from the environment (i.e., nutrient immobilization), and this process is potentially sensitive to nutrient loading and changing climate. Nonetheless, environmental controls on immobilization are poorly understood because rates are also influenced by plant litter chemistry, which is coupled to the same environmental factors. Here we used a standardized, low-nutrient organic matter substrate (cotton strips) to quantify nutrient immobilization at 100 paired stream and riparian sites representing 11 biomes worldwide. Immobilization rates varied by three orders of magnitude, were greater in rivers than riparian zones, and were strongly correlated to decomposition rates. In rivers, P immobilization rates were controlled by surface water phosphate concentrations, but N immobilization rates were not related to inorganic N. The N:P of immobilized nutrients was tightly constrained to a molar ratio of 10:1 despite wide variation in surface water N:P. Immobilization rates were temperature-dependent in riparian zones but not related to temperature in rivers. However, in rivers nutrient supply ultimately controlled whether microbes could achieve the maximum expected decomposition rate at a given temperature

    Globally, songs and instrumental melodies are slower, higher, and use more stable pitches than speech: a registered report

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    Both music and language are found in all known human societies, yet no studies have compared similarities and differences between song, speech, and instrumental music on a global scale. In this Registered Report, we analyzed two global datasets: (i) 300 annotated audio recordings representing matched sets of traditional songs, recited lyrics, conversational speech, and instrumental melodies from our 75 coauthors speaking 55 languages; and (ii) 418 previously published adult-directed song and speech recordings from 209 individuals speaking 16 languages. Of our six preregistered predictions, five were strongly supported: Relative to speech, songs use (i) higher pitch, (ii) slower temporal rate, and (iii) more stable pitches, while both songs and speech used similar (iv) pitch interval size and (v) timbral brightness. Exploratory analyses suggest that features vary along a “musi-linguistic” continuum when including instrumental melodies and recited lyrics. Our study provides strong empirical evidence of cross-cultural regularities in music and speech

    Prescribed exercise programs may not be effective in reducing impairments and improving activity during upper limb fracture rehabilitation: a systematic review

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    Question: What is the effect of exercise on increasing participation and activity levels and reducing impairment in the rehabilitation of people with upper limb fractures? Design: Systematic review of controlled trials. Participants: Adults following an upper limb fracture. Intervention: Any exercise therapy program, including trials where exercise was delivered to both groups provided that the groups received different amounts of exercise. Outcome measures: Impairments of body structure and function, activity limitations and participation restrictions. Results: Twenty-two trials were identified that evaluated 1299 participants with an upper limb fracture. There was insufficient evidence from 13 trials to support or refute the effectiveness of home exercise therapy compared with therapist-supervised exercise or therapy that included exercise following distal radius or proximal humeral fractures. There was insufficient evidence from three trials to support or refute the effectiveness of exercise therapy compared with advice/no exercise intervention following distal radius fracture. There was moderate evidence from five trials (one examining distal radius fracture, one radial head fracture, and three proximal humeral fracture) to support commencing exercise early and reducing immobilisation in improving activity during upper limb rehabilitation compared with delayed exercise and mobilisation. There was preliminary evidence from one trial that exercise to the non-injured arm during immobilisation might lead to short-term benefits on increasing grip strength and range of movement following distal radius fracture. Less than 40% of included trials reported adequate exercise program descriptions to allow replication according to the TIDieR checklist. Conclusion: There is emerging evidence that current prescribed exercise regimens may not be effective in reducing impairments and improving activity following an upper limb fracture. Starting exercise early combined with a shorter immobilisation period is more effective than starting exercise after a longer immobilisation period. Registration: CRD42016041818. [Bruder AM, Shields N, Dodd KJ, Taylor NF (2017) Prescribed exercise programs may not be effective in reducing impairments and improving activity during upper limb fracture rehabilitation: a systematic review. Journal of Physiotherapy 63: 205–220

    Interventionskonzept zur Reduzierung der physischen Belastung am Arbeitsplatz „Kindertagesstätte“

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    Das von der Deutschen gesetzlichen Unfallversicherung geförderte Projekt "ErgoKiTa - Prävention von Muskel-Skeletterkrankungen bei Erzieherinnen und Erziehern in Kindertageseinrichtungen (KiTas)" zielt auf die Entwicklung von Lösungsansätzen zur Verbesserung der beruflichen und gesundheitlichen Situation des pädagogischen Personals in KiTas sowie auf die Evaluierung der Effekte von Präventionsmaßnahmen vor allem zur Reduzierung der körperlichen Belastungen ab. Ausgehend von den wesentlichen körperlichen Belastungen wie ungünstigen Körperhaltungen wurde ein Interventionskonzept entwickelt, das beispielhaft umgesetzt und evaluiert wurde. Dieses Konzept wird im Beitrag näher erläutert

    Modeling Transport in Streams

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    Analyse physischer Belastungen und Beanspruchungen von Erzieherinnen in Kindertageseinrichtungen

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    Die Arbeitssituation von pädagogischem Personal in Kindertagesstätten ist in der arbeitswissenschaftlichen Forschung nicht hinreichend bekannt. Daher wird das Projekt „ErgoKiTa - Prävention von Muskel Skeletterkrankungen bei Erzieherinnen und Erziehern in Kindertageseinrichtungen (KiTas)“ von der Deutschen Gesetzlichen Unfallversicherung(DGUV) gefördert. Das Ziel dieser Interventionsstudie ist, mit Hilfe umfassender objektiver und subjektiver Analysen die berufliche Situation von pädagogischem Personal in deutschen Kindertageseinrichtungen arbeitsmedizinisch systematisch zu untersuchen und daraus Lösungsansätze zur Verbesserung der beruflichen und gesundheitlichen Situation in Kitas zu entwickeln und zu evaluieren. Dieser Beitrag stellt die Teiluntersuchung der Ist-Zustands Analyse dar, die zum Ziel hat, durch systematische Messungen objektive Belastungsprofile im KiTa-Alltag zu erfassen und Belastungsschwerpunkte zu identifizieren
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