RESUMO

Background and Objectives: Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (SMN1) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA. Methods: A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations. Results: The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA. Discussion: Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.

RESUMO

Las aves y mamíferos constituyen la principal fuente de proteína animal para las poblaciones humanas originarias de la selva amazónica. La carne es destinada a la alimentación y otras partes del cuerpo son utilizadas en artesanías, adornos y objetos de uso cotidiano. Considerando el aprovechamiento y uso de la fauna, los objetivos del estudio fueron a) identificar las especies de aves y mamíferos aprovechadas por las poblaciones locales, b) determinar el uso de las aves y mamíferos, y c) calcular el valor económico de la biomasa extraída. Se realizó el registro del aprovechamiento de especies, mediante encuestas y la información recopilada fue sistematizada. Como resultado se encontró que en el Bajo Urubamba se aprovechan 10 especies de aves y 12 de mamíferos. El paujil (Mitu tuberosum) y las perdices (Crypturellus sp. y Tinamus tao) son las aves más aprovechadas. Se identificaron al majáz (Cuniculus paca), venado rojo (Mazama americana) y tapir o sachavaca (Tapirus terrestris) como los mamíferos con mayor biomasa extraída. El principal uso de la diversidad capturada es la alimentación de subsistencia.

Birds and mammals are the most important resource of protein for original groups of the amazon rainforest. Most of the meat is used for food and other parts of the animals are designates for the production of handicrafts, ornaments and other daily objects. Considering the use and exploitation of the fauna, the objectives of this study were: a) to identify the species of birds and mammals used by the local population; b) to determine what the uses of this animal are, and c) to calculate the economic value of the biomass extracted. We registered the exploitation and use of the species through surveys between the families. All the information was recorded, analyzed and systematized. We found that in the Lower Urubamba River, local families use 10 species of birds and 12 species of mammals. Paujil (Mitu tuberosum), Tinammus (Crypturellus sp. and Tinamus tao) are the species more commonly used. The lowland pacca (Cuniculus paca), Red brocket deer (Mazama americana) and tapir (Tapirus terrestris) are the mammals with the more extracted biomass. The most important use of these animals is for food (as meat) for subsistence of the families.

RESUMO

Se presenta una lista de cigarritas registradas para Cusco, conteniendo 111 géneros y 203 especies. Esta lista incluye especies citadas en la literatura y también de material depositado en la colección de la Universidad Nacional de San Antonio Abad del Cusco. Las cigarritas identificadas por los autores fueron colectadas de 8 provincias de Cusco: Anta, Calca, Canchis, Cusco, La Convención, Paucartambo, Quispicanchi y Urubamba.

Assuntos

RESUMO

Corynaea crassa is a root hemiparasitc plant infrequent in nature. There is little information regarding their natural history, in particular their host range. In this study we dig 32 tubers and followed their parasitized roots to determine the species host. We found Bocconia frutescens (Papaveraceae), Verbesina sp. (Asteraceae), Cayaponia sp. (Cucurbitaceae) y Palicourea sp.(Rubiaceae) as natural hosts of C. crassa. This is the first host record available for C. crassa and provides some bases for its conservation in natural habitats.

Corynaea crassa es una planta hemiparásita de raíz poco común y de la cual sabemos muy poco acerca de su historia natural y en particular sobre su rango de hospederos. En este estudio excavamos 32 tubérculos de dicha especie y seguimos las raíces que estaban parasitando para determinar su identidad. Encontramos Bocconia frutescens (Papaveraceae), Verbesina sp. (Asteraceae), Cayaponia sp. (Cucurbitaceae) y Palicourea sp. (Rubiaceae). Este es el primer registro de hospederos disponible para la especies y este tipo de información es de gran utilidad para las conservación de C. crassa en hábitats naturales.