We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Zoonotic trypanosomatids in small mammals at a wildlife-urban interface in southeastern Brazil: Implications for transmission risk. [PDF]
Madureira ACC +15 more
europepmc +1 more source
LeafFit: Plant Assets Creation from 3D Gaussian Splatting
Abstract We propose LeafFit, a pipeline that converts 3D Gaussian Splatting (3DGS) of individual plants into editable, instanced mesh assets. While 3DGS faithfully captures complex foliage, its high memory footprint and lack of mesh topology make it incompatible with traditional game production workflows. We address this by leveraging the repetition of
Chang Luo, Nobuyuki Umetani
wiley +1 more source
Microbial signature of pediatric Crohn's disease: Differentiation from functional gastrointestinal disorders and relationship with increased disease activity. [PDF]
Levine J +12 more
europepmc +1 more source
The dynamics of coastal macroalgal assemblages after the Fundão dam disaster: challenges and lessons from impact assessment. [PDF]
Carneiro IM +8 more
europepmc +1 more source
Cerebral palsy in Brazil: A multicentre, cross‐sectional, descriptive study
Main clinical and perinatal characteristics of children and adolescents with cerebral palsy from a nationwide rehabilitation network in Brazil. Abstract Aim To describe individuals with cerebral palsy (CP) followed at the SARAH Network of Rehabilitation Hospitals in Brazil. Method This was a multicentre, cross‐sectional, descriptive study.
Eliana Valverde Magro Borigato +16 more
wiley +1 more source
A new chigger species of the genus Hannemania Oudemans, 1911 (Acariformes: Prostigmata: Leeuwenhoekiidae) parasite of the Miranda's white-lipped frog Leptodactylus macrosternum (Anura: Leptodactylidae) in the Caatinga biome, Brazil. [PDF]
Felix-Nascimento G +6 more
europepmc +1 more source
Who prefers the dark? Daily activity of dung beetles from an Amazonian region
Daily activity patterns shape how dung beetle species coexist in Amazonian forests, revealing temporal niches that reduce competition and structure biodiversity. We compared species richness, abundance and assemblage composition of dung beetles sampled during day and night in a conserved terra‐firme forest in the Brazilian Amazon. Although richness and
Leonardo Vilas‐Bôas M. P. de Cerqueira +8 more
wiley +1 more source
Bibliometric analysis of neurointerventional surgery: The scientific production of the specialty in the two leading specialty-specific journals. [PDF]
Brenner LB +9 more
europepmc +1 more source
ABSTRACT Background Artificial intelligence (AI) is already a powerful tool that is rapidly growing within the dental sector. Reports of structure and characteristics of AI responses to patient scenarios are limited. Purpose To analyse characteristics and structure of AI responses to prompts for treatment planning alternatives and patient alternatives ...
David C Johnsen +4 more
wiley +1 more source

