From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.

Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.

Brain and behavioural anomalies caused by haploinsufficiency are corrected by vitamin B12.

The brain-related phenotypes observed in 22q11.2 deletion syndrome (DS) patients are highly variable, and their origin is poorly understood. Changes in brain metabolism might contribute to these phenotypes, as many of the deleted genes are involved in metabolic processes, but this is unknown.

Mesopredator release moderates trophic control of plant biomass in a Georgia salt marsh.

Predators regulate communities through top-down control in many ecosystems. Because most studies of top-down control last less than a year and focus on only a subset of the community, they may miss predator effects that manifest at longer timescales or across whole food webs. In southeastern US salt marshes, short-term and small-scale experiments indicate that nektonic predators (e.

Notch4 regulatory T cells and SARS-CoV-2 viremia shape COVID19 survival outcome.

Background: Immune dysregulation and SARS-CoV-2 plasma viremia have been implicated in fatal COVID-19 disease. However, how these two factors interact to shape disease outcomes is unclear.

Methods: We carried out viral and immunological phenotyping on a prospective cohort of 280 patients with COVID-19 presenting to acute care hospitals in Boston, Massachusetts and Genoa, Italy between June 1, 2020 and February 8, 2022.

Differential Anti-Inflammatory Effects of Electrostimulation in a Standardized Setting.

The therapeutic usage of physical stimuli is framed in a highly heterogeneous research area, with variable levels of maturity and of translatability into clinical application. In particular, electrostimulation is deeply studied for its application on the autonomous nervous system, but less is known about the anti- inflammatory effects of such stimuli beyond the . Further, reproducibility and meta-analyses are extremely challenging, owing to the limited rationale on dosage and experimental standardization.