Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

Reforming the innovation system to deliver affordable medicines: a conceptual framework of pharmaceutical innovation as a complex adaptive system (forest) and theory of change.

Background: The current mainstream pharmaceutical innovation system (PIS) is driven by the market-based logic of charging the highest prices societies will bear. Outcomes include unaffordable medicines, restricted access and pressure on health budgets. How can the innovation system change to deliver fairly-priced medicines?

Methods: We inductively developed a novel conceptual framework of the PIS as a complex adaptive system (CAS) analogous to a forest.

The 30-year evolution of oral cholera vaccines: A case study of a collaborative network alternative innovation model.

Cholera outbreaks have been rapidly increasing around the world. While long-term cholera prevention and control measures rely on improvements in water, sanitation, and hygiene, oral cholera vaccines (OCVs) are used for prevention and control in the short-to-medium term. OCVs lack the market incentives available in other more profitable disease areas.

CD-44 targeted nanoparticles for combination therapy in an in vitro model of triple-negative breast cancer: Targeting the tumour inside out.

Triple-negative breast cancer (TNBC) is an aggressive form of breast cancer defined by the lack of three key receptors: estrogen, progesterone, and HER2. This lack of receptors makes TNBC difficult to treat with hormone therapy or drugs, and so it is characterised by a poor prognosis compared to other kinds of breast cancer. This study explores photoactive Poly(lactic-co-glycolic acid) (PLGA) nanoparticles as a potential therapeutic strategy for TNBC.

Pros and Cons of Human Brain Organoids to Study Alzheimer's Disease.

There is increasing pressure for researchers to reduce their reliance on animals, particularly in early-stage research. The main reason for that change arises from the different biological behavior of humans that leads to frequent failure of translating data from bench to bed. The advent of organoid technology ten years ago, along with the feasibility of obtaining brain organoids in most laboratories, has created considerable expectations not exempting frustration.