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Patient Mode — summaries use plain language, avoiding clinical jargon.
Genetics & Precision Medicine
Cohort
SPG4 frequency is 33.3% in Central Chinese HSP families with 7 novel SPAST variants identified
Genetic study finds SPAST variants in one-third of Chinese families with hereditary spastic paraplegia
An observational cohort study of 63 unrelated hereditary spastic paraplegia (HSP) families from Central China found SPAST variants in 33.3% …
Genetic testing found SPAST gene changes in one-third of Chinese families with hereditary spastic paraplegia, including seven new variants a…
Frontiers
Apr 3, 2026
Anesthesiology & Pain Medicine
RCT
Mobile App with Contingency Management Improves Pain Outcomes in Adults with NF1
Can a phone app help adults with NF1 manage their chronic pain?
A randomized trial in 108 adults with Neurofibromatosis Type 1 and chronic pain found that the iCanCope mobile app plus contingency manageme…
Adults with NF1 who used a phone app with rewards reported less pain interference and greater confidence in managing their chronic pain comp…
Apr 2, 2026
Oncology
Case report describes multimodal treatment and single-cell sequencing in NF1 patient with Malignant Triton Tumor
What happens when a rare cancer returns? One young woman's story offers a clue
A case report describes a 23-year-old woman with neurofibromatosis type 1 and Malignant Triton Tumor.
A 23-year-old woman with a rare chest tumor found disease stabilization after surgery failed, using a mix of chemotherapy, targeted therapy,…
Frontiers
Apr 1, 2026