solomonbenjamind

92 Followers
60 Following
192 Posts
Clinical Geneticist, Clinical Director at NHGRI
All posts/opinions are my own
Safe and unsafe duration of fasting for children with MCAD deficiency - PubMed

Therefore, to conclude, we recommend a maximum duration of fasting in children with MCAD deficiency of 8 hours between 6 months and 1 year of age, 10 hours in the second year of life and 12 hours thereafter. From this study, no conclusions can be drawn on the duration of fasting during situations of …

PubMed
Towards Generalist Biomedical AI

Medicine is inherently multimodal, with rich data modalities spanning text, imaging, genomics, and more. Generalist biomedical artificial intelligence (AI) systems that flexibly encode, integrate, and interpret this data at scale can potentially enable impactful applications ranging from scientific discovery to care delivery. To enable the development of these models, we first curate MultiMedBench, a new multimodal biomedical benchmark. MultiMedBench encompasses 14 diverse tasks such as medical question answering, mammography and dermatology image interpretation, radiology report generation and summarization, and genomic variant calling. We then introduce Med-PaLM Multimodal (Med-PaLM M), our proof of concept for a generalist biomedical AI system. Med-PaLM M is a large multimodal generative model that flexibly encodes and interprets biomedical data including clinical language, imaging, and genomics with the same set of model weights. Med-PaLM M reaches performance competitive with or exceeding the state of the art on all MultiMedBench tasks, often surpassing specialist models by a wide margin. We also report examples of zero-shot generalization to novel medical concepts and tasks, positive transfer learning across tasks, and emergent zero-shot medical reasoning. To further probe the capabilities and limitations of Med-PaLM M, we conduct a radiologist evaluation of model-generated (and human) chest X-ray reports and observe encouraging performance across model scales. In a side-by-side ranking on 246 retrospective chest X-rays, clinicians express a pairwise preference for Med-PaLM M reports over those produced by radiologists in up to 40.50% of cases, suggesting potential clinical utility. While considerable work is needed to validate these models in real-world use cases, our results represent a milestone towards the development of generalist biomedical AI systems.

arXiv.org
Q455
You are caring for a patient with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. What would you most likely advise the patient to avoid?
Allergens
0%
Carnitine
0%
Fasting
100%
Sun exposure
0%
Poll ended at .
Friedreich Ataxia

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.

NCBI Bookshelf
@alexwild Merlin wants to have a word. 😊
Q454
Which one of the following pairs of genetic conditions and cardiovascular manifestations is CORRECT (in terms of cardiovascular conditions that occur relatively frequently in people with the corresponding condition)?
Duchenne muscular dystrophy - aortic stenosis
0%
Friedreich ataxia - cardiomyopathy
80%
Myotonic dystrophy type 1 - aortic dissection
20%
Rett syndrome - conotruncal anomalies
0%
Poll ended at .
In a first, scientists find genetic cause for ‘virgin birth’ in animals

Scientists tinkering with fruit fly genes have succeeded in inducing virgin birth in an animal that normally reproduces sexually.

The Washington Post
Our collaborative paper on computer and human vision related to genetic conditions is out on medRxiv! https://gcc02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fmedrxiv.org%2Fcgi%2Fcontent%2Fshort%2F2023.07.26.23293119v1&data=05%7C01%7Csolomonb%40mail.nih.gov%7C0d447c3cfa4949dc1ef008db8f91ca45%7C14b77578977342d58507251ca2dc2b06%7C0%7C0%7C638261628569386114%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C7000%7C%7C%7C&sdata=NzLB30%2BplzsXONbHEvNGXm%2BmOhIyB%2FshAryJdnb7O64%3D&reserved=0
Due to medRxiv's understandable restrictions about showing images of people (even with appropriate consents/permissions), please keep an eye out for the final version, which has some very neat figures that help illustrate the results.
Sorry if it's hard to see the full choices on mobile devices - it seems to show up normally on the desktop version if that helps.