Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren +10 more
wiley +1 more source
Impact of duration of chest tube drainage on pain after cardiac surgery [PDF]
, 2000 Xavier M. Mueller +5 more
openalex +1 more source
MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
RadPhi-3: Small Language Models for Radiology [PDF]
arXivLLM based copilot assistants are useful in everyday tasks. There is a proliferation in the exploration of AI assistant use cases to support radiology workflows in a reliable manner. In this work, we present RadPhi-3, a Small Language Model instruction tuned from Phi-3-mini-4k-instruct with 3.8B parameters to assist with various tasks in radiology ...
arxiv
“Coffee grounds” through the chest tube [PDF]
, 2000 Abdullah F. Mobeireek, Khaled Alkattan
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
FactCheXcker: Mitigating Measurement Hallucinations in Chest X-ray Report Generation Models [PDF]
arXivMedical vision-language model models often struggle with generating accurate quantitative measurements in radiology reports, leading to hallucinations that undermine clinical reliability. We introduce FactCheXcker, a modular framework that de-hallucinates radiology report measurements by leveraging an improved query-code-update paradigm.
arxiv
Discussion to: The process and safety of removing chest tubes 4 to 12 hours after robotic pulmonary lobectomy and segmentectomy. [PDF]
JTCVS Open, 2023 europepmc +1 more source
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source
Challenges for Responsible AI Design and Workflow Integration in Healthcare: A Case Study of Automatic Feeding Tube Qualification in Radiology [PDF]
arXivNasogastric tubes (NGTs) are feeding tubes that are inserted through the nose into the stomach to deliver nutrition or medication. If not placed correctly, they can cause serious harm, even death to patients. Recent AI developments demonstrate the feasibility of robustly detecting NGT placement from Chest X-ray images to reduce risks of sub-optimally ...
arxiv