Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Multimodal Data Fusion for a Self-Adaptive, Smart, Serious-Game Ecosystem Under Development. [PDF]
Tao X, Chen P, Eckert M.
europepmc +1 more source
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Explainable multimodal AI and neuro-symbolic clinical decision support system for chronic eye disease management: a digital health implementation study. [PDF]
Wang MH +16 more
europepmc +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source
Dynamic CBME in action: rule-based digital case-based learning to evaluate antibiotic-stewardship reasoning in MBBS learners. [PDF]
Kumar D S, Dandekar S, Prakash GH.
europepmc +1 more source
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
Explainable and domain-adaptive prediction models for refrigerant charging in air conditioning systems within industrial processes. [PDF]
Lee J, Chang J, Kim J, Kwak M, Jung H.
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
A path planning approach for ship collision avoidance integrating BRB reasoning and velocity obstacle algorithm. [PDF]
Zheng M, Wang S, Tu H, Lu Q.
europepmc +1 more source

