Publications by authors named "Alex Gimeno"
Article Synopsis
- The study analyzed the prevalence of genetic diseases in the Undiagnosed Diseases Network (UDN) cohort, focusing on subjects who underwent genome sequencing before joining the study.
- Out of 2,799 subjects, 27.4% were diagnosed with a condition, with the majority having a single diagnosis primarily related to genetic diseases.
- The findings indicate that even with genome sequencing, there can still be diagnostic challenges, as some individuals had multiple genetic diagnoses or concurrent nonmolecular diseases, possibly complicating the understanding of their conditions.
Objectives: The aim of this study was to assess the completeness and readability of generative pre-trained transformer-4 (GPT-4)-generated discharge instructions at prespecified reading levels for common pediatric emergency room complaints.
Materials And Methods: The outputs for 6 discharge scenarios stratified by reading level (fifth or eighth grade) and language (English, Spanish) were generated fivefold using GPT-4. Specifically, 120 discharge instructions were produced and analyzed (6 scenarios: 60 in English, 60 in Spanish; 60 at a fifth-grade reading level, 60 at an eighth-grade reading level) and compared for completeness and readability (between language, between reading level, and stratified by group and reading level).
In infants, hypercalcemia from elevated parathyroid hormone-related protein (PTHrP) is rare, often signaling neoplasm or renal or urinary anomalies. We report an infant who presented with failure to thrive and hypercalcemia at 10 months old, with initial evaluation showing elevated PTHrP of unclear etiology with imaging negative for neoplasm and no structural anomalies of the kidneys or ureters on ultrasound. Within 6 months of presentation, the patient developed nephrotic syndrome and by 2 years had progressed to end-stage kidney disease, necessitating kidney transplantation.
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- The study investigates the common issue of diagnostic delays in monogenic diseases, highlighting significant variability in research design and outcomes.
- A total of 259 articles were reviewed, revealing a median diagnostic delay of 5 years, with shorter delays for childhood metabolic, immunity, and developmental disorders.
- Major gaps were identified, including a lack of studies in low-income countries and insufficient research on many genetic diseases, emphasizing the need for standardized measures in future research.
Emerging evidence points to the role of the endocannabinoid system in long-term stress-induced neural remodeling with studies on stress-induced endocannabinoid dysregulation focusing on cerebral changes that are temporally proximal to stressors. Little is known about temporally distal and sex-specific effects, especially in cerebellum, which is vulnerable to early developmental stress and is dense with cannabinoid receptors. Following limited bedding at postnatal days 2-9, adult (postnatal day 70) cerebellar and hippocampal endocannabinoids, related lipids, and mRNA were assessed, and behavioral performance evaluated.
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