Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
Extraordinary methane levels in a small bar‐built tropical estuary
Abstract Small estuaries link uplands and nearshore marine environments but are understudied in many regions. We quantified spatial and temporal variability in CH4, CO2, nutrients, and organic matter in a small, deep, bar‐built tropical estuary in Fajardo, Puerto Rico.
William H. McDowell +3 more
wiley +1 more source
Inflammation Associated With Obesity, Aging, and Amyloid Burden in Adults With Down Syndrome
ABSTRACT Objective Adults with Down syndrome (DS) often show elevated systemic inflammation, but the association with obesity, aging, and Alzheimer's disease (AD) pathology is not well understood. Methods Data were drawn from 188 nondemented adults with DS participating in the Alzheimer Biomarkers Consortium‐DS (ABC‐DS). Participants completed clinical
Victoria L. Fleming‐Batayneh +80 more
wiley +1 more source
Air Pollutants in Puerto Rico: Key Pollutants and Carcinogenic Properties. [PDF]
Kaya D +6 more
europepmc +1 more source
Tracing holotype trajectories: Mapping the movement of the most valuable herbarium specimens
Global efforts to protect biodiversity depend on fair access to key plant specimens. This study examines the distribution of 119,361 holotypes—unique herbarium specimens used to formally describe new plant species. By linking collection and storage data, we found that holotypes are increasingly held closer to their places of origin, particularly in ...
Dominik Tomaszewski +2 more
wiley +1 more source
Potential Exposure to Environmental Toxic Emissions and Increased Cancer Risk in Puerto Rico. [PDF]
Cardona-Cordero NR +9 more
europepmc +1 more source
Environmental Scan of the United States Regulatory Practices of Physical Therapy Dry Needling
ABSTRACT Purpose This study aimed to investigate the dry needling (DN) regulation of physical therapists across United States (US) regulatory jurisdictions and assess alignment of these regulations with identified DN regulatory recommendations. Methods Using Choo's modes of environmental scanning framework, we conducted a comprehensive review of DN ...
Nadine Crocker, Eric Parent
wiley +1 more source
Identifying key uncertainties in energy transitions with a Puerto Rico case study. [PDF]
Khayambashi K +3 more
europepmc +1 more source
An Information Geometry‐Based Method to Study Atmospheric and Seismic Phenomena With VLF Signals
Abstract We propose to employ the framework of information geometry to detect anomalies in Very Low Frequency (VLF) and Low Frequency (LF) signal propagation, measured globally across amplitude and phase channels. Using a sliding‐window approach, the probability distributions of signal data are compared over adjacent intervals, defining a statistical ...
Abhiram Anand Thiruthummal +4 more
wiley +1 more source

