The critical importance of membrane-bound transporters in pharmacotherapy is widely recognized, but little is known about drug transporter activity in children. In this white paper, the Pediatric Transporter Working Group presents a systematic review of the ontogeny of clinically relevant membrane transporters (e.g., SLC, ABC superfamilies) in intestine, liver, and kidney. Different developmental patterns for individual transporters emerge, but much remains unknown. Recommendations to increase our understanding of membrane transporters in pediatric pharmacotherapy are presented.
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http://dx.doi.org/10.1002/cpt.176 | DOI Listing |
PLoS Genet
January 2025
Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st St. SW, Rochester, Minnesota 55905, United States of America.
Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis of these syndromes remains elusive, many are caused by genetically inherited mutations. Thus, it is valuable to identify additional genes that can impact motor neuron survival and function.
View Article and Find Full Text PDFAsian J Transfus Sci
September 2022
Department of Paediatric Neurosurgery and Craniofacial Surgery, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham University, Kochi, Kerala, India.
We report the case of a 5-year-old girl with a rare P-null phenotype who presented for a neurosurgical procedure at our center. The case is unique as this patient was one of the two P-null phenotype cases reported in India and we report how we could successfully arrange a rare blood unit for her. As it was challenging to find a donor for her, autologous blood was collected.
View Article and Find Full Text PDFMil Med
January 2025
Neonatal Intensive Care Unit (NICU), Brooke Army Medical Center, San Antonio, TX 78234, USA.
Military medical transport is unique due to its frequent long-distance travel with limited supplies and capabilities. Military neonatal transport is perhaps even more niche, and descriptions in the literature are rare. A military neonatal team transported a 1-month-old former 26-week infant from a forward-deployed non-combat setting.
View Article and Find Full Text PDFHum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Immunology, School of Medicine, UConn Health, Farmington, CT 06030.
Monocytes are critical in controlling tissue infections and inflammation. Monocyte dysfunction contributes to the inflammatory pathogenesis of cystic fibrosis (CF) caused by CF transmembrane conductance regulator (CFTR) mutations, making CF a clinically relevant disease model for studying the contribution of monocytes to inflammation. Although CF monocytes exhibited adhesion defects, the precise mechanism is unclear.
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