Reality bites: allocating gene therapy for hemoglobinopathies
Blood Adv. 2025 Sep 9;9(17):4500-4501. doi: 10.1182/bloodadvances.2025016943. NO ABSTRACT PMID:40924431 | DOI:10.1182/bloodadvances.2025016943
paediatrics
S-nitrosylation of pVHL regulates β2 adrenergic receptor function
Proc Natl Acad Sci U S A. 2025 Sep 16;122(37):e2515326122. doi: 10.1073/pnas.2515326122. Epub 2025 Sep 9. ABSTRACT The β2-adrenergic receptor (β2AR), a prototype G protein-coupled …
Long COVID and Food Insecurity in US Adults, 2022-2023
JAMA Netw Open. 2025 Sep 2;8(9):e2530730. doi: 10.1001/jamanetworkopen.2025.30730. ABSTRACT IMPORTANCE: Long COVID (ie, post-COVID-19 condition) is a substantial public health concern, and its association with …
Clinical Decision Support for Pediatric Diarrhea-Expectations and Evidence in Diagnostic Stewardship
JAMA Netw Open. 2025 Sep 2;8(9):e2531006. doi: 10.1001/jamanetworkopen.2025.31006. NO ABSTRACT PMID:40924427 | DOI:10.1001/jamanetworkopen.2025.31006
Parent and Clinician Perspectives on Diagnostic Testing for Children With Diarrhea: A Qualitative Study
JAMA Netw Open. 2025 Sep 2;8(9):e2531000. doi: 10.1001/jamanetworkopen.2025.31000. ABSTRACT IMPORTANCE: Advances in diagnostics have enabled the detection of more gastrointestinal pathogens, but misuse of diagnostics …
Histologic Chorioamnionitis and Neurodevelopment in Preterm Infants
JAMA Netw Open. 2025 Sep 2;8(9):e2531158. doi: 10.1001/jamanetworkopen.2025.31158. ABSTRACT IMPORTANCE: Exposure to inflammation from chorioamnionitis places the fetus at higher risk of premature birth and …
Loss of METTL3 m6A methyltransferase results in short-term progression and poor treatment outcome of bladder cancer patients
Int J Cancer. 2025 Sep 9. doi: 10.1002/ijc.70147. Online ahead of print. ABSTRACT Bladder cancer (BlCa) exhibits a highly heterogeneous molecular landscape and treatment response, …
Ataxia and cerebellar hypoexcitability in a mouse model of SCN1B-linked Dravet syndrome
JCI Insight. 2025 Sep 9;10(17):e187606. doi: 10.1172/jci.insight.187606. eCollection 2025 Sep 9. ABSTRACT Patients with Dravet syndrome (DS) present with severe, spontaneous seizures and ataxia. While …
Thyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis
JCI Insight. 2025 Sep 9;10(17):e191837. doi: 10.1172/jci.insight.191837. eCollection 2025 Sep 9. ABSTRACT Intracellular trafficking of secretory and membrane proteins from the endoplasmic reticulum (ER) to …
Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic
Am J Med Genet A. 2025 Sep 9:e64251. doi: 10.1002/ajmg.a.64251. Online ahead of print. ABSTRACT To study the use of a dementia screening tool in …