Results 191 to 200 of about 1,082 (258)

New focus on cardiac voltage-gated sodium channel β1 and β1B: Novel targets for treating and understanding arrhythmias? [PDF]

Heart Rhythm
Williams ZJ, Payne LB, Wu X, Gourdie RG.
europepmc   +1 more source

Looking back on childhood experiences of homelessness: Stories of ongoing residential instability and resilience

American Journal of Community Psychology, EarlyView.
Abstract Families' experience of homelessness is typically examined from the perspective of parents during or shortly after a shelter stay. Parents complain about rules, surveillance, crowding, and challenges to parenting in both homeless shelters and in doubling up with other households (sharing the others' homes), and relief when they attain their ...
Marybeth Shinn, Emma J. Sacks, Kayla Fike   +2 more
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Respiratory Monitoring in Motion: An Overview of Wearable Methods and Algorithmic Approaches for Reliable Assessment. [PDF]

Biosensors (Basel)
Pecik M, Vavrinsky E, Vitazkova D, Kosnacova H, Nevrela J, Foltan E.   +5 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Far From Help: Exploring the Influence of Regional and Remote Residence on Coastal Visitation and Participation, Risk Perception and Safety Knowledge and Practices. [PDF]

Aust J Rural Health
Pratt EG, Peden AE, Lawes JC.
europepmc   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Improving coastal safety for international visitors to Australia. [PDF]

Public Health Pract (Oxf)
Koon WA, Brander RW, Lawes JC, Peden AE.
europepmc   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

Neuronal activity drives PCDH9 cleavage and nuclear translocation to coordinate structural and functional remodeling. [PDF]

Front Cell Neurosci
Miozzo F, Zambrano Avendano A, Caso MG, Valentino B, Hirano S, Murru L, Moretto E, Passafaro M.   +7 more
europepmc   +1 more source