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Poikiloderma with neutropenia: a case report.
J Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
'Which treatment do you believe you received?' A randomised blinding feasibility trial of spinal manual therapy.
Chiropr Man Therap
January 2025
Musculoskeletal Epidemiology Research Group, University of Zurich and Balgrist University Hospital, Zurich, Switzerland.
Background: Blinding is essential for mitigating biases in trials of low back pain (LBP). Our main objectives were to assess the feasibility of blinding: (1) participants randomly allocated to active or placebo spinal manual therapy (SMT), and (2) outcome assessors. We also explored blinding by levels of SMT lifetime experience and recent LBP, and factors contributing to beliefs about the assigned intervention.
View Article and Find Full Text PDFAnkyloglossia and breastfeeding self-efficacy in newborns: a birth cohort study.
BMC Oral Health
January 2025
Department of Pediatric Dentistry, School of Dentistry, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Background: The impact of ankyloglossia (tongue-tie) on breastfeeding outcomes may be overestimated and surgical treatment in newborns remains a controversial topic. The aim of the present study was to assess and quantify the impact of ankyloglossia in newborns on breastfeeding self-efficacy at 14 days of life.
Methods: A birth cohort study was conducted involving mothers and newborns soon after childbirth at a public hospital in the city of Canoas, southern Brazil.
In vivo base editing extends lifespan of a humanized mouse model of prion disease.
Nat Med
January 2025
Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Prion disease is a fatal neurodegenerative disease caused by the misfolding of prion protein (PrP) encoded by the PRNP gene. While there is currently no cure for the disease, depleting PrP in the brain is an established strategy to prevent or stall templated misfolding of PrP. Here we developed in vivo cytosine and adenine base strategies delivered by adeno-associated viruses to permanently modify the PRNP locus to achieve PrP knockdown in the mouse brain.
View Article and Find Full Text PDFUnderstanding tinnitus symptom dynamics and clinical improvement through intensive longitudinal data.
NPJ Digit Med
January 2025
Department of Psychiatry and Psychotherapy, University of Regensburg, Regensburg, Germany.
Intensive longitudinal sampling enhances subjective data collection by capturing real-time, dynamic inputs in natural settings, complementing traditional methods. This study evaluates the feasibility of using daily self-reported app data to assess clinical improvement among tinnitus patients undergoing treatment. App data from a multi-center randomized clinical trial were analysed using time-series feature extraction and nested cross-validated ordinal regression with elastic net regulation to predict clinical improvement based on the Clinical Global Impression-Improvement scale (CGI-I).
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