Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric surgery"
DOI: 10.1016/j.jpedsurg.2018.02.041
Abstract: PURPOSE The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital. METHODS A retrospective review of infants evaluated at Texas Children's… read more here.
Keywords: surgical outcomes; outcomes patients; patients beckwith; beckwith wiedemann ... See more keywords
Reply to Brioude et al
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-017-0094-y
Abstract: We thank Brioude et al. for their interest in our report on children with Beckwith-Wiedemann Syndrome (BWS) who presented with Wilms tumors (WT) or preneoplastic lesions and an initial molecular diagnosis of loss of methylation… read more here.
Keywords: risk; ic2; number; ic2 lom ... See more keywords
Force sensorless admittance control of body weight support system
Sign Up to like & getrecommendations! Published in 2021 at "Advanced Robotics"
DOI: 10.1080/01691864.2021.1875044
Abstract: The effectiveness of rehabilitation treatment with the Body Weight Support (BWS) system has been demonstrated in patients with stroke and spinal cord injury. Many recent studies used expensive force sensors to realize the force control,… read more here.
Keywords: system; control; force; bws ... See more keywords
A Performance Evaluation of Overground Gait Training With a Mobile Body Weight Support System Using Wearable Sensors
Sign Up to like & getrecommendations! Published in 2023 at "IEEE Sensors Journal"
DOI: 10.1109/jsen.2023.3269031
Abstract: Overground gait training under body weight support (BWS) for patients who suffer from neurological injuries has been proven practical in recovering from walking ability. Conventionally, skilled therapists or additional robots are required to assist the… read more here.
Keywords: weight support; body weight; support; bws ... See more keywords
Effect of bodyweight support and incline running on electromyographic activity of triceps surae
Sign Up to like & getrecommendations! Published in 2023 at "Physiology"
DOI: 10.1152/physiol.2023.38.s1.5731533
Abstract: During rehabilitation, body weight support (BWS) system is often used. It can be useful for optimizing time to return to practice by unloading joints and muscles. The present study aimed to explore the effects of… read more here.
Keywords: electromyographic activity; incline running; physiology; activity ... See more keywords
Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Epigenetics"
DOI: 10.1186/s13148-019-0649-6
Abstract: Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of… read more here.
Keywords: methylation; molecular confirmation; beckwith wiedemann; wiedemann syndrome ... See more keywords
Body-Worn Sensors for Parkinson’s disease: A qualitative approach with patients and healthcare professionals
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0265438
Abstract: Body-Worn Sensors (BWS) provide reliable objective and continuous assessment of Parkinson’s disease (PD) motor symptoms, but their implementation in clinical routine has not yet become widespread. Users’ perceptions of BWS have not been explored. This… read more here.
Keywords: disease; parkinson disease; body worn; worn sensors ... See more keywords
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14153807
Abstract: Simple Summary Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. BWS is considered a spectrum disorder (BWSp) with an increased neoplasm incidence. CDKN1C variants have been… read more here.
Keywords: incidence; cdkn1c variants; wiedemann syndrome; beckwith wiedemann ... See more keywords
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12050706
Abstract: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition. CDKN1C is a maternally expressed gene of the 11p15.5 chromosomal region and is regulated by… read more here.
Keywords: loss function; beckwith wiedemann; wiedemann syndrome; bws ... See more keywords