A5101498892- Neurogenetic and Muscular Disorders Research
- Spaceflight effects on biology
- Menopause: Health Impacts and Treatments
- Eating Disorders and Behaviors
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Family and Disability Support Research
- Cystic Fibrosis Research Advances
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- Nutrition, Genetics, and Disease
- Cardiac Health and Mental Health
- Fetal and Pediatric Neurological Disorders
- Autism Spectrum Disorder Research
- Space Exploration and Technology
- Electroconvulsive Therapy Studies
- Dementia and Cognitive Impairment Research
- Language, Metaphor, and Cognition
- Stroke Rehabilitation and Recovery
- Parkinson's Disease Mechanisms and Treatments
- Schizophrenia research and treatment
- Digital Humanities and Scholarship
- Bipolar Disorder and Treatment
- Augmented Reality Applications
Victorian Clinical Genetics Services
2007-2024
Murdoch Children's Research Institute
2007-2024
Northeastern University
2020
Eastern Virginia Medical School
2019
Royal Children's Hospital
2018
King's College London
2008-2015
Birmingham General Hospital
1995
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier is offered through general practice, obstetrics, fertility, genetics settings before or in early pregnancy. Carriers are counseling with prenatal/preimplantation diagnosis available to those at increased risk.ResultsScreening 12,000 individuals revealed 610 carriers (5.08%; 1 20): 342 CF, 35 FXS, 241 SMA (8 2...
The Royal Australian and New Zealand College of Obstetricians Gynaecologists General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile X syndrome (FXS), should be offered to all women planning pregnancy or early regardless family history ethnicity. aim this study was investigate patterns participation by healthcare providers (HCP)...
Catatonia is a distinct psychomotor syndrome that involves constellation of up to 40 different symptoms. Although conventionally responsive benzodiazepines, the catatonic much more resistant benzodiazepine treatment when feature schizophrenia.We present patient with schizophrenia symptoms, marginally lorazepam challenge, lorazepam, and olanzapine monotherapy, but ultimately began combination these 2 medications.Our patient's score on Bush-Francis Rating Scale significantly decreased after...
Click to increase image sizeClick decrease size ACKNOWLEDGMENTS The authors thank Rebekah Bruce and Thomas Molina of the Microbiology Laboratory at NASA Johnson Space Center for their assistance in this study. This study was supported by ISS funding NAS9-02078. Column Editor Michael Larrañaga
Crowdsourcing games involving image labeling tasks are commonly digital, played online, and have rules set by designers. In this work we explore the potential of tabletop games, incorporating physical elements, in-person community-based gameplay, support for customizable rules. We developed an augmented reality game toolkit called Tile-o-Scope AR conducted two studies. The first study demonstrates how can facilitate discussions through collaborative labeling, toolkit's adaptability to other...
We describe a case of spinal muscular atrophy diagnosed in an infant despite previous parental carrier testing suggesting low risk the disease. This report explains how this situation arose and illustrates that clinicians need to perform diagnostic children where clinical suspicion for is high, regardless result testing, because false negative results.