A5058176297- Neurofibromatosis and Schwannoma Cases
- Genetics and Physical Performance
- Soft tissue tumor case studies
- Sports Performance and Training
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Soft tissue tumors and treatment
- Muscle metabolism and nutrition
- Genomic variations and chromosomal abnormalities
- Cardiomyopathy and Myosin Studies
- Cardiac Imaging and Diagnostics
- Cardiovascular Effects of Exercise
- CRISPR and Genetic Engineering
- Meningioma and schwannoma management
- Vascular Malformations Diagnosis and Treatment
- Dupuytren's Contracture and Treatments
- RNA Research and Splicing
- Prion Diseases and Protein Misfolding
- Intestinal and Peritoneal Adhesions
- Ophthalmology and Visual Impairment Studies
- Health Systems, Economic Evaluations, Quality of Life
- Vascular Malformations and Hemangiomas
- Cystic Fibrosis Research Advances
- Hallucinations in medical conditions
- Ocular Disorders and Treatments
Royal North Shore Hospital
2011-2025
The University of Sydney
2010-2025
Northern Sydney Local Health District
2021-2024
Massachusetts General Hospital
2021
Masonic Cancer Center
2021
University of Minnesota
2021
North Shore Hospital
2021
Children's Hospital at Westmead
2007-2017
Tirat Carmel Mental Health Center
2013
Center for Human Genetics
2007
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
The complications of neurofibromatosis type 1 (NF1) are widespread, unpredictable and variable each person's experience this disorder is unique. However, few studies have addressed the impact NF1 from an individual's perspective. This qualitative study aims to identify ways in which impacts upon affected Australian adults. Sixty adults with NF1, a range disease severity visibility participated semi-structured interview about impacted their life health. Data were analyzed using grounded...
Identifying and targeting established modifiable risk factors has been a successful strategy for reducing the burden of coronary artery disease (CAD) at population-level. However, up to 1-in-4 patients who present with ST elevation myocardial infarction do so in absence such factors. Polygenic scores (PRS) have demonstrated an ability improve prediction models independent traditional self-reported family history, but pathway implementation yet be clearly identified. The aim this study is...
Lissencephaly is a neuronal migration disorder leading to absent or reduced gyration and broadened but poorly organized cortex. The most common form of lissencephaly isolated, referred as classic type 1 lissencephaly. Type mostly associated with heterozygous deletion the entire LIS1 gene, whereas intragenic mutations hemizygous DCX in males are less common.Eighteen unrelated patients were clinically genetically assessed. In addition, subcortical band heterotopia (n = 1) cerebellar hypoplasia...
Abstract The skin manifestations of neurofibromatosis 1 significantly reduce health‐related quality‐of‐life. However, data on the utility existing surveys in capturing treatment outcomes are lacking. This quantitative study examined relationship between clinician‐rated severity and visibility patient‐rated itch quality‐of‐life (QoL) to (1) establish baseline levels skin‐ condition‐specific‐related QoL, itch, depression anxiety; (2) identify patient concerns inform development evaluation...
Abstract Background Neurofibromatosis 1 (NF1) is a common cancer predisposition syndrome. Affected individuals require lifelong surveillance and often suffer progressive disfigurement due to cutaneous neurofibromas. The aim of this research was characterize health concerns quality life (QOL) in population cohort. Methods An online survey completed by 68 adults 32 parents children with NF1, 60 controls. included the Skindex‐29 QOL scale, 5D‐itch additional questions. Results Frequency itch...
In order to explore the use of Skindex scoring in patients with neurofibromatosis type 1 (NF1) across multiple clinical sites and inform design additional quality life measures, we analyzed correlations between Skindex, site, measures for 79 NF1 from specialized clinics Sydney, Australia (Royal North Shore Hospital [RNS]) Minneapolis, Minnesota (University [UMN]).The relationship factors scores were explored by clinic site overall.A total 40 participants recruited RNS 39 UMN. Female sex,...
Genomic testing for a genetic diagnosis is becoming standard of care many children, especially those with syndromal intellectual disability. While previously this type specialised was performed mainly by clinical genetics teams, it increasingly being 'mainstreamed' into paediatric care. With the introduction new Medicare rebate genomic in May 2020, now available paediatricians to order, consultation genetics. Children must be aged less than 10 years facial dysmorphism and multiple congenital...
A bstract Purpose: To characterize the ophthalmic features and causes of visual loss in a cohort Melanesians living New Caledonia with nanophthalmos. Methods: In this observational study, axial length, acuity (VA), cycloplegic autorefraction were assessed dilated fundus examination was performed. Visual impairment defined as VA < 6/12 better eye, hypermetropia >+1.0 dioptre (D), astigmatism ≥1.0 D anisometropia difference between both eyes. Unilateral amblyopia at least two‐line eyes...
The neurofibromatoses, which include neurofibromatosis type I (NF1), II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. RASopathies caused germline mutations genes that encode components RAS/mitogen‐activated protein kinase (MAPK) pathway. NF1, Noonan syndrome, syndrome with multiple lentigines, Costello cardio‐facio‐cutaneous Legius capillary malformation arterio‐venous SYNGAP1 autism. Due to their common underlying pathogenetic...
Lifelong health monitoring is recommended in neurofibromatosis type 1 ( NF1 ) because of the progressive and unpredictable range disabling potentially life‐threatening symptoms that arise. In Australia, strategies for surveillance are less well developed adults than they children, resulting inequalities between pediatric adult care. The aims this study were to determine uptake capacity with self‐manage their health. Australian n = 94, 18–40 years) participated a semi‐structured interview....
NSW Health is implementing genomics as a mainstream component of clinical care. The strategic, holistic approach considering infrastructure, data governance and management, workforce, education, service planning delivery. This work generating insights about how to realise the promise in healthcare, highlighting need for strong foundations, real-world application, accessibility focus on people using genomic information