Catherine S. Choong
A5078763633- Childhood Cancer Survivors' Quality of Life
- Healthcare Policy and Management
- Primary Care and Health Outcomes
- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Genetic Syndromes and Imprinting
- Health Systems, Economic Evaluations, Quality of Life
- Birth, Development, and Health
- Urological Disorders and Treatments
- Congenital Diaphragmatic Hernia Studies
- Pituitary Gland Disorders and Treatments
- Hormonal and reproductive studies
- Pancreatic function and diabetes
- Genetic Neurodegenerative Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Prostate Cancer Treatment and Research
- Adolescent and Pediatric Healthcare
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Neuroendocrine Tumor Research Advances
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Acute Lymphoblastic Leukemia research
- Child and Adolescent Health
- Cancer survivorship and care
- Cancer-related cognitive impairment studies
Princess Margaret Hospital for Children
2015-2025
The University of Western Australia
2015-2025
Perth Children's Hospital
2018-2025
The Kids Research Institute Australia
2019-2022
Charles Darwin University
2021
Menzies School of Health Research
2021
Liverpool Hospital
2019
Diabetes Australia
2016-2018
Cancer Genetics (United States)
2015
McGill University
2015
Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic is atypical. Clinical management DSD often difficult and currently only 13% patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted gene panel allows us to sequence all 64 known diagnostic genes candidate simultaneously. We analyzed DNA from the largest reported international cohort with (278 46,XY 48 46,XX DSD)....
Increased secretion of growth hormone leads to gigantism in children and acromegaly adults; the genetic causes are poorly understood.We performed clinical studies samples obtained from 43 patients with then sequenced an implicated gene 248 acromegaly.We observed microduplication on chromosome Xq26.3 13 gigantism; these samples, 4 were members two unrelated kindreds, 9 sporadic cases. All had disease onset during early childhood. Of who did not carry microduplication, none presented before...
Despite being a classical growth disorder, pituitary gigantism has not been studied previously in standardized way. We performed retrospective, multicenter, international study to characterize large series of patients. included 208 patients (163 males; 78.4%) with hormone excess and current/previous abnormal velocity for age or final height >2 s.d. above country normal means. The median onset rapid was 13 years occurred significantly earlier females than adenomas were diagnosed males...
The molecular basis for partial androgen insensitivity associated with adult onset spinal/bulbar muscular atrophy was investigated by transient transfection of human receptor (AR) expression vectors containing increasing CAG repeat lengths in the first exon. An inverse relationship observed between length and AR mRNA protein levels. Trinucleotide 43 65 decreased levels but did not alter equilibrium binding affinity [3H]R1881 or inherent transcriptional activity AR, expressed as...
DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report seven additional families manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) primitive neuroectodermal...
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which highly upregulated in tumors. We conducted this study to explore clinical, radiological, and hormonal phenotype responses therapy patients with X-LAG syndrome. The included 18 (13 sporadic) microduplication Xq26.3. All sporadic cases had unique duplications inheritance pattern two families was dominant, all Xq26.3 duplication carriers...
The Growth Hormone (GH) Research Society (GRS) convened a workshop to address important issues regarding trial design, efficacy, and safety of long-acting growth hormone preparations (LAGH).A closed meeting 55 international scientists with expertise in GH, including pediatric adult endocrinologists, basic scientists, regulatory participants from the pharmaceutical industry.Current literature was reviewed for gaps knowledge. Expert opinion used suggest studies required potential efficacy...
Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be causative gene, and c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested play a role pathogenesis of acromegaly. We studied 153 patients (58 females 95 males) with gigantism. mutation-negative cases were screened for duplication through copy number variation...
Pubertal growth patterns correlate with future health outcomes. However, the genetic mechanisms mediating trajectories remain largely unknown. Here, we modeled longitudinal height Super-Imposition by Translation And Rotation (SITAR) curve analysis on ~ 56,000 trans-ancestry samples repeated measurements from age 5 years to adulthood. We performed six phenotypes representing magnitude, timing, and intensity of pubertal spurt. To investigate lifelong impact variants associated trajectories,...
The molecular basis for partial androgen insensitivity associated with adult onset spinal/bulbar muscular atrophy was investigated by transient transfection of human receptor (AR) expression vectors containing increasing CAG repeat lengths in the first exon. An inverse relationship observed between length and AR mRNA protein levels. Trinucleotide 43 65 decreased levels but did not alter equilibrium binding affinity [3H]R1881 or inherent transcriptional activity AR, expressed as...
R K McCulloch, C S Choong, and D M Hurley Department of Medicine, University Western Australia, Royal Perth Hospital.
Abstract Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting to clinical characteristics AIPmut AIPneg patients. Design 12-year prospective, observational study. Participants & Setting We studied probands...
BACKGROUND Although up to 30% of men who undergo radical prostatectomy for clinically organ-confined prostate cancer will relapse with disseminated disease, currently it is not possible predict these patients. METHODS Androgen receptor (AR) immunoreactivity in stromal and epithelial compartments tumor foci was evaluated by video image analysis 53 specimens. Kaplan–Meier Cox Regression analyses were used determine whether AR immunostaining related rate risk relapse, respectively. RESULTS...
Objective: We examined the impact of long-term mental health outcomes on healthcare services utilisation among childhood cancer survivors in Western Australia using linked hospitalisations and community-based records from 1987 to 2019. Method: The study cohort included 2977 diagnosed with at age < 18 years 1982 2014 a matched non-cancer control group 24,994 individuals. Adjusted hazard ratios recurrent events were estimated Andersen–Gill model. cumulative burden over time was assessed...
The DICER1 gene encodes an endoribonuclease involved in the production of mature microRNAs which regulates expression through several mechanisms. Recent studies have demonstrated somatic mutations approximately 60% ovarian Sertoli-Leydig cell tumors. Furthermore, patients with germline are predisposed to developing a range rare neoplasms including sex cord-stromal tumors most been classified as tumor. However, histologic features these not reported detail. We describe morphologic and...
Adolescent and young adult (AYA) survivors of pediatric oncology related cerebral insult are vulnerable to numerous treatment-induced deficits that significantly enhance cardiovascular disease risk. Regular exercise improves endothelial function, fitness, body composition musculoskeletal function which may reduce predisposition for disease. Here we assessed the feasibility effectiveness a 24-week intervention on cardiovascular, physical metabolic outcomes in this population. Thirteen (6...
Abstract Purpose To characterise resting energy expenditure (REE) and other metabolic features in patients with septo-optic dysplasia (SOD) evaluate relationships elevated body mass index (BMI). Methods Children SOD above 5 years of age attending Perth Children’s Hospital participated. A CosMED Q-NRG indirect calorimeter was used to calculate mean measure REE (mREE). This compared predictive (pREE) based on the Schofield equation determine mREE/pREE quotient. BMI z-score &gt;1 considered...
Childhood cancer survivors (CCS) experience an elevated burden of health complications, underscoring the importance understanding patterns multimorbidity to guide management with complex medical needs. We examined hospitalisations in 5-year CCS (n = 2938) and age- sex-matched non-cancer comparisons 24,792) using statewide records inpatient admissions Western Australia from 1987 2019. Multimorbidity rates were higher for (10.6, 95%CI 10.2–10.9) than (3.2, 3.2–3.3). exhibited a significantly...