34 results on '"Chong, W."'
Search Results
2. Telehealth implementation in a skilled nursing facility: case report for physical therapist practice in Washington
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Lee, Alan Chong W. and Billings, Michael
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Therapeutics, Physiological -- Technology application ,Telemedicine -- Methods ,Physical therapy -- Technology application ,Health facilities -- Technology application ,Technology application ,Health - Abstract
Background and Purpose. Telehealth is defined as the delivery of health-related services and information via telecommunication technologies. The purposes of this case report are: (1) to describe the development, implementation, and evaluation of a telehealth approach for meeting physical therapist supervision requirements in a skilled nursing facility (SNF) in Washington and (2) to explore clinical and human factors of physical therapist practice in an SNF delivered via telehealth. Case Description. In 2009, Infinity Rehab conducted a pilot program to determine whether telehealth could be used to meet physical therapist supervision requirements in an SNF. In 2011, language allowing telehealth physical therapy was approved by the Washington Board of Physical Therapy (Board). In 2014-2015, telehealth outcomes were evaluated in a 51-person sample at an Infinity Rehab SNF. Cost savings of telehealth implementation from 2011 to 2015 were estimated. Outcomes. The Board deemed the telehealth pilot program a success and subsequently established telehealth practice language for physical therapy. Both human factors and clinical outcomes were required to implement a successful telehealth practice. Clinical outcomes and user satisfaction in telehealth and nontelehealth groups were equivalent. Cost savings were identified. Discussion. Human factors, such as the need for provider education in appropriate bedside manner with a telehealth session, were identified. Since 2011, more than 1,000 telehealth physical therapy sessions were conducted at Infinity Rehab SNFs in Washington State. In the future, alternative payment models focused on valued-based clinical outcomes may facilitate wider telehealth adoption in physical therapy. Future research on efficacy and cost-effectiveness is needed to promote broader adoption of telehealth physical therapy in SNFs. This experience demonstrates that telehealth implementation in an SNF for the purpose of physical therapy re-evaluation is a feasible alternative to in-person encounters., Telehealth is the use of secure electronic communications to provide and deliver a host of health-related information and health care services, including but not limited to physical therapy-related information and [...]
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- 2016
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3. Telehealth as a means of health care delivery for physical therapist practice
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Lee, Alan Chong W. and Harada, Nancy
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Rehabilitation -- Management -- Technology application ,Telemedicine -- Laws, regulations and rules -- Management ,Physical therapists -- Technology application -- Licensing, certification and accreditation ,Government regulation ,Company business management ,Technology application ,Health - Abstract
Telehealth is defined as the delivery of health-related services and information via telecommunications technologies. According to the American Telemedicine Association (ATA), 'telehealth' is a broad term used to describe the [...]
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- 2012
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4. Saline suppression to distinguish the primary aldosteronism subtype: a diagnostic study.
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Hashimura H, Hu J, Kobayashi H, Gwini SM, Shen J, Chee NYN, Doery JCG, Chong W, Fuller PJ, Abe M, Li Q, and Yang J
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- Humans, Cohort Studies, Australia, Saline Solution, Retrospective Studies, Adrenal Glands blood supply, Aldosterone, Hyperaldosteronism
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Objectives: The saline suppression test (SST) serves to confirm the diagnosis of primary aldosteronism (PA), while adrenal vein sampling (AVS) is used to subtype PA as unilateral or bilateral. Criteria that can accurately identify those with bilateral PA based on SST results could reduce the need for AVS. We previously demonstrated that a combination of plasma aldosterone concentration (PAC) < 300 pmol L-1 and a reduction in aldosterone-to-renin ratio (ARR) following recumbent SST had high specificity for predicting bilateral PA in an Australian cohort of 92 patients with PA who have undergone AVS. We sought to validate our predictive criteria in larger, independent cohorts of patients with PA., Design: An international, multi-centre cohort study., Methods: Data from 55 patients at Monash Health, Victoria, Australia, 106 patients from the First Affiliated Hospital of Chongqing Medical University, China, and 105 patients from Nihon University Itabashi Hospital, Japan were analysed., Results: A combination of PAC <300 pmol L-1 and a reduction in ARR following recumbent SST predicted bilateral PA with specificities of 88.2%, 97.0%, and 100.0% in Australian, Chinese, and Japanese cohorts, respectively. This criterion could allow 22%-38% of patients with PA to bypass AVS and proceed directly to medical treatment., Conclusion: In patients undergoing the recumbent SST, a post-saline PAC <300 pmol L-1 together with a reduction in ARR can predict bilateral PA with high specificity and may allow targeted treatment to be commenced without AVS in up to a third of patients., (© The Author(s) 2023. Published by Oxford University Press on behalf of (ESE) European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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- 2023
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5. Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas.
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Przystal JM, Cianciolo Cosentino C, Yadavilli S, Zhang J, Laternser S, Bonner ER, Prasad R, Dawood AA, Lobeto N, Chin Chong W, Biery MC, Myers C, Olson JM, Panditharatna E, Kritzer B, Mourabit S, Vitanza NA, Filbin MG, de Iuliis GN, Dun MD, Koschmann C, Cain JE, Grotzer MA, Waszak SM, Mueller S, and Nazarian J
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- Animals, Cell Line, Tumor, Cell Lineage, Child, Energy Metabolism, Heterocyclic Compounds, 4 or More Rings therapeutic use, Humans, Mice, Zebrafish, Antineoplastic Agents therapeutic use, Glioma drug therapy, Glioma pathology
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Background: Pediatric diffuse midline gliomas (DMGs) are incurable childhood cancers. The imipridone ONC201 has shown early clinical efficacy in a subset of DMGs. However, the anticancer mechanisms of ONC201 and its derivative ONC206 have not been fully described in DMGs., Methods: DMG models including primary human in vitro (n = 18) and in vivo (murine and zebrafish) models, and patient (n = 20) frozen and FFPE specimens were used. Drug-target engagement was evaluated using in silico ChemPLP and in vitro thermal shift assay. Drug toxicity and neurotoxicity were assessed in zebrafish models. Seahorse XF Cell Mito Stress Test, MitoSOX and TMRM assays, and electron microscopy imaging were used to assess metabolic signatures. Cell lineage differentiation and drug-altered pathways were defined using bulk and single-cell RNA-seq., Results: ONC201 and ONC206 reduce viability of DMG cells in nM concentrations and extend survival of DMG PDX models (ONC201: 117 days, P = .01; ONC206: 113 days, P = .001). ONC206 is 10X more potent than ONC201 in vitro and combination treatment was the most efficacious at prolonging survival in vivo (125 days, P = .02). Thermal shift assay confirmed that both drugs bind to ClpP, with ONC206 exhibiting a higher binding affinity as assessed by in silico ChemPLP. ClpP activation by both drugs results in impaired tumor cell metabolism, mitochondrial damage, ROS production, activation of integrative stress response (ISR), and apoptosis in vitro and in vivo. Strikingly, imipridone treatment triggered a lineage shift from a proliferative, oligodendrocyte precursor-like state to a mature, astrocyte-like state., Conclusion: Targeting mitochondrial metabolism and ISR activation effectively impairs DMG tumorigenicity. These results supported the initiation of two pediatric clinical trials (NCT05009992, NCT04732065)., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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- 2022
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6. A rare case of gouty arthropathy in the spine complicated with acute cord compression.
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Fung B, Chong WH, Yu CHK, Yang S, Ho CH, and Angela LOC
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Gout is one of the most common inflammatory arthropathies in the developed world. However, involvement of the spine is relatively rare, and other sinister differential diagnoses will need to be considered. We describe an unusual case of gouty tophi deposition within the spine in an elderly patient presenting with signs and symptoms of acute cord compression. Important differential diagnoses that need to be excluded include bony metastases from underlying malignancy and other infective/inflammatory causes. Early recognition of imaging findings can avoid delayed or inappropriate medical treatment., (© 2022 The Authors. Published by the British Institute of Radiology.)
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- 2022
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7. Rosiglitazone Requires Hepatocyte PPARγ Expression to Promote Steatosis in Male Mice With Diet-Induced Obesity.
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Lee SM, Muratalla J, Diaz-Ruiz A, Remon-Ruiz P, McCann M, Liew CW, Kineman RD, and Cordoba-Chacon J
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- Animals, Diet, High-Fat, Hepatocytes metabolism, Liver drug effects, Liver metabolism, Liver pathology, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Non-alcoholic Fatty Liver Disease genetics, Non-alcoholic Fatty Liver Disease metabolism, Obesity etiology, Obesity metabolism, PPAR gamma metabolism, Hepatocytes drug effects, Non-alcoholic Fatty Liver Disease chemically induced, Obesity genetics, PPAR gamma genetics, Rosiglitazone pharmacology
- Abstract
Thiazolidinediones (TZD) are peroxisome proliferator-activated receptor γ (PPARγ) agonists that may reduce hepatic steatosis through their effects in adipose tissue and therefore have been assessed as potential therapies to treat nonalcoholic fatty liver disease (NAFLD) in humans. However, some studies suggest that expression and activation of hepatocyte PPARγ promotes steatosis and that would limit the benefits of TZD as a NAFLD therapy. To further explore this possibility, we examined the impact of short-term rosiglitazone maleate treatment after the development of moderate or severe diet-induced obesity, in both control and adult-onset hepatocyte-specific PPARγ knockout (PpargΔHep) mice. Independent of the level of obesity and hepatic PPARγ expression, the TZD treatment enhanced insulin sensitivity, associated with an increase in white adipose tissue (WAT) fat accumulation, consistent with clinical observations. However, TZD treatment increased hepatic triglyceride content only in control mice with severe obesity. Under these conditions, PpargΔHep reduced diet-induced steatosis and prevented the steatogenic effects of short-term TZD treatment. In these mice, subcutaneous WAT was enlarged and associated with increased levels of adiponectin, while hepatic levels of phosphorylated adenosine 5'-monophosphate-activated protein kinase were also increased. In addition, in mice with severe obesity, the expression of hepatic Cd36, Cidea, Cidec, Fabp4, Fasn, and Scd-1 was increased by TZD in a PPARγ-dependent manner. Taken together, these results demonstrate that hepatocyte PPARγ expression offsets the antisteatogenic actions of TZD in mice with severe obesity. Therefore, in obese and insulin resistant humans, TZD-mediated activation of hepatocyte PPARγ may limit the therapeutic potential of TZD to treat NAFLD., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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- 2021
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8. Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
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Mohammad SS, Angiti RR, Biggin A, Morales-Briceño H, Goetti R, Perez-Dueñas B, Gregory A, Hogarth P, Ng J, Papandreou A, Bhattacharya K, Rahman S, Prelog K, Webster RI, Wassmer E, Hayflick S, Livingston J, Kurian M, Chong WK, and Dale RC
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Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1-T
2 -weighted hyperintensities in the putamen; Cluster 2-T2 -weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3-T2 -weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4-T1 -weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3 ), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T1 -weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10 . Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice., (© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.)- Published
- 2020
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9. Lost and found: missing denture in an amnesic elderly man.
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Chong W and Tuang GJ
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- Aged, Alzheimer Disease psychology, Endoscopy methods, Humans, Male, Treatment Outcome, Aphasia diagnosis, Dentures, Esophageal Sphincter, Upper diagnostic imaging, Foreign Bodies diagnostic imaging, Foreign Bodies physiopathology, Foreign Bodies therapy
- Abstract
Competing Interests: Competing interests: None declared.
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- 2020
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10. Melanoma in congenital melanocytic naevi.
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Kinsler VA, O'Hare P, Bulstrode N, Calonje JE, Chong WK, Hargrave D, Jacques T, Lomas D, Sebire NJ, and Slater O
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- Child, Child, Preschool, Female, GTP Phosphohydrolases genetics, Humans, Infant, Male, Melanoma pathology, Melanoma therapy, Membrane Proteins genetics, Mitogen-Activated Protein Kinase Kinases antagonists & inhibitors, Mosaicism, Mutation genetics, Risk Factors, Skin Neoplasms pathology, Skin Neoplasms therapy, Brain Neoplasms etiology, Melanoma etiology, Nevus, Pigmented congenital, Skin Neoplasms etiology
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Congenital melanocytic naevi (CMN) are a known risk factor for melanoma, with the greatest risk currently thought to be in childhood. There has been controversy over the years about the incidence of melanoma, and therefore over the clinical management of CMN, due partly to the difficulties of histological diagnosis and partly to publishing bias towards cases of malignancy. Large cohort studies have demonstrated that melanoma risk in childhood is related to the severity of the congenital phenotype. New understanding of the genetics of CMN offers the possibility of improvement in diagnosis of melanoma, identification of those at highest risk, and new treatment options. We review the world literature and our centre's experience over the last 25 years, including the molecular characteristics of melanoma in these patients and new melanoma incidence and outcome data from our prospective cohort. Management strategies are proposed for presentation of suspected melanoma of the skin and the central nervous system in patients with CMN, including use of oral mitogen-activated protein kinase kinase inhibitors in NRAS-mutated tumours., (© 2017 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)
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- 2017
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11. Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
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Polubothu S, Al-Olabi L, Wilson L, Chong WK, and Kinsler VA
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- Cheek, Child, Preschool, Female, Heterozygote, Humans, Leg, Magnetic Resonance Imaging, Neck, Nevus, Pigmented genetics, Phenotype, Facial Neoplasms genetics, Mosaicism, Mutation, Missense genetics, Proteus Syndrome genetics, Proto-Oncogene Proteins c-akt genetics
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- 2016
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12. Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome.
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Waelchli R, Aylett SE, Atherton D, Thompson DJ, Chong WK, and Kinsler VA
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- Female, Humans, Infant, Magnetic Resonance Imaging, Male, Neurocutaneous Syndromes congenital, Neurocutaneous Syndromes pathology, Nevus, Pigmented congenital, Nevus, Pigmented pathology, Prognosis, Prospective Studies, Skin Neoplasms congenital, Skin Neoplasms pathology, Neurocutaneous Syndromes classification, Nevus, Pigmented classification, Skin Neoplasms classification
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Background: The spectrum of central nervous system (CNS) abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and nonmelanotic pathology. Historically, symptomatic CNS abnormalities were considered to carry a poor prognosis, although studies from large centres have suggested a much wider variation in outcome., Objectives: To establish whether routine MRI of the CNS is a clinically relevant investigation in children with multiple CMN (more than one at birth), and to subclassify radiological abnormalities., Methods: Of 376 patients seen between 1991 and 2013, 289 fulfilled our criterion for a single screening CNS MRI, which since 2008 has been more than one CMN at birth, independent of size and site of the largest naevus. Cutaneous phenotyping and radiological variables were combined in a multiple regression model of long-term outcome measures (abnormal neurodevelopment, seizures, requirement for neurosurgery)., Results: Twenty-one per cent of children with multiple CMN had an abnormal MRI. Abnormal MRI was the most significant predictor of all outcome measures. Abnormalities were subclassified into group 1 'intraparenchymal melanosis alone' (n = 28) and group 2 'all other pathology' (n = 18). Group 1 was not associated with malignancy or death during the study period, even when symptomatic with seizures or developmental delay, whereas group 2 showed a much more complex picture, requiring individual assessment., Conclusions: For screening for congenital neurological lesions a single MRI in multiple CMN is a clinically relevant strategy. Any child with a stepwise change in neurological/developmental symptoms or signs should have an MRI with contrast of the brain and spine to look for new CNS melanoma., (© 2015 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)
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- 2015
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13. A study of topical methyl-aminolaevulinate red-light photodynamic therapy in the treatment of actinic keratosis in Chinese patients: a Singaporean experience.
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Oh CC, Theng TS, and Chong WS
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- Aged, Aged, 80 and over, Asian People, Female, Humans, Keratosis, Actinic ethnology, Male, Pain etiology, Photochemotherapy adverse effects, Retrospective Studies, Singapore, Aminolevulinic Acid therapeutic use, Keratosis, Actinic drug therapy, Photochemotherapy methods, Photosensitizing Agents therapeutic use
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Background: The incidence of skin cancers has been increasing in Singapore, owing to the country's location near the equator and its ageing population. Topical photodynamic therapy (PDT) is a treatment method employing light and a topical photosensitizer to treat actinic keratosis (AK). Most published data to date on PDT have been drawn from studies of patient with Fitzpatrick skin phototypes I and II., Aim: To evaluate the effectiveness of PDT in the treatment of AK in patients with skin phototype IV in Singapore., Methods: This was a retrospective analysis of 13 East Asian patients with AK treated with PDT at the National Skin Centre, Singapore, from 2006 to 2013., Results: The overall clearance rate of AK at 3 months was 81.8% (9 of 11 patients; the other 2 were lost to follow-up). Mild to moderate pain during therapy was a common adverse event., Conclusions: PDT is a useful treatment method for AK in East Asian patients with skin phototype IV. Further larger prospective studies will be needed to evaluate its overall efficacy in East Asian patients., (© 2015 British Association of Dermatologists.)
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- 2015
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14. Neonatal hypoxia, hippocampal atrophy, and memory impairment: evidence of a causal sequence.
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Cooper JM, Gadian DG, Jentschke S, Goldman A, Munoz M, Pitts G, Banks T, Chong WK, Hoskote A, Deanfield J, Baldeweg T, de Haan M, Mishkin M, and Vargha-Khadem F
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- Adolescent, Atrophy etiology, Checklist, Child, Cohort Studies, Demography, Female, Humans, Image Processing, Computer-Assisted, Intelligence Tests, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Pretectal Region, Statistics as Topic, Verbal Learning, Hippocampus pathology, Memory Disorders etiology, Respiratory Distress Syndrome complications, Respiratory Distress Syndrome pathology
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Neonates treated for acute respiratory failure experience episodes of hypoxia. The hippocampus, a structure essential for memory, is particularly vulnerable to such insults. Hence, some neonates undergoing treatment for acute respiratory failure might sustain bilateral hippocampal pathology early in life and memory problems later in childhood. We investigated this possibility in a cohort of 40 children who had been treated neonatally for acute respiratory failure but were free of overt neurological impairment. The cohort had mean hippocampal volumes (HVs) significantly below normal control values, memory scores significantly below the standard population means, and memory quotients significantly below those predicted by their full scale IQs. Brain white matter volume also fell below the volume of the controls, but brain gray matter volumes and scores on nonmnemonic neuropsychological tests were within the normal range. Stepwise linear regression models revealed that the cohort's HVs were predictive of degree of memory impairment, and gestational age at treatment was predictive of HVs: the younger the age, the greater the atrophy. We conclude that many neonates treated for acute respiratory failure sustain significant hippocampal atrophy as a result of the associated hypoxia and, consequently, show deficient memory later in life., (© The Author 2013. Published by Oxford University Press.)
- Published
- 2015
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15. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk.
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Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, and Kinsler VA
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- Brain Diseases etiology, Child, Developmental Disabilities etiology, Female, Forehead, Glaucoma etiology, Humans, Magnetic Resonance Imaging, Male, Phenotype, Risk Factors, Seizures etiology, Trigeminal Nerve Diseases etiology, Port-Wine Stain classification, Sturge-Weber Syndrome diagnosis
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Background: Facial port-wine stains (PWSs) are usually isolated findings; however, when associated with cerebral and ocular vascular malformations they form part of the classical triad of Sturge-Weber syndrome (SWS)., Objectives: To evaluate the associations between the phenotype of facial PWS and the diagnosis of SWS in a cohort with a high rate of SWS., Methods: Records were reviewed of all 192 children with a facial PWS seen in 2011-13. Adverse outcome measures were clinical (seizures, abnormal neurodevelopment, glaucoma) and radiological [abnormal magnetic resonance imaging (MRI)], modelled by multivariate logistic regression., Results: The best predictor of adverse outcomes was a PWS involving any part of the forehead, delineated at its inferior border by a line joining the outer canthus of the eye to the top of the ear, and including the upper eyelid. This involves all three divisions of the trigeminal nerve, but corresponds well to the embryonic vascular development of the face. Bilateral distribution was not an independently significant phenotypic feature. Abnormal MRI was a better predictor of all clinical adverse outcome measures than PWS distribution; however, for practical reasons guidelines based on clinical phenotype are proposed., Conclusions: Facial PWS distribution appears to follow the embryonic vasculature of the face, rather than the trigeminal nerve. We propose that children with a PWS on any part of the 'forehead' should have an urgent ophthalmology review and a brain MRI. A prospective study has been established to test the validity of these guidelines., (© The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)
- Published
- 2014
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16. Narrow-band ultraviolet B phototherapy for mycosis fungoides in children.
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Koh MJ and Chong WS
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- Child, Child, Preschool, Female, Follow-Up Studies, Humans, Male, Neoplasm Recurrence, Local, Retrospective Studies, Mycosis Fungoides radiotherapy, Skin Neoplasms radiotherapy, Ultraviolet Therapy methods
- Abstract
Background: Mycosis fungoides (MF), the commonest form of cutaneous T-cell lymphoma, is uncommon in childhood. Phototherapy is a common treatment for MF., Aim: To retrospectively evaluate the efficacy and safety of narrow band ultraviolet B (NB-UVB) phototherapy for the treatment of MF n children., Methods: We performed a retrospective analysis of children of East Asian descent with a clinical and histological diagnosis of MF, who were treated with NB-UVB phototherapy at the National Skin Centre, Singapore over the 5-year period 2004-2008., Results: We identified nine suitable patients (eight boys, one girl; age range 5-12 years). Mean time from disease onset to diagnosis was 21 months (range 4 months to 3 years). There were two patients with stage 1A disease, six with stage 1B disease and one with stage 2A disease. Body surface area involvement ranged from 10% to 60%, and none of the patients had systemic involvement. Eight patients attained complete response after phototherapy, but only three had sustained remission after a follow-up of 1-3 years. Five patients had recurrence of lesions after an mean of 13.8 months (range 4-36). Treatment was well tolerated., Conclusion: Phototherapy using NB-UVB in the treatment of MF is efficacious and safe. We recommend it as first-line treatment in the management of early-stage MF in children., (© 2014 British Association of Dermatologists.)
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- 2014
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17. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
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Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, and Clayton PT
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- Anticonvulsants therapeutic use, Child, Child, Preschool, Electroencephalography, Epilepsy therapy, Female, HeLa Cells, Humans, Infant, Male, Mutagenesis, Site-Directed methods, Pyridoxal Phosphate therapeutic use, Pyridoxaminephosphate Oxidase metabolism, Transfection, Young Adult, Environment, Epilepsy genetics, Mutation genetics, Pyridoxaminephosphate Oxidase genetics
- Abstract
The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of the PNPO gene was undertaken for a cohort of 82 individuals who had shown a reduction in frequency and severity of seizures in response to pyridoxine or pyridoxal 5'-phosphate. Novel sequence changes were studied using a new cell-free expression system and a mass spectrometry-based assay for pyridoxamine phosphate oxidase. Three groups of patients with PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8). Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. Other mutations seem to be associated with infertility, miscarriage and prematurity. However, the situation is clearly complex with the same combination of mutations being seen in patients who responded and did not respond to pyridoxine. It is possible that pyridoxine responsiveness in PNPO deficiency is affected by prematurity and age at the time of the therapeutic trial. Other additional factors that are likely to influence treatment response and outcome include riboflavin status and how well the foetus has been supplied with vitamin B6 by the mother. For some patients there was a worsening of symptoms on changing from pyridoxine to pyridoxal 5'-phosphate. Many of the mutations in PNPO affected residues involved in binding flavin mononucleotide or pyridoxal 5'-phosphate and many of them showed residual enzyme activity. One sequence change (R116Q), predicted to affect flavin mononucleotide binding and binding of the two PNPO dimers, and with high residual activity was found in Groups (ii) and (iii). This sequence change has been reported in the 1000 Genomes project suggesting it could be a polymorphism but alternatively it could be a common mutation, perhaps responsible for the susceptibility locus for genetic generalized epilepsy on 17q21.32 (close to rs72823592). We believe the reduction in PNPO activity and B6-responsive epilepsy in the patients reported here indicates that it contributes to the pathogenesis of epilepsy.
- Published
- 2014
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18. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
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Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, and Dattani MT
- Subjects
- Child, Child, Preschool, Female, Humans, Hypopituitarism diagnosis, Hypothalamus metabolism, Kidney metabolism, Male, Microcephaly diagnosis, Pituitary Hormones genetics, Syndrome, Transcription Factors, Aryl Hydrocarbon Receptor Nuclear Translocator genetics, Basic Helix-Loop-Helix Transcription Factors genetics, Hypopituitarism genetics, Kidney abnormalities, Microcephaly genetics, Mutation genetics, Pituitary Hormones metabolism, Visual Perception
- Abstract
We describe a previously unreported syndrome characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children. Homozygosity mapping and exome sequencing revealed a novel homozygous frameshift mutation in the basic helix-loop-helix transcription factor gene ARNT2 (c.1373_1374dupTC) in affected individuals. This mutation results in absence of detectable levels of ARNT2 transcript and protein from patient fibroblasts compared with controls, consistent with nonsense-mediated decay of the mutant transcript and loss of ARNT2 function. We also show expression of ARNT2 within the central nervous system, including the hypothalamus, as well as the renal tract during human embryonic development. The progressive neurological abnormalities, congenital hypopituitarism and post-retinal visual pathway dysfunction in affected individuals demonstrates for the first time the essential role of ARNT2 in the development of the hypothalamo-pituitary axis, post-natal brain growth, and visual and renal function in humans.
- Published
- 2013
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19. Nasal-type extranodal natural killer/T-cell lymphoma presenting with extensive leg ulcers.
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Chia HY, Tey HL, Tan KB, and Chong WS
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- Biomarkers, Tumor analysis, CD56 Antigen analysis, Herpesvirus 4, Human isolation & purification, Humans, Ki-1 Antigen analysis, Leg Ulcer drug therapy, Lymphoma, Extranodal NK-T-Cell drug therapy, Lymphoma, Extranodal NK-T-Cell virology, Lymphoma, T-Cell, Cutaneous drug therapy, Lymphoma, T-Cell, Cutaneous virology, Male, Middle Aged, Skin Neoplasms drug therapy, Leg Ulcer pathology, Lymphoma, Extranodal NK-T-Cell pathology, Lymphoma, T-Cell, Cutaneous pathology, Skin Neoplasms pathology
- Abstract
Primary cutaneous T-cell lymphomas are rare and can be difficult to classify precisely. We present a case of extranodal natural killer (NK)/T-cell lymphoma in a previously healthy, immunocompetent man who presented with extensive necrotic leg ulcers and disseminated skin nodules. Immunohistochemical studies revealed that the tumour cells were positive for CD3, CD30, granzyme B and T-cell intracellular antigen-1, and negative for CD5 and CD56, with positive staining for Epstein-Barr virus (EBV) RNA on in situ hybridization. A diagnosis of extranodal NK/T-cell lymphoma was made, based on the presence of cytotoxic granules and positive EBV RNA staining. The patient was treated with a regimen of chemotherapy comprising corticosteroids, intravenous methotrexate, ifosphamide, L-asparaginase and etoposide with initial response.
- Published
- 2009
- Full Text
- View/download PDF
20. Indeterminate results on the interferon-gamma release assay for tuberculosis screening should not be ignored.
- Author
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Oon HH, Chong WS, and Liew CF
- Subjects
- False Negative Reactions, False Positive Reactions, Humans, Interferon-gamma, Enzyme-Linked Immunosorbent Assay methods, Immunosuppressive Agents therapeutic use, Psoriasis drug therapy, Tuberculosis diagnosis, Tumor Necrosis Factor-alpha antagonists & inhibitors
- Published
- 2008
- Full Text
- View/download PDF
21. Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice.
- Author
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Kinsler VA, Chong WK, Aylett SE, and Atherton DJ
- Subjects
- Child, Preschool, Epidemiologic Methods, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Melanoma congenital, Nevus, Pigmented congenital, Phenotype, Skin Neoplasms congenital, United Kingdom, Central Nervous System Diseases etiology, Melanoma complications, Nevus, Pigmented complications, Skin Neoplasms complications
- Abstract
Background: Congenital melanocytic naevi (CMNs) can be associated with abnormalities of the cental nervous system (CNS) and/or with melanoma. Quoted incidences for these complications vary in the literature, as do recommendations for investigations and follow-up., Objectives: To determine the incidence of complications, and to identify phenotypic features associated with a higher risk of complications., Methods: We reviewed records of 224 patients with CMNs seen in Dermatology clinic between 1991 and 2007. Patients were excluded if they had a complication at the time of referral. Magnetic resonance imaging (MRI) of the CNS was offered on the basis of CMN phenotype. Follow up was in clinic and/or by postal questionnaires., Results: One hundred and twenty patients (54 boys and 66 girls) who had MRI of the CNS were included in the analysis. Mean age at MRI was 2.46 years (median 1.20). Mean follow up was 8.35 years (median 7.86). Sixty-five per cent had naevi > 20 cm projected adult size or multiple CMNs (40% > 40 cm), and 83% had satellite lesions at birth. Outcome measures were MRI abnormality, clinical neurological abnormality, any tumour, malignant melanoma, and death. No complications were seen in the 16 patients with no satellite lesions at birth. MRI and/or clinical neurological abnormalities were found in 22 patients (18%) and were significantly associated with projected adult size of the CMN (particularly > 40 cm), and independently with male gender. Tumours occurred in five patients, two of which were malignant melanoma (1.7%). Due to small numbers there was no significant association between phenotype and occurrence of tumours. Three patients (2.5%) died (one from neuromelanosis and two from melanoma in patients with normal MRI scans). Death was significantly associated with CMN size > 40 cm. Importantly, there was no significant association between CMN distribution (including posterior axial location) and adverse outcomes., Conclusions: This is the largest study of CNS imaging in patients with CMNs. We report a newly recognized association between male gender and neurological complications, dispute the previously reported association between CMN site and neurological complications, and quantify the associations between CMN size, satellite lesions and neurological complications. We make recommendations for the management of these patients.
- Published
- 2008
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- View/download PDF
22. Antithyroperoxidase and antithyroglobulin antibodies in a five-year follow-up survey of populations with different iodine intakes.
- Author
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Li Y, Teng D, Shan Z, Teng X, Guan H, Yu X, Fan C, Chong W, Yang F, Dai H, Gu X, Yu Y, Mao J, Zhao D, Li J, Chen Y, Yang R, Li C, and Teng W
- Subjects
- Adolescent, Adult, Aged, Female, Follow-Up Studies, Humans, Male, Middle Aged, Thyrotropin blood, Autoantibodies blood, Iodide Peroxidase immunology, Iodine administration & dosage
- Abstract
Objective: In a follow-up study, we determined the prevalence, incidence, and natural course of positive antithyroperoxidase antibodies (TPOAbs) and antithyroglobulin antibodies (TgAbs) in the general population and examined the influences of iodine intake., Design: The study was conducted in Panshan, Zhangwu, and Huanghua, regions with mildly deficient, more than adequate, and excessive iodine intake, respectively. Of the 3761 unselected subjects who were enrolled at baseline, 3018 participated in the 5-yr follow-up study. Serum TSH, TPOAb, and TgAb levels were measured., Results: Among subjects in Panshan, Zhangwu, and Huanghua, the prevalence of positive TPOAbs was 11.23, 11.83 and 12.02%, respectively, whereas 11.23, 11.17, and 11.26% of subjects were TgAb positive, respectively. In the older population (> or =45 yr), TgAb-positive individuals were more frequent in Huanghua than Panshan and Zhangwu (P < 0.05). The 5-yr cumulative incidence of positive TPOAb was 2.08, 3.84, and 2.84% in Panshan, Zhangwu, and Huanghua, respectively, whereas 2.91, 3.64, and 5.07% of subjects were TgAb positive, respectively (P < 0.05), corresponding to the increase in iodine intake. Subjects who were TPOAb and/or TgAb positive at baseline developed thyroid dysfunctions more frequently than those without antibodies (14.44 vs. 3.31%, P < 0.01); their incidence of elevated TSH levels was 1.32, 8.46, and 15.38% in Panshan, Zhangwu, and Huanghua, respectively (P < 0.05)., Conclusions: Subjects who were TPOAb and TgAb positive at baseline developed thyroid dysfunctions more frequently than seronegative subjects. High iodine intake was a risk factor for developing hypothyroidism in antibody-positive subjects. A constant exposure to excessive iodine intake increased the incidence of positive TgAb.
- Published
- 2008
- Full Text
- View/download PDF
23. Leprosy-associated eccrine syringofibroadenoma of Mascaro.
- Author
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Tey HL, Chong WS, and Wong SN
- Subjects
- Adenoma, Sweat Gland etiology, Age Factors, Aged, Disease Progression, Female, Follow-Up Studies, Humans, Skin Neoplasms etiology, Sweat Gland Neoplasms etiology, Adenoma, Sweat Gland pathology, Eccrine Glands pathology, Fibroadenoma pathology, Leprosy, Lepromatous complications, Skin Neoplasms pathology, Sweat Gland Neoplasms pathology
- Abstract
Eccrine syringofibroadenoma of Mascaro is a rare benign tumour. There are five subtypes, one of which is known to occur in reaction to inflammatory and neoplastic dermatoses. We describe a patient with previous lepromatous leprosy presenting with multiple flesh-coloured verrucous plaques over the right foot. Histology was consistent with eccrine syringofibroadenoma. To our knowledge, this is the first reported case of multiple eccrine syringofibroadenomata occurring in association with leprosy. The tumours in this case are most likely reactive in nature, subsequent to multiple traumatic events with tissue remodelling in an insensate foot affected by leprosy. It is less probable that the tumours are a result of scarring from recurrent infections. We also raise the possibility of a neuroeccrine interaction, with sympathetic neuropathy in leprosy as a contributing factor in the pathogenesis.
- Published
- 2007
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- View/download PDF
24. Chronic iodine excess does not increase the incidence of hyperthyroidism: a prospective community-based epidemiological survey in China.
- Author
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Yang F, Shan Z, Teng X, Li Y, Guan H, Chong W, Teng D, Yu X, Fan C, Dai H, Yu Y, Yang R, Li J, Chen Y, Zhao D, Mao J, and Teng W
- Subjects
- Adolescent, Autoantibodies blood, Autoimmune Diseases physiopathology, China epidemiology, Diet, Female, Follow-Up Studies, Goiter complications, Humans, Hyperthyroidism etiology, Hyperthyroidism physiopathology, Incidence, Iodide Peroxidase immunology, Iodine administration & dosage, Male, Nutritional Status, Prospective Studies, Risk Factors, Thyroid Gland physiopathology, Time Factors, Hyperthyroidism epidemiology, Iodine urine
- Abstract
Objective: An increasing incidence of hyperthyroidism has been observed when iodine supplementation has been introduced to an iodine-deficient population. Moreover, the influence of chronic more than adequate or excessive iodine intake on the epidemiological features of hyperthyroidism has not been widely and thoroughly described. To investigate the influences of different iodine intake levels on the incidence of hyperthyroidism, we conducted a prospective community-based survey in three communities with mild-deficient, more than adequate (previously mild deficient iodine intake), and excessive iodine intake., Subjects and Methods: In three rural Chinese communities, a total of 3761 unselected inhabitants aged above 13 years participated in the original investigation and 3018 of them received identical examinations after 5 years. Thyroid function, levels of thyroid peroxidase antibody (TPOAb), thyroglobulin antibody and urinary iodine excretion were measured and thyroid ultrasound examination was also performed., Results: In three communities, median urinary iodine excretion was 88, 214, and 634 microg/l (P<0.05) respectively. The cumulative incidence of hyperthyroidism was 1.4, 0.9, and 0.8% (P>0.05) respectively. Autoimmune hyperthyroidism was predominant in thyroid hyperfunction in all the three cohorts. Either positive TPOAb (>50 U/ml) or goiter in original healthy participants was associated with the occurrence of unsuspected hyperthyroidism in 5 years (logistic regression, OR=4.2 (95% CI 1.7-8.8) for positive TPOAb, OR=3.1 (95% CI 1.4-6.8) for goiter)., Conclusion: Iodine supplementation may not induce an increase in hyperthyroidism in a previously mildly iodine-deficient population. Chronic iodine excess does not apparently increase the risk of autoimmune hyperthyroidism, suggesting that excessive iodine intake may not be an environmental factor involved in the occurrence of autoimmune hyperthyroidism.
- Published
- 2007
- Full Text
- View/download PDF
25. p21 gene polymorphisms in systemic lupus erythematosus.
- Author
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Kong EK, Chong WP, Wong WH, Lau CS, Chan TM, Ng PK, Song YQ, Mak W, and Lau YL
- Subjects
- Adult, Case-Control Studies, Cyclin-Dependent Kinase Inhibitor p21 biosynthesis, Female, Gene Expression, Gene Frequency, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Lupus Erythematosus, Systemic blood, Male, Middle Aged, Phenotype, RNA, Messenger genetics, Cyclin-Dependent Kinase Inhibitor p21 genetics, Lupus Erythematosus, Systemic genetics, Polymorphism, Single Nucleotide
- Abstract
Objective: Cyclin-dependent kinase inhibitor 1A (p21) is a negative regulator in the cell cycle. Development of sex-linked lupus-like syndrome in p21-/- mice and reduced p21 gene expression in patients with systemic lupus erythematosus (SLE) compared with those in healthy controls suggested that p21 is a susceptibility gene of SLE. We investigated the same by a case-control association study., Methods: Six single nucleotide polymorphisms, p21US G/A, p21DS C/A, p21-1022 G/A, p21C31 C/A, p21In2 G/C and p21UTR T/C, were genotyped in 516 SLE patients and 693 healthy controls. Association of genotypes and alleles with disease, disease phenotypes, haplotypes construction, linkage disequilibrium analysis and p21 mRNA expression were performed., Results: We found a significant association of p21US A allele (OR = 0.23, 95% CI: 0.14-0.38, P < 0.001) and p21-1022 A allele (OR = 1.95, 95% CI: 1.37-2.78, P < 0.001) with SLE. We identified significant differences in the frequencies of haplotypes ht1-ACACCC, which contains p21US A allele, and ht2-GCACCC, which contains p21-1022 A allele, between SLE patients and controls (P < 0.0001). Besides, the p21US GA was associated with SLE patients suffering from arthritis (P = 0.003). We also observed differential p21 mRNA expressions among different genotypes of p21US and p21-1022 which were statistically significant., Conclusion: Our results suggested that the p21US A allele and p21-1022 A allele were both associated with the development of SLE, and the p21US A allele was associated with arthritis in SLE patients.
- Published
- 2007
- Full Text
- View/download PDF
26. Expression of divalent metal transporter 1 (DMT1) isoforms in first trimester human placenta and embryonic tissues.
- Author
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Chong WS, Kwan PC, Chan LY, Chiu PY, Cheung TK, and Lau TK
- Subjects
- Adult, Biological Transport, DNA Primers chemistry, Female, Gestational Age, Humans, Immunohistochemistry, Intestinal Mucosa metabolism, Ions, Kidney metabolism, Lung metabolism, Placenta metabolism, Pregnancy, Pregnancy Trimester, First, Protein Isoforms, RNA, Messenger metabolism, Reverse Transcriptase Polymerase Chain Reaction, Time Factors, Tissue Distribution, Cation Transport Proteins biosynthesis, Cation Transport Proteins chemistry, Gene Expression Regulation, Gene Expression Regulation, Developmental, Iron-Binding Proteins biosynthesis, Iron-Binding Proteins chemistry, Placenta embryology
- Abstract
Background: Divalent metal transporter 1 (DMT1) is a transmembrane glycoprotein which mediates the proton-coupled transport of a variety of divalent metal ions. Two isoforms, which differ by the presence (DMT1-IRE) or absence (DMT1-nonIRE) of an iron-responsive element (IRE) in their 3' untranslated region, are implicated in apical iron transport and endosomal iron transport respectively. Although the expression pattern of DMT1 isoforms is tissue specific in adult, data regarding its expression in embryonic tissues are lacking., Methods: Semiquantitative RT-PCR and immunohistochemistry were used to study the mRNA and protein expression of both DMT1 isoforms in embryonic tissues between 8 and 14 weeks gestational age., Results: DMT1-IRE and DMT1-nonIRE expressions were ubiquitous in embryonic tissues examined. In the lung, statistically significant correlations were found between the levels of DMT1 isoform expression and gestational age. In the placenta, DMT1-IRE was the predominantly expressed isoform. Both isoform proteins were localized in embryonic epithelial cellular membrane., Conclusion: Both DMT1 isoforms are ubiquitously expressed in embryonic tissues in the first trimester. Predominant DMT1-IRE isoform expression in placenta suggests an iron-regulatory mechanism reminiscent of that in the adult duodenum. Epithelial distributions of both DMT1 isoforms are associated with the absorptive or excretory functions of the expressed tissues.
- Published
- 2005
- Full Text
- View/download PDF
27. Cutaneous sarcoidosis in Asians: a report of 25 patients from Singapore.
- Author
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Chong WS, Tan HH, and Tan SH
- Subjects
- Adolescent, Adult, Aged, Asian People, Body Piercing adverse effects, Female, Humans, Male, Middle Aged, Retrospective Studies, Sarcoidosis etiology, Sarcoidosis pathology, Sarcoidosis, Pulmonary ethnology, Singapore epidemiology, Skin Diseases etiology, Skin Diseases pathology, White People, Sarcoidosis ethnology, Skin Diseases ethnology
- Abstract
Sarcoidosis is a systemic noncaseating granulomatous disorder of unknown origin involving multiple organ systems. There has been no report so far to describe the epidemiological pattern of cutaneous involvement in sarcoidosis in South-East Asia with diverse ethnic groups. A retrospective study examining the clinicopathological features of all patients diagnosed with sarcoidosis at a tertiary dermatology centre in Singapore from 1980 to 2003 was conducted. Cutaneous sarcoidosis was diagnosed in 25 patients: 13 were Indian, 11 were Chinese and one was Eurasian. Cutaneous manifestations included papules, nodules, plaques and scarring alopecia. Extracutaneous involvement of lymph nodes (four patients), lungs (eight patients) and eyes (two patients) was seen. Eight patients had abnormal chest radiographic findings. Histopathological examination of skin lesions revealed noncaseating, epithelioid granulomatous infiltration in the dermis without evidence of mycobacterial infection, deep fungal infection or polarizable birefringent material. Treatment modalities included corticosteroids, hydroxychloroquine, isotretinoin, methotrexate and surgical excision. Five patients had complete resolution of the cutaneous lesions. Cutaneous sarcoidosis is rare in Asia and indeed in Singapore. Extracutaneous involvement is not uncommon and a thorough clinical evaluation should be undertaken.
- Published
- 2005
- Full Text
- View/download PDF
28. Brain morphometry and IQ measurements in preterm children.
- Author
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Isaacs EB, Edmonds CJ, Chong WK, Lucas A, Morley R, and Gadian DG
- Subjects
- Adolescent, Child, Developmental Disabilities etiology, Developmental Disabilities pathology, Female, Follow-Up Studies, Humans, Image Processing, Computer-Assisted methods, Infant, Newborn, Intelligence Tests, Magnetic Resonance Imaging methods, Male, Brain pathology, Infant, Premature psychology, Intelligence
- Abstract
Although IQ is thought to remain relatively stable in the normal population, a decline in IQ has been noted in children born preterm. It is not clear, however, to what extent the inclusion of children with clear neurological damage has influenced these findings. We examined IQ scores obtained in childhood and then again in adolescence from a group of children born at 30 weeks gestation or less who had been classified as neurologically normal at 7.5-8 years. They showed a significant decline in mean IQ scores over time. MRI scans obtained from a subset of children at adolescence were read as normal in approximately 50% of cases and, in the others, there were no consistent relationships between radiological abnormalities and IQ results. Such children can, however, have relatively subtle brain abnormalities that are not seen on conventional MRI, and we hypothesized that these would be related to declines in IQ. Voxel-based morphometry (VBM) analyses of the MRI scans revealed that absolute IQ scores were related to areas in both the parietal and temporal lobes. The analyses also showed that frontal and temporal lobe regions were associated with the decline in VIQ, while occipital and temporal lobe regions (including the hippocampi) were associated with the decline in PIQ. Hippocampal volume measurements were consistent with the VBM findings. We concluded that preterm children are at risk of declining IQ over time even if they have not suffered obvious neurological damage and that the decline is associated with specific neural regions. Whether this is true of children born at >30 weeks gestation and what other factors predispose to this decline have yet to be determined.
- Published
- 2004
- Full Text
- View/download PDF
29. Common NOD2 polymorphisms in Hong Kong Chinese patients with systemic lupus erythematosus.
- Author
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Chong WP, Ip WK, Lau CS, Chan TM, Padyukov L, and Lau YL
- Subjects
- Asian People, Genetic Predisposition to Disease, Hong Kong, Humans, Lupus Erythematosus, Systemic ethnology, Nod2 Signaling Adaptor Protein, Sweden, White People, Carrier Proteins genetics, Intracellular Signaling Peptides and Proteins, Lupus Erythematosus, Systemic genetics, Polymorphism, Genetic
- Published
- 2004
- Full Text
- View/download PDF
30. Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence.
- Author
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Devlin AM, Cross JH, Harkness W, Chong WK, Harding B, Vargha-Khadem F, and Neville BG
- Subjects
- Adolescent, Child, Child Behavior Disorders etiology, Child Behavior Disorders surgery, Child, Preschool, Cognition Disorders etiology, Cognition Disorders surgery, Developmental Disabilities etiology, Developmental Disabilities surgery, Epilepsy complications, Female, Follow-Up Studies, Humans, Infant, Male, Retrospective Studies, Treatment Outcome, Epilepsy surgery, Hemispherectomy
- Abstract
Hemispherectomy has been performed in the treatment of epilepsy in association with hemiplegia for over 50 years. However, the optimal timing of surgery with respect to age at presentation and the influence of underlying pathology on outcome is only slowly emerging. This study reports on the clinical course and outcomes of 33 children who underwent hemispherectomy at Great Ormond Street Hospital, London, between 1991 and 1997. Age at surgery was 0.33-17 years (median 4.25) with 1-8 years follow-up (median 3.4). The underlying pathology was developmental in 16 (10 hemimegalencephaly, two polymicrogyria, two focal cortical dysplasia, one diffuse cortical dysplasia and one microdysgenesis), acquired in 11 (six middle cerebral artery infarct, three post encephalitis/trauma, and one each of hemiconvulsion-hemiplegia epilepsy and perinatal ischaemic insult) and progressive in six children (four Rasmussen encephalitis, two Sturge-Weber syndrome). At follow-up, 52% were seizure free, 9% experienced rare seizures, 30% showed >75% reduction in seizures and 9% showed <75% seizure reduction or no improvement. Seizure freedom was highest in those with acquired pathology (82%), followed by those with progressive pathology (50%) and those with developmental pathology (31%). However, seizure freedom, rare seizures or >75% reduction in seizures occurred in 100% of those with progressive pathology, 91% of those with acquired and 88% of those with developmental pathology, indicating a worthwhile seizure outcome in all groups. Hemiplegia remained unchanged following surgery in 22 out of 33 children, improved in five and was worse in six. No significant cognitive deterioration or loss of language occurred, and four children showed significant cognitive improvement. Behavioural improvement was reported in 92% of those who had behaviour problems pre-operatively.
- Published
- 2003
- Full Text
- View/download PDF
31. Magnetic resonance imaging findings within 5 days of status epilepticus in childhood.
- Author
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Scott RC, Gadian DG, King MD, Chong WK, Cox TC, Neville BG, and Connelly A
- Subjects
- Brain Edema diagnosis, Brain Edema etiology, Child, Preschool, Female, Hippocampus pathology, Humans, Infant, Male, Reference Values, Seizures, Febrile complications, Status Epilepticus etiology, Time Factors, Magnetic Resonance Imaging, Status Epilepticus diagnosis
- Abstract
The nature of the relationships between status epilepticus, acute hippocampal injury, mesial temporal sclerosis (MTS) and temporal lobe epilepsy remains unclear. The aim of this study was to investigate whether generalized status epilepticus is associated with brain abnormalities, especially in the mesial temporal lobe, within 5 days of the acute event. Such changes may be the first part of a causative pathophysiological sequence relating status epilepticus and MTS. Thirty-five children with a history of status epilepticus, including 21 with a history of prolonged febrile convulsion (PFC), underwent qualitative and quantitative MRI investigations within 5 days of the acute episode. Quantitative assessments of the hippocampus included T(2) relaxometry and hippocampal volumetry. Hippocampal volumes were large in patients with PFC when compared with controls. In addition, T(2) relaxation time was elevated in patients with PFC compared with control subjects during the first 2 days of the acute event. No difference was observed in patients examined 3-5 days after the event. Patients with afebrile status epilepticus had a variety of imaging abnormalities including elevated hippocampal T(2) values, but no evidence of hippocampal enlargement. PFC is associated with hippocampal abnormalities, consistent with hippocampal oedema, whilst non-febrile status epilepticus is not. A systematic longitudinal study is required to characterize the evolution of these abnormalities and to determine whether any patient develops MTS.
- Published
- 2002
- Full Text
- View/download PDF
32. Acute disseminated encephalomyelitis, multiphasic disseminated encephalomyelitis and multiple sclerosis in children.
- Author
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Dale RC, de Sousa C, Chong WK, Cox TC, Harding B, and Neville BG
- Subjects
- Adolescent, Age Distribution, Biopsy, Brain pathology, Brain physiopathology, Child, Child, Preschool, Demyelinating Autoimmune Diseases, CNS pathology, Demyelinating Autoimmune Diseases, CNS physiopathology, Demyelinating Autoimmune Diseases, CNS therapy, Diagnosis, Differential, Disease Progression, Electroencephalography, Encephalomyelitis, Acute Disseminated diagnosis, Encephalomyelitis, Acute Disseminated pathology, Encephalomyelitis, Acute Disseminated physiopathology, Encephalomyelitis, Acute Disseminated therapy, Female, Follow-Up Studies, Humans, Infant, Leukocytosis blood, Leukocytosis etiology, Magnetic Resonance Imaging, Male, Multiple Sclerosis diagnosis, Multiple Sclerosis physiopathology, Multiple Sclerosis therapy, Recurrence, Remission, Spontaneous, Severity of Illness Index, Sex Distribution, Treatment Outcome, Demyelinating Autoimmune Diseases, CNS diagnosis
- Abstract
Forty-eight children with disseminated demyelination of the CNS, 28 with acute disseminated encephalomyelitis (ADEM), seven with multiphasic disseminated encephalomyelitis (MDEM) and 13 with multiple sclerosis were studied for a mean follow-up period of 5.64 years. The presentation findings of the ADEM/MDEM group were compared with those of the multiple sclerosis group. The following findings were more commonly seen in ADEM/MDEM presentation compared with the multiple sclerosis presentations: predemyelinating infectious disease (74 versus 38%, P: < 0.05); polysymptomatic presentation (91 versus 38%, P: < 0.002); pyramidal signs (71 versus 23%, P: < 0.01); encephalopathy (69 versus 15%, P: < 0.002); and bilateral optic neuritis (23 versus 8%, not significant). Seizures occurred only in the ADEM/MDEM group (17 versus 0%, not significant). Unilateral optic neuritis occurred only in the multiple sclerosis patients (23 versus 0%, P: < 0.01). There were no differences in the frequencies of transverse myelitis, brainstem involvement, cerebellar signs and sensory disturbance between the two groups. ADEM/MDEM patients were more likely to have blood leucocytosis (64 versus 22%, P: < 0.05), CSF lymphocytosis (64 versus 42%, not significant) and CSF protein elevation (60 versus 33%, not significant). Patients presenting with multiple sclerosis were more likely to have intrathecal synthesis of oligoclonal bands on presentation (64 versus 29%, not significant). MRI showed that subcortical white matter lesions were almost universal in both groups, though periventricular lesions were more common in multiple sclerosis (92 versus 44%, P: < 0.01). By contrast, in ADEM/MDEM there was absolute and relative periventricular sparing in 56 and 78% of patients, respectively. Follow-up MRI revealed complete or partial lesion resolution in 90% and no new lesions in the ADEM/MDEM group. All of the multiple sclerosis patients had new lesions on repeat MRI (five during relapse and six during asymptomatic convalescent phases). The outcome in the ADEM patients was mixed; 57% of patients made a complete recovery. The mean follow-up for the 35 ADEM/MDEM patients was 5.78 years (range 1.0-15.4 years). Eight of the 13 multiple sclerosis patients relapsed within the first year; 11 had a relapsing-remitting course, one a primary progressive course and one a secondary progressive course. These differences in the presentation of ADEM/MDEM compared with multiple sclerosis may help in the prognosis given to families regarding the possibility of later development of multiple sclerosis.
- Published
- 2000
- Full Text
- View/download PDF
33. Unsuspected thyrotoxicosis and hyperemesis gravidarum in Asian women.
- Author
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Chong W and Johnston C
- Subjects
- Adult, Asia ethnology, Female, Humans, Hyperemesis Gravidarum therapy, Pregnancy, Pregnancy Complications, Thyrotoxicosis drug therapy, Treatment Outcome, Hyperemesis Gravidarum complications, Thyrotoxicosis complications
- Abstract
This report describes three women with hyperemesis gravidarum caused by previously undiagnosed thyrotoxicosis. All three women were eight weeks pregnant and only one woman had typical features of thyrotoxicosis. Hyperemesis could not be controlled by anti-emetics. The patients were successfully treated with antithyroid drugs. Anti-thyroid treatment does not need to be continued once resolution of symptoms and thyrotoxicosis have occurred.
- Published
- 1997
- Full Text
- View/download PDF
34. A new appraisal of abnormalities of the odontoid process associated with atlanto-axial subluxation and neurological disability.
- Author
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Stevens JM, Chong WK, Barber C, Kendall BE, and Crockard HA
- Subjects
- Adolescent, Adult, Atlanto-Axial Joint diagnostic imaging, Atlanto-Axial Joint physiopathology, Child, Fractures, Bone diagnostic imaging, Humans, Odontoid Process diagnostic imaging, Tomography, X-Ray Computed, Atlanto-Axial Joint injuries, Joint Dislocations diagnostic imaging, Joint Instability diagnostic imaging, Odontoid Process abnormalities
- Abstract
It is well known that abnormalities of the odontoid process may be associated with subluxation and neuraxial compression. Modern computerized imaging is demonstrating that existing classifications are in need of revision since they no longer reflect current views on development, nor do they adequately explain the patterns of abnormality commonly encountered in clinical practice. This study is a description of 62 varied clinical cases examined by high definition computerized myelography or MRI in flexion and extension, some before and after stabilization procedures. From these descriptions, and a review of the old and more recent literature concerning phylogenesis and ontogenesis of the odontoid, the following conclusions were drawn. The dens within the atlas ring is not morphologically a centrum of the first cervical vertebra, but a projection arising from it. In os odontoideum the dens forms normally, but ossifies abnormally because of abnormal motion; it is a result rather than the cause of instability. Hypoplasia of the dens is usually incorrectly diagnosed. When present it is associated with atlanto-occipital assimilation, fusion of the second and third, or more, cervical vertebrae, loss or reduction in axial rotation of the head, basilar invagination and hindbrain deformity of Chiari type. Therefore it is part of a regional anomaly involving hypoplasia of the derivatives of the occipital and upper cervical somites. Recognition of these aspects simplifies both diagnosis and the formulation of therapeutic strategies for different types of clinical presentation.
- Published
- 1994
- Full Text
- View/download PDF
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