Search Results - "Chiu, Annie"
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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)
Published in Annals of neurology (01-11-2024)“…To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave…”
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The role of the gut-microbiome-brain axis in metabolic remodeling amongst children with cerebral palsy and epilepsy
Published in Frontiers in neurology (27-02-2023)“…Epilepsy-associated dysbiosis in gut microbiota has been previously described, but the mechanistic roles of the gut microbiome in epileptogenesis among…”
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3
Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets
Published in Orphanet journal of rare diseases (28-08-2018)“…The burden of rare diseases is important for healthcare planning but difficult to estimate. This has been facilitated by the development of ORPHAcodes, a…”
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Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale
Published in Orphanet journal of rare diseases (02-09-2022)“…Abstract Background Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic…”
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5
Prevalence and predictors of depressive symptoms among caregivers of patients with epilepsy in Hong Kong
Published in Epilepsy & behavior (01-10-2023)“…•The prevalence of high depressive symptoms for caregivers of patients with epilepsy (PWE) in Hong Kong was 23.8%.•A high perceived caregiving burden was a…”
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6
Importance of parental involvement in paediatric palliative care in Hong Kong: qualitative case study
Published in Archives of disease in childhood (01-02-2024)“…ObjectiveTo compare and contrast the perceived care needs of children with life-limiting conditions (CLLC) from the perspectives of the children, parents and…”
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Mammographic Determination of Breast Volume by Elliptical Cone Estimation
Published in World journal of surgery (01-07-2010)“…Background We propose a new breast volume calculation method, treating the breast as an elliptical cone on craniocaudal and medial–lateral-oblique mammograms…”
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Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
Published in Molecular genetics & genomic medicine (01-05-2020)“…Background Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations…”
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Prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014–2018
Published in European journal of neurology (01-07-2021)“…Background There has been increasing attention focused on the epidemiology of rare diseases (RDs) in recent years. Rare neurological diseases (RNDs) constitute…”
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10
Postoperative PTH monitoring of hypocalcemia expedites discharge after thyroidectomy
Published in American journal of otolaryngology (01-11-2014)“…Abstract Purpose Hypocalcemia is the most common complication after total thyroidectomy. Some patients need to stay in the hospital for monitoring of…”
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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency
Published in JIMD reports (01-05-2019)“…Background Primary coenzyme Q10 (CoQ10) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved…”
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12
Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01-12-2021)“…A 14-year-old boy who first presented with symptoms of facioscapulohumeral muscular dystrophy type 1 from age 11 years. (a-c)Axial T1-weighted and (d-f) short…”
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13
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region
Published in Brain & development (Tokyo. 1979) (01-11-2022)“…Guillain-Barré syndrome (GBS) is a rare acquired immune-mediated polyneuropathy. Updated population-based data concerning paediatric GBS is needed. Paediatric…”
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14
Diffuse and Focal Corticospinal Tract Disease and Its Impact on Patient Disability in Multiple Sclerosis
Published in Journal of neuroimaging (01-03-2015)“…ABSTRACT BACKGROUND AND PURPOSE We investigated the impact of focal and diffuse corticospinal tracts damage on sensory‐motor disability in multiple sclerosis…”
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Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome
Published in European journal of medical genetics (01-11-2016)“…Abstract Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive,…”
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16
Double‐Blinded, Placebo‐Controlled Trial of Green Tea Extracts in the Clinical and Histologic Appearance of Photoaging Skin
Published in Dermatologic surgery (01-07-2005)“…Background. Green tea extracts have gained popularity as ingredients in topical skin care preparations to treat aging skin. Green tea polyphenolic compounds…”
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Best Clinical Practices with ATX-101 for Submental Fat Reduction: Patient-related Factors and Physician Considerations
Published in Plastic and reconstructive surgery. Global open (12-07-2021)“…Submental fat can be reduced with ATX-101 (deoxycholic acid injection), a customizable and minimally invasive alternative to liposuction. In the years since…”
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Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10
Published in Molecular autism (26-06-2017)“…Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However,…”
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19
A fatal case of COQ7 -associated primary coenzyme Q 10 deficiency
Published in JIMD reports (01-05-2019)“…Primary coenzyme Q (CoQ ) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ…”
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Journal Article -
20
Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
Published in Child neurology open (2018)“…The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart…”
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