Search Results - "Kan, Amanda"
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Kaposiform haemangioendothelioma of the spine associated with fixed hyperlordotic deformity and Kasabach–Merritt Syndrome: a case report and literature review
Published in Skeletal radiology (01-04-2023)“…Kaposiform haemangioendothelioma (KHE) is a rare childhood disease classified by the International Society for the Study of Vascular Anomalies (ISSVA) as a…”
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Durable disease control with apatinib, irinotecan and temozolomide in a case of metastatic primitive myxoid mesenchymal tumour of infancy
Published in Pediatric blood & cancer (01-03-2023)Get full text
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Epidemiology and outcomes of pediatric transplant‐associated thrombotic microangiopathy in Hong Kong
Published in Pediatric transplantation (01-11-2022)“…Background Transplant‐associated thrombotic microangiopathy (TA‐TMA) is an under‐recognized yet potentially devastating complication of hematopoietic stem cell…”
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Endoplasmic reticulum chaperone prolyl 4-hydroxylase, beta polypeptide (P4HB) promotes malignant phenotypes in glioma via MAPK signaling
Published in Oncotarget (22-09-2017)“…Endoplasmic reticulum (ER) chaperone Prolyl 4-hydroxylase, beta polypeptide (P4HB) has previously been identified as a novel target for chemoresistance in…”
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Rare Pediatric Cerebellar High-Grade Gliomas Mimic Medulloblastomas Histologically and Transcriptomically and Show p53 Mutations
Published in Cancers (01-01-2024)“…Pediatric high-grade gliomas (HGG) of the cerebellum are rare, and only a few cases have been documented in detail in the literature. A major differential…”
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Case Report: Primary Thoracic Low-Grade Fibromyxoid Sarcoma in a Young Girl Presenting With Mediastinal Mass Syndrome
Published in Frontiers in pediatrics (17-06-2022)“…Low-grade fibromyxoid sarcomas (LGFMSs) are typically adult-onset tumors that arise from the extremities. Here, we report an exceptional case of primary…”
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Patterns of care and survival of Chinese glioblastoma patients in the temozolomide era: a Hong Kong population-level analysis over a 14-year period
Published in Neuro-oncology practice (01-02-2023)“…The aim of this study is to address the paucity of epidemiological data regarding the characteristics, treatment patterns and survival outcomes of Chinese…”
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Pyrexia, Massive Hepatomegaly, and Extreme Hyperferritinemia
Published in The American journal of medicine (01-06-2014)Get full text
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Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy
Published in European journal of paediatric neurology (01-07-2014)“…Abstract Alpha-dystroglycanopathies are a group of diseases due to reduced glycosylation of alpha-dystroglycan, which commonly result from mutations in POMT1 ,…”
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Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies
Published in Genes (01-11-2022)“…With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative…”
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Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
Published in Clinical genetics (01-05-2020)“…FLNC‐related myofibrillar myopathy could manifest as autosomal dominant late‐onset slowly progressive proximal muscle weakness; involvements of cardiac and/or…”
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To do genomics or not do? This is the question
Published in Glioma (Mumbai, India) (01-07-2020)Get full text
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HGG-37. A case ofETV6-NTRK3 fusion driven infantile hemispheric glioma (IHG) with acquired drug resistance against first- and second-generation NTRK-inhibitors
Published in Neuro-oncology (Charlottesville, Va.) (03-06-2022)“…A 3-month-old girl had left cerebral infantile hemispheric glioma (IHG), H3 wild type (wt), Grade IV (WHO2020) with diffuse leptomeningeal and spinal…”
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HGG-37. A case of ETV6-NTRK3 fusion driven infantile hemispheric glioma (IHG) with acquired drug resistance against first- and second-generation NTRK-inhibitors
Published in Neuro-oncology (Charlottesville, Va.) (03-06-2022)“…A 3-month-old girl had left cerebral infantile hemispheric glioma (IHG), H3 wild type (wt), Grade IV (WHO2020) with diffuse leptomeningeal and spinal…”
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PATH-10. Nanopore sequencing reveals novel ALK fusion with interposed element in a neonate with hemispheric glioma
Published in Neuro-oncology (Charlottesville, Va.) (03-06-2022)“…Here we describe the clinical course and unique molecular findings in a female neonate with infantile hemispheric glioma (IHG). The patient presented at the…”
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Bleeding duodenal choriocarcinoma: An unusual cause of positive urine pregnancy test
Published in Surgical practice (01-11-2005)“…Primary choriocarcinoma of the duodenum is exceedingly rare. Only a few cases have been reported previously. A case of extragenital choriocarcinoma of the…”
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OMIC-07. FEASIBILITY AND UTILITY OF EPIGENOMIC PROFILING FOR CHILDHOOD CNS TUMORS IN HONG KONG
Published in Neuro-oncology (Charlottesville, Va.) (01-06-2021)“…Genome-wide DNA methylation profiling has emerged as an important diagnostic tool that complements histopathology for CNS tumors in children and adults…”
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Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods
Published in Neuromuscular disorders : NMD (01-06-2017)“…Highlights • ACTA1 -myopathy can present with cytoplasmic bodies in the absence of nemaline rods. • p.Asn94Lys ACTA1 mutation may be linked to this pathology…”
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A sarcoma of 23 years' duration: symptom duration is not a reliable parameter to exclude malignancy
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01-06-2012)“…This report describes a 31-year-old woman with a 23-year history of a right buttock mass that was otherwise asymptomatic, but was proven to be a low-grade…”
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