Gastro-intestinal stromal tumours in Hong Kong

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Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family

Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the pure-form autosomal dominant type is the one most commonly reported. Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant hereditary spastic paraplegias. Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia. To our knowledge, this is the first report of a gene mutation in hereditary spastic paraplegias in our locality. DNA-based diagnosis plays a key role in the early diagnosis of familial hereditary spastic paraplegias.published_or_final_versio

Wilson's disease: A patient undiagnosed for 18 years

Wilson's disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. The diagnosis of Wilson's disease may nonetheless be overlooked if only established clinical and laboratory tests are used as diagnostic criteria. We report diagnosis of the disorder using genetic analysis of ATP7B in a presymptomatic sibling who escaped diagnosis during family screening 18 years previously. The patient was 11 months old when family screening was performed following diagnosis of Wilson's disease in an elder sister. The boy was considered to be unaffected on the basis of laboratory results in the expected range: serum copper level, 4.6 μmol/L; serum ceruloplasmin level, 0.16 g/L; and 24-hour urinary copper excretion, 0.14 μmol/day. Molecular analysis of ATP7B was performed; it revealed that the two siblings shared the same compound heterozygous mutations (G943D and 2299delC). We recommend that molecular diagnosis is the only definitive means of diagnosing Wilson's disease in children younger than 1 year.published_or_final_versio

Detection of 10-nm Superparamagnetic Iron Oxide Nanoparticles Using Exchange-Biased GMR Sensors in Wheatstone Bridge

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Oral arsenic trioxide in the treatment of relapsed acute promyelocytic leukaemia

INTRODUTION: Arsenic trioxide (As2O3) induces a remission in over 90% of patients with relapsed acute promyelocytic leukaemia (APL). To date, only the intravenous (i.v.) preparation of As2O3 has been used. We have recently developed an oral preparation of As2O3 that achieves blood levels of elemental arsenic comparable with those of i.v. As2O3 (Eur J Clin Pharmacol Oct 11, 2002 online). In this study, the efficacy and safety of oral As2O3 were …published_or_final_versio

Oral arsenic trioxide in the treatment of relapsed acute promyelocytic leukaemia

INTRODUTION: Arsenic trioxide (As2O3) induces a remission in over 90% of patients with relapsed acute promyelocytic leukaemia (APL). To date, only the intravenous (i.v.) preparation of As2O3 has been used. We have recently developed an oral preparation of As2O3 that achieves blood levels of elemental arsenic comparable with those of i.v. As2O3 (Eur J Clin Pharmacol Oct 11, 2002 online). In this study, the efficacy and safety of oral As2O3 were …published_or_final_versio

Synthesis and characterization of self-assembled monolayer and bilayer carboxyl-group functionalized magnetic nanoparticles

This journal issue contains selected papers from the 2012 International Magnetics (INTERMAG) ConferenceMagnetic nanoparticles functionalized with carboxyl-group have considerable potential to be used as bio-labels due to their conjugation abilities with proteins. Here, we synthesized the iron oxide nanoparticles functionalized with carboxyl groups through self-assembled monolayer coating using citric acid and self-assembled bilayer coating using fatty acids. Their dimension, hydrodynamic size, surface property, and magnetic behavior were characterized through transmission electron microscopy, dynamic light scattering, Fourier transform infrared spectroscopy, thermal gravimetric analysis, and vibrating sample magnetometry. We also confirmed the binding ability of these nanoparticles with bovine serum albumin on thin gold film. © 2012 IEEE.published_or_final_versionThe IEEE International Magnetics Conference (INTERMAG 2012), Vancouver, BC., 7-11 May 2012. In IEEE Transactions on Magnetics, 2012, v. 48 n. 11, p. 3299-330

Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients

Epilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic molecular pathology and reduces over-reliance on traditional clinical classification. Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. We report two unrelated Hong Kong Chinese patients with this condition presenting with febrile seizures, epilepsy with different semiologies, psychomotor retardation, and recurrent status epilepticus. Two different mutations were characterised, viz NM_001165963.1: c.680T>G; NP_001159435.1: p.I227S and NM_001165963.1: c.3953T>G; NP_001159435.1: p.L1318R (novel). Genetic characterisation conveys a definitive diagnosis and is important from the perspective of selecting anti-epileptic drug therapy and genetic counselling.published_or_final_versio

Novel Hybrid Au/Fe3O4 Magnetic Octahedron-like Nanoparticles with Tunable Size

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Synthesis and Morphology Control of Gold/Iron oxide Magnetic Nanocomposites via a Simple Aqueous Method

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