HKG: an open genetic variant database of 205 Hong Kong cantonese exomes.

HKG is the first fully accessible variant database for Hong Kong Cantonese, constructed from 205 novel whole-exome sequencing data. There has long been a research gap in the understanding of the genetic architecture of southern Chinese subgroups, including Hong Kong Cantonese. HKG detected 196 325 high-quality variants with 5.

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, proliferation, and differentiation. These include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), cardiofaciocutaneous (CFC) syndrome, and Costello syndrome (CS), clinical manifestations include growth retardation, developmental delay, cardiac defects, and specific dysmorphic features. There were abundant publications describing the genotype and phenotype from the Western populations.

A database linking Chinese patents to China's census firms.

To meet researchers' increasing interest in the fast growing innovation activities taking place in China, we match patents filed with China's State Intellectual Property Office to firms covered in China's Census. China has experienced a strong growth in patent filings over the past two decades, and has since 2011 become the world's top patent filing country. China's Census database covers about one million unique manufacturing firms from 1998-2009, representing the broad Chinese economy.

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Background: Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to date, causative genes for only a fraction of them are currently known.

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.

Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal muscle weakness (its cardinal features), we suggest that PABPN1 gene analysis should be the first-line investigation to rule out this condition. Muscle biopsy can be reserved for atypical cases.

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.

With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis.

Risk factors associated with linezolid-nonsusceptible enterococcal infections.

Linezolid is one of few treatment options available for vancomycin-resistant enterococci. The present study investigated risk factors for linezolid-nonsusceptible enterococci using a case-control study of 15 cases and 60 control patients. Previous hospitalization, admission to a medical service, comorbidity, and linezolid and sulfonamide therapy were identified as risk factors.

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel.

Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification.

Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification.

Design: Case report.

Setting: University assisted reproduction unit.

Incidence of types of cancer among HIV-infected persons compared with the general population in the United States, 1992-2003.

Background: Persons who are HIV-infected may be at higher risk for certain types of cancer than the general population.

Objective: To compare cancer incidence among HIV-infected persons with incidence in the general population from 1992 to 2003.

Design: Prospective observational cohort studies.

A study of pH-responsive microgel dispersions: from fluid-to-gel transitions to mechanical property restoration for load-bearing tissue.

An interesting, and potentially important, challenge for colloid scientists is to design injectable dispersions that enable repair of damaged and degenerated tissue. This work presents a study of the ability of pH-responsive microgel particles to restore the mechanical properties of load-bearing soft tissue. Microgel particles are cross-linked polymer colloid particles that are swollen with solvent.

Clinical toxicity of highly active antiretroviral therapy in a home-based AIDS care program in rural Uganda.

Background: We evaluated clinical toxicity in HIV-infected persons receiving antiretroviral therapy (ART) in Uganda.

Methods: From May 2003 through December 2004, adults with a CD4 cell count < or =250 cells/microL or World Health Organization stage 3/4 HIV disease were prescribed ART. We calculated probabilities for time to toxicity and single-drug substitution as well as multivariate-adjusted hazard ratios for development of toxicity.

Poly(DEAEMa-co-PEGMa): a new pH-responsive comb copolymer stabilizer for emulsions and dispersions.

Stimulus responsive copolymers are an important class of surfactants that are attracting growing attention in the literature. When used to stabilize colloids, they confer responsiveness to an otherwise nonresponsive system. In this work, a new pH-responsive comb copolymer surfactant, poly(DEAEMa-co-PEGMa), where DEAEMa and PEGMa are diethylaminoethyl methacrylate and poly(ethylene glycol) methacrylate, is introduced and used to stabilize emulsions and particulate dispersions.

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.

We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation.

Methods: A retrospective review of 67 patients.

Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene.

We report on the first Chinese patient with triple-A syndrome, who presented at 22 months with status epilepticus secondary to hyponatraemia and hypoglycaemia. Subsequent endocrine investigations confirmed primary adrenal insufficiency and aldosterone deficiency. In the presence of achalasia and alacrima, this patient satisfies the diagnostic criteria of triple-A syndrome.

High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation.

Objectives: (1) To evaluate the prevalence of subtelomeric deletion in moderate to severe mental retardation population, (2) to assess the feasibility and cost-effectiveness of combined methodology in routine workup of this sub-population.

Method: Twenty unrelated patients using strict selection criteria were recruited for the study from the Clinical Genetic Service. Patients were initially screened by Multiplex Ligation-dependent Probe Amplification (MLPA) for subtelomeric imbalance followed by FISH analysis for anatomical integrity.

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

Objectives: To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene.

Design And Methods: The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers.

Results: MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR.

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

Background: Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

Mass tagging approach for mitochondrial thiol proteins.

A mass tagging approach is described for mitochondrial thiol proteins under nondenaturing conditions. This approach utilizes stable isotope-coded, thiol-reactive (4-iodobutyl)triphenylphosphonium (IBTP) reagents, i.e.