The X-ray decay of the ultraluminous supernova SN 1978K in NGC 1313

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Endoscopic submucosal dissection vs laparoscopic colorectal resection for early colorectal epithelial neoplasia

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MicroRNA-143 is a potential tumor suppressor targeting DNA methyltransferases 3a in colorectal cancer

Gastroenterology, 2009, v. 136 n. 5, suppl.1, p. A165, abstract no. 10692009 DDW (Digestive Disease Week) Abstract Supplement , AGA (American Gastroenterological Association) Institute Topic Forum, Oral sessions: Scientific sessions: Microrna and digestive cancers, Oral presentation no. 1069postprin

Group sequencing around a common due date

Author name used in this publication: C. T. Ng2007-2008 > Academic research: refereed > Publication in refereed journalAccepted ManuscriptPublishe

Increased risk of noninfluenza respiratory virus infections associated with receipt of inactivated influenza vaccine

We randomized 115 children to trivalent inactivated influenza vaccine (TIV) or placebo. Over the following 9 months, TIV recipients had an increased risk of virologically-confirmed non-influenza infections (relative risk: 4.40; 95 confidence interval: 1.31-14.8). Being protected against influenza, TIV recipients may lack temporary non-specific immunity that protected against other respiratory viruses. © 2012 The Author.postprin

Thalidomide-induced Teratogenesis : History and Mechanisms

Peer reviewedPublisher PD

Can the sustainable development goals reduce the burden of nutrition-related non-communicable diseases without truly addressing major food system reforms?

While the Millennium Development Goals (MDGs; 2000–2015) focused primarily on poverty reduction, hunger and infectious diseases, the proposed Sustainable Development Goals (SDGs) and targets pay more attention to nutrition and non-communicable diseases (NCDs). One of the 169 proposed targets of the SDGs is to reduce premature deaths from NCDs by one third; another is to end malnutrition in all its forms. Nutrition-related NCDs (NR-NCDs) stand at the intersection between malnutrition and NCDs. Driven in large part by remarkable transformations of food systems, they are rapidly increasing in most low and middle income countries (LMICs). The transformation to modern food systems began in the period following World War II with policies designed to meet a very different set of nutritional and food needs, and continued with globalization in the 1990s onwards. Another type of food systems transformation will be needed to shift towards a healthier and more sustainable diet – as will meeting many of the other SDGs. The process will be complex but is necessary. Communities concerned with NCDs and with malnutrition need to work more closely together to demand food systems change

Quantifying single nucleotide variant detection sensitivity in exome sequencing

BACKGROUND: The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our sensitivity to detect genuine polymorphisms. To fully interpret the polymorphisms identified in a genetic study it is often essential to both detect polymorphisms and to understand where and with what probability real polymorphisms may have been missed. RESULTS: Using down-sampling of 30 deeply sequenced exomes and a set of gold-standard single nucleotide variant (SNV) genotype calls for each sample, we developed an empirical model relating the read depth at a polymorphic site to the probability of calling the correct genotype at that site. We find that measured sensitivity in SNV detection is substantially worse than that predicted from the naive expectation of sampling from a binomial. This calibrated model allows us to produce single nucleotide resolution SNV sensitivity estimates which can be merged to give summary sensitivity measures for any arbitrary partition of the target sequences (nucleotide, exon, gene, pathway, exome). These metrics are directly comparable between platforms and can be combined between samples to give “power estimates” for an entire study. We estimate a local read depth of 13X is required to detect the alleles and genotype of a heterozygous SNV 95% of the time, but only 3X for a homozygous SNV. At a mean on-target read depth of 20X, commonly used for rare disease exome sequencing studies, we predict 5–15% of heterozygous and 1–4% of homozygous SNVs in the targeted regions will be missed. CONCLUSIONS: Non-reference alleles in the heterozygote state have a high chance of being missed when commonly applied read coverage thresholds are used despite the widely held assumption that there is good polymorphism detection at these coverage levels. Such alleles are likely to be of functional importance in population based studies of rare diseases, somatic mutations in cancer and explaining the “missing heritability” of quantitative traits

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome

OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. Hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2/7 patients. Emergency deep brain stimulation (DBS) was life saving in 1 patient, resulting in immediate clinical benefit with complete cessation of violent hyperkinetic movements. Five patients had well-controlled epilepsy and 1 had drug-resistant seizures. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. One patient had a diffuse astrocytoma (WHO grade II), surgically removed at age 16. CONCLUSIONS: Our findings support the causative role of GNAO1 mutations in an expanded spectrum of early-onset epilepsy and movement disorders, frequently exacerbated by specific triggers and at times associated with self-injurious behavior. Tetrabenazine and DBS were the most useful treatments for dyskinesia

Universal antenatal human immunodeficiency virus testing in Hong Kong: consensus statement.

Following the recommendations of the Advisory Council on AIDS, Hong Kong, the Hospital Authority announced plans to introduce universal antenatal screening for human immunodeficiency virus infection and hence, a consensus conference was held to discuss strategies for implementing such screening in Hong Kong. This paper reports the discussions of the consensus conference. The consensus meeting group consisted of 15 clinicians and scientists from Hong Kong, Macau, and Thailand. Seven commonly asked questions concerning mother-to-child transmission of human immunodeficiency virus were selected for discussion by the participating panellists. Information on the laboratory diagnosis of human immunodeficiency virus infection and the efficacy of preventive measures in reducing mother-to-child transmission of human immunodeficiency virus were reviewed. Data from local studies was also presented and discussed. The timing, potential problems, and cost issues involved in testing all pregnant women in Hong Kong for human immunodeficiency virus were then considered.published_or_final_versio