Supporting novel home network management interfaces with Openflow and NOX

The Homework project has examined redesign of existing home network infrastructures to better support the needs and requirements of actual home users. Integrating results from several ethnographic studies, we have designed and built a home networking platform providing detailed per-flow measurement and management capabilities supporting several novel management interfaces. This demo specifically shows these new visualization and control interfaces, and describes the broader benefits of taking an integrated view of the networking infrastructure, realised through our router's augmented measurement and control APIs. Aspects of this work have been published: the Homework Database in Internet Management (IM) 2011 and implications of the ethnographic results are to appear at the SIGCOMM W-MUST workshop 2011. Separate, more detailed expositions of the interface elements and system performance and implications are currently under submission at other venues. A partial code release is already available and we anticipate fuller public beta release by Q4 2011

Supporting novel home network management interfaces with Openflow and NOX

The Homework project has examined redesign of existing home network infrastructures to better support the needs and requirements of actual home users. Integrating results from several ethnographic studies, we have designed and built a home networking platform providing detailed per-flow measurement and management capabilities supporting several novel management interfaces. This demo specifically shows these new visualization and control interfaces, and describes the broader benefits of taking an integrated view of the networking infrastructure, realised through our router's augmented measurement and control APIs. Aspects of this work have been published: the Homework Database in Internet Management (IM) 2011 and implications of the ethnographic results are to appear at the SIGCOMM W-MUST workshop 2011. Separate, more detailed expositions of the interface elements and system performance and implications are currently under submission at other venues. A partial code release is already available and we anticipate fuller public beta release by Q4 2011

An Information Plane Architecture Supporting Home Network Management

Home networks have evolved to become small-scale versions of enterprise networks. The tools for visualizing and managing such networks are primitive and continue to require networked systems expertise on the part of the home user. As a result, non-expert home users must manually manage non-obvious aspects of the network - e.g., MAC address filtering, network masks, and firewall rules, using these primitive tools. The Homework information plane architecture uses stream database concepts to generate derived events from streams of raw events. This supports a variety of visualization and monitoring techniques, and also enables construction of a closed-loop, policy-based management system. This paper describes the information plane architecture and its associated policy-based management infrastructure. Exemplar visualization and closed-loop management applications enabled by the resulting system (tuned to the skills of non-expert home users) are discussed. © 2011 IEEE.Accepted versio

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. Objectives To delineate the phenotypic spectrum associated with interstitial 16p13.3 duplications, and perform a genotype-phenotype analysis. Results The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. The critically duplicated region encompasses a single gene, CREBBP, which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, the duplication arose de novo. Conclusions Interstitial 16p13.3 duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. The frequent de novo occurrence of 16p13.3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant

Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.

Hydroxyurea has proven efficacy in children and adults with sickle cell anemia (SCA), but with considerable inter-individual variability in the amount of fetal hemoglobin (HbF) produced. Sibling and twin studies indicate that some of that drug response variation is heritable. To test the hypothesis that genetic modifiers influence pharmacological induction of HbF, we investigated phenotype-genotype associations using whole exome sequencing of children with SCA treated prospectively with hydroxyurea to maximum tolerated dose (MTD). We analyzed 171 unrelated patients enrolled in two prospective clinical trials, all treated with dose escalation to MTD. We examined two MTD drug response phenotypes: HbF (final %HbF minus baseline %HbF), and final %HbF. Analyzing individual genetic variants, we identified multiple low frequency and common variants associated with HbF induction by hydroxyurea. A validation cohort of 130 pediatric sickle cell patients treated to MTD with hydroxyurea was genotyped for 13 non-synonymous variants with the strongest association with HbF response to hydroxyurea in the discovery cohort. A coding variant in Spalt-like transcription factor, or SALL2, was associated with higher final HbF in this second independent replication sample and SALL2 represents an outstanding novel candidate gene for further investigation. These findings may help focus future functional studies and provide new insights into the pharmacological HbF upregulation by hydroxyurea in patients with SCA

Therapeutic phlebotomy is safe in children with sickle cell anaemia and can be effective treatment for transfusional iron overload

Serial phlebotomy was performed on sixty children with sickle cell anaemia, stroke and transfusional iron overload randomized to hydroxycarbamide in the Stroke With Transfusions Changing to Hydroxyurea trial. There were 927 phlebotomy procedures with only 33 adverse events, all of which were grade 2. Among 23 children completing 30 months of study treatment, the net iron balance was favourable (-8.7 mg Fe/kg) with significant decrease in ferritin, although liver iron concentration remained unchanged. Therapeutic phlebotomy was safe and well-tolerated, with net iron removal in most children who completed 30 months of protocol-directed treatment