Muppet: MapReduce-Style Processing of Fast Data

MapReduce has emerged as a popular method to process big data. In the past few years, however, not just big data, but fast data has also exploded in volume and availability. Examples of such data include sensor data streams, the Twitter Firehose, and Facebook updates. Numerous applications must process fast data. Can we provide a MapReduce-style framework so that developers can quickly write such applications and execute them over a cluster of machines, to achieve low latency and high scalability? In this paper we report on our investigation of this question, as carried out at Kosmix and WalmartLabs. We describe MapUpdate, a framework like MapReduce, but specifically developed for fast data. We describe Muppet, our implementation of MapUpdate. Throughout the description we highlight the key challenges, argue why MapReduce is not well suited to address them, and briefly describe our current solutions. Finally, we describe our experience and lessons learned with Muppet, which has been used extensively at Kosmix and WalmartLabs to power a broad range of applications in social media and e-commerce.Comment: VLDB201

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. Patient(s): A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. Intervention(s): Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos. Main Outcome Measure(s): Live birth. Result(s): In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3′-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis. Conclusion(s): Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease. © 2009 American Society for Reproductive Medicine.postprin

Diagnostic difficulties in Sanfilippo disease

We reported on a 21 months old girl, diagnosed as Sanfilippo disease, MPSIIIB. Her mother was at 21 weeks of pregnancy when she first presented to us. The diagnostic pitfalls in the clinical, biochemical and genetic aspects were highlighted. The limited time frame for urgent molecular diagnosis, prenatal diagnostic tests and counselling issues were discussed.link_to_subscribed_fulltex

Fragile X positivity in Chinese children with autistic spectrum disorder

Chromosome analysis was performed in 105 Chinese children (96 boys, 9 girls) with autistic spectrum disorder to assess fragile X positivity. Seventy percent of these autistic children were mentally retarded. None of the children in the infantile autism group (N = 75) had fragile X positivity. Two boys in the autistic condition group (N = 30) had clinical features and chromosomal positivity for fragile X syndrome. The low (2%) prevalence rate of fragile X positivity in children with different degrees of expressivity of autistic features may be related to other factors rather than to pure autistic characteristics per se.link_to_subscribed_fulltex

Fragile X positivity in Chinese children with autistic spectrum disorder

Chromosome analysis was performed in 105 Chinese children (96 boys, 9 girls) with autistic spectrum disorder to assess fragile X positivity. Seventy percent of these autistic children were mentally retarded. None of the children in the infantile autism group (N = 75) had fragile X positivity. Two boys in the autistic condition group (N = 30) had clinical features and chromosomal positivity for fragile X syndrome. The low (2%) prevalence rate of fragile X positivity in children with different degrees of expressivity of autistic features may be related to other factors rather than to pure autistic characteristics per se.link_to_subscribed_fulltex

A case of perinatal lethal form of hypophosphatasia; and review of literatures

Hypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia. We report the first Chinese case of perinatal lethal form of hypophosphatasia due to previously reported pathogenic compound heterozygous mutation in the TNSALP gene; and successfully applied clinically in prenatal diagnostic testing. The authors emphasised the importance of accurate diagnosis of fetal presentation of skeletal dysplasia for genetic counselling, and discussed its differential diagnoses.link_to_subscribed_fulltex

Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene CP LEE

Abstract Thanatophoric dysplasia variant − San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene. We describe the first local case of TD-SD with missense mutation C746G in FGFR3 gene. Radiologically, major features consist of macrocephaly, wafer thin vertebral bodies, and metaphyseal flaring of tubular bones that differentiate from other types of thanatophoric dysplasia

Niemann-Pick disease in the Chinese. A report of four cases in three Chinese families

We report the first four documented cases of childhood Niemann-Pick disease in Chinese. The clinical histories and biochemical, histopathological and ultrastructural findings are given. The four children born to consanguineous parents were from three families. Three of the four cases have features of Type A disease while the younger of the affected sisters, who had over 20% residual sphingomyelinase activity, was more typically of Type B disease. Post-mortem cultured fibroblasts, when compared to control fibroblasts, revealed early features of the disease at the ultrastructural level.link_to_subscribed_fulltex

A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies

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