Detection of poliovirus-infected macrophages in thymus of patients with myasthenia gravis

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Giant tortoise genomes provide insights into longevity and age-related disease

© 2018, The Author(s), under exclusive licence to Springer Nature Limited. Giant tortoises are among the longest-lived vertebrate animals and, as such, provide an excellent model to study traits like longevity and age-related diseases. However, genomic and molecular evolutionary information on giant tortoises is scarce. Here, we describe a global analysis of the genomes of Lonesome George—the iconic last member of Chelonoidis abingdonii—and the Aldabra giant tortoise (Aldabrachelys gigantea). Comparison of these genomes with those of related species, using both unsupervised and supervised analyses, led us to detect lineage-specific variants affecting DNA repair genes, inflammatory mediators and genes related to cancer development. Our study also hints at specific evolutionary strategies linked to increased lifespan, and expands our understanding of the genomic determinants of ageing. These new genome sequences also provide important resources to help the efforts for restoration of giant tortoise populations

Metastatic canine mammary carcinomas can be identified by a gene expression profile that partly overlaps with human breast cancer profiles

<p>Abstract</p> <p>Background</p> <p>Similar to human breast cancer mammary tumors of the female dog are commonly associated with a fatal outcome due to the development of distant metastases. However, the molecular defects leading to metastasis are largely unknown and the value of canine mammary carcinoma as a model for human breast cancer is unclear. In this study, we analyzed the gene expression signatures associated with mammary tumor metastasis and asked for parallels with the human equivalent.</p> <p>Methods</p> <p>Messenger RNA expression profiles of twenty-seven lymph node metastasis positive or negative canine mammary carcinomas were established by microarray analysis. Differentially expressed genes were functionally characterized and associated with molecular pathways. The findings were also correlated with published data on human breast cancer.</p> <p>Results</p> <p>Metastatic canine mammary carcinomas had 1,011 significantly differentially expressed genes when compared to non-metastatic carcinomas. Metastatic carcinomas had a significant up-regulation of genes associated with cell cycle regulation, matrix modulation, protein folding and proteasomal degradation whereas cell differentiation genes, growth factor pathway genes and regulators of actin organization were significantly down-regulated. Interestingly, 265 of the 1,011 differentially expressed canine genes are also related to human breast cancer and, vice versa, parts of a human prognostic gene signature were identified in the expression profiles of the metastatic canine tumors.</p> <p>Conclusions</p> <p>Metastatic canine mammary carcinomas can be discriminated from non-metastatic carcinomas by their gene expression profiles. More than one third of the differentially expressed genes are also described of relevance for human breast cancer. Many of the differentially expressed genes are linked to functions and pathways which appear to be relevant for the induction and maintenance of metastatic progression and may represent new therapeutic targets. Furthermore, dogs are in some aspects suitable as a translational model for human breast tumors in order to identify prognostic molecular signatures and potential therapeutic targets.</p

The Psychometric Properties of a New Measure of Sensory Behaviors in Autistic Children

Unusual reactions to sensory input became part of the diagnostic criteria for autism spectrum disorder in the DSM-5. Measures accurately assessing these symptoms are important for clinical decisions. This study examined the reliability and validity of the Sensory Behavior Questionnaire, a parent-report scale designed to assess frequency and impact of sensory behaviors in autistic children. The scale demonstrated excellent internal consistency and concurrent validity, and was a better predictor of autistic symptoms than the Short Sensory Profile within a group of 66 school-age autistic children. The scale also successfully discriminated between autistic and typical children of similar age and ability. The Sensory Behavior Questionnaire has potential as a measure of sensory behaviors in children on the autism spectrum.Medical Research Council; Research at the Centre for Research in Autism and Education; The Clothworkers’ Foundation and Pears Foundation

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Analisa Teknis Dan Ekonomis Pengembangan Industri Rumah Apung Sebagai Pendukung Wisata Bahari Indonesia

Tujuan dari studi ini adalah melakukan analisa teknis dan ekonomis pengembangan industri rumah apung di Indonesia. Pertama, melakukan analisa market pasar rumah apung terhadap lokasi - lokasi pariwisata bahari Indonesia yang dijadikan sebagai target pasar dari rumah apung. Kedua, melakukan perencanaan desain rumah apung termasuk pemilihan material dan konstruksi. Ketiga, melakukan perencanaan pembangunan pabrik termasuk pemilihan lokasi pabrik,  proses produksi, penentuan kapasitas produksi, peralatan dan mesin yang digunakan dalam proses produksi. Lokasi pabrik berada di Jalan Raya Manyar, Manyar, Kab. Gresik, Jawa Timur. Terakhir, melakukan analisa ekonomis meliputi analisa biaya investai pembangunan industri yaitu sebesar Rp 5.715.716.000 berupa biaya pembelian tanah, pembangunan, pembelian peralatan dan mesin. hasil yang didapatkan adalah Payback Period terjadi pada tahun ke- 9 dengan nilai kira-kira sebesar Rp 1.571.240.000. Nilai Net Present Value kira-kira sebesar Rp 1.071.682.000. Nilai Internal Rate of Return sebesar 12,32 %  lebih besar dari bunga bank yang telah ditetapkan yaitu 10,25%.

Analisa Teknis dan Ekonomis Pengembangan Industri Rumah Apung sebagai Pendukung Wisata Bahari Indonesia

Tujuan dari studi ini adalah melakukan analisa teknis dan ekonomis pengembangan industri rumah apung di Indonesia. Pertama, melakukan analisa market pasar rumah apung terhadap lokasi - lokasi pariwisata bahari Indonesia yang dijadikan sebagai target pasar dari rumah apung. Kedua, melakukan perencanaan desain rumah apung termasuk pemilihan material dan konstruksi. Ketiga, melakukan perencanaan pembangunan pabrik termasuk pemilihan lokasi pabrik, proses produksi, penentuan kapasitas produksi, peralatan dan mesin yang digunakan dalam proses produksi. Lokasi pabrik berada di Jalan Raya Manyar, Manyar, Kab. Gresik, Jawa Timur. Terakhir, melakukan analisa ekonomis meliputi analisa biaya investai pembangunan industri yaitu sebesar Rp 5.715.716.000 berupa biaya pembelian tanah, pembangunan, pembelian peralatan dan mesin. hasil yang didapatkan adalah Payback Period terjadi pada tahun ke- 9 dengan nilai kira-kira sebesar Rp 1.571.240.000. Nilai Net Present Value kira-kira sebesar Rp 1.071.682.000. Nilai Internal Rate of Return sebesar 12,32 % lebih besar dari bunga bank yang telah ditetapkan yaitu 10,25%

Improved survival in the treatment of squamous carcinoma of the oral tongue

During the past 15 years, newer trends in the management of oral tongue cancer have included increased use of elective neck dissection and mandible-sparing procedures, as well as a commitment to postoperative radiotherapy in patients with stage III and IV tumors. We retrospectively reviewed the records of 297 consecutive patients who underwent primary treatment of a squamous cancer of the oral tongue at our institution between 1978 and 1987 to determine the effects of the aforementioned therapeutic approaches on patients' survival. Determinate 5-year survival was 65% overall (82% for stages I and II, 49% for stages III and IV), which represents a significant improvement when compared with the survival rates we reported for the preceding 10-year period, despite the fact that the distribution of patients according to stage was about the same. Some type of lymphadenectomy was performed in 130 patients, 63 of whom underwent elective node dissection for T1 or T2 lesions. Forty-one percent of the latter had positive nodes, which upstaged the disease in a significant proportion of NO patients. The number of positive nodes (more than two positive nodes) was a significant predictor of survival (p=0.03). Postoperative radiotherapy was performed in 70% of patients with stage III or IV tumors. In this group of patients, the incidence of neck recurrence was reduced (13% versus 29% for patients who did not receive radiotherapy). The only long-term survivors among patients with stage IV tumors were those who received postoperative radiotherapy. Our results strongly suggest that the improvement in results is related to a more aggressive and effective treatment of the neck

Population dynamics and asynchrony at fine spatial scales: a case history of sockeye salmon (Oncorhynchus nerka) population structure in Alaska, USA

Pacific salmon (Oncorhynchus spp.) exemplify the ways in which populations are structured by homing and the abiotic factors affecting their dynamics in discrete breeding and rearing habitats. What is the finest spatial scale of their population structure, and where do clusters of spatially proximate breeding groups lie along the continuum from isolated populations – metapopulation – patchy panmictic population? To investigate these questions, we monitored sockeye salmon, Oncorhynchus nerka, spawning in a complex of habitats ~1 km apart, joining to form a single stream flowing into Iliamna Lake, Alaska, USA. Annual surveys revealed levels of asynchrony in productivity that were comparable with values reported for sockeye salmon spawning in separate streams flowing into lakes elsewhere in Bristol Bay. A mark–recapture study revealed very little movement of spawning adults among habitats. The ponds occupied at highest density varied among years,and salmon consistently arrived and spawned later in one pond than the others. These results are consistent with the hypothesis that the salmon structured as a small-scale metapopulation rather than a single panmictic population

Tracheobronchial injury in the setting of an esophagectomy for cancer: postoperative discovery a bad omen

A tracheobronchial injury is an uncommon complication of an esophagectomy. Differences in outcomes may exist for patients with injuries detected intraoperatively and postoperatively. A retrospective review was performed for patients who underwent an esophagectomy for cancer at Jackson Memorial Hospital/University of Miami from January 2000 to June 2012. An injury to the tracheobronchial tree occurred in 7 of 425 patients (1.6%). The majority of the operations were performed via a transhiatal approach (87.8%). Patients with airway injuries were older (median 73 vs. 63), more likely to have squamous cell carcinoma (85.7% vs. 17.9%), and with proximal tumors (85.7% vs. 14.1%). When given, the type of neoadjuvant treatment consisted of chemoradiotherapy in all patients who suffered an injury, whereas it was only administered to 21.3% of patients without an injury. There were no deaths among three patients in whom the injury was identified intraoperatively. Mortality occurred in three of four patients (75.0%) with an injury detected postoperatively. Patients with proximal tumors and radiation administration as a component of neoadjuvant treatment are more likely to suffer a tracheobronchial injury. An aggressive reoperative approach is warranted in patients with injuries that are discovered postoperatively