Munchausen by internet: current research and future directions.

The Internet has revolutionized the health world, enabling self-diagnosis and online support to take place irrespective of time or location. Alongside the positive aspects for an individual's health from making use of the Internet, debate has intensified on how the increasing use of Web technology might have a negative impact on patients, caregivers, and practitioners. One such negative health-related behavior is Munchausen by Internet

A contiguous de novo genome assembly of sugar beet EL10 (Beta vulgaris L.)

A contiguous assembly of the inbred ‘EL10’ sugar beet (Beta vulgaris ssp. vulgaris) genome was constructed using PacBio long-read sequencing, BioNano optical mapping, Hi-C scaffolding, and Illumina short-read error correction. The EL10.1 assembly was 540 Mb, of which 96.2% was contained in nine chromosome-sized pseudomolecules with lengths from 52 to 65 Mb, and 31 contigs with a median size of 282 kb that remained unassembled. Gene annotation incorporating RNA-seq data and curated sequences via the MAKER annotation pipeline generated 24,255 gene models. Results indicated that the EL10.1 genome assembly is a contiguous genome assembly highly congruent with the published sugar beet reference genome. Gross duplicate gene analyses of EL10.1 revealed little large-scale intra-genome duplication. Reduced gene copy number for well-annotated gene families relative to other core eudicots was observed, especially for transcription factors. Variation in genome size in B. vulgaris was investigated by flow cytometry among 50 individuals producing estimates from 633 to 875 Mb/1C. Read-depth mapping with short-read whole-genome sequences from other sugar beet germplasm suggested that relatively few regions of the sugar beet genome appeared associated with high-copy number variation

Produção da cenoura e efeito na fertilidade do solo e nutrição decorrente da solarização do solo para controle da tiririca.

Dentre os desafios do cultivo orgânico de hortaliças destaca-se o controle de plantas daninhas, devido à proibição do uso de herbicidas. Entre as invasoras, a tiririca (Cyperus rotundus L.) é de difícil controle pela sua alta competitividade. A solarização é uma alternativa para desinfestação do solo, a qual consiste em cobri-lo com plástico transparente, com bons resultados no controle da tiririca. A fim de avaliar a influência do preparo e do revolvimento do solo sobre a eficiência da solarização no controle da tiririca, bem como seu posterior efeito sobre o cultivo da cenoura, foi realizado um experimento na Fazendinha Agroecológica, em Seropédica (RJ). O experimento foi disposto em blocos ao acaso com três repetições, em arranjo fatorial 2 x 3 mais uma testemunha adicional, sendo: 1) solo solarizado, preparado (com grade aradora) e revolvido 30 dias após a solarização (manualmente com auxílio de uma enxada); 2) solo solarizado, preparado e revolvido aos 60 dias; 3) solo solarizado, preparado e não revolvido; 4) solo solarizado, não preparado e revolvido aos 30 dias; 5) solo solarizado, não preparado e revolvido aos 60 dias; 6) solo solarizado, não preparado e não revolvido; solo não solarizado, não preparado e não revolvido (testemunha). A solarização iniciou-se em 29/1/2002, e durou cem dias. A solarização reduziu em 86% a infestação de tiririca no cultivo da cenoura. Até 10 cm de profundidade, a temperatura do solo foi superior nas parcelas solarizadas, porém a 5 cm, a solarização foi mais eficiente quando associada ao preparo do solo, não havendo efeito do revolvimento. A solarização aumentou os valores da biomassa microbiana e dos teores de Ca, Mg e P do solo. O desenvolvimento da cenoura foi influenciado pela solarização que resultou em maior produtividade

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair mitochondrial protein translation, causing combined OXPHOS enzyme deficiency and clinical disease. Here we report four autosomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, MRPS34, in six subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects. Whole-exome sequencing was used to independently identify all variants. Two splice-site mutations were identified, including homozygous c.321+1G>T in a subject of Italian ancestry and homozygous c.322−10G>A in affected sibling pairs from two unrelated families of Puerto Rican descent. In addition, compound heterozygous MRPS34 mutations were identified in a proband of French ancestry; a missense (c.37G>A [p.Glu13Lys]) and a nonsense (c.94C>T [p.Gln32∗]) variant. We demonstrated that these mutations reduce MRPS34 protein levels and the synthesis of OXPHOS subunits encoded by mtDNA. Examination of the mitoribosome profile and quantitative proteomics showed that the mitochondrial translation defect was caused by destabilization of the small mitoribosomal subunit and impaired monosome assembly. Lentiviral-mediated expression of wild-type MRPS34 rescued the defect in mitochondrial translation observed in skin fibroblasts from affected subjects, confirming the pathogenicity of MRPS34 mutations. Our data establish that MRPS34 is required for normal function of the mitoribosome in humans and furthermore demonstrate the power of quantitative proteomic analysis to identify signatures of defects in specific cellular pathways in fibroblasts from subjects with inherited disease