Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

WSES guidelines for management of Clostridium difficile infection in surgical patients

In the last two decades there have been dramatic changes in the epidemiology of Clostridium difficile infection (CDI), with increases in incidence and severity of disease in many countries worldwide. The incidence of CDI has also increased in surgical patients. Optimization of management of C difficile, has therefore become increasingly urgent. An international multidisciplinary panel of experts prepared evidenced-based World Society of Emergency Surgery (WSES) guidelines for management of CDI in surgical patients.Peer reviewe

Assistência circulatória com aparelho Heart Mate® na Cleveland Clinic Foundation: experiência inicial e futuras aplicações

Objetivo: Estudar a experiência inicial em assistência circulatória ventricular esquerda com o aparelho pneumático implantável Heart Mate® 1000 IP, analisando suas características e aplicações clínicas. Material e Métodos: Entre dez/91 e set/94 (45 meses) 33 pacientes em choque cardiogênico por miocardiopatia isquêmica ou dilatada foram assistidos, com esse aparelho, por um tempo de 0 a 153 dias (média de 76 dias, nos pacientes que chegaram a ser transplantados). O diagnóstico, o tempo de assintência circulatória, os parâmetros hemodinâmicos (índice cardíaco, gradiente transpulmonar, fração de ejeção do ventrículo direito, resistência vascular pulmonar e variação da área do ventrículo direito), assim como as complicações clínicas são apresentados e discutidos. Valores pré e pós implante são apresentados como média +/- desvio padrão e comparados por teste T pareado. Resultados: A melhora hemodinâmica foi estatisticamente significante (p<0,05). Houve 9 (27,3%) óbitos, pelas seguintes complicações: sepse, falência de VD e insuficiência respiratória. Vinte e quatro pacientes foram transplantados. Não houve nenhum caso de tromboembolismo. Conclusões: Houve melhora clínica em pacientes com elevado risco para transplante cardíaco de urgência, com relativamente baixa taxa de morbi-mortalidade durante a assistência e alta taxa de transplantes (69,7%). Os resultados encorajam o uso desse aparelho para tratamento da fase final da insuficiência cardíaca congestiva grave.<br>Purpose: To study and evaluate the current use of the Heart Mate® 1000 IP LVAD at the Cleveland Clinic Foundation. Methods: Between Dec/91 and Sept/94 the Heart Mate pneumatic LVAD was implanted in 33 severely shocked patients. Multiple hemodynamic measurements were done in the OR during implant, 24 hours later and just before the heart transplant. Numbers are presented in mean (+/- standard deviation) and compared by paired T-test. Clinical outcome and complications are discussed. Results: Hemodynamic parameters markedly improved after device implantation (statistically significant). Support time ranged from 0 to 153 days (mean 76 in the group that reached the transplant). There were 9 (15%) deaths due to right ventricular failure, sepsis and multiple organ failure. No thromboembolic events occurred. Conclusion: Treatment with the Heart Mate improved clinical outcome in high risk patients. The results encourage its application as a new alternative therapy to heart failure

Single-Lung transplantation with atrial septal defect repair for Eisenmenger's syndrome

Heart-lung transplantation has been used successfully for patients with pulmonary vascular disease but its application has been very limited due to the scarcity of donors. We report a patient with Eisenmenger's syndrome who underwent right single-lung transplantation with closure of atrial septal defect; postoperative convalescence was uneventful. Serial magnetic resonance imaging examinations demonstrate improved right heart function