Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles.

Study Question: Can next-generation sequencing (NGS) techniques be used reliably for comprehensive aneuploidy screening of human embryos from patients undergoing IVF treatments, with the purpose of identifying and selecting chromosomally normal embryos for transfer?

Summary Answer: Extensive application of NGS in clinical preimplantation genetic screening (PGS) cycles demonstrates that this methodology is reliable, allowing identification and transfer of euploid embryos resulting in ongoing pregnancies.

What Is Known Already: The effectiveness of PGS is dependent upon the biology of the early embryo and the limitations of the technology. Fluorescence in situ hybridization, used to test for a few chromosomes, has largely been superseded by microarray techniques that test all 24 chromosomes.

Implications of using different methods to characterise anticoagulant control in patients with second generation mechanical heart valve prostheses.

Objective: Characterisation of anticoagulant control is fundamental to investigations of its association with clinical outcome. Anticoagulant control depends on several factors. This paper aims to illustrate the implications of different methods for measuring and analysing anticoagulant control in patients with second generation mechanical heart valve prostheses.

The CEA Second-Look Trial: a randomised controlled trial of carcinoembryonic antigen prompted reoperation for recurrent colorectal cancer.

Objective: In patients who have undergone a potentially curative resection of colorectal cancer, does a 'second-look' operation to resect recurrence, prompted by monthly monitoring of carcinoembryonic antigen, confer a survival benefit?

Design: A randomised controlled trial recruiting patients from 1982 to 1993 was recovered under the Restoring Invisible and Abandoned Trials (RIAT) initiative.

Setting: 58 hospitals in the UK.

Participants: From 1982 to 1993, 1447 patients were enrolled.

Comparative genomic hybridization selection of blastocysts for repeated implantation failure treatment: a pilot study.

The aim of this study is to determine if the use of preimplantation genetic screening (PGS) by array comparative genomic hybridization (array CGH) and transfer of a single euploid blastocyst in patients with repeated implantation failure (RIF) can improve clinical results. Three patient groups are compared: 43 couples with RIF for whom embryos were selected by array CGH (group RIF-PGS), 33 couples with the same history for whom array CGH was not performed (group RIF NO PGS), and 45 good prognosis infertile couples with array CGH selected embryos (group NO RIF PGS). A single euploid blastocyst was transferred in groups RIF-PGS and NO RIF PGS.

Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos.

Objective: To validate a next-generation sequencing (NGS)-based method for 24-chromosome aneuploidy screening and to investigate its applicability to preimplantation genetic screening (PGS).

Design: Retrospective blinded study.

Setting: Reference laboratory.

Real-time prediction of mediastinal lymph node malignancy by endobronchial ultrasound.

Objective: To evaluate the utility of different ultrasonographic (US) features in differentiating benign and malignant lymph node (LN) by endobronchial ultrasound (EBUS) and validate a score for real-time clinical application.

Methods: 208 mediastinal LN acquired from 141 patients were analyzed. Six different US criteria were evaluated (short axis ≥10 mm, shape, margin, echogenicity, and central hilar structure [CHS], and presence of hyperechoic density) by two observers independently.

Structure-function relationship in COPD revisited: an in vivo microscopy view.

Background: Fibred confocal fluorescence microscopy (FCFM) is a novel technology that allows the in vivo assessment and quantification during bronchoscopy of the bronchial wall elastic fibre pattern, alveolar and vessel diameters and thickness of the elastic fibre in the alveolar wall.

Aims: To relate these structural characteristics with lung function parameters in healthy subjects, smokers with normal spirometry and patients with chronic obstructive pulmonary disease (COPD).

Methods: We performed FCFM in 20 never smokers, 20 smokers with normal spirometry and 23 patients with COPD who required bronchoscopy for clinical reasons.

SMART: a spatially explicit bio-economic model for assessing and managing demersal fisheries, with an application to italian trawlers in the strait of sicily.

Management of catches, effort and exploitation pattern are considered the most effective measures to control fishing mortality and ultimately ensure productivity and sustainability of fisheries. Despite the growing concerns about the spatial dimension of fisheries, the distribution of resources and fishing effort in space is seldom considered in assessment and management processes. Here we propose SMART (Spatial MAnagement of demersal Resources for Trawl fisheries), a tool for assessing bio-economic feedback in different management scenarios.

Pulmonary metastasectomy: what is the practice and where is the evidence for effectiveness?

Pulmonary metastasectomy is a commonly performed operation and is tending to increase as part of a concept of personalised treatment for advanced cancer. There have been no randomised trials; belief in effectiveness of metastasectomy is based on registry data and surgical follow-up studies. These retrospective series are comprised predominately of solitary or few metastases with primary resection to metastasectomy intervals longer than 2-3 years.

Outlier SNP markers reveal fine-scale genetic structuring across European hake populations (Merluccius merluccius).

Shallow population structure is generally reported for most marine fish and explained as a consequence of high dispersal, connectivity and large population size. Targeted gene analyses and more recently genome-wide studies have challenged such view, suggesting that adaptive divergence might occur even when neutral markers provide genetic homogeneity across populations. Here, 381 SNPs located in transcribed regions were used to assess large- and fine-scale population structure in the European hake (Merluccius merluccius), a widely distributed demersal species of high priority for the European fishery.

Pulmonary metastasectomy in colorectal cancer: a prospective study of demography and clinical characteristics of 543 patients in the Spanish colorectal metastasectomy registry (GECMP-CCR).

Objectives: To capture an accurate contemporary description of the practice of pulmonary metastasectomy for colorectal carcinoma in one national healthcare system.

Design: A national registry set up in Spain by Grupo Español de Cirugía Metástasis Pulmonares de Carcinoma Colo-Rectal (GECMP-CCR).

Setting: 32 Spanish thoracic units.

Surgery in the treatment of malignant pleural mesothelioma: recruitment into trials should be the default position.

Background: Europe is at the peak of an epidemic of malignant pleural mesothelioma and the burden of disease is likely to continue rising in the large areas of the world where asbestos remains unregulated. Patients with mesothelioma present with thoracic symptoms and radiological changes so respiratory physicians take a leading role in diagnosis and management. Belief that the modest survival times reported after radical surgery, whether alone or as part of multimodal therapy, are longer than they it would have been without surgery relies on data from highly selected, uncontrolled, retrospectively analysed case series.

Effect of adding postoperative noninvasive ventilation to usual care to prevent pulmonary complications in patients undergoing coronary artery bypass grafting: a randomized controlled trial.

Objective: We compared the efficacy of noninvasive ventilation with bilevel positive airway pressure added to usual care versus usual care alone in patients undergoing coronary artery bypass grafting.

Methods: We performed a 2-group, parallel, randomized controlled trial. The primary outcome was time until fit for discharge.

Characteristics of asthma patients admitted to an intermediate respiratory care unit.

Introduction: Intermediate respiratory care units (IRCU) provide continuous monitoring and non-invasive mechanical ventilation (NIMV) in patients with severe respiratory failure who are usually admitted to intensive care units (ICU). The usefulness of IRCU in managing severe asthma exacerbations has never been evaluated.

Methods: Clinical data were prospectively and systematically compiled from patients admitted to the IRCU with a principal diagnosis of bronchial asthma exacerbation.

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.

In this study, we aimed to explore the utility of chromosomal microarray analysis (CMA) in groups of pregnancies with a priori low risk for detection of submicroscopic chromosome abnormalities, usually not considered an indication for testing, in order to assess whether CMA improves the detection rate of prenatal chromosomal aberrations. A total of 3000 prenatal samples were processed in parallel using both whole-genome CMA and conventional karyotyping. The indications for prenatal testing included: advanced maternal age, maternal serum screening test abnormality, abnormal ultrasound findings, known abnormal fetal karyotype, parental anxiety, family history of a genetic condition and cell culture failure.