Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome, and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion, and structural variant calling and diploid genome assembly, and permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility, and full-length transcript information in a single long-read sequencing run. Application of this approach to an Undiagnosed Diseases Network (UDN) participant with a chromosome X;13 balanced translocation of uncertain significance revealed that this translocation disrupted the functioning of four separate genes (, , , and ) previously associated with single-gene MCs.

The Control of Methicillin-Resistant Staphylococcus aureus Blood Stream Infections in England.

Methicillin-resistant Staphylococcus aureus (MRSA) blood stream infection (BSI) is a major healthcare burden in some but not all healthcare settings, and it is associated with 10%-20% mortality. The introduction of mandatory reporting in England of MRSA BSI in 2001 was followed in 2004 by the setting of target reductions for all National Health Service hospitals. The original national target of a 50% reduction in MRSA BSI was considered by many experts to be unattainable, and yet this goal has been far exceeded (∼80% reduction with rates still declining).

Changes to clinician attire have done more harm than good.

The introduction of 'bare below the elbows' policies to facilitate handwashing led to the disappearance of the white coat from medical and surgical wards. While rates of key healthcare acquired infections in hospitals, e.g.

Does ambulance response time influence patient condition among patients with specific medical and trauma emergencies?

Objectives: The relation between patient outcome and ambulance response times is unknown. We sought to measure the influence of shorter response times on patient outcomes. The objective of the study was to determine whether ambulance response time makes a difference in the outcomes of emergency medical services (EMS) patients with specific traumatic and medical emergencies.

MRSA: why have we got it and can we do anything about it?

MRSA, first identified in 1960, became a major cause of healthcare-associated infection with the emergence of epidemic strains EMRSA 15 and 16 in the 1990 s. MRSA bacteraemia surveillance in England showed a peak of 7700 in 2003-2004. A target was set to halve MRSA bacteraemias by 2008 backed by a central improvement programme for infection prevention and control.