The Observatory and Fast Facts

Nov. 19, 2020
Scientists use human genome to discover new inflammatory syndrome

Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene, according to a press release. VEXAS causes symptoms that include blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells. The scientists reported their findings in the New England Journal of Medicine (NEJM).

Nearly 125 million people in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, which often make it difficult for researchers to diagnose the specific inflammatory disease in a given patient.

Researchers at the National Human Genome Research Institute (NHGRI), part of the NIH, and collaborators from other NIH Institutes took a unique approach to address this challenge. They studied the genome sequences from more than 2,500 individuals with undiagnosed inflammatory diseases, paying particular attention to a set of over 800 genes related to the process of ubiquitylation, which helps regulate both various protein functions inside a cell and the immune system overall. By doing so, they found a gene that is intricately linked to VEXAS, a disease which can be life threatening. So far, 40 percent of VEXAS patients who the team studied have died, revealing the devastating consequences of the severe condition.

Risk score predicts prognosis of outpatients with COVID-19

A new artificial intelligence-based score considers multiple factors to predict the prognosis of individual patients with COVID-19 seen at urgent care clinics or emergency departments, according to a press release. The tool, which was created by investigators at Massachusetts General Hospital (MGH), can be used to rapidly and automatically determine patients who are most likely to develop complications and need to be hospitalized.

The impetus for the study began early during the U.S. epidemic when Massachusetts experienced frequent urgent care visits and hospital admissions.

As described in The Journal of Infectious Diseases, a team of experts in neurology, infectious disease, critical care, radiology, pathology, emergency medicine and machine learning designed the COVID-19 Acuity Score (CoVA) based on input from information on 9,381 adult outpatients seen in MGH’s respiratory illness clinics and emergency department between March 7 and May 2, 2020. “

CoVA was then tested in another 2,205 patients seen between May 3 and May 14, 2020. In this prospective validation group, 26.1 percent, 6.3 percent and 0.5 percent of patients experienced hospitalization, critical illness or death, respectively, within seven days.

Among 30 predictors – which included demographics like age and gender, COVID-19 testing status, vital signs, medical history and chest X-ray results (when available) – the top five were age, diastolic blood pressure, blood oxygen saturation, COVID-19 testing status and respiratory rate.

Nurse-led antibiotic stewardship intervention reduces unnecessary urine cultures 

Nursing education and a clinical tool to enhance discussions on the necessity of urine cultures (UrCx) among nurses and hospitalists were associated with a reduction in UrCx. The report,“A Pilot Study to Evaluate the Impact of a Nurse-Driven Urine Culture Diagnostic Stewardship Intervention on Urine Cultures in the Acute Care Setting,” was published in the November issue of The Joint Commission Journal on Quality and Patient Safety.

Working with nurses to reduce unnecessary UrCxs may improve the diagnosis of urinary tract infections (UTIs) and, indirectly, antibiotic use, particularly overtreatment of asymptomatic bacteriuria (ASB), which is a major driver of inappropriate antibiotic use in hospitals.

The nurse-driven stewardship intervention was carried out in a 24-bed adult medicine unit staffed by rotating providers from a group of 27 hospitalists and 37 nurses at the Johns Hopkins Hospital.

The intervention included:

• Education on the principles of diagnostic stewardship.

• Identification of a nurse champion to serve as liaison between nursing staff and the antibiotic stewardship program.

• Implementation of an algorithm to guide discussions with hospitalists about situations when UrCx may not be needed.

With the intervention, the mean UrCx rate per 100 patient days decreased from 2.30 to 1.52, while without intervention it increased from 2.17 to 3.10.

In addition, with the intervention, the rate of inappropriate UrCx decreased from 0.83 to 0.71.