Doing it All - How Families are Reshaping Rare Disease Research

The face of rare disease drug discovery and development is changing right before our eyes. The outliers of the past were the plucky parents who summoned up the courage to try to treat their children against all odds. Think of the rare disease focused movies ‘Lorenzo’s Oil’ and ‘Extraordinary Measures’ but now accelerated to develop treatments even quicker. Parents, patient advocates and their collaborators are now capable of doing it all themselves. We think this will have profound implications for everyone from the incumbent rare disease foundations that have held sway for decades to the multibillion dollar rare disease market, BioPharma companies, VCs and angel investors that inhabit this space. The repercussions of this disruption will no doubt impact healthcare in general and ultimately influence how we develop treatments for major diseases as well. We present several lines of evidence for our viewpoint from our personal experiences interacting with many rare disease families and patient advocates in recent years.     

Emergency department sepsis screening tool decreases time to antibiotics in patients with sepsis

Recent literature has highlighted the importance of early identification and treatment of sepsis; however, limited data exists to help recognize sepsis in the emergency department (ED) through use of a screening tool. The purpose of this study was to evaluate the impact of a sepsis screening tool implemented in an academic medical center ED on compliance with the 3-hour sepsis bundle.This was a retrospective cohort study that included a total of 115 patients, of which 58 were in the pre-tool group and 57 were in the post-tool group. There was no difference in 3-hour bundle compliance between groups (36.2% vs. 47.4%, P?=?0.26). There was no difference in the following bundle components: lactate (79.3% vs. 80.7%, P?=?0.85), blood cultures (86.2% vs. 96.5%, P?=?0.09), blood cultures before administering antibiotics (91.4% vs. 100%, P?=?0.57) and adequate fluids administration (44.7% vs. 41.9%, P?=?0.820). A significantly higher number of patients received antibiotics within 3?h in the post-tool group (58.6% vs. 89.5%, P?<?0.001). Statistically significant secondary outcomes included average time to antibiotics (P?=?0.04), administering antibiotics within an hour (P?>?0.001), and ICU length of stay (P?=?0.03). There was no difference in 30-day mortality, however mortality was numerically lower in the post-tool group (36.2% vs. 26.3%, P?=?0.25).Although implementation of an ED sepsis screening tool did not increase 3-hour bundle compliance, it did increase the proportion of patients receiving timely antimicrobial therapy and demonstrated a trend towards decreased mortality.     

COVID-19 Infection Control Measures in Long-Term Care Facility,Pennsylvania, USA

Residents of long-term care facilities are at risk for coronavirus disease. We report a surveillance exercise at such a facility in Pennsylvania, USA. After introduction of a testing strategy and other measures, this facility had a 17-fold lower coronavirus disease case rate than neighboring facilities.     

Prevention of Breast Cancer-Related Lymphedema

Tremendous progress has been made over the past several decades in the treatment of breast cancer. Mortality and recurrence rates continue to decline. Our ability to tailor patient- and tumor-specific treatments has rapidly advanced. The vast majority of our patients can safely have breast conservation. Unfortunately, for many patients, survivorship is burdened by ongoing quality-of-life issues. Most breast cancer patients are asymptomatic at presentation, and the onus is on us to preserve this. Surgery, radiation, and systemic therapy can result in long-term toxicities that can be amplified with multimodality approaches. We must strive to apply minimally effective therapies rather than a maximally tolerated approach. Breast cancer-related lymphedema (BCRL) is a particularly dreaded chronic complication. This review strives to give the reader a better understanding of BCRL and shed light on wisely choosing an integration of treatment modalities that minimizes BCRL risk. Key literature on emerging concepts is highlighted.