Faculty Bibliography

BACKGROUND:Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. METHODS:We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. RESULTS:Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, non-invasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. CONCLUSIONS:Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.

PURPOSE OF REVIEW/OBJECTIVE:In this review, we will discuss efforts and challenges in understanding and developing meaningful outcomes of critical care research, quality improvement and policy, which are patient-centered and goal concordant, rather than mortality alone. We shall discuss different aspects of what could constitute outcomes of critical illness as meaningful to the patients and other stakeholders, including families and providers. RECENT FINDINGS/RESULTS:Different outcome pathways after critical illness impact the patients, families and providers in multiple ways. For patients who die, it is important to consider the experience of dying. For the increasing number of survivors of critical illness, challenges of survival have surfaced. The physical, mental and social debility that survivors experience has evolved into the entity called post-ICU syndrome. The importance of prehospital health state trajectory and the need for the outcome of critical care to be aligned with the patients' goals and preferences have been increasingly recognized. SUMMARY/CONCLUSIONS:A theoretical framework is outlined to help understand the impact of critical care interventions on outcomes that are meaningful to patients, families and healthcare providers.

Dead space fraction (V d/V t) measurement performed using volumetric capnography requires arterial blood gas (ABG) sampling to estimate the partial pressure of carbon dioxide (PaCO2). In recent years, transcutaneous capnography (PtcCO2) has emerged as a noninvasive method of estimating PaCO2. We hypothesized that PtcCO2 can be used as a substitute for PaCO2 in the calculation of V d/V t. In this prospective pilot comparison study, 30 consecutive postcardiac surgery mechanically ventilated patients had V d/V t calculated separately using volumetric capnography by substituting PtcCO2 for PaCO2. The mean V d/V t calculated using PaCO2 and PtcCO2 was 0.48 +/- 0.09 and 0.53 +/- 0.08, respectively, with a strong positive correlation between the two methods of calculation (Pearson's correlation = 0.87, p < 0.05). Bland-Altman analysis showed a mean difference of -0.05 (95% CI: -0.01 to -0.09) between the two methods. PtcCO2 measurements can provide a noninvasive means to measure V d/V t, thus accessing important physiologic information and prognostic assessment in patients receiving mechanical ventilation.

OBJECTIVE: The Lung Injury Prediction Score identifies patients at risk for acute respiratory distress syndrome in the emergency department, but it has not been validated in non-emergency department hospitalized patients. We aimed to evaluate whether Lung Injury Prediction Score identifies non-emergency department hospitalized patients at risk of developing acute respiratory distress syndrome at the time of critical care contact. DESIGN: Retrospective study. SETTING: Five academic medical centers. PATIENTS: Nine hundred consecutive patients (>/= 18 yr old) with at least one acute respiratory distress syndrome risk factor at the time of critical care contact. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Lung Injury Prediction Score was calculated using the worst values within the 12 hours before initial critical care contact. Patients with acute respiratory distress syndrome at the time of initial contact were excluded. Acute respiratory distress syndrome developed in 124 patients (13.7%) a median of 2 days (interquartile range, 2-3) after critical care contact. Hospital mortality was 22% and was significantly higher in acute respiratory distress syndrome than non-acute respiratory distress syndrome patients (48% vs 18%; p < 0.001). Increasing Lung Injury Prediction Score was significantly associated with development of acute respiratory distress syndrome (odds ratio, 1.31; 95% CI, 1.21-1.42) and the composite outcome of acute respiratory distress syndrome or death (odds ratio, 1.26; 95% CI, 1.18-1.34). A Lung Injury Prediction Score greater than or equal to 4 was associated with the development of acute respiratory distress syndrome (odds ratio, 4.17; 95% CI, 2.26-7.72), composite outcome of acute respiratory distress syndrome or death (odds ratio, 2.43; 95% CI, 1.68-3.49), and acute respiratory distress syndrome after accounting for the competing risk of death (hazard ratio, 3.71; 95% CI, 2.05-6.72). For acute respiratory distress syndrome development, the Lung Injury Prediction Score has an area under the receiver operating characteristic curve of 0.70 and a Lung Injury Prediction Score greater than or equal to 4 has 90% sensitivity (misses only 10% of acute respiratory distress syndrome cases), 31% specificity, 17% positive predictive value, and 95% negative predictive value. CONCLUSIONS: In a cohort of non-emergency department hospitalized patients, the Lung Injury Prediction Score and Lung Injury Prediction Score greater than or equal to 4 can identify patients at increased risk of acute respiratory distress syndrome and/or death at the time of critical care contact but it does not perform as well as in the original emergency department cohort.

The intensive care unit (ICU) was initially developed in the 1950s to treat patients who required invasive respiratory support and hemodynamic resuscitation. Since the beginning, ICU medicine has focused on maintaining sufficient arterial blood flow and oxygenation to provide adequate tissue oxygen delivery to forestall or reverse organ failure. Over time, ICU medicine became more intensive, with the administration of many diagnostic tests and monitors, invasive procedures, and treatments, often with scant evidence of benefit associated with them. An alternative perspective holds that ICU patients may represent a group of patients that is especially vulnerable to iatrogenic harm. We outline a case that presents common ICU dilemmas and discusses current data that propose that "less is more" when making key diagnostic or therapeutic choices in the ICU. Further, we assert that providers should skeptically consider common ICU interventions, trying to account for the potential unintended consequences of interventions. Finally, we suggest that the guiding principle of ICU medicine should be primum non nocere: in delicate situations, it may be better not to do something, or even to do nothing, rather than risk causing harm.