The evolution of the mitochondrial disease diagnostic odyssey.

BACKGROUND: Mitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey, and factors that affect it. Our goals are to report the results of the 2018 Odyssey2 (OD2) survey of patients with a medical diagnosis of mitochondrial disease; and to propose steps to reduce the odyssey going forward, and procedures to evaluate them. METHODS: Data are from the NIH-funded NAMDC-RDCRN-UMDF OD2 survey (N = 215). The main outcomes are Time from symptom Onset to mitochondrial disease Diagnosis (TOD) and Number of Doctors Seen during this diagnostic process (NDOCS). RESULTS: Expert recoding increased analyzable responses by 34% for final mitochondrial diagnosis and 39% for prior non-mitochondrial diagnosis. Only one of 122 patients who initially saw a primary care physician (PCP) received a mitochondrial diagnosis, compared to 26 of 86 (30%) who initially saw a specialist (p < 0.001). Mean TOD overall was 9.9 ± 13.0 years, and mean NDOCS 6.7 ± 5.2. Mitochondrial diagnosis brings extensive benefits through treatment changes and increased membership in and support of advocacy groups. CONCLUSIONS: Because TOD is long and NDOCS high, there is great potential for shortening the mitochondrial odyssey. Although prompt patient contact with primary mitochondrial disease specialists, or early implementation of appropriate tests, may shorten the diagnostic odyssey, specific proposals for improvement require testing and confirmation with adequately complete, unbiased data across all its stages, and appropriate methods. Electronic Health Record (EHRs) may help by accessing diagnostic codes early, but their reliability and diagnostic utility have not been established for this group of diseases.

COVID-19 aerosol transmission modeling in support of company HVAC guideline.

A company COVID-19 Heating, Ventilation, and Air Conditioning Guideline was implemented globally, as part of a larger control measure toolset, to minimize the potential for SARS-CoV-2 aerosol transmission. The COVID-19 Heating, Ventilation, and Air Conditioning Guideline informed and provided the process to optimize existing ventilation systems, set occupancy duration limits, and set clearance periods for a given space. Aerosol transmission modeling was used extensively to determine space limitations to reduce the potential for aerosol transmission in various manufacturing, lab, warehouse, aircraft, and administrative workspaces. This paper focuses on the modeling completed for administrative spaces (e.g., offices, conference rooms, restrooms, elevators) due to their lower ventilation rates, higher occupant densities, and greater vocalization levels. A detailed description of how the Guideline was implemented, with examples showing the evaluation and determinations made for specific spaces, is provided. World-wide implementation of this Guideline, as one of the layers of protection, was a key component in the overall strategy to reduce aerosol transmission of the SARS-CoV-2 virus.

Use of portable air purifiers as local exhaust ventilation during COVID-19.

The purpose of this study was to determine if strategic placement of portable air purifiers would improve effectiveness of aerosol reduction in a space as compared to use as a general room air purifier. Two sizes of portable air purifiers were placed in two different positions intended to function similar to either a local exhaust ventilation hood or an air curtain to determine if strategic placement would lead to a reduction of particles in a worker's position at a desk in an office environment. Particle generators were used to introduce particulate into the air and personal aerosol monitors measured particles during each test condition. Results showed that when the medium room portable air purifiers used in this study were set to high, corresponding to 98 CFM, and placed near the breathing zone of each office worker with the unit's filter cover removed, the particle concentration was reduced 35% beyond the reduction that would be expected if the same units were placed on the floor behind the occupant's workstation. Results also indicated that the larger portable air purifier tested, positioned as close as reasonable to each occupant's breathing zone with the largest capture area possible (i.e., removing the unit's filter cover), delivers the best aerosol reduction performance. The authors concluded that as a layer of protection against transmission of airborne infectious organisms for office occupants, installing a portable air purifier, sized and operated similar to the units tested in this study on the desk 12 inches from the breathing zone of the worker, has the potential to reduce airborne particulate to a greater degree than if the same units were placed outside of the breathing zone, in the general cubicle area.

Survival in cystic fibrosis after acute respiratory failure supported by extracorporeal membrane oxygenation and/or invasive mechanical ventilation.

BACKGROUND: Despite therapeutic advances, people with cystic fibrosis (CF) develop progressive worsening and exacerbations of their lung disease, which can lead to acute respiratory failure. Historically, survival after mechanical ventilation (MV) has been poor. Outcomes related to use of extracorporeal membrane oxygenation (ECMO) have not been well described in CF. METHODS: We conducted a retrospective analysis of adult patients with CF admitted to the ICU for acute respiratory failure and requiring invasive MV with or without ECMO between July 1, 2006 and June 30, 2016. Separate analysis for the subgroup of MV patients who were eligible for transplant was conducted. RESULTS: Mortality for all patients with respiratory failure requiring advanced support was 37%. Ten of 28 (36%) MV patients, 10 of 26 (38%) ECMO+MV patients and 7 of the 21 (33%) transplant eligible MV patients died. Intensive care unit (ICU) length of stay (LOS) was 24.5±16.6 days for ECMO+MV; 12.9±9.0 days for MV (p=0.001), and 12.3 ±10 days for transplant eligible MV patients (p=0.005 for ECMO+MV comparison). Seven transplant eligible MV patients (33%) and 16 ECMO+MV patients (62%) underwent lung transplantation (p<0.001) during the hospital admission. One and 2-year survival for individuals who survived ICU admission was similar regardless of mode of support. Cox-proportional hazards model did not yield any variables that significantly influenced ICU mortality, 1-year or 2-year mortality. CONCLUSION: Survival for CF patients with acute respiratory failure requiring MV with or without ECMO has improved over time. ECMO may be an appropriate modality for respiratory support in patients with CF and acute respiratory failure who have greater risk of death from MV alone.

The Systemic Therapy Inventory of Change (STIC) Initial Scales: Are they sensitive to change?

The Systemic Therapy Inventory of Change (STIC) is a multisystemic and multidimensional feedback system that provides therapists feedback about systemic domains of client change in individual, couple, and family therapy over time. The goal of the present study is to investigate the sensitivity to change of the scores of the STIC Initial Scales. In total, 583 clients who voluntarily sought individual, couple, or family therapy services and participated in a randomized controlled trial study were included in the study. Their pre- and posttherapy responses to the STIC Initial measures and corresponding validation measures for individual functioning, couple relationship, child adjustment, and family functioning were compared. The results support the sensitivity to change of the scores of the four STIC Initial Scales investigated: Individual Problems and Strengths (IPS), Relationship with Partner (RWP), Family/Household (FH), and Child Problems and Strengths (CPS). Of particular note, the IPS demonstrated even greater change over time than the BDI-II, BAI, and OQ-45. The discriminant validity of measuring change with the CPS was not supported. Thus, the STIC Initial IPS, RWP, and FH can be usefully employed to measure multisystemic changes in both research and clinical work. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Evidence for a general factor of behavioral activation system sensitivity.

Individual differences in one's propensity to engage the behavioral activation system (BAS) and behavioral inhibition system (BIS) have primarily been studied with Caver and White's (1994) BIS/BAS scale. Whereas, Carver and White identified the BIS as a unidimensional scale, they identified three separable BAS group factors - drive, fun seeking, and reward responsiveness -which Carver urged against combining into a BAS total score. Despite this, a BAS total score has been used extensively although researchers have yet to test whether a BAS general factor exists and, if so, whether a BAS total score can be interpreted as primarily being a measure of the general factor. The current study observed that the best fitting BAS factor model of those we tested was a hierarchical model with three group facets and a general factor. This model was largely invariant across both sex and race/ethnicity. We show, for the first time, that a general factor accounts for the majority of the variance in BAS total scores. Due to the superior fit of the hierarchical model and variance accounted for by the general factor, we conclude that researchers are psychometrically justified in using a BAS total score.

Community perspectives on the risk of indoor air pollution arising from contaminated groundwater.

The migration of volatile contaminants into overlying buildings, known as vapor intrusion, is a health concern for people living above contaminated groundwater. As public health and environmental agencies develop protocols to evaluate vapor intrusion exposure, little attention has been paid to the experiences and opinions of communities likely to be affected by vapor intrusion. Using a community-driven research approach and qualitative interviews, we explored community perspectives on the vapor intrusion pathway and the perceived impact on community health and well-being among neighbors living atop a large, shallow-chlorinated solvent plume in San Antonio, TX. Most participants associated vapor intrusion with health risks, expressing concern about the unavoidable and uncontrollable nature of their exposure. Few were satisfied with the responsiveness of public officials. Above all, participants wanted more accurate, transparent information and additional independent scientific investigations.

Telemedicine as a means of effective speech evaluation for patients with cleft palate.

Providing long-term multidisciplinary care for cleft lip/palate is a challenge for international humanitarian organizations that perform surgery across borders. The use of telemedicine as a means of evaluating speech in patients with cleft lip/palate has not been studied previously. We looked at determining whether a speech evaluation performed by a speech-language pathologist (SLP) using telemedicine would be equivalent to a speech evaluation performed in-person, in an international setting between Tijuana, Mexico and San Diego, CA. Spanish-speaking SLPs developed an informal protocol to evaluate several speech characteristics. Patients were simultaneously evaluated by 2 SLPs, one in-person in Tijuana and the other over telemedicine videoconference from San Diego, CA. In addition, we obtained data regarding the parents experience with telemedicine through a satisfaction survey. Results showed no statistically significant differences between the 2 methods of speech evaluation, particularly in oral muscle tone, resonance, lingual lateralization, oral pressure, and dentition. The satisfaction survey showed family satisfaction with the speech evaluation performed using telemedicine. Thus, telemedicine represents an effective medium for conducting speech assessment in patients with cleft lip/palate, allowing for increased access to care for underserved populations.